| geneid | 11113 |
|---|---|
| ensemblid | ENSG00000122966.18 |
| hgncid | 1985 |
| symbol | CIT |
| name | citron rho-interacting serine/threonine kinase |
| refseq_nuc | NM_001206999.2 |
| refseq_prot | NP_001193928.1 |
| ensembl_nuc | ENST00000392521.7 |
| ensembl_prot | ENSP00000376306.2 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 119685791 |
| end | 119877320 |
| strand | - |
| ver | v1.2 |
| region | chr12:119685791-119877320 |
| region5000 | chr12:119680791-119882320 |
| regionname0 | CIT_chr12_119685791_119877320 |
| regionname5000 | CIT_chr12_119680791_119882320 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 2069 | 210 | 63 | 29 | 88 | 6 | 22 | 65 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0002 | 0/0 | 2069 | 15 | 13 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0003 | 0/0 | 2069 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0004 | 0/0 | 2069 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0005 | 0/0 | 2069 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0006 | 0/0 | 2069 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0007 | 0/0 | 2069 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0008 | 0/0 | 2069 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0009 | 0/0 | 2069 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0010 | 0/0 | 2069 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0011 | 0/0 | 2069 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/1 | 6210 | 92 | 15 | 16 | 46 | 2 | 12 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0002 | 1/0 | 6210 | 38 | 4 | 3 | 24 | 3 | 3 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0003 | 0/0 | 6210 | 25 | 14 | 7 | 0 | 1 | 3 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0004 | 0/0 | 6210 | 13 | 11 | 2 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0005 | 0/0 | 6210 | 10 | 10 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0006 | 0/0 | 6210 | 9 | 1 | 0 | 8 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0007 | 0/0 | 6210 | 6 | 5 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0008 | 0/0 | 6210 | 3 | 3 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0009 | 0/0 | 6210 | 3 | 3 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0010 | 0/0 | 6210 | 2 | 0 | 0 | 2 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0011 | 0/0 | 6210 | 2 | 0 | 1 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0012 | 0/0 | 6210 | 2 | 0 | 0 | 0 | 0 | 2 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0013 | 0/0 | 6210 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0014 | 0/0 | 6210 | 2 | 0 | 0 | 2 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0015 | 0/0 | 6210 | 2 | 1 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0016 | 0/0 | 6210 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0017 | 0/0 | 6210 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0018 | 0/0 | 6210 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0019 | 0/0 | 6210 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0020 | 0/0 | 6210 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0021 | 0/0 | 6210 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0022 | 0/0 | 6210 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0023 | 0/0 | 6210 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0024 | 0/0 | 6210 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0025 | 0/0 | 6210 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0026 | 0/0 | 6210 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0027 | 0/0 | 6210 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0028 | 0/0 | 6210 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0029 | 0/0 | 6210 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0030 | 0/0 | 6210 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0031 | 0/0 | 6210 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0032 | 0/0 | 6210 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0033 | 0/0 | 6210 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0034 | 0/0 | 6210 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0035 | 0/0 | 6210 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| c0036 | 0/0 | 6210 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/1 | 2526 | 70 | 18 | 9 | 31 | 2 | 9 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0002 | 0/0 | 2526 | 42 | 2 | 1 | 32 | 2 | 5 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0003 | 0/0 | 2525 | 35 | 23 | 6 | 1 | 1 | 4 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0004 | 0/0 | 2526 | 19 | 0 | 2 | 15 | 0 | 2 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0005 | 0/0 | 2526 | 12 | 8 | 3 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0006 | 0/0 | 2525 | 9 | 4 | 5 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0007 | 0/0 | 2526 | 7 | 7 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0008 | 1/0 | 2527 | 7 | 5 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0009 | 0/0 | 2527 | 5 | 3 | 1 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0010 | 0/0 | 2524 | 4 | 4 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0011 | 0/0 | 2525 | 4 | 2 | 2 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0012 | 0/0 | 2526 | 4 | 0 | 0 | 4 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0013 | 0/0 | 2527 | 3 | 0 | 2 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0014 | 0/0 | 2525 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0015 | 0/0 | 2526 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0016 | 0/0 | 2524 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0017 | 0/0 | 2524 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0018 | 0/0 | 2525 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0019 | 0/0 | 2525 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0020 | 0/0 | 2526 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0021 | 0/0 | 2526 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0022 | 0/0 | 2527 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0023 | 0/0 | 2527 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0024 | 0/0 | 2526 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0025 | 0/0 | 2526 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0026 | 0/0 | 2527 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| t0027 | 0/0 | 2526 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0047 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0102 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0123 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0156 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0177 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0178 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0181 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0195 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0196 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 6210 | 92 | 15 | 16 | 46 | 2 | 12 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0002 | 1/0 | 6210 | 38 | 4 | 3 | 24 | 3 | 3 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0003 | 0/0 | 6210 | 25 | 14 | 7 | 0 | 1 | 3 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0005 | 0/0 | 6210 | 10 | 10 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0006 | 0/0 | 6210 | 9 | 1 | 0 | 8 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0007 | 0/0 | 6210 | 6 | 5 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0008 | 0/0 | 6210 | 3 | 3 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0009 | 0/0 | 6210 | 3 | 3 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0010 | 0/0 | 6210 | 2 | 0 | 0 | 2 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0011 | 0/0 | 6210 | 2 | 0 | 1 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0012 | 0/0 | 6210 | 2 | 0 | 0 | 0 | 0 | 2 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0013 | 0/0 | 6210 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0014 | 0/0 | 6210 | 2 | 0 | 0 | 2 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0015 | 0/0 | 6210 | 2 | 1 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0017 | 0/0 | 6210 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0023 | 0/0 | 6210 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0025 | 0/0 | 6210 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0026 | 0/0 | 6210 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0027 | 0/0 | 6210 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0028 | 0/0 | 6210 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0029 | 0/0 | 6210 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0030 | 0/0 | 6210 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0031 | 0/0 | 6210 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0034 | 0/0 | 6210 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0035 | 0/0 | 6210 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0002c0004 | 0/0 | 6210 | 13 | 11 | 2 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0002c0016 | 0/0 | 6210 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0003c0019 | 0/0 | 6210 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0004c0018 | 0/0 | 6210 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0005c0020 | 0/0 | 6210 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0006c0021 | 0/0 | 6210 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0007c0022 | 0/0 | 6210 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0008c0033 | 0/0 | 6210 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0009c0024 | 0/0 | 6210 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0010c0032 | 0/0 | 6210 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0011c0036 | 0/0 | 6210 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 8735 | 53 | 11 | 8 | 22 | 2 | 9 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0001t0002 | 0/0 | 8735 | 9 | 1 | 0 | 8 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0001t0003 | 0/0 | 8734 | 2 | 1 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0001t0004 | 0/0 | 8735 | 16 | 0 | 2 | 12 | 0 | 2 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0001t0005 | 0/0 | 8735 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0001t0006 | 0/0 | 8734 | 4 | 1 | 3 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0001t0008 | 0/0 | 8736 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0001t0015 | 0/0 | 8735 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0001t0016 | 0/0 | 8733 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0001t0021 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0001t0023 | 0/0 | 8736 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0001t0025 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0001t0026 | 0/0 | 8736 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0002t0001 | 0/0 | 8735 | 4 | 1 | 0 | 3 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0002t0002 | 0/0 | 8735 | 25 | 1 | 1 | 18 | 2 | 3 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0002t0004 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0002t0008 | 1/0 | 8736 | 1 | 0 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0002t0013 | 0/0 | 8736 | 3 | 0 | 2 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0002t0014 | 0/0 | 8734 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0002t0018 | 0/0 | 8734 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0002t0020 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0003t0003 | 0/0 | 8734 | 21 | 13 | 5 | 0 | 1 | 2 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0003t0005 | 0/0 | 8735 | 3 | 0 | 2 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0003t0017 | 0/0 | 8733 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0005t0008 | 0/0 | 8736 | 5 | 5 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0005t0010 | 0/0 | 8733 | 4 | 4 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0005t0022 | 0/0 | 8736 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0006t0001 | 0/0 | 8735 | 3 | 0 | 0 | 3 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0006t0012 | 0/0 | 8735 | 4 | 0 | 0 | 4 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0006t0024 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0006t0027 | 0/0 | 8735 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0007t0005 | 0/0 | 8735 | 6 | 5 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0008t0001 | 0/0 | 8735 | 3 | 3 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0009t0009 | 0/0 | 8736 | 3 | 3 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0010t0002 | 0/0 | 8735 | 2 | 0 | 0 | 2 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0011t0009 | 0/0 | 8736 | 2 | 0 | 1 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0012t0002 | 0/0 | 8735 | 2 | 0 | 0 | 0 | 0 | 2 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0013t0003 | 0/0 | 8734 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0013t0005 | 0/0 | 8735 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0014t0001 | 0/0 | 8735 | 2 | 0 | 0 | 2 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0015t0006 | 0/0 | 8734 | 2 | 1 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0017t0003 | 0/0 | 8734 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0023t0004 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0025t0003 | 0/0 | 8734 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0026t0002 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0027t0002 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0028t0003 | 0/0 | 8734 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0029t0003 | 0/0 | 8734 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0030t0005 | 0/0 | 8735 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0031t0004 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0034t0001 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0001c0035t0003 | 0/0 | 8734 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0002c0004t0003 | 0/0 | 8734 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0002c0004t0007 | 0/0 | 8735 | 7 | 7 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0002c0004t0011 | 0/0 | 8734 | 4 | 2 | 2 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0002c0004t0019 | 0/0 | 8734 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0002c0016t0001 | 0/0 | 8735 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0003c0019t0003 | 0/0 | 8734 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0004c0018t0006 | 0/0 | 8734 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0005c0020t0001 | 0/0 | 8735 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0006c0021t0003 | 0/0 | 8734 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0007c0022t0002 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0008c0033t0006 | 0/0 | 8734 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0009c0024t0002 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0010c0032t0001 | 0/0 | 8735 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| a0011c0036t0003 | 0/0 | 8734 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | copy fasta | chr12 | 119680791 | 119882320 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0123 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0001g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0002g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0002g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0002g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0002g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0002g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0002g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0002g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0002g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0003g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0003g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0004g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0004g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0004g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0004g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0004g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0004g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0004g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0004g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0004g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0004g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0004g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0004g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0004g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0004g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0004g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0004g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0005g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0006g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0006g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0006g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0006g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0008g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0015g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0016g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0021g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0023g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0025g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0001t0026g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0102 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0156 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0002g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0004g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0008g0177 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0013g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0013g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0013g0196 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0014g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0014g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0018g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0002t0020g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0178 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0003g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0005g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0005g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0005g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0003t0017g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0005t0008g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0005t0008g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0005t0008g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0005t0008g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0005t0008g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0005t0010g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0005t0010g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0005t0010g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0005t0010g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0005t0022g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0006t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0006t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0006t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0006t0012g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0006t0012g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0006t0012g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0006t0012g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0006t0024g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0006t0027g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0007t0005g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0007t0005g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0007t0005g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0007t0005g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0007t0005g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0007t0005g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0008t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0008t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0008t0001g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0009t0009g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0009t0009g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0009t0009g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0010t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0010t0002g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0011t0009g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0011t0009g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0012t0002g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0012t0002g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0013t0003g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0013t0005g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0014t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0014t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0015t0006g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0015t0006g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0017t0003g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0017t0003g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0023t0004g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0025t0003g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0026t0002g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0027t0002g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0028t0003g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0029t0003g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0030t0005g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0031t0004g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0034t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0001c0035t0003g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0002c0004t0003g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0002c0004t0007g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0002c0004t0007g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0002c0004t0007g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0002c0004t0007g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0002c0004t0007g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0002c0004t0007g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0002c0004t0007g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0002c0004t0011g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0002c0004t0011g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0002c0004t0011g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0002c0004t0011g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0002c0004t0019g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0002c0016t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0002c0016t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0003c0019t0003g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0003c0019t0003g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0004c0018t0006g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0004c0018t0006g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0005c0020t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0006c0021t0003g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0007c0022t0002g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0008c0033t0006g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0009c0024t0002g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0010c0032t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| a0011c0036t0003g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0001 | c0002 | t0013 | g0196 | EUR | FIN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0047 | EUR | FIN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG00408 | hp1 | a0001 | c0034 | t0001 | g0063 | EAS | CHS | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG00408 | hp2 | a0001 | c0001 | t0002 | g0110 | EAS | CHS | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | CHS | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG00597 | hp2 | a0001 | c0001 | t0004 | g0104 | EAS | CHS | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG00733 | hp1 | a0008 | c0033 | t0006 | g0176 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG00733 | hp2 | a0001 | c0001 | t0006 | g0119 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0130 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG00735 | hp2 | a0001 | c0003 | t0003 | g0086 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG00738 | hp1 | a0001 | c0002 | t0013 | g0048 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0118 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG00741 | hp1 | a0001 | c0002 | t0013 | g0071 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG00741 | hp2 | a0005 | c0020 | t0001 | g0027 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01069 | hp1 | a0001 | c0003 | t0003 | g0031 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0117 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0153 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01081 | hp2 | a0001 | c0003 | t0003 | g0185 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01106 | hp1 | a0001 | c0001 | t0008 | g0135 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01106 | hp2 | a0001 | c0011 | t0009 | g0191 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01109 | hp1 | a0001 | c0007 | t0005 | g0219 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01109 | hp2 | a0001 | c0003 | t0003 | g0150 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01167 | hp1 | a0001 | c0001 | t0016 | g0124 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01167 | hp2 | a0001 | c0002 | t0002 | g0072 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01168 | hp1 | a0002 | c0004 | t0011 | g0038 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0224 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01169 | hp1 | a0001 | c0001 | t0006 | g0125 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01169 | hp2 | a0002 | c0004 | t0011 | g0035 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01243 | hp1 | a0001 | c0003 | t0003 | g0208 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01243 | hp2 | a0001 | c0015 | t0006 | g0023 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01257 | hp1 | a0001 | c0001 | t0006 | g0116 | AMR | CLM | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01257 | hp2 | a0001 | c0003 | t0005 | g0189 | AMR | CLM | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0175 | AMR | CLM | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01258 | hp2 | a0001 | c0003 | t0005 | g0190 | AMR | CLM | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01515 | hp1 | a0001 | c0002 | t0002 | g0156 | EUR | IBS | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0181 | EUR | IBS | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01928 | hp1 | a0001 | c0001 | t0004 | g0146 | AMR | PEL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01928 | hp2 | a0001 | c0001 | t0015 | g0094 | AMR | PEL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01934 | hp1 | a0001 | c0001 | t0004 | g0194 | AMR | PEL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG01934 | hp2 | a0001 | c0001 | t0001 | g0008 | AMR | PEL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02015 | hp1 | a0001 | c0002 | t0002 | g0222 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02015 | hp2 | a0001 | c0001 | t0004 | g0165 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02027 | hp1 | a0001 | c0001 | t0021 | g0171 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02027 | hp2 | a0001 | c0002 | t0002 | g0074 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02056 | hp1 | a0001 | c0002 | t0002 | g0096 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02056 | hp2 | a0001 | c0001 | t0001 | g0226 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02071 | hp1 | a0001 | c0002 | t0002 | g0078 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0114 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02080 | hp1 | a0001 | c0001 | t0004 | g0164 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02080 | hp2 | a0001 | c0002 | t0002 | g0088 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02083 | hp2 | a0001 | c0001 | t0004 | g0163 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02165 | hp1 | a0001 | c0002 | t0002 | g0067 | EAS | CDX | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0126 | EAS | CDX | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02257 | hp1 | a0001 | c0007 | t0005 | g0218 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02258 | hp1 | a0002 | c0004 | t0007 | g0054 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02258 | hp2 | a0001 | c0001 | t0003 | g0111 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02280 | hp1 | a0001 | c0008 | t0001 | g0210 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02280 | hp2 | a0002 | c0004 | t0007 | g0053 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02293 | hp1 | a0001 | c0001 | t0001 | g0140 | AMR | PEL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02293 | hp2 | a0011 | c0036 | t0003 | g0207 | AMR | PEL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02451 | hp1 | a0001 | c0003 | t0003 | g0037 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02451 | hp2 | a0001 | c0003 | t0017 | g0060 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02523 | hp1 | a0001 | c0002 | t0002 | g0089 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0225 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02622 | hp1 | a0002 | c0004 | t0003 | g0044 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0017 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02630 | hp1 | a0001 | c0009 | t0009 | g0043 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02630 | hp2 | a0001 | c0003 | t0003 | g0183 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02647 | hp1 | a0001 | c0003 | t0003 | g0209 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02647 | hp2 | a0002 | c0016 | t0001 | g0014 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02717 | hp1 | a0003 | c0019 | t0003 | g0231 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02717 | hp2 | a0001 | c0005 | t0008 | g0022 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02723 | hp1 | a0001 | c0005 | t0008 | g0215 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0232 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02809 | hp1 | a0002 | c0004 | t0011 | g0056 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02809 | hp2 | a0001 | c0009 | t0009 | g0036 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02818 | hp1 | a0002 | c0016 | t0001 | g0061 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02818 | hp2 | a0002 | c0004 | t0007 | g0052 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02886 | hp1 | a0001 | c0005 | t0010 | g0217 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02886 | hp2 | a0002 | c0004 | t0007 | g0033 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02895 | hp1 | a0001 | c0005 | t0010 | g0042 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02895 | hp2 | a0001 | c0030 | t0005 | g0032 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02896 | hp1 | a0004 | c0018 | t0006 | g0005 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02896 | hp2 | a0001 | c0005 | t0008 | g0085 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02897 | hp1 | a0004 | c0018 | t0006 | g0006 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02897 | hp2 | a0001 | c0005 | t0022 | g0041 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02922 | hp1 | a0001 | c0005 | t0008 | g0021 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02922 | hp2 | a0001 | c0003 | t0003 | g0193 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02965 | hp1 | a0006 | c0021 | t0003 | g0003 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02965 | hp2 | a0002 | c0004 | t0019 | g0051 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0015 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02970 | hp2 | a0001 | c0007 | t0005 | g0062 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02976 | hp1 | a0002 | c0004 | t0007 | g0050 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02976 | hp2 | a0001 | c0002 | t0014 | g0235 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03017 | hp1 | a0001 | c0001 | t0004 | g0169 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0179 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03041 | hp1 | a0001 | c0015 | t0006 | g0004 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03041 | hp2 | a0001 | c0002 | t0002 | g0099 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03098 | hp1 | a0001 | c0013 | t0005 | g0029 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03098 | hp2 | a0001 | c0005 | t0010 | g0221 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03130 | hp1 | a0003 | c0019 | t0003 | g0002 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03130 | hp2 | a0001 | c0003 | t0003 | g0024 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03139 | hp1 | a0001 | c0008 | t0001 | g0212 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03139 | hp2 | a0001 | c0002 | t0001 | g0058 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03195 | hp2 | a0001 | c0005 | t0008 | g0182 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03209 | hp1 | a0001 | c0035 | t0003 | g0007 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03209 | hp2 | a0001 | c0003 | t0003 | g0192 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03225 | hp1 | a0001 | c0003 | t0003 | g0040 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03225 | hp2 | a0001 | c0003 | t0003 | g0213 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0108 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03239 | hp2 | a0001 | c0003 | t0003 | g0128 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03453 | hp1 | a0001 | c0009 | t0009 | g0039 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03453 | hp2 | a0002 | c0004 | t0011 | g0162 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0180 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03486 | hp2 | a0010 | c0032 | t0001 | g0028 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03490 | hp1 | a0001 | c0001 | t0003 | g0106 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03490 | hp2 | a0001 | c0002 | t0002 | g0045 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03492 | hp1 | a0001 | c0001 | t0004 | g0170 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03492 | hp2 | a0001 | c0002 | t0002 | g0046 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03516 | hp1 | a0001 | c0013 | t0003 | g0025 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03540 | hp1 | a0001 | c0003 | t0003 | g0198 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03540 | hp2 | a0002 | c0004 | t0007 | g0057 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03579 | hp1 | a0001 | c0002 | t0014 | g0236 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03579 | hp2 | a0001 | c0001 | t0005 | g0020 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0109 | SAS | STU | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03688 | hp2 | a0001 | c0003 | t0005 | g0186 | SAS | STU | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0199 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03710 | hp2 | a0001 | c0012 | t0002 | g0101 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03834 | hp1 | a0001 | c0003 | t0003 | g0205 | SAS | BEB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0200 | SAS | BEB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03942 | hp1 | a0001 | c0029 | t0003 | g0187 | SAS | BEB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0223 | SAS | BEB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0201 | SAS | STU | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG04199 | hp2 | a0001 | c0012 | t0002 | g0203 | SAS | STU | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0206 | SAS | STU | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG04204 | hp2 | a0001 | c0002 | t0002 | g0066 | SAS | STU | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18612 | hp1 | a0009 | c0024 | t0002 | g0077 | EAS | CHB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0121 | EAS | CHB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0134 | EAS | CHB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18747 | hp2 | a0001 | c0002 | t0002 | g0065 | EAS | CHB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18906 | hp1 | a0001 | c0003 | t0003 | g0026 | AFR | YRI | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18906 | hp2 | a0001 | c0017 | t0003 | g0013 | AFR | YRI | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18939 | hp2 | a0001 | c0002 | t0020 | g0069 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18959 | hp1 | a0001 | c0001 | t0002 | g0141 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18959 | hp2 | a0001 | c0002 | t0001 | g0087 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18960 | hp1 | a0001 | c0002 | t0018 | g0068 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18960 | hp2 | a0001 | c0001 | t0002 | g0120 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18966 | hp1 | a0001 | c0014 | t0001 | g0084 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18966 | hp2 | a0001 | c0001 | t0004 | g0160 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18969 | hp1 | a0001 | c0006 | t0024 | g0112 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18969 | hp2 | a0001 | c0001 | t0004 | g0168 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18971 | hp1 | a0001 | c0006 | t0001 | g0132 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18971 | hp2 | a0001 | c0014 | t0001 | g0154 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18973 | hp1 | a0001 | c0006 | t0012 | g0115 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18973 | hp2 | a0001 | c0031 | t0004 | g0167 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18981 | hp1 | a0001 | c0002 | t0002 | g0137 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18981 | hp2 | a0001 | c0001 | t0001 | g0138 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18982 | hp1 | a0001 | c0001 | t0026 | g0233 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18982 | hp2 | a0001 | c0006 | t0001 | g0136 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0143 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18983 | hp2 | a0001 | c0001 | t0004 | g0166 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0202 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18984 | hp2 | a0001 | c0023 | t0004 | g0059 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18991 | hp1 | a0001 | c0010 | t0002 | g0103 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18991 | hp2 | a0001 | c0006 | t0012 | g0142 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18993 | hp1 | a0001 | c0001 | t0004 | g0151 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18993 | hp2 | a0001 | c0001 | t0001 | g0174 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18997 | hp1 | a0001 | c0001 | t0002 | g0095 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18997 | hp2 | a0001 | c0002 | t0002 | g0227 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18998 | hp1 | a0001 | c0001 | t0002 | g0127 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18998 | hp2 | a0001 | c0002 | t0001 | g0070 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19000 | hp1 | a0001 | c0001 | t0025 | g0107 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19000 | hp2 | a0001 | c0002 | t0002 | g0091 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19002 | hp1 | a0001 | c0002 | t0002 | g0092 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19002 | hp2 | a0001 | c0001 | t0023 | g0214 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19006 | hp1 | a0001 | c0001 | t0001 | g0172 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19006 | hp2 | a0001 | c0001 | t0004 | g0157 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19009 | hp1 | a0001 | c0002 | t0002 | g0081 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19009 | hp2 | a0001 | c0001 | t0004 | g0173 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0133 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19010 | hp2 | a0001 | c0010 | t0002 | g0113 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19011 | hp1 | a0001 | c0006 | t0012 | g0129 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19011 | hp2 | a0001 | c0001 | t0002 | g0144 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19012 | hp2 | a0001 | c0002 | t0002 | g0083 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19030 | hp1 | a0001 | c0007 | t0005 | g0228 | AFR | LWK | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0019 | AFR | LWK | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19043 | hp1 | a0001 | c0006 | t0027 | g0234 | AFR | LWK | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0034 | AFR | LWK | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19056 | hp1 | a0001 | c0006 | t0012 | g0159 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19056 | hp2 | a0001 | c0002 | t0002 | g0075 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19060 | hp1 | a0001 | c0001 | t0004 | g0161 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19060 | hp2 | a0001 | c0002 | t0002 | g0076 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19065 | hp1 | a0001 | c0027 | t0002 | g0079 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0131 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19066 | hp1 | a0007 | c0022 | t0002 | g0082 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19066 | hp2 | a0001 | c0006 | t0001 | g0148 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19068 | hp1 | a0001 | c0002 | t0002 | g0152 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19079 | hp1 | a0001 | c0002 | t0002 | g0090 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19080 | hp1 | a0001 | c0002 | t0001 | g0093 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19080 | hp2 | a0001 | c0001 | t0002 | g0105 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19081 | hp1 | a0001 | c0002 | t0004 | g0073 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19081 | hp2 | a0001 | c0001 | t0002 | g0139 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19089 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19089 | hp2 | a0001 | c0026 | t0002 | g0155 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19090 | hp2 | a0001 | c0001 | t0004 | g0204 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19240 | hp1 | a0001 | c0001 | t0006 | g0011 | AFR | YRI | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA19240 | hp2 | a0001 | c0005 | t0010 | g0216 | AFR | YRI | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA20752 | hp1 | a0001 | c0002 | t0002 | g0102 | EUR | TSI | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA20752 | hp2 | a0001 | c0003 | t0003 | g0178 | EUR | TSI | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA20905 | hp1 | a0001 | c0011 | t0009 | g0098 | SAS | GIH | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0195 | SAS | GIH | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02109 | hp1 | a0001 | c0003 | t0003 | g0080 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02109 | hp2 | a0001 | c0008 | t0001 | g0211 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02559 | hp1 | a0001 | c0017 | t0003 | g0012 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG02559 | hp2 | a0001 | c0007 | t0005 | g0220 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0018 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG03471 | hp2 | a0001 | c0003 | t0003 | g0197 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG06807 | hp1 | a0001 | c0028 | t0003 | g0229 | AFR | USA | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| HG06807 | hp2 | a0001 | c0007 | t0005 | g0030 | AFR | USA | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18955 | hp1 | a0001 | c0025 | t0003 | g0064 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0230 | AFR | USA | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA20300 | hp2 | a0002 | c0004 | t0007 | g0055 | AFR | USA | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA21309 | hp1 | a0001 | c0003 | t0003 | g0184 | AFR | LWK | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| NA21309 | hp2 | a0001 | c0001 | t0002 | g0188 | AFR | LWK | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0123 | REF | REF | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| homoSapiens_grch38 | hp1 | a0001 | c0002 | t0008 | g0177 | REF | REF | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:119701660
|
C | T | 1 | a0004 | 2 | HG02896.hp1 HG02897.hp1 |
missense_variant | MODERATE | c.5506G>A | p.Ala1836Thr | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/48 | 5591/8736 | 5506/6210 | 1836/2069 | chr12 | 119701660 | ||
| chr12:119708223
|
T | C | 1 | a0002 | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
missense_variant | MODERATE | c.5167A>G | p.Ile1723Val | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/48 | 5252/8736 | 5167/6210 | 1723/2069 | chr12 | 119708223 | ||
| chr12:119752194
|
C | A | 1 | a0010 | 1 | HG03486.hp2 | missense_variant | MODERATE | c.2760G>T | p.Glu920Asp | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/48 | 2845/8736 | 2760/6210 | 920/2069 | chr12 | 119752194 | ||
| chr12:119776804
|
C | T | 1 | a0009 | 1 | NA18612.hp1 | missense_variant | MODERATE | c.1704G>A | p.Met568Ile | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 14/48 | 1789/8736 | 1704/6210 | 568/2069 | chr12 | 119776804 | ||
| chr12:119825199
|
G | C | 1 | a0008 | 1 | HG00733.hp1 | missense_variant | MODERATE | c.923C>G | p.Ser308Cys | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/48 | 1008/8736 | 923/6210 | 308/2069 | chr12 | 119825199 | ||
| chr12:119825200
|
A | C | 1 | a0007 | 1 | NA19066.hp1 | missense_variant | MODERATE | c.922T>G | p.Ser308Ala | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/48 | 1007/8736 | 922/6210 | 308/2069 | chr12 | 119825200 | ||
| chr12:119850238
|
C | T | 1 | a0003 | 2 | HG02717.hp1 HG03130.hp1 |
missense_variant | MODERATE | c.452G>A | p.Arg151Gln | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/48 | 537/8736 | 452/6210 | 151/2069 | chr12 | 119850238 | ||
| chr12:119869066
|
G | A | 1 | a0011 | 1 | HG02293.hp2 | missense_variant | MODERATE | c.232C>T | p.Arg78Trp | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/48 | 317/8736 | 232/6210 | 78/2069 | chr12 | 119869066 | ||
| chr12:119876075
|
G | T | 1 | a0006 | 1 | HG02965.hp1 | missense_variant&splice_region_variant | MODERATE | c.94C>A | p.Gln32Lys | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/48 | 179/8736 | 94/6210 | 32/2069 | chr12 | 119876075 | ||
| chr12:119876149
|
C | T | 1 | a0005 | 1 | HG00741.hp2 | missense_variant | MODERATE | c.20G>A | p.Gly7Glu | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/48 | 105/8736 | 20/6210 | 7/2069 | chr12 | 119876149 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:119688253
|
G | C | 1 | a0001c0026 | 1 | NA19089.hp2 | splice_region_variant&synonymous_variant | LOW | c.6189C>G | p.Val2063Val | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 6274/8736 | 6189/6210 | 2063/2069 | chr12 | 119688253 | ||
| chr12:119690277
|
T | C | 1 | a0001c0010 | 2 | NA18991.hp1 NA19010.hp2 |
synonymous_variant | LOW | c.6060A>G | p.Arg2020Arg | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/48 | 6145/8736 | 6060/6210 | 2020/2069 | chr12 | 119690277 | ||
| chr12:119690382
|
C | A | 1 | a0001c0028 | 1 | HG06807.hp1 | synonymous_variant | LOW | c.5955G>T | p.Pro1985Pro | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/48 | 6040/8736 | 5955/6210 | 1985/2069 | chr12 | 119690382 | ||
| chr12:119697673
|
C | T | 1 | a0001c0015 | 2 | HG01243.hp2 HG03041.hp1 |
synonymous_variant | LOW | c.5868G>A | p.Pro1956Pro | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/48 | 5953/8736 | 5868/6210 | 1956/2069 | chr12 | 119697673 | ||
| chr12:119697691
|
A | G | 1 | a0001c0031 | 1 | NA18973.hp2 | synonymous_variant | LOW | c.5850T>C | p.Thr1950Thr | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/48 | 5935/8736 | 5850/6210 | 1950/2069 | chr12 | 119697691 | ||
| chr12:119701896
|
T | G | 3 | a0001c0005a0001c0007a0001c0028 | 17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
synonymous_variant | LOW | c.5367A>C | p.Gly1789Gly | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 42/48 | 5452/8736 | 5367/6210 | 1789/2069 | chr12 | 119701896 | ||
| chr12:119704429
|
T | G | 1 | a0001c0029 | 1 | HG03942.hp1 | synonymous_variant | LOW | c.5238A>C | p.Ala1746Ala | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/48 | 5323/8736 | 5238/6210 | 1746/2069 | chr12 | 119704429 | ||
| chr12:119708182
|
G | C | 8 | a0001c0005a0001c0007a0001c0009others(5): Show | 39 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
synonymous_variant | LOW | c.5208C>G | p.Gly1736Gly | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/48 | 5293/8736 | 5208/6210 | 1736/2069 | chr12 | 119708182 | ||
| chr12:119710558
|
C | T | 4 | a0001c0006a0001c0008a0008c0033others(1): Show | 14 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(11): Show |
synonymous_variant | LOW | c.4917G>A | p.Thr1639Thr | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 38/48 | 5002/8736 | 4917/6210 | 1639/2069 | chr12 | 119710558 | ||
| chr12:119718330
|
G | A | 1 | a0001c0027 | 1 | NA19065.hp1 | synonymous_variant | LOW | c.4083C>T | p.Ile1361Ile | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/48 | 4168/8736 | 4083/6210 | 1361/2069 | chr12 | 119718330 | ||
| chr12:119718336
|
G | A | 7 | a0001c0003a0001c0017a0001c0025others(4): Show | 32 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(29): Show |
synonymous_variant | LOW | c.4077C>T | p.Ser1359Ser | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/48 | 4162/8736 | 4077/6210 | 1359/2069 | chr12 | 119718336 | ||
| chr12:119718345
|
G | A | 1 | a0001c0012 | 2 | HG03710.hp2 HG04199.hp2 |
synonymous_variant | LOW | c.4068C>T | p.Ile1356Ile | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/48 | 4153/8736 | 4068/6210 | 1356/2069 | chr12 | 119718345 | ||
| chr12:119734190
|
T | C | 26 | a0001c0001a0001c0003a0001c0005others(23): Show | 185 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(182): Show |
synonymous_variant | LOW | c.3324A>G | p.Arg1108Arg | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/48 | 3409/8736 | 3324/6210 | 1108/2069 | chr12 | 119734190 | ||
| chr12:119734337
|
G | T | 1 | a0003c0019 | 2 | HG02717.hp1 HG03130.hp1 |
synonymous_variant | LOW | c.3177C>A | p.Thr1059Thr | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/48 | 3262/8736 | 3177/6210 | 1059/2069 | chr12 | 119734337 | ||
| chr12:119735244
|
G | A | 1 | a0001c0030 | 1 | HG02895.hp2 | synonymous_variant | LOW | c.3072C>T | p.Asp1024Asp | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 25/48 | 3157/8736 | 3072/6210 | 1024/2069 | chr12 | 119735244 | ||
| chr12:119752074
|
A | G | 16 | a0001c0001a0001c0005a0001c0006others(13): Show | 148 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(145): Show |
synonymous_variant | LOW | c.2880T>C | p.Ala960Ala | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/48 | 2965/8736 | 2880/6210 | 960/2069 | chr12 | 119752074 | ||
| chr12:119752083
|
T | C | 13 | a0001c0001a0001c0005a0001c0006others(10): Show | 127 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(124): Show |
synonymous_variant | LOW | c.2871A>G | p.Thr957Thr | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/48 | 2956/8736 | 2871/6210 | 957/2069 | chr12 | 119752083 | ||
| chr12:119752107
|
C | T | 1 | a0001c0025 | 1 | NA18955.hp1 | synonymous_variant | LOW | c.2847G>A | p.Ala949Ala | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/48 | 2932/8736 | 2847/6210 | 949/2069 | chr12 | 119752107 | ||
| chr12:119770806
|
C | T | 2 | a0001c0007a0003c0019 | 8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
synonymous_variant | LOW | c.2187G>A | p.Gln729Gln | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/48 | 2272/8736 | 2187/6210 | 729/2069 | chr12 | 119770806 | ||
| chr12:119782560
|
A | G | 1 | a0001c0023 | 1 | NA18984.hp2 | synonymous_variant | LOW | c.1623T>C | p.Asp541Asp | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/48 | 1708/8736 | 1623/6210 | 541/2069 | chr12 | 119782560 | ||
| chr12:119832834
|
G | A | 1 | a0008c0033 | 1 | HG00733.hp1 | synonymous_variant | LOW | c.690C>T | p.Asp230Asp | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/48 | 775/8736 | 690/6210 | 230/2069 | chr12 | 119832834 | ||
| chr12:119834094
|
G | A | 1 | a0001c0034 | 1 | HG00408.hp1 | synonymous_variant | LOW | c.651C>T | p.Tyr217Tyr | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/48 | 736/8736 | 651/6210 | 217/2069 | chr12 | 119834094 | ||
| chr12:119857694
|
G | A | 2 | a0001c0035a0004c0018 | 3 | HG02896.hp1 HG02897.hp1 HG03209.hp1 |
synonymous_variant | LOW | c.243C>T | p.Ser81Ser | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/48 | 328/8736 | 243/6210 | 81/2069 | chr12 | 119857694 | ||
| chr12:119869082
|
G | A | 1 | a0003c0019 | 2 | HG02717.hp1 HG03130.hp1 |
synonymous_variant | LOW | c.216C>T | p.His72His | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/48 | 301/8736 | 216/6210 | 72/2069 | chr12 | 119869082 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:119686381
|
C | T | 2 | a0001c0002t0018a0001c0002t0020 | 2 | NA18939.hp2 NA18960.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1851G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1851 | chr12 | 119686381 | |||||
| chr12:119686382
|
G | A | 2 | a0001c0005t0010a0001c0005t0022 | 5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1850C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1850 | chr12 | 119686382 | |||||
| chr12:119686480
|
G | A | 1 | a0001c0001t0021 | 1 | HG02027.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1752C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1752 | chr12 | 119686480 | |||||
| chr12:119686588
|
C | A | 1 | a0002c0004t0011 | 4 | HG01168.hp1 HG01169.hp2 HG02809.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1644G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1644 | chr12 | 119686588 | |||||
| chr12:119686731
|
C | T | 1 | a0001c0006t0024 | 1 | NA18969.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1501G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1501 | chr12 | 119686731 | |||||
| chr12:119686732
|
G | T | 2 | a0002c0004t0007a0002c0004t0019 | 8 | HG02258.hp1 HG02280.hp2 HG02818.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*1500C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1500 | chr12 | 119686732 | |||||
| chr12:119686745
|
C | T | 1 | a0002c0004t0011 | 4 | HG01168.hp1 HG01169.hp2 HG02809.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1487G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1487 | chr12 | 119686745 | |||||
| chr12:119686773
|
G | A | 22 | a0001c0001t0003a0001c0001t0005a0001c0002t0014others(19): Show | 59 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(56): Show |
3_prime_UTR_variant | MODIFIER | c.*1459C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1459 | chr12 | 119686773 | |||||
| chr12:119686892
|
T | C | 6 | a0001c0001t0004a0001c0001t0021a0001c0001t0023others(3): Show | 21 | HG00597.hp2 HG01928.hp1 HG01934.hp1 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*1340A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1340 | chr12 | 119686892 | |||||
| chr12:119687342
|
G | A | 2 | a0001c0009t0009a0001c0011t0009 | 5 | HG01106.hp2 HG02630.hp1 HG02809.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*890C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 890 | chr12 | 119687342 | |||||
| chr12:119687435
|
C | T | 13 | a0001c0001t0002a0001c0002t0002a0001c0002t0013others(10): Show | 52 | HG00280.hp1 HG00408.hp2 HG00738.hp1 others(49): Show |
3_prime_UTR_variant | MODIFIER | c.*797G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 797 | chr12 | 119687435 | |||||
| chr12:119687794
|
TA | T | 34 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | 160 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(157): Show |
3_prime_UTR_variant | MODIFIER | c.*437delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 437 | chr12 | 119687794 | |||||
| chr12:119687794
|
TAA | T | 20 | a0001c0001t0003a0001c0001t0006a0001c0002t0014others(17): Show | 52 | HG00733.hp1 HG00733.hp2 HG00735.hp2 others(49): Show |
3_prime_UTR_variant | MODIFIER | c.*436_*437delTT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 436 | chr12 | 119687794 | |||||
| chr12:119687794
|
TAAA | T | 3 | a0001c0001t0016a0001c0003t0017a0001c0005t0010 | 6 | HG01167.hp1 HG02451.hp2 HG02886.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*435_*437delTTT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 435 | chr12 | 119687794 | |||||
| chr12:119688032
|
C | T | 1 | a0001c0001t0015 | 1 | HG01928.hp2 | 3_prime_UTR_variant | MODIFIER | c.*200G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 200 | chr12 | 119688032 | |||||
| chr12:119688103
|
G | A | 2 | a0001c0006t0012a0001c0006t0024 | 5 | NA18969.hp1 NA18973.hp1 NA18991.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*129C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 129 | chr12 | 119688103 | |||||
| chr12:119688115
|
G | A | 1 | a0001c0001t0025 | 1 | NA19000.hp1 | 3_prime_UTR_variant | MODIFIER | c.*117C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 117 | chr12 | 119688115 | |||||
| chr12:119877256
|
G | A | 1 | a0001c0001t0026 | 1 | NA18982.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-21C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/48 | chr12 | 119877256 | ||||||
| chr12:119877267
|
T | C | 2 | a0001c0002t0014a0001c0006t0027 | 3 | HG02976.hp2 HG03579.hp1 NA19043.hp1 |
5_prime_UTR_variant | MODIFIER | c.-32A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/48 | 1099 | chr12 | 119877267 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:119688260
|
G | A | 1 | a0001c0002t0002g0088 | 1 | HG02080.hp2 | splice_region_variant&intron_variant | LOW | c.6187-5C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119688260 | ||||||
| chr12:119688269
|
A | AAGG | 81 | a0001c0001t0003g0106a0001c0001t0003g0111a0001c0001t0005g0020others(78): Show | 81 | HG00733.hp1 HG00733.hp2 HG00735.hp2 others(78): Show |
intron_variant | MODIFIER | c.6187-17_6187-15dup others(3): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119688269 | ||||||
| chr12:119688279
|
G | A | 2 | a0002c0016t0001g0014a0002c0016t0001g0061 | 2 | HG02647.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.6187-24C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119688279 | ||||||
| chr12:119688736
|
C | T | 2 | a0002c0016t0001g0014a0002c0016t0001g0061 | 2 | HG02647.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.6187-481G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119688736 | ||||||
| chr12:119689190
|
AAAAC | A | 59 | a0001c0001t0003g0106a0001c0001t0003g0111a0001c0001t0005g0020others(56): Show | 59 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(56): Show |
intron_variant | MODIFIER | c.6187-939_6187-936d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689190 | ||||||
| chr12:119689194
|
C | CA | 5 | a0001c0009t0009g0036a0001c0009t0009g0039a0001c0009t0009g0043others(2): Show | 5 | HG01106.hp2 HG02630.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.6187-940dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689194 | ||||||
| chr12:119689416
|
G | C | 9 | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032others(6): Show | 9 | HG01168.hp1 HG01169.hp2 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.6186+735C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689416 | ||||||
| chr12:119689533
|
AT | A | 4 | a0002c0004t0011g0035a0002c0004t0011g0038a0002c0004t0011g0056others(1): Show | 4 | HG01168.hp1 HG01169.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.6186+617delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689533 | ||||||
| chr12:119689666
|
C | A | 1 | a0001c0003t0003g0080 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.6186+485G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | ||||||
| chr12:119689666
|
C | CT | 46 | a0001c0001t0001g0131a0001c0001t0002g0095a0001c0001t0002g0105others(43): Show | 46 | HG00735.hp2 HG00738.hp1 HG01106.hp2 others(43): Show |
intron_variant | MODIFIER | c.6186+484dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | ||||||
| chr12:119689666
|
C | CTT | 62 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0034others(59): Show | 62 | HG00280.hp2 HG00408.hp1 HG00597.hp1 others(59): Show |
