Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 23389 |
|---|---|
| ensemblid | ENSG00000123066.9 |
| hgncid | 22962 |
| symbol | MED13L |
| name | mediator complex subunit 13L |
| refseq_nuc | NM_015335.5 |
| refseq_prot | NP_056150.1 |
| ensembl_nuc | ENST00000281928.9 |
| ensembl_prot | ENSP00000281928.3 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 115958576 |
| end | 116277693 |
| strand | - |
| ver | v1.2 |
| region | chr12:115958576-116277693 |
| region5000 | chr12:115953576-116282693 |
| regionname0 | MED13L_chr12_115958576_116277693 |
| regionname5000 | MED13L_chr12_115953576_116282693 |
| 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 | 2210 | 246 | 51 | 39 | 114 | 15 | 25 | 85 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0002 | 0/0 | 2210 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0003 | 0/0 | 2210 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0004 | 0/0 | 2210 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0005 | 0/0 | 2210 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0006 | 0/0 | 2210 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0007 | 0/0 | 2210 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0008 | 0/0 | 2210 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0009 | 0/0 | 2210 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| 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 | 1/0 | 6633 | 160 | 32 | 25 | 82 | 5 | 15 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0002 | 0/1 | 6633 | 52 | 4 | 7 | 25 | 6 | 9 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0003 | 0/0 | 6633 | 9 | 9 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0004 | 0/0 | 6633 | 9 | 0 | 4 | 0 | 4 | 1 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0005 | 0/0 | 6633 | 5 | 5 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0006 | 0/0 | 6633 | 2 | 0 | 2 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0007 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0008 | 0/0 | 6633 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0009 | 0/0 | 6633 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0010 | 0/0 | 6633 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0011 | 0/0 | 6633 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0012 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0013 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0014 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0015 | 0/0 | 6633 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0016 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0017 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0018 | 0/0 | 6633 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0019 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0020 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0021 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0022 | 0/0 | 6633 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| c0023 | 0/0 | 6633 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| 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 | 0/0 | 3371 | 143 | 37 | 13 | 79 | 7 | 7 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| t0002 | 0/1 | 3371 | 52 | 5 | 8 | 24 | 5 | 9 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| t0003 | 0/0 | 3372 | 20 | 5 | 4 | 8 | 0 | 3 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| t0004 | 0/0 | 3371 | 16 | 2 | 8 | 0 | 3 | 3 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| t0005 | 0/0 | 3371 | 5 | 1 | 3 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| t0006 | 0/0 | 3372 | 4 | 0 | 2 | 2 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| t0007 | 0/0 | 3373 | 2 | 0 | 0 | 0 | 0 | 2 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| t0008 | 0/0 | 3372 | 2 | 0 | 2 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| t0009 | 0/0 | 3372 | 2 | 0 | 0 | 1 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| t0010 | 0/0 | 3372 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| t0011 | 0/0 | 3371 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| t0012 | 0/0 | 3371 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| t0013 | 0/0 | 3371 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| t0014 | 0/0 | 3371 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| t0015 | 1/0 | 3253 | 1 | 0 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| t0016 | 0/0 | 3371 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| t0017 | 0/0 | 3371 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| 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 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0038 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0065 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0066 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0073 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0074 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0084 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0124 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0150 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0181 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0182 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0186 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0189 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0196 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0197 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0206 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0209 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0216 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0219 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0230 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0233 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0240 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0241 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0243 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0247 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0252 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| 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 | 1/0 | 6633 | 160 | 32 | 25 | 82 | 5 | 15 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0002 | 0/1 | 6633 | 52 | 4 | 7 | 25 | 6 | 9 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0003 | 0/0 | 6633 | 9 | 9 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0004 | 0/0 | 6633 | 9 | 0 | 4 | 0 | 4 | 1 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0005 | 0/0 | 6633 | 5 | 5 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0006 | 0/0 | 6633 | 2 | 0 | 2 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0008 | 0/0 | 6633 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0010 | 0/0 | 6633 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0012 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0013 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0014 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0016 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0017 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0020 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0021 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0002c0007 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0003c0009 | 0/0 | 6633 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0004c0022 | 0/0 | 6633 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0005c0018 | 0/0 | 6633 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0006c0019 | 0/0 | 6633 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0007c0015 | 0/0 | 6633 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0008c0011 | 0/0 | 6633 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0009c0023 | 0/0 | 6633 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 10003 | 111 | 23 | 8 | 72 | 3 | 5 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0001t0002 | 0/0 | 10003 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0001t0003 | 0/0 | 10004 | 18 | 4 | 3 | 8 | 0 | 3 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0001t0004 | 0/0 | 10003 | 15 | 2 | 8 | 0 | 2 | 3 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0001t0005 | 0/0 | 10003 | 5 | 1 | 3 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0001t0006 | 0/0 | 10004 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0001t0007 | 0/0 | 10005 | 2 | 0 | 0 | 0 | 0 | 2 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0001t0008 | 0/0 | 10004 | 2 | 0 | 2 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0001t0010 | 0/0 | 10004 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0001t0013 | 0/0 | 10003 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0001t0014 | 0/0 | 10003 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0001t0015 | 1/0 | 9885 | 1 | 0 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0001t0017 | 0/0 | 10003 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0002t0002 | 0/1 | 10003 | 46 | 4 | 6 | 22 | 5 | 8 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0002t0006 | 0/0 | 10004 | 3 | 0 | 1 | 2 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0002t0009 | 0/0 | 10004 | 2 | 0 | 0 | 1 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0002t0011 | 0/0 | 10003 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0003t0001 | 0/0 | 10003 | 6 | 6 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0003t0003 | 0/0 | 10004 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0003t0012 | 0/0 | 10003 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0003t0016 | 0/0 | 10003 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0004t0001 | 0/0 | 10003 | 9 | 0 | 4 | 0 | 4 | 1 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0005t0001 | 0/0 | 10003 | 5 | 5 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0006t0002 | 0/0 | 10003 | 2 | 0 | 2 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0008t0003 | 0/0 | 10004 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0010t0001 | 0/0 | 10003 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0012t0001 | 0/0 | 10003 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0013t0001 | 0/0 | 10003 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0014t0002 | 0/0 | 10003 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0016t0001 | 0/0 | 10003 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0017t0001 | 0/0 | 10003 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0020t0001 | 0/0 | 10003 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0001c0021t0001 | 0/0 | 10003 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0002c0007t0002 | 0/0 | 10003 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0003c0009t0001 | 0/0 | 10003 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0004c0022t0001 | 0/0 | 10003 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0005c0018t0001 | 0/0 | 10003 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0006c0019t0001 | 0/0 | 10003 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0007c0015t0001 | 0/0 | 10003 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0008c0011t0002 | 0/0 | 10003 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| a0009c0023t0004 | 0/0 | 10003 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | copy fasta | chr12 | 115953576 | 116282693 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0247 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0001g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0003g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0004g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0004g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0004g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0004g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0004g0186 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0004g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0004g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0004g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0004g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0004g0209 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0004g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0004g0230 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0004g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0004g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0004g0241 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0005g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0005g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0005g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0005g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0005g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0006g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0007g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0007g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0008g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0008g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0010g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0013g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0014g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0015g0252 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0001t0017g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0038 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0065 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0066 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0073 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0074 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0084 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0197 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0002g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0006g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0006g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0006g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0009g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0009g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0002t0011g0124 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0003t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0003t0001g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0003t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0003t0001g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0003t0001g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0003t0001g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0003t0003g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0003t0012g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0003t0016g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0004t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0004t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0004t0001g0182 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0004t0001g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0004t0001g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0004t0001g0233 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0004t0001g0240 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0004t0001g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0004t0001g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0005t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0005t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0005t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0005t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0005t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0006t0002g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0006t0002g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0008t0003g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0010t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0012t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0013t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0014t0002g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0016t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0017t0001g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0020t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0001c0021t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0002c0007t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0003c0009t0001g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0004c0022t0001g0189 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0005c0018t0001g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0006c0019t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0007c0015t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0008c0011t0002g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| a0009c0023t0004g0206 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0004 | g0230 | EUR | GBR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00140 | hp2 | a0001 | c0002 | t0011 | g0124 | EUR | GBR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00280 | hp1 | a0009 | c0023 | t0004 | g0206 | EUR | FIN | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0247 | EUR | FIN | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00323 | hp1 | a0001 | c0004 | t0001 | g0233 | EUR | FIN | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00323 | hp2 | a0001 | c0002 | t0002 | g0084 | EUR | FIN | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0070 | EAS | CHS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00408 | hp2 | a0001 | c0001 | t0010 | g0029 | EAS | CHS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | CHS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00423 | hp2 | a0001 | c0013 | t0001 | g0225 | EAS | CHS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0224 | EAS | CHS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0215 | EAS | CHS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0220 | EAS | CHS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00544 | hp2 | a0001 | c0001 | t0003 | g0017 | EAS | CHS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00558 | hp1 | a0001 | c0002 | t0002 | g0056 | EAS | CHS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0234 | EAS | CHS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0071 | EAS | CHS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00597 | hp2 | a0001 | c0001 | t0003 | g0015 | EAS | CHS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | CHS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00621 | hp2 | a0002 | c0007 | t0002 | g0088 | EAS | CHS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00639 | hp1 | a0001 | c0001 | t0004 | g0239 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00639 | hp2 | a0001 | c0006 | t0002 | g0036 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00642 | hp1 | a0001 | c0001 | t0003 | g0023 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00642 | hp2 | a0001 | c0001 | t0008 | g0005 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0170 | EAS | CHS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0238 | EAS | CHS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0102 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00733 | hp2 | a0001 | c0001 | t0004 | g0183 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00735 | hp1 | a0001 | c0001 | t0004 | g0210 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00735 | hp2 | a0001 | c0004 | t0001 | g0242 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00741 | hp1 | a0001 | c0002 | t0002 | g0085 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0227 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01071 | hp1 | a0001 | c0006 | t0002 | g0037 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01071 | hp2 | a0001 | c0001 | t0005 | g0144 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01074 | hp1 | a0001 | c0002 | t0002 | g0075 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0159 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01081 | hp1 | a0001 | c0002 | t0006 | g0008 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01081 | hp2 | a0001 | c0001 | t0004 | g0207 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0100 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01168 | hp2 | a0001 | c0002 | t0002 | g0119 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01175 | hp1 | a0001 | c0008 | t0003 | g0019 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01175 | hp2 | a0001 | c0001 | t0004 | g0068 | AMR | PUR | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0243 | AMR | CLM | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01255 | hp2 | a0001 | c0004 | t0001 | g0244 | AMR | CLM | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01261 | hp1 | a0001 | c0001 | t0006 | g0013 | AMR | CLM | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01261 | hp2 | a0001 | c0004 | t0001 | g0067 | AMR | CLM | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01346 | hp1 | a0001 | c0001 | t0005 | g0042 | AMR | CLM | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01346 | hp2 | a0001 | c0002 | t0002 | g0078 | AMR | CLM | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01358 | hp1 | a0001 | c0004 | t0001 | g0211 | AMR | CLM | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01358 | hp2 | a0001 | c0001 | t0004 | g0187 | AMR | CLM | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01433 | hp1 | a0001 | c0001 | t0004 | g0040 | AMR | CLM | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01433 | hp2 | a0001 | c0001 | t0003 | g0009 | AMR | CLM | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01515 | hp1 | a0001 | c0002 | t0002 | g0065 | EUR | IBS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0150 | EUR | IBS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01516 | hp1 | a0001 | c0002 | t0002 | g0074 | EUR | IBS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01516 | hp2 | a0001 | c0004 | t0001 | g0182 | EUR | IBS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01517 | hp1 | a0001 | c0002 | t0002 | g0066 | EUR | IBS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01517 | hp2 | a0001 | c0004 | t0001 | g0181 | EUR | IBS | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0191 | AMR | PEL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01943 | hp2 | a0001 | c0001 | t0005 | g0151 | AMR | PEL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01978 | hp1 | a0001 | c0001 | t0003 | g0026 | AMR | PEL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01978 | hp2 | a0001 | c0001 | t0008 | g0025 | AMR | PEL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01981 | hp1 | a0001 | c0002 | t0002 | g0054 | AMR | PEL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0172 | AMR | PEL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | KHV | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0155 | EAS | KHV | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02071 | hp1 | a0001 | c0001 | t0003 | g0020 | EAS | KHV | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02071 | hp2 | a0001 | c0001 | t0003 | g0012 | EAS | KHV | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0221 | EAS | KHV | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02074 | hp2 | a0001 | c0001 | t0003 | g0021 | EAS | KHV | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | KHV | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0142 | EAS | KHV | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02145 | hp1 | a0001 | c0001 | t0003 | g0011 | AFR | ACB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02145 | hp2 | a0001 | c0003 | t0003 | g0024 | AFR | ACB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0092 | EAS | CDX | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0143 | EAS | CDX | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0136 | AFR | ACB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0171 | AFR | ACB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02258 | hp1 | a0003 | c0009 | t0001 | g0200 | AFR | ACB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02258 | hp2 | a0001 | c0001 | t0004 | g0201 | AFR | ACB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0145 | AFR | ACB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02280 | hp2 | a0001 | c0003 | t0012 | g0110 | AFR | ACB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02293 | hp1 | a0001 | c0002 | t0002 | g0061 | AMR | PEL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02293 | hp2 | a0001 | c0001 | t0004 | g0232 | AMR | PEL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02451 | hp1 | a0001 | c0002 | t0002 | g0053 | AFR | ACB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0134 | AFR | ACB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0169 | EAS | KHV | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0229 | EAS | KHV | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0034 | AFR | GWD | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0045 | AFR | GWD | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02630 | hp1 | a0001 | c0001 | t0003 | g0014 | AFR | GWD | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0208 | AFR | GWD | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02683 | hp1 | a0004 | c0022 | t0001 | g0189 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02683 | hp2 | a0001 | c0001 | t0004 | g0241 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02698 | hp1 | a0001 | c0002 | t0002 | g0086 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02698 | hp2 | a0001 | c0004 | t0001 | g0188 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0158 | AFR | GWD | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02717 | hp2 | a0001 | c0005 | t0001 | g0095 | AFR | GWD | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02738 | hp1 | a0001 | c0001 | t0007 | g0002 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02738 | hp2 | a0001 | c0002 | t0002 | g0198 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0117 | AFR | GWD | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02809 | hp2 | a0001 | c0001 | t0017 | g0254 | AFR | GWD | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02895 | hp1 | a0001 | c0003 | t0001 | g0185 | AFR | GWD | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0101 | AFR | GWD | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0115 | AFR | ESN | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02922 | hp2 | a0001 | c0005 | t0001 | g0097 | AFR | ESN | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03017 | hp1 | a0001 | c0002 | t0002 | g0076 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0216 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03130 | hp1 | a0007 | c0015 | t0001 | g0033 | AFR | ESN | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03130 | hp2 | a0001 | c0003 | t0001 | g0126 | AFR | ESN | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0162 | AFR | ESN | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0165 | AFR | ESN | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0228 | AFR | ESN | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03195 | hp2 | a0001 | c0005 | t0001 | g0096 | AFR | ESN | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03209 | hp1 | a0001 | c0002 | t0002 | g0051 | AFR | MSL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03209 | hp2 | a0001 | c0005 | t0001 | g0098 | AFR | MSL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0035 | AFR | MSL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0163 | AFR | MSL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0087 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03239 | hp2 | a0001 | c0001 | t0002 | g0094 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0205 | AFR | MSL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03453 | hp2 | a0001 | c0003 | t0001 | g0250 | AFR | MSL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03492 | hp1 | a0001 | c0002 | t0002 | g0175 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03492 | hp2 | a0001 | c0001 | t0004 | g0120 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03516 | hp1 | a0001 | c0010 | t0001 | g0111 | AFR | ESN | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0251 | AFR | ESN | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03669 | hp1 | a0001 | c0002 | t0002 | g0156 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03669 | hp2 | a0001 | c0001 | t0004 | g0209 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03688 | hp1 | a0001 | c0002 | t0002 | g0197 | SAS | STU | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0219 | SAS | STU | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0236 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03704 | hp2 | a0001 | c0002 | t0002 | g0047 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03710 | hp1 | a0001 | c0001 | t0003 | g0018 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03710 | hp2 | a0001 | c0001 | t0005 | g0138 | SAS | PJL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03831 | hp1 | a0001 | c0001 | t0003 | g0007 | SAS | BEB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03831 | hp2 | a0001 | c0002 | t0009 | g0031 | SAS | BEB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03927 | hp1 | a0001 | c0001 | t0007 | g0001 | SAS | BEB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03927 | hp2 | a0001 | c0001 | t0003 | g0027 | SAS | BEB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0245 | SAS | BEB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03942 | hp2 | a0001 | c0002 | t0002 | g0058 | SAS | BEB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0141 | EAS | CHB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0192 | EAS | CHB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18939 | hp1 | a0001 | c0012 | t0001 | g0148 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18939 | hp2 | a0001 | c0002 | t0002 | g0062 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0128 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0125 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0139 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18948 | hp2 | a0001 | c0017 | t0001 | g0249 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18949 | hp1 | a0001 | c0002 | t0006 | g0010 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18949 | hp2 | a0001 | c0001 | t0001 | g0082 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18950 | hp1 | a0001 | c0002 | t0002 | g0059 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0193 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0190 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18952 | hp1 | a0001 | c0021 | t0001 | g0131 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0204 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18957 | hp2 | a0001 | c0002 | t0002 | g0116 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0194 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18959 | hp2 | a0001 | c0001 | t0001 | g0123 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0153 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18962 | hp2 | a0001 | c0001 | t0001 | g0090 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18963 | hp1 | a0001 | c0001 | t0001 | g0161 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18963 | hp2 | a0001 | c0002 | t0002 | g0060 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0179 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18964 | hp2 | a0001 | c0002 | t0002 | g0176 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18965 | hp2 | a0001 | c0002 | t0002 | g0177 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0248 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18966 | hp2 | a0001 | c0001 | t0003 | g0004 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18972 | hp1 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18972 | hp2 | a0001 | c0001 | t0003 | g0016 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18974 | hp1 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18974 | hp2 | a0001 | c0001 | t0001 | g0064 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0235 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18977 | hp2 | a0001 | c0002 | t0002 | g0072 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18979 | hp1 | a0001 | c0001 | t0001 | g0214 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18981 | hp2 | a0001 | c0002 | t0002 | g0083 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0246 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0152 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18986 | hp1 | a0001 | c0002 | t0002 | g0057 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18986 | hp2 | a0001 | c0001 | t0001 | g0137 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0226 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0108 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18992 | hp1 | a0001 | c0001 | t0014 | g0106 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18992 | hp2 | a0006 | c0019 | t0001 | g0099 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19002 | hp1 | a0001 | c0016 | t0001 | g0167 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19002 | hp2 | a0001 | c0014 | t0002 | g0079 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19005 | hp2 | a0001 | c0002 | t0002 | g0199 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19009 | hp1 | a0001 | c0002 | t0002 | g0048 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19009 | hp2 | a0001 | c0020 | t0001 | g0114 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0069 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19012 | hp2 | a0001 | c0002 | t0002 | g0237 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19030 | hp1 | a0001 | c0003 | t0001 | g0127 | AFR | LWK | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19030 | hp2 | a0001 | c0001 | t0003 | g0006 | AFR | LWK | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19043 | hp1 | a0008 | c0011 | t0002 | g0132 | AFR | LWK | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19043 | hp2 | a0001 | c0005 | t0001 | g0157 | AFR | LWK | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19057 | hp1 | a0001 | c0002 | t0002 | g0077 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0213 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19058 | hp2 | a0001 | c0002 | t0002 | g0046 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19060 | hp1 | a0001 | c0002 | t0009 | g0030 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19060 | hp2 | a0001 | c0001 | t0003 | g0028 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19064 | hp1 | a0001 | c0002 | t0002 | g0055 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19064 | hp2 | a0001 | c0001 | t0001 | g0113 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19066 | hp2 | a0001 | c0002 | t0002 | g0049 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0129 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19070 | hp1 | a0001 | c0002 | t0006 | g0022 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19070 | hp2 | a0001 | c0001 | t0001 | g0222 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19074 | hp1 | a0001 | c0002 | t0002 | g0063 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19074 | hp2 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0218 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19079 | hp2 | a0001 | c0002 | t0002 | g0081 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19080 | hp1 | a0001 | c0002 | t0002 | g0050 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19080 | hp2 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19084 | hp1 | a0001 | c0001 | t0001 | g0223 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19084 | hp2 | a0001 | c0001 | t0001 | g0212 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19087 | hp1 | a0001 | c0002 | t0002 | g0039 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0231 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0174 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA19090 | hp2 | a0001 | c0002 | t0002 | g0080 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA20752 | hp1 | a0001 | c0001 | t0004 | g0186 | EUR | TSI | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA20752 | hp2 | a0001 | c0002 | t0002 | g0073 | EUR | TSI | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA20805 | hp1 | a0001 | c0004 | t0001 | g0240 | EUR | TSI | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0196 | EUR | TSI | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0112 | AMR | CLM | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG01123 | hp2 | a0005 | c0018 | t0001 | g0217 | AMR | CLM | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0195 | AFR | ACB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0133 | AFR | ACB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02486 | hp1 | a0001 | c0001 | t0003 | g0003 | AFR | ACB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02486 | hp2 | a0001 | c0003 | t0016 | g0253 | AFR | ACB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0118 | AFR | ACB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0121 | AFR | ACB | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03471 | hp1 | a0001 | c0003 | t0001 | g0164 | AFR | MSL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG03471 | hp2 | a0001 | c0001 | t0013 | g0135 | AFR | MSL | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG06807 | hp1 | a0001 | c0002 | t0002 | g0180 | AFR | USA | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0168 | AFR | USA | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0173 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA20300 | hp1 | a0001 | c0003 | t0001 | g0140 | AFR | USA | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA20300 | hp2 | a0001 | c0001 | t0005 | g0184 | AFR | USA | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA21309 | hp1 | a0001 | c0001 | t0004 | g0202 | AFR | LWK | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| NA21309 | hp2 | a0001 | c0002 | t0002 | g0178 | AFR | LWK | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0002 | t0002 | g0038 | REF | REF | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0015 | g0252 | REF | REF | MED13L_chr12_115953576_116282693 | MED13L | chr12 | 115953576 | 116282693 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:115972200
|
G | A | 1 | a0006 | 1 | NA18992.hp2 | missense_variant | MODERATE | c.5768C>T | p.Thr1923Ile | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 26/31 | 6330/9885 | 5768/6633 | 1923/2210 | chr12 | 115972200 | ||
| chr12:115975540
|
C | T | 1 | a0005 | 1 | HG01123.hp2 | missense_variant | MODERATE | c.5563G>A | p.Val1855Ile | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 24/31 | 6125/9885 | 5563/6633 | 1855/2210 | chr12 | 115975540 | ||
| chr12:115983328
|
A | T | 1 | a0007 | 1 | HG03130.hp1 | missense_variant | MODERATE | c.4744T>A | p.Ser1582Thr | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 21/31 | 5306/9885 | 4744/6633 | 1582/2210 | chr12 | 115983328 | ||
| chr12:115984189
|
G | A | 1 | a0008 | 1 | NA19043.hp1 | missense_variant | MODERATE | c.4522C>T | p.His1508Tyr | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 20/31 | 5084/9885 | 4522/6633 | 1508/2210 | chr12 | 115984189 | ||
| chr12:115991196
|
G | A | 1 | a0004 | 1 | HG02683.hp1 | missense_variant | MODERATE | c.3758C>T | p.Thr1253Ile | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/31 | 4320/9885 | 3758/6633 | 1253/2210 | chr12 | 115991196 | ||
| chr12:116009106
|
A | G | 1 | a0003 | 1 | HG02258.hp1 | missense_variant | MODERATE | c.1307T>C | p.Val436Ala | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 10/31 | 1869/9885 | 1307/6633 | 436/2210 | chr12 | 116009106 | ||
| chr12:116009130
|
T | C | 1 | a0009 | 1 | HG00280.hp1 | missense_variant&splice_region_variant | MODERATE | c.1283A>G | p.His428Arg | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 10/31 | 1845/9885 | 1283/6633 | 428/2210 | chr12 | 116009130 | ||
| chr12:116096730
|
C | T | 1 | a0002 | 1 | HG00621.hp2 | missense_variant | MODERATE | c.418G>A | p.Val140Ile | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/31 | 980/9885 | 418/6633 | 140/2210 | chr12 | 116096730 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:115966115
|
G | A | 2 | a0001c0004a0004c0022 | 10 | HG00323.hp1 HG00735.hp2 HG01255.hp2 others(7): Show |
synonymous_variant | LOW | c.6354C>T | p.Pro2118Pro | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/31 | 6916/9885 | 6354/6633 | 2118/2210 | chr12 | 115966115 | ||
| chr12:115970706
|
G | A | 1 | a0001c0005 | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
synonymous_variant | LOW | c.5955C>T | p.Leu1985Leu | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 27/31 | 6517/9885 | 5955/6633 | 1985/2210 | chr12 | 115970706 | ||
| chr12:115970733
|
A | G | 5 | a0001c0002a0001c0006a0001c0013others(2): Show | 57 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(54): Show |
synonymous_variant | LOW | c.5928T>C | p.Thr1976Thr | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 27/31 | 6490/9885 | 5928/6633 | 1976/2210 | chr12 | 115970733 | ||
| chr12:115980830
|
G | A | 1 | a0001c0020 | 1 | NA19009.hp2 | synonymous_variant | LOW | c.5284C>T | p.Leu1762Leu | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/31 | 5846/9885 | 5284/6633 | 1762/2210 | chr12 | 115980830 | ||
| chr12:115982501
|
C | T | 1 | a0001c0017 | 1 | NA18948.hp2 | synonymous_variant | LOW | c.5058G>A | p.Thr1686Thr | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 22/31 | 5620/9885 | 5058/6633 | 1686/2210 | chr12 | 115982501 | ||
| chr12:115983314
|
C | T | 1 | a0001c0016 | 1 | NA19002.hp1 | synonymous_variant | LOW | c.4758G>A | p.Pro1586Pro | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 21/31 | 5320/9885 | 4758/6633 | 1586/2210 | chr12 | 115983314 | ||
| chr12:115983503
|
T | C | 1 | a0001c0021 | 1 | NA18952.hp1 | synonymous_variant | LOW | c.4569A>G | p.Leu1523Leu | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 21/31 | 5131/9885 | 4569/6633 | 1523/2210 | chr12 | 115983503 | ||
| chr12:115991504
|
G | A | 1 | a0001c0005 | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
synonymous_variant | LOW | c.3450C>T | p.Pro1150Pro | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/31 | 4012/9885 | 3450/6633 | 1150/2210 | chr12 | 115991504 | ||
| chr12:115991884
|
A | G | 8 | a0001c0002a0001c0006a0001c0010others(5): Show | 60 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(57): Show |
synonymous_variant | LOW | c.3070T>C | p.Leu1024Leu | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/31 | 3632/9885 | 3070/6633 | 1024/2210 | chr12 | 115991884 | ||
| chr12:116008535
|
C | T | 1 | a0001c0010 | 1 | HG03516.hp1 | synonymous_variant | LOW | c.1878G>A | p.Pro626Pro | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 10/31 | 2440/9885 | 1878/6633 | 626/2210 | chr12 | 116008535 | ||
| chr12:116008640
|
C | T | 4 | a0001c0002a0001c0006a0001c0012others(1): Show | 56 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(53): Show |
synonymous_variant | LOW | c.1773G>A | p.Gln591Gln | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 10/31 | 2335/9885 | 1773/6633 | 591/2210 | chr12 | 116008640 | ||
| chr12:116008688
|
C | T | 2 | a0001c0010a0008c0011 | 2 | HG03516.hp1 NA19043.hp1 |
synonymous_variant | LOW | c.1725G>A | p.Ser575Ser | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 10/31 | 2287/9885 | 1725/6633 | 575/2210 | chr12 | 116008688 | ||
| chr12:116015189
|
C | T | 1 | a0001c0008 | 1 | HG01175.hp1 | synonymous_variant | LOW | c.1095G>A | p.Ser365Ser | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 8/31 | 1657/9885 | 1095/6633 | 365/2210 | chr12 | 116015189 | ||
| chr12:116019285
|
C | T | 1 | a0001c0006 | 2 | HG00639.hp2 HG01071.hp1 |
synonymous_variant | LOW | c.948G>A | p.Lys316Lys | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/31 | 1510/9885 | 948/6633 | 316/2210 | chr12 | 116019285 | ||
| chr12:116022502
|
A | G | 1 | a0001c0003 | 9 | HG02145.hp2 HG02280.hp2 HG02486.hp2 others(6): Show |
synonymous_variant | LOW | c.579T>C | p.Asn193Asn | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 5/31 | 1141/9885 | 579/6633 | 193/2210 | chr12 | 116022502 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:115959283
|
A | T | 10 | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(7): Show | 59 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(56): Show |
3_prime_UTR_variant | MODIFIER | c.*1983T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 31/31 | 1983 | chr12 | 115959283 | |||||
| chr12:115959300
|
G | T | 1 | a0001c0001t0005 | 5 | HG01071.hp2 HG01346.hp1 HG01943.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1966C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 31/31 | 1966 | chr12 | 115959300 | |||||
| chr12:115959458
|
A | C | 1 | a0001c0001t0013 | 1 | HG03471.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1808T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 31/31 | 1808 | chr12 | 115959458 | |||||
| chr12:115960821
|
A | C | 3 | a0001c0001t0004a0001c0001t0008a0009c0023t0004 | 18 | HG00140.hp1 HG00280.hp1 HG00639.hp1 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*445T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 31/31 | 445 | chr12 | 115960821 | |||||
| chr12:115960846
|
A | G | 1 | a0001c0003t0012 | 1 | HG02280.hp2 | 3_prime_UTR_variant | MODIFIER | c.*420T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 31/31 | 420 | chr12 | 115960846 | |||||
| chr12:115960981
|
A | G | 1 | a0001c0003t0016 | 1 | HG02486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*285T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 31/31 | 285 | chr12 | 115960981 | |||||
| chr12:115961006
|
T | C | 1 | a0001c0001t0014 | 1 | NA18992.hp1 | 3_prime_UTR_variant | MODIFIER | c.*260A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 31/31 | 260 | chr12 | 115961006 | |||||
| chr12:115961010
|
G | T | 1 | a0001c0002t0011 | 1 | HG00140.hp2 | 3_prime_UTR_variant | MODIFIER | c.*256C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 31/31 | 256 | chr12 | 115961010 | |||||
| chr12:116277339
|
G | T | 37 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | 248 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(245): Show |
5_prime_UTR_variant | MODIFIER | c.-208C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/31 | 208 | chr12 | 116277339 | |||||
| chr12:116277340
|
C | T | 3 | a0001c0001t0007a0001c0001t0010a0001c0002t0009 | 5 | HG00408.hp2 HG02738.hp1 HG03831.hp2 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-209G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/31 | 209 | chr12 | 116277340 | |||||
| chr12:116277340
|
CG | C | 37 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | 248 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(245): Show |
5_prime_UTR_variant | MODIFIER | c.-210delC | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/31 | 210 | chr12 | 116277340 | |||||
| chr12:116277341
|
G | C | 3 | a0001c0001t0007a0001c0001t0010a0001c0002t0009 | 5 | HG00408.hp2 HG02738.hp1 HG03831.hp2 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-210C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/31 | 210 | chr12 | 116277341 | |||||
| chr12:116277345
|
G | GGCGGCCG others(112): Show |
40 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | 253 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(250): Show |
5_prime_UTR_variant | MODIFIER | c.-215_-214insGGCAGC others(113): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/31 | 215 | chr12 | 116277345 | |||||
| chr12:116277346
|
C | T | 40 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | 253 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(250): Show |
5_prime_UTR_variant | MODIFIER | c.-215G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/31 | 215 | chr12 | 116277346 | |||||
| chr12:116277484
|
G | A | 1 | a0001c0003t0016 | 1 | HG02486.hp2 | 5_prime_UTR_variant | MODIFIER | c.-353C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/31 | 353 | chr12 | 116277484 | |||||
| chr12:116277626
|
A | AC | 7 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(4): Show | 28 | HG00544.hp2 HG00597.hp2 HG00642.hp1 others(25): Show |
5_prime_UTR_variant | MODIFIER | c.-496dupG | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/31 | 496 | chr12 | 116277626 | |||||
| chr12:116277670
|
G | A | 1 | a0001c0001t0017 | 1 | HG02809.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-539C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/31 | chr12 | 116277670 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:115961559
|
C | T | 1 | a0001c0002t0002g0058 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.6501-161G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 30/30 | chr12 | 115961559 | ||||||
| chr12:115961987
|
C | A | 1 | a0001c0001t0001g0100 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.6501-589G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 30/30 | chr12 | 115961987 | ||||||
| chr12:115961987
|
C | T | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.6501-589G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 30/30 | chr12 | 115961987 | ||||||
| chr12:115962029
|
A | G | 1 | a0001c0001t0001g0149 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.6501-631T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 30/30 | chr12 | 115962029 | ||||||
| chr12:115962219
|
A | C | 55 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(52): Show | 55 | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(52): Show |
intron_variant | MODIFIER | c.6501-821T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 30/30 | chr12 | 115962219 | ||||||
| chr12:115962378
|
A | G | 58 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(55): Show |
intron_variant | MODIFIER | c.6501-980T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 30/30 | chr12 | 115962378 | ||||||
| chr12:115962413
|
G | A | 1 | a0001c0001t0003g0023 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.6500+994C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 30/30 | chr12 | 115962413 | ||||||
| chr12:115962540
|
T | C | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.6500+867A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 30/30 | chr12 | 115962540 | ||||||
| chr12:115962664
|
G | A | 1 | a0001c0001t0001g0205 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.6500+743C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 30/30 | chr12 | 115962664 | ||||||
| chr12:115962804
|
C | A | 1 | a0001c0002t0002g0198 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.6500+603G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 30/30 | chr12 | 115962804 | ||||||
| chr12:115962953
|
G | A | 22 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(19): Show | 22 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.6500+454C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 30/30 | chr12 | 115962953 | ||||||
| chr12:115963031
|
A | G | 1 | a0001c0001t0006g0013 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.6500+376T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 30/30 | chr12 | 115963031 | ||||||
| chr12:115963614
|
A | C | 1 | a0001c0001t0001g0170 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.6388-95T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/30 | chr12 | 115963614 | ||||||
| chr12:115963619
|
C | T | 1 | a0001c0005t0001g0098 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.6388-100G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/30 | chr12 | 115963619 | ||||||
| chr12:115963621
|
T | G | 1 | a0001c0001t0001g0168 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.6388-102A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/30 | chr12 | 115963621 | ||||||
| chr12:115963862
|
C | T | 1 | a0001c0003t0001g0126 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.6388-343G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/30 | chr12 | 115963862 | ||||||
| chr12:115963865
|
C | G | 1 | a0001c0003t0016g0253 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.6388-346G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/30 | chr12 | 115963865 | ||||||
| chr12:115963903
|
C | A | 3 | a0001c0003t0001g0126a0001c0003t0001g0127a0001c0003t0001g0250 | 3 | HG03130.hp2 HG03453.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.6388-384G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/30 | chr12 | 115963903 | ||||||
| chr12:115963960
|
G | A | 1 | a0001c0001t0001g0213 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.6388-441C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/30 | chr12 | 115963960 | ||||||
| chr12:115964552
|
A | G | 3 | a0001c0001t0001g0136a0001c0001t0001g0163a0001c0001t0001g0208 | 3 | HG02257.hp1 HG02630.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.6388-1033T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/30 | chr12 | 115964552 | ||||||
| chr12:115965171
|
G | A | 252 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(249): Show | 252 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(249): Show |
intron_variant | MODIFIER | c.6387+911C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/30 | chr12 | 115965171 | ||||||
| chr12:115965182
|
A | C | 11 | a0001c0001t0002g0094a0001c0001t0006g0013a0001c0003t0001g0126others(8): Show | 11 | HG01261.hp1 HG02145.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.6387+900T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/30 | chr12 | 115965182 | ||||||
| chr12:115965269
|
T | C | 4 | a0001c0001t0001g0070a0001c0001t0001g0192a0001c0001t0003g0009others(1): Show | 4 | HG00408.hp1 HG01433.hp2 HG01978.hp1 others(1): Show |
intron_variant | MODIFIER | c.6387+813A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/30 | chr12 | 115965269 | ||||||
| chr12:115965355
|
T | C | 4 | a0001c0001t0001g0142a0001c0001t0001g0154a0001c0001t0003g0004others(1): Show | 4 | HG02074.hp2 HG02083.hp2 NA18966.hp2 others(1): Show |
intron_variant | MODIFIER | c.6387+727A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/30 | chr12 | 115965355 | ||||||
| chr12:115965424
|
A | G | 4 | a0001c0001t0001g0070a0001c0001t0001g0192a0001c0001t0003g0009others(1): Show | 4 | HG00408.hp1 HG01433.hp2 HG01978.hp1 others(1): Show |
intron_variant | MODIFIER | c.6387+658T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/30 | chr12 | 115965424 | ||||||
| chr12:115965760
|
T | A | 33 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(30): Show | 33 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(30): Show |
intron_variant | MODIFIER | c.6387+322A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/30 | chr12 | 115965760 | ||||||
| chr12:115965981
|
G | C | 1 | a0008c0011t0002g0132 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6387+101C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/30 | chr12 | 115965981 | ||||||
| chr12:115965982
|
A | C | 1 | a0008c0011t0002g0132 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6387+100T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 29/30 | chr12 | 115965982 | ||||||
| chr12:115966537
|
A | G | 1 | a0001c0001t0001g0246 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.6226-294T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115966537 | ||||||
| chr12:115966566
|
A | G | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.6226-323T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115966566 | ||||||