intron_variant | MODIFIER | c.6186+483_6186+484d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | ||||||
| chr12:119689666
|
C | CTTT | 28 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0133others(25): Show | 28 | HG00733.hp2 HG00738.hp2 HG01069.hp2 others(25): Show |
intron_variant | MODIFIER | c.6186+482_6186+484d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | ||||||
| chr12:119689666
|
C | CTTTT | 9 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0201others(6): Show | 9 | HG02056.hp2 HG02080.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.6186+481_6186+484d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | ||||||
| chr12:119689666
|
C | CTTTTTTT | 5 | a0001c0001t0001g0008a0001c0001t0001g0195a0001c0007t0005g0218others(2): Show | 5 | HG01109.hp1 HG01934.hp2 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.6186+478_6186+484d others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | ||||||
| chr12:119689666
|
CT | C | 7 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(4): Show | 7 | HG02886.hp1 HG02895.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.6186+484delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | ||||||
| chr12:119689666
|
CTTTTTTT others(5): Show |
C | 8 | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032others(5): Show | 8 | HG01168.hp1 HG02717.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.6186+473_6186+484d others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | ||||||
| chr12:119689666
|
CTTTTTTT others(6): Show |
C | 4 | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0016others(1): Show | 4 | HG01169.hp2 HG02257.hp2 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.6186+472_6186+484d others(15): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | ||||||
| chr12:119689666
|
CTTTTTTT others(8): Show |
C | 2 | a0001c0009t0009g0039a0001c0009t0009g0043 | 2 | HG02630.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.6186+470_6186+484d others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | ||||||
| chr12:119689764
|
G | A | 5 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(2): Show | 5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.6186+387C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689764 | ||||||
| chr12:119689770
|
C | T | 9 | a0001c0006t0001g0132a0001c0006t0001g0136a0001c0006t0001g0148others(6): Show | 9 | HG00733.hp1 NA18969.hp1 NA18971.hp1 others(6): Show |
intron_variant | MODIFIER | c.6186+381G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689770 | ||||||
| chr12:119689930
|
C | T | 16 | a0001c0006t0001g0132a0001c0006t0001g0136a0001c0006t0001g0148others(13): Show | 16 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(13): Show |
intron_variant | MODIFIER | c.6186+221G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689930 | ||||||
| chr12:119689943
|
T | C | 7 | a0001c0006t0027g0234a0001c0008t0001g0210a0001c0008t0001g0211others(4): Show | 7 | HG02109.hp2 HG02280.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.6186+208A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689943 | ||||||
| chr12:119690664
|
C | T | 3 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0223 | 3 | HG03239.hp1 HG03688.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.5883-210G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119690664 | ||||||
| chr12:119690769
|
C | T | 23 | a0001c0001t0005g0020a0001c0005t0010g0042a0001c0005t0010g0216others(20): Show | 23 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(20): Show |
intron_variant | MODIFIER | c.5883-315G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119690769 | ||||||
| chr12:119690803
|
G | A | 17 | a0001c0001t0004g0104a0001c0001t0004g0151a0001c0001t0004g0157others(14): Show | 17 | HG00597.hp2 HG02015.hp2 HG02027.hp1 others(14): Show |
intron_variant | MODIFIER | c.5883-349C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119690803 | ||||||
| chr12:119690855
|
T | C | 6 | a0002c0004t0011g0035a0002c0004t0011g0038a0002c0004t0011g0056others(3): Show | 6 | HG01168.hp1 HG01169.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.5883-401A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119690855 | ||||||
| chr12:119690896
|
A | G | 17 | a0001c0001t0005g0020a0001c0005t0010g0042a0001c0005t0010g0216others(14): Show | 17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5883-442T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119690896 | ||||||
| chr12:119690907
|
C | T | 3 | a0001c0007t0005g0218a0001c0007t0005g0219a0001c0007t0005g0220 | 3 | HG01109.hp1 HG02257.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.5883-453G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119690907 | ||||||
| chr12:119691017
|
C | T | 1 | a0001c0025t0003g0064 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.5883-563G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691017 | ||||||
| chr12:119691137
|
A | T | 4 | a0001c0001t0002g0144a0001c0006t0012g0142a0001c0006t0012g0159others(1): Show | 4 | NA18969.hp1 NA18991.hp2 NA19011.hp2 others(1): Show |
intron_variant | MODIFIER | c.5883-683T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691137 | ||||||
| chr12:119691171
|
C | CA | 16 | a0001c0001t0002g0139a0001c0002t0002g0078a0001c0002t0002g0137others(13): Show | 16 | HG01168.hp1 HG01169.hp2 HG02071.hp1 others(13): Show |
intron_variant | MODIFIER | c.5883-718dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691171 | ||||||
| chr12:119691171
|
CA | C | 89 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(86): Show | 89 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(86): Show |
intron_variant | MODIFIER | c.5883-718delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691171 | ||||||
| chr12:119691406
|
C | G | 17 | a0001c0001t0005g0020a0001c0005t0010g0042a0001c0005t0010g0216others(14): Show | 17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5883-952G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691406 | ||||||
| chr12:119691574
|
A | G | 17 | a0001c0001t0005g0020a0001c0005t0010g0042a0001c0005t0010g0216others(14): Show | 17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5883-1120T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691574 | ||||||
| chr12:119691626
|
G | A | 189 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(186): Show | 189 | HG00280.hp2 HG00408.hp1 HG00597.hp1 others(186): Show |
intron_variant | MODIFIER | c.5883-1172C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691626 | ||||||
| chr12:119691642
|
C | T | 2 | a0001c0002t0014g0235a0001c0002t0014g0236 | 2 | HG02976.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.5883-1188G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691642 | ||||||
| chr12:119691837
|
C | T | 3 | a0001c0001t0002g0120a0001c0001t0002g0144a0001c0002t0002g0090 | 3 | NA18960.hp2 NA19011.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.5883-1383G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691837 | ||||||
| chr12:119691982
|
T | C | 1 | a0002c0004t0011g0162 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.5883-1528A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691982 | ||||||
| chr12:119692221
|
G | A | 2 | a0001c0001t0005g0020a0001c0030t0005g0032 | 2 | HG02895.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.5883-1767C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119692221 | ||||||
| chr12:119692507
|
A | C | 5 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(2): Show | 5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.5883-2053T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119692507 | ||||||
| chr12:119692922
|
G | A | 1 | a0001c0003t0003g0031 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.5883-2468C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119692922 | ||||||
| chr12:119693031
|
T | TAAGATGT others(357): Show |
1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.5883-2578_5883-257 others(368): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119693031 | ||||||
| chr12:119693048
|
A | G | 37 | a0001c0001t0005g0020a0001c0005t0010g0042a0001c0005t0010g0216others(34): Show | 37 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(34): Show |
intron_variant | MODIFIER | c.5883-2594T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119693048 | ||||||
| chr12:119693413
|
C | T | 1 | a0002c0004t0011g0162 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.5883-2959G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119693413 | ||||||
| chr12:119693494
|
A | G | 1 | a0001c0001t0001g0097 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.5883-3040T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119693494 | ||||||
| chr12:119693622
|
C | T | 20 | a0001c0006t0001g0132a0001c0006t0001g0136a0001c0006t0001g0148others(17): Show | 20 | HG00733.hp1 HG01168.hp1 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.5883-3168G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119693622 | ||||||
| chr12:119693635
|
G | A | 3 | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032 | 3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5883-3181C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119693635 | ||||||
| chr12:119693935
|
G | A | 22 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(19): Show | 22 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(19): Show |
intron_variant | MODIFIER | c.5883-3481C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119693935 | ||||||
| chr12:119693987
|
A | C | 1 | a0001c0035t0003g0007 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5883-3533T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119693987 | ||||||
| chr12:119694205
|
C | T | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5882+3454G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694205 | ||||||
| chr12:119694234
|
C | T | 3 | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032 | 3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5882+3425G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694234 | ||||||
| chr12:119694350
|
A | C | 6 | a0002c0004t0011g0035a0002c0004t0011g0038a0002c0004t0011g0056others(3): Show | 6 | HG01168.hp1 HG01169.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.5882+3309T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694350 | ||||||
| chr12:119694351
|
G | A | 6 | a0002c0004t0011g0035a0002c0004t0011g0038a0002c0004t0011g0056others(3): Show | 6 | HG01168.hp1 HG01169.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.5882+3308C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694351 | ||||||
| chr12:119694385
|
A | G | 1 | a0001c0005t0008g0182 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.5882+3274T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694385 | ||||||
| chr12:119694427
|
C | T | 6 | a0002c0004t0011g0035a0002c0004t0011g0038a0002c0004t0011g0056others(3): Show | 6 | HG01168.hp1 HG01169.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.5882+3232G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694427 | ||||||
| chr12:119694615
|
G | A | 6 | a0002c0004t0011g0035a0002c0004t0011g0038a0002c0004t0011g0056others(3): Show | 6 | HG01168.hp1 HG01169.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.5882+3044C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694615 | ||||||
| chr12:119694714
|
G | A | 8 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(5): Show | 8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.5882+2945C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694714 | ||||||
| chr12:119694782
|
G | A | 3 | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032 | 3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5882+2877C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694782 | ||||||
| chr12:119694832
|
AAAAT | A | 3 | a0001c0007t0005g0218a0001c0007t0005g0219a0001c0007t0005g0220 | 3 | HG01109.hp1 HG02257.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.5882+2823_5882+282 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694832 | ||||||
| chr12:119694962
|
T | A | 1 | a0001c0001t0004g0194 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.5882+2697A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694962 | ||||||
| chr12:119694992
|
G | A | 3 | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032 | 3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5882+2667C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694992 | ||||||
| chr12:119695113
|
T | C | 5 | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032others(2): Show | 5 | HG02717.hp1 HG02895.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.5882+2546A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695113 | ||||||
| chr12:119695128
|
T | C | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.5882+2531A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695128 | ||||||
| chr12:119695216
|
T | C | 22 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(19): Show | 22 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(19): Show |
intron_variant | MODIFIER | c.5882+2443A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695216 | ||||||
| chr12:119695361
|
C | T | 1 | a0001c0014t0001g0084 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.5882+2298G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695361 | ||||||
| chr12:119695416
|
G | C | 21 | a0001c0001t0004g0104a0001c0001t0004g0146a0001c0001t0004g0151others(18): Show | 21 | HG00597.hp2 HG01928.hp1 HG01934.hp1 others(18): Show |
intron_variant | MODIFIER | c.5882+2243C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695416 | ||||||
| chr12:119695545
|
T | C | 1 | a0001c0013t0005g0029 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.5882+2114A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695545 | ||||||
| chr12:119695685
|
G | A | 235 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(232): Show | 235 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(232): Show |
intron_variant | MODIFIER | c.5882+1974C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695685 | ||||||
| chr12:119695787
|
A | G | 1 | a0001c0001t0001g0109 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.5882+1872T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695787 | ||||||
| chr12:119695800
|
G | A | 17 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(14): Show | 17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5882+1859C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695800 | ||||||
| chr12:119695996
|
C | T | 2 | a0001c0001t0001g0015a0001c0001t0001g0016 | 2 | HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.5882+1663G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695996 | ||||||
| chr12:119696261
|
C | A | 4 | a0001c0002t0014g0235a0001c0002t0014g0236a0002c0004t0003g0044others(1): Show | 4 | HG02622.hp1 HG02965.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.5882+1398G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119696261 | ||||||
| chr12:119696279
|
T | C | 5 | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032others(2): Show | 5 | HG02717.hp1 HG02895.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.5882+1380A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119696279 | ||||||
| chr12:119696491
|
A | C | 2 | a0001c0001t0004g0146a0001c0001t0004g0194 | 2 | HG01928.hp1 HG01934.hp1 |
intron_variant | MODIFIER | c.5882+1168T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119696491 | ||||||
| chr12:119696559
|
C | T | 2 | a0001c0001t0005g0020a0001c0030t0005g0032 | 2 | HG02895.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.5882+1100G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119696559 | ||||||
| chr12:119696659
|
C | T | 1 | a0001c0001t0002g0188 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.5882+1000G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119696659 | ||||||
| chr12:119696660
|
G | A | 2 | a0001c0001t0001g0015a0001c0001t0001g0016 | 2 | HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.5882+999C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119696660 | ||||||
| chr12:119696821
|
C | T | 1 | a0001c0002t0002g0072 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.5882+838G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119696821 | ||||||
| chr12:119697164
|
G | A | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.5882+495C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119697164 | ||||||
| chr12:119697525
|
G | A | 5 | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032others(2): Show | 5 | HG02717.hp1 HG02895.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.5882+134C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119697525 | ||||||
| chr12:119697912
|
G | T | 37 | a0001c0001t0003g0106a0001c0002t0014g0235a0001c0002t0014g0236others(34): Show | 37 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(34): Show |
intron_variant | MODIFIER | c.5702+64C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 45/47 | chr12 | 119697912 | ||||||
| chr12:119698077
|
C | T | 3 | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032 | 3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5624-23G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698077 | ||||||
| chr12:119698124
|
T | C | 36 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(33): Show | 36 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.5624-70A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698124 | ||||||
| chr12:119698301
|
T | C | 2 | a0002c0004t0011g0035a0002c0004t0011g0038 | 2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.5624-247A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698301 | ||||||
| chr12:119698315
|
C | T | 3 | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032 | 3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5624-261G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698315 | ||||||
| chr12:119698403
|
T | A | 22 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(19): Show | 22 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(19): Show |
intron_variant | MODIFIER | c.5624-349A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698403 | ||||||
| chr12:119698467
|
G | A | 17 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(14): Show | 17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5624-413C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698467 | ||||||
| chr12:119698491
|
G | A | 13 | a0001c0006t0001g0132a0001c0006t0001g0136a0001c0006t0001g0148others(10): Show | 13 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.5624-437C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698491 | ||||||
| chr12:119698589
|
C | CA | 14 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(11): Show | 14 | HG02717.hp2 HG02723.hp1 HG02886.hp1 others(11): Show |
intron_variant | MODIFIER | c.5624-536dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698589 | ||||||
| chr12:119698589
|
CA | C | 89 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(86): Show | 89 | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.5624-536delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698589 | ||||||
| chr12:119698589
|
CAA | C | 40 | a0001c0001t0001g0047a0001c0001t0001g0181a0001c0001t0003g0106others(37): Show | 40 | HG00280.hp2 HG00735.hp2 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.5624-537_5624-536d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698589 | ||||||
| chr12:119698608
|
T | A | 14 | a0002c0004t0007g0033a0002c0004t0007g0050a0002c0004t0007g0052others(11): Show | 14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.5624-554A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698608 | ||||||
| chr12:119698705
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.5624-651C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698705 | ||||||
| chr12:119698733
|
G | A | 1 | a0001c0001t0001g0226 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.5624-679C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698733 | ||||||
| chr12:119698768
|
A | G | 50 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(47): Show | 50 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(47): Show |
intron_variant | MODIFIER | c.5624-714T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698768 | ||||||
| chr12:119698863
|
G | A | 17 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(14): Show | 17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5624-809C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698863 | ||||||
| chr12:119698972
|
G | A | 1 | a0001c0002t0002g0088 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.5624-918C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698972 | ||||||
| chr12:119698988
|
C | A | 1 | a0001c0011t0009g0191 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.5624-934G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698988 | ||||||
| chr12:119699021
|
G | A | 14 | a0002c0004t0007g0033a0002c0004t0007g0050a0002c0004t0007g0052others(11): Show | 14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.5624-967C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699021 | ||||||
| chr12:119699063
|
T | G | 1 | a0001c0001t0001g0018 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.5624-1009A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699063 | ||||||
| chr12:119699128
|
C | T | 14 | a0002c0004t0007g0033a0002c0004t0007g0050a0002c0004t0007g0052others(11): Show | 14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.5624-1074G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699128 | ||||||
| chr12:119699177
|
A | T | 1 | a0001c0003t0003g0080 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5624-1123T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699177 | ||||||
| chr12:119699256
|
C | CA | 14 | a0001c0001t0001g0001a0001c0001t0001g0138a0001c0001t0001g0199others(11): Show | 14 | HG02027.hp1 HG02451.hp1 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.5624-1203dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699256 | ||||||
| chr12:119699256
|
CA | C | 18 | a0001c0001t0006g0116a0001c0003t0003g0024a0001c0005t0008g0021others(15): Show | 18 | HG01257.hp1 HG02258.hp1 HG02280.hp2 others(15): Show |
intron_variant | MODIFIER | c.5624-1203delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699256 | ||||||
| chr12:119699256
|
CAA | C | 14 | a0001c0005t0008g0022a0001c0005t0008g0085a0001c0005t0008g0182others(11): Show | 14 | HG01109.hp1 HG02257.hp1 HG02717.hp2 others(11): Show |
intron_variant | MODIFIER | c.5624-1204_5624-120 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699256 | ||||||
| chr12:119699292
|
T | A | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5624-1238A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699292 | ||||||
| chr12:119699315
|
C | A | 17 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(14): Show | 17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5624-1261G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699315 | ||||||
| chr12:119699339
|
TAATACTC | T | 17 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(14): Show | 17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5624-1292_5624-128 others(11): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699339 | ||||||
| chr12:119699348
|
A | T | 1 | a0001c0025t0003g0064 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.5624-1294T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699348 | ||||||
| chr12:119699355
|
C | T | 17 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(14): Show | 17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5624-1301G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699355 | ||||||
| chr12:119699483
|
G | A | 1 | a0001c0001t0004g0104 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.5623+1262C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699483 | ||||||
| chr12:119699489
|
C | T | 17 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(14): Show | 17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5623+1256G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699489 | ||||||
| chr12:119699524
|
C | G | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.5623+1221G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699524 | ||||||
| chr12:119699528
|
G | A | 14 | a0002c0004t0007g0033a0002c0004t0007g0050a0002c0004t0007g0052others(11): Show | 14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.5623+1217C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699528 | ||||||
| chr12:119699566
|
C | A | 17 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(14): Show | 17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5623+1179G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699566 | ||||||
| chr12:119699646
|
A | G | 36 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(33): Show | 36 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.5623+1099T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699646 | ||||||
| chr12:119700118
|
A | G | 2 | a0001c0003t0003g0037a0001c0003t0003g0040 | 2 | HG02451.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.5623+627T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700118 | ||||||
| chr12:119700215
|
G | A | 17 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(14): Show | 17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5623+530C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700215 | ||||||
| chr12:119700234
|
C | A | 1 | a0001c0002t0002g0137 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.5623+511G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700234 | ||||||
| chr12:119700238
|
C | T | 2 | a0001c0015t0006g0004a0001c0015t0006g0023 | 2 | HG01243.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.5623+507G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700238 | ||||||
| chr12:119700381
|
G | GT | 6 | a0001c0001t0001g0019a0001c0001t0001g0140a0001c0002t0001g0058others(3): Show | 6 | HG02293.hp1 HG02293.hp2 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.5623+363dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700381 | ||||||
| chr12:119700501
|
G | A | 22 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(19): Show | 22 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(19): Show |
intron_variant | MODIFIER | c.5623+244C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700501 | ||||||
| chr12:119700580
|
G | A | 1 | a0001c0001t0004g0160 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.5623+165C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700580 | ||||||
| chr12:119700660
|
C | T | 1 | a0001c0001t0001g0034 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.5623+85G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700660 | ||||||
| chr12:119700720
|
A | G | 3 | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032 | 3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5623+25T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700720 | ||||||
| chr12:119700874
|
G | C | 14 | a0002c0004t0007g0033a0002c0004t0007g0050a0002c0004t0007g0052others(11): Show | 14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.5543-49C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119700874 | ||||||
| chr12:119701048
|
A | G | 14 | a0002c0004t0007g0033a0002c0004t0007g0050a0002c0004t0007g0052others(11): Show | 14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.5543-223T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119701048 | ||||||
| chr12:119701060
|
G | A | 17 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(14): Show | 17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5543-235C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119701060 | ||||||
| chr12:119701185
|
AAGGGGGA others(19): Show |
A | 39 | a0001c0001t0005g0020a0001c0002t0018g0068a0001c0002t0020g0069others(36): Show | 39 | HG00741.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
intron_variant | MODIFIER | c.5543-386_5543-361d others(28): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119701185 | ||||||
| chr12:119701233
|
T | A | 1 | a0001c0013t0005g0029 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.5542+391A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119701233 | ||||||
| chr12:119701242
|
G | A | 17 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(14): Show | 17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5542+382C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119701242 | ||||||
| chr12:119701301
|
G | C | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.5542+323C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119701301 | ||||||
| chr12:119701310
|
A | AAAGGGAG others(3): Show |
1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.5542+304_5542+313d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119701310 | ||||||
| chr12:119701440
|
C | G | 20 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(17): Show | 20 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(17): Show |
intron_variant | MODIFIER | c.5542+184G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119701440 | ||||||
| chr12:119701828
|
C | T | 3 | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032 | 3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5413+22G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 42/47 | chr12 | 119701828 | ||||||
| chr12:119702066
|
T | C | 3 | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032 | 3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5305-108A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702066 | ||||||
| chr12:119702108
|
C | CT | 26 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0005t0008g0021others(23): Show | 26 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(23): Show |
intron_variant | MODIFIER | c.5305-151dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702108 | ||||||
| chr12:119702108
|
CT | C | 5 | a0001c0001t0003g0106a0001c0003t0003g0031a0001c0003t0003g0185others(2): Show | 5 | HG01069.hp1 HG01081.hp2 HG03490.hp1 others(2): Show |
intron_variant | MODIFIER | c.5305-151delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702108 | ||||||
| chr12:119702169
|
A | G | 5 | a0001c0009t0009g0036a0001c0009t0009g0039a0001c0009t0009g0043others(2): Show | 5 | HG01106.hp2 HG02630.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.5305-211T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702169 | ||||||
| chr12:119702235
|
A | G | 1 | a0001c0003t0003g0184 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.5305-277T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702235 | ||||||
| chr12:119702413
|
C | A | 1 | a0001c0026t0002g0155 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.5305-455G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702413 | ||||||
| chr12:119702574
|
T | C | 46 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(43): Show | 46 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(43): Show |
intron_variant | MODIFIER | c.5305-616A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702574 | ||||||
| chr12:119702768
|
G | GA | 24 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(21): Show | 24 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.5305-811dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702768 | ||||||
| chr12:119702882
|
T | TATGCAGT others(1): Show |
19 | a0001c0002t0014g0236a0001c0005t0008g0021a0001c0005t0008g0022others(16): Show | 19 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(16): Show |
intron_variant | MODIFIER | c.5305-932_5305-925d others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702882 | ||||||
| chr12:119702990
|
C | T | 3 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0013t0003g0025 | 3 | HG03130.hp2 HG03516.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.5305-1032G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702990 | ||||||
| chr12:119703159
|
G | GA | 37 | a0001c0001t0003g0106a0001c0002t0014g0235a0001c0002t0014g0236others(34): Show | 37 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(34): Show |
intron_variant | MODIFIER | c.5305-1202dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703159 | ||||||
| chr12:119703231
|
C | T | 4 | a0001c0003t0003g0198a0001c0017t0003g0012a0001c0017t0003g0013others(1): Show | 4 | HG02559.hp1 HG03209.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.5304+1132G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703231 | ||||||
| chr12:119703280
|
G | T | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.5304+1083C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703280 | ||||||
| chr12:119703421
|
C | CT | 6 | a0001c0001t0001g0172a0001c0001t0004g0157a0001c0001t0004g0160others(3): Show | 6 | NA18966.hp2 NA18969.hp2 NA19002.hp2 others(3): Show |
intron_variant | MODIFIER | c.5304+941dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703421 | ||||||
| chr12:119703421
|
CT | C | 68 | a0001c0001t0001g0179a0001c0001t0001g0224a0001c0001t0005g0020others(65): Show | 68 | HG00733.hp1 HG00735.hp2 HG01069.hp1 others(65): Show |
intron_variant | MODIFIER | c.5304+941delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703421 | ||||||
| chr12:119703421
|
CTT | C | 6 | a0001c0003t0005g0189a0001c0005t0010g0216a0001c0005t0010g0217others(3): Show | 6 | HG01257.hp2 HG02886.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.5304+940_5304+941d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703421 | ||||||
| chr12:119703481
|
G | A | 36 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(33): Show | 36 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(33): Show |
intron_variant | MODIFIER | c.5304+882C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703481 | ||||||
| chr12:119703512
|
A | G | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.5304+851T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703512 | ||||||
| chr12:119703617
|
G | A | 1 | a0001c0001t0001g0181 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.5304+746C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703617 | ||||||
| chr12:119703742
|
A | G | 39 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(36): Show | 39 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
intron_variant | MODIFIER | c.5304+621T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703742 | ||||||
| chr12:119703796
|
G | T | 41 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(38): Show | 41 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(38): Show |
intron_variant | MODIFIER | c.5304+567C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703796 | ||||||
| chr12:119703923
|
A | G | 1 | a0001c0001t0006g0119 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.5304+440T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703923 | ||||||
| chr12:119703996
|
T | C | 1 | a0007c0022t0002g0082 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.5304+367A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703996 | ||||||
| chr12:119704029
|
TAGAA | T | 3 | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0016 | 3 | HG02257.hp2 HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.5304+330_5304+333d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119704029 | ||||||
| chr12:119704045
|
T | C | 2 | a0001c0017t0003g0012a0001c0017t0003g0013 | 2 | HG02559.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.5304+318A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119704045 | ||||||
| chr12:119704101
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.5304+262C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119704101 | ||||||
| chr12:119704215
|
C | T | 1 | a0001c0002t0002g0081 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.5304+148G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119704215 | ||||||
| chr12:119704243
|
C | T | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5304+120G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119704243 | ||||||
| chr12:119704319
|
G | T | 5 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(2): Show | 5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.5304+44C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119704319 | ||||||
| chr12:119704560
|
C | A | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.5212-105G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119704560 | ||||||
| chr12:119704578
|
G | T | 1 | a0001c0003t0003g0184 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.5212-123C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119704578 | ||||||
| chr12:119704649
|
G | A | 1 | a0001c0001t0001g0147 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.5212-194C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119704649 | ||||||
| chr12:119704678
|
C | T | 39 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(36): Show | 39 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
intron_variant | MODIFIER | c.5212-223G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119704678 | ||||||
| chr12:119704721
|
C | T | 2 | a0001c0002t0002g0045a0001c0002t0002g0046 | 2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.5212-266G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119704721 | ||||||
| chr12:119704788
|
C | T | 41 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(38): Show | 41 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(38): Show |
intron_variant | MODIFIER | c.5212-333G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119704788 | ||||||
| chr12:119704982
|
G | A | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.5212-527C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119704982 | ||||||
| chr12:119705006
|
G | A | 2 | a0001c0001t0001g0133a0001c0001t0001g0145 | 2 | NA19010.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.5212-551C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705006 | ||||||
| chr12:119705051
|
C | T | 55 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(52): Show | 55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.5212-596G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705051 | ||||||
| chr12:119705165
|
G | A | 11 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(8): Show | 11 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.5212-710C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705165 | ||||||
| chr12:119705208
|
C | T | 1 | a0001c0003t0003g0185 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.5212-753G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705208 | ||||||
| chr12:119705473
|
T | C | 1 | a0001c0001t0001g0158 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.5212-1018A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705473 | ||||||
| chr12:119705630
|
G | A | 14 | a0001c0006t0001g0132a0001c0006t0001g0136a0001c0006t0001g0148others(11): Show | 14 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.5212-1175C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705630 | ||||||
| chr12:119705680
|
A | G | 58 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(55): Show | 58 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(55): Show |
intron_variant | MODIFIER | c.5212-1225T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705680 | ||||||
| chr12:119705716
|
G | A | 14 | a0002c0004t0007g0033a0002c0004t0007g0050a0002c0004t0007g0052others(11): Show | 14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.5212-1261C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705716 | ||||||
| chr12:119705744
|
C | A | 41 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(38): Show | 41 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(38): Show |
intron_variant | MODIFIER | c.5212-1289G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705744 | ||||||
| chr12:119705763
|
C | T | 3 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0013t0003g0025 | 3 | HG03130.hp2 HG03516.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.5212-1308G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705763 | ||||||
| chr12:119705770
|
T | A | 3 | a0001c0001t0004g0160a0001c0001t0004g0168a0001c0001t0023g0214 | 3 | NA18966.hp2 NA18969.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.5212-1315A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705770 | ||||||
| chr12:119705771
|
C | CA | 5 | a0001c0003t0003g0026a0001c0003t0003g0198a0001c0013t0003g0025others(2): Show | 5 | HG02717.hp1 HG03516.hp1 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.5212-1317dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705771 | ||||||
| chr12:119705771
|
CA | C | 53 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(50): Show | 53 | HG00597.hp1 HG00597.hp2 HG00735.hp1 others(50): Show |
intron_variant | MODIFIER | c.5212-1317delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705771 | ||||||
| chr12:119705771
|
CAA | C | 49 | a0001c0001t0001g0017a0001c0001t0001g0034a0001c0001t0001g0047others(46): Show | 49 | HG00280.hp2 HG00738.hp2 HG01069.hp2 others(46): Show |
intron_variant | MODIFIER | c.5212-1318_5212-131 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705771 | ||||||
| chr12:119705771
|
CAAA | C | 28 | a0001c0001t0001g0049a0001c0001t0001g0122a0001c0001t0001g0199others(25): Show | 28 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(25): Show |
intron_variant | MODIFIER | c.5212-1319_5212-131 others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705771 | ||||||
| chr12:119705771
|
CAAAA | C | 34 | a0001c0001t0002g0095a0001c0001t0002g0120a0001c0001t0002g0144others(31): Show | 34 | HG00733.hp1 HG00738.hp1 HG01167.hp1 others(31): Show |
intron_variant | MODIFIER | c.5212-1320_5212-131 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705771 | ||||||
| chr12:119705771
|
CAAAAAAA others(4): Show |
C | 1 | a0001c0007t0005g0030 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.5212-1327_5212-131 others(15): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705771 | ||||||
| chr12:119705771
|
CAAAAAAA others(5): Show |
C | 38 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(35): Show | 38 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(35): Show |
intron_variant | MODIFIER | c.5212-1328_5212-131 others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705771 | ||||||
| chr12:119705956
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.5212-1501C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705956 | ||||||
| chr12:119706089
|
C | CA | 20 | a0001c0001t0001g0019a0001c0001t0001g0224a0001c0001t0021g0171others(17): Show | 20 | HG00733.hp1 HG01168.hp2 HG02027.hp1 others(17): Show |
intron_variant | MODIFIER | c.5212-1635dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706089 | ||||||
| chr12:119706089
|
C | CAA | 33 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(30): Show | 33 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(30): Show |
intron_variant | MODIFIER | c.5212-1636_5212-163 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706089 | ||||||
| chr12:119706089
|
C | CAAA | 7 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(4): Show | 7 | HG02280.hp2 HG02886.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.5212-1637_5212-163 others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706089 | ||||||
| chr12:119706456
|
C | T | 55 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(52): Show | 55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.5211+1723G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706456 | ||||||
| chr12:119706602
|
T | TG | 6 | a0001c0003t0003g0183a0001c0003t0003g0192a0001c0003t0003g0208others(3): Show | 6 | HG01243.hp1 HG02451.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.5211+1576dupC | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706602 | ||||||
| chr12:119706692
|
T | C | 1 | a0001c0003t0003g0185 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.5211+1487A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706692 | ||||||
| chr12:119706752
|
A | G | 1 | a0001c0001t0001g0179 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.5211+1427T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706752 | ||||||
| chr12:119706765
|
T | C | 42 | a0001c0001t0026g0233a0001c0005t0008g0021a0001c0005t0008g0022others(39): Show | 42 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(39): Show |
intron_variant | MODIFIER | c.5211+1414A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706765 | ||||||
| chr12:119706789
|
T | C | 1 | a0001c0003t0003g0183 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.5211+1390A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706789 | ||||||
| chr12:119707049
|
A | AACTG | 41 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(38): Show | 41 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(38): Show |
intron_variant | MODIFIER | c.5211+1129_5211+113 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707049 | ||||||
| chr12:119707201
|
A | C | 55 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(52): Show | 55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.5211+978T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707201 | ||||||
| chr12:119707258
|
T | G | 39 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(36): Show | 39 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
intron_variant | MODIFIER | c.5211+921A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707258 | ||||||
| chr12:119707423
|
G | A | 1 | a0002c0016t0001g0061 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.5211+756C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707423 | ||||||
| chr12:119707524
|
G | GT | 39 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(36): Show | 39 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
intron_variant | MODIFIER | c.5211+654dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707524 | ||||||
| chr12:119707691
|
A | G | 41 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(38): Show | 41 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(38): Show |
intron_variant | MODIFIER | c.5211+488T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707691 | ||||||
| chr12:119707768
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.5211+411C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707768 | ||||||
| chr12:119707796
|
G | A | 1 | a0001c0001t0001g0138 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.5211+383C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707796 | ||||||
| chr12:119707806
|
T | C | 2 | a0001c0006t0027g0234a0010c0032t0001g0028 | 2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.5211+373A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707806 | ||||||
| chr12:119707858
|
C | G | 15 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(12): Show | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.5211+321G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707858 | ||||||
| chr12:119708034
|
A | C | 1 | a0001c0001t0003g0111 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.5211+145T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119708034 | ||||||
| chr12:119708048
|
CA | C | 41 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(38): Show | 41 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(38): Show |
intron_variant | MODIFIER | c.5211+130delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119708048 | ||||||
| chr12:119708324
|
C | A | 1 | a0001c0001t0003g0106 | 1 | HG03490.hp1 | splice_region_variant&intron_variant | LOW | c.5072-6G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119708324 | ||||||
| chr12:119708359
|
G | A | 14 | a0001c0006t0001g0132a0001c0006t0001g0136a0001c0006t0001g0148others(11): Show | 14 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.5072-41C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119708359 | ||||||
| chr12:119708487
|
T | A | 58 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(55): Show | 58 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(55): Show |
intron_variant | MODIFIER | c.5072-169A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119708487 | ||||||
| chr12:119708496
|
A | T | 3 | a0001c0003t0003g0128a0001c0003t0003g0150a0001c0029t0003g0187 | 3 | HG01109.hp2 HG03239.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.5072-178T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119708496 | ||||||
| chr12:119708547
|
A | G | 41 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(38): Show | 41 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(38): Show |
intron_variant | MODIFIER | c.5072-229T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119708547 | ||||||
| chr12:119708774
|
C | T | 1 | a0001c0013t0005g0029 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.5072-456G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119708774 | ||||||
| chr12:119709019
|
C | T | 1 | a0001c0003t0003g0086 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.5072-701G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709019 | ||||||
| chr12:119709023
|
TCAGA | T | 39 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(36): Show | 39 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
intron_variant | MODIFIER | c.5072-709_5072-706d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709023 | ||||||
| chr12:119709110
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.5072-792C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709110 | ||||||
| chr12:119709120
|
G | A | 3 | a0001c0003t0003g0128a0001c0003t0003g0150a0001c0003t0003g0205 | 3 | HG01109.hp2 HG03239.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.5072-802C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709120 | ||||||
| chr12:119709160
|
G | A | 55 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(52): Show | 55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.5072-842C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709160 | ||||||
| chr12:119709545
|
C | T | 5 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(2): Show | 5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.5071+706G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709545 | ||||||
| chr12:119709548
|
C | T | 55 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(52): Show | 55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.5071+703G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709548 | ||||||
| chr12:119709603
|
C | T | 1 | a0001c0001t0001g0200 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.5071+648G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709603 | ||||||
| chr12:119709762
|
A | G | 42 | a0001c0001t0003g0106a0001c0005t0008g0021a0001c0005t0008g0022others(39): Show | 42 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(39): Show |
intron_variant | MODIFIER | c.5071+489T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709762 | ||||||
| chr12:119709764
|
G | GAGAGAGA others(3): Show |
1 | a0001c0007t0005g0218 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.5071+486_5071+487i others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709764 | ||||||
| chr12:119709766
|
G | A | 1 | a0001c0001t0006g0125 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.5071+485C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709766 | ||||||
| chr12:119709770
|
G | GAGAA | 4 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0220others(1): Show | 4 | HG02559.hp2 HG02970.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.5071+480_5071+481i others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709770 | ||||||
| chr12:119709772
|
G | GAA | 3 | a0002c0004t0011g0162a0002c0016t0001g0014a0002c0016t0001g0061 | 3 | HG02647.hp2 HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.5071+478_5071+479i others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709772 | ||||||
| chr12:119709774
|
G | A | 29 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(26): Show | 29 | HG01106.hp2 HG01168.hp1 HG01169.hp2 others(26): Show |
intron_variant | MODIFIER | c.5071+477C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709774 | ||||||
| chr12:119709785
|
AGAGTGT | A | 2 | a0001c0001t0001g0034a0001c0001t0005g0020 | 2 | HG03579.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.5071+460_5071+465d others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709785 | ||||||
| chr12:119709785
|
AGAGTGTG others(3): Show |
A | 2 | a0001c0001t0008g0135a0001c0001t0021g0171 | 2 | HG01106.hp1 HG02027.hp1 |
intron_variant | MODIFIER | c.5071+456_5071+465d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709785 | ||||||
| chr12:119709785
|
AGAGTGTG others(7): Show |
A | 3 | a0001c0002t0002g0102a0001c0010t0002g0103a0001c0010t0002g0113 | 3 | NA18991.hp1 NA19010.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.5071+452_5071+465d others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709785 | ||||||
| chr12:119709787
|
AGT | A | 6 | a0001c0001t0004g0161a0001c0002t0002g0076a0001c0002t0002g0092others(3): Show | 6 | HG00741.hp2 HG02451.hp2 NA18984.hp2 others(3): Show |
intron_variant | MODIFIER | c.5071+462_5071+463d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | ||||||
| chr12:119709787
|
AGTGT | A | 27 | a0001c0001t0001g0126a0001c0001t0001g0145a0001c0001t0001g0149others(24): Show | 27 | HG01169.hp1 HG01243.hp1 HG01243.hp2 others(24): Show |
intron_variant | MODIFIER | c.5071+460_5071+463d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | ||||||
| chr12:119709787
|
AGTGTGT | A | 43 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0017others(40): Show | 43 | HG00597.hp1 HG00597.hp2 HG00735.hp1 others(40): Show |
intron_variant | MODIFIER | c.5071+458_5071+463d others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | ||||||
| chr12:119709787
|
AGTGTGTG others(1): Show |
A | 63 | a0001c0001t0001g0009a0001c0001t0001g0019a0001c0001t0001g0047others(60): Show | 63 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(60): Show |
intron_variant | MODIFIER | c.5071+456_5071+463d others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | ||||||
| chr12:119709787
|
AGTGTGTG others(3): Show |
A | 45 | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0016others(42): Show | 45 | HG00280.hp1 HG00408.hp1 HG00741.hp1 others(42): Show |
intron_variant | MODIFIER | c.5071+454_5071+463d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | ||||||
| chr12:119709787
|
AGTGTGTG others(5): Show |
A | 4 | a0001c0002t0002g0066a0001c0003t0003g0193a0001c0003t0005g0186others(1): Show | 4 | HG02922.hp2 HG03130.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.5071+452_5071+463d others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | ||||||
| chr12:119709787
|
AGTGTGTG others(7): Show |
A | 2 | a0001c0003t0003g0197a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.5071+450_5071+463d others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | ||||||
| chr12:119709787
|
AGTGTGTG others(13): Show |
A | 7 | a0001c0006t0001g0148a0001c0006t0012g0115a0001c0006t0012g0129others(4): Show | 7 | HG00733.hp1 NA18969.hp1 NA18973.hp1 others(4): Show |
intron_variant | MODIFIER | c.5071+444_5071+463d others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | ||||||
| chr12:119709787
|
AGTGTGTG others(15): Show |
A | 5 | a0001c0006t0027g0234a0001c0008t0001g0210a0001c0008t0001g0211others(2): Show | 5 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.5071+442_5071+463d others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | ||||||
| chr12:119709787
|
AGTGTGTG others(17): Show |
A | 2 | a0001c0006t0001g0132a0001c0006t0001g0136 | 2 | NA18971.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.5071+440_5071+463d others(26): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | ||||||
| chr12:119709789
|
T | A | 23 | a0001c0001t0001g0200a0001c0007t0005g0030a0001c0007t0005g0062others(20): Show | 23 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(20): Show |
intron_variant | MODIFIER | c.5071+462A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709789 | ||||||
| chr12:119709791
|
T | A | 26 | a0001c0001t0004g0161a0001c0002t0002g0076a0001c0002t0002g0092others(23): Show | 26 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(23): Show |
intron_variant | MODIFIER | c.5071+460A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709791 | ||||||
| chr12:119709793
|
T | A | 43 | a0001c0001t0001g0145a0001c0001t0001g0180a0001c0001t0002g0095others(40): Show | 43 | HG01168.hp1 HG01169.hp1 HG01169.hp2 others(40): Show |
intron_variant | MODIFIER | c.5071+458A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709793 | ||||||
| chr12:119709795
|
T | A | 78 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0017others(75): Show | 78 | HG00597.hp1 HG00597.hp2 HG01167.hp1 others(75): Show |
intron_variant | MODIFIER | c.5071+456A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709795 | ||||||
| chr12:119709797
|
T | A | 72 | a0001c0001t0001g0009a0001c0001t0001g0017a0001c0001t0001g0019others(69): Show | 72 | HG00408.hp2 HG00735.hp2 HG00738.hp1 others(69): Show |
intron_variant | MODIFIER | c.5071+454A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709797 | ||||||
| chr12:119709799
|
T | A | 92 | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0016others(89): Show | 92 | HG00280.hp1 HG00408.hp1 HG00735.hp2 others(89): Show |
intron_variant | MODIFIER | c.5071+452A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709799 | ||||||
| chr12:119709801
|
T | A | 41 | a0001c0002t0002g0066a0001c0003t0003g0080a0001c0003t0003g0086others(38): Show | 41 | HG00735.hp2 HG01081.hp2 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.5071+450A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709801 | ||||||
| chr12:119709803
|
T | A | 30 | a0001c0003t0005g0186a0001c0005t0008g0021a0001c0005t0008g0022others(27): Show | 30 | HG01106.hp2 HG01168.hp1 HG01169.hp2 others(27): Show |
intron_variant | MODIFIER | c.5071+448A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709803 | ||||||
| chr12:119709805
|
T | A | 24 | a0001c0005t0008g0215a0001c0009t0009g0036a0001c0009t0009g0039others(21): Show | 24 | HG01106.hp2 HG01168.hp1 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.5071+446A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709805 | ||||||
| chr12:119709807
|
T | A | 8 | a0001c0005t0008g0215a0001c0009t0009g0036a0001c0009t0009g0039others(5): Show | 8 | HG01106.hp2 HG02630.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.5071+444A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709807 | ||||||
| chr12:119709809
|
T | A | 10 | a0001c0006t0001g0148a0001c0006t0012g0115a0001c0006t0012g0129others(7): Show | 10 | HG00733.hp1 HG02717.hp1 HG03130.hp1 others(7): Show |
intron_variant | MODIFIER | c.5071+442A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709809 | ||||||
| chr12:119709811
|
T | A | 14 | a0001c0006t0001g0148a0001c0006t0012g0115a0001c0006t0012g0129others(11): Show | 14 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.5071+440A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709811 | ||||||
| chr12:119709813
|
T | A | 16 | a0001c0006t0001g0132a0001c0006t0001g0136a0001c0006t0001g0148others(13): Show | 16 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(13): Show |
intron_variant | MODIFIER | c.5071+438A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709813 | ||||||
| chr12:119709815
|
T | A | 15 | a0001c0006t0001g0132a0001c0006t0001g0136a0001c0006t0001g0148others(12): Show | 15 | HG02109.hp2 HG02280.hp1 HG02717.hp1 others(12): Show |
intron_variant | MODIFIER | c.5071+436A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709815 | ||||||
| chr12:119710187
|
C | T | 4 | a0001c0003t0003g0198a0001c0017t0003g0012a0001c0017t0003g0013others(1): Show | 4 | HG02559.hp1 HG03209.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.5071+64G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119710187 | ||||||
| chr12:119710188
|
G | A | 1 | a0001c0001t0001g0206 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.5071+63C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119710188 | ||||||
| chr12:119710430
|
G | A | 1 | a0001c0005t0008g0085 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.4936-44C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 38/47 | chr12 | 119710430 | ||||||
| chr12:119710499
|
T | C | 3 | a0001c0003t0003g0208a0001c0003t0003g0213a0001c0003t0017g0060 | 3 | HG01243.hp1 HG02451.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.4935+41A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 38/47 | chr12 | 119710499 | ||||||
| chr12:119710521
|
G | A | 14 | a0001c0006t0001g0132a0001c0006t0001g0136a0001c0006t0001g0148others(11): Show | 14 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.4935+19C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 38/47 | chr12 | 119710521 | ||||||
| chr12:119710676
|
A | G | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.4855-56T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119710676 | ||||||
| chr12:119711263
|
A | G | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4855-643T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711263 | ||||||
| chr12:119711281
|
G | A | 6 | a0001c0009t0009g0036a0001c0009t0009g0039a0001c0009t0009g0043others(3): Show | 6 | HG01106.hp2 HG02630.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.4855-661C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711281 | ||||||
| chr12:119711467
|
G | A | 14 | a0001c0006t0001g0132a0001c0006t0001g0136a0001c0006t0001g0148others(11): Show | 14 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.4854+711C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711467 | ||||||
| chr12:119711479
|
G | A | 1 | a0001c0003t0003g0080 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.4854+699C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711479 | ||||||
| chr12:119711513
|
T | C | 1 | a0001c0002t0002g0088 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.4854+665A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711513 | ||||||
| chr12:119711668
|
C | T | 55 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(52): Show | 55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.4854+510G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711668 | ||||||
| chr12:119711753
|
A | G | 55 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(52): Show | 55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.4854+425T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711753 | ||||||
| chr12:119711758
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.4854+420C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711758 | ||||||
| chr12:119711937
|
A | G | 14 | a0001c0006t0001g0132a0001c0006t0001g0136a0001c0006t0001g0148others(11): Show | 14 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.4854+241T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711937 | ||||||
| chr12:119712044
|
G | C | 41 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(38): Show | 41 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(38): Show |
intron_variant | MODIFIER | c.4854+134C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119712044 | ||||||
| chr12:119712096
|
A | G | 1 | a0001c0001t0026g0233 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.4854+82T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119712096 | ||||||
| chr12:119712110
|
C | T | 1 | a0001c0001t0001g0179 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.4854+68G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119712110 | ||||||
| chr12:119712141
|
T | TA | 39 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(36): Show | 39 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
intron_variant | MODIFIER | c.4854+36dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119712141 | ||||||
| chr12:119712391
|
C | T | 35 | a0001c0001t0003g0106a0001c0002t0014g0235a0001c0002t0014g0236others(32): Show | 35 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.4685-44G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 36/47 | chr12 | 119712391 | ||||||
| chr12:119712757
|
A | G | 3 | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0016 | 3 | HG02257.hp2 HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.4580-62T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 35/47 | chr12 | 119712757 | ||||||
| chr12:119712941
|
T | C | 1 | a0001c0003t0003g0184 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.4580-246A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 35/47 | chr12 | 119712941 | ||||||
| chr12:119713099
|
T | C | 55 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(52): Show | 55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.4579+104A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 35/47 | chr12 | 119713099 | ||||||
| chr12:119713173
|
A | G | 3 | a0001c0001t0001g0134a0001c0001t0002g0105a0001c0001t0025g0107 | 3 | NA18747.hp1 NA19000.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.4579+30T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 35/47 | chr12 | 119713173 | ||||||
| chr12:119713366
|
G | C | 39 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(36): Show | 39 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
intron_variant | MODIFIER | c.4488-72C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 34/47 | chr12 | 119713366 | ||||||
| chr12:119713393
|
C | T | 2 | a0001c0009t0009g0039a0001c0009t0009g0043 | 2 | HG02630.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.4487+75G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 34/47 | chr12 | 119713393 | ||||||
| chr12:119713397
|
C | T | 1 | a0001c0003t0003g0178 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.4487+71G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 34/47 | chr12 | 119713397 | ||||||
| chr12:119713688
|
T | C | 53 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(50): Show | 53 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(50): Show |
intron_variant | MODIFIER | c.4307-40A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 33/47 | chr12 | 119713688 | ||||||
| chr12:119713688
|
T | G | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.4307-40A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 33/47 | chr12 | 119713688 | ||||||
| chr12:119713696
|
G | A | 1 | a0001c0002t0002g0072 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.4307-48C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 33/47 | chr12 | 119713696 | ||||||
| chr12:119713776
|
G | A | 1 | a0001c0003t0003g0183 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.4307-128C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 33/47 | chr12 | 119713776 | ||||||
| chr12:119713910
|
G | A | 2 | a0001c0006t0012g0115a0001c0006t0012g0129 | 2 | NA18973.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.4307-262C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 33/47 | chr12 | 119713910 | ||||||
| chr12:119714401
|
C | A | 1 | a0001c0003t0003g0080 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.4169-67G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119714401 | ||||||
| chr12:119714409
|
A | G | 1 | a0001c0002t0002g0089 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.4169-75T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119714409 | ||||||
| chr12:119714595
|
C | T | 55 | a0001c0001t0001g0008a0001c0002t0002g0099a0001c0005t0008g0021others(52): Show | 55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.4169-261G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119714595 | ||||||
| chr12:119714635
|
C | T | 13 | a0001c0001t0001g0008a0001c0006t0001g0132a0001c0006t0001g0136others(10): Show | 13 | HG00733.hp1 HG01934.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.4169-301G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119714635 | ||||||
| chr12:119714663
|
G | A | 1 | a0001c0003t0003g0205 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.4169-329C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119714663 | ||||||
| chr12:119714845
|
C | T | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.4169-511G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119714845 | ||||||
| chr12:119714916
|
G | A | 19 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0138others(16): Show | 19 | HG00733.hp1 HG01934.hp2 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.4169-582C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119714916 | ||||||
| chr12:119714938
|
C | T | 60 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0138others(57): Show | 60 | HG00733.hp1 HG00735.hp2 HG01069.hp1 others(57): Show |
intron_variant | MODIFIER | c.4169-604G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119714938 | ||||||
| chr12:119715031
|
A | C | 5 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(2): Show | 5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.4169-697T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715031 | ||||||
| chr12:119715146
|
C | T | 1 | a0001c0001t0001g0200 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.4169-812G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715146 | ||||||
| chr12:119715147
|
G | A | 1 | a0001c0005t0008g0215 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.4169-813C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715147 | ||||||
| chr12:119715415
|
G | A | 1 | a0001c0001t0003g0111 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.4169-1081C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715415 | ||||||
| chr12:119715586
|
G | C | 1 | a0006c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.4169-1252C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715586 | ||||||
| chr12:119715708
|
T | C | 17 | a0001c0001t0001g0008a0001c0006t0001g0132a0001c0006t0001g0136others(14): Show | 17 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(14): Show |
intron_variant | MODIFIER | c.4169-1374A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715708 | ||||||
| chr12:119715775
|
T | C | 2 | a0001c0001t0005g0020a0001c0030t0005g0032 | 2 | HG02895.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4169-1441A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715775 | ||||||
| chr12:119715889
|
A | T | 2 | a0001c0002t0013g0048a0001c0002t0013g0071 | 2 | HG00738.hp1 HG00741.hp1 |
intron_variant | MODIFIER | c.4169-1555T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715889 | ||||||
| chr12:119715943
|
A | G | 20 | a0001c0001t0001g0008a0001c0003t0003g0024a0001c0003t0003g0026others(17): Show | 20 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(17): Show |
intron_variant | MODIFIER | c.4169-1609T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715943 | ||||||
| chr12:119716100
|
G | T | 22 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(19): Show | 22 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.4169-1766C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716100 | ||||||
| chr12:119716151
|
G | C | 3 | a0001c0006t0012g0142a0001c0006t0012g0159a0001c0006t0024g0112 | 3 | NA18969.hp1 NA18991.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.4169-1817C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716151 | ||||||
| chr12:119716193
|
C | T | 1 | a0001c0001t0001g0147 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.4169-1859G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716193 | ||||||
| chr12:119716208
|
T | C | 10 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(7): Show | 10 | HG02717.hp2 HG02723.hp1 HG02886.hp1 others(7): Show |
intron_variant | MODIFIER | c.4169-1874A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716208 | ||||||
| chr12:119716363
|
A | G | 15 | a0001c0001t0001g0008a0001c0006t0001g0132a0001c0006t0001g0136others(12): Show | 15 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.4168+1882T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716363 | ||||||
| chr12:119716378
|
C | CA | 15 | a0001c0001t0002g0095a0001c0002t0001g0087a0001c0002t0002g0066others(12): Show | 15 | HG00280.hp1 HG01106.hp2 HG02523.hp1 others(12): Show |
intron_variant | MODIFIER | c.4168+1866dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | ||||||
| chr12:119716378
|
C | CAA | 25 | a0001c0002t0001g0070a0001c0002t0002g0065a0001c0002t0002g0074others(22): Show | 25 | HG00741.hp1 HG01069.hp1 HG01515.hp1 others(22): Show |
intron_variant | MODIFIER | c.4168+1865_4168+186 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | ||||||
| chr12:119716378
|
C | CAAA | 24 | a0001c0002t0002g0090a0001c0002t0002g0091a0001c0002t0002g0096others(21): Show | 24 | HG00735.hp2 HG00738.hp1 HG01081.hp2 others(21): Show |
intron_variant | MODIFIER | c.4168+1864_4168+186 others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | ||||||
| chr12:119716378
|
C | CAAAAA | 6 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0013t0003g0025others(3): Show | 6 | HG02717.hp1 HG03130.hp1 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.4168+1862_4168+186 others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | ||||||
| chr12:119716378
|
C | CAAAAAAA others(4): Show |
2 | a0001c0001t0005g0020a0001c0030t0005g0032 | 2 | HG02895.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4168+1856_4168+186 others(15): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | ||||||
| chr12:119716378
|
CAAAAAAA | C | 16 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(13): Show | 16 | HG00741.hp2 HG01106.hp1 HG02027.hp1 others(13): Show |
intron_variant | MODIFIER | c.4168+1860_4168+186 others(11): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | ||||||
| chr12:119716378
|
CAAAAAAA others(1): Show |
C | 82 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0017others(79): Show | 82 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.4168+1859_4168+186 others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | ||||||
| chr12:119716378
|
CAAAAAAA others(3): Show |
C | 5 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(2): Show | 5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.4168+1857_4168+186 others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | ||||||
| chr12:119716378
|
CAAAAAAA others(4): Show |
C | 26 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(23): Show | 26 | HG01109.hp1 HG01169.hp2 HG02257.hp1 others(23): Show |
intron_variant | MODIFIER | c.4168+1856_4168+186 others(15): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | ||||||
| chr12:119716378
|
CAAAAAAA others(5): Show |
C | 1 | a0002c0004t0011g0038 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.4168+1855_4168+186 others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | ||||||
| chr12:119716378
|
CAAAAAAA others(7): Show |
C | 1 | a0001c0006t0012g0115 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.4168+1853_4168+186 others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | ||||||
| chr12:119716378
|
CAAAAAAA others(8): Show |
C | 4 | a0001c0006t0012g0129a0001c0006t0012g0142a0001c0006t0012g0159others(1): Show | 4 | NA18969.hp1 NA18991.hp2 NA19011.hp1 others(1): Show |
intron_variant | MODIFIER | c.4168+1852_4168+186 others(19): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | ||||||
| chr12:119716449
|
C | T | 132 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(129): Show | 132 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(129): Show |
intron_variant | MODIFIER | c.4168+1796G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716449 | ||||||
| chr12:119717272
|
G | A | 132 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(129): Show | 132 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(129): Show |
intron_variant | MODIFIER | c.4168+973C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717272 | ||||||
| chr12:119717414
|
C | CT | 3 | a0001c0009t0009g0036a0001c0009t0009g0039a0001c0009t0009g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.4168+830dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717414 | ||||||
| chr12:119717414
|
C | CTT | 32 | a0001c0001t0001g0097a0001c0001t0001g0174a0001c0001t0001g0202others(29): Show | 32 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(29): Show |
intron_variant | MODIFIER | c.4168+829_4168+830d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717414 | ||||||
| chr12:119717414
|
C | CTTT | 33 | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0100others(30): Show | 33 | HG00597.hp1 HG00597.hp2 HG00733.hp1 others(30): Show |
intron_variant | MODIFIER | c.4168+828_4168+830d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717414 | ||||||
| chr12:119717414
|
C | CTTTT | 7 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0004g0161others(4): Show | 7 | HG02015.hp2 HG02027.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.4168+827_4168+830d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717414 | ||||||
| chr12:119717414
|
CTTTTCTT | C | 7 | a0001c0001t0001g0122a0001c0001t0001g0126a0001c0001t0001g0134others(4): Show | 7 | HG02165.hp2 NA18747.hp1 NA18939.hp1 others(4): Show |
intron_variant | MODIFIER | c.4168+824_4168+830d others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717414 | ||||||
| chr12:119717414
|
CTTTTCTT others(1): Show |
C | 54 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0017others(51): Show | 54 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(51): Show |
intron_variant | MODIFIER | c.4168+823_4168+830d others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717414 | ||||||
| chr12:119717418
|
TC | T | 2 | a0001c0001t0001g0143a0001c0001t0004g0166 | 2 | NA18983.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.4168+826delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717418 | ||||||
| chr12:119717419
|
C | CTTT | 6 | a0001c0001t0005g0020a0001c0005t0010g0042a0001c0005t0010g0216others(3): Show | 6 | HG02886.hp1 HG02895.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.4168+823_4168+825d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717419 | ||||||
| chr12:119717419
|
C | T | 77 | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0015others(74): Show | 77 | HG00597.hp1 HG00597.hp2 HG00733.hp1 others(74): Show |
intron_variant | MODIFIER | c.4168+826G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717419 | ||||||
| chr12:119717422
|
T | C | 1 | a0001c0003t0003g0205 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.4168+823A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717422 | ||||||
| chr12:119717424
|
T | C | 1 | a0001c0002t0002g0099 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.4168+821A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717424 | ||||||
| chr12:119717476
|
A | C | 22 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(19): Show | 22 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.4168+769T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717476 | ||||||
| chr12:119717501
|
A | G | 17 | a0001c0001t0001g0008a0001c0006t0001g0132a0001c0006t0001g0136others(14): Show | 17 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(14): Show |
intron_variant | MODIFIER | c.4168+744T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717501 | ||||||
| chr12:119717606
|
A | G | 132 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(129): Show | 132 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(129): Show |
intron_variant | MODIFIER | c.4168+639T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717606 | ||||||
| chr12:119717639
|
T | C | 2 | a0001c0006t0012g0115a0001c0006t0012g0129 | 2 | NA18973.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.4168+606A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717639 | ||||||
| chr12:119717691
|
G | A | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.4168+554C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717691 | ||||||
| chr12:119717755
|
T | C | 1 | a0001c0026t0002g0155 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.4168+490A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717755 | ||||||
| chr12:119717772
|
G | A | 149 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(146): Show | 149 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(146): Show |
intron_variant | MODIFIER | c.4168+473C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717772 | ||||||
| chr12:119717830
|
A | ACTGACTT | 13 | a0001c0001t0001g0008a0001c0006t0001g0132a0001c0006t0001g0136others(10): Show | 13 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.4168+414_4168+415i others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717830 | ||||||
| chr12:119717831
|
C | CTGACTTC others(1): Show |
2 | a0001c0006t0027g0234a0010c0032t0001g0028 | 2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.4168+413_4168+414i others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717831 | ||||||
| chr12:119717834
|
C | CTTTTTTT others(8): Show |
5 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(2): Show | 5 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.4168+410_4168+411i others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717834 | ||||||
| chr12:119717834
|
C | T | 15 | a0001c0001t0001g0008a0001c0006t0001g0132a0001c0006t0001g0136others(12): Show | 15 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.4168+411G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717834 | ||||||
| chr12:119717837
|
TC | T | 2 | a0001c0005t0010g0216a0001c0005t0010g0217 | 2 | HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.4168+407delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717837 | ||||||
| chr12:119717838
|
C | CTTTCTTT others(11): Show |
1 | a0001c0001t0026g0233 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.4168+406_4168+407i others(20): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | ||||||
| chr12:119717838
|
C | CTTTT | 18 | a0001c0001t0004g0169a0001c0007t0005g0030a0001c0007t0005g0062others(15): Show | 18 | HG01109.hp1 HG01169.hp2 HG02257.hp1 others(15): Show |
intron_variant | MODIFIER | c.4168+403_4168+406d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | ||||||
| chr12:119717838
|
C | CTTTTTTT others(3): Show |
2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.4168+397_4168+406d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | ||||||
| chr12:119717838
|
C | CTTTTTTT others(6): Show |
1 | a0001c0001t0002g0105 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.4168+394_4168+406d others(15): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | ||||||
| chr12:119717838
|
C | CTTTTTTT others(10): Show |
24 | a0001c0001t0001g0049a0001c0001t0001g0097a0001c0001t0001g0121others(21): Show | 24 | HG00408.hp2 HG00733.hp2 HG01257.hp1 others(21): Show |
intron_variant | MODIFIER | c.4168+390_4168+406d others(19): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | ||||||
| chr12:119717838
|
C | CTTTTTTT others(11): Show |
32 | a0001c0001t0001g0047a0001c0001t0001g0108a0001c0001t0001g0114others(29): Show | 32 | HG00280.hp2 HG00735.hp1 HG01081.hp1 others(29): Show |
intron_variant | MODIFIER | c.4168+389_4168+406d others(20): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | ||||||
| chr12:119717838
|
C | CTTTTTTT others(12): Show |
22 | a0001c0001t0001g0001a0001c0001t0001g0034a0001c0001t0001g0100others(19): Show | 22 | HG00597.hp1 HG00597.hp2 HG01168.hp2 others(19): Show |
intron_variant | MODIFIER | c.4168+388_4168+406d others(21): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | ||||||
| chr12:119717838
|
C | CTTTTTTT others(13): Show |
13 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0017others(10): Show | 13 | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(10): Show |
intron_variant | MODIFIER | c.4168+387_4168+406d others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | ||||||
| chr12:119717838
|
C | CTTTTTTT others(14): Show |
2 | a0001c0001t0001g0019a0001c0001t0021g0171 | 2 | HG02027.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.4168+406_4168+407i others(23): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | ||||||
| chr12:119717838
|
C | CTTTTTTT others(15): Show |
1 | a0001c0001t0001g0016 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.4168+406_4168+407i others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | ||||||
| chr12:119717838
|
C | CTTTTTTT others(16): Show |
1 | a0001c0001t0001g0015 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.4168+406_4168+407i others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | ||||||
| chr12:119717838
|
C | T | 21 | a0001c0001t0001g0008a0001c0005t0008g0021a0001c0005t0008g0022others(18): Show | 21 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(18): Show |
intron_variant | MODIFIER | c.4168+407G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | ||||||
| chr12:119717838
|
CT | C | 6 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(3): Show | 6 | HG01069.hp1 HG02293.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.4168+406delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | ||||||
| chr12:119717838
|
CTTTTTTT others(5): Show |
C | 1 | a0001c0001t0001g0179 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.4168+395_4168+406d others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | ||||||
| chr12:119717862
|
A | C | 1 | a0001c0029t0003g0187 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.4168+383T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717862 | ||||||
| chr12:119717903
|
G | A | 10 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(7): Show | 10 | HG02717.hp2 HG02723.hp1 HG02886.hp1 others(7): Show |
intron_variant | MODIFIER | c.4168+342C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717903 | ||||||
| chr12:119717904
|
C | G | 1 | a0002c0004t0007g0054 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4168+341G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717904 | ||||||
| chr12:119717910
|
C | T | 132 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(129): Show | 132 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(129): Show |
intron_variant | MODIFIER | c.4168+335G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717910 | ||||||
| chr12:119717926
|
C | T | 110 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(107): Show | 110 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(107): Show |
intron_variant | MODIFIER | c.4168+319G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717926 | ||||||
| chr12:119718020
|
A | G | 17 | a0001c0001t0001g0008a0001c0006t0001g0132a0001c0006t0001g0136others(14): Show | 17 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(14): Show |
intron_variant | MODIFIER | c.4168+225T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119718020 | ||||||
| chr12:119718080
|
T | C | 1 | a0001c0006t0027g0234 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4168+165A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119718080 | ||||||
| chr12:119718186
|
T | C | 1 | a0001c0002t0001g0058 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4168+59A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119718186 | ||||||
| chr12:119718196
|
C | T | 10 | a0001c0001t0001g0008a0001c0006t0001g0132a0001c0006t0001g0136others(7): Show | 10 | HG00733.hp1 HG01934.hp2 NA18969.hp1 others(7): Show |
intron_variant | MODIFIER | c.4168+49G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119718196 | ||||||
| chr12:119718472
|
C | T | 1 | a0001c0001t0002g0188 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.4004-63G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 31/47 | chr12 | 119718472 | ||||||
| chr12:119718603
|
G | A | 149 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(146): Show | 149 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(146): Show |
intron_variant | MODIFIER | c.4003+96C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 31/47 | chr12 | 119718603 | ||||||
| chr12:119719064
|
C | T | 1 | a0001c0009t0009g0039 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.3841-203G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 30/47 | chr12 | 119719064 | ||||||
| chr12:119719404
|
C | T | 2 | a0001c0001t0002g0120a0001c0001t0002g0144 | 2 | NA18960.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.3841-543G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 30/47 | chr12 | 119719404 | ||||||
| chr12:119719540
|
C | A | 132 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(129): Show | 132 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(129): Show |
intron_variant | MODIFIER | c.3841-679G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 30/47 | chr12 | 119719540 | ||||||
| chr12:119719755
|
G | A | 2 | a0001c0001t0001g0123a0001c0001t0001g0153 | 2 | HG01081.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.3840+723C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 30/47 | chr12 | 119719755 | ||||||
| chr12:119719851
|
G | T | 1 | a0001c0002t0014g0235 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.3840+627C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 30/47 | chr12 | 119719851 | ||||||
| chr12:119720083
|
G | A | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.3840+395C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 30/47 | chr12 | 119720083 | ||||||
| chr12:119720091
|
TG | T | 3 | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032 | 3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.3840+386delC | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 30/47 | chr12 | 119720091 | ||||||
| chr12:119720398
|
C | T | 149 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(146): Show | 149 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(146): Show |
intron_variant | MODIFIER | c.3840+80G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 30/47 | chr12 | 119720398 | ||||||
| chr12:119720623
|
C | T | 1 | a0001c0008t0001g0211 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.3733-38G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119720623 | ||||||
| chr12:119720708
|
A | C | 15 | a0001c0001t0001g0008a0001c0006t0001g0132a0001c0006t0001g0136others(12): Show | 15 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.3733-123T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119720708 | ||||||
| chr12:119720715
|
A | T | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.3733-130T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119720715 | ||||||
| chr12:119720724
|
G | T | 149 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(146): Show | 149 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(146): Show |
intron_variant | MODIFIER | c.3733-139C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119720724 | ||||||
| chr12:119720736
|
G | A | 149 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(146): Show | 149 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(146): Show |
intron_variant | MODIFIER | c.3733-151C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119720736 | ||||||
| chr12:119720966
|
T | A | 10 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(7): Show | 10 | HG02717.hp2 HG02723.hp1 HG02886.hp1 others(7): Show |
intron_variant | MODIFIER | c.3732+343A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119720966 | ||||||
| chr12:119721060
|
G | A | 5 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(2): Show | 5 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.3732+249C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119721060 | ||||||
| chr12:119721074
|
C | T | 1 | a0001c0001t0004g0157 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.3732+235G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119721074 | ||||||
| chr12:119721123
|
C | T | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.3732+186G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119721123 | ||||||
| chr12:119721640
|
A | T | 5 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(2): Show | 5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.3592-191T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119721640 | ||||||
| chr12:119721993
|
A | G | 2 | a0001c0001t0005g0020a0001c0030t0005g0032 | 2 | HG02895.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.3592-544T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119721993 | ||||||
| chr12:119722010
|
G | A | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3592-561C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119722010 | ||||||
| chr12:119722116
|
C | G | 132 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(129): Show | 132 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(129): Show |
intron_variant | MODIFIER | c.3592-667G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119722116 | ||||||
| chr12:119722168
|
G | A | 1 | a0001c0002t0002g0078 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.3592-719C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119722168 | ||||||
| chr12:119722317
|
G | A | 122 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(119): Show | 122 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(119): Show |
intron_variant | MODIFIER | c.3592-868C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119722317 | ||||||
| chr12:119723077
|
TA | T | 151 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(148): Show | 151 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(148): Show |
intron_variant | MODIFIER | c.3592-1629delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723077 | ||||||
| chr12:119723078
|
A | T | 2 | a0001c0010t0002g0103a0001c0010t0002g0113 | 2 | NA18991.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.3592-1629T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723078 | ||||||
| chr12:119723343
|
C | T | 2 | a0001c0003t0003g0024a0001c0003t0003g0026 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3592-1894G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723343 | ||||||
| chr12:119723382
|
T | C | 1 | a0001c0002t0013g0048 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.3592-1933A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723382 | ||||||
| chr12:119723395
|
AT | A | 12 | a0001c0001t0001g0001a0001c0001t0001g0133a0001c0001t0001g0138others(9): Show | 12 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.3592-1947delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723395 | ||||||
| chr12:119723396
|
T | TA | 2 | a0002c0004t0011g0162a0002c0004t0019g0051 | 2 | HG02965.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.3592-1948_3592-194 others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723396 | ||||||
| chr12:119723396
|
TTA | T | 121 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(118): Show | 121 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(118): Show |
intron_variant | MODIFIER | c.3592-1949_3592-194 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723396 | ||||||
| chr12:119723396
|
TTAA | T | 3 | a0001c0001t0003g0106a0003c0019t0003g0002a0003c0019t0003g0231 | 3 | HG02717.hp1 HG03130.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.3592-1950_3592-194 others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723396 | ||||||
| chr12:119723397
|
T | A | 13 | a0002c0004t0007g0033a0002c0004t0007g0050a0002c0004t0007g0052others(10): Show | 13 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.3592-1948A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723397 | ||||||
| chr12:119723419
|
T | C | 2 | a0001c0003t0003g0128a0001c0003t0003g0150 | 2 | HG01109.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.3592-1970A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723419 | ||||||
| chr12:119723516
|
G | A | 152 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(149): Show | 152 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(149): Show |
intron_variant | MODIFIER | c.3592-2067C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723516 | ||||||
| chr12:119723596
|
T | G | 100 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(97): Show | 100 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(97): Show |
intron_variant | MODIFIER | c.3592-2147A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723596 | ||||||
| chr12:119723688
|
T | C | 3 | a0001c0009t0009g0036a0001c0009t0009g0039a0001c0009t0009g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.3592-2239A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723688 | ||||||
| chr12:119724013
|
G | A | 1 | a0002c0004t0011g0162 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3592-2564C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724013 | ||||||
| chr12:119724015
|
G | A | 17 | a0001c0001t0001g0008a0001c0006t0001g0132a0001c0006t0001g0136others(14): Show | 17 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(14): Show |
intron_variant | MODIFIER | c.3592-2566C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724015 | ||||||
| chr12:119724108
|
G | A | 3 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0228 | 3 | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3592-2659C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724108 | ||||||
| chr12:119724163
|
G | C | 2 | a0001c0003t0003g0037a0001c0003t0003g0040 | 2 | HG02451.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3592-2714C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724163 | ||||||
| chr12:119724171
|
T | C | 3 | a0001c0009t0009g0036a0001c0009t0009g0039a0001c0009t0009g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.3592-2722A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724171 | ||||||
| chr12:119724393
|
T | C | 152 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(149): Show | 152 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(149): Show |
intron_variant | MODIFIER | c.3592-2944A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724393 | ||||||
| chr12:119724394
|
G | A | 132 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(129): Show | 132 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(129): Show |
intron_variant | MODIFIER | c.3592-2945C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724394 | ||||||
| chr12:119724523
|
G | T | 4 | a0002c0004t0007g0033a0002c0004t0007g0053a0002c0004t0007g0055others(1): Show | 4 | HG02280.hp2 HG02886.hp2 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.3592-3074C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724523 | ||||||
| chr12:119724541
|
G | A | 39 | a0001c0002t0001g0087a0001c0002t0002g0081a0001c0002t0002g0088others(36): Show | 39 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(36): Show |
intron_variant | MODIFIER | c.3592-3092C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724541 | ||||||
| chr12:119724641
|
C | T | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.3592-3192G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724641 | ||||||
| chr12:119724677
|
C | T | 1 | a0001c0001t0001g0195 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.3592-3228G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724677 | ||||||
| chr12:119724763
|
C | A | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3592-3314G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724763 | ||||||
| chr12:119724812
|
A | G | 192 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(189): Show | 192 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(189): Show |
intron_variant | MODIFIER | c.3592-3363T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724812 | ||||||
| chr12:119724829
|
C | T | 1 | a0001c0005t0008g0022 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.3592-3380G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724829 | ||||||
| chr12:119724910
|
G | A | 2 | a0001c0001t0001g0123a0001c0001t0001g0153 | 2 | HG01081.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.3592-3461C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724910 | ||||||
| chr12:119724914
|
G | C | 1 | a0001c0001t0025g0107 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.3592-3465C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724914 | ||||||
| chr12:119724930
|
C | CA | 87 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(84): Show | 87 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.3592-3482dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724930 | ||||||
| chr12:119724930
|
C | CAA | 18 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0117others(15): Show | 18 | HG00735.hp1 HG01069.hp2 HG01258.hp1 others(15): Show |
intron_variant | MODIFIER | c.3592-3483_3592-348 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724930 | ||||||
| chr12:119724930
|
CA | C | 49 | a0001c0001t0002g0095a0001c0001t0005g0020a0001c0002t0001g0070others(46): Show | 49 | HG00408.hp1 HG01069.hp1 HG01081.hp2 others(46): Show |
intron_variant | MODIFIER | c.3592-3482delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724930 | ||||||
| chr12:119724930
|
CAA | C | 17 | a0001c0001t0001g0008a0001c0002t0002g0099a0001c0002t0002g0156others(14): Show | 17 | HG00733.hp1 HG01515.hp1 HG01934.hp2 others(14): Show |
intron_variant | MODIFIER | c.3592-3483_3592-348 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724930 | ||||||
| chr12:119724930
|
CAAAAAAA others(11): Show |
C | 15 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(12): Show | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.3592-3499_3592-348 others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724930 | ||||||
| chr12:119725034
|
T | C | 10 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(7): Show | 10 | HG02717.hp2 HG02723.hp1 HG02886.hp1 others(7): Show |
intron_variant | MODIFIER | c.3591+3468A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119725034 | ||||||
| chr12:119725318
|
C | T | 30 | a0001c0002t0001g0087a0001c0002t0002g0081a0001c0002t0002g0088others(27): Show | 30 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(27): Show |
intron_variant | MODIFIER | c.3591+3184G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119725318 | ||||||
| chr12:119725383
|
G | A | 5 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(2): Show | 5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.3591+3119C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119725383 | ||||||
| chr12:119725469
|
C | T | 1 | a0001c0003t0003g0031 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.3591+3033G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119725469 | ||||||
| chr12:119725932
|
C | A | 1 | a0001c0026t0002g0155 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.3591+2570G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119725932 | ||||||
| chr12:119725960
|
T | A | 2 | a0001c0006t0027g0234a0010c0032t0001g0028 | 2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.3591+2542A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119725960 | ||||||
| chr12:119726011
|
C | CGT | 5 | a0001c0001t0005g0020a0001c0003t0003g0080a0001c0011t0009g0191others(2): Show | 5 | HG01106.hp2 HG02109.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.3591+2489_3591+249 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | ||||||
| chr12:119726011
|
C | CGTGTGTG others(1): Show |
6 | a0002c0004t0003g0044a0002c0004t0011g0035a0002c0004t0011g0038others(3): Show | 6 | HG01168.hp1 HG01169.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.3591+2483_3591+249 others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | ||||||
| chr12:119726011
|
C | CGTGTGTG others(3): Show |
1 | a0002c0004t0011g0162 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3591+2481_3591+249 others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | ||||||
| chr12:119726011
|
C | CGTGTGTG others(5): Show |
8 | a0002c0004t0007g0033a0002c0004t0007g0050a0002c0004t0007g0052others(5): Show | 8 | HG02258.hp1 HG02280.hp2 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.3591+2479_3591+249 others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | ||||||
| chr12:119726011
|
C | CGTGTGTG others(7): Show |
12 | a0001c0006t0001g0148a0001c0006t0012g0115a0001c0006t0012g0129others(9): Show | 12 | HG00733.hp1 HG01109.hp1 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.3591+2477_3591+249 others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | ||||||
| chr12:119726011
|
C | CGTGTGTG others(9): Show |
8 | a0001c0006t0001g0132a0001c0006t0001g0136a0001c0006t0027g0234others(5): Show | 8 | HG02630.hp1 HG02717.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.3591+2475_3591+249 others(20): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | ||||||
| chr12:119726011
|
C | CGTGTGTG others(11): Show |
3 | a0001c0007t0005g0030a0001c0007t0005g0228a0001c0028t0003g0229 | 3 | HG06807.hp1 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3591+2473_3591+249 others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | ||||||
| chr12:119726011
|
CGT | C | 3 | a0001c0001t0001g0202a0001c0023t0004g0059a0001c0026t0002g0155 | 3 | NA18984.hp1 NA18984.hp2 NA19089.hp2 |
intron_variant | MODIFIER | c.3591+2489_3591+249 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | ||||||
| chr12:119726011
|
CGTGT | C | 105 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(102): Show | 105 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(102): Show |
intron_variant | MODIFIER | c.3591+2487_3591+249 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | ||||||
| chr12:119726011
|
CGTGTGT | C | 3 | a0001c0001t0004g0160a0001c0001t0004g0168a0001c0001t0023g0214 | 3 | NA18966.hp2 NA18969.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.3591+2485_3591+249 others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | ||||||
| chr12:119726035
|
T | TGTGTGTG others(8): Show |
1 | a0001c0001t0001g0008 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.3591+2466_3591+246 others(19): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726035 | ||||||
| chr12:119726039
|
G | A | 1 | a0001c0002t0002g0074 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.3591+2463C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726039 | ||||||
| chr12:119726124
|
T | G | 1 | a0001c0001t0001g0130 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.3591+2378A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726124 | ||||||
| chr12:119726154
|
G | A | 1 | a0001c0011t0009g0191 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.3591+2348C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726154 | ||||||
| chr12:119726290
|
C | T | 1 | a0001c0012t0002g0101 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.3591+2212G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726290 | ||||||
| chr12:119726378
|
T | C | 100 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(97): Show | 100 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(97): Show |
intron_variant | MODIFIER | c.3591+2124A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726378 | ||||||
| chr12:119726385
|
A | AT | 15 | a0001c0001t0001g0122a0001c0001t0001g0181a0001c0002t0002g0066others(12): Show | 15 | HG01106.hp2 HG01169.hp2 HG01243.hp1 others(12): Show |
intron_variant | MODIFIER | c.3591+2116dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726385 | ||||||
| chr12:119726385
|
A | ATT | 90 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(87): Show | 90 | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(87): Show |
intron_variant | MODIFIER | c.3591+2115_3591+211 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726385 | ||||||
| chr12:119726385
|
A | ATTT | 33 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0047others(30): Show | 33 | HG00280.hp2 HG00733.hp2 HG01069.hp2 others(30): Show |
intron_variant | MODIFIER | c.3591+2114_3591+211 others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726385 | ||||||
| chr12:119726385
|
AT | A | 9 | a0001c0002t0002g0227a0001c0003t0003g0185a0001c0007t0005g0030others(6): Show | 9 | HG01081.hp2 HG01109.hp1 HG02257.hp1 others(6): Show |
intron_variant | MODIFIER | c.3591+2116delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726385 | ||||||
| chr12:119726385
|
ATT | A | 9 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0182others(6): Show | 9 | HG02717.hp2 HG02723.hp1 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.3591+2115_3591+211 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726385 | ||||||
| chr12:119726385
|
ATTTTTTT others(8): Show |
A | 1 | a0001c0005t0008g0085 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.3591+2102_3591+211 others(19): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726385 | ||||||
| chr12:119726459
|
T | C | 149 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(146): Show | 149 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(146): Show |
intron_variant | MODIFIER | c.3591+2043A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726459 | ||||||
| chr12:119726478
|
C | T | 132 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(129): Show | 132 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(129): Show |
intron_variant | MODIFIER | c.3591+2024G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726478 | ||||||
| chr12:119726621
|
C | T | 10 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(7): Show | 10 | HG02717.hp2 HG02723.hp1 HG02886.hp1 others(7): Show |
intron_variant | MODIFIER | c.3591+1881G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726621 | ||||||
| chr12:119726685
|
G | C | 18 | a0001c0001t0015g0094a0002c0004t0003g0044a0002c0004t0007g0033others(15): Show | 18 | HG01168.hp1 HG01169.hp2 HG01928.hp2 others(15): Show |
intron_variant | MODIFIER | c.3591+1817C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726685 | ||||||
| chr12:119726837
|
G | A | 5 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(2): Show | 5 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.3591+1665C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726837 | ||||||
| chr12:119726959
|
A | G | 1 | a0001c0001t0001g0131 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.3591+1543T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726959 | ||||||
| chr12:119726968
|
A | C | 1 | a0001c0001t0002g0095 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.3591+1534T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726968 | ||||||
| chr12:119727264
|
C | T | 15 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(12): Show | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.3591+1238G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727264 | ||||||
| chr12:119727275
|
T | C | 1 | a0001c0002t0002g0137 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.3591+1227A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727275 | ||||||
| chr12:119727350
|
A | G | 134 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(131): Show | 134 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(131): Show |
intron_variant | MODIFIER | c.3591+1152T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727350 | ||||||
| chr12:119727377
|
C | G | 125 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(122): Show | 125 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(122): Show |
intron_variant | MODIFIER | c.3591+1125G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727377 | ||||||
| chr12:119727526
|
A | G | 1 | a0002c0016t0001g0061 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3591+976T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727526 | ||||||
| chr12:119727530
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.3591+972C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727530 | ||||||
| chr12:119727569
|
C | T | 1 | a0001c0001t0002g0188 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3591+933G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727569 | ||||||
| chr12:119727639
|
T | A | 1 | a0001c0001t0001g0201 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.3591+863A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727639 | ||||||
| chr12:119727753
|
AC | A | 7 | a0001c0003t0003g0080a0001c0003t0003g0183a0001c0003t0003g0192others(4): Show | 7 | HG01243.hp1 HG02109.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.3591+748delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727753 | ||||||
| chr12:119727781
|
T | C | 1 | a0001c0025t0003g0064 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3591+721A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727781 | ||||||
| chr12:119727793
|
G | A | 39 | a0001c0001t0002g0095a0001c0002t0001g0070a0001c0002t0001g0087others(36): Show | 39 | HG00408.hp1 HG01515.hp1 HG02015.hp1 others(36): Show |
intron_variant | MODIFIER | c.3591+709C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727793 | ||||||
| chr12:119727827
|
G | A | 1 | a0001c0002t0002g0099 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3591+675C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727827 | ||||||
| chr12:119727922
|
C | CA | 6 | a0001c0006t0027g0234a0001c0009t0009g0036a0001c0009t0009g0039others(3): Show | 6 | HG02630.hp1 HG02809.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.3591+579dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727922 | ||||||
| chr12:119727922
|
CA | C | 21 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(18): Show | 21 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.3591+579delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727922 | ||||||
| chr12:119728645
|
G | C | 21 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(18): Show | 21 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.3487-39C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119728645 | ||||||
| chr12:119728691
|
G | A | 3 | a0001c0001t0005g0020a0001c0013t0005g0029a0001c0030t0005g0032 | 3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.3487-85C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119728691 | ||||||
| chr12:119728692
|
G | A | 21 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(18): Show | 21 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.3487-86C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119728692 | ||||||
| chr12:119728805
|
T | C | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.3487-199A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119728805 | ||||||
| chr12:119728913
|
C | T | 10 | a0001c0001t0001g0008a0001c0006t0001g0132a0001c0006t0001g0136others(7): Show | 10 | HG00733.hp1 HG01934.hp2 NA18969.hp1 others(7): Show |
intron_variant | MODIFIER | c.3487-307G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119728913 | ||||||
| chr12:119728982
|
G | C | 2 | a0001c0001t0002g0120a0001c0001t0002g0144 | 2 | NA18960.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.3487-376C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119728982 | ||||||
| chr12:119729350
|
C | T | 149 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(146): Show | 149 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(146): Show |
intron_variant | MODIFIER | c.3487-744G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119729350 | ||||||
| chr12:119729367
|
T | C | 1 | a0001c0003t0003g0184 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3487-761A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119729367 | ||||||
| chr12:119729446
|
TATA | T | 21 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(18): Show | 21 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.3487-843_3487-841d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119729446 | ||||||
| chr12:119729840
|
T | C | 15 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(12): Show | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.3486+655A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119729840 | ||||||
| chr12:119729972
|
T | C | 4 | a0001c0001t0001g0143a0001c0001t0004g0151a0001c0001t0004g0166others(1): Show | 4 | NA18973.hp2 NA18983.hp1 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.3486+523A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119729972 | ||||||
| chr12:119730099
|
C | T | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3486+396G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119730099 | ||||||
| chr12:119730107
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.3486+388C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119730107 | ||||||
| chr12:119730455
|
G | A | 1 | a0001c0002t0002g0089 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.3486+40C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119730455 | ||||||
| chr12:119730715
|
G | A | 21 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(18): Show | 21 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.3351-85C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119730715 | ||||||
| chr12:119731119
|
T | C | 21 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(18): Show | 21 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.3351-489A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731119 | ||||||
| chr12:119731121
|
G | C | 149 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(146): Show | 149 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(146): Show |
intron_variant | MODIFIER | c.3351-491C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731121 | ||||||
| chr12:119731203
|
A | G | 21 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(18): Show | 21 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.3351-573T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731203 | ||||||
| chr12:119731213
|
G | A | 6 | a0001c0003t0003g0183a0001c0003t0003g0192a0001c0003t0003g0208others(3): Show | 6 | HG01243.hp1 HG02451.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.3351-583C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731213 | ||||||
| chr12:119731405
|
GGCAGAGT others(23): Show |
G | 5 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(2): Show | 5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.3351-805_3351-776d others(32): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731405 | ||||||
| chr12:119731436
|
C | T | 5 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(2): Show | 5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.3351-806G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731436 | ||||||
| chr12:119731438
|
G | C | 5 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(2): Show | 5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.3351-808C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731438 | ||||||
| chr12:119731439
|
C | A | 5 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(2): Show | 5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.3351-809G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731439 | ||||||
| chr12:119731456
|
C | T | 3 | a0001c0009t0009g0036a0001c0009t0009g0039a0001c0009t0009g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.3351-826G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731456 | ||||||
| chr12:119731475
|
CA | C | 126 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(123): Show | 126 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(123): Show |
intron_variant | MODIFIER | c.3351-846delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731475 | ||||||
| chr12:119731733
|
A | G | 1 | a0001c0001t0015g0094 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.3351-1103T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731733 | ||||||
| chr12:119731813
|
A | AATATATA others(5): Show |
3 | a0001c0007t0005g0218a0001c0007t0005g0219a0001c0007t0005g0220 | 3 | HG01109.hp1 HG02257.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.3351-1184_3351-118 others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731813 | ||||||
| chr12:119731813
|
A | AATATATA others(7): Show |
3 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0228 | 3 | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3351-1184_3351-118 others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731813 | ||||||
| chr12:119731813
|
AAT | A | 73 | a0001c0001t0002g0095a0001c0002t0001g0070a0001c0002t0001g0087others(70): Show | 73 | HG00280.hp1 HG00408.hp1 HG00735.hp2 others(70): Show |
intron_variant | MODIFIER | c.3351-1185_3351-118 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731813 | ||||||
| chr12:119731813
|
AATAT | A | 4 | a0001c0001t0005g0020a0001c0003t0003g0192a0001c0013t0005g0029others(1): Show | 4 | HG02895.hp2 HG03098.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.3351-1187_3351-118 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731813 | ||||||
| chr12:119731813
|
AATATAT | A | 3 | a0001c0001t0001g0179a0001c0028t0003g0229a0002c0016t0001g0061 | 3 | HG02818.hp1 HG03017.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.3351-1189_3351-118 others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731813 | ||||||
| chr12:119731813
|
AATATATA others(1): Show |
A | 125 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(122): Show | 125 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(122): Show |
intron_variant | MODIFIER | c.3351-1191_3351-118 others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731813 | ||||||
| chr12:119731840
|
A | ATATATAT others(2): Show |
2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3351-1211_3351-121 others(13): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731840 | ||||||
| chr12:119731840
|
A | ATATATAT others(6): Show |
4 | a0002c0004t0007g0050a0002c0004t0007g0052a0002c0004t0007g0054others(1): Show | 4 | HG02258.hp1 HG02818.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.3351-1211_3351-121 others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731840 | ||||||
| chr12:119731840
|
A | ATATATAT others(8): Show |
2 | a0002c0004t0003g0044a0002c0004t0011g0056 | 2 | HG02622.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.3351-1211_3351-121 others(19): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731840 | ||||||
| chr12:119731840
|
A | ATATATAT others(12): Show |
2 | a0002c0004t0011g0035a0002c0004t0011g0038 | 2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.3351-1211_3351-121 others(23): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731840 | ||||||
| chr12:119731840
|
A | ATATATAT others(16): Show |
2 | a0002c0004t0007g0053a0002c0004t0019g0051 | 2 | HG02280.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.3351-1211_3351-121 others(27): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731840 | ||||||
| chr12:119731840
|
A | ATATATAT others(20): Show |