| chr12:115966900
|
G | A | 8 | a0001c0001t0001g0082a0001c0001t0001g0190a0001c0001t0001g0203others(5): Show | 8 | NA18949.hp2 NA18951.hp1 NA18966.hp1 others(5): Show |
intron_variant | MODIFIER | c.6226-657C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115966900 | ||||||
| chr12:115967108
|
T | C | 4 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0118others(1): Show | 4 | HG02559.hp1 HG02615.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.6226-865A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115967108 | ||||||
| chr12:115967165
|
T | C | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.6226-922A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115967165 | ||||||
| chr12:115967170
|
C | CA | 70 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0044others(67): Show | 70 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(67): Show |
intron_variant | MODIFIER | c.6226-928dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115967170 | ||||||
| chr12:115967170
|
C | CAA | 32 | a0001c0001t0001g0035a0001c0001t0001g0071a0001c0001t0001g0082others(29): Show | 32 | HG00438.hp2 HG00597.hp1 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.6226-929_6226-928d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115967170 | ||||||
| chr12:115967170
|
C | CAAA | 31 | a0001c0001t0001g0136a0001c0002t0002g0038a0001c0002t0002g0039others(28): Show | 31 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(28): Show |
intron_variant | MODIFIER | c.6226-930_6226-928d others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115967170 | ||||||
| chr12:115967170
|
C | CAAAA | 24 | a0001c0001t0001g0034a0001c0002t0002g0051a0001c0002t0002g0054others(21): Show | 24 | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(21): Show |
intron_variant | MODIFIER | c.6226-931_6226-928d others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115967170 | ||||||
| chr12:115967170
|
CA | C | 7 | a0001c0001t0001g0102a0001c0001t0001g0112a0001c0005t0001g0095others(4): Show | 7 | HG00733.hp1 HG01123.hp1 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.6226-928delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115967170 | ||||||
| chr12:115967267
|
A | T | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.6226-1024T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115967267 | ||||||
| chr12:115967413
|
A | G | 1 | a0001c0005t0001g0157 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.6226-1170T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115967413 | ||||||
| chr12:115967448
|
C | G | 1 | a0001c0001t0001g0226 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.6226-1205G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115967448 | ||||||
| chr12:115968052
|
G | T | 10 | a0001c0001t0001g0179a0001c0001t0001g0220a0001c0001t0001g0221others(7): Show | 10 | HG00438.hp1 HG00544.hp1 HG00673.hp2 others(7): Show |
intron_variant | MODIFIER | c.6225+888C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115968052 | ||||||
| chr12:115968053
|
T | TC | 43 | a0001c0001t0001g0035a0001c0001t0001g0087a0001c0001t0001g0100others(40): Show | 43 | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(40): Show |
intron_variant | MODIFIER | c.6225+886dupG | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115968053 | ||||||
| chr12:115968053
|
T | TCC | 32 | a0001c0001t0001g0069a0001c0001t0001g0109a0001c0001t0001g0162others(29): Show | 32 | HG00140.hp2 HG00423.hp2 HG00639.hp1 others(29): Show |
intron_variant | MODIFIER | c.6225+885_6225+886d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115968053 | ||||||
| chr12:115968053
|
TC | T | 56 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(53): Show | 56 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(53): Show |
intron_variant | MODIFIER | c.6225+886delG | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115968053 | ||||||
| chr12:115968053
|
TCC | T | 40 | a0001c0001t0001g0034a0001c0001t0001g0043a0001c0001t0001g0044others(37): Show | 40 | HG00423.hp1 HG01071.hp2 HG01346.hp1 others(37): Show |
intron_variant | MODIFIER | c.6225+885_6225+886d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115968053 | ||||||
| chr12:115968063
|
C | T | 1 | a0001c0001t0001g0165 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.6225+877G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115968063 | ||||||
| chr12:115968069
|
A | G | 3 | a0001c0001t0001g0107a0001c0001t0001g0109a0001c0001t0001g0122 | 3 | NA18945.hp1 NA18965.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.6225+871T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115968069 | ||||||
| chr12:115968071
|
G | T | 3 | a0001c0001t0001g0107a0001c0001t0001g0109a0001c0001t0001g0122 | 3 | NA18945.hp1 NA18965.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.6225+869C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115968071 | ||||||
| chr12:115968199
|
C | G | 1 | a0001c0001t0001g0147 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.6225+741G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115968199 | ||||||
| chr12:115968302
|
T | C | 1 | a0001c0001t0001g0105 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.6225+638A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115968302 | ||||||
| chr12:115968420
|
C | T | 1 | a0001c0001t0003g0007 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.6225+520G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115968420 | ||||||
| chr12:115968920
|
G | A | 1 | a0008c0011t0002g0132 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6225+20C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 28/30 | chr12 | 115968920 | ||||||
| chr12:115969105
|
G | A | 2 | a0001c0006t0002g0036a0001c0006t0002g0037 | 2 | HG00639.hp2 HG01071.hp1 |
splice_region_variant&intron_variant | LOW | c.6068-8C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 27/30 | chr12 | 115969105 | ||||||
| chr12:115969338
|
A | G | 1 | a0001c0001t0001g0205 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.6068-241T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 27/30 | chr12 | 115969338 | ||||||
| chr12:115969519
|
G | A | 1 | a0001c0003t0001g0126 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.6068-422C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 27/30 | chr12 | 115969519 | ||||||
| chr12:115969577
|
CTCTTT | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.6068-485_6068-481d others(7): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 27/30 | chr12 | 115969577 | ||||||
| chr12:115969579
|
C | CT | 36 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(33): Show | 36 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.6068-483dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 27/30 | chr12 | 115969579 | ||||||
| chr12:115969799
|
C | T | 1 | a0001c0004t0001g0233 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.6068-702G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 27/30 | chr12 | 115969799 | ||||||
| chr12:115970452
|
A | T | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(54): Show |
intron_variant | MODIFIER | c.6067+142T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 27/30 | chr12 | 115970452 | ||||||
| chr12:115970778
|
G | T | 1 | a0001c0001t0001g0190 | 1 | NA18951.hp1 | splice_region_variant&intron_variant | LOW | c.5891-8C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 26/30 | chr12 | 115970778 | ||||||
| chr12:115971052
|
A | T | 1 | a0001c0001t0007g0001 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.5891-282T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 26/30 | chr12 | 115971052 | ||||||
| chr12:115971054
|
C | T | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5891-284G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 26/30 | chr12 | 115971054 | ||||||
| chr12:115971120
|
T | A | 1 | a0001c0001t0001g0221 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.5891-350A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 26/30 | chr12 | 115971120 | ||||||
| chr12:115971156
|
A | G | 1 | a0001c0001t0001g0052 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.5891-386T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 26/30 | chr12 | 115971156 | ||||||
| chr12:115971165
|
A | C | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.5891-395T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 26/30 | chr12 | 115971165 | ||||||
| chr12:115971419
|
G | A | 1 | a0001c0003t0001g0126 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.5891-649C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 26/30 | chr12 | 115971419 | ||||||
| chr12:115971442
|
A | C | 3 | a0001c0002t0002g0081a0001c0002t0002g0199a0001c0002t0002g0237 | 3 | NA19005.hp2 NA19012.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5890+636T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 26/30 | chr12 | 115971442 | ||||||
| chr12:115972976
|
G | A | 1 | a0001c0001t0001g0251 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.5732-740C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 25/30 | chr12 | 115972976 | ||||||
| chr12:115973073
|
G | A | 1 | a0001c0001t0001g0170 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.5732-837C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 25/30 | chr12 | 115973073 | ||||||
| chr12:115973495
|
A | G | 1 | a0001c0001t0001g0112 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.5732-1259T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 25/30 | chr12 | 115973495 | ||||||
| chr12:115973533
|
G | C | 1 | a0001c0001t0001g0089 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.5732-1297C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 25/30 | chr12 | 115973533 | ||||||
| chr12:115973674
|
T | C | 17 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(14): Show | 17 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(14): Show |
intron_variant | MODIFIER | c.5732-1438A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 25/30 | chr12 | 115973674 | ||||||
| chr12:115973757
|
C | T | 56 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(53): Show | 56 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(53): Show |
intron_variant | MODIFIER | c.5731+1414G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 25/30 | chr12 | 115973757 | ||||||
| chr12:115974178
|
C | T | 46 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(43): Show | 46 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(43): Show |
intron_variant | MODIFIER | c.5731+993G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 25/30 | chr12 | 115974178 | ||||||
| chr12:115974481
|
T | C | 1 | a0001c0001t0001g0129 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.5731+690A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 25/30 | chr12 | 115974481 | ||||||
| chr12:115974487
|
T | C | 1 | a0008c0011t0002g0132 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.5731+684A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 25/30 | chr12 | 115974487 | ||||||
| chr12:115974636
|
G | A | 4 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(1): Show | 4 | HG02083.hp1 NA18955.hp2 NA18962.hp2 others(1): Show |
intron_variant | MODIFIER | c.5731+535C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 25/30 | chr12 | 115974636 | ||||||
| chr12:115974753
|
T | C | 1 | a0008c0011t0002g0132 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.5731+418A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 25/30 | chr12 | 115974753 | ||||||
| chr12:115974874
|
C | T | 1 | a0001c0001t0003g0018 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.5731+297G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 25/30 | chr12 | 115974874 | ||||||
| chr12:115975116
|
A | T | 243 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(240): Show | 243 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(240): Show |
intron_variant | MODIFIER | c.5731+55T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 25/30 | chr12 | 115975116 | ||||||
| chr12:115975117
|
T | C | 243 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(240): Show | 243 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(240): Show |
intron_variant | MODIFIER | c.5731+54A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 25/30 | chr12 | 115975117 | ||||||
| chr12:115975149
|
T | C | 1 | a0001c0001t0007g0002 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.5731+22A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 25/30 | chr12 | 115975149 | ||||||
| chr12:115975751
|
C | T | 1 | a0001c0002t0002g0084 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.5365-13G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115975751 | ||||||
| chr12:115975807
|
A | G | 1 | a0005c0018t0001g0217 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.5365-69T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115975807 | ||||||
| chr12:115976030
|
A | G | 1 | a0001c0001t0003g0023 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.5365-292T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115976030 | ||||||
| chr12:115976068
|
T | A | 64 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(61): Show | 64 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(61): Show |
intron_variant | MODIFIER | c.5365-330A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115976068 | ||||||
| chr12:115976730
|
A | G | 1 | a0003c0009t0001g0200 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.5365-992T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115976730 | ||||||
| chr12:115976801
|
C | T | 64 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(61): Show | 64 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(61): Show |
intron_variant | MODIFIER | c.5365-1063G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115976801 | ||||||
| chr12:115977231
|
A | G | 3 | a0001c0002t0002g0081a0001c0002t0002g0199a0001c0002t0002g0237 | 3 | NA19005.hp2 NA19012.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5365-1493T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115977231 | ||||||
| chr12:115977278
|
G | A | 1 | a0001c0001t0001g0150 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.5365-1540C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115977278 | ||||||
| chr12:115977734
|
C | T | 1 | a0001c0002t0002g0062 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.5365-1996G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115977734 | ||||||
| chr12:115977928
|
C | T | 3 | a0001c0003t0001g0126a0001c0003t0001g0127a0001c0003t0001g0250 | 3 | HG03130.hp2 HG03453.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.5365-2190G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115977928 | ||||||
| chr12:115978121
|
A | G | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.5365-2383T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115978121 | ||||||
| chr12:115978122
|
T | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.5365-2384A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115978122 | ||||||
| chr12:115978326
|
C | CT | 13 | a0001c0001t0001g0112a0001c0001t0001g0223a0001c0001t0001g0251others(10): Show | 13 | HG01123.hp1 HG01175.hp1 HG01261.hp1 others(10): Show |
intron_variant | MODIFIER | c.5364+2423dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115978326 | ||||||
| chr12:115978326
|
C | T | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.5364+2424G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115978326 | ||||||
| chr12:115978563
|
G | A | 3 | a0001c0001t0001g0172a0001c0001t0001g0191a0001c0001t0001g0243 | 3 | HG01255.hp1 HG01943.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.5364+2187C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115978563 | ||||||
| chr12:115978617
|
G | A | 5 | a0001c0002t0002g0049a0001c0002t0002g0055a0001c0002t0002g0084others(2): Show | 5 | HG00323.hp2 NA19060.hp1 NA19064.hp1 others(2): Show |
intron_variant | MODIFIER | c.5364+2133C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115978617 | ||||||
| chr12:115978656
|
G | A | 1 | a0003c0009t0001g0200 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.5364+2094C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115978656 | ||||||
| chr12:115978955
|
T | G | 1 | a0007c0015t0001g0033 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.5364+1795A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115978955 | ||||||
| chr12:115979244
|
A | G | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.5364+1506T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115979244 | ||||||
| chr12:115979420
|
C | T | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.5364+1330G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115979420 | ||||||
| chr12:115979433
|
C | T | 5 | a0001c0003t0001g0140a0001c0003t0001g0164a0001c0003t0001g0185others(2): Show | 5 | HG02145.hp2 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.5364+1317G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115979433 | ||||||
| chr12:115979919
|
T | G | 11 | a0001c0001t0003g0023a0001c0004t0001g0067a0001c0004t0001g0181others(8): Show | 11 | HG00323.hp1 HG00642.hp1 HG00735.hp2 others(8): Show |
intron_variant | MODIFIER | c.5364+831A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115979919 | ||||||
| chr12:115979982
|
G | A | 2 | a0001c0001t0001g0101a0001c0001t0003g0003 | 2 | HG02486.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.5364+768C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115979982 | ||||||
| chr12:115980131
|
C | T | 3 | a0001c0001t0001g0213a0001c0001t0001g0231a0001c0001t0001g0248 | 3 | NA18966.hp1 NA19057.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.5364+619G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115980131 | ||||||
| chr12:115980235
|
C | A | 1 | a0001c0001t0001g0214 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.5364+515G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115980235 | ||||||
| chr12:115980333
|
G | A | 2 | a0001c0001t0001g0165a0001c0008t0003g0019 | 2 | HG01175.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.5364+417C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115980333 | ||||||
| chr12:115980568
|
T | C | 61 | a0001c0001t0002g0094a0001c0001t0006g0013a0001c0002t0002g0038others(58): Show | 61 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(58): Show |
intron_variant | MODIFIER | c.5364+182A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115980568 | ||||||
| chr12:115980592
|
A | T | 1 | a0002c0007t0002g0088 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.5364+158T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115980592 | ||||||
| chr12:115980615
|
C | T | 2 | a0001c0001t0001g0101a0001c0001t0003g0003 | 2 | HG02486.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.5364+135G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 23/30 | chr12 | 115980615 | ||||||
| chr12:115981212
|
C | T | 85 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(82): Show | 85 | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(82): Show |
intron_variant | MODIFIER | c.5176-274G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 22/30 | chr12 | 115981212 | ||||||
| chr12:115981412
|
T | C | 1 | a0001c0002t0002g0075 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.5176-474A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 22/30 | chr12 | 115981412 | ||||||
| chr12:115981438
|
C | T | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.5176-500G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 22/30 | chr12 | 115981438 | ||||||
| chr12:115981883
|
G | T | 1 | a0001c0004t0001g0242 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.5175+501C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 22/30 | chr12 | 115981883 | ||||||
| chr12:115981930
|
C | G | 1 | a0001c0001t0001g0222 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.5175+454G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 22/30 | chr12 | 115981930 | ||||||
| chr12:115982032
|
C | T | 1 | a0001c0001t0003g0006 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.5175+352G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 22/30 | chr12 | 115982032 | ||||||
| chr12:115982643
|
T | C | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.4956-40A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 21/30 | chr12 | 115982643 | ||||||
| chr12:115982673
|
CT | C | 4 | a0001c0003t0001g0140a0001c0003t0001g0164a0001c0003t0001g0185others(1): Show | 4 | HG02145.hp2 HG02895.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.4956-71delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 21/30 | chr12 | 115982673 | ||||||
| chr12:115982779
|
G | A | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.4956-176C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 21/30 | chr12 | 115982779 | ||||||
| chr12:115982801
|
T | C | 4 | a0001c0001t0001g0082a0001c0001t0001g0203a0001c0001t0001g0212others(1): Show | 4 | NA18949.hp2 NA19074.hp2 NA19079.hp1 others(1): Show |
intron_variant | MODIFIER | c.4956-198A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 21/30 | chr12 | 115982801 | ||||||
| chr12:115982932
|
T | A | 1 | a0003c0009t0001g0200 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4955+185A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 21/30 | chr12 | 115982932 | ||||||
| chr12:115983797
|
G | C | 3 | a0001c0001t0001g0136a0001c0001t0001g0163a0001c0001t0001g0208 | 3 | HG02257.hp1 HG02630.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.4532-257C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 20/30 | chr12 | 115983797 | ||||||
| chr12:115984382
|
T | C | 1 | a0001c0001t0001g0045 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.4339-10A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 19/30 | chr12 | 115984382 | ||||||
| chr12:115984464
|
T | A | 3 | a0001c0001t0004g0068a0001c0001t0004g0210a0009c0023t0004g0206 | 3 | HG00280.hp1 HG00735.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.4339-92A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 19/30 | chr12 | 115984464 | ||||||
| chr12:115985129
|
A | G | 1 | a0001c0002t0002g0178 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.4339-757T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 19/30 | chr12 | 115985129 | ||||||
| chr12:115985200
|
T | C | 1 | a0001c0001t0004g0207 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.4339-828A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 19/30 | chr12 | 115985200 | ||||||
| chr12:115986040
|
T | C | 2 | a0001c0001t0001g0123a0001c0001t0001g0149 | 2 | NA18952.hp2 NA18959.hp2 |
intron_variant | MODIFIER | c.4338+226A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 19/30 | chr12 | 115986040 | ||||||
| chr12:115986118
|
T | C | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.4338+148A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 19/30 | chr12 | 115986118 | ||||||
| chr12:115986666
|
CTTAA | C | 2 | a0001c0002t0002g0076a0001c0002t0002g0177 | 2 | HG03017.hp1 NA18965.hp2 |
intron_variant | MODIFIER | c.4115-181_4115-178d others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 18/30 | chr12 | 115986666 | ||||||
| chr12:115986860
|
A | G | 138 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0043others(135): Show | 138 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(135): Show |
intron_variant | MODIFIER | c.4114+249T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 18/30 | chr12 | 115986860 | ||||||
| chr12:115986993
|
A | C | 1 | a0001c0001t0004g0230 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.4114+116T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 18/30 | chr12 | 115986993 | ||||||
| chr12:115987025
|
G | A | 1 | a0001c0003t0001g0127 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4114+84C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 18/30 | chr12 | 115987025 | ||||||
| chr12:115987724
|
T | C | 1 | a0001c0001t0001g0092 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.3935-436A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115987724 | ||||||
| chr12:115987835
|
C | T | 1 | a0001c0002t0002g0048 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.3935-547G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115987835 | ||||||
| chr12:115988061
|
G | A | 1 | a0003c0009t0001g0200 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3935-773C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115988061 | ||||||
| chr12:115988215
|
G | A | 1 | a0001c0002t0002g0085 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.3935-927C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115988215 | ||||||
| chr12:115988290
|
T | G | 11 | a0001c0001t0002g0094a0001c0001t0006g0013a0001c0003t0001g0126others(8): Show | 11 | HG01261.hp1 HG02145.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.3935-1002A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115988290 | ||||||
| chr12:115989007
|
C | T | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.3935-1719G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115989007 | ||||||
| chr12:115989087
|
T | A | 1 | a0001c0002t0002g0062 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.3935-1799A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115989087 | ||||||
| chr12:115989176
|
G | A | 2 | a0001c0001t0001g0104a0001c0001t0010g0029 | 2 | HG00408.hp2 NA18946.hp1 |
intron_variant | MODIFIER | c.3934+1844C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115989176 | ||||||
| chr12:115989550
|
C | T | 3 | a0001c0002t0002g0038a0001c0002t0002g0119a0001c0002t0002g0180 | 3 | HG01168.hp2 HG06807.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.3934+1470G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115989550 | ||||||
| chr12:115989819
|
G | A | 2 | a0001c0001t0001g0041a0001c0001t0001g0129 | 2 | NA18981.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.3934+1201C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115989819 | ||||||
| chr12:115989829
|
C | G | 1 | a0001c0001t0004g0040 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.3934+1191G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115989829 | ||||||
| chr12:115990224
|
T | C | 1 | a0001c0002t0002g0046 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.3934+796A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115990224 | ||||||
| chr12:115990313
|
T | C | 1 | a0001c0001t0001g0191 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.3934+707A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115990313 | ||||||
| chr12:115990323
|
C | T | 1 | a0001c0002t0002g0198 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.3934+697G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115990323 | ||||||
| chr12:115990420
|
C | T | 1 | a0001c0004t0001g0211 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3934+600G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115990420 | ||||||
| chr12:115990478
|
T | C | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.3934+542A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115990478 | ||||||
| chr12:115990607
|
G | A | 6 | a0001c0003t0001g0140a0001c0003t0001g0164a0001c0003t0001g0185others(3): Show | 6 | HG02145.hp2 HG02280.hp2 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.3934+413C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 17/30 | chr12 | 115990607 | ||||||
| chr12:115992089
|
T | A | 1 | a0001c0001t0003g0028 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.2997-132A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115992089 | ||||||
| chr12:115992096
|
T | G | 62 | a0001c0001t0002g0094a0001c0001t0006g0013a0001c0002t0002g0038others(59): Show | 62 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(59): Show |