1 | a0002c0004t0007g0033 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3351-1211_3351-121 others(31): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731840 | ||||||
| chr12:119731840
|
A | ATATATAT others(22): Show |
1 | a0002c0004t0007g0055 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.3351-1211_3351-121 others(33): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731840 | ||||||
| chr12:119731840
|
A | ATATATAT others(38): Show |
1 | a0002c0004t0011g0162 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3351-1211_3351-121 others(49): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731840 | ||||||
| chr12:119731841
|
C | T | 15 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(12): Show | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.3351-1211G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731841 | ||||||
| chr12:119731842
|
T | C | 1 | a0001c0013t0003g0025 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.3351-1212A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731842 | ||||||
| chr12:119731846
|
T | A | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3351-1216A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731846 | ||||||
| chr12:119731875
|
G | A | 1 | a0001c0035t0003g0007 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3351-1245C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731875 | ||||||
| chr12:119732281
|
G | A | 1 | a0001c0002t0002g0066 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.3351-1651C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119732281 | ||||||
| chr12:119732532
|
C | A | 4 | a0001c0003t0003g0208a0001c0003t0003g0209a0001c0003t0003g0213others(1): Show | 4 | HG01243.hp1 HG02451.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.3350+1632G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119732532 | ||||||
| chr12:119732712
|
A | T | 56 | a0001c0001t0001g0008a0001c0001t0001g0100a0001c0001t0002g0095others(53): Show | 56 | HG00597.hp1 HG00733.hp1 HG00735.hp2 others(53): Show |
intron_variant | MODIFIER | c.3350+1452T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119732712 | ||||||
| chr12:119732757
|
T | C | 1 | a0001c0001t0001g0223 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.3350+1407A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119732757 | ||||||
| chr12:119733028
|
C | T | 5 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(2): Show | 5 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.3350+1136G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733028 | ||||||
| chr12:119733106
|
T | C | 166 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(163): Show | 166 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(163): Show |
intron_variant | MODIFIER | c.3350+1058A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733106 | ||||||
| chr12:119733232
|
G | GA | 7 | a0001c0001t0001g0034a0001c0001t0001g0117a0001c0001t0001g0118others(4): Show | 7 | HG00738.hp2 HG01069.hp2 HG01106.hp1 others(4): Show |
intron_variant | MODIFIER | c.3350+931dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733232 | ||||||
| chr12:119733271
|
T | C | 3 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212 | 3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.3350+893A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733271 | ||||||
| chr12:119733358
|
C | T | 18 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0228others(15): Show | 18 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(15): Show |
intron_variant | MODIFIER | c.3350+806G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733358 | ||||||
| chr12:119733362
|
T | C | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3350+802A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733362 | ||||||
| chr12:119733434
|
TGAA | T | 30 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(27): Show | 30 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(27): Show |
intron_variant | MODIFIER | c.3350+727_3350+729d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733434 | ||||||
| chr12:119733519
|
G | C | 1 | a0001c0001t0008g0135 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.3350+645C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733519 | ||||||
| chr12:119733529
|
C | CA | 19 | a0001c0001t0001g0172a0001c0001t0001g0230a0001c0001t0004g0157others(16): Show | 19 | HG00408.hp1 HG01928.hp2 HG02015.hp1 others(16): Show |
intron_variant | MODIFIER | c.3350+634dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733529 | ||||||
| chr12:119733529
|
CA | C | 65 | a0001c0001t0001g0008a0001c0001t0001g0100a0001c0001t0002g0095others(62): Show | 65 | HG00597.hp1 HG00733.hp1 HG00735.hp2 others(62): Show |
intron_variant | MODIFIER | c.3350+634delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733529 | ||||||
| chr12:119733529
|
CAA | C | 14 | a0002c0004t0007g0033a0002c0004t0007g0050a0002c0004t0007g0052others(11): Show | 14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.3350+633_3350+634d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733529 | ||||||
| chr12:119733543
|
AC | A | 4 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(1): Show | 4 | HG02257.hp1 HG02970.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.3350+620delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733543 | ||||||
| chr12:119733544
|
C | A | 2 | a0001c0007t0005g0219a0001c0007t0005g0220 | 2 | HG01109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.3350+620G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733544 | ||||||
| chr12:119733553
|
C | A | 31 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(28): Show | 31 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(28): Show |
intron_variant | MODIFIER | c.3350+611G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733553 | ||||||
| chr12:119733693
|
C | G | 2 | a0001c0013t0005g0029a0001c0030t0005g0032 | 2 | HG02895.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.3350+471G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733693 | ||||||
| chr12:119733714
|
A | G | 3 | a0001c0009t0009g0036a0001c0009t0009g0039a0001c0009t0009g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.3350+450T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733714 | ||||||
| chr12:119733977
|
G | A | 1 | a0001c0013t0003g0025 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.3350+187C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733977 | ||||||
| chr12:119734075
|
C | T | 3 | a0001c0001t0002g0095a0001c0006t0001g0132a0001c0006t0001g0136 | 3 | NA18971.hp1 NA18982.hp2 NA18997.hp1 |
intron_variant | MODIFIER | c.3350+89G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119734075 | ||||||
| chr12:119734124
|
G | A | 16 | a0001c0028t0003g0229a0002c0004t0003g0044a0002c0004t0007g0033others(13): Show | 16 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.3350+40C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119734124 | ||||||
| chr12:119734124
|
G | T | 1 | a0001c0001t0001g0179 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3350+40C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119734124 | ||||||
| chr12:119734368
|
G | A | 30 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(27): Show | 30 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(27): Show |
intron_variant | MODIFIER | c.3157-11C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 25/47 | chr12 | 119734368 | ||||||
| chr12:119734697
|
C | T | 2 | a0001c0001t0003g0111a0001c0030t0005g0032 | 2 | HG02258.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.3157-340G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 25/47 | chr12 | 119734697 | ||||||
| chr12:119734722
|
G | A | 108 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(105): Show | 108 | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(105): Show |
intron_variant | MODIFIER | c.3157-365C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 25/47 | chr12 | 119734722 | ||||||
| chr12:119734776
|
A | G | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3156+384T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 25/47 | chr12 | 119734776 | ||||||
| chr12:119734989
|
T | C | 1 | a0001c0003t0003g0184 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3156+171A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 25/47 | chr12 | 119734989 | ||||||
| chr12:119735091
|
G | A | 15 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(12): Show | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.3156+69C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 25/47 | chr12 | 119735091 | ||||||
| chr12:119735101
|
C | A | 15 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(12): Show | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.3156+59G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 25/47 | chr12 | 119735101 | ||||||
| chr12:119735673
|
T | C | 1 | a0001c0008t0001g0212 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.2959-316A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119735673 | ||||||
| chr12:119735718
|
T | C | 1 | a0001c0002t0001g0058 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2959-361A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119735718 | ||||||
| chr12:119735779
|
C | T | 1 | a0001c0001t0023g0214 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.2959-422G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119735779 | ||||||
| chr12:119735907
|
GAAACTCA others(12): Show |
G | 1 | a0001c0003t0003g0080 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2959-569_2959-551d others(21): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119735907 | ||||||
| chr12:119735972
|
A | G | 4 | a0002c0004t0007g0033a0002c0004t0007g0053a0002c0004t0007g0055others(1): Show | 4 | HG02280.hp2 HG02886.hp2 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.2959-615T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119735972 | ||||||
| chr12:119736058
|
C | T | 1 | a0001c0002t0020g0069 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.2959-701G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736058 | ||||||
| chr12:119736123
|
A | G | 1 | a0001c0001t0026g0233 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.2959-766T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736123 | ||||||
| chr12:119736214
|
C | A | 1 | a0002c0016t0001g0061 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2959-857G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736214 | ||||||
| chr12:119736243
|
AAAG | A | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2959-889_2959-887d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736243 | ||||||
| chr12:119736246
|
G | A | 6 | a0001c0003t0003g0183a0001c0003t0003g0192a0001c0003t0003g0208others(3): Show | 6 | HG01243.hp1 HG02451.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.2959-889C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736246 | ||||||
| chr12:119736268
|
C | T | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2959-911G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736268 | ||||||
| chr12:119736269
|
G | A | 1 | a0001c0001t0001g0047 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.2959-912C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736269 | ||||||
| chr12:119736580
|
A | G | 35 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(32): Show | 35 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.2959-1223T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736580 | ||||||
| chr12:119736787
|
G | C | 185 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(182): Show | 185 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(182): Show |
intron_variant | MODIFIER | c.2959-1430C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736787 | ||||||
| chr12:119736795
|
A | G | 17 | a0001c0001t0001g0008a0001c0001t0001g0100a0001c0001t0002g0095others(14): Show | 17 | HG00597.hp1 HG00733.hp1 HG01934.hp2 others(14): Show |
intron_variant | MODIFIER | c.2959-1438T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736795 | ||||||
| chr12:119736814
|
G | A | 5 | a0001c0006t0012g0115a0001c0006t0012g0129a0001c0006t0012g0142others(2): Show | 5 | NA18969.hp1 NA18973.hp1 NA18991.hp2 others(2): Show |
intron_variant | MODIFIER | c.2959-1457C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736814 | ||||||
| chr12:119737114
|
C | T | 1 | a0001c0001t0003g0106 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.2959-1757G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737114 | ||||||
| chr12:119737259
|
A | G | 2 | a0001c0006t0027g0234a0010c0032t0001g0028 | 2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2959-1902T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737259 | ||||||
| chr12:119737306
|
C | CA | 10 | a0001c0002t0001g0070a0001c0002t0002g0075a0001c0002t0002g0076others(7): Show | 10 | HG00738.hp1 HG01106.hp2 HG02080.hp2 others(7): Show |
intron_variant | MODIFIER | c.2959-1950dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | ||||||
| chr12:119737306
|
CA | C | 15 | a0001c0002t0001g0058a0001c0002t0002g0045a0001c0002t0002g0046others(12): Show | 15 | HG00741.hp1 HG02071.hp1 HG02165.hp1 others(12): Show |
intron_variant | MODIFIER | c.2959-1950delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | ||||||
| chr12:119737306
|
CAA | C | 7 | a0001c0001t0001g0017a0001c0001t0001g0179a0001c0003t0003g0086others(4): Show | 7 | HG00735.hp2 HG02258.hp1 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2959-1951_2959-195 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | ||||||
| chr12:119737306
|
CAAA | C | 30 | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0018others(27): Show | 30 | HG01081.hp2 HG01109.hp1 HG01243.hp1 others(27): Show |
intron_variant | MODIFIER | c.2959-1952_2959-195 others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | ||||||
| chr12:119737306
|
CAAAA | C | 69 | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0019others(66): Show | 69 | HG00597.hp2 HG00733.hp2 HG00735.hp1 others(66): Show |
intron_variant | MODIFIER | c.2959-1953_2959-195 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | ||||||
| chr12:119737306
|
CAAAAA | C | 43 | a0001c0001t0001g0001a0001c0001t0001g0034a0001c0001t0001g0047others(40): Show | 43 | HG00280.hp2 HG00408.hp2 HG00741.hp2 others(40): Show |
intron_variant | MODIFIER | c.2959-1954_2959-195 others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | ||||||
| chr12:119737306
|
CAAAAAA | C | 7 | a0001c0001t0001g0158a0001c0001t0001g0224a0001c0001t0002g0141others(4): Show | 7 | HG01168.hp1 HG01168.hp2 HG01169.hp2 others(4): Show |
intron_variant | MODIFIER | c.2959-1955_2959-195 others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | ||||||
| chr12:119737306
|
CAAAAAAA | C | 6 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221others(3): Show | 6 | HG02717.hp1 HG02886.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.2959-1956_2959-195 others(11): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | ||||||
| chr12:119737306
|
CAAAAAAA others(5): Show |
C | 2 | a0001c0001t0001g0181a0001c0002t0002g0102 | 2 | HG01515.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.2959-1961_2959-195 others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | ||||||
| chr12:119737306
|
CAAAAAAA others(6): Show |
C | 2 | a0001c0003t0003g0024a0001c0003t0003g0026 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2959-1962_2959-195 others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | ||||||
| chr12:119737306
|
CAAAAAAA others(9): Show |
C | 1 | a0001c0014t0001g0154 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.2959-1965_2959-195 others(20): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | ||||||
| chr12:119737306
|
CAAAAAAA others(16): Show |
C | 17 | a0001c0001t0001g0008a0001c0001t0001g0100a0001c0001t0002g0095others(14): Show | 17 | HG00597.hp1 HG00733.hp1 HG01934.hp2 others(14): Show |
intron_variant | MODIFIER | c.2959-1972_2959-195 others(27): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | ||||||
| chr12:119737337
|
A | G | 1 | a0001c0013t0003g0025 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2959-1980T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737337 | ||||||
| chr12:119737425
|
T | G | 2 | a0001c0001t0004g0146a0001c0001t0004g0194 | 2 | HG01928.hp1 HG01934.hp1 |
intron_variant | MODIFIER | c.2959-2068A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737425 | ||||||
| chr12:119737525
|
G | T | 185 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(182): Show | 185 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(182): Show |
intron_variant | MODIFIER | c.2959-2168C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737525 | ||||||
| chr12:119737924
|
T | C | 30 | a0001c0003t0003g0031a0001c0003t0003g0037a0001c0003t0003g0040others(27): Show | 30 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(27): Show |
intron_variant | MODIFIER | c.2959-2567A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737924 | ||||||
| chr12:119737946
|
T | C | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2959-2589A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737946 | ||||||
| chr12:119737986
|
C | T | 97 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(94): Show | 97 | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(94): Show |
intron_variant | MODIFIER | c.2959-2629G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737986 | ||||||
| chr12:119737998
|
A | C | 1 | a0001c0007t0005g0218 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2959-2641T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737998 | ||||||
| chr12:119738080
|
T | C | 97 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(94): Show | 97 | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(94): Show |
intron_variant | MODIFIER | c.2959-2723A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738080 | ||||||
| chr12:119738089
|
C | G | 35 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(32): Show | 35 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.2959-2732G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738089 | ||||||
| chr12:119738515
|
G | A | 1 | a0001c0003t0003g0086 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2959-3158C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738515 | ||||||
| chr12:119738586
|
T | TAA | 33 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(30): Show | 33 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.2959-3231_2959-323 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738586 | ||||||
| chr12:119738624
|
C | T | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2959-3267G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738624 | ||||||
| chr12:119738742
|
G | A | 1 | a0001c0013t0003g0025 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2959-3385C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738742 | ||||||
| chr12:119738886
|
GA | G | 166 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(163): Show | 166 | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(163): Show |
intron_variant | MODIFIER | c.2958+3524delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738886 | ||||||
| chr12:119738887
|
A | G | 17 | a0001c0001t0001g0008a0001c0001t0001g0100a0001c0001t0002g0095others(14): Show | 17 | HG00597.hp1 HG00733.hp1 HG01934.hp2 others(14): Show |
intron_variant | MODIFIER | c.2958+3524T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738887 | ||||||
| chr12:119738935
|
C | A | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2958+3476G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738935 | ||||||
| chr12:119738936
|
A | T | 2 | a0001c0006t0027g0234a0010c0032t0001g0028 | 2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2958+3475T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738936 | ||||||
| chr12:119738937
|
G | A | 39 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(36): Show | 39 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(36): Show |
intron_variant | MODIFIER | c.2958+3474C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738937 | ||||||
| chr12:119739088
|
T | C | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2958+3323A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119739088 | ||||||
| chr12:119739098
|
G | A | 3 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212 | 3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2958+3313C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119739098 | ||||||
| chr12:119739349
|
T | C | 3 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212 | 3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2958+3062A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119739349 | ||||||
| chr12:119739368
|
A | G | 4 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212others(1): Show | 4 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.2958+3043T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119739368 | ||||||
| chr12:119739534
|
AACTTGCA others(12): Show |
A | 2 | a0001c0001t0001g0143a0001c0001t0004g0166 | 2 | NA18983.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.2958+2858_2958+287 others(23): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119739534 | ||||||
| chr12:119740076
|
T | A | 1 | a0010c0032t0001g0028 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2958+2335A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740076 | ||||||
| chr12:119740167
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2958+2244C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740167 | ||||||
| chr12:119740247
|
C | T | 1 | a0001c0002t0013g0048 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2958+2164G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740247 | ||||||
| chr12:119740321
|
G | A | 1 | a0001c0001t0002g0127 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.2958+2090C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740321 | ||||||
| chr12:119740458
|
T | C | 1 | a0001c0006t0012g0129 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.2958+1953A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740458 | ||||||
| chr12:119740476
|
G | A | 1 | a0001c0001t0015g0094 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.2958+1935C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740476 | ||||||
| chr12:119740480
|
C | T | 41 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(38): Show | 41 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(38): Show |
intron_variant | MODIFIER | c.2958+1931G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740480 | ||||||
| chr12:119740487
|
A | G | 4 | a0001c0001t0001g0130a0001c0001t0001g0179a0001c0001t0001g0202others(1): Show | 4 | HG00735.hp1 HG03017.hp2 NA18984.hp1 others(1): Show |
intron_variant | MODIFIER | c.2958+1924T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740487 | ||||||
| chr12:119740547
|
G | GT | 34 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(31): Show | 34 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(31): Show |
intron_variant | MODIFIER | c.2958+1863dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740547 | ||||||
| chr12:119740547
|
G | T | 1 | a0001c0003t0003g0184 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2958+1864C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740547 | ||||||
| chr12:119740603
|
G | A | 1 | a0002c0004t0011g0162 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2958+1808C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740603 | ||||||
| chr12:119740608
|
G | C | 1 | a0001c0001t0001g0225 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2958+1803C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740608 | ||||||
| chr12:119740654
|
A | C | 13 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(10): Show | 13 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.2958+1757T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740654 | ||||||
| chr12:119740668
|
A | G | 2 | a0001c0006t0027g0234a0010c0032t0001g0028 | 2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2958+1743T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740668 | ||||||
| chr12:119740688
|
T | C | 1 | a0001c0030t0005g0032 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2958+1723A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740688 | ||||||
| chr12:119740771
|
G | A | 15 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(12): Show | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2958+1640C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740771 | ||||||
| chr12:119740986
|
T | C | 11 | a0002c0004t0007g0033a0002c0004t0007g0050a0002c0004t0007g0052others(8): Show | 11 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.2958+1425A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740986 | ||||||
| chr12:119741032
|
C | G | 1 | a0002c0004t0007g0052 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2958+1379G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741032 | ||||||
| chr12:119741153
|
A | AT | 2 | a0001c0002t0014g0235a0001c0002t0014g0236 | 2 | HG02976.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.2958+1257dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741153 | ||||||
| chr12:119741154
|
T | TA | 10 | a0001c0001t0001g0226a0001c0001t0005g0020a0001c0001t0026g0233others(7): Show | 10 | HG02056.hp2 HG02717.hp2 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.2958+1256dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741154 | ||||||
| chr12:119741154
|
TA | T | 51 | a0001c0001t0001g0008a0001c0001t0002g0095a0001c0003t0003g0024others(48): Show | 51 | HG00733.hp1 HG00735.hp2 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.2958+1256delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741154 | ||||||
| chr12:119741274
|
G | C | 1 | a0001c0001t0001g0195 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2958+1137C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741274 | ||||||
| chr12:119741325
|
T | G | 2 | a0001c0015t0006g0004a0001c0015t0006g0023 | 2 | HG01243.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2958+1086A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741325 | ||||||
| chr12:119741499
|
C | T | 2 | a0001c0003t0003g0031a0001c0003t0003g0185 | 2 | HG01069.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.2958+912G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741499 | ||||||
| chr12:119741604
|
T | C | 179 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(176): Show | 179 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(176): Show |
intron_variant | MODIFIER | c.2958+807A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741604 | ||||||
| chr12:119741785
|
C | G | 39 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(36): Show | 39 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(36): Show |
intron_variant | MODIFIER | c.2958+626G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741785 | ||||||
| chr12:119741994
|
G | A | 1 | a0001c0001t0001g0230 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2958+417C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741994 | ||||||
| chr12:119742081
|
T | C | 1 | a0001c0029t0003g0187 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2958+330A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119742081 | ||||||
| chr12:119742124
|
G | A | 1 | a0001c0002t0002g0072 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.2958+287C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119742124 | ||||||
| chr12:119742536
|
T | C | 1 | a0001c0001t0004g0168 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.2905-72A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742536 | ||||||
| chr12:119742555
|
T | C | 5 | a0001c0006t0012g0115a0001c0006t0012g0129a0001c0006t0012g0142others(2): Show | 5 | NA18969.hp1 NA18973.hp1 NA18991.hp2 others(2): Show |
intron_variant | MODIFIER | c.2905-91A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742555 | ||||||
| chr12:119742556
|
G | A | 1 | a0002c0004t0007g0055 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2905-92C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742556 | ||||||
| chr12:119742645
|
C | T | 5 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212others(2): Show | 5 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.2905-181G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742645 | ||||||
| chr12:119742790
|
T | C | 7 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212others(4): Show | 7 | HG02109.hp2 HG02280.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.2905-326A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742790 | ||||||
| chr12:119742866
|
G | GAC | 98 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(95): Show | 98 | HG00408.hp2 HG00597.hp2 HG00733.hp2 others(95): Show |
intron_variant | MODIFIER | c.2905-404_2905-403d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742866 | ||||||
| chr12:119742866
|
G | GACAC | 22 | a0001c0001t0001g0008a0001c0001t0001g0100a0001c0001t0001g0108others(19): Show | 22 | HG00597.hp1 HG00733.hp1 HG01934.hp2 others(19): Show |
intron_variant | MODIFIER | c.2905-406_2905-403d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742866 | ||||||
| chr12:119742866
|
GAC | G | 13 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(10): Show | 13 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.2905-404_2905-403d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742866 | ||||||
| chr12:119742866
|
GACACACA others(1): Show |
G | 39 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(36): Show | 39 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(36): Show |
intron_variant | MODIFIER | c.2905-410_2905-403d others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742866 | ||||||
| chr12:119742914
|
C | T | 3 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0228 | 3 | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.2905-450G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742914 | ||||||
| chr12:119743179
|
G | A | 1 | a0001c0002t0001g0058 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2905-715C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119743179 | ||||||
| chr12:119743587
|
G | T | 39 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(36): Show | 39 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(36): Show |
intron_variant | MODIFIER | c.2905-1123C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119743587 | ||||||
| chr12:119743590
|
T | C | 1 | a0001c0026t0002g0155 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.2905-1126A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119743590 | ||||||
| chr12:119743734
|
A | C | 1 | a0001c0001t0001g0147 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.2905-1270T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119743734 | ||||||
| chr12:119743989
|
T | C | 1 | a0001c0001t0001g0201 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2905-1525A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119743989 | ||||||
| chr12:119744004
|
C | T | 15 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(12): Show | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2905-1540G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744004 | ||||||
| chr12:119744079
|
G | A | 5 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212others(2): Show | 5 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.2905-1615C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744079 | ||||||
| chr12:119744103
|
C | T | 179 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(176): Show | 179 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(176): Show |
intron_variant | MODIFIER | c.2905-1639G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744103 | ||||||
| chr12:119744161
|
C | T | 1 | a0001c0001t0005g0020 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2905-1697G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744161 | ||||||
| chr12:119744276
|
C | T | 185 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(182): Show | 185 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(182): Show |
intron_variant | MODIFIER | c.2905-1812G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744276 | ||||||
| chr12:119744393
|
T | C | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2905-1929A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744393 | ||||||
| chr12:119744403
|
TA | T | 20 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(17): Show | 20 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.2905-1940delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744403 | ||||||
| chr12:119744416
|
A | T | 4 | a0001c0001t0006g0116a0001c0001t0006g0119a0001c0001t0006g0125others(1): Show | 4 | HG00733.hp2 HG01167.hp1 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.2905-1952T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744416 | ||||||
| chr12:119744639
|
C | T | 1 | a0001c0001t0001g0018 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2905-2175G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744639 | ||||||
| chr12:119744640
|
G | A | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2905-2176C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744640 | ||||||
| chr12:119744690
|
G | A | 5 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212others(2): Show | 5 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.2905-2226C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744690 | ||||||
| chr12:119744714
|
C | CA | 128 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(125): Show | 128 | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(125): Show |
intron_variant | MODIFIER | c.2905-2251dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744714 | ||||||
| chr12:119744714
|
C | CAA | 32 | a0001c0001t0001g0100a0001c0001t0001g0133a0001c0001t0002g0095others(29): Show | 32 | HG00597.hp1 HG00735.hp2 HG01243.hp1 others(29): Show |
intron_variant | MODIFIER | c.2905-2252_2905-225 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744714 | ||||||
| chr12:119744714
|
CA | C | 15 | a0001c0011t0009g0098a0001c0030t0005g0032a0001c0034t0001g0063others(12): Show | 15 | HG00408.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.2905-2251delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744714 | ||||||
| chr12:119744865
|
G | A | 3 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221 | 3 | HG02886.hp1 HG03098.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2905-2401C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744865 | ||||||
| chr12:119745059
|
G | A | 1 | a0001c0001t0001g0034 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2905-2595C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745059 | ||||||
| chr12:119745208
|
T | TA | 10 | a0001c0001t0001g0200a0001c0001t0005g0020a0001c0005t0008g0021others(7): Show | 10 | HG02109.hp2 HG02280.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.2905-2745dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745208 | ||||||
| chr12:119745374
|
C | CA | 52 | a0001c0002t0001g0070a0001c0002t0001g0093a0001c0002t0002g0045others(49): Show | 52 | HG00280.hp1 HG00408.hp1 HG00738.hp1 others(49): Show |
intron_variant | MODIFIER | c.2905-2911dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745374
|
C | CAA | 16 | a0001c0001t0001g0195a0001c0002t0001g0058a0001c0002t0001g0087others(13): Show | 16 | HG01109.hp1 HG02027.hp2 HG02080.hp2 others(13): Show |
intron_variant | MODIFIER | c.2905-2912_2905-291 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745374
|
C | CAAAAA | 5 | a0001c0001t0005g0020a0001c0006t0027g0234a0001c0009t0009g0039others(2): Show | 5 | HG02630.hp1 HG03130.hp1 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.2905-2915_2905-291 others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745374
|
C | CAAAAAAA others(3): Show |
6 | a0001c0003t0003g0031a0001c0003t0003g0178a0001c0003t0003g0185others(3): Show | 6 | HG01069.hp1 HG01081.hp2 HG01257.hp2 others(3): Show |
intron_variant | MODIFIER | c.2905-2920_2905-291 others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745374
|
C | CAAAAAAA others(4): Show |
7 | a0001c0003t0003g0037a0001c0003t0003g0040a0001c0003t0003g0128others(4): Show | 7 | HG01258.hp2 HG02451.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.2905-2921_2905-291 others(15): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745374
|
C | CAAAAAAA others(5): Show |
15 | a0001c0001t0001g0018a0001c0001t0001g0114a0001c0001t0001g0121others(12): Show | 15 | HG01081.hp1 HG01109.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.2905-2922_2905-291 others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745374
|
C | CAAAAAAA others(6): Show |
36 | a0001c0001t0001g0034a0001c0001t0001g0047a0001c0001t0001g0108others(33): Show | 36 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(33): Show |
intron_variant | MODIFIER | c.2905-2923_2905-291 others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745374
|
C | CAAAAAAA others(7): Show |
30 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0017others(27): Show | 30 | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(27): Show |
intron_variant | MODIFIER | c.2905-2924_2905-291 others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745374
|
C | CAAAAAAA others(8): Show |
16 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(13): Show | 16 | HG00597.hp2 HG00735.hp1 HG01106.hp1 others(13): Show |
intron_variant | MODIFIER | c.2905-2925_2905-291 others(19): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745374
|
C | CAAAAAAA others(9): Show |
2 | a0001c0001t0001g0019a0001c0001t0001g0175 | 2 | HG01258.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2905-2926_2905-291 others(20): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745374
|
C | CAAAAAAA others(10): Show |
3 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212 | 3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2905-2927_2905-291 others(21): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745374
|
C | CAAAAAAA others(11): Show |
1 | a0001c0003t0003g0205 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2905-2928_2905-291 others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745374
|
C | CAAAAAAA others(12): Show |
2 | a0001c0001t0004g0204a0001c0005t0008g0182 | 2 | HG03195.hp2 NA19090.hp2 |
intron_variant | MODIFIER | c.2905-2929_2905-291 others(23): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745374
|
C | CAAAAAAA others(13): Show |
3 | a0001c0005t0008g0022a0001c0005t0008g0215a0001c0013t0005g0029 | 3 | HG02717.hp2 HG02723.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2905-2930_2905-291 others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745374
|
C | CAAAAAAA others(14): Show |
2 | a0001c0017t0003g0012a0001c0017t0003g0013 | 2 | HG02559.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2905-2931_2905-291 others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745374
|
C | CAAAAAAA others(16): Show |
4 | a0001c0005t0008g0021a0001c0005t0008g0085a0002c0016t0001g0014others(1): Show | 4 | HG02647.hp2 HG02818.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2905-2933_2905-291 others(27): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745374
|
CAAAAAAA | C | 6 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(3): Show | 6 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.2905-2917_2905-291 others(11): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | ||||||
| chr12:119745386
|
A | AAAAAAAA others(7): Show |
1 | a0001c0001t0001g0147 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.2905-2923_2905-292 others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745386 | ||||||
| chr12:119745386
|
A | AAAAAAAA others(6): Show |
1 | a0001c0001t0002g0141 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.2905-2935_2905-292 others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745386 | ||||||
| chr12:119745390
|
A | AAAAAAAA others(7): Show |
1 | a0001c0001t0002g0144 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.2905-2927_2905-292 others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745390 | ||||||
| chr12:119745390
|
A | AAAAAAAA others(6): Show |
1 | a0001c0001t0002g0120 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.2905-2927_2905-292 others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745390 | ||||||
| chr12:119745479
|
CA | C | 15 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(12): Show | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2905-3016delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745479 | ||||||
| chr12:119745484
|
G | T | 15 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(12): Show | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2905-3020C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745484 | ||||||
| chr12:119745670
|
C | T | 1 | a0001c0002t0002g0075 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2905-3206G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745670 | ||||||
| chr12:119745717
|
C | T | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2905-3253G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745717 | ||||||
| chr12:119745802
|
C | T | 185 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(182): Show | 185 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(182): Show |
intron_variant | MODIFIER | c.2905-3338G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745802 | ||||||
| chr12:119745826
|
C | CA | 179 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(176): Show | 179 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(176): Show |
intron_variant | MODIFIER | c.2905-3363dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745826 | ||||||
| chr12:119745942
|
T | C | 1 | a0001c0002t0002g0102 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2905-3478A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745942 | ||||||
| chr12:119746267
|
T | C | 4 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212others(1): Show | 4 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.2905-3803A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119746267 | ||||||
| chr12:119746329
|
T | A | 9 | a0001c0001t0002g0095a0001c0006t0001g0132a0001c0006t0001g0136others(6): Show | 9 | NA18969.hp1 NA18971.hp1 NA18973.hp1 others(6): Show |
intron_variant | MODIFIER | c.2905-3865A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119746329 | ||||||
| chr12:119746560
|
C | G | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2905-4096G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119746560 | ||||||
| chr12:119746575
|
A | G | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2905-4111T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119746575 | ||||||
| chr12:119746589
|
T | C | 15 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(12): Show | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2905-4125A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119746589 | ||||||
| chr12:119746873
|
TA | T | 3 | a0001c0002t0002g0045a0001c0002t0002g0046a0001c0002t0002g0066 | 3 | HG03490.hp2 HG03492.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.2905-4410delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119746873 | ||||||
| chr12:119746957
|
T | A | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2905-4493A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119746957 | ||||||
| chr12:119747040
|
GAATA | G | 164 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 164 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(161): Show |
intron_variant | MODIFIER | c.2905-4580_2905-457 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119747040 | ||||||
| chr12:119747149
|
A | G | 164 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 164 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(161): Show |
intron_variant | MODIFIER | c.2905-4685T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119747149 | ||||||
| chr12:119747150
|
C | A | 6 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(3): Show | 6 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.2905-4686G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119747150 | ||||||
| chr12:119747183
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2905-4719C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119747183 | ||||||
| chr12:119747376
|
G | A | 1 | a0002c0004t0011g0162 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2904+4674C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119747376 | ||||||
| chr12:119747696
|
G | C | 1 | a0001c0001t0008g0135 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2904+4354C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119747696 | ||||||
| chr12:119747971
|
C | T | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2904+4079G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119747971 | ||||||
| chr12:119748050
|
G | T | 1 | a0001c0001t0001g0049 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.2904+4000C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119748050 | ||||||
| chr12:119748329
|
C | T | 3 | a0001c0001t0001g0100a0001c0001t0001g0131a0001c0001t0001g0149 | 3 | HG00597.hp1 NA19065.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2904+3721G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119748329 | ||||||
| chr12:119748509
|
A | G | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2904+3541T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119748509 | ||||||
| chr12:119748527
|
A | G | 27 | a0001c0001t0001g0008a0001c0001t0002g0095a0001c0001t0005g0020others(24): Show | 27 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(24): Show |
intron_variant | MODIFIER | c.2904+3523T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119748527 | ||||||
| chr12:119748547
|
A | G | 181 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(178): Show | 181 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(178): Show |
intron_variant | MODIFIER | c.2904+3503T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119748547 | ||||||
| chr12:119748903
|
T | C | 127 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(124): Show | 127 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(124): Show |
intron_variant | MODIFIER | c.2904+3147A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119748903 | ||||||
| chr12:119749001
|
C | T | 2 | a0001c0001t0004g0169a0001c0001t0004g0170 | 2 | HG03017.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.2904+3049G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749001 | ||||||
| chr12:119749039
|
C | T | 187 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(184): Show | 187 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(184): Show |
intron_variant | MODIFIER | c.2904+3011G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749039 | ||||||
| chr12:119749061
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2904+2989C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749061 | ||||||
| chr12:119749126
|
C | T | 54 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(51): Show | 54 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(51): Show |
intron_variant | MODIFIER | c.2904+2924G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749126 | ||||||
| chr12:119749129
|
G | A | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2904+2921C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749129 | ||||||
| chr12:119749131
|
G | A | 33 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(30): Show | 33 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.2904+2919C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749131 | ||||||
| chr12:119749309
|
G | T | 1 | a0001c0002t0002g0090 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2904+2741C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749309 | ||||||
| chr12:119749357
|
T | C | 3 | a0001c0003t0003g0208a0001c0003t0003g0213a0001c0003t0017g0060 | 3 | HG01243.hp1 HG02451.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2904+2693A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749357 | ||||||
| chr12:119749417
|
C | T | 27 | a0001c0001t0001g0008a0001c0001t0002g0095a0001c0001t0005g0020others(24): Show | 27 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(24): Show |
intron_variant | MODIFIER | c.2904+2633G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749417 | ||||||
| chr12:119749436
|
C | T | 6 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(3): Show | 6 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.2904+2614G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749436 | ||||||
| chr12:119749568
|
G | A | 162 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(159): Show | 162 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(159): Show |
intron_variant | MODIFIER | c.2904+2482C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749568 | ||||||
| chr12:119749672
|
T | G | 1 | a0001c0011t0009g0191 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.2904+2378A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749672 | ||||||
| chr12:119749679
|
A | G | 187 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(184): Show | 187 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(184): Show |
intron_variant | MODIFIER | c.2904+2371T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749679 | ||||||
| chr12:119749914
|
T | C | 1 | a0001c0001t0001g0180 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2904+2136A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749914 | ||||||
| chr12:119750000
|
G | A | 2 | a0001c0001t0001g0015a0001c0001t0001g0016 | 2 | HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.2904+2050C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750000 | ||||||
| chr12:119750064
|
G | A | 166 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(163): Show | 166 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(163): Show |
intron_variant | MODIFIER | c.2904+1986C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750064 | ||||||
| chr12:119750241
|
T | C | 1 | a0001c0002t0002g0090 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2904+1809A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750241 | ||||||
| chr12:119750643
|
T | G | 162 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(159): Show | 162 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(159): Show |
intron_variant | MODIFIER | c.2904+1407A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750643 | ||||||
| chr12:119750731
|
C | T | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2904+1319G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750731 | ||||||
| chr12:119750748
|
T | TATAG | 19 | a0001c0001t0001g0047a0001c0001t0001g0172a0001c0001t0001g0174others(16): Show | 19 | HG00280.hp2 HG02015.hp2 HG02056.hp2 others(16): Show |
intron_variant | MODIFIER | c.2904+1298_2904+130 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750748 | ||||||
| chr12:119750748
|
T | TATAGATA others(1): Show |
4 | a0001c0001t0001g0109a0001c0001t0001g0114a0001c0001t0004g0168others(1): Show | 4 | HG02071.hp2 HG03688.hp1 NA18969.hp2 others(1): Show |
intron_variant | MODIFIER | c.2904+1294_2904+130 others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750748 | ||||||
| chr12:119750748
|
T | TATAGATA others(5): Show |
1 | a0001c0002t0002g0092 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.2904+1290_2904+130 others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750748 | ||||||
| chr12:119750748
|
TATAG | T | 62 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0018others(59): Show | 62 | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(59): Show |
intron_variant | MODIFIER | c.2904+1298_2904+130 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750748 | ||||||
| chr12:119750748
|
TATAGATA others(1): Show |
T | 8 | a0001c0001t0001g0009a0001c0001t0001g0019a0001c0001t0001g0199others(5): Show | 8 | HG01928.hp2 HG03195.hp1 HG03710.hp1 others(5): Show |
intron_variant | MODIFIER | c.2904+1294_2904+130 others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750748 | ||||||
| chr12:119750748
|
TATAGATA others(5): Show |
T | 8 | a0001c0001t0001g0122a0001c0001t0001g0195a0001c0001t0006g0116others(5): Show | 8 | HG01069.hp1 HG01081.hp2 HG01257.hp1 others(5): Show |
intron_variant | MODIFIER | c.2904+1290_2904+130 others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750748 | ||||||
| chr12:119750748
|
TATAGATA others(9): Show |
T | 32 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0037others(29): Show | 32 | HG00735.hp2 HG01109.hp2 HG01168.hp1 others(29): Show |
intron_variant | MODIFIER | c.2904+1286_2904+130 others(20): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750748 | ||||||
| chr12:119750748
|
TATAGATA others(13): Show |
T | 1 | a0001c0003t0003g0192 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2904+1282_2904+130 others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750748 | ||||||
| chr12:119750750
|
T | TAGAC | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2904+1299_2904+130 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750750 | ||||||
| chr12:119750798
|
G | T | 1 | a0002c0016t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2904+1252C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750798 | ||||||
| chr12:119750814
|
C | T | 2 | a0001c0001t0001g0047a0001c0001t0001g0181 | 2 | HG00280.hp2 HG01515.hp2 |
intron_variant | MODIFIER | c.2904+1236G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750814 | ||||||
| chr12:119751380
|
CA | C | 187 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(184): Show | 187 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(184): Show |
intron_variant | MODIFIER | c.2904+669delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119751380 | ||||||
| chr12:119751619
|
A | AAAG | 146 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(143): Show | 146 | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(143): Show |
intron_variant | MODIFIER | c.2904+428_2904+430d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119751619 | ||||||
| chr12:119751692
|
ATTATT | A | 3 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221 | 3 | HG02886.hp1 HG03098.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2904+353_2904+357d others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119751692 | ||||||
| chr12:119751727
|
A | G | 148 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(145): Show | 148 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(145): Show |
intron_variant | MODIFIER | c.2904+323T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119751727 | ||||||
| chr12:119751883
|
A | G | 127 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(124): Show | 127 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(124): Show |
intron_variant | MODIFIER | c.2904+167T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119751883 | ||||||
| chr12:119752249
|
T | TGA | 12 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0052others(9): Show | 12 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(9): Show |
splice_region_variant&intron_variant | LOW | c.2707-4_2707-3dupTC | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119752249 | ||||||
| chr12:119752249
|
T | TGAGA | 4 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212others(1): Show | 4 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
splice_region_variant&intron_variant | LOW | c.2707-6_2707-3dupTC others(2): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119752249 | ||||||
| chr12:119752249
|
T | TGAGAGA | 3 | a0002c0004t0007g0050a0004c0018t0006g0005a0004c0018t0006g0006 | 3 | HG02896.hp1 HG02897.hp1 HG02976.hp1 |
splice_region_variant&intron_variant | LOW | c.2707-3_2707-2insTC others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119752249 | ||||||
| chr12:119752254
|
C | G | 25 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(22): Show | 25 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(22): Show |
splice_region_variant&intron_variant | LOW | c.2707-7G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119752254 | ||||||
| chr12:119752565
|
C | T | 2 | a0001c0001t0001g0117a0001c0001t0001g0118 | 2 | HG00738.hp2 HG01069.hp2 |
intron_variant | MODIFIER | c.2707-318G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119752565 | ||||||
| chr12:119752687
|
T | C | 1 | a0001c0029t0003g0187 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2707-440A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119752687 | ||||||
| chr12:119752897
|
T | G | 168 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(165): Show | 168 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(165): Show |
intron_variant | MODIFIER | c.2707-650A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119752897 | ||||||
| chr12:119753116
|
GACAA | G | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2707-873_2707-870d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753116 | ||||||
| chr12:119753280
|
C | T | 1 | a0001c0002t0014g0236 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2707-1033G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753280 | ||||||
| chr12:119753289
|
G | A | 7 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(4): Show | 7 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.2707-1042C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753289 | ||||||
| chr12:119753518
|
C | T | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2707-1271G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753518 | ||||||
| chr12:119753736
|
C | CA | 38 | a0001c0001t0001g0008a0001c0001t0001g0223a0001c0001t0002g0095others(35): Show | 38 | HG00733.hp1 HG01109.hp1 HG01928.hp1 others(35): Show |
intron_variant | MODIFIER | c.2707-1490dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753736 | ||||||
| chr12:119753785
|
G | A | 5 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(2): Show | 5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.2707-1538C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753785 | ||||||
| chr12:119753789
|
G | A | 1 | a0001c0012t0002g0101 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.2707-1542C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753789 | ||||||
| chr12:119753839
|
G | A | 139 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(136): Show | 139 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(136): Show |
intron_variant | MODIFIER | c.2707-1592C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753839 | ||||||
| chr12:119753849
|
A | C | 6 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(3): Show | 6 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.2707-1602T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753849 | ||||||
| chr12:119754070
|
G | A | 139 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(136): Show | 139 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(136): Show |
intron_variant | MODIFIER | c.2707-1823C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119754070 | ||||||
| chr12:119754332
|
C | T | 3 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221 | 3 | HG02886.hp1 HG03098.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2707-2085G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119754332 | ||||||
| chr12:119754405
|
T | G | 187 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(184): Show | 187 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(184): Show |
intron_variant | MODIFIER | c.2707-2158A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119754405 | ||||||
| chr12:119754752
|
T | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2707-2505A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119754752 | ||||||
| chr12:119754811
|
C | T | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2706+2560G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119754811 | ||||||
| chr12:119754813
|
C | T | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2706+2558G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119754813 | ||||||
| chr12:119754973
|
T | TA | 4 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212others(1): Show | 4 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.2706+2397dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119754973 | ||||||
| chr12:119754989
|
G | A | 12 | a0002c0004t0007g0033a0002c0004t0007g0050a0002c0004t0007g0052others(9): Show | 12 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.2706+2382C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119754989 | ||||||
| chr12:119755114
|
C | T | 15 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(12): Show | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2706+2257G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755114 | ||||||
| chr12:119755382
|
C | G | 2 | a0001c0001t0001g0202a0001c0001t0004g0204 | 2 | NA18984.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.2706+1989G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755382 | ||||||