intron_variant | MODIFIER | c.2997-139A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115992096 | ||||||
| chr12:115992399
|
A | AT | 62 | a0001c0001t0002g0094a0001c0001t0006g0013a0001c0002t0002g0038others(59): Show | 62 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(59): Show |
intron_variant | MODIFIER | c.2997-443dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115992399 | ||||||
| chr12:115993041
|
A | G | 2 | a0001c0001t0004g0120a0001c0001t0004g0207 | 2 | HG01081.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.2997-1084T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115993041 | ||||||
| chr12:115993157
|
T | C | 9 | a0001c0002t0002g0039a0001c0002t0002g0048a0001c0002t0002g0059others(6): Show | 9 | NA18950.hp1 NA18957.hp2 NA18963.hp2 others(6): Show |
intron_variant | MODIFIER | c.2997-1200A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115993157 | ||||||
| chr12:115993710
|
A | G | 2 | a0001c0006t0002g0036a0001c0006t0002g0037 | 2 | HG00639.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.2997-1753T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115993710 | ||||||
| chr12:115993926
|
T | C | 1 | a0001c0001t0001g0150 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.2997-1969A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115993926 | ||||||
| chr12:115993949
|
C | T | 1 | a0001c0001t0001g0105 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.2997-1992G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115993949 | ||||||
| chr12:115993999
|
C | T | 12 | a0001c0001t0001g0162a0001c0003t0012g0110a0001c0004t0001g0067others(9): Show | 12 | HG00323.hp1 HG00735.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2997-2042G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115993999 | ||||||
| chr12:115994437
|
G | A | 66 | a0001c0001t0001g0034a0001c0001t0001g0041a0001c0001t0001g0052others(63): Show | 66 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(63): Show |
intron_variant | MODIFIER | c.2996+2039C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115994437 | ||||||
| chr12:115994443
|
C | T | 22 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(19): Show | 22 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.2996+2033G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115994443 | ||||||
| chr12:115994489
|
A | G | 2 | a0001c0001t0004g0183a0001c0001t0008g0005 | 2 | HG00642.hp2 HG00733.hp2 |
intron_variant | MODIFIER | c.2996+1987T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115994489 | ||||||
| chr12:115994570
|
T | C | 1 | a0001c0002t0002g0075 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.2996+1906A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115994570 | ||||||
| chr12:115994737
|
C | T | 1 | a0001c0001t0001g0117 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2996+1739G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115994737 | ||||||
| chr12:115995227
|
T | C | 1 | a0001c0001t0001g0174 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.2996+1249A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115995227 | ||||||
| chr12:115995713
|
G | A | 1 | a0001c0005t0001g0095 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2996+763C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115995713 | ||||||
| chr12:115996114
|
A | G | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2996+362T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115996114 | ||||||
| chr12:115996293
|
T | C | 1 | a0001c0001t0001g0165 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2996+183A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 16/30 | chr12 | 115996293 | ||||||
| chr12:115996788
|
G | C | 2 | a0001c0001t0001g0071a0001c0001t0001g0235 | 2 | HG00597.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.2791-107C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 15/30 | chr12 | 115996788 | ||||||
| chr12:115997304
|
A | T | 23 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(20): Show | 23 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(20): Show |
intron_variant | MODIFIER | c.2570-74T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 115997304 | ||||||
| chr12:115997433
|
G | A | 1 | a0001c0001t0001g0100 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.2570-203C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 115997433 | ||||||
| chr12:115997564
|
G | A | 9 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(6): Show | 9 | HG02257.hp1 HG02559.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.2570-334C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 115997564 | ||||||
| chr12:115997604
|
T | A | 4 | a0001c0001t0001g0158a0001c0001t0001g0159a0001c0001t0001g0168others(1): Show | 4 | HG01074.hp2 HG02109.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.2570-374A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 115997604 | ||||||
| chr12:115997642
|
G | A | 2 | a0001c0002t0002g0175a0001c0002t0002g0197 | 2 | HG03492.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.2570-412C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 115997642 | ||||||
| chr12:115997688
|
C | A | 1 | a0004c0022t0001g0189 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.2570-458G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 115997688 | ||||||
| chr12:115997724
|
T | C | 1 | a0001c0002t0002g0116 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.2570-494A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 115997724 | ||||||
| chr12:115998269
|
A | T | 8 | a0001c0001t0001g0082a0001c0001t0001g0190a0001c0001t0001g0203others(5): Show | 8 | NA18949.hp2 NA18951.hp1 NA18966.hp1 others(5): Show |
intron_variant | MODIFIER | c.2570-1039T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 115998269 | ||||||
| chr12:115998380
|
C | G | 60 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(57): Show | 60 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(57): Show |
intron_variant | MODIFIER | c.2570-1150G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 115998380 | ||||||
| chr12:115998383
|
A | C | 3 | a0001c0002t0002g0083a0001c0002t0006g0010a0001c0012t0001g0148 | 3 | NA18939.hp1 NA18949.hp1 NA18981.hp2 |
intron_variant | MODIFIER | c.2570-1153T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 115998383 | ||||||
| chr12:115999234
|
G | A | 3 | a0001c0002t0002g0051a0001c0002t0002g0178a0001c0002t0011g0124 | 3 | HG00140.hp2 HG03209.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.2570-2004C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 115999234 | ||||||
| chr12:115999281
|
G | A | 1 | a0007c0015t0001g0033 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2570-2051C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 115999281 | ||||||
| chr12:115999367
|
G | A | 2 | a0001c0002t0002g0055a0001c0002t0006g0022 | 2 | NA19064.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.2570-2137C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 115999367 | ||||||
| chr12:115999414
|
G | A | 1 | a0001c0001t0005g0042 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.2570-2184C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 115999414 | ||||||
| chr12:115999587
|
G | C | 2 | a0001c0001t0001g0223a0001c0001t0001g0238 | 2 | HG00673.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.2570-2357C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 115999587 | ||||||
| chr12:115999883
|
C | T | 1 | a0001c0002t0002g0046 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2570-2653G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 115999883 | ||||||
| chr12:116000323
|
A | G | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2569+2680T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 116000323 | ||||||
| chr12:116000329
|
G | A | 1 | a0001c0001t0001g0229 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2569+2674C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 116000329 | ||||||
| chr12:116000482
|
G | A | 53 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(50): Show | 53 | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(50): Show |
intron_variant | MODIFIER | c.2569+2521C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 116000482 | ||||||
| chr12:116000859
|
C | T | 1 | a0001c0004t0001g0233 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2569+2144G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 116000859 | ||||||
| chr12:116000889
|
G | C | 1 | a0001c0001t0001g0229 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2569+2114C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 116000889 | ||||||
| chr12:116000929
|
T | A | 2 | a0001c0002t0002g0083a0001c0002t0006g0010 | 2 | NA18949.hp1 NA18981.hp2 |
intron_variant | MODIFIER | c.2569+2074A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 116000929 | ||||||
| chr12:116001059
|
T | G | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.2569+1944A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 116001059 | ||||||
| chr12:116001423
|
C | T | 40 | a0001c0001t0001g0087a0001c0001t0001g0158a0001c0001t0001g0159others(37): Show | 40 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(37): Show |
intron_variant | MODIFIER | c.2569+1580G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 116001423 | ||||||
| chr12:116001591
|
C | G | 1 | a0001c0001t0001g0112 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.2569+1412G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 116001591 | ||||||
| chr12:116001703
|
A | G | 1 | a0001c0001t0001g0226 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.2569+1300T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 116001703 | ||||||
| chr12:116001758
|
T | C | 1 | a0001c0001t0003g0028 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.2569+1245A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 116001758 | ||||||
| chr12:116001766
|
G | A | 1 | a0001c0001t0004g0239 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.2569+1237C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 116001766 | ||||||
| chr12:116002935
|
G | A | 3 | a0001c0002t0002g0051a0001c0002t0002g0178a0001c0002t0011g0124 | 3 | HG00140.hp2 HG03209.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.2569+68C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 14/30 | chr12 | 116002935 | ||||||
| chr12:116003117
|
T | C | 2 | a0001c0002t0002g0055a0001c0002t0006g0022 | 2 | NA19064.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.2470-15A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 13/30 | chr12 | 116003117 | ||||||
| chr12:116003312
|
G | A | 1 | a0001c0002t0002g0056 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2470-210C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 13/30 | chr12 | 116003312 | ||||||
| chr12:116003497
|
C | CT | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.2470-396dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 13/30 | chr12 | 116003497 | ||||||
| chr12:116003497
|
CT | C | 35 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(32): Show | 35 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(32): Show |
intron_variant | MODIFIER | c.2470-396delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 13/30 | chr12 | 116003497 | ||||||
| chr12:116003515
|
T | G | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2470-413A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 13/30 | chr12 | 116003515 | ||||||
| chr12:116003590
|
G | T | 58 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.2470-488C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 13/30 | chr12 | 116003590 | ||||||
| chr12:116003778
|
T | C | 1 | a0001c0002t0002g0085 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.2470-676A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 13/30 | chr12 | 116003778 | ||||||
| chr12:116003786
|
C | T | 2 | a0001c0001t0001g0101a0001c0001t0003g0003 | 2 | HG02486.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.2470-684G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 13/30 | chr12 | 116003786 | ||||||
| chr12:116004082
|
A | G | 3 | a0001c0002t0002g0049a0001c0002t0002g0084a0001c0002t0009g0030 | 3 | HG00323.hp2 NA19060.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.2470-980T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 13/30 | chr12 | 116004082 | ||||||
| chr12:116004696
|
T | TC | 88 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(85): Show | 88 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(85): Show |
intron_variant | MODIFIER | c.2469+1172dupG | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 13/30 | chr12 | 116004696 | ||||||
| chr12:116004801
|
A | G | 88 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(85): Show | 88 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(85): Show |
intron_variant | MODIFIER | c.2469+1068T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 13/30 | chr12 | 116004801 | ||||||
| chr12:116004917
|
G | C | 1 | a0001c0004t0001g0211 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2469+952C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 13/30 | chr12 | 116004917 | ||||||
| chr12:116005337
|
T | C | 3 | a0001c0002t0002g0051a0001c0002t0002g0178a0001c0002t0011g0124 | 3 | HG00140.hp2 HG03209.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.2469+532A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 13/30 | chr12 | 116005337 | ||||||
| chr12:116005658
|
A | G | 252 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(249): Show | 252 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(249): Show |
intron_variant | MODIFIER | c.2469+211T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 13/30 | chr12 | 116005658 | ||||||
| chr12:116006770
|
T | C | 1 | a0001c0001t0003g0020 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.2239-359A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 11/30 | chr12 | 116006770 | ||||||
| chr12:116006804
|
A | T | 60 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(57): Show | 60 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(57): Show |
intron_variant | MODIFIER | c.2239-393T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 11/30 | chr12 | 116006804 | ||||||
| chr12:116006806
|
C | T | 10 | a0001c0004t0001g0067a0001c0004t0001g0181a0001c0004t0001g0182others(7): Show | 10 | HG00323.hp1 HG00735.hp2 HG01255.hp2 others(7): Show |
intron_variant | MODIFIER | c.2239-395G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 11/30 | chr12 | 116006806 | ||||||
| chr12:116006958
|
A | G | 2 | a0001c0001t0001g0228a0001c0001t0003g0011 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.2238+453T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 11/30 | chr12 | 116006958 | ||||||
| chr12:116007002
|
C | T | 134 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0043others(131): Show | 134 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(131): Show |
intron_variant | MODIFIER | c.2238+409G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 11/30 | chr12 | 116007002 | ||||||
| chr12:116007294
|
C | T | 2 | a0001c0001t0001g0139a0001c0001t0001g0141 | 2 | NA18612.hp1 NA18948.hp1 |
intron_variant | MODIFIER | c.2238+117G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 11/30 | chr12 | 116007294 | ||||||
| chr12:116007645
|
C | CA | 23 | a0001c0001t0001g0035a0001c0001t0001g0082a0001c0001t0001g0149others(20): Show | 23 | HG00323.hp1 HG00642.hp2 HG00733.hp2 others(20): Show |
intron_variant | MODIFIER | c.2013-10dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 10/30 | chr12 | 116007645 | ||||||
| chr12:116007645
|
C | CAA | 55 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0047others(52): Show | 55 | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(52): Show |
intron_variant | MODIFIER | c.2013-11_2013-10dup others(2): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 10/30 | chr12 | 116007645 | ||||||
| chr12:116007645
|
CA | C | 18 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0108others(15): Show | 18 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(15): Show |
intron_variant | MODIFIER | c.2013-10delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 10/30 | chr12 | 116007645 | ||||||
| chr12:116008186
|
A | G | 1 | a0001c0001t0001g0045 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2012+215T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 10/30 | chr12 | 116008186 | ||||||
| chr12:116008251
|
T | C | 3 | a0001c0002t0002g0083a0001c0002t0006g0010a0001c0012t0001g0148 | 3 | NA18939.hp1 NA18949.hp1 NA18981.hp2 |
intron_variant | MODIFIER | c.2012+150A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 10/30 | chr12 | 116008251 | ||||||
| chr12:116008342
|
T | C | 1 | a0001c0001t0001g0219 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2012+59A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 10/30 | chr12 | 116008342 | ||||||
| chr12:116009443
|
T | C | 1 | a0001c0001t0004g0040 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1281-311A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 9/30 | chr12 | 116009443 | ||||||
| chr12:116009729
|
C | T | 1 | a0001c0001t0001g0224 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1281-597G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 9/30 | chr12 | 116009729 | ||||||
| chr12:116009764
|
C | T | 12 | a0001c0001t0001g0162a0001c0003t0012g0110a0001c0004t0001g0067others(9): Show | 12 | HG00323.hp1 HG00735.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.1281-632G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 9/30 | chr12 | 116009764 | ||||||
| chr12:116009938
|
C | G | 2 | a0001c0001t0001g0165a0001c0008t0003g0019 | 2 | HG01175.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1281-806G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 9/30 | chr12 | 116009938 | ||||||
| chr12:116009956
|
C | T | 2 | a0001c0001t0001g0035a0001c0004t0001g0067 | 2 | HG01261.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1281-824G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 9/30 | chr12 | 116009956 | ||||||
| chr12:116010243
|
C | G | 1 | a0001c0001t0003g0023 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1281-1111G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 9/30 | chr12 | 116010243 | ||||||
| chr12:116010322
|
T | A | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1281-1190A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 9/30 | chr12 | 116010322 | ||||||
| chr12:116010330
|
A | T | 243 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(240): Show | 243 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(240): Show |
intron_variant | MODIFIER | c.1281-1198T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 9/30 | chr12 | 116010330 | ||||||
| chr12:116010553
|
T | A | 1 | a0001c0002t0002g0178 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1281-1421A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 9/30 | chr12 | 116010553 | ||||||
| chr12:116011094
|
T | C | 10 | a0001c0004t0001g0067a0001c0004t0001g0181a0001c0004t0001g0182others(7): Show | 10 | HG00323.hp1 HG00735.hp2 HG01255.hp2 others(7): Show |
intron_variant | MODIFIER | c.1280+1703A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 9/30 | chr12 | 116011094 | ||||||
| chr12:116011533
|
T | A | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.1280+1264A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 9/30 | chr12 | 116011533 | ||||||
| chr12:116012010
|
T | G | 1 | a0001c0002t0002g0074 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1280+787A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 9/30 | chr12 | 116012010 | ||||||
| chr12:116012201
|
T | C | 107 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(104): Show | 107 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(104): Show |
intron_variant | MODIFIER | c.1280+596A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 9/30 | chr12 | 116012201 | ||||||
| chr12:116012565
|
C | T | 1 | a0001c0003t0001g0126 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1280+232G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 9/30 | chr12 | 116012565 | ||||||
| chr12:116012659
|
A | G | 37 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(34): Show | 37 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(34): Show |
intron_variant | MODIFIER | c.1280+138T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 9/30 | chr12 | 116012659 | ||||||
| chr12:116012763
|
G | C | 1 | a0001c0001t0001g0235 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1280+34C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 9/30 | chr12 | 116012763 | ||||||
| chr12:116013113
|
T | G | 36 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(33): Show | 36 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.1176-212A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 8/30 | chr12 | 116013113 | ||||||
| chr12:116013215
|
C | T | 1 | a0008c0011t0002g0132 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1176-314G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 8/30 | chr12 | 116013215 | ||||||
| chr12:116013227
|
G | A | 10 | a0001c0001t0001g0179a0001c0001t0001g0220a0001c0001t0001g0221others(7): Show | 10 | HG00438.hp1 HG00544.hp1 HG00673.hp2 others(7): Show |
intron_variant | MODIFIER | c.1176-326C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 8/30 | chr12 | 116013227 | ||||||
| chr12:116013338
|
G | A | 1 | a0001c0002t0002g0078 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1176-437C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 8/30 | chr12 | 116013338 | ||||||
| chr12:116013343
|
T | C | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1176-442A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 8/30 | chr12 | 116013343 | ||||||
| chr12:116013518
|
A | G | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.1176-617T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 8/30 | chr12 | 116013518 | ||||||
| chr12:116013576
|
C | T | 1 | a0001c0008t0003g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1176-675G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 8/30 | chr12 | 116013576 | ||||||
| chr12:116013901
|
A | AGTT | 10 | a0001c0001t0003g0011a0001c0003t0001g0126a0001c0003t0001g0127others(7): Show | 10 | HG02145.hp1 HG02145.hp2 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.1176-1003_1176-100 others(7): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 8/30 | chr12 | 116013901 | ||||||
| chr12:116014018
|
T | A | 1 | a0001c0016t0001g0167 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.1175+1091A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 8/30 | chr12 | 116014018 | ||||||
| chr12:116014279
|
G | A | 3 | a0001c0003t0001g0126a0001c0003t0001g0127a0001c0003t0001g0250 | 3 | HG03130.hp2 HG03453.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1175+830C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 8/30 | chr12 | 116014279 | ||||||
| chr12:116014558
|
A | C | 48 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(45): Show | 48 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(45): Show |
intron_variant | MODIFIER | c.1175+551T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 8/30 | chr12 | 116014558 | ||||||
| chr12:116014685
|
A | T | 1 | a0001c0003t0001g0140 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1175+424T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 8/30 | chr12 | 116014685 | ||||||
| chr12:116014770
|
T | C | 5 | a0001c0001t0005g0042a0001c0001t0005g0138a0001c0001t0005g0144others(2): Show | 5 | HG01071.hp2 HG01346.hp1 HG01943.hp2 others(2): Show |
intron_variant | MODIFIER | c.1175+339A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 8/30 | chr12 | 116014770 | ||||||
| chr12:116014883
|
A | G | 5 | a0001c0002t0002g0054a0001c0002t0002g0058a0001c0002t0002g0061others(2): Show | 5 | HG01981.hp1 HG02293.hp1 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.1175+226T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 8/30 | chr12 | 116014883 | ||||||
| chr12:116015306
|
T | C | 1 | a0001c0001t0001g0101 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1010-32A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116015306 | ||||||
| chr12:116015337
|
G | T | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1010-63C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116015337 | ||||||
| chr12:116015416
|
A | G | 1 | a0001c0001t0001g0234 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1010-142T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116015416 | ||||||
| chr12:116015968
|
TTATAAA | T | 17 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(14): Show | 17 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(14): Show |
intron_variant | MODIFIER | c.1010-700_1010-695d others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116015968 | ||||||
| chr12:116016171
|
T | C | 1 | a0001c0001t0001g0229 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1010-897A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116016171 | ||||||
| chr12:116016191
|
C | T | 2 | a0001c0001t0001g0134a0001c0001t0001g0171 | 2 | HG02257.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.1010-917G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116016191 | ||||||
| chr12:116016356
|
G | A | 1 | a0001c0002t0002g0080 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.1010-1082C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116016356 | ||||||
| chr12:116016441
|
A | G | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1010-1167T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116016441 | ||||||
| chr12:116016725
|
C | G | 1 | a0001c0001t0001g0117 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1010-1451G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116016725 | ||||||
| chr12:116017107
|
TTG | T | 2 | a0001c0006t0002g0036a0001c0006t0002g0037 | 2 | HG00639.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.1010-1835_1010-183 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116017107 | ||||||
| chr12:116017136
|
G | A | 2 | a0001c0001t0001g0228a0001c0001t0003g0011 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1010-1862C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116017136 | ||||||
| chr12:116017142
|
A | G | 2 | a0001c0001t0001g0043a0001c0001t0001g0174 | 2 | HG00423.hp1 NA19088.hp2 |
intron_variant | MODIFIER | c.1010-1868T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116017142 | ||||||
| chr12:116017309
|
T | G | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.1009+1915A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116017309 | ||||||
| chr12:116017637
|
A | G | 1 | a0001c0001t0001g0154 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.1009+1587T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116017637 | ||||||
| chr12:116017708
|
A | T | 61 | a0001c0001t0002g0094a0001c0001t0006g0013a0001c0002t0002g0038others(58): Show | 61 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(58): Show |
intron_variant | MODIFIER | c.1009+1516T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116017708 | ||||||
| chr12:116018224
|
A | G | 5 | a0001c0002t0002g0048a0001c0002t0002g0059a0001c0002t0002g0063others(2): Show | 5 | NA18950.hp1 NA18964.hp2 NA18965.hp2 others(2): Show |
intron_variant | MODIFIER | c.1009+1000T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116018224 | ||||||
| chr12:116018640
|
A | C | 60 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(57): Show | 60 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(57): Show |
intron_variant | MODIFIER | c.1009+584T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116018640 | ||||||
| chr12:116018738
|