| chr12:119755656
|
G | A | 1 | a0001c0013t0005g0029 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2706+1715C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755656 | ||||||
| chr12:119755681
|
C | A | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2706+1690G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755681 | ||||||
| chr12:119755692
|
T | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2706+1679A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755692 | ||||||
| chr12:119755786
|
T | C | 139 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(136): Show | 139 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(136): Show |
intron_variant | MODIFIER | c.2706+1585A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755786 | ||||||
| chr12:119755859
|
A | T | 1 | a0001c0002t0002g0092 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.2706+1512T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755859 | ||||||
| chr12:119755869
|
A | G | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2706+1502T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755869 | ||||||
| chr12:119755893
|
C | A | 1 | a0002c0004t0011g0056 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2706+1478G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755893 | ||||||
| chr12:119756011
|
T | G | 6 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(3): Show | 6 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.2706+1360A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756011 | ||||||
| chr12:119756034
|
G | A | 2 | a0001c0001t0001g0202a0001c0001t0004g0204 | 2 | NA18984.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.2706+1337C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756034 | ||||||
| chr12:119756045
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2706+1326C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756045 | ||||||
| chr12:119756160
|
T | C | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2706+1211A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756160 | ||||||
| chr12:119756371
|
G | A | 1 | a0001c0001t0001g0130 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2706+1000C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756371 | ||||||
| chr12:119756453
|
G | A | 1 | a0001c0003t0003g0192 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2706+918C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756453 | ||||||
| chr12:119756465
|
T | G | 3 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0228 | 3 | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.2706+906A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756465 | ||||||
| chr12:119756517
|
T | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2706+854A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756517 | ||||||
| chr12:119756585
|
G | C | 13 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(10): Show | 13 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.2706+786C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756585 | ||||||
| chr12:119756612
|
T | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2706+759A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756612 | ||||||
| chr12:119756744
|
G | A | 1 | a0001c0030t0005g0032 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2706+627C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756744 | ||||||
| chr12:119756993
|
G | A | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2706+378C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756993 | ||||||
| chr12:119757012
|
C | T | 6 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(3): Show | 6 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.2706+359G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119757012 | ||||||
| chr12:119757013
|
G | A | 33 | a0001c0001t0001g0008a0001c0001t0002g0095a0001c0001t0005g0020others(30): Show | 33 | HG00733.hp1 HG01109.hp1 HG01934.hp2 others(30): Show |
intron_variant | MODIFIER | c.2706+358C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119757013 | ||||||
| chr12:119757117
|
T | TA | 36 | a0001c0001t0001g0008a0001c0001t0002g0095a0001c0001t0004g0160others(33): Show | 36 | HG00733.hp1 HG01109.hp1 HG01934.hp2 others(33): Show |
intron_variant | MODIFIER | c.2706+253dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119757117 | ||||||
| chr12:119757117
|
TA | T | 11 | a0001c0001t0001g0001a0001c0001t0001g0117a0001c0001t0001g0174others(8): Show | 11 | HG01069.hp2 HG02293.hp2 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.2706+253delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119757117 | ||||||
| chr12:119757278
|
C | G | 33 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(30): Show | 33 | HG01069.hp1 HG01081.hp2 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.2706+93G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119757278 | ||||||
| chr12:119757357
|
C | T | 1 | a0001c0002t0002g0066 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.2706+14G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119757357 | ||||||
| chr12:119757550
|
TG | T | 32 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0031others(29): Show | 32 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(29): Show |
splice_region_variant&intron_variant | LOW | c.2532-6delC | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 21/47 | chr12 | 119757550 | ||||||
| chr12:119757818
|
C | T | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2532-273G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 21/47 | chr12 | 119757818 | ||||||
| chr12:119757887
|
A | C | 185 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(182): Show | 185 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(182): Show |
intron_variant | MODIFIER | c.2532-342T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 21/47 | chr12 | 119757887 | ||||||
| chr12:119758231
|
A | G | 1 | a0001c0003t0017g0060 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2531+360T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 21/47 | chr12 | 119758231 | ||||||
| chr12:119758409
|
C | G | 95 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(92): Show | 95 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(92): Show |
intron_variant | MODIFIER | c.2531+182G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 21/47 | chr12 | 119758409 | ||||||
| chr12:119758420
|
G | C | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2531+171C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 21/47 | chr12 | 119758420 | ||||||
| chr12:119758491
|
CA | C | 95 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(92): Show | 95 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(92): Show |
intron_variant | MODIFIER | c.2531+99delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 21/47 | chr12 | 119758491 | ||||||
| chr12:119759050
|
C | T | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2422-350G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119759050 | ||||||
| chr12:119759237
|
A | T | 1 | a0001c0002t0004g0073 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.2422-537T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119759237 | ||||||
| chr12:119759355
|
G | A | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2422-655C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119759355 | ||||||
| chr12:119759428
|
C | G | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2422-728G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119759428 | ||||||
| chr12:119759895
|
C | G | 1 | a0001c0030t0005g0032 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2421+1044G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119759895 | ||||||
| chr12:119759901
|
G | A | 12 | a0002c0004t0007g0033a0002c0004t0007g0050a0002c0004t0007g0052others(9): Show | 12 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.2421+1038C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119759901 | ||||||
| chr12:119759912
|
C | T | 95 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(92): Show | 95 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(92): Show |
intron_variant | MODIFIER | c.2421+1027G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119759912 | ||||||
| chr12:119760023
|
C | T | 2 | a0001c0003t0005g0189a0001c0003t0005g0190 | 2 | HG01257.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.2421+916G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119760023 | ||||||
| chr12:119760069
|
T | C | 149 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(146): Show | 149 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(146): Show |
intron_variant | MODIFIER | c.2421+870A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119760069 | ||||||
| chr12:119760186
|
C | CA | 9 | a0001c0001t0002g0139a0001c0001t0004g0151a0001c0007t0005g0030others(6): Show | 9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.2421+752dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119760186 | ||||||
| chr12:119760204
|
AG | A | 12 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0003t0003g0184others(9): Show | 12 | HG01243.hp1 HG01243.hp2 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.2421+734delC | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119760204 | ||||||
| chr12:119760205
|
G | A | 42 | a0001c0001t0001g0195a0001c0003t0003g0031a0001c0003t0003g0080others(39): Show | 42 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.2421+734C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119760205 | ||||||
| chr12:119760381
|
C | T | 1 | a0009c0024t0002g0077 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.2421+558G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119760381 | ||||||
| chr12:119760626
|
CA | C | 36 | a0001c0001t0001g0195a0001c0001t0005g0020a0001c0003t0003g0024others(33): Show | 36 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(33): Show |
intron_variant | MODIFIER | c.2421+312delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119760626 | ||||||
| chr12:119761210
|
G | A | 15 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(12): Show | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2305-155C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119761210 | ||||||
| chr12:119761599
|
G | A | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2305-544C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119761599 | ||||||
| chr12:119761621
|
A | C | 15 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(12): Show | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2305-566T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119761621 | ||||||
| chr12:119761688
|
C | T | 1 | a0001c0010t0002g0113 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2305-633G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119761688 | ||||||
| chr12:119761857
|
C | T | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2305-802G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119761857 | ||||||
| chr12:119761954
|
A | G | 185 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(182): Show | 185 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(182): Show |
intron_variant | MODIFIER | c.2305-899T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119761954 | ||||||
| chr12:119762005
|
T | A | 15 | a0002c0004t0003g0044a0002c0004t0007g0033a0002c0004t0007g0050others(12): Show | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2305-950A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762005 | ||||||
| chr12:119762077
|
C | G | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2305-1022G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762077 | ||||||
| chr12:119762111
|
C | T | 1 | a0001c0013t0005g0029 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2305-1056G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762111 | ||||||
| chr12:119762144
|
C | T | 3 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212 | 3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2305-1089G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762144 | ||||||
| chr12:119762308
|
G | A | 147 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(144): Show | 147 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(144): Show |
intron_variant | MODIFIER | c.2305-1253C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762308 | ||||||
| chr12:119762313
|
A | T | 21 | a0001c0001t0001g0097a0001c0001t0001g0100a0001c0001t0001g0114others(18): Show | 21 | HG00408.hp2 HG00597.hp1 HG02056.hp2 others(18): Show |
intron_variant | MODIFIER | c.2305-1258T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762313 | ||||||
| chr12:119762364
|
T | G | 2 | a0001c0001t0001g0133a0001c0001t0001g0145 | 2 | NA19010.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.2305-1309A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762364 | ||||||
| chr12:119762706
|
G | T | 1 | a0001c0001t0001g0126 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2305-1651C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762706 | ||||||
| chr12:119762808
|
G | A | 30 | a0001c0001t0001g0008a0001c0001t0002g0095a0001c0001t0005g0020others(27): Show | 30 | HG00733.hp1 HG01934.hp2 HG02451.hp1 others(27): Show |
intron_variant | MODIFIER | c.2305-1753C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762808 | ||||||
| chr12:119762810
|
G | T | 1 | a0001c0003t0003g0040 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2305-1755C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762810 | ||||||
| chr12:119762828
|
C | T | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2305-1773G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762828 | ||||||
| chr12:119763129
|
A | G | 183 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(180): Show | 183 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(180): Show |
intron_variant | MODIFIER | c.2305-2074T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763129 | ||||||
| chr12:119763288
|
G | GTGCCAGG others(105): Show |
147 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(144): Show | 147 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(144): Show |
intron_variant | MODIFIER | c.2305-2234_2305-223 others(116): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763288 | ||||||
| chr12:119763289
|
T | TGCCAGGG others(105): Show |
38 | a0001c0001t0001g0008a0001c0001t0002g0095a0001c0001t0005g0020others(35): Show | 38 | HG00733.hp1 HG01109.hp1 HG01934.hp2 others(35): Show |
intron_variant | MODIFIER | c.2305-2235_2305-223 others(116): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763289 | ||||||
| chr12:119763381
|
G | A | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2305-2326C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763381 | ||||||
| chr12:119763573
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2305-2518C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763573 | ||||||
| chr12:119763738
|
C | T | 1 | a0001c0001t0001g0175 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.2305-2683G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763738 | ||||||
| chr12:119763749
|
A | C | 1 | a0001c0001t0015g0094 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.2305-2694T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763749 | ||||||
| chr12:119763867
|
CTAA | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2305-2815_2305-281 others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763867 | ||||||
| chr12:119763886
|
C | T | 1 | a0001c0001t0001g0226 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.2305-2831G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763886 | ||||||
| chr12:119764092
|
G | A | 1 | a0001c0011t0009g0191 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.2304+2995C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764092 | ||||||
| chr12:119764152
|
C | A | 4 | a0001c0001t0006g0116a0001c0001t0006g0119a0001c0001t0006g0125others(1): Show | 4 | HG00733.hp2 HG01167.hp1 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.2304+2935G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764152 | ||||||
| chr12:119764255
|
A | C | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.2304+2832T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764255 | ||||||
| chr12:119764274
|
G | A | 1 | a0001c0001t0001g0181 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.2304+2813C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764274 | ||||||
| chr12:119764436
|
C | T | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2304+2651G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764436 | ||||||
| chr12:119764607
|
C | CA | 7 | a0001c0001t0001g0230a0001c0008t0001g0210a0001c0008t0001g0211others(4): Show | 7 | HG02109.hp2 HG02280.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.2304+2479dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764607 | ||||||
| chr12:119764782
|
T | C | 5 | a0001c0003t0003g0037a0001c0003t0003g0040a0001c0009t0009g0036others(2): Show | 5 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.2304+2305A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764782 | ||||||
| chr12:119764821
|
T | C | 1 | a0001c0025t0003g0064 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.2304+2266A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764821 | ||||||
| chr12:119764941
|
G | A | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2304+2146C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764941 | ||||||
| chr12:119764985
|
T | C | 1 | a0001c0014t0001g0084 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.2304+2102A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764985 | ||||||
| chr12:119765098
|
G | A | 1 | a0001c0002t0002g0090 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2304+1989C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765098 | ||||||
| chr12:119765357
|
T | TATATATA others(26): Show |
1 | a0011c0036t0003g0207 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.2304+1697_2304+172 others(37): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765357 | ||||||
| chr12:119765359
|
T | TATATATA others(26): Show |
2 | a0001c0002t0014g0235a0001c0002t0014g0236 | 2 | HG02976.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.2304+1695_2304+172 others(37): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765359 | ||||||
| chr12:119765375
|
A | G | 38 | a0001c0001t0001g0008a0001c0001t0002g0095a0001c0001t0005g0020others(35): Show | 38 | HG00733.hp1 HG01109.hp1 HG01934.hp2 others(35): Show |
intron_variant | MODIFIER | c.2304+1712T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765375 | ||||||
| chr12:119765381
|
A | G | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2304+1706T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765381 | ||||||
| chr12:119765382
|
T | TATATATT others(19): Show |
1 | a0001c0001t0001g0018 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2304+1679_2304+170 others(30): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765382 | ||||||
| chr12:119765408
|
C | CAT | 3 | a0001c0003t0003g0193a0001c0003t0003g0197a0006c0021t0003g0003 | 3 | HG02922.hp2 HG02965.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.2304+1677_2304+167 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765408 | ||||||
| chr12:119765469
|
C | CT | 40 | a0001c0001t0001g0195a0001c0001t0001g0201a0001c0001t0002g0110others(37): Show | 40 | HG00408.hp2 HG00735.hp2 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.2304+1617dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765469 | ||||||
| chr12:119765469
|
C | CTT | 5 | a0001c0003t0003g0197a0001c0013t0005g0029a0001c0017t0003g0012others(2): Show | 5 | HG02559.hp1 HG02895.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.2304+1616_2304+161 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765469 | ||||||
| chr12:119765917
|
T | C | 131 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(128): Show | 131 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(128): Show |
intron_variant | MODIFIER | c.2304+1170A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765917 | ||||||
| chr12:119766068
|
C | T | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2304+1019G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766068 | ||||||
| chr12:119766069
|
G | A | 38 | a0001c0001t0001g0195a0001c0001t0026g0233a0001c0003t0003g0024others(35): Show | 38 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(35): Show |
intron_variant | MODIFIER | c.2304+1018C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766069 | ||||||
| chr12:119766114
|
A | C | 15 | a0001c0001t0001g0097a0001c0001t0001g0114a0001c0001t0001g0122others(12): Show | 15 | HG00408.hp2 HG02071.hp2 HG02083.hp1 others(12): Show |
intron_variant | MODIFIER | c.2304+973T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766114 | ||||||
| chr12:119766142
|
T | C | 3 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212 | 3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2304+945A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766142 | ||||||
| chr12:119766242
|
GA | G | 168 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(165): Show | 168 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(165): Show |
intron_variant | MODIFIER | c.2304+844delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766242 | ||||||
| chr12:119766507
|
A | T | 1 | a0001c0002t0002g0102 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2304+580T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766507 | ||||||
| chr12:119766574
|
G | A | 1 | a0001c0001t0001g0138 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.2304+513C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766574 | ||||||
| chr12:119766816
|
A | G | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2304+271T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766816 | ||||||
| chr12:119766876
|
T | A | 1 | a0009c0024t0002g0077 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.2304+211A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766876 | ||||||
| chr12:119766876
|
T | TA | 5 | a0001c0003t0003g0037a0001c0003t0003g0040a0001c0009t0009g0036others(2): Show | 5 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.2304+210dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766876 | ||||||
| chr12:119767291
|
T | G | 190 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(187): Show | 190 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(187): Show |
intron_variant | MODIFIER | c.2209-109A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767291 | ||||||
| chr12:119767429
|
G | A | 1 | a0001c0001t0001g0097 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.2209-247C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767429 | ||||||
| chr12:119767492
|
G | A | 2 | a0001c0001t0001g0202a0001c0001t0004g0204 | 2 | NA18984.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.2209-310C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767492 | ||||||
| chr12:119767550
|
T | A | 3 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212 | 3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2209-368A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767550 | ||||||
| chr12:119767723
|
A | G | 1 | a0007c0022t0002g0082 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.2209-541T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767723 | ||||||
| chr12:119767754
|
T | C | 1 | a0001c0006t0012g0142 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.2209-572A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767754 | ||||||
| chr12:119767789
|
A | G | 1 | a0007c0022t0002g0082 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.2209-607T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767789 | ||||||
| chr12:119767822
|
C | G | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2209-640G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767822 | ||||||
| chr12:119767912
|
CT | C | 5 | a0001c0003t0003g0185a0001c0006t0027g0234a0001c0008t0001g0210others(2): Show | 5 | HG01081.hp2 HG02109.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.2209-731delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767912 | ||||||
| chr12:119768235
|
C | T | 1 | a0001c0030t0005g0032 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2209-1053G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119768235 | ||||||
| chr12:119768236
|
T | A | 1 | a0001c0003t0003g0183 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2209-1054A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119768236 | ||||||
| chr12:119768236
|
T | G | 33 | a0001c0001t0001g0195a0001c0001t0026g0233a0001c0003t0003g0024others(30): Show | 33 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.2209-1054A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119768236 | ||||||
| chr12:119768454
|
AT | A | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2209-1273delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119768454 | ||||||
| chr12:119768736
|
C | T | 1 | a0001c0001t0001g0149 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.2209-1554G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119768736 | ||||||
| chr12:119768856
|
G | A | 3 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221 | 3 | HG02886.hp1 HG03098.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2209-1674C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119768856 | ||||||
| chr12:119768958
|
G | A | 3 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212 | 3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2209-1776C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119768958 | ||||||
| chr12:119769034
|
G | A | 1 | a0001c0030t0005g0032 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2208+1751C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769034 | ||||||
| chr12:119769075
|
CT | C | 151 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(148): Show | 151 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(148): Show |
intron_variant | MODIFIER | c.2208+1709delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769075 | ||||||
| chr12:119769140
|
G | A | 169 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(166): Show | 169 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(166): Show |
intron_variant | MODIFIER | c.2208+1645C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769140 | ||||||
| chr12:119769177
|
CT | C | 35 | a0001c0001t0001g0195a0001c0001t0026g0233a0001c0003t0003g0024others(32): Show | 35 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.2208+1607delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769177 | ||||||
| chr12:119769186
|
C | A | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2208+1599G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769186 | ||||||
| chr12:119769234
|
G | T | 1 | a0001c0001t0001g0200 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.2208+1551C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769234 | ||||||
| chr12:119769371
|
T | C | 98 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(95): Show | 98 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(95): Show |
intron_variant | MODIFIER | c.2208+1414A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769371 | ||||||
| chr12:119769576
|
G | A | 2 | a0001c0013t0005g0029a0001c0030t0005g0032 | 2 | HG02895.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.2208+1209C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769576 | ||||||
| chr12:119769607
|
T | C | 95 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(92): Show | 95 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(92): Show |
intron_variant | MODIFIER | c.2208+1178A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769607 | ||||||
| chr12:119769736
|
T | C | 3 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221 | 3 | HG02886.hp1 HG03098.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2208+1049A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769736 | ||||||
| chr12:119769874
|
A | C | 32 | a0001c0001t0001g0008a0001c0001t0002g0095a0001c0003t0003g0037others(29): Show | 32 | HG00733.hp1 HG01109.hp1 HG01934.hp2 others(29): Show |
intron_variant | MODIFIER | c.2208+911T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769874 | ||||||
| chr12:119769988
|
C | A | 3 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212 | 3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2208+797G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769988 | ||||||
| chr12:119770001
|
CT | C | 30 | a0001c0001t0001g0008a0001c0001t0002g0095a0001c0003t0003g0037others(27): Show | 30 | HG00733.hp1 HG01109.hp1 HG01934.hp2 others(27): Show |
intron_variant | MODIFIER | c.2208+783delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119770001 | ||||||
| chr12:119770529
|
TA | T | 183 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(180): Show | 183 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(180): Show |
intron_variant | MODIFIER | c.2208+255delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119770529 | ||||||
| chr12:119770976
|
G | A | 6 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2083-66C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119770976 | ||||||
| chr12:119771014
|
G | T | 1 | a0001c0005t0010g0217 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2083-104C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771014 | ||||||
| chr12:119771150
|
C | T | 1 | a0001c0009t0009g0036 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2083-240G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771150 | ||||||
| chr12:119771168
|
T | C | 2 | a0001c0001t0002g0105a0001c0001t0025g0107 | 2 | NA19000.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.2083-258A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771168 | ||||||
| chr12:119771207
|
T | C | 117 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(114): Show | 117 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(114): Show |
intron_variant | MODIFIER | c.2083-297A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771207 | ||||||
| chr12:119771471
|
G | A | 57 | a0001c0001t0001g0195a0001c0001t0005g0020a0001c0001t0026g0233others(54): Show | 57 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(54): Show |
intron_variant | MODIFIER | c.2083-561C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771471 | ||||||
| chr12:119771554
|
G | A | 4 | a0001c0001t0004g0160a0001c0001t0004g0168a0001c0001t0023g0214others(1): Show | 4 | NA18966.hp2 NA18969.hp2 NA18997.hp2 others(1): Show |
intron_variant | MODIFIER | c.2083-644C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771554 | ||||||
| chr12:119771599
|
C | A | 2 | a0001c0003t0003g0198a0001c0035t0003g0007 | 2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2083-689G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771599 | ||||||
| chr12:119771874
|
A | G | 125 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(122): Show | 125 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(122): Show |
intron_variant | MODIFIER | c.2082+896T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771874 | ||||||
| chr12:119771954
|
A | G | 141 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(138): Show | 141 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(138): Show |
intron_variant | MODIFIER | c.2082+816T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771954 | ||||||
| chr12:119772140
|
TCAACTAC others(8): Show |
T | 120 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(117): Show | 120 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(117): Show |
intron_variant | MODIFIER | c.2082+615_2082+629d others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772140 | ||||||
| chr12:119772208
|
G | A | 8 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(5): Show | 8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.2082+562C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772208 | ||||||
| chr12:119772374
|
C | T | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2082+396G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772374 | ||||||
| chr12:119772420
|
G | A | 1 | a0001c0001t0001g0206 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2082+350C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772420 | ||||||
| chr12:119772424
|
A | C | 1 | a0001c0002t0014g0236 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2082+346T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772424 | ||||||
| chr12:119772466
|
A | C | 126 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(123): Show | 126 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(123): Show |
intron_variant | MODIFIER | c.2082+304T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772466 | ||||||
| chr12:119772533
|
G | A | 126 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(123): Show | 126 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(123): Show |
intron_variant | MODIFIER | c.2082+237C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772533 | ||||||
| chr12:119772590
|
T | C | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2082+180A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772590 | ||||||
| chr12:119772718
|
C | A | 8 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(5): Show | 8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.2082+52G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772718 | ||||||
| chr12:119772732
|
G | A | 8 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0218others(5): Show | 8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.2082+38C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772732 | ||||||
| chr12:119773014
|
T | TA | 93 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(90): Show | 93 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(90): Show |
intron_variant | MODIFIER | c.1942-105dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773014 | ||||||
| chr12:119773014
|
TA | T | 16 | a0001c0002t0002g0075a0001c0002t0018g0068a0001c0005t0008g0022others(13): Show | 16 | HG01109.hp1 HG02109.hp2 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.1942-105delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773014 | ||||||
| chr12:119773102
|
A | G | 6 | a0001c0003t0003g0080a0001c0003t0003g0183a0001c0003t0003g0192others(3): Show | 6 | HG01243.hp1 HG02109.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.1942-192T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773102 | ||||||
| chr12:119773167
|
C | T | 3 | a0001c0003t0003g0037a0001c0003t0003g0040a0001c0009t0009g0039 | 3 | HG02451.hp1 HG03225.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1942-257G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773167 | ||||||
| chr12:119773248
|
G | A | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1942-338C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773248 | ||||||
| chr12:119773442
|
T | C | 1 | a0001c0034t0001g0063 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1942-532A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773442 | ||||||
| chr12:119773494
|
G | A | 108 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(105): Show | 108 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.1942-584C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773494 | ||||||
| chr12:119773502
|
A | G | 126 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(123): Show | 126 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(123): Show |
intron_variant | MODIFIER | c.1942-592T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773502 | ||||||
| chr12:119773723
|
C | T | 1 | a0001c0001t0001g0018 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1942-813G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773723 | ||||||
| chr12:119773788
|
T | C | 113 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(110): Show | 113 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(110): Show |
intron_variant | MODIFIER | c.1942-878A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773788 | ||||||
| chr12:119773840
|
G | A | 1 | a0001c0003t0005g0186 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1942-930C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773840 | ||||||
| chr12:119773926
|
G | A | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1942-1016C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773926 | ||||||
| chr12:119774286
|
G | GT | 8 | a0001c0001t0001g0121a0001c0001t0001g0140a0001c0003t0003g0086others(5): Show | 8 | HG00735.hp2 HG02293.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.1942-1377dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119774286 | ||||||
| chr12:119774558
|
A | ATG | 11 | a0001c0002t0002g0072a0001c0002t0002g0089a0001c0003t0003g0128others(8): Show | 11 | HG01109.hp2 HG01167.hp2 HG02523.hp1 others(8): Show |
intron_variant | MODIFIER | c.1941+1226_1941+122 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119774558 | ||||||
| chr12:119774558
|
ATG | A | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1941+1226_1941+122 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119774558 | ||||||
| chr12:119774558
|
ATGTG | A | 20 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(17): Show | 20 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(17): Show |
intron_variant | MODIFIER | c.1941+1224_1941+122 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119774558 | ||||||
| chr12:119774558
|
ATGTGTG | A | 4 | a0001c0001t0001g0149a0001c0001t0001g0158a0001c0017t0003g0012others(1): Show | 4 | HG02559.hp1 NA18906.hp2 NA19079.hp2 others(1): Show |
intron_variant | MODIFIER | c.1941+1222_1941+122 others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119774558 | ||||||
| chr12:119774558
|
ATGTGTGT others(1): Show |
A | 111 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(108): Show | 111 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(108): Show |
intron_variant | MODIFIER | c.1941+1220_1941+122 others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119774558 | ||||||
| chr12:119774834
|
T | C | 3 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0228 | 3 | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1941+952A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119774834 | ||||||
| chr12:119775023
|
A | G | 108 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(105): Show | 108 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.1941+763T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775023 | ||||||
| chr12:119775032
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1941+754C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775032 | ||||||
| chr12:119775070
|
C | T | 3 | a0001c0002t0001g0070a0001c0002t0002g0076a0001c0002t0002g0083 | 3 | NA18998.hp2 NA19012.hp2 NA19060.hp2 |
intron_variant | MODIFIER | c.1941+716G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775070 | ||||||
| chr12:119775180
|
A | G | 119 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(116): Show | 119 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(116): Show |
intron_variant | MODIFIER | c.1941+606T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775180 | ||||||
| chr12:119775254
|
C | G | 2 | a0001c0001t0001g0147a0001c0001t0002g0141 | 2 | NA18959.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.1941+532G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775254 | ||||||
| chr12:119775280
|
A | T | 3 | a0001c0017t0003g0012a0001c0017t0003g0013a0001c0030t0005g0032 | 3 | HG02559.hp1 HG02895.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1941+506T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775280 | ||||||
| chr12:119775281
|
A | T | 178 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(175): Show | 178 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(175): Show |
intron_variant | MODIFIER | c.1941+505T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775281 | ||||||
| chr12:119775289
|
T | A | 1 | a0001c0001t0001g0130 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1941+497A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775289 | ||||||
| chr12:119775343
|
A | C | 2 | a0001c0001t0001g0147a0001c0001t0002g0141 | 2 | NA18959.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.1941+443T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775343 | ||||||
| chr12:119775388
|
C | T | 1 | a0001c0001t0004g0163 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1941+398G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775388 | ||||||
| chr12:119775409
|
G | T | 4 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0013t0003g0025others(1): Show | 4 | HG01243.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1941+377C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775409 | ||||||
| chr12:119775593
|
C | T | 1 | a0001c0002t0020g0069 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.1941+193G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775593 | ||||||
| chr12:119776032
|
A | G | 112 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(109): Show | 112 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(109): Show |
intron_variant | MODIFIER | c.1888-193T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 15/47 | chr12 | 119776032 | ||||||
| chr12:119776878
|
G | A | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1666-36C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119776878 | ||||||
| chr12:119777131
|
T | C | 10 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(7): Show | 10 | HG02717.hp1 HG02886.hp1 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1666-289A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777131 | ||||||
| chr12:119777203
|
C | T | 112 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(109): Show | 112 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(109): Show |
intron_variant | MODIFIER | c.1666-361G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777203 | ||||||
| chr12:119777210
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1666-368C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777210 | ||||||
| chr12:119777265
|
A | G | 115 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(112): Show | 115 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(112): Show |
intron_variant | MODIFIER | c.1666-423T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777265 | ||||||
| chr12:119777271
|
C | G | 1 | a0001c0002t0002g0102 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1666-429G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777271 | ||||||
| chr12:119777331
|
G | A | 3 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0008g0135 | 3 | HG00738.hp2 HG01069.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.1666-489C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777331 | ||||||
| chr12:119777393
|
C | T | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1666-551G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777393 | ||||||
| chr12:119777530
|
T | C | 112 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(109): Show | 112 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(109): Show |
intron_variant | MODIFIER | c.1666-688A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777530 | ||||||
| chr12:119777539
|
G | A | 1 | a0001c0002t0004g0073 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.1666-697C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777539 | ||||||
| chr12:119777673
|
A | G | 6 | a0001c0006t0001g0148a0001c0006t0012g0115a0001c0006t0012g0129others(3): Show | 6 | NA18969.hp1 NA18973.hp1 NA18991.hp2 others(3): Show |
intron_variant | MODIFIER | c.1666-831T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777673 | ||||||
| chr12:119777677
|
C | CA | 103 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(100): Show | 103 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(100): Show |
intron_variant | MODIFIER | c.1666-836dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777677 | ||||||
| chr12:119777677
|
C | CAA | 6 | a0001c0006t0012g0115a0001c0006t0012g0129a0001c0006t0012g0142others(3): Show | 6 | HG06807.hp1 NA18969.hp1 NA18973.hp1 others(3): Show |
intron_variant | MODIFIER | c.1666-837_1666-836d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777677 | ||||||
| chr12:119777892
|
G | A | 3 | a0001c0001t0001g0010a0004c0018t0006g0005a0004c0018t0006g0006 | 3 | HG02257.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1666-1050C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777892 | ||||||
| chr12:119777966
|
T | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1666-1124A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777966 | ||||||
| chr12:119778060
|
G | A | 112 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(109): Show | 112 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(109): Show |
intron_variant | MODIFIER | c.1666-1218C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119778060 | ||||||
| chr12:119778553
|
C | T | 112 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(109): Show | 112 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(109): Show |
intron_variant | MODIFIER | c.1666-1711G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119778553 | ||||||
| chr12:119778650
|
C | A | 109 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(106): Show | 109 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(106): Show |
intron_variant | MODIFIER | c.1666-1808G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119778650 | ||||||
| chr12:119778653
|
A | C | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1666-1811T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119778653 | ||||||
| chr12:119778806
|
T | C | 109 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(106): Show | 109 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(106): Show |
intron_variant | MODIFIER | c.1666-1964A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119778806 | ||||||
| chr12:119778871
|
A | G | 1 | a0001c0003t0003g0128 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1666-2029T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119778871 | ||||||
| chr12:119779102
|
C | T | 3 | a0001c0001t0002g0188a0001c0003t0017g0060a0002c0016t0001g0061 | 3 | HG02451.hp2 HG02818.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1666-2260G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119779102 | ||||||
| chr12:119779283
|
C | T | 1 | a0001c0001t0001g0114 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.1666-2441G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119779283 | ||||||
| chr12:119779324
|
T | A | 1 | a0001c0001t0001g0049 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1666-2482A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119779324 | ||||||
| chr12:119779495
|
T | C | 1 | a0001c0002t0002g0092 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.1666-2653A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119779495 | ||||||
| chr12:119779638
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1666-2796C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119779638 | ||||||
| chr12:119779928
|
G | T | 19 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0002g0139others(16): Show | 19 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(16): Show |
intron_variant | MODIFIER | c.1665+2590C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119779928 | ||||||
| chr12:119779965
|
G | C | 2 | a0001c0001t0001g0047a0001c0001t0001g0181 | 2 | HG00280.hp2 HG01515.hp2 |
intron_variant | MODIFIER | c.1665+2553C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119779965 | ||||||
| chr12:119780035
|
C | T | 109 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(106): Show | 109 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(106): Show |
intron_variant | MODIFIER | c.1665+2483G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119780035 | ||||||
| chr12:119780149
|
T | C | 93 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(90): Show | 93 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(90): Show |
intron_variant | MODIFIER | c.1665+2369A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119780149 | ||||||
| chr12:119780304
|
G | A | 9 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221others(6): Show | 9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1665+2214C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119780304 | ||||||
| chr12:119780547
|
G | A | 1 | a0001c0002t0002g0092 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.1665+1971C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119780547 | ||||||
| chr12:119781260
|
G | A | 145 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(142): Show | 145 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(142): Show |
intron_variant | MODIFIER | c.1665+1258C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119781260 | ||||||
| chr12:119781503
|
T | C | 1 | a0001c0001t0002g0127 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1665+1015A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119781503 | ||||||
| chr12:119781669
|
G | GAA | 92 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(89): Show | 92 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.1665+847_1665+848d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119781669 | ||||||
| chr12:119781966
|
GC | G | 20 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(17): Show | 20 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(17): Show |
intron_variant | MODIFIER | c.1665+551delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119781966 | ||||||
| chr12:119782108
|
T | C | 20 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0001g0200others(17): Show | 20 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(17): Show |
intron_variant | MODIFIER | c.1665+410A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119782108 | ||||||
| chr12:119782137
|
T | C | 2 | a0002c0004t0011g0035a0002c0004t0011g0038 | 2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.1665+381A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119782137 | ||||||
| chr12:119782242
|
C | T | 126 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(123): Show | 126 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(123): Show |
intron_variant | MODIFIER | c.1665+276G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119782242 | ||||||
| chr12:119782478
|
A | G | 92 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(89): Show | 92 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.1665+40T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119782478 | ||||||
| chr12:119782785
|
C | T | 92 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(89): Show | 92 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.1546-148G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 12/47 | chr12 | 119782785 | ||||||
| chr12:119782817
|
C | T | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1546-180G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 12/47 | chr12 | 119782817 | ||||||
| chr12:119782847
|
A | AG | 89 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(86): Show | 89 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.1546-211dupC | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 12/47 | chr12 | 119782847 | ||||||
| chr12:119783648
|
G | A | 89 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(86): Show | 89 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.1545+260C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 12/47 | chr12 | 119783648 | ||||||
| chr12:119783682
|
C | T | 1 | a0001c0001t0004g0204 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.1545+226G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 12/47 | chr12 | 119783682 | ||||||
| chr12:119783711
|
G | A | 1 | a0001c0001t0001g0034 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1545+197C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 12/47 | chr12 | 119783711 | ||||||
| chr12:119783738
|
C | T | 9 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221others(6): Show | 9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1545+170G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 12/47 | chr12 | 119783738 | ||||||
| chr12:119783832
|
C | T | 79 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(76): Show | 79 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.1545+76G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 12/47 | chr12 | 119783832 | ||||||
| chr12:119784116
|
A | C | 1 | a0001c0001t0008g0135 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1402-65T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 11/47 | chr12 | 119784116 | ||||||
| chr12:119784127
|
G | A | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1402-76C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 11/47 | chr12 | 119784127 | ||||||
| chr12:119784245
|
T | A | 1 | a0001c0002t0014g0236 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1402-194A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 11/47 | chr12 | 119784245 | ||||||
| chr12:119784452
|
G | A | 3 | a0001c0001t0002g0188a0001c0003t0017g0060a0002c0016t0001g0061 | 3 | HG02451.hp2 HG02818.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1402-401C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 11/47 | chr12 | 119784452 | ||||||
| chr12:119784625
|
G | A | 1 | a0009c0024t0002g0077 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.1401+335C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 11/47 | chr12 | 119784625 | ||||||
| chr12:119784820
|
G | A | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1401+140C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 11/47 | chr12 | 119784820 | ||||||
| chr12:119785234
|
A | C | 1 | a0001c0001t0001g0121 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.1296-169T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785234 | ||||||
| chr12:119785477
|
A | C | 1 | a0001c0002t0002g0067 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1296-412T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785477 | ||||||
| chr12:119785518
|
T | G | 92 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(89): Show | 92 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.1296-453A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785518 | ||||||
| chr12:119785561
|
C | T | 1 | a0001c0015t0006g0004 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1296-496G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785561 | ||||||
| chr12:119785562
|
G | A | 1 | a0001c0001t0004g0194 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1296-497C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785562 | ||||||
| chr12:119785565
|
CT | C | 96 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(93): Show | 96 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(93): Show |
intron_variant | MODIFIER | c.1296-501delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785565 | ||||||
| chr12:119785623
|
GTGCAACC others(9): Show |
G | 2 | a0001c0002t0002g0045a0001c0002t0002g0046 | 2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.1296-574_1296-559d others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785623 | ||||||
| chr12:119785643
|
A | T | 3 | a0001c0001t0001g0010a0004c0018t0006g0005a0004c0018t0006g0006 | 3 | HG02257.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1296-578T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785643 | ||||||
| chr12:119785645
|
C | A | 1 | a0001c0002t0002g0067 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1296-580G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785645 | ||||||
| chr12:119785757
|
T | G | 3 | a0001c0001t0001g0010a0004c0018t0006g0005a0004c0018t0006g0006 | 3 | HG02257.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1296-692A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785757 | ||||||
| chr12:119785964
|
T | G | 92 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(89): Show | 92 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.1296-899A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785964 | ||||||
| chr12:119786180
|
G | A | 89 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(86): Show | 89 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.1296-1115C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119786180 | ||||||
| chr12:119786320
|
A | T | 4 | a0001c0013t0005g0029a0002c0004t0011g0035a0002c0004t0011g0038others(1): Show | 4 | HG01168.hp1 HG01169.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.1296-1255T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119786320 | ||||||
| chr12:119786421
|
G | C | 92 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(89): Show | 92 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.1296-1356C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119786421 | ||||||
| chr12:119786547
|
T | C | 92 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(89): Show | 92 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.1296-1482A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119786547 | ||||||
| chr12:119786806
|
C | T | 1 | a0001c0009t0009g0043 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1296-1741G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119786806 | ||||||
| chr12:119787115
|
C | T | 9 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221others(6): Show | 9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1296-2050G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787115 | ||||||
| chr12:119787129
|
T | A | 1 | a0001c0001t0001g0034 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1296-2064A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787129 | ||||||
| chr12:119787185
|
A | G | 87 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0015others(84): Show | 87 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.1296-2120T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787185 | ||||||
| chr12:119787432
|
TA | T | 146 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(143): Show | 146 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(143): Show |
intron_variant | MODIFIER | c.1296-2368delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787432 | ||||||
| chr12:119787648
|
A | G | 92 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(89): Show | 92 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.1296-2583T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787648 | ||||||
| chr12:119787655
|
C | T | 9 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221others(6): Show | 9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1296-2590G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787655 | ||||||
| chr12:119787706
|
G | A | 1 | a0006c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1296-2641C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787706 | ||||||
| chr12:119787717
|
T | C | 92 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(89): Show | 92 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.1296-2652A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787717 | ||||||
| chr12:119787730
|
C | CA | 10 | a0001c0001t0021g0171a0001c0002t0002g0222a0001c0003t0003g0183others(7): Show | 10 | HG01243.hp1 HG01243.hp2 HG02015.hp1 others(7): Show |
intron_variant | MODIFIER | c.1296-2666dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787730 | ||||||
| chr12:119787730
|
C | CAA | 5 | a0001c0001t0001g0126a0001c0001t0002g0127a0001c0008t0001g0210others(2): Show | 5 | HG02109.hp2 HG02165.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.1296-2667_1296-266 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787730 | ||||||
| chr12:119787730
|
C | CAAAAA | 68 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(65): Show | 68 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(65): Show |
intron_variant | MODIFIER | c.1296-2670_1296-266 others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787730 | ||||||
| chr12:119787730
|
C | CAAAAAA | 20 | a0001c0001t0001g0010a0001c0001t0001g0019a0001c0001t0001g0034others(17): Show | 20 | HG01081.hp1 HG02257.hp2 HG02451.hp1 others(17): Show |
intron_variant | MODIFIER | c.1296-2671_1296-266 others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787730 | ||||||
| chr12:119787761
|
TA | T | 92 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(89): Show | 92 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.1296-2697delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787761 | ||||||
| chr12:119787763
|
A | T | 3 | a0001c0001t0001g0010a0004c0018t0006g0005a0004c0018t0006g0006 | 3 | HG02257.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1296-2698T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787763 | ||||||
| chr12:119787908
|
G | C | 148 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(145): Show | 148 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(145): Show |