C | T | 1 | a0001c0001t0001g0170 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1009+486G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116018738 | ||||||
| chr12:116018852
|
G | A | 1 | a0001c0001t0001g0219 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1009+372C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116018852 | ||||||
| chr12:116018906
|
A | C | 1 | a0001c0001t0004g0207 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1009+318T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116018906 | ||||||
| chr12:116018908
|
A | C | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1009+316T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116018908 | ||||||
| chr12:116018912
|
C | A | 1 | a0001c0002t0006g0010 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.1009+312G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116018912 | ||||||
| chr12:116018912
|
C | CA | 90 | a0001c0001t0001g0032a0001c0001t0001g0082a0001c0001t0001g0101others(87): Show | 90 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(87): Show |
intron_variant | MODIFIER | c.1009+311dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116018912 | ||||||
| chr12:116019212
|
G | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.1009+12C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 7/30 | chr12 | 116019212 | ||||||
| chr12:116019579
|
A | C | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.821-167T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 6/30 | chr12 | 116019579 | ||||||
| chr12:116019580
|
T | C | 3 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097 | 3 | HG02717.hp2 HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.821-168A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 6/30 | chr12 | 116019580 | ||||||
| chr12:116019999
|
T | G | 6 | a0001c0001t0004g0186a0001c0001t0004g0202a0001c0001t0004g0232others(3): Show | 6 | HG00639.hp1 HG01978.hp2 HG02293.hp2 others(3): Show |
intron_variant | MODIFIER | c.626-27A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 5/30 | chr12 | 116019999 | ||||||
| chr12:116020125
|
A | T | 1 | a0001c0004t0001g0188 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.626-153T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 5/30 | chr12 | 116020125 | ||||||
| chr12:116020228
|
T | C | 1 | a0001c0001t0001g0161 | 1 | NA18963.hp1 | intron_variant | MODIFIER | c.626-256A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 5/30 | chr12 | 116020228 | ||||||
| chr12:116020302
|
GAAATA | G | 35 | a0001c0001t0001g0087a0001c0001t0001g0158a0001c0001t0001g0159others(32): Show | 35 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(32): Show |
intron_variant | MODIFIER | c.626-335_626-331del others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 5/30 | chr12 | 116020302 | ||||||
| chr12:116021075
|
T | C | 1 | a0001c0002t0002g0178 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.626-1103A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 5/30 | chr12 | 116021075 | ||||||
| chr12:116021612
|
C | T | 1 | a0001c0002t0002g0072 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.625+844G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 5/30 | chr12 | 116021612 | ||||||
| chr12:116022203
|
T | G | 1 | a0001c0001t0003g0017 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.625+253A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 5/30 | chr12 | 116022203 | ||||||
| chr12:116022251
|
C | T | 1 | a0001c0002t0002g0086 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.625+205G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 5/30 | chr12 | 116022251 | ||||||
| chr12:116022265
|
G | A | 1 | a0001c0001t0001g0153 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.625+191C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 5/30 | chr12 | 116022265 | ||||||
| chr12:116022415
|
G | A | 2 | a0001c0001t0001g0101a0001c0001t0003g0003 | 2 | HG02486.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.625+41C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 5/30 | chr12 | 116022415 | ||||||
| chr12:116022825
|
T | C | 1 | a0001c0002t0006g0008 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.480-224A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116022825 | ||||||
| chr12:116022902
|
T | C | 3 | a0001c0002t0002g0081a0001c0002t0002g0199a0001c0002t0002g0237 | 3 | NA19005.hp2 NA19012.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.480-301A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116022902 | ||||||
| chr12:116023022
|
A | G | 1 | a0001c0002t0002g0156 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.480-421T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116023022 | ||||||
| chr12:116023055
|
A | C | 1 | a0001c0003t0016g0253 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.480-454T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116023055 | ||||||
| chr12:116023158
|
C | T | 14 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0118others(11): Show | 14 | HG00639.hp2 HG01071.hp1 HG01168.hp2 others(11): Show |
intron_variant | MODIFIER | c.480-557G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116023158 | ||||||
| chr12:116023312
|
C | T | 2 | a0001c0001t0001g0045a0001c0001t0001g0145 | 2 | HG02280.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.480-711G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116023312 | ||||||
| chr12:116023536
|
T | C | 35 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(32): Show | 35 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(32): Show |
intron_variant | MODIFIER | c.480-935A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116023536 | ||||||
| chr12:116023550
|
C | CA | 17 | a0001c0001t0001g0087a0001c0001t0001g0179a0001c0001t0001g0219others(14): Show | 17 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(14): Show |
intron_variant | MODIFIER | c.480-950dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116023550 | ||||||
| chr12:116023796
|
T | G | 9 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(6): Show | 9 | HG02257.hp1 HG02559.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.480-1195A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116023796 | ||||||
| chr12:116023905
|
C | T | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.480-1304G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116023905 | ||||||
| chr12:116024044
|
G | C | 1 | a0001c0001t0001g0100 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.480-1443C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024044 | ||||||
| chr12:116024230
|
T | C | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.480-1629A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024230 | ||||||
| chr12:116024769
|
G | A | 9 | a0001c0002t0002g0039a0001c0002t0002g0048a0001c0002t0002g0059others(6): Show | 9 | NA18950.hp1 NA18957.hp2 NA18963.hp2 others(6): Show |
intron_variant | MODIFIER | c.480-2168C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024769 | ||||||
| chr12:116024770
|
GGGC | G | 54 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(51): Show | 54 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(51): Show |
intron_variant | MODIFIER | c.480-2172_480-2170d others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024770 | ||||||
| chr12:116024773
|
C | CG | 37 | a0001c0001t0001g0035a0001c0001t0001g0089a0001c0001t0001g0091others(34): Show | 37 | HG00140.hp1 HG00597.hp2 HG00733.hp2 others(34): Show |
intron_variant | MODIFIER | c.480-2173dupC | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024773 | ||||||
| chr12:116024773
|
C | CGG | 43 | a0001c0001t0001g0034a0001c0001t0001g0052a0001c0001t0001g0064others(40): Show | 43 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(40): Show |
intron_variant | MODIFIER | c.480-2174_480-2173d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024773 | ||||||
| chr12:116024773
|
C | CGGG | 29 | a0001c0001t0001g0044a0001c0001t0001g0115a0001c0001t0001g0118others(26): Show | 29 | HG00544.hp1 HG00642.hp2 HG00673.hp2 others(26): Show |
intron_variant | MODIFIER | c.480-2175_480-2173d others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024773 | ||||||
| chr12:116024773
|
C | CGGGG | 27 | a0001c0001t0001g0041a0001c0001t0001g0045a0001c0001t0001g0104others(24): Show | 27 | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(24): Show |
intron_variant | MODIFIER | c.480-2176_480-2173d others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024773 | ||||||
| chr12:116024773
|
C | CGGGGG | 20 | a0001c0001t0001g0043a0001c0001t0001g0129a0001c0001t0001g0141others(17): Show | 20 | HG00408.hp2 HG00423.hp1 HG00642.hp1 others(17): Show |
intron_variant | MODIFIER | c.480-2177_480-2173d others(7): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024773 | ||||||
| chr12:116024773
|
C | CGGGGGGG others(3): Show |
1 | a0001c0001t0001g0125 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.480-2182_480-2173d others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024773 | ||||||
| chr12:116024773
|
C | CGGGGGGG others(4): Show |
2 | a0001c0001t0001g0105a0001c0001t0001g0122 | 2 | NA18951.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.480-2183_480-2173d others(13): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024773 | ||||||
| chr12:116024773
|
C | CGGGGGGG others(5): Show |
2 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | HG00733.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.480-2184_480-2173d others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024773 | ||||||
| chr12:116024773
|
C | CGGGGGGG others(6): Show |
2 | a0001c0001t0003g0016a0001c0001t0014g0106 | 2 | NA18972.hp2 NA18992.hp1 |
intron_variant | MODIFIER | c.480-2185_480-2173d others(15): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024773 | ||||||
| chr12:116024773
|
C | CGGGGGGG others(7): Show |
1 | a0001c0001t0001g0032 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.480-2173_480-2172i others(16): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024773 | ||||||
| chr12:116024773
|
C | CGGGGGGG others(8): Show |
1 | a0001c0001t0001g0108 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.480-2173_480-2172i others(17): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024773 | ||||||
| chr12:116024773
|
C | CGGGGGGG others(10): Show |
1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.480-2173_480-2172i others(19): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024773 | ||||||
| chr12:116024773
|
C | CGGGGGGG others(12): Show |
1 | a0001c0001t0001g0112 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.480-2173_480-2172i others(21): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024773 | ||||||
| chr12:116024777
|
G | C | 3 | a0001c0002t0002g0058a0001c0002t0006g0010a0002c0007t0002g0088 | 3 | HG00621.hp2 HG03942.hp2 NA18949.hp1 |
intron_variant | MODIFIER | c.480-2176C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024777 | ||||||
| chr12:116024778
|
G | C | 54 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(51): Show | 54 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(51): Show |
intron_variant | MODIFIER | c.480-2177C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024778 | ||||||
| chr12:116024781
|
G | T | 1 | a0001c0001t0001g0226 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.480-2180C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024781 | ||||||
| chr12:116024796
|
T | TGTATTTA others(2): Show |
57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.480-2196_480-2195i others(11): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024796 | ||||||
| chr12:116024895
|
G | C | 55 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(52): Show | 55 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(52): Show |
intron_variant | MODIFIER | c.480-2294C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024895 | ||||||
| chr12:116024924
|
C | G | 1 | a0001c0001t0001g0215 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.480-2323G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116024924 | ||||||
| chr12:116025053
|
T | C | 3 | a0001c0001t0004g0068a0001c0001t0004g0210a0009c0023t0004g0206 | 3 | HG00280.hp1 HG00735.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.480-2452A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116025053 | ||||||
| chr12:116025119
|
T | C | 22 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(19): Show | 22 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.480-2518A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116025119 | ||||||
| chr12:116025444
|
T | C | 1 | a0001c0001t0003g0018 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.480-2843A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116025444 | ||||||
| chr12:116026050
|
G | A | 53 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(50): Show | 53 | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(50): Show |
intron_variant | MODIFIER | c.480-3449C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116026050 | ||||||
| chr12:116026385
|
A | C | 21 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0104others(18): Show | 21 | HG00408.hp2 HG00423.hp1 HG02015.hp2 others(18): Show |
intron_variant | MODIFIER | c.480-3784T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116026385 | ||||||
| chr12:116026600
|
A | ATGC | 37 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(34): Show | 37 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(34): Show |
intron_variant | MODIFIER | c.480-4002_480-4000d others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116026600 | ||||||
| chr12:116026625
|
C | T | 1 | a0001c0001t0001g0052 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.480-4024G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116026625 | ||||||
| chr12:116026641
|
T | C | 2 | a0001c0002t0002g0055a0001c0002t0006g0022 | 2 | NA19064.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.480-4040A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116026641 | ||||||
| chr12:116027092
|
C | CA | 203 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(200): Show | 203 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(200): Show |
intron_variant | MODIFIER | c.480-4492dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116027092 | ||||||
| chr12:116027092
|
CATGTGGC others(37): Show |
C | 1 | a0001c0001t0001g0112 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.480-4535_480-4492d others(46): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116027092 | ||||||
| chr12:116027113
|
G | C | 1 | a0001c0001t0001g0100 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.480-4512C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116027113 | ||||||
| chr12:116027239
|
T | C | 1 | a0001c0001t0014g0106 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.480-4638A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116027239 | ||||||
| chr12:116027420
|
A | G | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.480-4819T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116027420 | ||||||
| chr12:116027460
|
T | G | 1 | a0001c0001t0001g0112 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.480-4859A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116027460 | ||||||
| chr12:116027519
|
C | T | 1 | a0001c0001t0001g0112 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.480-4918G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116027519 | ||||||
| chr12:116027655
|
C | T | 1 | a0001c0001t0001g0165 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.480-5054G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116027655 | ||||||
| chr12:116027669
|
G | T | 86 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(83): Show | 86 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(83): Show |
intron_variant | MODIFIER | c.480-5068C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116027669 | ||||||
| chr12:116027895
|
A | G | 1 | a0001c0001t0001g0166 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.480-5294T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116027895 | ||||||
| chr12:116028106
|
T | C | 27 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(24): Show | 27 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(24): Show |
intron_variant | MODIFIER | c.480-5505A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116028106 | ||||||
| chr12:116028236
|
T | C | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.480-5635A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116028236 | ||||||
| chr12:116028273
|
T | G | 1 | a0001c0001t0001g0112 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.480-5672A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116028273 | ||||||
| chr12:116028379
|
T | A | 1 | a0001c0001t0001g0112 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.480-5778A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116028379 | ||||||
| chr12:116028383
|
A | G | 2 | a0001c0003t0001g0127a0001c0003t0001g0250 | 2 | HG03453.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.480-5782T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116028383 | ||||||
| chr12:116028661
|
T | A | 4 | a0001c0001t0004g0186a0001c0001t0004g0232a0001c0001t0004g0241others(1): Show | 4 | HG01978.hp2 HG02293.hp2 HG02683.hp2 others(1): Show |
intron_variant | MODIFIER | c.480-6060A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116028661 | ||||||
| chr12:116028763
|
G | A | 5 | a0001c0001t0005g0042a0001c0001t0005g0138a0001c0001t0005g0144others(2): Show | 5 | HG01071.hp2 HG01346.hp1 HG01943.hp2 others(2): Show |
intron_variant | MODIFIER | c.480-6162C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116028763 | ||||||
| chr12:116028977
|
A | G | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.480-6376T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116028977 | ||||||
| chr12:116028998
|
C | T | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.480-6397G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116028998 | ||||||
| chr12:116029117
|
G | C | 243 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(240): Show | 243 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(240): Show |
intron_variant | MODIFIER | c.480-6516C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116029117 | ||||||
| chr12:116029245
|
GA | G | 237 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(234): Show | 237 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(234): Show |
intron_variant | MODIFIER | c.480-6645delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116029245 | ||||||
| chr12:116029257
|
A | G | 5 | a0001c0001t0001g0121a0001c0001t0003g0011a0001c0001t0003g0023others(2): Show | 5 | HG00642.hp1 HG02145.hp1 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.480-6656T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116029257 | ||||||
| chr12:116029370
|
A | AT | 60 | a0001c0001t0001g0044a0001c0002t0002g0038a0001c0002t0002g0039others(57): Show | 60 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(57): Show |
intron_variant | MODIFIER | c.480-6770dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116029370 | ||||||
| chr12:116029429
|
C | A | 1 | a0001c0001t0001g0247 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.480-6828G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116029429 | ||||||
| chr12:116029564
|
T | C | 1 | a0001c0001t0014g0106 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.480-6963A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116029564 | ||||||
| chr12:116029716
|
T | A | 2 | a0001c0001t0001g0101a0001c0001t0003g0003 | 2 | HG02486.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.480-7115A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116029716 | ||||||
| chr12:116029755
|
T | C | 55 | a0001c0001t0001g0044a0001c0002t0002g0038a0001c0002t0002g0039others(52): Show | 55 | HG00140.hp2 HG00558.hp1 HG00621.hp2 others(52): Show |
intron_variant | MODIFIER | c.480-7154A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116029755 | ||||||
| chr12:116029802
|
A | G | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.480-7201T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116029802 | ||||||
| chr12:116029955
|
T | C | 42 | a0001c0001t0001g0087a0001c0001t0001g0158a0001c0001t0001g0159others(39): Show | 42 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(39): Show |
intron_variant | MODIFIER | c.480-7354A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116029955 | ||||||
| chr12:116030069
|
G | GTGATTCT others(57): Show |
1 | a0001c0001t0001g0112 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.480-7469_480-7468i others(66): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116030069 | ||||||
| chr12:116030117
|
G | A | 1 | a0001c0002t0002g0198 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.480-7516C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116030117 | ||||||
| chr12:116030405
|
A | G | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.480-7804T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116030405 | ||||||
| chr12:116030989
|
T | C | 1 | a0001c0001t0004g0241 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.480-8388A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116030989 | ||||||
| chr12:116031355
|
G | A | 1 | a0001c0003t0001g0127 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.480-8754C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031355 | ||||||
| chr12:116031452
|
C | T | 1 | a0001c0001t0001g0228 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.480-8851G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031452 | ||||||
| chr12:116031464
|
C | T | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.480-8863G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031464 | ||||||
| chr12:116031515
|
A | C | 1 | a0001c0010t0001g0111 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.480-8914T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031515 | ||||||
| chr12:116031617
|
A | AGGAGG | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.480-9021_480-9017d others(7): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031617 | ||||||
| chr12:116031628
|
G | A | 1 | a0007c0015t0001g0033 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.480-9027C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031628 | ||||||
| chr12:116031643
|
G | GGGGAC | 26 | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0104others(23): Show | 26 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(23): Show |
intron_variant | MODIFIER | c.480-9047_480-9043d others(7): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031643 | ||||||
| chr12:116031666
|
GAGAAAAG others(10): Show |
G | 1 | a0001c0001t0001g0112 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.480-9082_480-9066d others(19): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031666 | ||||||
| chr12:116031668
|
G | C | 12 | a0001c0001t0001g0044a0001c0001t0001g0137a0001c0001t0001g0139others(9): Show | 12 | HG02015.hp2 HG02074.hp2 HG02083.hp2 others(9): Show |
intron_variant | MODIFIER | c.480-9067C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031668 | ||||||
| chr12:116031669
|
A | G | 12 | a0001c0001t0001g0044a0001c0001t0001g0137a0001c0001t0001g0139others(9): Show | 12 | HG02015.hp2 HG02074.hp2 HG02083.hp2 others(9): Show |
intron_variant | MODIFIER | c.480-9068T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031669 | ||||||
| chr12:116031670
|
A | G | 12 | a0001c0001t0001g0044a0001c0001t0001g0137a0001c0001t0001g0139others(9): Show | 12 | HG02015.hp2 HG02074.hp2 HG02083.hp2 others(9): Show |
intron_variant | MODIFIER | c.480-9069T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031670 | ||||||
| chr12:116031671
|
A | G | 12 | a0001c0001t0001g0044a0001c0001t0001g0137a0001c0001t0001g0139others(9): Show | 12 | HG02015.hp2 HG02074.hp2 HG02083.hp2 others(9): Show |
intron_variant | MODIFIER | c.480-9070T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031671 | ||||||
| chr12:116031675
|
A | AAAAAGAA others(3): Show |
2 | a0001c0001t0001g0226a0001c0001t0001g0247 | 2 | HG00280.hp2 NA18990.hp1 |
intron_variant | MODIFIER | c.480-9084_480-9075d others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031675 | ||||||
| chr12:116031675
|
A | C | 1 | a0001c0001t0001g0251 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.480-9074T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031675 | ||||||
| chr12:116031675
|
A | G | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.480-9074T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031675 | ||||||
| chr12:116031675
|
AAAAAGAA others(3): Show |
A | 1 | a0001c0001t0003g0017 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.480-9084_480-9075d others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031675 | ||||||
| chr12:116031675
|
AAAAAGAA others(8): Show |
A | 3 | a0001c0001t0001g0100a0001c0004t0001g0181a0001c0004t0001g0182 | 3 | HG01168.hp1 HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.480-9089_480-9075d others(17): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031675 | ||||||
| chr12:116031675
|
AAAAAGAA others(23): Show |
A | 1 | a0007c0015t0001g0033 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.480-9104_480-9075d others(32): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031675 | ||||||
| chr12:116031675
|
AAAAAGAA others(33): Show |
A | 1 | a0001c0001t0001g0032 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.480-9114_480-9075d others(42): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031675 | ||||||
| chr12:116031676
|
A | G | 1 | a0001c0001t0001g0251 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.480-9075T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031676 | ||||||
| chr12:116031677
|
A | G | 1 | a0001c0001t0001g0251 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.480-9076T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031677 | ||||||
| chr12:116031678
|
A | G | 13 | a0001c0001t0001g0044a0001c0001t0001g0137a0001c0001t0001g0139others(10): Show | 13 | HG02015.hp2 HG02074.hp2 HG02083.hp2 others(10): Show |
intron_variant | MODIFIER | c.480-9077T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031678 | ||||||
| chr12:116031680
|
G | A | 12 | a0001c0001t0001g0044a0001c0001t0001g0137a0001c0001t0001g0139others(9): Show | 12 | HG02015.hp2 HG02074.hp2 HG02083.hp2 others(9): Show |
intron_variant | MODIFIER | c.480-9079C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031680 | ||||||
| chr12:116031699
|
A | AGAAAAGA others(4): Show |
3 | a0001c0001t0004g0183a0001c0001t0004g0232a0001c0001t0008g0005 | 3 | HG00642.hp2 HG00733.hp2 HG02293.hp2 |
intron_variant | MODIFIER | c.480-9109_480-9099d others(13): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031699 | ||||||
| chr12:116031704
|
A | AGAAAAG | 4 | a0001c0001t0001g0220a0001c0001t0001g0245a0001c0001t0001g0246others(1): Show | 4 | HG00544.hp1 HG02683.hp2 HG03942.hp1 others(1): Show |
intron_variant | MODIFIER | c.480-9109_480-9104d others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031704 | ||||||
| chr12:116031709
|
A | AG | 26 | a0001c0001t0001g0087a0001c0001t0001g0158a0001c0001t0001g0159others(23): Show | 26 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(23): Show |
intron_variant | MODIFIER | c.480-9109dupC | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031709 | ||||||
| chr12:116031710
|
GAAAA | G | 3 | a0001c0001t0001g0221a0001c0001t0003g0012a0001c0001t0004g0120 | 3 | HG02071.hp2 HG02074.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.480-9113_480-9110d others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031710 | ||||||
| chr12:116031717
|
AAAGAAAA others(26): Show |
A | 1 | a0001c0003t0016g0253 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.480-9149_480-9117d others(35): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031717 | ||||||
| chr12:116031725
|
GAAAAGAA others(5): Show |
G | 2 | a0001c0001t0001g0231a0001c0001t0001g0248 | 2 | NA18966.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.480-9136_480-9125d others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031725 | ||||||
| chr12:116031725
|
GAAAAGAA others(10): Show |
G | 1 | a0001c0003t0001g0164 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.480-9141_480-9125d others(19): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031725 | ||||||
| chr12:116031725
|
GAAAAGAA others(20): Show |
G | 1 | a0001c0005t0001g0097 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.480-9151_480-9125d others(29): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031725 | ||||||
| chr12:116031727
|
AAAGAAAA others(6): Show |
A | 1 | a0001c0002t0002g0076 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.480-9139_480-9127d others(15): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031727 | ||||||
| chr12:116031727
|
AAAGAAAA others(16): Show |
A | 1 | a0001c0001t0001g0146 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.480-9149_480-9127d others(25): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031727 | ||||||
| chr12:116031729
|
AGAAAAGA others(31): Show |
A | 1 | a0001c0003t0001g0127 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.480-9166_480-9129d others(40): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031729 | ||||||
| chr12:116031730
|
GAA | G | 3 | a0001c0001t0001g0172a0001c0001t0001g0191a0001c0004t0001g0244 | 3 | HG01255.hp2 HG01943.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.480-9131_480-9130d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031730 | ||||||
| chr12:116031730
|
GAAAAGAA others(4): Show |
G | 3 | a0001c0002t0002g0053a0001c0002t0002g0074a0001c0002t0002g0075 | 3 | HG01074.hp1 HG01516.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.480-9140_480-9130d others(13): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031730 | ||||||
| chr12:116031730
|
GAAAAGAA others(5): Show |
G | 2 | a0001c0001t0001g0136a0001c0003t0001g0185 | 2 | HG02257.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.480-9141_480-9130d others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031730 | ||||||
| chr12:116031730
|
GAAAAGAA others(15): Show |
G | 3 | a0001c0001t0001g0165a0001c0003t0001g0140a0001c0017t0001g0249 | 3 | HG03139.hp2 NA18948.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.480-9151_480-9130d others(24): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031730 | ||||||
| chr12:116031730
|
GAAAAGAA others(19): Show |
G | 4 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0005t0001g0095others(1): Show | 4 | HG00597.hp2 HG02717.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.480-9155_480-9130d others(28): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031730 | ||||||
| chr12:116031732
|
AAAG | A | 4 | a0001c0002t0002g0050a0001c0002t0002g0199a0001c0002t0006g0008others(1): Show | 4 | HG01081.hp1 HG03516.hp1 NA19005.hp2 others(1): Show |
intron_variant | MODIFIER | c.480-9134_480-9132d others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031732 | ||||||
| chr12:116031732
|
AAAGAAAA others(11): Show |
A | 3 | a0001c0001t0001g0192a0001c0002t0002g0061a0001c0008t0003g0019 | 3 | HG01175.hp1 HG02293.hp1 NA18612.hp2 |
intron_variant | MODIFIER | c.480-9149_480-9132d others(20): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031732 | ||||||
| chr12:116031733
|
A | G | 1 | a0001c0001t0001g0243 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.480-9132T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031733 | ||||||
| chr12:116031733
|
AAGAAAAG others(15): Show |
A | 1 | a0001c0002t0002g0198 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.480-9154_480-9133d others(24): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031733 | ||||||
| chr12:116031735
|
G | A | 1 | a0001c0001t0001g0243 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.480-9134C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031735 | ||||||
| chr12:116031735
|
GAA | G | 5 | a0001c0001t0001g0082a0001c0001t0001g0117a0001c0001t0001g0203others(2): Show | 5 | HG02809.hp1 NA18949.hp2 NA19057.hp2 others(2): Show |
intron_variant | MODIFIER | c.480-9136_480-9135d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031735 | ||||||
| chr12:116031735
|
GAAAAGA | G | 3 | a0001c0002t0002g0073a0001c0002t0002g0077a0001c0002t0002g0119 | 3 | HG01168.hp2 NA19057.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.480-9140_480-9135d others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031735 | ||||||
| chr12:116031735
|
GAAAAGAA | G | 3 | a0001c0001t0001g0064a0001c0001t0001g0130a0001c0001t0003g0020 | 3 | HG00621.hp1 HG02071.hp1 NA18974.hp2 |
intron_variant | MODIFIER | c.480-9141_480-9135d others(9): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031735 | ||||||
| chr12:116031735
|
GAAAAGAA others(10): Show |
G | 2 | a0001c0001t0001g0134a0005c0018t0001g0217 | 2 | HG01123.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.480-9151_480-9135d others(19): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031735 | ||||||
| chr12:116031735
|
GAAAAGAA others(14): Show |
G | 5 | a0001c0001t0001g0103a0001c0001t0001g0107a0001c0001t0001g0109others(2): Show | 5 | HG01358.hp1 NA18945.hp1 NA18965.hp1 others(2): Show |
intron_variant | MODIFIER | c.480-9155_480-9135d others(23): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031735 | ||||||
| chr12:116031736
|
A | G | 6 | a0001c0001t0001g0143a0001c0001t0001g0172a0001c0001t0001g0191others(3): Show | 6 | HG01255.hp1 HG01255.hp2 HG01943.hp1 others(3): Show |
intron_variant | MODIFIER | c.480-9135T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031736 | ||||||
| chr12:116031737
|
A | AGG | 5 | a0001c0001t0001g0069a0001c0001t0001g0071a0001c0001t0001g0234others(2): Show | 5 | HG00558.hp2 HG00597.hp1 HG02145.hp2 others(2): Show |
intron_variant | MODIFIER | c.480-9137_480-9136i others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031737 | ||||||
| chr12:116031737
|
A | G | 7 | a0001c0001t0001g0243a0001c0002t0002g0050a0001c0002t0002g0056others(4): Show | 7 | HG00558.hp1 HG01081.hp1 HG01255.hp1 others(4): Show |
intron_variant | MODIFIER | c.480-9136T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031737 | ||||||
| chr12:116031737
|
AAAGAAAA others(6): Show |
A | 4 | a0001c0001t0001g0161a0001c0001t0001g0216a0001c0002t0002g0039others(1): Show | 4 | HG01346.hp2 HG03017.hp2 NA18963.hp1 others(1): Show |
intron_variant | MODIFIER | c.480-9149_480-9137d others(15): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031737 | ||||||
| chr12:116031738
|
A | G | 1 | a0001c0001t0001g0218 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.480-9137T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031738 | ||||||
| chr12:116031738
|
AAGAAAAG others(10): Show |
A | 1 | a0001c0001t0003g0011 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.480-9154_480-9138d others(19): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031738 | ||||||
| chr12:116031738
|
AAGAAAAG others(22): Show |
A | 1 | a0001c0003t0001g0250 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.480-9166_480-9138d others(31): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031738 | ||||||
| chr12:116031739
|
A | G | 5 | a0001c0001t0001g0143a0001c0001t0001g0172a0001c0001t0001g0191others(2): Show | 5 | HG01255.hp2 HG01943.hp1 HG01981.hp2 others(2): Show |
intron_variant | MODIFIER | c.480-9138T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031739 | ||||||
| chr12:116031739
|
AGAAAAGA others(17): Show |
A | 3 | a0001c0001t0001g0092a0001c0001t0003g0009a0001c0004t0001g0067 | 3 | HG01261.hp2 HG01433.hp2 HG02165.hp1 |
intron_variant | MODIFIER | c.480-9162_480-9139d others(26): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031739 | ||||||
| chr12:116031740
|
G | A | 1 | a0001c0001t0001g0218 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.480-9139C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031740 | ||||||
| chr12:116031740
|
GA | G | 7 | a0001c0002t0002g0038a0001c0002t0002g0046a0001c0002t0002g0065others(4): Show | 7 | HG00323.hp2 HG01515.hp1 HG01517.hp1 others(4): Show |
intron_variant | MODIFIER | c.480-9140delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031740 | ||||||
| chr12:116031740
|
GAA | G | 6 | a0001c0001t0001g0041a0001c0001t0001g0070a0001c0001t0001g0143others(3): Show | 6 | HG00408.hp1 HG01255.hp2 HG01943.hp1 others(3): Show |
intron_variant | MODIFIER | c.480-9141_480-9140d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031740 | ||||||
| chr12:116031740
|
GAAAAGAA others(5): Show |
G | 2 | a0001c0001t0001g0133a0001c0001t0003g0026 | 2 | HG01978.hp1 HG02109.hp2 |
intron_variant | MODIFIER | c.480-9151_480-9140d others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031740 | ||||||
| chr12:116031740
|
GAAAAGAA others(9): Show |
G | 3 | a0001c0001t0001g0171a0001c0002t0011g0124a0003c0009t0001g0200 | 3 | HG00140.hp2 HG02257.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.480-9155_480-9140d others(18): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031740 | ||||||
| chr12:116031741
|
A | G | 22 | a0001c0001t0001g0069a0001c0001t0001g0071a0001c0001t0001g0082others(19): Show | 22 | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(19): Show |
intron_variant | MODIFIER | c.480-9140T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031741 | ||||||
| chr12:116031742
|
A | AGG | 5 | a0001c0001t0001g0129a0001c0001t0001g0194a0001c0001t0001g0204others(2): Show | 5 | HG03831.hp1 NA18957.hp1 NA18959.hp1 others(2): Show |
intron_variant | MODIFIER | c.480-9142_480-9141i others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031742 | ||||||
| chr12:116031742
|
A | G | 4 | a0001c0001t0001g0218a0001c0001t0007g0001a0001c0002t0002g0076others(1): Show | 4 | HG00741.hp1 HG03017.hp1 HG03927.hp1 others(1): Show |
intron_variant | MODIFIER | c.480-9141T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031742 | ||||||
| chr12:116031742
|
AAAGAAAA others(1): Show |
A | 5 | a0001c0001t0001g0035a0001c0001t0001g0169a0001c0002t0002g0086others(2): Show | 5 | HG02523.hp1 HG02698.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.480-9149_480-9142d others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031742 | ||||||
| chr12:116031743
|
AAGAAAAG others(5): Show |
A | 1 | a0001c0002t0002g0054 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.480-9154_480-9143d others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031743 | ||||||
| chr12:116031744
|
A | G | 21 | a0001c0001t0001g0069a0001c0001t0001g0071a0001c0001t0001g0082others(18): Show | 21 | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(18): Show |
intron_variant | MODIFIER | c.480-9143T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031744 | ||||||
| chr12:116031744
|
AGAAAAGA others(12): Show |
A | 3 | a0001c0004t0001g0233a0001c0004t0001g0240a0001c0004t0001g0242 | 3 | HG00323.hp1 HG00735.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.480-9162_480-9144d others(21): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031744 | ||||||
| chr12:116031744
|
AGAAAAGA others(16): Show |
A | 2 | a0001c0001t0001g0152a0001c0003t0001g0126 | 2 | HG03130.hp2 NA18984.hp2 |
intron_variant | MODIFIER | c.480-9166_480-9144d others(25): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031744 | ||||||
| chr12:116031745
|
GA | G | 5 | a0001c0001t0001g0123a0001c0001t0001g0139a0001c0001t0001g0159others(2): Show | 5 | HG01074.hp2 HG03688.hp1 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.480-9145delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031745 | ||||||
| chr12:116031745
|
GAAAAGAA | G | 4 | a0001c0001t0001g0121a0001c0001t0001g0229a0001c0001t0001g0243others(1): Show | 4 | HG01255.hp1 HG02523.hp2 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.480-9151_480-9145d others(9): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031745 | ||||||
| chr12:116031745
|
GAAAAGAA others(4): Show |
G | 2 | a0001c0001t0001g0163a0001c0001t0002g0094 | 2 | HG03225.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.480-9155_480-9145d others(13): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031745 | ||||||
| chr12:116031746
|
A | AAAG | 3 | a0001c0001t0001g0168a0001c0002t0002g0057a0001c0005t0001g0157 | 3 | HG06807.hp2 NA18986.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.480-9146_480-9145i others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031746 | ||||||
| chr12:116031746
|
A | G | 22 | a0001c0001t0001g0041a0001c0001t0001g0064a0001c0001t0001g0070others(19): Show | 22 | HG00408.hp1 HG00621.hp1 HG00741.hp1 others(19): Show |
intron_variant | MODIFIER | c.480-9145T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031746 | ||||||
| chr12:116031747
|
AAAG | A | 40 | a0001c0001t0001g0034a0001c0001t0001g0069a0001c0001t0001g0071others(37): Show | 40 | HG00323.hp2 HG00438.hp2 HG00558.hp1 others(37): Show |
intron_variant | MODIFIER | c.480-9149_480-9147d others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031747 | ||||||
| chr12:116031749
|
A | G | 30 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0064others(27): Show | 30 | HG00408.hp1 HG00423.hp1 HG00621.hp1 others(27): Show |
intron_variant | MODIFIER | c.480-9148T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031749 | ||||||
| chr12:116031750
|
GAA | G | 28 | a0001c0001t0001g0041a0001c0001t0001g0064a0001c0001t0001g0070others(25): Show | 28 | HG00408.hp1 HG00621.hp1 HG00741.hp1 others(25): Show |
intron_variant | MODIFIER | c.480-9151_480-9150d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031750 | ||||||
| chr12:116031751
|
A | G | 41 | a0001c0001t0001g0034a0001c0001t0001g0069a0001c0001t0001g0071others(38): Show | 41 | HG00323.hp2 HG00438.hp2 HG00558.hp1 others(38): Show |
intron_variant | MODIFIER | c.480-9150T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031751 | ||||||
| chr12:116031752
|
A | AAG | 3 | a0001c0002t0002g0059a0001c0002t0002g0063a0001c0002t0002g0080 | 3 | NA18950.hp1 NA19074.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.480-9152_480-9151i others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031752 | ||||||
| chr12:116031752
|
A | AAGAAGG | 4 | a0001c0001t0001g0228a0001c0002t0002g0072a0001c0002t0002g0116others(1): Show | 4 | HG03195.hp1 NA18957.hp2 NA18964.hp2 others(1): Show |
intron_variant | MODIFIER | c.480-9152_480-9151i others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031752 | ||||||
| chr12:116031752
|
A | AAGAAGGA others(3): Show |
3 | a0001c0001t0001g0149a0001c0002t0002g0058a0001c0002t0006g0010 | 3 | HG03942.hp2 NA18949.hp1 NA18952.hp2 |
intron_variant | MODIFIER | c.480-9152_480-9151i others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031752 | ||||||
| chr12:116031752
|
A | AGAAGGAA others(10): Show |
1 | a0001c0001t0001g0160 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.480-9152_480-9151i others(19): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031752 | ||||||
| chr12:116031752
|
A | AGG | 21 | a0001c0001t0001g0043a0001c0001t0001g0123a0001c0001t0001g0137others(18): Show | 21 | HG00423.hp1 HG00735.hp1 HG01074.hp2 others(18): Show |
intron_variant | MODIFIER | c.480-9152_480-9151i others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031752 | ||||||
| chr12:116031752
|
A | AGGAAGG | 4 | a0001c0001t0001g0052a0001c0001t0001g0128a0001c0001t0001g0170others(1): Show | 4 | HG00673.hp1 HG02015.hp1 NA18945.hp2 others(1): Show |
intron_variant | MODIFIER | c.480-9152_480-9151i others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031752 | ||||||
| chr12:116031752
|
A | AGGAAGGA others(3): Show |
2 | a0001c0001t0001g0166a0006c0019t0001g0099 | 2 | NA18972.hp1 NA18992.hp2 |
intron_variant | MODIFIER | c.480-9152_480-9151i others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031752 | ||||||
| chr12:116031752
|
A | AGGAAGGA others(7): Show |
1 | a0001c0001t0001g0101 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.480-9152_480-9151i others(16): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031752 | ||||||
| chr12:116031752
|
A | G | 55 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0069others(52): Show | 55 | HG00323.hp2 HG00438.hp2 HG00558.hp1 others(52): Show |
intron_variant | MODIFIER | c.480-9151T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031752 | ||||||
| chr12:116031755
|
GA | G | 3 | a0001c0001t0001g0125a0001c0001t0004g0120a0001c0001t0007g0002 | 3 | HG02738.hp1 HG03492.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.480-9155delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031755 | ||||||
| chr12:116031756
|
A | AAAGAAGG | 6 | a0001c0001t0001g0045a0001c0001t0010g0029a0001c0002t0002g0048others(3): Show | 6 | HG00408.hp2 HG02615.hp2 NA18965.hp2 others(3): Show |
intron_variant | MODIFIER | c.480-9156_480-9155i others(9): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031756 | ||||||
| chr12:116031756
|
A | AAAGAAGG others(4): Show |
4 | a0001c0001t0001g0174a0001c0002t0002g0083a0001c0002t0006g0022others(1): Show | 4 | HG00621.hp2 NA18981.hp2 NA19070.hp1 others(1): Show |
intron_variant | MODIFIER | c.480-9156_480-9155i others(13): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031756 | ||||||
| chr12:116031756
|
A | AAAGAAGG others(8): Show |
1 | a0001c0002t0002g0180 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.480-9156_480-9155i others(17): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031756 | ||||||
| chr12:116031756
|
A | AAGG | 3 | a0001c0001t0004g0068a0001c0001t0004g0209a0001c0001t0014g0106 | 3 | HG01175.hp2 HG03669.hp2 NA18992.hp1 |
intron_variant | MODIFIER | c.480-9156_480-9155i others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031756 | ||||||
| chr12:116031756
|
A | AAGGAAGG | 3 | a0001c0001t0001g0118a0001c0001t0003g0003a0001c0001t0005g0184 | 3 | HG02486.hp1 HG02559.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.480-9156_480-9155i others(9): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031756 | ||||||
| chr12:116031756
|
A | AAGGAAGG others(4): Show |
2 | a0001c0001t0001g0115a0001c0001t0004g0207 | 2 | HG01081.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.480-9156_480-9155i others(13): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031756 | ||||||
| chr12:116031756
|
A | AAGGAAGG others(8): Show |
4 | a0001c0001t0001g0104a0001c0001t0001g0141a0001c0001t0001g0214others(1): Show | 4 | HG00140.hp1 NA18612.hp1 NA18946.hp1 others(1): Show |
intron_variant | MODIFIER | c.480-9156_480-9155i others(17): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031756 | ||||||
| chr12:116031756
|
A | G | 138 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0041others(135): Show | 138 | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(135): Show |
intron_variant | MODIFIER | c.480-9155T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031756 | ||||||
| chr12:116031759
|
A | AGAAAAGA others(21): Show |
1 | a0001c0001t0008g0025 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.480-9159_480-9158i others(30): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
A | AGAAAAGA others(25): Show |
1 | a0001c0001t0017g0254 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.480-9159_480-9158i others(34): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
A | AGAAAAGA others(24): Show |
1 | a0001c0002t0002g0049 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.480-9159_480-9158i others(33): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
A | AGAAAAGA others(16): Show |
1 | a0001c0001t0001g0224 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.480-9159_480-9158i others(25): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
A | AGAAAAGA others(32): Show |
1 | a0001c0001t0004g0202 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.480-9159_480-9158i others(41): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
A | AGAAAAGA others(11): Show |
1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.480-9159_480-9158i others(20): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
A | AGAAAAGA others(11): Show |
1 | a0001c0001t0001g0227 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.480-9159_480-9158i others(20): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
A | AGAAAAGA others(15): Show |
1 | a0001c0001t0005g0144 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.480-9159_480-9158i others(24): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
A | AGAAAAGA others(14): Show |
1 | a0001c0002t0009g0030 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.480-9159_480-9158i others(23): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
A | AGAAAGAA others(5): Show |
2 | a0001c0001t0001g0147a0001c0006t0002g0037 | 2 | HG01071.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.480-9159_480-9158i others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
A | AGAAAGAA others(9): Show |
1 | a0001c0002t0002g0175 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.480-9159_480-9158i others(18): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
A | AGAAG | 11 | a0001c0001t0001g0087a0001c0001t0001g0102a0001c0001t0001g0105others(8): Show | 11 | HG00544.hp1 HG00673.hp2 HG00733.hp1 others(8): Show |
intron_variant | MODIFIER | c.480-9162_480-9159d others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
A | AGAAGGAA others(1): Show |
11 | a0001c0001t0001g0112a0001c0001t0001g0196a0001c0001t0001g0246others(8): Show | 11 | HG00280.hp1 HG00423.hp2 HG00642.hp2 others(8): Show |
intron_variant | MODIFIER | c.480-9166_480-9159d others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
A | AGAAGGAA others(5): Show |
4 | a0001c0001t0001g0222a0001c0001t0001g0245a0001c0002t0002g0051others(1): Show | 4 | HG02683.hp1 HG03209.hp1 HG03942.hp1 others(1): Show |
intron_variant | MODIFIER | c.480-9170_480-9159d others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
A | AGAAGGAA others(9): Show |
1 | a0001c0001t0004g0239 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.480-9174_480-9159d others(18): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
A | AGAAGGAA others(13): Show |
1 | a0001c0001t0004g0201 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.480-9178_480-9159d others(22): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
A | G | 177 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0041others(174): Show | 177 | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(174): Show |
intron_variant | MODIFIER | c.480-9158T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031759
|
AGAAGGAA others(5): Show |
A | 1 | a0001c0001t0001g0173 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.480-9170_480-9159d others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031759 | ||||||
| chr12:116031760
|
G | GAAAAGAA others(4): Show |
1 | a0001c0001t0001g0093 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.480-9160_480-9159i others(13): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031760 | ||||||
| chr12:116031763
|
G | A | 4 | a0001c0001t0001g0089a0001c0001t0001g0091a0001c0001t0001g0093others(1): Show | 4 | HG02083.hp1 NA18955.hp2 NA18979.hp2 others(1): Show |
intron_variant | MODIFIER | c.480-9162C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031763 | ||||||
| chr12:116031767
|
G | A | 1 | a0001c0001t0001g0113 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.480-9166C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031767 | ||||||
| chr12:116031949
|
T | C | 1 | a0001c0003t0003g0024 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.480-9348A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116031949 | ||||||
| chr12:116032179
|
C | T | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.480-9578G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116032179 | ||||||
| chr12:116032356
|
T | C | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.480-9755A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116032356 | ||||||
| chr12:116032404
|
G | A | 1 | a0001c0001t0001g0160 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.480-9803C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116032404 | ||||||
| chr12:116032439
|
C | A | 1 | a0001c0013t0001g0225 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.480-9838G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116032439 | ||||||
| chr12:116032809
|
A | T | 1 | a0001c0001t0001g0203 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.480-10208T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116032809 | ||||||
| chr12:116033071
|
T | C | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(56): Show |
intron_variant | MODIFIER | c.480-10470A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116033071 | ||||||
| chr12:116033090
|
T | A | 1 | a0001c0001t0001g0219 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.480-10489A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116033090 | ||||||
| chr12:116033090
|
TA | T | 58 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.480-10490delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116033090 | ||||||
| chr12:116033091
|
A | T | 3 | a0001c0003t0001g0126a0001c0003t0001g0127a0001c0003t0001g0250 | 3 | HG03130.hp2 HG03453.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.480-10490T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116033091 | ||||||
| chr12:116033187
|
C | A | 2 | a0001c0001t0001g0087a0001c0001t0001g0236 | 2 | HG03239.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.480-10586G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116033187 | ||||||
| chr12:116033187
|
C | T | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.480-10586G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116033187 | ||||||
| chr12:116033675
|
G | A | 10 | a0001c0001t0001g0179a0001c0001t0001g0220a0001c0001t0001g0221others(7): Show | 10 | HG00438.hp1 HG00544.hp1 HG00673.hp2 others(7): Show |
intron_variant | MODIFIER | c.480-11074C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116033675 | ||||||
| chr12:116033747
|
A | AGT | 4 | a0001c0002t0002g0051a0001c0002t0002g0178a0001c0002t0011g0124others(1): Show | 4 | HG00140.hp2 HG03209.hp1 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.480-11148_480-1114 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116033747 | ||||||
| chr12:116033747
|
A | AGTGT | 55 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(52): Show | 55 | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(52): Show |
intron_variant | MODIFIER | c.480-11150_480-1114 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116033747 | ||||||
| chr12:116033878
|
G | A | 1 | a0002c0007t0002g0088 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.480-11277C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116033878 | ||||||
| chr12:116033922
|
C | G | 1 | a0001c0002t0006g0008 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.480-11321G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116033922 | ||||||
| chr12:116035069
|
G | A | 2 | a0001c0002t0002g0051a0001c0002t0002g0178 | 2 | HG03209.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.480-12468C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116035069 | ||||||
| chr12:116035341
|
CAAT | C | 56 | a0001c0001t0001g0034a0001c0001t0001g0041a0001c0001t0001g0052others(53): Show | 56 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(53): Show |
intron_variant | MODIFIER | c.480-12743_480-1274 others(7): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116035341 | ||||||
| chr12:116035420