intron_variant | MODIFIER | c.1296-2843C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787908 | ||||||
| chr12:119787981
|
C | T | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1296-2916G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787981 | ||||||
| chr12:119788196
|
C | T | 7 | a0002c0004t0007g0050a0002c0004t0007g0052a0002c0004t0007g0053others(4): Show | 7 | HG02258.hp1 HG02280.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.1296-3131G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788196 | ||||||
| chr12:119788204
|
A | G | 1 | a0001c0005t0010g0216 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1296-3139T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788204 | ||||||
| chr12:119788238
|
A | AC | 6 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(3): Show | 6 | HG02647.hp2 HG02717.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1296-3174dupG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788238 | ||||||
| chr12:119788269
|
A | G | 92 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(89): Show | 92 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.1296-3204T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788269 | ||||||
| chr12:119788370
|
C | G | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1296-3305G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788370 | ||||||
| chr12:119788408
|
G | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1296-3343C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788408 | ||||||
| chr12:119788451
|
T | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1296-3386A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788451 | ||||||
| chr12:119788593
|
G | C | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1296-3528C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788593 | ||||||
| chr12:119788628
|
C | T | 89 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(86): Show | 89 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.1296-3563G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788628 | ||||||
| chr12:119788743
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1296-3678C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788743 | ||||||
| chr12:119789059
|
A | G | 92 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(89): Show | 92 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.1296-3994T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789059 | ||||||
| chr12:119789114
|
C | T | 9 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221others(6): Show | 9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1296-4049G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789114 | ||||||
| chr12:119789119
|
A | G | 92 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(89): Show | 92 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.1296-4054T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789119 | ||||||
| chr12:119789194
|
T | C | 91 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(88): Show | 91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1296-4129A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789194 | ||||||
| chr12:119789206
|
A | G | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1296-4141T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789206 | ||||||
| chr12:119789526
|
T | C | 8 | a0001c0001t0001g0009a0001c0001t0001g0017a0001c0001t0001g0019others(5): Show | 8 | HG02559.hp1 HG02622.hp2 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.1296-4461A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789526 | ||||||
| chr12:119789578
|
A | C | 90 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(87): Show | 90 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(87): Show |
intron_variant | MODIFIER | c.1296-4513T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789578 | ||||||
| chr12:119789614
|
A | T | 5 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212others(2): Show | 5 | HG02109.hp2 HG02280.hp1 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.1296-4549T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789614 | ||||||
| chr12:119789616
|
G | A | 90 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(87): Show | 90 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(87): Show |
intron_variant | MODIFIER | c.1296-4551C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789616 | ||||||
| chr12:119789730
|
C | T | 1 | a0001c0003t0003g0184 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1296-4665G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789730 | ||||||
| chr12:119789743
|
C | T | 89 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(86): Show | 89 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.1296-4678G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789743 | ||||||
| chr12:119789758
|
G | A | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1296-4693C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789758 | ||||||
| chr12:119789864
|
C | T | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1296-4799G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789864 | ||||||
| chr12:119789872
|
A | ATT | 6 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(3): Show | 6 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.1296-4809_1296-480 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789872 | ||||||
| chr12:119789936
|
A | G | 202 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(199): Show | 202 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(199): Show |
intron_variant | MODIFIER | c.1296-4871T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789936 | ||||||
| chr12:119789958
|
C | T | 71 | a0001c0001t0002g0095a0001c0001t0004g0104a0001c0001t0005g0020others(68): Show | 71 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(68): Show |
intron_variant | MODIFIER | c.1296-4893G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789958 | ||||||
| chr12:119790006
|
A | G | 90 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(87): Show | 90 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(87): Show |
intron_variant | MODIFIER | c.1296-4941T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790006 | ||||||
| chr12:119790010
|
G | A | 90 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(87): Show | 90 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(87): Show |
intron_variant | MODIFIER | c.1296-4945C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790010 | ||||||
| chr12:119790043
|
C | T | 1 | a0001c0002t0013g0071 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1296-4978G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790043 | ||||||
| chr12:119790079
|
C | A | 1 | a0001c0001t0001g0122 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.1296-5014G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790079 | ||||||
| chr12:119790089
|
C | A | 4 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0175others(1): Show | 4 | HG01258.hp1 HG03239.hp1 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.1296-5024G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790089 | ||||||
| chr12:119790164
|
T | C | 1 | a0001c0002t0002g0072 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.1296-5099A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790164 | ||||||
| chr12:119790268
|
G | A | 1 | a0001c0015t0006g0004 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1296-5203C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790268 | ||||||
| chr12:119790268
|
G | T | 89 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(86): Show | 89 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.1296-5203C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790268 | ||||||
| chr12:119790394
|
T | C | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1296-5329A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790394 | ||||||
| chr12:119790718
|
TA | T | 9 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221others(6): Show | 9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1296-5654delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790718 | ||||||
| chr12:119790740
|
T | C | 91 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(88): Show | 91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1296-5675A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790740 | ||||||
| chr12:119790899
|
T | C | 89 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(86): Show | 89 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.1296-5834A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790899 | ||||||
| chr12:119790988
|
T | C | 91 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(88): Show | 91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1296-5923A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790988 | ||||||
| chr12:119791142
|
G | C | 1 | a0001c0030t0005g0032 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1296-6077C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119791142 | ||||||
| chr12:119791840
|
T | C | 6 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(3): Show | 6 | HG02647.hp2 HG02717.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1296-6775A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119791840 | ||||||
| chr12:119791867
|
G | A | 10 | a0001c0001t0001g0010a0001c0005t0010g0216a0001c0005t0010g0217others(7): Show | 10 | HG01109.hp1 HG02257.hp1 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.1296-6802C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119791867 | ||||||
| chr12:119791876
|
T | C | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1296-6811A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119791876 | ||||||
| chr12:119791898
|
T | C | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1296-6833A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119791898 | ||||||
| chr12:119792019
|
T | A | 4 | a0001c0001t0001g0009a0001c0008t0001g0210a0001c0008t0001g0211others(1): Show | 4 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.1296-6954A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792019 | ||||||
| chr12:119792138
|
G | A | 39 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0001g0200others(36): Show | 39 | HG01109.hp1 HG01928.hp1 HG01934.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296-7073C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792138 | ||||||
| chr12:119792462
|
T | A | 1 | a0001c0001t0001g0226 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1296-7397A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792462 | ||||||
| chr12:119792602
|
T | A | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1296-7537A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792602 | ||||||
| chr12:119792677
|
G | A | 4 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0013t0003g0025others(1): Show | 4 | HG01243.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1296-7612C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792677 | ||||||
| chr12:119792702
|
C | T | 234 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(231): Show | 234 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(231): Show |
intron_variant | MODIFIER | c.1296-7637G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792702 | ||||||
| chr12:119792703
|
A | G | 234 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(231): Show | 234 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(231): Show |
intron_variant | MODIFIER | c.1296-7638T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792703 | ||||||
| chr12:119792836
|
C | T | 9 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221others(6): Show | 9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1296-7771G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792836 | ||||||
| chr12:119792882
|
A | C | 4 | a0001c0001t0001g0009a0001c0008t0001g0210a0001c0008t0001g0211others(1): Show | 4 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.1296-7817T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792882 | ||||||
| chr12:119792894
|
G | A | 1 | a0001c0025t0003g0064 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1296-7829C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792894 | ||||||
| chr12:119792895
|
G | C | 1 | a0005c0020t0001g0027 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.1296-7830C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792895 | ||||||
| chr12:119792905
|
T | C | 25 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0001g0200others(22): Show | 25 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(22): Show |
intron_variant | MODIFIER | c.1296-7840A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792905 | ||||||
| chr12:119792918
|
C | T | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1296-7853G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792918 | ||||||
| chr12:119792939
|
C | T | 1 | a0001c0001t0001g0180 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1296-7874G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792939 | ||||||
| chr12:119793074
|
C | A | 1 | a0001c0010t0002g0103 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.1296-8009G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119793074 | ||||||
| chr12:119793275
|
C | T | 88 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0015others(85): Show | 88 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.1296-8210G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119793275 | ||||||
| chr12:119793293
|
C | CT | 4 | a0001c0002t0013g0048a0001c0002t0013g0071a0001c0012t0002g0101others(1): Show | 4 | HG00738.hp1 HG00741.hp1 HG03710.hp2 others(1): Show |
intron_variant | MODIFIER | c.1296-8229dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119793293 | ||||||
| chr12:119793601
|
A | T | 21 | a0001c0001t0001g0010a0001c0001t0005g0020a0001c0005t0008g0021others(18): Show | 21 | HG01168.hp1 HG01169.hp2 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.1296-8536T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119793601 | ||||||
| chr12:119793849
|
T | C | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1296-8784A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119793849 | ||||||
| chr12:119794073
|
C | T | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1296-9008G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794073 | ||||||
| chr12:119794156
|
CA | C | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1295+9049delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794156 | ||||||
| chr12:119794270
|
G | GTGAA | 35 | a0001c0001t0005g0020a0001c0001t0008g0135a0001c0003t0003g0024others(32): Show | 35 | HG00733.hp1 HG01106.hp1 HG01109.hp1 others(32): Show |
intron_variant | MODIFIER | c.1295+8932_1295+893 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794270 | ||||||
| chr12:119794270
|
G | GTGAATGA others(1): Show |
2 | a0001c0007t0005g0030a0001c0007t0005g0062 | 2 | HG02970.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.1295+8928_1295+893 others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794270 | ||||||
| chr12:119794457
|
T | C | 20 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(17): Show | 20 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(17): Show |
intron_variant | MODIFIER | c.1295+8749A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794457 | ||||||
| chr12:119794458
|
G | A | 20 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(17): Show | 20 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(17): Show |
intron_variant | MODIFIER | c.1295+8748C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794458 | ||||||
| chr12:119794663
|
A | G | 152 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(149): Show | 152 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(149): Show |
intron_variant | MODIFIER | c.1295+8543T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794663 | ||||||
| chr12:119794667
|
G | A | 20 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(17): Show | 20 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(17): Show |
intron_variant | MODIFIER | c.1295+8539C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794667 | ||||||
| chr12:119794769
|
G | A | 8 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(5): Show | 8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1295+8437C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794769 | ||||||
| chr12:119794842
|
A | G | 21 | a0001c0001t0001g0010a0001c0001t0005g0020a0001c0005t0008g0021others(18): Show | 21 | HG01168.hp1 HG01169.hp2 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.1295+8364T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794842 | ||||||
| chr12:119794936
|
G | C | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1295+8270C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794936 | ||||||
| chr12:119794981
|
G | A | 25 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0001g0200others(22): Show | 25 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(22): Show |
intron_variant | MODIFIER | c.1295+8225C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794981 | ||||||
| chr12:119795147
|
C | T | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+8059G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795147 | ||||||
| chr12:119795177
|
T | C | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+8029A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795177 | ||||||
| chr12:119795319
|
G | A | 2 | a0001c0001t0002g0120a0001c0001t0002g0144 | 2 | NA18960.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.1295+7887C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795319 | ||||||
| chr12:119795349
|
C | T | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+7857G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795349 | ||||||
| chr12:119795366
|
A | G | 8 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(5): Show | 8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1295+7840T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795366 | ||||||
| chr12:119795442
|
T | C | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+7764A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795442 | ||||||
| chr12:119795469
|
C | T | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+7737G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795469 | ||||||
| chr12:119795526
|
C | A | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+7680G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795526 | ||||||
| chr12:119795797
|
T | C | 72 | a0001c0001t0001g0010a0001c0001t0002g0095a0001c0001t0004g0104others(69): Show | 72 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(69): Show |
intron_variant | MODIFIER | c.1295+7409A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795797 | ||||||
| chr12:119796006
|
G | T | 4 | a0001c0013t0005g0029a0002c0004t0011g0035a0002c0004t0011g0038others(1): Show | 4 | HG01168.hp1 HG01169.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.1295+7200C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796006 | ||||||
| chr12:119796067
|
C | T | 9 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221others(6): Show | 9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1295+7139G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796067 | ||||||
| chr12:119796128
|
C | T | 1 | a0002c0004t0007g0033 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1295+7078G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796128 | ||||||
| chr12:119796224
|
G | A | 6 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(3): Show | 6 | HG02647.hp2 HG02717.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1295+6982C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796224 | ||||||
| chr12:119796301
|
G | A | 1 | a0001c0001t0001g0034 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1295+6905C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796301 | ||||||
| chr12:119796337
|
A | T | 72 | a0001c0001t0001g0010a0001c0001t0002g0095a0001c0001t0004g0104others(69): Show | 72 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(69): Show |
intron_variant | MODIFIER | c.1295+6869T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796337 | ||||||
| chr12:119796424
|
T | C | 70 | a0001c0001t0002g0095a0001c0001t0004g0104a0001c0001t0005g0020others(67): Show | 70 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(67): Show |
intron_variant | MODIFIER | c.1295+6782A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796424 | ||||||
| chr12:119796572
|
G | C | 87 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(84): Show | 87 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.1295+6634C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796572 | ||||||
| chr12:119796665
|
C | T | 70 | a0001c0001t0002g0095a0001c0001t0004g0104a0001c0001t0005g0020others(67): Show | 70 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(67): Show |
intron_variant | MODIFIER | c.1295+6541G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796665 | ||||||
| chr12:119796742
|
A | T | 1 | a0001c0012t0002g0203 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1295+6464T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796742 | ||||||
| chr12:119797066
|
A | G | 81 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(78): Show | 81 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(78): Show |
intron_variant | MODIFIER | c.1295+6140T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119797066 | ||||||
| chr12:119797208
|
C | CA | 3 | a0001c0001t0001g0034a0001c0009t0009g0036a0001c0009t0009g0043 | 3 | HG02630.hp1 HG02809.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1295+5997dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119797208 | ||||||
| chr12:119797627
|
C | T | 1 | a0001c0001t0001g0121 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.1295+5579G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119797627 | ||||||
| chr12:119798068
|
C | T | 2 | a0001c0001t0001g0147a0001c0001t0002g0141 | 2 | NA18959.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.1295+5138G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119798068 | ||||||
| chr12:119798311
|
C | G | 1 | a0001c0002t0002g0081 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1295+4895G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119798311 | ||||||
| chr12:119798336
|
G | A | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+4870C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119798336 | ||||||
| chr12:119798678
|
T | C | 202 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(199): Show | 202 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(199): Show |
intron_variant | MODIFIER | c.1295+4528A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119798678 | ||||||
| chr12:119798716
|
G | A | 25 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0001g0200others(22): Show | 25 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(22): Show |
intron_variant | MODIFIER | c.1295+4490C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119798716 | ||||||
| chr12:119798860
|
G | A | 2 | a0001c0001t0001g0202a0001c0001t0004g0204 | 2 | NA18984.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.1295+4346C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119798860 | ||||||
| chr12:119798939
|
A | C | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1295+4267T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119798939 | ||||||
| chr12:119798950
|
T | C | 97 | a0001c0001t0001g0010a0001c0001t0001g0172a0001c0001t0001g0174others(94): Show | 97 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(94): Show |
intron_variant | MODIFIER | c.1295+4256A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119798950 | ||||||
| chr12:119799501
|
T | C | 1 | a0001c0001t0001g0008 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.1295+3705A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119799501 | ||||||
| chr12:119799836
|
T | C | 3 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0228 | 3 | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1295+3370A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119799836 | ||||||
| chr12:119799841
|
G | GT | 18 | a0001c0001t0003g0106a0001c0002t0002g0089a0001c0002t0002g0156others(15): Show | 18 | HG01109.hp1 HG01515.hp1 HG02257.hp1 others(15): Show |
intron_variant | MODIFIER | c.1295+3364dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119799841 | ||||||
| chr12:119799841
|
G | GTT | 85 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(82): Show | 85 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(82): Show |
intron_variant | MODIFIER | c.1295+3363_1295+336 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119799841 | ||||||
| chr12:119799921
|
C | T | 25 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0001g0200others(22): Show | 25 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(22): Show |
intron_variant | MODIFIER | c.1295+3285G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119799921 | ||||||
| chr12:119799987
|
C | T | 79 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(76): Show | 79 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.1295+3219G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119799987 | ||||||
| chr12:119800038
|
C | G | 25 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0001g0200others(22): Show | 25 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(22): Show |
intron_variant | MODIFIER | c.1295+3168G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119800038 | ||||||
| chr12:119800189
|
T | G | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+3017A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119800189 | ||||||
| chr12:119800470
|
A | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1295+2736T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119800470 | ||||||
| chr12:119800693
|
C | T | 73 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0017others(70): Show | 73 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(70): Show |
intron_variant | MODIFIER | c.1295+2513G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119800693 | ||||||
| chr12:119801389
|
G | A | 89 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0015others(86): Show | 89 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.1295+1817C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119801389 | ||||||
| chr12:119801493
|
C | T | 14 | a0001c0013t0005g0029a0001c0015t0006g0004a0002c0004t0003g0044others(11): Show | 14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.1295+1713G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119801493 | ||||||
| chr12:119801608
|
G | A | 1 | a0001c0003t0017g0060 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1295+1598C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119801608 | ||||||
| chr12:119801690
|
G | A | 2 | a0001c0001t0001g0117a0001c0001t0001g0118 | 2 | HG00738.hp2 HG01069.hp2 |
intron_variant | MODIFIER | c.1295+1516C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119801690 | ||||||
| chr12:119802128
|
A | G | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1295+1078T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119802128 | ||||||
| chr12:119802161
|
G | A | 1 | a0001c0003t0005g0186 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1295+1045C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119802161 | ||||||
| chr12:119802292
|
G | A | 2 | a0001c0001t0006g0125a0001c0001t0016g0124 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.1295+914C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119802292 | ||||||
| chr12:119802344
|
A | C | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+862T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119802344 | ||||||
| chr12:119802389
|
C | T | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+817G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119802389 | ||||||
| chr12:119802557
|
G | A | 2 | a0001c0005t0010g0042a0001c0005t0022g0041 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1295+649C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119802557 | ||||||
| chr12:119803158
|
A | G | 2 | a0001c0005t0010g0042a0001c0005t0022g0041 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1295+48T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119803158 | ||||||
| chr12:119803433
|
T | A | 1 | a0001c0006t0012g0115 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.1112-44A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119803433 | ||||||
| chr12:119803441
|
G | A | 4 | a0001c0001t0001g0009a0001c0008t0001g0210a0001c0008t0001g0211others(1): Show | 4 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.1112-52C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119803441 | ||||||
| chr12:119803454
|
T | C | 1 | a0001c0001t0026g0233 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1112-65A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119803454 | ||||||
| chr12:119803640
|
T | TCACTTGG others(11): Show |
1 | a0001c0002t0001g0087 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.1112-269_1112-252d others(20): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119803640 | ||||||
| chr12:119803760
|
T | A | 4 | a0001c0001t0001g0009a0001c0008t0001g0210a0001c0008t0001g0211others(1): Show | 4 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.1112-371A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119803760 | ||||||
| chr12:119803988
|
C | CT | 19 | a0001c0001t0001g0172a0001c0001t0005g0020a0001c0005t0008g0021others(16): Show | 19 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(16): Show |
intron_variant | MODIFIER | c.1112-600dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119803988 | ||||||
| chr12:119803988
|
C | CTT | 6 | a0001c0001t0001g0009a0001c0008t0001g0210a0001c0008t0001g0211others(3): Show | 6 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.1112-601_1112-600d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119803988 | ||||||
| chr12:119804081
|
CAAAT | C | 6 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1112-696_1112-693d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804081 | ||||||
| chr12:119804085
|
T | C | 3 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0228 | 3 | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1112-696A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804085 | ||||||
| chr12:119804201
|
T | C | 1 | a0001c0017t0003g0012 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1112-812A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804201 | ||||||
| chr12:119804210
|
C | G | 54 | a0001c0001t0001g0010a0001c0001t0002g0095a0001c0001t0004g0104others(51): Show | 54 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(51): Show |
intron_variant | MODIFIER | c.1112-821G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804210 | ||||||
| chr12:119804458
|
C | T | 54 | a0001c0001t0002g0095a0001c0001t0004g0104a0001c0001t0004g0157others(51): Show | 54 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(51): Show |
intron_variant | MODIFIER | c.1112-1069G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804458 | ||||||
| chr12:119804516
|
C | G | 3 | a0001c0001t0001g0206a0001c0001t0001g0224a0001c0001t0015g0094 | 3 | HG01168.hp2 HG01928.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.1112-1127G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804516 | ||||||
| chr12:119804517
|
G | C | 3 | a0001c0001t0001g0206a0001c0001t0001g0224a0001c0001t0015g0094 | 3 | HG01168.hp2 HG01928.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.1112-1128C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804517 | ||||||
| chr12:119804518
|
C | A | 3 | a0001c0001t0001g0206a0001c0001t0001g0224a0001c0001t0015g0094 | 3 | HG01168.hp2 HG01928.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.1112-1129G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804518 | ||||||
| chr12:119804530
|
A | G | 1 | a0001c0030t0005g0032 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1112-1141T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804530 | ||||||
| chr12:119804586
|
T | C | 9 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221others(6): Show | 9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1112-1197A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804586 | ||||||
| chr12:119805041
|
A | G | 142 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(139): Show | 142 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(139): Show |
intron_variant | MODIFIER | c.1112-1652T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805041 | ||||||
| chr12:119805076
|
C | CA | 201 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(198): Show | 201 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(198): Show |
intron_variant | MODIFIER | c.1112-1688dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805076 | ||||||
| chr12:119805152
|
C | T | 1 | a0001c0001t0001g0179 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1112-1763G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805152 | ||||||
| chr12:119805261
|
C | G | 142 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(139): Show | 142 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(139): Show |
intron_variant | MODIFIER | c.1112-1872G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805261 | ||||||
| chr12:119805432
|
C | T | 7 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(4): Show | 7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1112-2043G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805432 | ||||||
| chr12:119805544
|
C | T | 1 | a0001c0013t0003g0025 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1112-2155G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805544 | ||||||
| chr12:119805656
|
T | C | 24 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0002g0139others(21): Show | 24 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(21): Show |
intron_variant | MODIFIER | c.1112-2267A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805656 | ||||||
| chr12:119805695
|
A | G | 186 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(183): Show | 186 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(183): Show |
intron_variant | MODIFIER | c.1112-2306T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805695 | ||||||
| chr12:119805998
|
G | A | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1112-2609C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805998 | ||||||
| chr12:119805999
|
T | C | 1 | a0001c0002t0001g0058 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1112-2610A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805999 | ||||||
| chr12:119806125
|
G | A | 9 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221others(6): Show | 9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1112-2736C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806125 | ||||||
| chr12:119806129
|
C | T | 2 | a0001c0012t0002g0101a0001c0012t0002g0203 | 2 | HG03710.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.1112-2740G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806129 | ||||||
| chr12:119806133
|
A | G | 206 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(203): Show | 206 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(203): Show |
intron_variant | MODIFIER | c.1112-2744T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806133 | ||||||
| chr12:119806137
|
C | CA | 47 | a0001c0001t0001g0172a0001c0001t0001g0181a0001c0001t0001g0195others(44): Show | 47 | HG00280.hp1 HG00735.hp2 HG01069.hp1 others(44): Show |
intron_variant | MODIFIER | c.1112-2749dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806137 | ||||||
| chr12:119806137
|
C | CAA | 24 | a0001c0001t0001g0174a0001c0001t0004g0161a0001c0001t0004g0166others(21): Show | 24 | HG01168.hp1 HG01243.hp1 HG02258.hp1 others(21): Show |
intron_variant | MODIFIER | c.1112-2750_1112-274 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806137 | ||||||
| chr12:119806137
|
C | CAAAA | 10 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(7): Show | 10 | HG02451.hp1 HG02630.hp1 HG02717.hp1 others(7): Show |
intron_variant | MODIFIER | c.1112-2752_1112-274 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806137 | ||||||
| chr12:119806137
|
CA | C | 119 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(116): Show | 119 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(116): Show |
intron_variant | MODIFIER | c.1112-2749delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806137 | ||||||
| chr12:119806137
|
CAA | C | 14 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0006g0116others(11): Show | 14 | HG00408.hp1 HG00733.hp2 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.1112-2750_1112-274 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806137 | ||||||
| chr12:119806508
|
A | T | 54 | a0001c0001t0001g0010a0001c0001t0002g0095a0001c0001t0004g0104others(51): Show | 54 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(51): Show |
intron_variant | MODIFIER | c.1112-3119T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806508 | ||||||
| chr12:119806556
|
G | C | 7 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(4): Show | 7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1112-3167C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806556 | ||||||
| chr12:119806893
|
T | G | 206 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(203): Show | 206 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(203): Show |
intron_variant | MODIFIER | c.1112-3504A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806893 | ||||||
| chr12:119806999
|
C | T | 24 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0002g0139others(21): Show | 24 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(21): Show |
intron_variant | MODIFIER | c.1112-3610G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806999 | ||||||
| chr12:119807429
|
T | G | 24 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0002g0139others(21): Show | 24 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(21): Show |
intron_variant | MODIFIER | c.1112-4040A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119807429 | ||||||
| chr12:119807468
|
A | AT | 15 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(12): Show | 15 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.1112-4080dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119807468 | ||||||
| chr12:119807791
|
G | A | 142 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(139): Show | 142 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(139): Show |
intron_variant | MODIFIER | c.1112-4402C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119807791 | ||||||
| chr12:119807840
|
A | T | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1112-4451T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119807840 | ||||||
| chr12:119807890
|
T | TA | 13 | a0001c0001t0005g0020a0001c0005t0008g0215a0001c0005t0010g0042others(10): Show | 13 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.1112-4502dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119807890 | ||||||
| chr12:119808039
|
T | A | 1 | a0001c0014t0001g0084 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1112-4650A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119808039 | ||||||
| chr12:119808039
|
T | C | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1112-4650A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119808039 | ||||||
| chr12:119808197
|
C | T | 1 | a0001c0014t0001g0084 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1112-4808G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119808197 | ||||||
| chr12:119808525
|
T | TA | 5 | a0001c0001t0004g0157a0001c0002t0013g0048a0001c0002t0013g0071others(2): Show | 5 | HG00738.hp1 HG00741.hp1 HG03710.hp2 others(2): Show |
intron_variant | MODIFIER | c.1112-5137dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119808525 | ||||||
| chr12:119808538
|
T | C | 1 | a0001c0003t0003g0209 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1112-5149A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119808538 | ||||||
| chr12:119809022
|
T | C | 28 | a0001c0001t0001g0034a0001c0001t0005g0020a0001c0003t0003g0037others(25): Show | 28 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(25): Show |
intron_variant | MODIFIER | c.1112-5633A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119809022 | ||||||
| chr12:119809173
|
G | A | 7 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(4): Show | 7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1112-5784C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119809173 | ||||||
| chr12:119809238
|
G | C | 1 | a0007c0022t0002g0082 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.1112-5849C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119809238 | ||||||
| chr12:119809253
|
C | T | 1 | a0001c0027t0002g0079 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.1112-5864G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119809253 | ||||||
| chr12:119809340
|
T | C | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1112-5951A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119809340 | ||||||
| chr12:119809647
|
G | A | 7 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(4): Show | 7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1112-6258C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119809647 | ||||||
| chr12:119810198
|
A | C | 1 | a0001c0001t0002g0139 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.1112-6809T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119810198 | ||||||
| chr12:119810601
|
G | C | 2 | a0001c0001t0001g0147a0001c0001t0002g0141 | 2 | NA18959.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.1112-7212C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119810601 | ||||||
| chr12:119810706
|
G | GA | 8 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(5): Show | 8 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1112-7318dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119810706 | ||||||
| chr12:119810706
|
GA | G | 172 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(169): Show | 172 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(169): Show |
intron_variant | MODIFIER | c.1112-7318delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119810706 | ||||||
| chr12:119810706
|
GAA | G | 22 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0001g0225others(19): Show | 22 | HG01167.hp2 HG01257.hp1 HG01928.hp1 others(19): Show |
intron_variant | MODIFIER | c.1112-7319_1112-731 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119810706 | ||||||
| chr12:119810837
|
T | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1112-7448A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119810837 | ||||||
| chr12:119811185
|
G | C | 1 | a0001c0011t0009g0098 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1112-7796C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811185 | ||||||
| chr12:119811222
|
G | A | 5 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0175others(2): Show | 5 | HG01258.hp1 HG03239.hp1 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.1112-7833C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811222 | ||||||
| chr12:119811585
|
T | A | 2 | a0001c0001t0001g0015a0001c0001t0001g0016 | 2 | HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1112-8196A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811585 | ||||||
| chr12:119811616
|
C | T | 1 | a0001c0002t0002g0067 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1112-8227G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811616 | ||||||
| chr12:119811735
|
C | T | 21 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(18): Show | 21 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(18): Show |
intron_variant | MODIFIER | c.1112-8346G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811735 | ||||||
| chr12:119811846
|
A | C | 21 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(18): Show | 21 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(18): Show |
intron_variant | MODIFIER | c.1112-8457T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811846 | ||||||
| chr12:119811943
|
A | AT | 73 | a0001c0001t0001g0047a0001c0001t0001g0097a0001c0001t0001g0100others(70): Show | 73 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(70): Show |
intron_variant | MODIFIER | c.1112-8555dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811943 | ||||||
| chr12:119811943
|
A | ATT | 5 | a0001c0001t0001g0001a0001c0001t0001g0230a0001c0001t0004g0170others(2): Show | 5 | HG03492.hp1 NA18955.hp1 NA18955.hp2 others(2): Show |
intron_variant | MODIFIER | c.1112-8556_1112-855 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811943 | ||||||
| chr12:119811943
|
AT | A | 25 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(22): Show | 25 | HG00733.hp1 HG01168.hp1 HG01169.hp2 others(22): Show |
intron_variant | MODIFIER | c.1112-8555delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811943 | ||||||
| chr12:119811943
|
ATTTT | A | 6 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1112-8558_1112-855 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811943 | ||||||
| chr12:119812136
|
C | T | 2 | a0001c0006t0027g0234a0010c0032t0001g0028 | 2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1112-8747G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812136 | ||||||
| chr12:119812173
|
T | C | 204 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(201): Show | 204 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(201): Show |
intron_variant | MODIFIER | c.1112-8784A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812173 | ||||||
| chr12:119812251
|
C | A | 1 | a0001c0017t0003g0012 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1112-8862G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812251 | ||||||
| chr12:119812399
|
C | T | 5 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(2): Show | 5 | HG02717.hp2 HG02723.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1112-9010G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812399 | ||||||
| chr12:119812629
|
G | A | 172 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(169): Show | 172 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(169): Show |
intron_variant | MODIFIER | c.1112-9240C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812629 | ||||||
| chr12:119812701
|
A | G | 180 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(177): Show | 180 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(177): Show |
intron_variant | MODIFIER | c.1112-9312T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812701 | ||||||
| chr12:119812745
|
AT | A | 189 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(186): Show | 189 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(186): Show |
intron_variant | MODIFIER | c.1112-9357delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812745 | ||||||
| chr12:119812745
|
ATT | A | 6 | a0001c0002t0002g0066a0001c0003t0017g0060a0001c0008t0001g0210others(3): Show | 6 | HG00733.hp1 HG02280.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1112-9358_1112-935 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812745 | ||||||
| chr12:119812950
|
T | C | 1 | a0001c0010t0002g0103 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.1112-9561A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812950 | ||||||
| chr12:119813054
|
C | A | 22 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0002g0139others(19): Show | 22 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(19): Show |
intron_variant | MODIFIER | c.1112-9665G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119813054 | ||||||
| chr12:119813254
|
C | T | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1111+9566G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119813254 | ||||||
| chr12:119813576
|
A | G | 181 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(178): Show | 181 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(178): Show |
intron_variant | MODIFIER | c.1111+9244T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119813576 | ||||||
| chr12:119813693
|
A | G | 1 | a0001c0030t0005g0032 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1111+9127T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119813693 | ||||||
| chr12:119813871
|
G | A | 7 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(4): Show | 7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1111+8949C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119813871 | ||||||
| chr12:119814086
|
T | C | 1 | a0001c0034t0001g0063 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1111+8734A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119814086 | ||||||
| chr12:119814234
|
G | T | 22 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0002g0139others(19): Show | 22 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(19): Show |
intron_variant | MODIFIER | c.1111+8586C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119814234 | ||||||
| chr12:119814328
|
C | G | 142 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(139): Show | 142 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(139): Show |
intron_variant | MODIFIER | c.1111+8492G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119814328 | ||||||
| chr12:119814471
|
C | T | 7 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(4): Show | 7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1111+8349G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119814471 | ||||||
| chr12:119814503
|
C | T | 1 | a0001c0002t0002g0090 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.1111+8317G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119814503 | ||||||
| chr12:119814794
|
T | C | 1 | a0001c0001t0026g0233 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1111+8026A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119814794 | ||||||
| chr12:119814992
|
C | T | 163 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(160): Show | 163 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(160): Show |
intron_variant | MODIFIER | c.1111+7828G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119814992 | ||||||
| chr12:119815008
|
A | T | 1 | a0006c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1111+7812T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815008 | ||||||
| chr12:119815037
|
C | CA | 15 | a0001c0001t0001g0001a0001c0001t0001g0034a0001c0001t0001g0049others(12): Show | 15 | HG01109.hp1 HG02451.hp1 HG02523.hp2 others(12): Show |
intron_variant | MODIFIER | c.1111+7782dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815037 | ||||||
| chr12:119815066
|
G | A | 175 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(172): Show | 175 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(172): Show |
intron_variant | MODIFIER | c.1111+7754C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815066 | ||||||
| chr12:119815104
|
CA | C | 23 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0002g0139others(20): Show | 23 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(20): Show |
intron_variant | MODIFIER | c.1111+7715delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815104 | ||||||
| chr12:119815105
|
AAC | A | 7 | a0001c0003t0003g0183a0001c0003t0003g0208a0001c0003t0003g0209others(4): Show | 7 | HG01243.hp1 HG02630.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.1111+7713_1111+771 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815105 | ||||||
| chr12:119815105
|
AACAC | A | 15 | a0001c0001t0001g0001a0001c0001t0001g0034a0001c0001t0001g0133others(12): Show | 15 | HG01258.hp1 HG02451.hp1 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.1111+7711_1111+771 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815105 | ||||||
| chr12:119815105
|
AACACAC | A | 142 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(139): Show | 142 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(139): Show |
intron_variant | MODIFIER | c.1111+7709_1111+771 others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815105 | ||||||
| chr12:119815105
|
AACACACA others(1): Show |
A | 13 | a0001c0013t0005g0029a0001c0015t0006g0004a0002c0004t0003g0044others(10): Show | 13 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.1111+7707_1111+771 others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815105 | ||||||
| chr12:119815106
|
A | C | 1 | a0001c0001t0004g0173 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.1111+7714T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815106 | ||||||
| chr12:119815107
|
C | A | 1 | a0001c0001t0004g0173 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.1111+7713G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815107 | ||||||
| chr12:119815108
|
AC | A | 23 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0002g0139others(20): Show | 23 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(20): Show |
intron_variant | MODIFIER | c.1111+7711delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815108 | ||||||
| chr12:119815170
|
G | C | 1 | a0001c0001t0001g0100 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.1111+7650C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815170 | ||||||
| chr12:119815245
|
A | AT | 11 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(8): Show | 11 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.1111+7574_1111+757 others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815245 | ||||||
| chr12:119815435
|
G | A | 1 | a0001c0035t0003g0007 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1111+7385C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815435 | ||||||
| chr12:119815581
|
C | T | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+7239G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815581 | ||||||
| chr12:119815649
|
C | T | 173 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(170): Show | 173 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(170): Show |
intron_variant | MODIFIER | c.1111+7171G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815649 | ||||||
| chr12:119815854
|
G | A | 173 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(170): Show | 173 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(170): Show |
intron_variant | MODIFIER | c.1111+6966C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815854 | ||||||
| chr12:119815915
|
G | A | 7 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(4): Show | 7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1111+6905C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815915 | ||||||
| chr12:119816043
|
T | C | 3 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212 | 3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1111+6777A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119816043 | ||||||
| chr12:119816341
|
C | T | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1111+6479G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119816341 | ||||||
| chr12:119816432
|
A | G | 1 | a0001c0025t0003g0064 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1111+6388T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119816432 | ||||||
| chr12:119816532
|
C | T | 3 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212 | 3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1111+6288G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119816532 | ||||||
| chr12:119816640
|
C | T | 7 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(4): Show | 7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1111+6180G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119816640 | ||||||
| chr12:119816697
|
G | GCTGTTCG others(11): Show |
1 | a0001c0025t0003g0064 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1111+6105_1111+612 others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119816697 | ||||||
| chr12:119816854
|
T | A | 1 | a0001c0035t0003g0007 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1111+5966A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119816854 | ||||||
| chr12:119817003
|
C | A | 9 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221others(6): Show | 9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1111+5817G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817003 | ||||||
| chr12:119817103
|
T | C | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1111+5717A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817103 | ||||||
| chr12:119817199
|
C | G | 2 | a0001c0006t0027g0234a0010c0032t0001g0028 | 2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1111+5621G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817199 | ||||||
| chr12:119817302
|
G | C | 142 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(139): Show | 142 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(139): Show |
intron_variant | MODIFIER | c.1111+5518C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817302 | ||||||
| chr12:119817425
|
T | C | 1 | a0001c0015t0006g0004 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1111+5395A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817425 | ||||||
| chr12:119817802
|
T | C | 48 | a0001c0001t0002g0095a0001c0001t0004g0104a0001c0001t0004g0157others(45): Show | 48 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(45): Show |
intron_variant | MODIFIER | c.1111+5018A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817802 | ||||||
| chr12:119817814
|
T | A | 7 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(4): Show | 7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1111+5006A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817814 | ||||||
| chr12:119817814
|
T | G | 1 | a0001c0002t0002g0083 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.1111+5006A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817814 | ||||||
| chr12:119817911
|
T | TA | 7 | a0001c0001t0001g0018a0001c0001t0001g0034a0001c0001t0005g0020others(4): Show | 7 | HG02723.hp1 HG02922.hp1 HG03195.hp2 others(4): Show |
intron_variant | MODIFIER | c.1111+4908dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817911 | ||||||
| chr12:119818180
|
G | C | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1111+4640C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119818180 | ||||||
| chr12:119818355
|
A | G | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+4465T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119818355 | ||||||
| chr12:119818372
|
T | G | 1 | a0001c0001t0001g0049 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1111+4448A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119818372 | ||||||
| chr12:119818441
|
T | C | 142 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(139): Show | 142 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(139): Show |
intron_variant | MODIFIER | c.1111+4379A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119818441 | ||||||
| chr12:119818520
|
C | T | 9 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221others(6): Show | 9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1111+4300G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119818520 | ||||||
| chr12:119818549
|
G | C | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1111+4271C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119818549 | ||||||
| chr12:119818661
|
T | C | 1 | a0001c0006t0024g0112 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1111+4159A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119818661 | ||||||
| chr12:119818797
|
A | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+4023T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119818797 | ||||||
| chr12:119819041
|
G | A | 1 | a0003c0019t0003g0231 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1111+3779C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119819041 | ||||||
| chr12:119819078
|
G | A | 82 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(79): Show | 82 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1111+3742C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119819078 | ||||||
| chr12:119819362
|
T | G | 206 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(203): Show | 206 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(203): Show |
intron_variant | MODIFIER | c.1111+3458A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119819362 | ||||||
| chr12:119819410
|
A | G | 4 | a0001c0001t0002g0095a0001c0002t0002g0065a0001c0002t0002g0074others(1): Show | 4 | HG02027.hp2 HG02056.hp1 NA18747.hp2 others(1): Show |
intron_variant | MODIFIER | c.1111+3410T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119819410 | ||||||
| chr12:119819485
|
T | C | 1 | a0001c0005t0010g0221 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1111+3335A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119819485 | ||||||