|
T | A | 1 | a0001c0010t0001g0111 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.480-12819A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116035420 | ||||||
| chr12:116035599
|
A | T | 1 | a0001c0004t0001g0240 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.480-12998T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116035599 | ||||||
| chr12:116035603
|
T | A | 56 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(53): Show | 56 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(53): Show |
intron_variant | MODIFIER | c.480-13002A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116035603 | ||||||
| chr12:116035647
|
G | A | 22 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(19): Show | 22 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.480-13046C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116035647 | ||||||
| chr12:116035779
|
C | T | 4 | a0001c0001t0004g0183a0001c0001t0004g0187a0001c0001t0004g0209others(1): Show | 4 | HG00642.hp2 HG00733.hp2 HG01358.hp2 others(1): Show |
intron_variant | MODIFIER | c.480-13178G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116035779 | ||||||
| chr12:116036190
|
A | G | 1 | a0001c0002t0009g0031 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.480-13589T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116036190 | ||||||
| chr12:116036384
|
T | C | 2 | a0001c0017t0001g0249a0005c0018t0001g0217 | 2 | HG01123.hp2 NA18948.hp2 |
intron_variant | MODIFIER | c.480-13783A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116036384 | ||||||
| chr12:116036548
|
C | A | 201 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(198): Show | 201 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(198): Show |
intron_variant | MODIFIER | c.480-13947G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116036548 | ||||||
| chr12:116037144
|
A | G | 1 | a0001c0001t0008g0025 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.480-14543T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116037144 | ||||||
| chr12:116037196
|
T | C | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(56): Show |
intron_variant | MODIFIER | c.480-14595A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116037196 | ||||||
| chr12:116037204
|
C | T | 1 | a0001c0001t0001g0090 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.480-14603G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116037204 | ||||||
| chr12:116037387
|
T | C | 3 | a0001c0001t0001g0113a0001c0001t0001g0153a0001c0020t0001g0114 | 3 | NA18962.hp1 NA19009.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.480-14786A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116037387 | ||||||
| chr12:116037481
|
G | A | 1 | a0001c0001t0001g0219 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.480-14880C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116037481 | ||||||
| chr12:116037489
|
C | A | 3 | a0001c0001t0001g0052a0001c0001t0001g0160a0006c0019t0001g0099 | 3 | HG02015.hp1 NA18992.hp2 NA19087.hp2 |
intron_variant | MODIFIER | c.480-14888G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116037489 | ||||||
| chr12:116038041
|
T | C | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.480-15440A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038041 | ||||||
| chr12:116038112
|
T | C | 1 | a0001c0021t0001g0131 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.480-15511A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038112 | ||||||
| chr12:116038132
|
A | G | 1 | a0001c0010t0001g0111 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.480-15531T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038132 | ||||||
| chr12:116038172
|
C | CT | 16 | a0001c0001t0001g0100a0001c0001t0001g0226a0001c0001t0003g0003others(13): Show | 16 | HG00639.hp2 HG01071.hp1 HG01168.hp1 others(13): Show |
intron_variant | MODIFIER | c.480-15572dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038172 | ||||||
| chr12:116038207
|
G | A | 2 | a0001c0005t0001g0095a0001c0005t0001g0097 | 2 | HG02717.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.480-15606C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038207 | ||||||
| chr12:116038633
|
A | G | 2 | a0001c0002t0002g0083a0001c0002t0006g0010 | 2 | NA18949.hp1 NA18981.hp2 |
intron_variant | MODIFIER | c.480-16032T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038633 | ||||||
| chr12:116038744
|
C | CA | 39 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(36): Show | 39 | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(36): Show |
intron_variant | MODIFIER | c.480-16144dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
C | CAA | 21 | a0001c0001t0001g0035a0001c0001t0001g0090a0001c0001t0001g0103others(18): Show | 21 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(18): Show |
intron_variant | MODIFIER | c.480-16145_480-1614 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
C | CAAAAA | 9 | a0001c0001t0001g0123a0001c0001t0001g0139a0001c0001t0001g0145others(6): Show | 9 | HG00408.hp2 HG02280.hp1 HG03710.hp2 others(6): Show |
intron_variant | MODIFIER | c.480-16148_480-1614 others(9): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
C | CAAAAAA | 8 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(5): Show | 8 | HG00423.hp1 HG01071.hp2 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.480-16149_480-1614 others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
C | CAAAAAAA | 6 | a0001c0001t0001g0104a0001c0001t0001g0137a0001c0001t0001g0141others(3): Show | 6 | NA18612.hp1 NA18946.hp1 NA18952.hp2 others(3): Show |
intron_variant | MODIFIER | c.480-16150_480-1614 others(11): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
C | CAAAAAAA others(1): Show |
6 | a0001c0001t0001g0113a0001c0001t0001g0150a0001c0001t0001g0153others(3): Show | 6 | HG01515.hp2 HG02738.hp1 NA18955.hp1 others(3): Show |
intron_variant | MODIFIER | c.480-16151_480-1614 others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
C | CAAAAAAA others(4): Show |
1 | a0001c0001t0001g0154 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.480-16154_480-1614 others(15): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
C | CAAAAAAA others(5): Show |
2 | a0001c0001t0001g0142a0001c0001t0003g0021 | 2 | HG02074.hp2 HG02083.hp2 |
intron_variant | MODIFIER | c.480-16155_480-1614 others(16): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
C | CAAAAAAA others(6): Show |
1 | a0001c0001t0003g0004 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.480-16156_480-1614 others(17): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
C | CAAAAAAA others(7): Show |
1 | a0001c0001t0001g0134 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.480-16157_480-1614 others(18): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
C | CAAAAAAA others(9): Show |
1 | a0001c0001t0001g0171 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.480-16159_480-1614 others(20): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
C | CAAAAAAA others(10): Show |
1 | a0001c0001t0001g0133 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.480-16160_480-1614 others(21): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
C | CAAAAAAA others(12): Show |
1 | a0001c0001t0013g0135 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.480-16162_480-1614 others(23): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
C | CAAAAAAA others(14): Show |
1 | a0001c0001t0001g0251 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.480-16164_480-1614 others(25): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
CA | C | 38 | a0001c0001t0001g0034a0001c0001t0001g0070a0001c0001t0001g0115others(35): Show | 38 | HG00408.hp1 HG00438.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.480-16144delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
CAAAA | C | 14 | a0001c0002t0002g0046a0001c0002t0002g0048a0001c0002t0002g0051others(11): Show | 14 | HG00140.hp2 HG00323.hp2 HG01168.hp2 others(11): Show |
intron_variant | MODIFIER | c.480-16147_480-1614 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
CAAAAA | C | 40 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0047others(37): Show | 40 | HG00558.hp1 HG00639.hp2 HG00741.hp1 others(37): Show |
intron_variant | MODIFIER | c.480-16148_480-1614 others(9): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
CAAAAAAA | C | 5 | a0001c0001t0001g0121a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02559.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.480-16150_480-1614 others(11): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
CAAAAAAA others(3): Show |
C | 1 | a0001c0001t0006g0013 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.480-16153_480-1614 others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
CAAAAAAA others(4): Show |
C | 11 | a0001c0001t0001g0243a0001c0001t0003g0023a0001c0004t0001g0067others(8): Show | 11 | HG00323.hp1 HG00642.hp1 HG00735.hp2 others(8): Show |
intron_variant | MODIFIER | c.480-16154_480-1614 others(15): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038744
|
CAAAAAAA others(7): Show |
C | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.480-16157_480-1614 others(18): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038744 | ||||||
| chr12:116038809
|
T | TGCAGCCT others(23): Show |
1 | a0001c0001t0001g0093 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.480-16238_480-1620 others(34): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038809 | ||||||
| chr12:116038902
|
A | AT | 6 | a0001c0001t0001g0160a0001c0001t0001g0235a0001c0005t0001g0095others(3): Show | 6 | HG02717.hp2 HG02922.hp2 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.480-16302dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038902 | ||||||
| chr12:116038911
|
T | C | 1 | a0001c0001t0003g0015 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.480-16310A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038911 | ||||||
| chr12:116038920
|
G | A | 1 | a0001c0001t0003g0017 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.480-16319C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116038920 | ||||||
| chr12:116039193
|
C | G | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(56): Show |
intron_variant | MODIFIER | c.480-16592G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116039193 | ||||||
| chr12:116039398
|
T | C | 1 | a0001c0001t0004g0209 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.480-16797A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116039398 | ||||||
| chr12:116039776
|
A | G | 9 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(6): Show | 9 | HG02257.hp1 HG02559.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.480-17175T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116039776 | ||||||
| chr12:116039893
|
T | C | 2 | a0001c0001t0001g0101a0001c0001t0003g0003 | 2 | HG02486.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.480-17292A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116039893 | ||||||
| chr12:116039902
|
T | C | 1 | a0001c0001t0001g0224 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.480-17301A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116039902 | ||||||
| chr12:116040088
|
C | T | 3 | a0001c0002t0002g0049a0001c0002t0002g0084a0001c0002t0009g0030 | 3 | HG00323.hp2 NA19060.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.480-17487G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116040088 | ||||||
| chr12:116040115
|
G | A | 1 | a0001c0002t0002g0051 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.480-17514C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116040115 | ||||||
| chr12:116040795
|
C | CA | 6 | a0001c0001t0001g0136a0001c0002t0002g0178a0001c0002t0011g0124others(3): Show | 6 | HG00140.hp2 HG02257.hp1 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.480-18195dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116040795 | ||||||
| chr12:116040795
|
CA | C | 13 | a0001c0001t0001g0145a0001c0001t0001g0162a0001c0001t0001g0243others(10): Show | 13 | HG00735.hp2 HG01255.hp1 HG01261.hp2 others(10): Show |
intron_variant | MODIFIER | c.480-18195delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116040795 | ||||||
| chr12:116040922
|
T | A | 1 | a0001c0002t0002g0077 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.480-18321A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116040922 | ||||||
| chr12:116041145
|
A | C | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.480-18544T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116041145 | ||||||
| chr12:116041252
|
G | A | 1 | a0001c0001t0004g0040 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.480-18651C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116041252 | ||||||
| chr12:116041254
|
G | A | 1 | a0001c0001t0004g0040 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.480-18653C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116041254 | ||||||
| chr12:116041428
|
G | A | 1 | a0001c0004t0001g0240 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.480-18827C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116041428 | ||||||
| chr12:116041571
|
G | A | 2 | a0001c0001t0001g0163a0001c0001t0001g0208 | 2 | HG02630.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.480-18970C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116041571 | ||||||
| chr12:116041616
|
G | A | 2 | a0001c0001t0003g0009a0001c0001t0003g0026 | 2 | HG01433.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.480-19015C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116041616 | ||||||
| chr12:116041950
|
A | T | 1 | a0001c0001t0003g0018 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.480-19349T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116041950 | ||||||
| chr12:116041976
|
A | G | 60 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(57): Show | 60 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(57): Show |
intron_variant | MODIFIER | c.480-19375T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116041976 | ||||||
| chr12:116042227
|
G | C | 2 | a0001c0001t0001g0045a0001c0001t0001g0145 | 2 | HG02280.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.480-19626C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116042227 | ||||||
| chr12:116042304
|
G | A | 1 | a0001c0020t0001g0114 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.480-19703C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116042304 | ||||||
| chr12:116042524
|
G | T | 48 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(45): Show | 48 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(45): Show |
intron_variant | MODIFIER | c.480-19923C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116042524 | ||||||
| chr12:116043010
|
TAA | T | 17 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(14): Show | 17 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(14): Show |
intron_variant | MODIFIER | c.480-20411_480-2041 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116043010 | ||||||
| chr12:116043843
|
T | C | 1 | a0001c0001t0001g0044 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.480-21242A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116043843 | ||||||
| chr12:116043861
|
A | G | 245 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(242): Show | 245 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.480-21260T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116043861 | ||||||
| chr12:116044063
|
C | T | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.480-21462G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116044063 | ||||||
| chr12:116044230
|
A | C | 1 | a0001c0001t0001g0227 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.480-21629T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116044230 | ||||||
| chr12:116044264
|
C | CA | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(54): Show |
intron_variant | MODIFIER | c.480-21664dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116044264 | ||||||
| chr12:116044308
|
G | A | 85 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(82): Show | 85 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(82): Show |
intron_variant | MODIFIER | c.480-21707C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116044308 | ||||||
| chr12:116044399
|
A | G | 9 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(6): Show | 9 | HG02257.hp1 HG02559.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.480-21798T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116044399 | ||||||
| chr12:116044463
|
G | A | 1 | a0001c0002t0002g0054 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.480-21862C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116044463 | ||||||
| chr12:116044513
|
T | G | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.480-21912A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116044513 | ||||||
| chr12:116044562
|
A | G | 1 | a0001c0002t0002g0075 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.480-21961T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116044562 | ||||||
| chr12:116044998
|
G | A | 2 | a0001c0002t0002g0047a0001c0002t0002g0086 | 2 | HG02698.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.480-22397C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116044998 | ||||||
| chr12:116045071
|
G | A | 1 | a0001c0005t0001g0098 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.480-22470C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116045071 | ||||||
| chr12:116045114
|
G | A | 1 | a0001c0001t0001g0238 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.480-22513C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116045114 | ||||||
| chr12:116045119
|
A | G | 1 | a0001c0001t0001g0245 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.480-22518T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116045119 | ||||||
| chr12:116045286
|
T | C | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.480-22685A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116045286 | ||||||
| chr12:116045881
|
A | AAT | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.480-23282_480-2328 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116045881 | ||||||
| chr12:116045925
|
C | T | 47 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(44): Show | 47 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(44): Show |
intron_variant | MODIFIER | c.480-23324G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116045925 | ||||||
| chr12:116046160
|
A | C | 60 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(57): Show | 60 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(57): Show |
intron_variant | MODIFIER | c.480-23559T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116046160 | ||||||
| chr12:116046188
|
T | G | 60 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(57): Show | 60 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(57): Show |
intron_variant | MODIFIER | c.480-23587A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116046188 | ||||||
| chr12:116046325
|
A | G | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.480-23724T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116046325 | ||||||
| chr12:116046488
|
A | G | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.480-23887T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116046488 | ||||||
| chr12:116046739
|
C | T | 1 | a0001c0001t0001g0153 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.480-24138G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116046739 | ||||||
| chr12:116046756
|
G | A | 1 | a0001c0001t0001g0205 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.480-24155C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116046756 | ||||||
| chr12:116046927
|
C | G | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.480-24326G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116046927 | ||||||
| chr12:116046951
|
C | T | 1 | a0006c0019t0001g0099 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.480-24350G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116046951 | ||||||
| chr12:116046967
|
C | T | 22 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(19): Show | 22 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.480-24366G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116046967 | ||||||
| chr12:116046980
|
G | A | 3 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097 | 3 | HG02717.hp2 HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.480-24379C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116046980 | ||||||
| chr12:116047026
|
G | A | 1 | a0001c0001t0001g0214 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.480-24425C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116047026 | ||||||
| chr12:116047348
|
T | C | 2 | a0001c0001t0001g0100a0003c0009t0001g0200 | 2 | HG01168.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.480-24747A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116047348 | ||||||
| chr12:116047787
|
G | A | 1 | a0001c0002t0002g0062 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.480-25186C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116047787 | ||||||
| chr12:116048035
|
C | CT | 66 | a0001c0001t0001g0070a0001c0001t0001g0192a0001c0001t0001g0226others(63): Show | 66 | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(63): Show |
intron_variant | MODIFIER | c.480-25435dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116048035 | ||||||
| chr12:116048911
|
G | A | 1 | a0001c0002t0011g0124 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.480-26310C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116048911 | ||||||
| chr12:116049047
|
A | G | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.480-26446T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116049047 | ||||||
| chr12:116049175
|
C | T | 1 | a0001c0002t0006g0008 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.480-26574G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116049175 | ||||||
| chr12:116049692
|
C | T | 9 | a0001c0002t0002g0039a0001c0002t0002g0048a0001c0002t0002g0059others(6): Show | 9 | NA18950.hp1 NA18957.hp2 NA18963.hp2 others(6): Show |
intron_variant | MODIFIER | c.480-27091G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116049692 | ||||||
| chr12:116049707
|
A | G | 2 | a0001c0002t0002g0065a0001c0002t0002g0066 | 2 | HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.480-27106T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116049707 | ||||||
| chr12:116050292
|
A | G | 1 | a0001c0001t0001g0229 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.480-27691T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116050292 | ||||||
| chr12:116050659
|
G | A | 2 | a0001c0001t0001g0105a0001c0001t0001g0108 | 2 | NA18951.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.480-28058C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116050659 | ||||||
| chr12:116050766
|
G | A | 1 | a0001c0001t0001g0105 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.480-28165C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116050766 | ||||||
| chr12:116050899
|
C | T | 41 | a0001c0001t0001g0087a0001c0001t0001g0158a0001c0001t0001g0159others(38): Show | 41 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(38): Show |
intron_variant | MODIFIER | c.480-28298G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116050899 | ||||||
| chr12:116050950
|
A | C | 243 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(240): Show | 243 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(240): Show |
intron_variant | MODIFIER | c.480-28349T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116050950 | ||||||
| chr12:116051041
|
C | G | 1 | a0001c0001t0001g0064 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.480-28440G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116051041 | ||||||
| chr12:116051078
|
G | T | 8 | a0001c0001t0001g0243a0001c0004t0001g0067a0001c0004t0001g0181others(5): Show | 8 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(5): Show |
intron_variant | MODIFIER | c.480-28477C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116051078 | ||||||
| chr12:116051171
|
A | T | 1 | a0001c0002t0002g0047 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.480-28570T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116051171 | ||||||
| chr12:116051203
|
A | G | 243 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(240): Show | 243 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(240): Show |
intron_variant | MODIFIER | c.480-28602T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116051203 | ||||||
| chr12:116051473
|
T | C | 1 | a0001c0002t0002g0075 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.480-28872A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116051473 | ||||||
| chr12:116052078
|
T | TAC | 57 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(54): Show | 57 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(54): Show |
intron_variant | MODIFIER | c.480-29479_480-2947 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116052078 | ||||||
| chr12:116052078
|
T | TACAC | 21 | a0001c0001t0001g0087a0001c0001t0001g0170a0001c0001t0001g0179others(18): Show | 21 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(18): Show |
intron_variant | MODIFIER | c.480-29481_480-2947 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116052078 | ||||||
| chr12:116052078
|
TACACACA others(3): Show |
T | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(56): Show |
intron_variant | MODIFIER | c.480-29487_480-2947 others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116052078 | ||||||
| chr12:116052168
|
A | G | 1 | a0008c0011t0002g0132 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.480-29567T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116052168 | ||||||
| chr12:116052470
|
T | C | 1 | a0001c0001t0001g0235 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.480-29869A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116052470 | ||||||
| chr12:116052504
|
T | C | 5 | a0001c0001t0001g0032a0001c0001t0001g0103a0001c0001t0003g0015others(2): Show | 5 | HG00597.hp2 NA18972.hp2 NA18992.hp1 others(2): Show |
intron_variant | MODIFIER | c.480-29903A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116052504 | ||||||
| chr12:116052566
|
C | A | 2 | a0001c0001t0004g0202a0001c0001t0004g0239 | 2 | HG00639.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.480-29965G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116052566 | ||||||
| chr12:116052667
|
C | G | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.480-30066G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116052667 | ||||||
| chr12:116053167
|
T | A | 1 | a0001c0001t0004g0040 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.480-30566A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116053167 | ||||||
| chr12:116053374
|
A | T | 1 | a0001c0005t0001g0157 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.480-30773T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116053374 | ||||||
| chr12:116053526
|
G | C | 1 | a0001c0001t0004g0230 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.480-30925C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116053526 | ||||||
| chr12:116053703
|
T | C | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(56): Show |
intron_variant | MODIFIER | c.480-31102A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116053703 | ||||||
| chr12:116053996
|
C | G | 1 | a0001c0005t0001g0098 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.480-31395G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116053996 | ||||||
| chr12:116054209
|