| chr12:119819700
|
T | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+3120A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119819700 | ||||||
| chr12:119819820
|
T | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+3000A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119819820 | ||||||
| chr12:119820019
|
A | C | 3 | a0001c0001t0001g0134a0001c0001t0002g0105a0001c0001t0025g0107 | 3 | NA18747.hp1 NA19000.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.1111+2801T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820019 | ||||||
| chr12:119820109
|
G | A | 11 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(8): Show | 11 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.1111+2711C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820109 | ||||||
| chr12:119820150
|
T | C | 7 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(4): Show | 7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1111+2670A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820150 | ||||||
| chr12:119820357
|
C | G | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+2463G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820357 | ||||||
| chr12:119820498
|
C | T | 1 | a0001c0005t0008g0182 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1111+2322G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820498 | ||||||
| chr12:119820578
|
T | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+2242A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820578 | ||||||
| chr12:119820611
|
G | A | 11 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(8): Show | 11 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.1111+2209C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820611 | ||||||
| chr12:119820692
|
T | G | 22 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0002g0139others(19): Show | 22 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(19): Show |
intron_variant | MODIFIER | c.1111+2128A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820692 | ||||||
| chr12:119820715
|
A | C | 8 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(5): Show | 8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1111+2105T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820715 | ||||||
| chr12:119820774
|
C | G | 1 | a0001c0002t0013g0048 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1111+2046G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820774 | ||||||
| chr12:119820893
|
A | G | 1 | a0001c0001t0001g0131 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.1111+1927T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820893 | ||||||
| chr12:119821062
|
G | A | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1111+1758C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119821062 | ||||||
| chr12:119821115
|
G | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+1705C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119821115 | ||||||
| chr12:119821122
|
CCT | C | 163 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(160): Show | 163 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(160): Show |
intron_variant | MODIFIER | c.1111+1696_1111+169 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119821122 | ||||||
| chr12:119821489
|
T | C | 1 | a0001c0005t0010g0217 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1111+1331A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119821489 | ||||||
| chr12:119821674
|
T | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+1146A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119821674 | ||||||
| chr12:119821875
|
G | T | 142 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(139): Show | 142 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(139): Show |
intron_variant | MODIFIER | c.1111+945C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119821875 | ||||||
| chr12:119822120
|
G | A | 4 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0013t0003g0025others(1): Show | 4 | HG01243.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1111+700C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119822120 | ||||||
| chr12:119822144
|
T | C | 1 | a0006c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1111+676A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119822144 | ||||||
| chr12:119823061
|
C | T | 8 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(5): Show | 8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.958-88G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823061 | ||||||
| chr12:119823100
|
G | A | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.958-127C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823100 | ||||||
| chr12:119823188
|
C | T | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.958-215G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823188 | ||||||
| chr12:119823237
|
A | G | 206 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(203): Show | 206 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(203): Show |
intron_variant | MODIFIER | c.958-264T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823237 | ||||||
| chr12:119823329
|
C | A | 1 | a0001c0006t0012g0159 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.958-356G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823329 | ||||||
| chr12:119823665
|
T | G | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.958-692A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823665 | ||||||
| chr12:119823690
|
G | A | 1 | a0001c0003t0003g0209 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.958-717C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823690 | ||||||
| chr12:119823748
|
G | A | 1 | a0001c0005t0010g0221 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.958-775C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823748 | ||||||
| chr12:119823751
|
C | T | 2 | a0001c0003t0003g0192a0001c0003t0003g0198 | 2 | HG03209.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.958-778G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823751 | ||||||
| chr12:119823849
|
A | G | 1 | a0001c0001t0001g0140 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.958-876T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823849 | ||||||
| chr12:119823907
|
G | A | 8 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(5): Show | 8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.958-934C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823907 | ||||||
| chr12:119824038
|
C | CA | 41 | a0001c0001t0001g0117a0001c0001t0001g0126a0001c0001t0001g0172others(38): Show | 41 | HG00733.hp1 HG00735.hp2 HG01069.hp2 others(38): Show |
intron_variant | MODIFIER | c.958-1066dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824038 | ||||||
| chr12:119824038
|
C | CAA | 130 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(127): Show | 130 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(127): Show |
intron_variant | MODIFIER | c.958-1067_958-1066d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824038 | ||||||
| chr12:119824038
|
C | CAAA | 30 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0016others(27): Show | 30 | HG01515.hp1 HG01934.hp2 HG02027.hp2 others(27): Show |
intron_variant | MODIFIER | c.958-1068_958-1066d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824038 | ||||||
| chr12:119824108
|
G | GTA | 5 | a0001c0002t0002g0045a0001c0002t0002g0046a0001c0002t0002g0067others(2): Show | 5 | HG02165.hp1 HG03490.hp2 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.957+1055_957+1056d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | ||||||
| chr12:119824108
|
GTA | G | 25 | a0001c0001t0001g0195a0001c0001t0002g0095a0001c0001t0004g0104others(22): Show | 25 | HG00597.hp2 HG01257.hp2 HG01258.hp2 others(22): Show |
intron_variant | MODIFIER | c.957+1055_957+1056d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | ||||||
| chr12:119824108
|
GTATA | G | 20 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0181others(17): Show | 20 | HG00408.hp1 HG00738.hp2 HG00741.hp1 others(17): Show |
intron_variant | MODIFIER | c.957+1053_957+1056d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | ||||||
| chr12:119824108
|
GTATATA | G | 27 | a0001c0001t0001g0010a0001c0001t0001g0172a0001c0001t0004g0160others(24): Show | 27 | HG01081.hp2 HG01106.hp1 HG01109.hp2 others(24): Show |
intron_variant | MODIFIER | c.957+1051_957+1056d others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | ||||||
| chr12:119824108
|
GTATATAT others(1): Show |
G | 18 | a0001c0001t0001g0047a0001c0001t0002g0188a0001c0001t0004g0161others(15): Show | 18 | HG00280.hp2 HG02015.hp2 HG02027.hp1 others(15): Show |
intron_variant | MODIFIER | c.957+1049_957+1056d others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | ||||||
| chr12:119824108
|
GTATATAT others(3): Show |
G | 34 | a0001c0001t0001g0034a0001c0001t0001g0100a0001c0001t0001g0123others(31): Show | 34 | HG00597.hp1 HG00735.hp1 HG00741.hp2 others(31): Show |
intron_variant | MODIFIER | c.957+1047_957+1056d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | ||||||
| chr12:119824108
|
GTATATAT others(5): Show |
G | 65 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0049others(62): Show | 65 | HG00408.hp2 HG00733.hp2 HG01106.hp2 others(62): Show |
intron_variant | MODIFIER | c.957+1045_957+1056d others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | ||||||
| chr12:119824108
|
GTATATAT others(7): Show |
G | 12 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(9): Show | 12 | HG02559.hp1 HG02622.hp2 HG02647.hp2 others(9): Show |
intron_variant | MODIFIER | c.957+1043_957+1056d others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | ||||||
| chr12:119824108
|
GTATATAT others(9): Show |
G | 18 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(15): Show | 18 | HG00733.hp1 HG02258.hp1 HG02280.hp2 others(15): Show |
intron_variant | MODIFIER | c.957+1041_957+1056d others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | ||||||
| chr12:119824142
|
A | G | 1 | a0001c0003t0003g0150 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.957+1023T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824142 | ||||||
| chr12:119824397
|
C | G | 1 | a0001c0009t0009g0036 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.957+768G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824397 | ||||||
| chr12:119824506
|
G | A | 2 | a0001c0006t0027g0234a0010c0032t0001g0028 | 2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.957+659C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824506 | ||||||
| chr12:119824601
|
A | T | 1 | a0001c0001t0004g0204 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.957+564T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824601 | ||||||
| chr12:119824614
|
C | A | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.957+551G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824614 | ||||||
| chr12:119824803
|
G | C | 1 | a0001c0003t0005g0186 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.957+362C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824803 | ||||||
| chr12:119824885
|
G | A | 1 | a0001c0001t0003g0111 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.957+280C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824885 | ||||||
| chr12:119824891
|
C | T | 57 | a0001c0001t0001g0010a0001c0001t0001g0117a0001c0001t0001g0118others(54): Show | 57 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(54): Show |
intron_variant | MODIFIER | c.957+274G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824891 | ||||||
| chr12:119824919
|
C | T | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.957+246G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824919 | ||||||
| chr12:119825482
|
G | C | 2 | a0001c0001t0001g0126a0001c0001t0002g0127 | 2 | HG02165.hp2 NA18998.hp1 |
intron_variant | MODIFIER | c.754-114C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119825482 | ||||||
| chr12:119825540
|
TA | T | 147 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(144): Show | 147 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(144): Show |
intron_variant | MODIFIER | c.754-173delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119825540 | ||||||
| chr12:119825672
|
C | CTAATACA others(6): Show |
1 | a0001c0003t0003g0184 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.754-317_754-305dup others(13): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119825672 | ||||||
| chr12:119825847
|
C | A | 1 | a0001c0026t0002g0155 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.754-479G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119825847 | ||||||
| chr12:119825852
|
G | C | 51 | a0001c0001t0001g0034a0001c0001t0001g0172a0001c0001t0001g0174others(48): Show | 51 | HG00733.hp1 HG01168.hp1 HG01169.hp2 others(48): Show |
intron_variant | MODIFIER | c.754-484C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119825852 | ||||||
| chr12:119825929
|
G | A | 17 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(14): Show | 17 | HG02258.hp1 HG02280.hp2 HG02622.hp1 others(14): Show |
intron_variant | MODIFIER | c.754-561C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119825929 | ||||||
| chr12:119825938
|
C | G | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.754-570G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119825938 | ||||||
| chr12:119826283
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.754-915C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826283 | ||||||
| chr12:119826283
|
G | T | 1 | a0001c0001t0002g0139 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.754-915C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826283 | ||||||
| chr12:119826292
|
C | T | 3 | a0001c0002t0001g0070a0001c0002t0002g0083a0001c0002t0002g0092 | 3 | NA18998.hp2 NA19002.hp1 NA19012.hp2 |
intron_variant | MODIFIER | c.754-924G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826292 | ||||||
| chr12:119826479
|
G | C | 9 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(6): Show | 9 | HG01168.hp1 HG01169.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.754-1111C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826479 | ||||||
| chr12:119826485
|
A | T | 1 | a0001c0035t0003g0007 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.754-1117T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826485 | ||||||
| chr12:119826537
|
A | G | 153 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(150): Show | 153 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(150): Show |
intron_variant | MODIFIER | c.754-1169T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826537 | ||||||
| chr12:119826585
|
G | A | 1 | a0001c0001t0001g0180 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.754-1217C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826585 | ||||||
| chr12:119826689
|
A | G | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.754-1321T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826689 | ||||||
| chr12:119826797
|
A | G | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.754-1429T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826797 | ||||||
| chr12:119826815
|
G | C | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.754-1447C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826815 | ||||||
| chr12:119826880
|
G | A | 24 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0002g0139others(21): Show | 24 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(21): Show |
intron_variant | MODIFIER | c.754-1512C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826880 | ||||||
| chr12:119826943
|
C | A | 1 | a0001c0001t0001g0018 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.754-1575G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826943 | ||||||
| chr12:119827222
|
G | C | 1 | a0001c0001t0001g0179 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.754-1854C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119827222 | ||||||
| chr12:119827357
|
T | C | 26 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0002g0139others(23): Show | 26 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(23): Show |
intron_variant | MODIFIER | c.754-1989A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119827357 | ||||||
| chr12:119827379
|
C | T | 1 | a0001c0001t0002g0144 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.754-2011G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119827379 | ||||||
| chr12:119827383
|
G | A | 1 | a0001c0003t0003g0031 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.754-2015C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119827383 | ||||||
| chr12:119827442
|
A | AT | 204 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(201): Show | 204 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(201): Show |
intron_variant | MODIFIER | c.754-2075dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119827442 | ||||||
| chr12:119827596
|
C | T | 1 | a0001c0001t0004g0164 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.754-2228G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119827596 | ||||||
| chr12:119827635
|
A | G | 1 | a0001c0001t0001g0138 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.754-2267T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119827635 | ||||||
| chr12:119827947
|
C | G | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.754-2579G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119827947 | ||||||
| chr12:119828326
|
A | G | 206 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(203): Show | 206 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(203): Show |
intron_variant | MODIFIER | c.754-2958T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828326 | ||||||
| chr12:119828346
|
ACTG | A | 2 | a0001c0001t0004g0146a0001c0001t0004g0194 | 2 | HG01928.hp1 HG01934.hp1 |
intron_variant | MODIFIER | c.754-2981_754-2979d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828346 | ||||||
| chr12:119828357
|
C | A | 1 | a0007c0022t0002g0082 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.754-2989G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828357 | ||||||
| chr12:119828448
|
C | T | 8 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(5): Show | 8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.754-3080G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828448 | ||||||
| chr12:119828571
|
A | ATT | 17 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(14): Show | 17 | HG02258.hp1 HG02280.hp2 HG02622.hp1 others(14): Show |
intron_variant | MODIFIER | c.754-3205_754-3204d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828571 | ||||||
| chr12:119828624
|
G | A | 2 | a0001c0001t0001g0015a0001c0001t0001g0016 | 2 | HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.754-3256C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828624 | ||||||
| chr12:119828662
|
A | G | 1 | a0001c0001t0001g0200 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.754-3294T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828662 | ||||||
| chr12:119828815
|
G | A | 11 | a0001c0011t0009g0191a0001c0013t0005g0029a0002c0004t0007g0050others(8): Show | 11 | HG01106.hp2 HG02258.hp1 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.754-3447C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828815 | ||||||
| chr12:119828892
|
A | T | 2 | a0001c0001t0001g0143a0001c0001t0004g0151 | 2 | NA18983.hp1 NA18993.hp1 |
intron_variant | MODIFIER | c.754-3524T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828892 | ||||||
| chr12:119828968
|
G | C | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.754-3600C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828968 | ||||||
| chr12:119828990
|
AAAGG | A | 136 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(133): Show | 136 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(133): Show |
intron_variant | MODIFIER | c.754-3626_754-3623d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828990 | ||||||
| chr12:119829242
|
G | GCAGGAGA others(3615): Show |
1 | a0001c0026t0002g0155 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.753+3528_753+3529i others(3624): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829242 | ||||||
| chr12:119829339
|
A | AAGAAGAG others(13): Show |
1 | a0001c0003t0003g0040 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.753+3431_753+3432i others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829339 | ||||||
| chr12:119829339
|
A | AAGAGAAG others(5): Show |
1 | a0001c0003t0003g0184 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.753+3431_753+3432i others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829339 | ||||||
| chr12:119829344
|
A | AAGAAG | 20 | a0001c0001t0001g0010a0001c0001t0005g0020a0001c0002t0001g0058others(17): Show | 20 | HG00733.hp1 HG01109.hp1 HG01109.hp2 others(17): Show |
intron_variant | MODIFIER | c.753+3422_753+3426d others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | ||||||
| chr12:119829344
|
A | AAGAAGAG others(3): Show |
22 | a0001c0001t0001g0181a0001c0001t0004g0104a0001c0002t0001g0093others(19): Show | 22 | HG00408.hp1 HG00597.hp2 HG01081.hp2 others(19): Show |
intron_variant | MODIFIER | c.753+3417_753+3426d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | ||||||
| chr12:119829344
|
A | AAGAAGAG others(8): Show |
20 | a0001c0001t0026g0233a0001c0002t0001g0070a0001c0002t0002g0074others(17): Show | 20 | HG00735.hp2 HG00741.hp1 HG01515.hp1 others(17): Show |
intron_variant | MODIFIER | c.753+3412_753+3426d others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | ||||||
| chr12:119829344
|
A | AAGAAGAG others(13): Show |
20 | a0001c0001t0002g0188a0001c0001t0004g0157a0001c0002t0002g0065others(17): Show | 20 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.753+3407_753+3426d others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | ||||||
| chr12:119829344
|
A | AAGAAGAG others(18): Show |
15 | a0001c0001t0002g0095a0001c0002t0002g0045a0001c0002t0002g0046others(12): Show | 15 | HG01069.hp1 HG01243.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.753+3402_753+3426d others(27): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | ||||||
| chr12:119829344
|
A | AAGAAGAG others(23): Show |
3 | a0001c0008t0001g0210a0001c0009t0009g0036a0002c0004t0007g0033 | 3 | HG02280.hp1 HG02809.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.753+3397_753+3426d others(32): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | ||||||
| chr12:119829344
|
A | AAGAAGAG others(28): Show |
2 | a0001c0002t0002g0099a0001c0007t0005g0030 | 2 | HG03041.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.753+3392_753+3426d others(37): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | ||||||
| chr12:119829344
|
A | AAGAAGAG others(33): Show |
3 | a0001c0001t0001g0034a0004c0018t0006g0005a0004c0018t0006g0006 | 3 | HG02896.hp1 HG02897.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.753+3387_753+3426d others(42): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | ||||||
| chr12:119829344
|
A | G | 2 | a0001c0003t0003g0040a0001c0003t0003g0184 | 2 | HG03225.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.753+3427T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | ||||||
| chr12:119829344
|
AAGAAG | A | 29 | a0001c0001t0001g0047a0001c0001t0001g0108a0001c0001t0001g0131others(26): Show | 29 | HG00280.hp2 HG00408.hp2 HG01243.hp2 others(26): Show |
intron_variant | MODIFIER | c.753+3422_753+3426d others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | ||||||
| chr12:119829344
|
AAGAAGAG others(3): Show |
A | 31 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0015others(28): Show | 31 | HG00738.hp2 HG01069.hp2 HG01106.hp2 others(28): Show |
intron_variant | MODIFIER | c.753+3417_753+3426d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | ||||||
| chr12:119829344
|
AAGAAGAG others(8): Show |
A | 42 | a0001c0001t0001g0016a0001c0001t0001g0049a0001c0001t0001g0100others(39): Show | 42 | HG00597.hp1 HG00733.hp2 HG00735.hp1 others(39): Show |
intron_variant | MODIFIER | c.753+3412_753+3426d others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | ||||||
| chr12:119829344
|
AAGAAGAG others(13): Show |
A | 4 | a0001c0001t0001g0008a0001c0001t0001g0180a0001c0001t0001g0224others(1): Show | 4 | HG01168.hp2 HG01934.hp2 HG02523.hp2 others(1): Show |
intron_variant | MODIFIER | c.753+3407_753+3426d others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | ||||||
| chr12:119829402
|
A | C | 24 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0002g0139others(21): Show | 24 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(21): Show |
intron_variant | MODIFIER | c.753+3369T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829402 | ||||||
| chr12:119829487
|
A | G | 153 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(150): Show | 153 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(150): Show |
intron_variant | MODIFIER | c.753+3284T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829487 | ||||||
| chr12:119829507
|
C | T | 1 | a0001c0001t0004g0169 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.753+3264G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829507 | ||||||
| chr12:119829564
|
C | T | 24 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0002g0139others(21): Show | 24 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(21): Show |
intron_variant | MODIFIER | c.753+3207G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829564 | ||||||
| chr12:119829669
|
G | A | 8 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(5): Show | 8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.753+3102C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829669 | ||||||
| chr12:119829887
|
A | C | 153 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(150): Show | 153 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(150): Show |
intron_variant | MODIFIER | c.753+2884T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829887 | ||||||
| chr12:119830317
|
C | A | 1 | a0001c0001t0008g0135 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.753+2454G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119830317 | ||||||
| chr12:119830412
|
G | C | 1 | a0001c0003t0005g0186 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.753+2359C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119830412 | ||||||
| chr12:119830593
|
T | G | 1 | a0001c0001t0003g0111 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.753+2178A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119830593 | ||||||
| chr12:119830606
|
AC | A | 82 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(79): Show | 82 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.753+2164delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119830606 | ||||||
| chr12:119830688
|
G | A | 9 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(6): Show | 9 | HG01168.hp1 HG01169.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.753+2083C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119830688 | ||||||
| chr12:119830874
|
A | C | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.753+1897T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119830874 | ||||||
| chr12:119830915
|
G | A | 9 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(6): Show | 9 | HG01168.hp1 HG01169.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.753+1856C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119830915 | ||||||
| chr12:119830977
|
T | C | 1 | a0001c0003t0003g0040 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.753+1794A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119830977 | ||||||
| chr12:119831010
|
C | A | 1 | a0001c0002t0002g0222 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.753+1761G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119831010 | ||||||
| chr12:119831154
|
G | A | 54 | a0001c0001t0001g0010a0001c0001t0002g0095a0001c0001t0004g0104others(51): Show | 54 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(51): Show |
intron_variant | MODIFIER | c.753+1617C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119831154 | ||||||
| chr12:119831155
|
G | A | 17 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(14): Show | 17 | HG02258.hp1 HG02280.hp2 HG02622.hp1 others(14): Show |
intron_variant | MODIFIER | c.753+1616C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119831155 | ||||||
| chr12:119831361
|
C | G | 1 | a0001c0003t0003g0040 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.753+1410G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119831361 | ||||||
| chr12:119831864
|
C | T | 2 | a0001c0003t0017g0060a0002c0016t0001g0061 | 2 | HG02451.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.753+907G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119831864 | ||||||
| chr12:119831897
|
T | A | 1 | a0001c0001t0004g0161 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.753+874A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119831897 | ||||||
| chr12:119832125
|
C | T | 3 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212 | 3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.753+646G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119832125 | ||||||
| chr12:119832319
|
G | T | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.753+452C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119832319 | ||||||
| chr12:119832356
|
T | C | 1 | a0001c0003t0003g0031 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.753+415A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119832356 | ||||||
| chr12:119832724
|
T | C | 152 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(149): Show | 152 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(149): Show |
intron_variant | MODIFIER | c.753+47A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119832724 | ||||||
| chr12:119833070
|
G | A | 1 | a0001c0001t0001g0202 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.660-206C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833070 | ||||||
| chr12:119833180
|
T | C | 1 | a0007c0022t0002g0082 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.660-316A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833180 | ||||||
| chr12:119833296
|
T | A | 150 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(147): Show | 150 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(147): Show |
intron_variant | MODIFIER | c.660-432A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833296 | ||||||
| chr12:119833519
|
G | T | 1 | a0001c0001t0004g0157 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.659+567C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833519 | ||||||
| chr12:119833530
|
C | G | 1 | a0001c0001t0004g0157 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.659+556G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833530 | ||||||
| chr12:119833531
|
G | C | 1 | a0001c0001t0004g0157 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.659+555C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833531 | ||||||
| chr12:119833533
|
T | C | 25 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(22): Show | 25 | HG00597.hp1 HG01928.hp1 HG01934.hp1 others(22): Show |
intron_variant | MODIFIER | c.659+553A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833533 | ||||||
| chr12:119833560
|
G | C | 17 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(14): Show | 17 | HG02258.hp1 HG02280.hp2 HG02622.hp1 others(14): Show |
intron_variant | MODIFIER | c.659+526C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833560 | ||||||
| chr12:119833592
|
C | G | 195 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(192): Show | 195 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(192): Show |
intron_variant | MODIFIER | c.659+494G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833592 | ||||||
| chr12:119833663
|
C | CA | 20 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0002g0139others(17): Show | 20 | HG00597.hp1 HG02027.hp1 HG02083.hp2 others(17): Show |
intron_variant | MODIFIER | c.659+422dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833663 | ||||||
| chr12:119833663
|
C | CAAA | 11 | a0001c0001t0004g0146a0002c0004t0003g0044a0002c0004t0007g0050others(8): Show | 11 | HG01928.hp1 HG02258.hp1 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.659+420_659+422dup others(3): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833663 | ||||||
| chr12:119833663
|
CA | C | 89 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0015others(86): Show | 89 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(86): Show |
intron_variant | MODIFIER | c.659+422delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833663 | ||||||
| chr12:119833663
|
CAA | C | 48 | a0001c0001t0001g0010a0001c0001t0001g0121a0001c0001t0002g0095others(45): Show | 48 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(45): Show |
intron_variant | MODIFIER | c.659+421_659+422del others(2): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833663 | ||||||
| chr12:119833663
|
CAAA | C | 5 | a0001c0002t0002g0156a0001c0003t0017g0060a0003c0019t0003g0002others(2): Show | 5 | HG00733.hp1 HG01515.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.659+420_659+422del others(3): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833663 | ||||||
| chr12:119833678
|
A | G | 1 | a0001c0014t0001g0154 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.659+408T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833678 | ||||||
| chr12:119833788
|
A | G | 1 | a0001c0001t0006g0119 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.659+298T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833788 | ||||||
| chr12:119833807
|
T | C | 153 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(150): Show | 153 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(150): Show |
intron_variant | MODIFIER | c.659+279A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833807 | ||||||
| chr12:119833890
|
GC | G | 2 | a0004c0018t0006g0005a0004c0018t0006g0006 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.659+195delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833890 | ||||||
| chr12:119833986
|
T | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.659+100A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833986 | ||||||
| chr12:119834926
|
C | G | 17 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(14): Show | 17 | HG02258.hp1 HG02280.hp2 HG02622.hp1 others(14): Show |
intron_variant | MODIFIER | c.517-698G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119834926 | ||||||
| chr12:119835003
|
G | C | 17 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(14): Show | 17 | HG02258.hp1 HG02280.hp2 HG02622.hp1 others(14): Show |
intron_variant | MODIFIER | c.517-775C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119835003 | ||||||
| chr12:119835027
|
C | T | 29 | a0001c0001t0001g0034a0001c0001t0005g0020a0001c0003t0003g0037others(26): Show | 29 | HG00733.hp1 HG01168.hp1 HG01169.hp2 others(26): Show |
intron_variant | MODIFIER | c.517-799G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119835027 | ||||||
| chr12:119835068
|
A | G | 1 | a0001c0001t0001g0230 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.517-840T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119835068 | ||||||
| chr12:119835321
|
T | C | 3 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0013t0003g0025 | 3 | HG03130.hp2 HG03516.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.517-1093A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119835321 | ||||||
| chr12:119835440
|
G | A | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.517-1212C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119835440 | ||||||
| chr12:119836202
|
A | G | 29 | a0001c0001t0001g0034a0001c0001t0005g0020a0001c0003t0003g0037others(26): Show | 29 | HG00733.hp1 HG01168.hp1 HG01169.hp2 others(26): Show |
intron_variant | MODIFIER | c.517-1974T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836202 | ||||||
| chr12:119836211
|
C | T | 1 | a0001c0023t0004g0059 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.517-1983G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836211 | ||||||
| chr12:119836244
|
A | G | 62 | a0001c0001t0001g0034a0001c0001t0001g0100a0001c0001t0001g0172others(59): Show | 62 | HG00597.hp1 HG00733.hp1 HG01109.hp1 others(59): Show |
intron_variant | MODIFIER | c.517-2016T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836244 | ||||||
| chr12:119836273
|
G | C | 3 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0008g0135 | 3 | HG00738.hp2 HG01069.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.517-2045C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836273 | ||||||
| chr12:119836274
|
A | C | 1 | a0001c0001t0001g0225 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.517-2046T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836274 | ||||||
| chr12:119836277
|
C | T | 1 | a0001c0001t0003g0111 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.517-2049G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836277 | ||||||
| chr12:119836284
|
T | TA | 38 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(35): Show | 38 | HG00741.hp2 HG01106.hp1 HG01106.hp2 others(35): Show |
intron_variant | MODIFIER | c.517-2057dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | ||||||
| chr12:119836284
|
T | TAA | 41 | a0001c0001t0001g0034a0001c0001t0001g0230a0001c0001t0002g0095others(38): Show | 41 | HG00408.hp1 HG00597.hp2 HG01167.hp2 others(38): Show |
intron_variant | MODIFIER | c.517-2058_517-2057d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | ||||||
| chr12:119836284
|
T | TAAA | 16 | a0001c0002t0001g0070a0001c0002t0002g0076a0001c0002t0002g0078others(13): Show | 16 | HG02056.hp1 HG02071.hp1 HG02630.hp1 others(13): Show |
intron_variant | MODIFIER | c.517-2059_517-2057d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | ||||||
| chr12:119836284
|
T | TAAAA | 8 | a0001c0002t0001g0058a0001c0002t0013g0048a0001c0002t0013g0071others(5): Show | 8 | HG00738.hp1 HG00741.hp1 HG01109.hp1 others(5): Show |
intron_variant | MODIFIER | c.517-2060_517-2057d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | ||||||
| chr12:119836284
|
T | TAAAAAA | 6 | a0002c0004t0007g0050a0002c0004t0007g0052a0002c0004t0007g0053others(3): Show | 6 | HG02258.hp1 HG02280.hp2 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.517-2062_517-2057d others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | ||||||
| chr12:119836284
|
T | TAAAAAAA | 5 | a0001c0013t0005g0029a0001c0015t0006g0004a0002c0004t0003g0044others(2): Show | 5 | HG02622.hp1 HG02809.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.517-2063_517-2057d others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | ||||||
| chr12:119836284
|
T | TAAAAAAA others(3): Show |
1 | a0001c0001t0005g0020 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.517-2066_517-2057d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | ||||||
| chr12:119836284
|
T | TAAAAAAA others(11): Show |
3 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0022g0041 | 3 | HG02895.hp1 HG02897.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.517-2074_517-2057d others(20): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | ||||||
| chr12:119836284
|
T | TAAAAAAA others(12): Show |
1 | a0001c0007t0005g0220 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.517-2075_517-2057d others(21): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | ||||||
| chr12:119836284
|
T | TAAAAAAA others(18): Show |
1 | a0001c0005t0010g0217 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.517-2081_517-2057d others(27): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | ||||||
| chr12:119836284
|
T | TAAAAAAA others(23): Show |
1 | a0001c0007t0005g0218 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.517-2086_517-2057d others(32): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | ||||||
| chr12:119836284
|
TA | T | 5 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212others(2): Show | 5 | HG02109.hp2 HG02280.hp1 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.517-2057delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | ||||||
| chr12:119836284
|
TAAAAAAA others(15): Show |
T | 23 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(20): Show | 23 | HG00597.hp1 HG01928.hp1 HG01934.hp1 others(20): Show |
intron_variant | MODIFIER | c.517-2078_517-2057d others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | ||||||
| chr12:119836519
|
T | C | 55 | a0001c0001t0001g0010a0001c0001t0002g0095a0001c0001t0004g0104others(52): Show | 55 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(52): Show |
intron_variant | MODIFIER | c.517-2291A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836519 | ||||||
| chr12:119836539
|
C | T | 1 | a0001c0006t0001g0148 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.517-2311G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836539 | ||||||
| chr12:119836764
|
C | G | 3 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0008g0135 | 3 | HG00738.hp2 HG01069.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.517-2536G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836764 | ||||||
| chr12:119837003
|
T | C | 1 | a0001c0001t0001g0199 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.517-2775A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119837003 | ||||||
| chr12:119837276
|
T | C | 25 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(22): Show | 25 | HG00597.hp1 HG01928.hp1 HG01934.hp1 others(22): Show |
intron_variant | MODIFIER | c.517-3048A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119837276 | ||||||
| chr12:119837424
|
T | C | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.517-3196A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119837424 | ||||||
| chr12:119838197
|
G | A | 1 | a0001c0001t0002g0188 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.517-3969C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119838197 | ||||||
| chr12:119838216
|
G | T | 168 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(165): Show | 168 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(165): Show |
intron_variant | MODIFIER | c.517-3988C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119838216 | ||||||
| chr12:119838262
|
A | G | 189 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(186): Show | 189 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(186): Show |
intron_variant | MODIFIER | c.517-4034T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119838262 | ||||||
| chr12:119838394
|
G | T | 175 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(172): Show | 175 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(172): Show |
intron_variant | MODIFIER | c.517-4166C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119838394 | ||||||
| chr12:119838536
|
C | T | 3 | a0001c0008t0001g0210a0001c0008t0001g0211a0001c0008t0001g0212 | 3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.517-4308G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119838536 | ||||||
| chr12:119838669
|
TTCATATA others(22): Show |
T | 1 | a0001c0001t0002g0141 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.517-4470_517-4442d others(31): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119838669 | ||||||
| chr12:119838993
|
C | T | 1 | a0001c0001t0002g0144 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.517-4765G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119838993 | ||||||
| chr12:119839369
|
T | C | 1 | a0002c0004t0007g0050 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.517-5141A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119839369 | ||||||
| chr12:119839435
|
C | A | 1 | a0001c0003t0003g0193 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.517-5207G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119839435 | ||||||
| chr12:119839618
|
C | G | 3 | a0001c0007t0005g0030a0001c0007t0005g0062a0001c0007t0005g0228 | 3 | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.517-5390G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119839618 | ||||||
| chr12:119839745
|
G | A | 9 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0017others(6): Show | 9 | HG02257.hp2 HG02559.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.517-5517C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119839745 | ||||||
| chr12:119839794
|
A | G | 1 | a0002c0004t0007g0033 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.517-5566T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119839794 | ||||||
| chr12:119839918
|
G | T | 1 | a0001c0001t0004g0164 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.517-5690C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119839918 | ||||||
| chr12:119840437
|
T | C | 84 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(81): Show | 84 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(81): Show |
intron_variant | MODIFIER | c.517-6209A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119840437 | ||||||
| chr12:119840528
|
C | T | 103 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(100): Show | 103 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(100): Show |
intron_variant | MODIFIER | c.517-6300G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119840528 | ||||||
| chr12:119840571
|
T | C | 4 | a0001c0001t0004g0160a0001c0001t0004g0168a0001c0001t0023g0214others(1): Show | 4 | NA18966.hp2 NA18969.hp2 NA18997.hp2 others(1): Show |
intron_variant | MODIFIER | c.517-6343A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119840571 | ||||||
| chr12:119841347
|
A | G | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.517-7119T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119841347 | ||||||
| chr12:119841445
|
A | T | 2 | a0001c0007t0005g0030a0001c0007t0005g0062 | 2 | HG02970.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.517-7217T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119841445 | ||||||
| chr12:119841465
|
G | A | 2 | a0001c0005t0010g0042a0001c0005t0022g0041 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.517-7237C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119841465 | ||||||
| chr12:119842089
|
A | C | 1 | a0001c0002t0002g0072 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.517-7861T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842089 | ||||||
| chr12:119842104
|
A | G | 1 | a0001c0001t0001g0223 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.517-7876T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842104 | ||||||
| chr12:119842272
|
C | A | 1 | a0001c0006t0001g0132 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.516+7902G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842272 | ||||||
| chr12:119842388
|
C | CA | 72 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(69): Show | 72 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(69): Show |
intron_variant | MODIFIER | c.516+7785dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842388 | ||||||
| chr12:119842388
|
C | CAA | 33 | a0001c0001t0001g0049a0001c0001t0001g0100a0001c0001t0001g0109others(30): Show | 33 | HG00597.hp1 HG00735.hp1 HG01106.hp1 others(30): Show |
intron_variant | MODIFIER | c.516+7784_516+7785d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842388 | ||||||
| chr12:119842388
|
CA | C | 53 | a0001c0001t0001g0175a0001c0001t0001g0181a0001c0001t0002g0095others(50): Show | 53 | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(50): Show |
intron_variant | MODIFIER | c.516+7785delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842388 | ||||||
| chr12:119842388
|
CAA | C | 5 | a0001c0002t0002g0067a0001c0002t0018g0068a0001c0003t0017g0060others(2): Show | 5 | HG02165.hp1 HG02451.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.516+7784_516+7785d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842388 | ||||||
| chr12:119842388
|
CAAAAAAA others(1): Show |
C | 7 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(4): Show | 7 | HG02717.hp2 HG02922.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.516+7778_516+7785d others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842388 | ||||||
| chr12:119842738
|
A | G | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.516+7436T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842738 | ||||||
| chr12:119842848
|
T | C | 58 | a0001c0001t0002g0095a0001c0001t0004g0104a0001c0001t0004g0146others(55): Show | 58 | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(55): Show |
intron_variant | MODIFIER | c.516+7326A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842848 | ||||||
| chr12:119843186
|
T | C | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.516+6988A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119843186 | ||||||
| chr12:119843472
|
T | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.516+6702A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119843472 | ||||||
| chr12:119843876
|
G | A | 2 | a0001c0003t0017g0060a0002c0016t0001g0061 | 2 | HG02451.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.516+6298C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119843876 | ||||||
| chr12:119843936
|
A | C | 9 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(6): Show | 9 | HG02717.hp1 HG02717.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.516+6238T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119843936 | ||||||
| chr12:119844099
|
G | A | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.516+6075C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844099 | ||||||
| chr12:119844178
|
T | A | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.516+5996A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844178 | ||||||
| chr12:119844180
|
C | T | 2 | a0001c0005t0010g0042a0001c0005t0022g0041 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.516+5994G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844180 | ||||||
| chr12:119844269
|
G | A | 7 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(4): Show | 7 | HG02717.hp2 HG02922.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.516+5905C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844269 | ||||||
| chr12:119844274
|
G | A | 7 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(4): Show | 7 | HG02717.hp2 HG02922.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.516+5900C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844274 | ||||||
| chr12:119844311
|
C | T | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.516+5863G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844311 | ||||||
| chr12:119844543
|
G | A | 18 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(15): Show | 18 | HG00597.hp1 HG01934.hp1 HG02015.hp2 others(15): Show |
intron_variant | MODIFIER | c.516+5631C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844543 | ||||||
| chr12:119844727
|
A | G | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.516+5447T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844727 | ||||||
| chr12:119844896
|
G | A | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.516+5278C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844896 | ||||||
| chr12:119844917
|
G | A | 1 | a0001c0001t0004g0194 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.516+5257C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844917 | ||||||
| chr12:119845043
|
C | T | 2 | a0001c0007t0005g0030a0001c0007t0005g0062 | 2 | HG02970.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.516+5131G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845043 | ||||||
| chr12:119845106
|
C | T | 2 | a0001c0005t0008g0021a0010c0032t0001g0028 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.516+5068G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845106 | ||||||
| chr12:119845119
|
C | CA | 7 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(4): Show | 7 | HG02717.hp2 HG02922.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.516+5054dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845119 | ||||||
| chr12:119845427
|
C | T | 11 | a0001c0001t0001g0008a0001c0001t0005g0020a0001c0005t0008g0021others(8): Show | 11 | HG01934.hp2 HG02622.hp1 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.516+4747G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845427 | ||||||
| chr12:119845498
|
C | T | 3 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0008g0135 | 3 | HG00738.hp2 HG01069.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.516+4676G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845498 | ||||||
| chr12:119845530
|
G | A | 2 | a0001c0007t0005g0228a0001c0028t0003g0229 | 2 | HG06807.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.516+4644C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845530 | ||||||
| chr12:119845652
|
C | CA | 12 | a0001c0001t0001g0109a0001c0001t0001g0131a0001c0001t0001g0202others(9): Show | 12 | HG01243.hp2 HG02523.hp1 HG03130.hp1 others(9): Show |
intron_variant | MODIFIER | c.516+4521dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845652 | ||||||
| chr12:119845652
|
CA | C | 25 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(22): Show | 25 | HG00597.hp1 HG01934.hp1 HG02015.hp2 others(22): Show |
intron_variant | MODIFIER | c.516+4521delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845652 | ||||||
| chr12:119845728
|
G | A | 1 | a0001c0002t0002g0102 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.516+4446C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845728 | ||||||
| chr12:119845807
|
G | A | 85 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(82): Show | 85 | HG00280.hp2 HG00733.hp2 HG00735.hp1 others(82): Show |
intron_variant | MODIFIER | c.516+4367C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845807 | ||||||
| chr12:119845943
|
A | AAC | 88 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0015others(85): Show | 88 | HG00280.hp2 HG00597.hp1 HG00733.hp1 others(85): Show |
intron_variant | MODIFIER | c.516+4229_516+4230d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845943 | ||||||
| chr12:119845943
|
A | AACAC | 36 | a0001c0001t0001g0009a0001c0001t0001g0017a0001c0001t0001g0018others(33): Show | 36 | HG00733.hp2 HG00741.hp2 HG01106.hp1 others(33): Show |
intron_variant | MODIFIER | c.516+4227_516+4230d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845943 | ||||||
| chr12:119845943
|
A | AACACAC | 8 | a0001c0001t0001g0010a0001c0002t0013g0048a0001c0006t0012g0142others(5): Show | 8 | HG00738.hp1 HG02257.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.516+4225_516+4230d others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845943 | ||||||
| chr12:119845943
|
A | AACACACA others(1): Show |
10 | a0001c0002t0002g0096a0001c0002t0013g0071a0001c0028t0003g0229others(7): Show | 10 | HG00741.hp1 HG02056.hp1 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.516+4223_516+4230d others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845943 | ||||||
| chr12:119845943
|
A | AACACACA others(3): Show |
4 | a0001c0001t0005g0020a0001c0005t0008g0021a0002c0004t0011g0056others(1): Show | 4 | HG02809.hp1 HG02922.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.516+4221_516+4230d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845943 | ||||||
| chr12:119845943
|
AAC | A | 7 | a0001c0001t0001g0180a0001c0001t0001g0200a0001c0002t0002g0089others(4): Show | 7 | HG02523.hp1 HG02809.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.516+4229_516+4230d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845943 | ||||||
| chr12:119845943
|
AACAC | A | 3 | a0001c0003t0003g0192a0001c0003t0003g0198a0001c0005t0008g0022 | 3 | HG02717.hp2 HG03209.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.516+4227_516+4230d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845943 | ||||||
| chr12:119845943
|
AACACACA others(3): Show |
A | 1 | a0001c0006t0001g0132 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.516+4221_516+4230d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845943 | ||||||
| chr12:119845991
|
G | A | 4 | a0001c0001t0001g0001a0001c0001t0001g0133a0001c0001t0001g0138others(1): Show | 4 | NA18955.hp2 NA18981.hp2 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.516+4183C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845991 | ||||||
| chr12:119846037
|
C | T | 1 | a0001c0001t0026g0233 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.516+4137G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119846037 | ||||||
| chr12:119846636
|
A | G | 96 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(93): Show | 96 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(93): Show |
intron_variant | MODIFIER | c.516+3538T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119846636 | ||||||
| chr12:119846758
|
C | A | 205 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(202): Show | 205 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(202): Show |
intron_variant | MODIFIER | c.516+3416G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119846758 | ||||||
| chr12:119846987
|
CT | C | 83 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(80): Show | 83 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(80): Show |
intron_variant | MODIFIER | c.516+3186delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119846987 | ||||||
| chr12:119847088
|
C | T | 1 | a0001c0015t0006g0004 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.516+3086G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847088 | ||||||
| chr12:119847115
|
G | A | 3 | a0001c0035t0003g0007a0004c0018t0006g0005a0004c0018t0006g0006 | 3 | HG02896.hp1 HG02897.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.516+3059C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847115 | ||||||
| chr12:119847149
|
T | G | 1 | a0001c0002t0002g0066 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.516+3025A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847149 | ||||||
| chr12:119847212
|
C | A | 1 | a0001c0001t0001g0149 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.516+2962G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847212 | ||||||
| chr12:119847282
|
C | G | 1 | a0001c0001t0001g0181 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.516+2892G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847282 | ||||||
| chr12:119847331
|
C | T | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.516+2843G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847331 | ||||||
| chr12:119847457
|
G | A | 83 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(80): Show | 83 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(80): Show |
intron_variant | MODIFIER | c.516+2717C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847457 | ||||||
| chr12:119847712
|
G | A | 7 | a0001c0003t0003g0197a0001c0007t0005g0228a0001c0015t0006g0004others(4): Show | 7 | HG02717.hp1 HG03041.hp1 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.516+2462C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847712 | ||||||
| chr12:119847728
|
T | C | 2 | a0001c0001t0001g0147a0001c0001t0002g0141 | 2 | NA18959.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.516+2446A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847728 | ||||||
| chr12:119847853
|
T | C | 4 | a0001c0002t0014g0235a0001c0007t0005g0228a0001c0028t0003g0229others(1): Show | 4 | HG02976.hp2 HG03453.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.516+2321A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847853 | ||||||
| chr12:119847920
|
T | A | 14 | a0001c0005t0008g0215a0001c0005t0010g0216a0001c0005t0010g0217others(11): Show | 14 | HG01109.hp1 HG02257.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.516+2254A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847920 | ||||||
| chr12:119848388
|
C | T | 55 | a0001c0001t0002g0095a0001c0001t0004g0104a0001c0001t0004g0157others(52): Show | 55 | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(52): Show |
intron_variant | MODIFIER | c.516+1786G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119848388 | ||||||
| chr12:119848456
|
A | T | 9 | a0001c0003t0003g0037a0001c0003t0003g0040a0001c0005t0010g0042others(6): Show | 9 | HG01168.hp1 HG01169.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.516+1718T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119848456 | ||||||
| chr12:119848607
|
G | A | 7 | a0001c0005t0008g0215a0001c0005t0010g0216a0001c0005t0010g0217others(4): Show | 7 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.516+1567C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119848607 | ||||||
| chr12:119848693
|
T | C | 13 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(10): Show | 13 | HG01168.hp1 HG01169.hp2 HG02451.hp1 others(10): Show |
intron_variant | MODIFIER | c.516+1481A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119848693 | ||||||
| chr12:119848758
|
G | A | 1 | a0001c0001t0001g0172 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.516+1416C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119848758 | ||||||
| chr12:119848813
|
C | G | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.516+1361G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119848813 | ||||||
| chr12:119848851
|
C | A | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.516+1323G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119848851 | ||||||
| chr12:119849007
|
C | G | 2 | a0001c0002t0001g0058a0001c0005t0008g0085 | 2 | HG02896.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.516+1167G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119849007 | ||||||
| chr12:119849011
|
A | G | 25 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(22): Show | 25 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(22): Show |
intron_variant | MODIFIER | c.516+1163T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119849011 | ||||||
| chr12:119849140
|
G | A | 18 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(15): Show | 18 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(15): Show |
intron_variant | MODIFIER | c.516+1034C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119849140 | ||||||
| chr12:119849351
|
T | A | 27 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(24): Show | 27 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(24): Show |
intron_variant | MODIFIER | c.516+823A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119849351 | ||||||
| chr12:119849363
|
A | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.516+811T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119849363 | ||||||
| chr12:119849488
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.516+686C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119849488 | ||||||
| chr12:119849675
|
GTTTCTTT others(3): Show |
G | 55 | a0001c0001t0001g0001a0001c0001t0001g0047a0001c0001t0001g0097others(52): Show | 55 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(52): Show |
intron_variant | MODIFIER | c.516+489_516+498del others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119849675 | ||||||
| chr12:119850069
|
T | C | 1 | a0001c0001t0001g0134 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.516+105A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119850069 | ||||||
| chr12:119850375
|
T | TA | 86 | a0001c0001t0001g0001a0001c0001t0001g0047a0001c0001t0001g0049others(83): Show | 86 | HG00280.hp2 HG00408.hp2 HG00733.hp1 others(83): Show |
intron_variant | MODIFIER | c.415-101dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119850375 | ||||||
| chr12:119850375
|
T | TAA | 109 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(106): Show | 109 | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(106): Show |
intron_variant | MODIFIER | c.415-102_415-101dup others(2): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119850375 | ||||||
| chr12:119850375
|
T | TAAA | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.415-103_415-101dup others(3): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119850375 | ||||||
| chr12:119850389
|
G | A | 26 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(23): Show | 26 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(23): Show |
intron_variant | MODIFIER | c.415-114C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119850389 | ||||||
| chr12:119850445
|
GAAGGA | G | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.415-175_415-171del others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119850445 | ||||||
| chr12:119850452
|
AGGGAAGG others(4): Show |
A | 1 | a0001c0001t0001g0016 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.415-188_415-178del others(11): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119850452 | ||||||
| chr12:119850502
|
A | G | 1 | a0001c0002t0013g0048 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.415-227T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119850502 | ||||||
| chr12:119850589
|
T | C | 1 | a0001c0001t0004g0161 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.415-314A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119850589 | ||||||
| chr12:119851322
|
T | A | 1 | a0001c0008t0001g0212 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.415-1047A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119851322 | ||||||
| chr12:119851365
|
G | A | 1 | a0001c0001t0015g0094 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.415-1090C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119851365 | ||||||
| chr12:119851775
|
G | A | 1 | a0001c0001t0001g0153 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.415-1500C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119851775 | ||||||
| chr12:119851809
|
G | A | 67 | a0001c0001t0001g0034a0001c0001t0002g0095a0001c0001t0004g0104others(64): Show | 67 | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(64): Show |
intron_variant | MODIFIER | c.415-1534C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119851809 | ||||||
| chr12:119852230
|
C | T | 1 | a0001c0001t0001g0201 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.415-1955G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119852230 | ||||||
| chr12:119852539
|
C | G | 2 | a0001c0001t0001g0175a0008c0033t0006g0176 | 2 | HG00733.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.415-2264G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119852539 | ||||||
| chr12:119852603
|
G | A | 2 | a0001c0007t0005g0228a0001c0028t0003g0229 | 2 | HG06807.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.415-2328C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119852603 | ||||||
| chr12:119852700
|
C | CA | 26 | a0001c0001t0001g0100a0001c0001t0001g0114a0001c0001t0001g0172others(23): Show | 26 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(23): Show |
intron_variant | MODIFIER | c.415-2426dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119852700 | ||||||
| chr12:119852866
|
G | A | 1 | a0001c0003t0003g0184 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.415-2591C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119852866 | ||||||
| chr12:119852914
|
T | C | 83 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(80): Show | 83 | HG00597.hp1 HG01109.hp1 HG01168.hp1 others(80): Show |
intron_variant | MODIFIER | c.415-2639A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119852914 | ||||||
| chr12:119853204
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.415-2929C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853204 | ||||||
| chr12:119853205
|
TAATC | T | 26 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(23): Show | 26 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(23): Show |
intron_variant | MODIFIER | c.415-2934_415-2931d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853205 | ||||||
| chr12:119853324
|
C | CA | 10 | a0001c0001t0001g0001a0001c0001t0002g0095a0001c0001t0002g0105others(7): Show | 10 | HG02258.hp1 HG02280.hp2 HG02818.hp2 others(7): Show |
intron_variant | MODIFIER | c.415-3050dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853324 | ||||||
| chr12:119853324
|
CA | C | 27 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(24): Show | 27 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(24): Show |
intron_variant | MODIFIER | c.415-3050delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853324 | ||||||
| chr12:119853324
|
CAA | C | 25 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(22): Show | 25 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.415-3051_415-3050d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853324 | ||||||
| chr12:119853438
|
G | GT | 4 | a0001c0001t0004g0160a0001c0001t0004g0168a0001c0001t0023g0214others(1): Show | 4 | NA18966.hp2 NA18969.hp2 NA18997.hp2 others(1): Show |
intron_variant | MODIFIER | c.415-3164dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853438 | ||||||
| chr12:119853438
|
G | GTTTTGTT others(4): Show |
18 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(15): Show | 18 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(15): Show |
intron_variant | MODIFIER | c.415-3164_415-3163i others(13): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853438 | ||||||
| chr12:119853438
|
G | T | 1 | a0001c0015t0006g0004 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.415-3163C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853438 | ||||||
| chr12:119853534
|
C | A | 1 | a0006c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.415-3259G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853534 | ||||||
| chr12:119853659
|
C | A | 67 | a0001c0001t0001g0034a0001c0001t0002g0095a0001c0001t0004g0104others(64): Show | 67 | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(64): Show |
intron_variant | MODIFIER | c.415-3384G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853659 | ||||||
| chr12:119853702
|
C | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.415-3427G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853702 | ||||||
| chr12:119853878
|
T | A | 2 | a0001c0007t0005g0030a0001c0013t0005g0029 | 2 | HG03098.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.415-3603A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853878 | ||||||
| chr12:119854031
|
A | T | 25 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(22): Show | 25 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(22): Show |
intron_variant | MODIFIER | c.414+3492T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854031 | ||||||
| chr12:119854057
|
C | T | 1 | a0001c0034t0001g0063 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.414+3466G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854057 | ||||||
| chr12:119854362
|
C | G | 64 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(61): Show | 64 | HG00597.hp1 HG01168.hp1 HG01169.hp2 others(61): Show |
intron_variant | MODIFIER | c.414+3161G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854362 | ||||||
| chr12:119854404
|
A | G | 26 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(23): Show | 26 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(23): Show |
intron_variant | MODIFIER | c.414+3119T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854404 | ||||||
| chr12:119854623
|
T | C | 1 | a0001c0015t0006g0004 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.414+2900A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854623 | ||||||
| chr12:119854673
|
G | A | 1 | a0001c0001t0001g0147 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.414+2850C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854673 | ||||||
| chr12:119854793
|
A | G | 1 | a0002c0004t0007g0055 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.414+2730T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854793 | ||||||
| chr12:119854852
|
G | C | 1 | a0001c0001t0001g0153 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.414+2671C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854852 | ||||||
| chr12:119854882
|
C | A | 7 | a0001c0005t0008g0215a0001c0005t0010g0216a0001c0005t0010g0217others(4): Show | 7 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.414+2641G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854882 | ||||||
| chr12:119854885
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.414+2638C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854885 | ||||||
| chr12:119854950
|
C | CTAAA | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.414+2569_414+2572d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854950 | ||||||
| chr12:119855236
|
C | T | 1 | a0001c0002t0002g0099 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.414+2287G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855236 | ||||||
| chr12:119855388
|
A | G | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.414+2135T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855388 | ||||||
| chr12:119855571
|
TCCTTC | T | 51 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(48): Show | 51 | HG00597.hp1 HG01243.hp2 HG01934.hp2 others(48): Show |
intron_variant | MODIFIER | c.414+1947_414+1951d others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855571 | ||||||
| chr12:119855839
|
G | A | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.414+1684C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855839 | ||||||
| chr12:119855886
|
C | T | 57 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(54): Show | 57 | HG00597.hp1 HG01243.hp2 HG01934.hp2 others(54): Show |
intron_variant | MODIFIER | c.414+1637G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855886 | ||||||
| chr12:119855893
|
C | A | 1 | a0006c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.414+1630G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855893 | ||||||
| chr12:119855942
|
A | G | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.414+1581T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855942 | ||||||
| chr12:119855945
|
A | G | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.414+1578T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855945 | ||||||
| chr12:119855967
|
T | G | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.414+1556A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855967 | ||||||
| chr12:119856044
|
C | T | 3 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0223 | 3 | HG03239.hp1 HG03688.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.414+1479G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856044 | ||||||
| chr12:119856161
|
T | C | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.414+1362A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856161 | ||||||
| chr12:119856428
|
T | C | 1 | a0001c0001t0001g0206 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.414+1095A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856428 | ||||||
| chr12:119856638
|
G | A | 1 | a0001c0014t0001g0084 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.414+885C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856638 | ||||||
| chr12:119856740
|
T | C | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.414+783A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856740 | ||||||
| chr12:119856742
|
T | C | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.414+781A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856742 | ||||||
| chr12:119856742
|
TC | T | 15 | a0001c0005t0008g0215a0001c0005t0010g0216a0001c0005t0010g0217others(12): Show | 15 | HG01109.hp1 HG02257.hp1 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.414+780delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856742 | ||||||
| chr12:119856750
|
C | T | 3 | a0001c0002t0014g0235a0001c0002t0014g0236a0001c0006t0027g0234 | 3 | HG02976.hp2 HG03579.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.414+773G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856750 | ||||||
| chr12:119856903
|
T | G | 1 | a0006c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.414+620A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856903 | ||||||
| chr12:119857257
|
C | T | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.414+266G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119857257 | ||||||
| chr12:119857294
|
A | C | 1 | a0001c0001t0001g0047 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.414+229T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119857294 | ||||||
| chr12:119857421
|
G | A | 25 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(22): Show | 25 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(22): Show |
intron_variant | MODIFIER | c.414+102C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119857421 | ||||||
| chr12:119857486
|
C | T | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.414+37G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119857486 | ||||||
| chr12:119857836
|
T | C | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-138A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119857836 | ||||||
| chr12:119857862
|
G | A | 1 | a0001c0003t0003g0031 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.239-164C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119857862 | ||||||
| chr12:119857911
|
A | G | 1 | a0001c0001t0004g0163 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.239-213T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119857911 | ||||||
| chr12:119858256
|
C | T | 1 | a0001c0001t0026g0233 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.239-558G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858256 | ||||||
| chr12:119858333
|
A | C | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.239-635T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858333 | ||||||
| chr12:119858378
|
G | A | 1 | a0001c0002t0002g0067 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.239-680C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858378 | ||||||
| chr12:119858380
|
T | G | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-682A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858380 | ||||||
| chr12:119858507
|
ACT | A | 7 | a0001c0005t0008g0215a0001c0005t0010g0216a0001c0005t0010g0217others(4): Show | 7 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.239-811_239-810del others(2): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858507 | ||||||
| chr12:119858543
|
A | G | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-845T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858543 | ||||||
| chr12:119858770
|
C | G | 1 | a0001c0001t0001g0001 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.239-1072G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858770 | ||||||
| chr12:119858800
|
T | C | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-1102A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858800 | ||||||
| chr12:119858821
|
C | A | 1 | a0001c0015t0006g0004 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.239-1123G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858821 | ||||||
| chr12:119858821
|
C | CA | 22 | a0001c0001t0001g0100a0001c0001t0001g0174a0001c0001t0003g0106others(19): Show | 22 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(19): Show |
intron_variant | MODIFIER | c.239-1124dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858821 | ||||||
| chr12:119858838
|
G | A | 2 | a0001c0002t0002g0089a0001c0002t0002g0156 | 2 | HG01515.hp1 HG02523.hp1 |
intron_variant | MODIFIER | c.239-1140C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858838 | ||||||
| chr12:119859028
|
T | C | 3 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022 | 3 | HG02717.hp2 HG02922.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.239-1330A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859028 | ||||||
| chr12:119859062
|
AG | A | 40 | a0001c0001t0002g0095a0001c0001t0004g0104a0001c0001t0004g0157others(37): Show | 40 | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(37): Show |
intron_variant | MODIFIER | c.239-1365delC | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859062 | ||||||
| chr12:119859130
|
A | T | 1 | a0001c0001t0001g0008 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.239-1432T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859130 | ||||||
| chr12:119859309
|
C | A | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-1611G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859309 | ||||||
| chr12:119859554
|
C | T | 1 | a0001c0003t0003g0184 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.239-1856G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859554 | ||||||
| chr12:119859561
|
A | G | 1 | a0001c0025t0003g0064 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.239-1863T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859561 | ||||||
| chr12:119859616
|
A | C | 1 | a0001c0001t0001g0201 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.239-1918T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859616 | ||||||
| chr12:119859659
|
A | G | 6 | a0001c0003t0003g0208a0001c0003t0003g0209a0001c0003t0003g0213others(3): Show | 6 | HG01243.hp1 HG02109.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.239-1961T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859659 | ||||||
| chr12:119859707
|
C | T | 7 | a0001c0001t0001g0179a0001c0001t0001g0199a0001c0001t0001g0200others(4): Show | 7 | HG03017.hp2 HG03710.hp1 HG03834.hp2 others(4): Show |
intron_variant | MODIFIER | c.239-2009G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859707 | ||||||
| chr12:119859762
|
A | G | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-2064T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859762 | ||||||
| chr12:119859805
|
C | T | 1 | a0001c0002t0001g0070 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.239-2107G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859805 | ||||||
| chr12:119859809
|
G | A | 2 | a0001c0003t0005g0189a0001c0003t0005g0190 | 2 | HG01257.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.239-2111C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859809 | ||||||
| chr12:119859873
|
C | G | 1 | a0002c0004t0007g0033 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.239-2175G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859873 | ||||||
| chr12:119859957
|
T | C | 36 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(33): Show | 36 | HG01168.hp1 HG01169.hp2 HG01243.hp2 others(33): Show |
intron_variant | MODIFIER | c.239-2259A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859957 | ||||||
| chr12:119859963
|
C | T | 4 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0013t0003g0025others(1): Show | 4 | HG01243.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.239-2265G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859963 | ||||||
| chr12:119860131
|
A | G | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-2433T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119860131 | ||||||
| chr12:119860206
|
G | A | 3 | a0001c0002t0018g0068a0001c0002t0020g0069a0001c0027t0002g0079 | 3 | NA18939.hp2 NA18960.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.239-2508C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119860206 | ||||||
| chr12:119860277
|
T | C | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-2579A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119860277 | ||||||
| chr12:119860409
|
T | C | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-2711A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119860409 | ||||||
| chr12:119860819
|
A | G | 1 | a0001c0001t0001g0109 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.239-3121T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119860819 | ||||||
| chr12:119860822
|
T | TA | 32 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(29): Show | 32 | HG01243.hp2 HG01934.hp1 HG01934.hp2 others(29): Show |
intron_variant | MODIFIER | c.239-3125dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119860822 | ||||||
| chr12:119860868
|
C | T | 1 | a0001c0001t0001g0226 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.239-3170G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119860868 | ||||||
| chr12:119860899
|
T | C | 1 | a0001c0001t0001g0225 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.239-3201A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119860899 | ||||||
| chr12:119861062
|
A | G | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-3364T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119861062 | ||||||
| chr12:119861450
|
C | G | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-3752G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119861450 | ||||||
| chr12:119861459
|
T | C | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-3761A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119861459 | ||||||
| chr12:119861536
|
G | A | 56 | a0001c0001t0002g0095a0001c0001t0004g0104a0001c0001t0004g0157others(53): Show | 56 | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(53): Show |
intron_variant | MODIFIER | c.239-3838C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119861536 | ||||||
| chr12:119861552
|
A | T | 1 | a0001c0015t0006g0023 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.239-3854T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119861552 | ||||||
| chr12:119861693
|
C | T | 9 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0017others(6): Show | 9 | HG02257.hp2 HG02559.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.239-3995G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119861693 | ||||||
| chr12:119861992
|
GGTTT | G | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-4298_239-4295d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119861992 | ||||||
| chr12:119862114
|
A | C | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-4416T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862114 | ||||||
| chr12:119862126
|
G | A | 1 | a0001c0001t0004g0151 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.239-4428C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862126 | ||||||
| chr12:119862180
|
G | A | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-4482C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862180 | ||||||
| chr12:119862339
|
G | GCA | 2 | a0001c0001t0001g0147a0001c0001t0002g0141 | 2 | NA18959.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.239-4643_239-4642d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862339 | ||||||
| chr12:119862367
|
C | T | 6 | a0001c0005t0008g0215a0001c0005t0010g0216a0001c0005t0010g0217others(3): Show | 6 | HG02257.hp1 HG02559.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.239-4669G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862367 | ||||||
| chr12:119862450
|
A | T | 1 | a0001c0001t0002g0144 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.239-4752T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862450 | ||||||
| chr12:119862521
|
A | C | 15 | a0001c0005t0008g0215a0001c0005t0010g0216a0001c0005t0010g0217others(12): Show | 15 | HG01109.hp1 HG02257.hp1 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.239-4823T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862521 | ||||||
| chr12:119862721
|
A | C | 1 | a0001c0006t0012g0115 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.239-5023T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862721 | ||||||
| chr12:119862736
|
G | C | 25 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(22): Show | 25 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(22): Show |
intron_variant | MODIFIER | c.239-5038C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862736 | ||||||
| chr12:119862803
|
C | T | 1 | a0006c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.239-5105G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862803 | ||||||
| chr12:119862808
|
T | TA | 20 | a0001c0001t0001g0001a0001c0001t0001g0109a0001c0001t0001g0138others(17): Show | 20 | HG00741.hp2 HG01106.hp1 HG01106.hp2 others(17): Show |
intron_variant | MODIFIER | c.239-5111dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
T | TAA | 6 | a0001c0001t0001g0181a0001c0001t0001g0195a0001c0002t0013g0196others(3): Show | 6 | HG00280.hp1 HG01515.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.239-5112_239-5111d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
T | TAAAAA | 5 | a0001c0001t0001g0226a0001c0003t0017g0060a0001c0005t0008g0215others(2): Show | 5 | HG02056.hp2 HG02451.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.239-5115_239-5111d others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
T | TAAAAAA | 9 | a0001c0005t0010g0217a0001c0005t0010g0221a0001c0007t0005g0062others(6): Show | 9 | HG00408.hp1 HG02258.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.239-5116_239-5111d others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
T | TAAAAAAA | 5 | a0001c0007t0005g0218a0001c0009t0009g0036a0002c0004t0007g0055others(2): Show | 5 | HG02257.hp1 HG02809.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.239-5117_239-5111d others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
T | TAAAAAAA others(1): Show |
7 | a0001c0003t0003g0037a0001c0005t0010g0042a0001c0005t0022g0041others(4): Show | 7 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(4): Show |
intron_variant | MODIFIER | c.239-5118_239-5111d others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
T | TAAAAAAA others(2): Show |
13 | a0001c0002t0002g0065a0001c0002t0002g0066a0001c0002t0002g0067others(10): Show | 13 | HG00738.hp1 HG02165.hp1 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.239-5119_239-5111d others(11): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
T | TAAAAAAA others(3): Show |
26 | a0001c0001t0002g0095a0001c0001t0004g0104a0001c0001t0004g0146others(23): Show | 26 | HG00597.hp2 HG00741.hp1 HG01167.hp2 others(23): Show |
intron_variant | MODIFIER | c.239-5120_239-5111d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
T | TAAAAAAA others(4): Show |
7 | a0001c0002t0002g0081a0001c0002t0002g0083a0001c0002t0002g0091others(4): Show | 7 | HG02109.hp1 HG03209.hp1 NA18966.hp1 others(4): Show |
intron_variant | MODIFIER | c.239-5121_239-5111d others(13): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
T | TAAAAAAA others(5): Show |
4 | a0001c0001t0001g0034a0001c0001t0004g0157a0001c0002t0001g0093others(1): Show | 4 | NA19006.hp2 NA19043.hp2 NA19080.hp1 others(1): Show |
intron_variant | MODIFIER | c.239-5122_239-5111d others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
T | TAAAAAAA others(6): Show |
2 | a0001c0003t0003g0086a0001c0005t0008g0085 | 2 | HG00735.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.239-5123_239-5111d others(15): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
T | TAAAAAAA others(7): Show |
3 | a0001c0002t0001g0058a0001c0002t0001g0087a0001c0002t0002g0102 | 3 | HG03139.hp2 NA18959.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.239-5124_239-5111d others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
T | TAAAAAAA others(8): Show |
2 | a0001c0002t0002g0088a0001c0002t0002g0089 | 2 | HG02080.hp2 HG02523.hp1 |
intron_variant | MODIFIER | c.239-5125_239-5111d others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
T | TAAAAAAA others(9): Show |
2 | a0001c0002t0002g0090a0001c0002t0002g0156 | 2 | HG01515.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.239-5126_239-5111d others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
T | TTAAAAAA others(6): Show |
1 | a0001c0002t0002g0092 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.239-5111_239-5110i others(15): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
TA | T | 23 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(20): Show | 23 | HG01243.hp2 HG01934.hp2 HG02071.hp2 others(20): Show |
intron_variant | MODIFIER | c.239-5111delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
TAAA | T | 6 | a0001c0001t0001g0172a0001c0001t0004g0160a0001c0001t0004g0173others(3): Show | 6 | HG02027.hp1 HG02965.hp1 NA18966.hp2 others(3): Show |
intron_variant | MODIFIER | c.239-5113_239-5111d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
TAAAA | T | 16 | a0001c0001t0001g0100a0001c0001t0001g0174a0001c0001t0004g0161others(13): Show | 16 | HG00597.hp1 HG02015.hp2 HG02080.hp1 others(13): Show |
intron_variant | MODIFIER | c.239-5114_239-5111d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
TAAAAAAA others(3): Show |
T | 1 | a0001c0023t0004g0059 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.239-5120_239-5111d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862808
|
TAAAAAAA others(7): Show |
T | 1 | a0001c0015t0006g0004 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.239-5124_239-5111d others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | ||||||
| chr12:119862832
|
A | AAAAAAAA others(15): Show |
1 | a0003c0019t0003g0231 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.239-5135_239-5134i others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862832 | ||||||
| chr12:119862832
|
A | AAAAAAAA others(16): Show |
1 | a0003c0019t0003g0002 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.239-5135_239-5134i others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862832 | ||||||
| chr12:119862838
|
A | G | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.239-5140T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862838 | ||||||
| chr12:119862841
|
G | A | 2 | a0001c0001t0002g0095a0001c0002t0002g0227 | 2 | NA18997.hp1 NA18997.hp2 |
intron_variant | MODIFIER | c.239-5143C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862841 | ||||||
| chr12:119862848
|
C | A | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.239-5150G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862848 | ||||||
| chr12:119862849
|
CA | C | 53 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(50): Show | 53 | HG00597.hp1 HG01243.hp2 HG01934.hp2 others(50): Show |
intron_variant | MODIFIER | c.239-5152delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862849 | ||||||
| chr12:119862850
|
A | C | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.239-5152T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862850 | ||||||
| chr12:119862924
|
G | A | 58 | a0001c0001t0001g0001a0001c0001t0001g0047a0001c0001t0001g0049others(55): Show | 58 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(55): Show |
intron_variant | MODIFIER | c.239-5226C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862924 | ||||||
| chr12:119862926
|
G | A | 1 | a0006c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.239-5228C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862926 | ||||||
| chr12:119862980
|
G | A | 2 | a0001c0001t0001g0175a0008c0033t0006g0176 | 2 | HG00733.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.239-5282C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862980 | ||||||
| chr12:119863041
|
A | G | 3 | a0001c0003t0003g0208a0001c0003t0003g0209a0001c0003t0003g0213 | 3 | HG01243.hp1 HG02647.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.239-5343T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863041 | ||||||
| chr12:119863072
|
C | T | 3 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022 | 3 | HG02717.hp2 HG02922.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.239-5374G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863072 | ||||||
| chr12:119863196
|
T | C | 1 | a0001c0001t0002g0139 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.239-5498A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863196 | ||||||
| chr12:119863201
|
C | CA | 19 | a0001c0001t0001g0140a0001c0001t0002g0141a0001c0001t0025g0107others(16): Show | 19 | HG01109.hp2 HG02258.hp1 HG02280.hp2 others(16): Show |
intron_variant | MODIFIER | c.239-5504dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863201 | ||||||
| chr12:119863201
|
C | CAA | 18 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0016others(15): Show | 18 | HG01109.hp1 HG01243.hp2 HG01934.hp2 others(15): Show |
intron_variant | MODIFIER | c.239-5505_239-5504d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863201 | ||||||
| chr12:119863201
|
C | CAAA | 11 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0017others(8): Show | 11 | HG02257.hp2 HG02559.hp1 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.239-5506_239-5504d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863201 | ||||||
| chr12:119863201
|
C | CAAAA | 18 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(15): Show | 18 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(15): Show |
intron_variant | MODIFIER | c.239-5507_239-5504d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863201 | ||||||
| chr12:119863328
|
T | A | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-5630A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863328 | ||||||
| chr12:119863332
|
A | G | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-5634T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863332 | ||||||
| chr12:119863363
|
G | A | 2 | a0001c0001t0001g0015a0001c0001t0001g0016 | 2 | HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.239-5665C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863363 | ||||||
| chr12:119863432
|
G | C | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.238+5628C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863432 | ||||||
| chr12:119863466
|
T | A | 1 | a0001c0001t0015g0094 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.238+5594A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863466 | ||||||
| chr12:119863514
|
GT | G | 23 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(20): Show | 23 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(20): Show |
intron_variant | MODIFIER | c.238+5545delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863514 | ||||||
| chr12:119863675
|
C | T | 1 | a0001c0001t0026g0233 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.238+5385G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863675 | ||||||
| chr12:119863717
|
C | T | 1 | a0006c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.238+5343G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863717 | ||||||
| chr12:119863718
|
G | A | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.238+5342C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863718 | ||||||
| chr12:119863782
|
G | A | 27 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(24): Show | 27 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(24): Show |
intron_variant | MODIFIER | c.238+5278C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863782 | ||||||
| chr12:119863829
|
C | A | 1 | a0001c0001t0002g0095 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.238+5231G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863829 | ||||||
| chr12:119863846
|
G | GA | 7 | a0001c0001t0001g0206a0001c0002t0002g0045a0001c0002t0002g0046others(4): Show | 7 | HG03098.hp1 HG03490.hp2 HG03492.hp2 others(4): Show |
intron_variant | MODIFIER | c.238+5213dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863846 | ||||||
| chr12:119863850
|
A | G | 1 | a0001c0010t0002g0113 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.238+5210T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863850 | ||||||
| chr12:119863923
|
T | C | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.238+5137A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863923 | ||||||
| chr12:119864116
|
T | G | 2 | a0001c0001t0001g0015a0001c0001t0001g0016 | 2 | HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.238+4944A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119864116 | ||||||
| chr12:119864228
|
A | G | 1 | a0001c0001t0001g0100 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.238+4832T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119864228 | ||||||
| chr12:119864418
|
C | T | 1 | a0001c0009t0009g0043 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.238+4642G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119864418 | ||||||
| chr12:119864671
|
T | C | 2 | a0001c0001t0001g0143a0001c0001t0004g0151 | 2 | NA18983.hp1 NA18993.hp1 |
intron_variant | MODIFIER | c.238+4389A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119864671 | ||||||
| chr12:119864812
|
A | G | 25 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(22): Show | 25 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(22): Show |
intron_variant | MODIFIER | c.238+4248T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119864812 | ||||||
| chr12:119864869
|
TG | T | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.238+4190delC | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119864869 | ||||||
| chr12:119865008
|
G | C | 203 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(200): Show | 203 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(200): Show |
intron_variant | MODIFIER | c.238+4052C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865008 | ||||||
| chr12:119865122
|
A | C | 49 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(46): Show | 49 | HG00597.hp1 HG01243.hp2 HG01934.hp2 others(46): Show |
intron_variant | MODIFIER | c.238+3938T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865122 | ||||||
| chr12:119865228
|
G | C | 1 | a0001c0001t0002g0144 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.238+3832C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865228 | ||||||
| chr12:119865325
|
A | C | 1 | a0001c0006t0024g0112 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.238+3735T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865325 | ||||||
| chr12:119865577
|
T | C | 6 | a0001c0001t0001g0179a0001c0001t0001g0200a0001c0001t0001g0201others(3): Show | 6 | HG03017.hp2 HG03834.hp2 HG04199.hp1 others(3): Show |
intron_variant | MODIFIER | c.238+3483A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865577 | ||||||
| chr12:119865591
|
T | C | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.238+3469A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865591 | ||||||
| chr12:119865864
|
CA | C | 189 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(186): Show | 189 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(186): Show |
intron_variant | MODIFIER | c.238+3195delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865864 | ||||||
| chr12:119865864
|
CAA | C | 7 | a0001c0001t0003g0111a0001c0001t0023g0214a0001c0013t0005g0029others(4): Show | 7 | HG02258.hp2 HG02622.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.238+3194_238+3195d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865864 | ||||||
| chr12:119865899
|
C | T | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.238+3161G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865899 | ||||||
| chr12:119865973
|
AT | A | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.238+3086delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865973 | ||||||
| chr12:119866816
|
A | T | 1 | a0001c0001t0001g0181 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.238+2244T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119866816 | ||||||
| chr12:119867193
|
C | CT | 5 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(2): Show | 5 | HG02717.hp1 HG02717.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.238+1866dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119867193 | ||||||
| chr12:119867334
|
G | A | 2 | a0001c0005t0010g0042a0001c0005t0022g0041 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.238+1726C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119867334 | ||||||
| chr12:119867432
|
G | A | 1 | a0001c0001t0001g0179 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.238+1628C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119867432 | ||||||
| chr12:119867452
|
C | T | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.238+1608G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119867452 | ||||||
| chr12:119867484
|
A | G | 24 | a0001c0001t0001g0100a0001c0001t0001g0172a0001c0001t0001g0174others(21): Show | 24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.238+1576T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119867484 | ||||||
| chr12:119867578
|
T | C | 38 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(35): Show | 38 | HG01168.hp1 HG01169.hp2 HG01243.hp2 others(35): Show |
intron_variant | MODIFIER | c.238+1482A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119867578 | ||||||
| chr12:119867619
|
T | C | 60 | a0001c0001t0001g0001a0001c0001t0001g0047a0001c0001t0001g0049others(57): Show | 60 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(57): Show |
intron_variant | MODIFIER | c.238+1441A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119867619 | ||||||
| chr12:119868058
|
A | G | 1 | a0001c0001t0002g0110 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.238+1002T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119868058 | ||||||
| chr12:119868148
|
A | C | 11 | a0001c0001t0005g0020a0001c0003t0003g0024a0001c0003t0003g0026others(8): Show | 11 | HG01243.hp2 HG02717.hp2 HG02922.hp1 others(8): Show |
intron_variant | MODIFIER | c.238+912T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119868148 | ||||||
| chr12:119868422
|
G | A | 2 | a0001c0001t0001g0206a0001c0003t0003g0205 | 2 | HG03834.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.238+638C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119868422 | ||||||
| chr12:119868429
|
C | T | 13 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(10): Show | 13 | HG01934.hp2 HG02257.hp2 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.238+631G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119868429 | ||||||
| chr12:119868966
|
C | T | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.238+94G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119868966 | ||||||
| chr12:119869001
|
G | A | 19 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0001g0175others(16): Show | 19 | HG00733.hp1 HG01258.hp1 HG02015.hp2 others(16): Show |
intron_variant | MODIFIER | c.238+59C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119869001 | ||||||
| chr12:119869638
|
T | A | 1 | a0001c0011t0009g0098 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.97-437A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119869638 | ||||||
| chr12:119869686
|
G | GAGAAATA others(325): Show |
1 | a0001c0002t0002g0099 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.97-486_97-485insTT others(330): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119869686 | ||||||
| chr12:119869854
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.97-653C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119869854 | ||||||
| chr12:119869885
|
C | T | 1 | a0001c0007t0005g0030 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.97-684G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119869885 | ||||||
| chr12:119870137
|
A | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.97-936T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870137 | ||||||
| chr12:119870275
|
A | G | 15 | a0001c0001t0005g0020a0001c0003t0003g0024a0001c0003t0003g0026others(12): Show | 15 | HG01243.hp2 HG02717.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.97-1074T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870275 | ||||||
| chr12:119870277
|
A | G | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.97-1076T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870277 | ||||||
| chr12:119870321
|
C | T | 3 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0223 | 3 | HG03239.hp1 HG03688.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.97-1120G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870321 | ||||||
| chr12:119870395
|
C | G | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.97-1194G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870395 | ||||||
| chr12:119870426
|
C | T | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.97-1225G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870426 | ||||||
| chr12:119870445
|
G | C | 2 | a0001c0007t0005g0030a0001c0013t0005g0029 | 2 | HG03098.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.97-1244C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870445 | ||||||
| chr12:119870449
|
T | C | 11 | a0001c0001t0005g0020a0001c0003t0003g0024a0001c0003t0003g0026others(8): Show | 11 | HG01243.hp2 HG02717.hp2 HG02922.hp1 others(8): Show |
intron_variant | MODIFIER | c.97-1248A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870449 | ||||||
| chr12:119870549
|
C | CA | 42 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(39): Show | 42 | HG00597.hp1 HG01081.hp1 HG01168.hp1 others(39): Show |
intron_variant | MODIFIER | c.97-1349dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870549 | ||||||
| chr12:119870549
|
C | CAA | 63 | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0047others(60): Show | 63 | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(60): Show |
intron_variant | MODIFIER | c.97-1350_97-1349dup others(2): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870549 | ||||||
| chr12:119870549
|
C | CAAA | 13 | a0001c0001t0001g0147a0001c0001t0001g0149a0001c0001t0001g0174others(10): Show | 13 | HG00733.hp1 HG01109.hp2 HG01258.hp1 others(10): Show |
intron_variant | MODIFIER | c.97-1351_97-1349dup others(3): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870549 | ||||||
| chr12:119870549
|
CA | C | 7 | a0001c0001t0001g0180a0001c0002t0001g0058a0001c0002t0014g0235others(4): Show | 7 | HG02976.hp2 HG03098.hp1 HG03139.hp2 others(4): Show |
intron_variant | MODIFIER | c.97-1349delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870549 | ||||||
| chr12:119870549
|
CAA | C | 7 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(4): Show | 7 | HG02717.hp2 HG02922.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.97-1350_97-1349del others(2): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870549 | ||||||
| chr12:119870634
|
A | G | 59 | a0001c0001t0001g0097a0001c0001t0001g0100a0001c0001t0002g0095others(56): Show | 59 | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(56): Show |
intron_variant | MODIFIER | c.97-1433T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870634 | ||||||
| chr12:119870833
|
C | T | 59 | a0001c0001t0001g0097a0001c0001t0001g0100a0001c0001t0002g0095others(56): Show | 59 | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(56): Show |
intron_variant | MODIFIER | c.97-1632G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870833 | ||||||
| chr12:119870839
|
A | G | 197 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(194): Show | 197 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(194): Show |
intron_variant | MODIFIER | c.97-1638T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870839 | ||||||
| chr12:119870901
|
G | A | 4 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(1): Show | 4 | HG02717.hp2 HG02922.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.97-1700C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870901 | ||||||
| chr12:119870980
|
G | A | 3 | a0001c0002t0002g0152a0003c0019t0003g0002a0003c0019t0003g0231 | 3 | HG02717.hp1 HG03130.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.97-1779C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870980 | ||||||
| chr12:119871074
|
G | A | 1 | a0010c0032t0001g0028 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.97-1873C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119871074 | ||||||
| chr12:119871088
|
C | T | 15 | a0001c0005t0008g0215a0001c0005t0010g0216a0001c0005t0010g0217others(12): Show | 15 | HG01109.hp1 HG02257.hp1 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.97-1887G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119871088 | ||||||
| chr12:119871118
|
T | TA | 181 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(178): Show | 181 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(178): Show |
intron_variant | MODIFIER | c.97-1918dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119871118 | ||||||
| chr12:119871118
|
T | TAA | 12 | a0001c0001t0001g0018a0001c0003t0003g0037a0001c0003t0003g0040others(9): Show | 12 | HG01168.hp1 HG02451.hp1 HG02630.hp1 others(9): Show |
intron_variant | MODIFIER | c.97-1919_97-1918dup others(2): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119871118 | ||||||
| chr12:119871457
|
A | AAAAC | 3 | a0001c0002t0013g0048a0003c0019t0003g0002a0003c0019t0003g0231 | 3 | HG00738.hp1 HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.97-2260_97-2257dup others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119871457 | ||||||
| chr12:119871655
|
A | G | 3 | a0001c0035t0003g0007a0004c0018t0006g0005a0004c0018t0006g0006 | 3 | HG02896.hp1 HG02897.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.97-2454T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119871655 | ||||||
| chr12:119872205
|
T | C | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.97-3004A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119872205 | ||||||
| chr12:119872247
|
C | T | 13 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(10): Show | 13 | HG01934.hp2 HG02257.hp2 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.97-3046G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119872247 | ||||||
| chr12:119872612
|
A | T | 12 | a0001c0001t0001g0034a0001c0003t0003g0037a0001c0003t0003g0040others(9): Show | 12 | HG01168.hp1 HG01169.hp2 HG02451.hp1 others(9): Show |
intron_variant | MODIFIER | c.97-3411T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119872612 | ||||||
| chr12:119872889
|
G | A | 2 | a0001c0001t0001g0047a0001c0001t0001g0153 | 2 | HG00280.hp2 HG01081.hp1 |
intron_variant | MODIFIER | c.96+3184C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119872889 | ||||||
| chr12:119873179
|
C | G | 1 | a0001c0001t0001g0179 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.96+2894G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873179 | ||||||
| chr12:119873268
|
C | CT | 27 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(24): Show | 27 | HG00280.hp2 HG01243.hp2 HG01934.hp2 others(24): Show |
intron_variant | MODIFIER | c.96+2804dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873268 | ||||||
| chr12:119873268
|
CT | C | 10 | a0001c0001t0001g0158a0001c0001t0004g0157a0001c0002t0002g0156others(7): Show | 10 | HG01515.hp1 HG02896.hp1 HG02897.hp1 others(7): Show |
intron_variant | MODIFIER | c.96+2804delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873268 | ||||||
| chr12:119873341
|
A | G | 1 | a0001c0003t0003g0178 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.96+2732T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873341 | ||||||
| chr12:119873428
|
C | T | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.96+2645G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873428 | ||||||
| chr12:119873435
|
A | C | 2 | a0001c0002t0002g0045a0001c0002t0002g0046 | 2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.96+2638T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873435 | ||||||
| chr12:119873497
|
C | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.96+2576G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873497 | ||||||
| chr12:119873543
|
T | C | 1 | a0008c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.96+2530A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873543 | ||||||
| chr12:119873780
|
G | GA | 235 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(232): Show | 235 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(232): Show |
intron_variant | MODIFIER | c.96+2292dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873780 | ||||||
| chr12:119873899
|
T | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.96+2174A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873899 | ||||||
| chr12:119873947
|
G | T | 2 | a0001c0030t0005g0032a0002c0004t0007g0033 | 2 | HG02886.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.96+2126C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873947 | ||||||
| chr12:119873989
|
C | G | 42 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(39): Show | 42 | HG01168.hp1 HG01169.hp2 HG01243.hp2 others(39): Show |
intron_variant | MODIFIER | c.96+2084G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873989 | ||||||
| chr12:119874342
|
C | G | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.96+1731G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119874342 | ||||||
| chr12:119874364
|
T | C | 19 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0001g0175others(16): Show | 19 | HG00733.hp1 HG01258.hp1 HG02015.hp2 others(16): Show |
intron_variant | MODIFIER | c.96+1709A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119874364 | ||||||
| chr12:119874695
|
A | G | 197 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(194): Show | 197 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(194): Show |
intron_variant | MODIFIER | c.96+1378T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119874695 | ||||||
| chr12:119874702
|
C | A | 1 | a0001c0001t0023g0214 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.96+1371G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119874702 | ||||||
| chr12:119874713
|
C | T | 2 | a0001c0007t0005g0030a0001c0013t0005g0029 | 2 | HG03098.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.96+1360G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119874713 | ||||||
| chr12:119874768
|
C | T | 6 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022others(3): Show | 6 | HG02717.hp2 HG02922.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.96+1305G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119874768 | ||||||
| chr12:119874885
|
C | CA | 20 | a0001c0001t0001g0001a0001c0001t0001g0223a0001c0001t0001g0224others(17): Show | 20 | HG00741.hp2 HG01109.hp1 HG01168.hp2 others(17): Show |
intron_variant | MODIFIER | c.96+1187dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119874885 | ||||||
| chr12:119874885
|
CA | C | 6 | a0001c0003t0003g0031a0001c0007t0005g0030a0001c0013t0005g0029others(3): Show | 6 | HG01069.hp1 HG02717.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.96+1187delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119874885 | ||||||
| chr12:119875060
|
G | T | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.96+1013C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119875060 | ||||||
| chr12:119875287
|
A | G | 1 | a0010c0032t0001g0028 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.96+786T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119875287 | ||||||
| chr12:119875425
|
T | C | 10 | a0001c0001t0005g0020a0001c0003t0003g0024a0001c0003t0003g0026others(7): Show | 10 | HG01243.hp2 HG02717.hp2 HG02922.hp1 others(7): Show |
intron_variant | MODIFIER | c.96+648A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119875425 | ||||||
| chr12:119875706
|
T | C | 26 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(23): Show | 26 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(23): Show |
intron_variant | MODIFIER | c.96+367A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119875706 | ||||||
| chr12:119875707
|
G | A | 24 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(21): Show | 24 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(21): Show |
intron_variant | MODIFIER | c.96+366C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119875707 | ||||||
| chr12:119875779
|
C | T | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.96+294G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119875779 | ||||||
| chr12:119875845
|
G | A | 4 | a0001c0003t0003g0024a0001c0003t0003g0026a0001c0013t0003g0025others(1): Show | 4 | HG01243.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.96+228C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119875845 | ||||||
| chr12:119876202
|
T | C | 1 | a0001c0001t0001g0230 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-13-21A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119876202 | ||||||
| chr12:119876365
|
G | A | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.-13-184C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119876365 | ||||||
| chr12:119876500
|
C | T | 21 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(18): Show | 21 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.-13-319G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119876500 | ||||||
| chr12:119876713
|
A | G | 1 | a0001c0001t0005g0020 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-13-532T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119876713 | ||||||
| chr12:119876771
|
G | A | 12 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(9): Show | 12 | HG01934.hp2 HG02257.hp2 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.-14+478C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119876771 | ||||||
| chr12:119876906
|
A | G | 2 | a0003c0019t0003g0002a0003c0019t0003g0231 | 2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.-14+343T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119876906 | ||||||
| chr12:119876930
|
G | A | 3 | a0001c0001t0005g0020a0001c0005t0008g0021a0001c0005t0008g0022 | 3 | HG02717.hp2 HG02922.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-14+319C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119876930 | ||||||
| chr12:119877094
|
C | G | 23 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(20): Show | 23 | HG01934.hp2 HG02257.hp2 HG02559.hp1 others(20): Show |
intron_variant | MODIFIER | c.-14+155G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119877094 | ||||||
| chr12:119877107
|
A | G | 1 | a0001c0001t0001g0001 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.-14+142T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119877107 | ||||||
| chr12:119877128
|
G | A | 2 | a0001c0001t0001g0232a0003c0019t0003g0231 | 2 | HG02717.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.-14+121C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119877128 |