C | A | 37 | a0001c0002t0002g0039a0001c0002t0002g0046a0001c0002t0002g0047others(34): Show | 37 | HG00558.hp1 HG00621.hp2 HG00741.hp1 others(34): Show |
intron_variant | MODIFIER | c.480-31608G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116054209 | ||||||
| chr12:116054211
|
CAA | C | 37 | a0001c0002t0002g0039a0001c0002t0002g0046a0001c0002t0002g0047others(34): Show | 37 | HG00558.hp1 HG00621.hp2 HG00741.hp1 others(34): Show |
intron_variant | MODIFIER | c.480-31612_480-3161 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116054211 | ||||||
| chr12:116054213
|
A | AAC | 17 | a0001c0001t0001g0035a0001c0002t0002g0038a0001c0002t0002g0054others(14): Show | 17 | HG00140.hp2 HG00323.hp2 HG00639.hp2 others(14): Show |
intron_variant | MODIFIER | c.480-31614_480-3161 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116054213 | ||||||
| chr12:116054213
|
A | AACAC | 3 | a0001c0002t0002g0049a0001c0002t0002g0051a0001c0002t0009g0030 | 3 | HG03209.hp1 NA19060.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.480-31616_480-3161 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116054213 | ||||||
| chr12:116054213
|
AAC | A | 4 | a0001c0001t0001g0070a0001c0001t0001g0192a0001c0001t0003g0009others(1): Show | 4 | HG00408.hp1 HG01433.hp2 HG01978.hp1 others(1): Show |
intron_variant | MODIFIER | c.480-31614_480-3161 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116054213 | ||||||
| chr12:116054699
|
A | G | 36 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(33): Show | 36 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.480-32098T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116054699 | ||||||
| chr12:116054859
|
T | C | 2 | a0001c0002t0002g0081a0001c0002t0002g0199 | 2 | NA19005.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.480-32258A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116054859 | ||||||
| chr12:116054967
|
T | C | 2 | a0001c0001t0001g0228a0001c0001t0003g0011 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.480-32366A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116054967 | ||||||
| chr12:116055299
|
T | A | 85 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(82): Show | 85 | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(82): Show |
intron_variant | MODIFIER | c.480-32698A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116055299 | ||||||
| chr12:116055580
|
T | C | 1 | a0001c0001t0003g0020 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.480-32979A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116055580 | ||||||
| chr12:116055690
|
T | C | 1 | a0001c0001t0004g0209 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.480-33089A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116055690 | ||||||
| chr12:116055696
|
A | G | 2 | a0001c0001t0001g0121a0001c0005t0001g0096 | 2 | HG02559.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.480-33095T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116055696 | ||||||
| chr12:116055856
|
T | C | 1 | a0001c0001t0004g0230 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.480-33255A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116055856 | ||||||
| chr12:116055876
|
C | T | 1 | a0001c0001t0003g0009 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.480-33275G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116055876 | ||||||
| chr12:116055879
|
T | C | 10 | a0001c0002t0002g0038a0001c0002t0002g0054a0001c0002t0002g0058others(7): Show | 10 | HG00639.hp2 HG01071.hp1 HG01168.hp2 others(7): Show |
intron_variant | MODIFIER | c.480-33278A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116055879 | ||||||
| chr12:116056062
|
G | A | 56 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(53): Show | 56 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(53): Show |
intron_variant | MODIFIER | c.480-33461C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116056062 | ||||||
| chr12:116056089
|
A | C | 1 | a0001c0004t0001g0211 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.480-33488T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116056089 | ||||||
| chr12:116056252
|
A | G | 245 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(242): Show | 245 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.480-33651T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116056252 | ||||||
| chr12:116056285
|
G | GT | 35 | a0001c0001t0001g0087a0001c0001t0001g0125a0001c0001t0001g0179others(32): Show | 35 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(32): Show |
intron_variant | MODIFIER | c.480-33685dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116056285 | ||||||
| chr12:116056454
|
C | T | 4 | a0001c0005t0001g0095a0001c0005t0001g0097a0001c0005t0001g0098others(1): Show | 4 | HG02717.hp2 HG02922.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.480-33853G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116056454 | ||||||
| chr12:116056601
|
T | C | 1 | a0001c0001t0001g0136 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.480-34000A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116056601 | ||||||
| chr12:116056924
|
C | T | 3 | a0001c0001t0003g0023a0001c0001t0004g0183a0001c0001t0004g0187 | 3 | HG00642.hp1 HG00733.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.480-34323G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116056924 | ||||||
| chr12:116057265
|
C | G | 1 | a0001c0001t0001g0245 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.480-34664G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116057265 | ||||||
| chr12:116057272
|
G | T | 1 | a0001c0001t0001g0143 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.480-34671C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116057272 | ||||||
| chr12:116057411
|
G | A | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.480-34810C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116057411 | ||||||
| chr12:116057450
|
A | G | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.480-34849T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116057450 | ||||||
| chr12:116057492
|
A | G | 1 | a0001c0001t0003g0014 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.480-34891T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116057492 | ||||||
| chr12:116057770
|
A | G | 1 | a0001c0001t0001g0147 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.480-35169T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116057770 | ||||||
| chr12:116058366
|
A | G | 3 | a0001c0002t0002g0051a0001c0002t0002g0178a0001c0002t0011g0124 | 3 | HG00140.hp2 HG03209.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.480-35765T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116058366 | ||||||
| chr12:116058590
|
C | T | 2 | a0001c0001t0001g0251a0001c0001t0003g0014 | 2 | HG02630.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.480-35989G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116058590 | ||||||
| chr12:116058667
|
A | G | 2 | a0001c0001t0001g0142a0001c0001t0003g0021 | 2 | HG02074.hp2 HG02083.hp2 |
intron_variant | MODIFIER | c.480-36066T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116058667 | ||||||
| chr12:116058824
|
T | G | 1 | a0001c0001t0001g0149 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.480-36223A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116058824 | ||||||
| chr12:116058891
|
T | C | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.480-36290A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116058891 | ||||||
| chr12:116058895
|
T | C | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.480-36294A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116058895 | ||||||
| chr12:116059074
|
C | CT | 4 | a0001c0005t0001g0095a0001c0005t0001g0097a0001c0005t0001g0098others(1): Show | 4 | HG02717.hp2 HG02922.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.480-36474dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116059074 | ||||||
| chr12:116059089
|
A | G | 1 | a0001c0001t0004g0201 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.480-36488T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116059089 | ||||||
| chr12:116059309
|
C | T | 2 | a0001c0004t0001g0181a0001c0004t0001g0182 | 2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.480-36708G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116059309 | ||||||
| chr12:116059320
|
A | G | 1 | a0002c0007t0002g0088 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.480-36719T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116059320 | ||||||
| chr12:116059417
|
C | CT | 50 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(47): Show | 50 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(47): Show |
intron_variant | MODIFIER | c.480-36817dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116059417 | ||||||
| chr12:116059504
|
G | A | 45 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(42): Show | 45 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(42): Show |
intron_variant | MODIFIER | c.480-36903C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116059504 | ||||||
| chr12:116059563
|
GC | G | 4 | a0001c0005t0001g0095a0001c0005t0001g0097a0001c0005t0001g0098others(1): Show | 4 | HG02717.hp2 HG02922.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.480-36963delG | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116059563 | ||||||
| chr12:116059586
|
T | C | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(56): Show |
intron_variant | MODIFIER | c.480-36985A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116059586 | ||||||
| chr12:116059775
|
C | T | 1 | a0001c0002t0002g0084 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.479+36894G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116059775 | ||||||
| chr12:116059863
|
A | C | 1 | a0002c0007t0002g0088 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.479+36806T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116059863 | ||||||
| chr12:116060053
|
T | G | 1 | a0001c0002t0002g0051 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.479+36616A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116060053 | ||||||
| chr12:116060110
|
C | T | 1 | a0001c0001t0003g0006 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.479+36559G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116060110 | ||||||
| chr12:116060578
|
G | A | 1 | a0001c0010t0001g0111 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.479+36091C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116060578 | ||||||
| chr12:116060579
|
G | A | 2 | a0001c0001t0001g0101a0001c0001t0003g0003 | 2 | HG02486.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.479+36090C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116060579 | ||||||
| chr12:116060579
|
G | GA | 39 | a0001c0001t0001g0043a0001c0001t0001g0052a0001c0001t0001g0070others(36): Show | 39 | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(36): Show |
intron_variant | MODIFIER | c.479+36089dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116060579 | ||||||
| chr12:116060608
|
AAAAGACA others(4): Show |
A | 1 | a0001c0002t0002g0053 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.479+36050_479+3606 others(15): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116060608 | ||||||
| chr12:116060625
|
C | A | 1 | a0001c0001t0001g0125 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.479+36044G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116060625 | ||||||
| chr12:116060762
|
G | A | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.479+35907C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116060762 | ||||||
| chr12:116060849
|
T | C | 88 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(85): Show | 88 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(85): Show |
intron_variant | MODIFIER | c.479+35820A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116060849 | ||||||
| chr12:116061068
|
C | T | 57 | a0001c0001t0001g0034a0001c0001t0001g0041a0001c0001t0001g0052others(54): Show | 57 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(54): Show |
intron_variant | MODIFIER | c.479+35601G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116061068 | ||||||
| chr12:116061074
|
T | C | 1 | a0001c0001t0001g0205 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.479+35595A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116061074 | ||||||
| chr12:116061202
|
C | G | 2 | a0001c0001t0001g0069a0001c0001t0001g0215 | 2 | HG00438.hp2 NA19012.hp1 |
intron_variant | MODIFIER | c.479+35467G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116061202 | ||||||
| chr12:116061566
|
A | G | 35 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(32): Show | 35 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(32): Show |
intron_variant | MODIFIER | c.479+35103T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116061566 | ||||||
| chr12:116061631
|
G | A | 5 | a0001c0001t0001g0043a0001c0001t0001g0146a0001c0001t0001g0147others(2): Show | 5 | HG00423.hp1 HG03927.hp1 NA18974.hp1 others(2): Show |
intron_variant | MODIFIER | c.479+35038C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116061631 | ||||||
| chr12:116061901
|
A | G | 136 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0043others(133): Show | 136 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.479+34768T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116061901 | ||||||
| chr12:116062008
|
GA | G | 237 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(234): Show | 237 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(234): Show |
intron_variant | MODIFIER | c.479+34660delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062008 | ||||||
| chr12:116062008
|
GAA | G | 7 | a0001c0001t0001g0158a0001c0001t0001g0163a0001c0001t0001g0195others(4): Show | 7 | HG02109.hp1 HG02630.hp2 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.479+34659_479+3466 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062008 | ||||||
| chr12:116062009
|
A | G | 1 | a0001c0001t0001g0196 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.479+34660T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062009 | ||||||
| chr12:116062013
|
A | G | 3 | a0001c0001t0004g0068a0001c0001t0004g0210a0009c0023t0004g0206 | 3 | HG00280.hp1 HG00735.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.479+34656T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062013 | ||||||
| chr12:116062254
|
G | C | 10 | a0001c0001t0001g0243a0001c0004t0001g0067a0001c0004t0001g0181others(7): Show | 10 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(7): Show |
intron_variant | MODIFIER | c.479+34415C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062254 | ||||||
| chr12:116062329
|
T | A | 1 | a0001c0002t0002g0237 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.479+34340A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062329 | ||||||
| chr12:116062365
|
G | T | 2 | a0001c0001t0001g0121a0001c0005t0001g0096 | 2 | HG02559.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.479+34304C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062365 | ||||||
| chr12:116062377
|
C | T | 2 | a0001c0001t0001g0121a0001c0005t0001g0096 | 2 | HG02559.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.479+34292G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062377 | ||||||
| chr12:116062406
|
A | C | 1 | a0001c0001t0001g0125 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.479+34263T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062406 | ||||||
| chr12:116062486
|
G | C | 2 | a0001c0001t0001g0215a0001c0010t0001g0111 | 2 | HG00438.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.479+34183C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062486 | ||||||
| chr12:116062488
|
G | GT | 45 | a0001c0002t0002g0038a0001c0002t0002g0046a0001c0002t0002g0047others(42): Show | 45 | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(42): Show |
intron_variant | MODIFIER | c.479+34180dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062488 | ||||||
| chr12:116062488
|
G | GTT | 9 | a0001c0002t0002g0039a0001c0002t0002g0058a0001c0002t0002g0060others(6): Show | 9 | HG03831.hp2 HG03942.hp2 NA18939.hp1 others(6): Show |
intron_variant | MODIFIER | c.479+34179_479+3418 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062488 | ||||||
| chr12:116062488
|
GT | G | 159 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(156): Show | 159 | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(156): Show |
intron_variant | MODIFIER | c.479+34180delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062488 | ||||||
| chr12:116062491
|
T | G | 2 | a0001c0005t0001g0095a0001c0005t0001g0097 | 2 | HG02717.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.479+34178A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062491 | ||||||
| chr12:116062518
|
T | G | 1 | a0001c0001t0001g0101 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.479+34151A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062518 | ||||||
| chr12:116062549
|
G | A | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.479+34120C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062549 | ||||||
| chr12:116062708
|
G | T | 3 | a0001c0002t0002g0049a0001c0002t0002g0084a0001c0002t0009g0030 | 3 | HG00323.hp2 NA19060.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.479+33961C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062708 | ||||||
| chr12:116062784
|
T | C | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.479+33885A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116062784 | ||||||
| chr12:116063105
|
T | C | 60 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(57): Show | 60 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(57): Show |
intron_variant | MODIFIER | c.479+33564A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116063105 | ||||||
| chr12:116063376
|
G | C | 2 | a0001c0001t0001g0101a0001c0001t0003g0003 | 2 | HG02486.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.479+33293C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116063376 | ||||||
| chr12:116063827
|
G | A | 3 | a0001c0002t0002g0059a0001c0002t0002g0063a0001c0002t0002g0176 | 3 | NA18950.hp1 NA18964.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.479+32842C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116063827 | ||||||
| chr12:116064376
|
G | A | 1 | a0001c0002t0002g0086 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.479+32293C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116064376 | ||||||
| chr12:116064514
|
G | T | 2 | a0001c0001t0001g0228a0001c0001t0003g0011 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.479+32155C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116064514 | ||||||
| chr12:116064921
|
C | T | 10 | a0001c0001t0001g0179a0001c0001t0001g0220a0001c0001t0001g0221others(7): Show | 10 | HG00438.hp1 HG00544.hp1 HG00673.hp2 others(7): Show |
intron_variant | MODIFIER | c.479+31748G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116064921 | ||||||
| chr12:116065323
|
C | A | 4 | a0001c0001t0001g0142a0001c0001t0001g0154a0001c0001t0003g0004others(1): Show | 4 | HG02074.hp2 HG02083.hp2 NA18966.hp2 others(1): Show |
intron_variant | MODIFIER | c.479+31346G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116065323 | ||||||
| chr12:116065988
|
G | A | 1 | a0001c0002t0002g0178 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.479+30681C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116065988 | ||||||
| chr12:116065992
|
A | G | 45 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(42): Show | 45 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(42): Show |
intron_variant | MODIFIER | c.479+30677T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116065992 | ||||||
| chr12:116065997
|
T | G | 4 | a0001c0002t0002g0046a0001c0002t0002g0072a0001c0014t0002g0079others(1): Show | 4 | HG00621.hp2 NA18977.hp2 NA19002.hp2 others(1): Show |
intron_variant | MODIFIER | c.479+30672A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116065997 | ||||||
| chr12:116066016
|
T | C | 1 | a0001c0001t0001g0246 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.479+30653A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116066016 | ||||||
| chr12:116066103
|
T | A | 4 | a0001c0001t0001g0032a0001c0001t0001g0103a0001c0001t0003g0015others(1): Show | 4 | HG00597.hp2 NA18972.hp2 NA19005.hp1 others(1): Show |
intron_variant | MODIFIER | c.479+30566A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116066103 | ||||||
| chr12:116066315
|
T | C | 1 | a0001c0001t0001g0226 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.479+30354A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116066315 | ||||||
| chr12:116067156
|
T | G | 1 | a0001c0001t0001g0169 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.479+29513A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116067156 | ||||||
| chr12:116067540
|
A | G | 1 | a0001c0001t0013g0135 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.479+29129T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116067540 | ||||||
| chr12:116067719
|
C | G | 1 | a0001c0002t0002g0085 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.479+28950G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116067719 | ||||||
| chr12:116068269
|
C | T | 1 | a0001c0001t0001g0193 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.479+28400G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116068269 | ||||||
| chr12:116069662
|
G | A | 2 | a0001c0001t0001g0102a0001c0001t0001g0112 | 2 | HG00733.hp1 HG01123.hp1 |
intron_variant | MODIFIER | c.479+27007C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116069662 | ||||||
| chr12:116069695
|
C | T | 4 | a0001c0005t0001g0095a0001c0005t0001g0097a0001c0005t0001g0098others(1): Show | 4 | HG02717.hp2 HG02922.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.479+26974G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116069695 | ||||||
| chr12:116069707
|
G | T | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.479+26962C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116069707 | ||||||
| chr12:116069835
|
C | T | 2 | a0001c0001t0001g0123a0001c0001t0001g0149 | 2 | NA18952.hp2 NA18959.hp2 |
intron_variant | MODIFIER | c.479+26834G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116069835 | ||||||
| chr12:116070115
|
G | A | 1 | a0001c0001t0001g0143 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.479+26554C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116070115 | ||||||
| chr12:116070295
|
T | C | 18 | a0001c0001t0003g0023a0001c0001t0004g0040a0001c0001t0004g0068others(15): Show | 18 | HG00140.hp1 HG00280.hp1 HG00639.hp1 others(15): Show |
intron_variant | MODIFIER | c.479+26374A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116070295 | ||||||
| chr12:116070470
|
TG | T | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.479+26198delC | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116070470 | ||||||
| chr12:116070481
|
A | G | 1 | a0001c0001t0003g0020 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.479+26188T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116070481 | ||||||
| chr12:116070524
|
A | G | 1 | a0001c0002t0002g0156 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.479+26145T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116070524 | ||||||
| chr12:116070618
|
A | T | 3 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0118 | 3 | HG02559.hp1 HG02615.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.479+26051T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116070618 | ||||||
| chr12:116070669
|
T | G | 60 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(57): Show | 60 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(57): Show |
intron_variant | MODIFIER | c.479+26000A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116070669 | ||||||
| chr12:116070686
|
C | T | 1 | a0001c0001t0003g0020 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.479+25983G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116070686 | ||||||
| chr12:116070949
|
T | C | 26 | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0071others(23): Show | 26 | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(23): Show |
intron_variant | MODIFIER | c.479+25720A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116070949 | ||||||
| chr12:116071099
|
C | T | 1 | a0001c0001t0001g0245 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.479+25570G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116071099 | ||||||
| chr12:116071226
|
T | C | 48 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(45): Show | 48 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(45): Show |
intron_variant | MODIFIER | c.479+25443A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116071226 | ||||||
| chr12:116071560
|
G | A | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.479+25109C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116071560 | ||||||
| chr12:116071586
|
T | C | 48 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(45): Show | 48 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(45): Show |
intron_variant | MODIFIER | c.479+25083A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116071586 | ||||||
| chr12:116071627
|
A | T | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(56): Show |
intron_variant | MODIFIER | c.479+25042T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116071627 | ||||||
| chr12:116071661
|
A | G | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.479+25008T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116071661 | ||||||
| chr12:116071758
|
G | A | 10 | a0001c0001t0001g0243a0001c0004t0001g0067a0001c0004t0001g0181others(7): Show | 10 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(7): Show |
intron_variant | MODIFIER | c.479+24911C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116071758 | ||||||
| chr12:116071818
|
G | GC | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(56): Show |
intron_variant | MODIFIER | c.479+24850dupG | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116071818 | ||||||
| chr12:116072193
|
A | T | 6 | a0001c0001t0001g0179a0001c0001t0001g0222a0001c0001t0001g0223others(3): Show | 6 | HG00438.hp1 HG00673.hp2 NA18964.hp1 others(3): Show |
intron_variant | MODIFIER | c.479+24476T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116072193 | ||||||
| chr12:116072450
|
G | GTTTTTGT | 45 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(42): Show | 45 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(42): Show |
intron_variant | MODIFIER | c.479+24212_479+2421 others(11): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116072450 | ||||||
| chr12:116072501
|
G | C | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.479+24168C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116072501 | ||||||
| chr12:116073109
|
A | G | 1 | a0001c0001t0001g0143 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.479+23560T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116073109 | ||||||
| chr12:116073215
|
A | T | 1 | a0001c0001t0001g0139 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.479+23454T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116073215 | ||||||
| chr12:116073352
|
C | T | 22 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(19): Show | 22 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.479+23317G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116073352 | ||||||
| chr12:116073358
|
T | C | 1 | a0001c0001t0001g0222 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.479+23311A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116073358 | ||||||
| chr12:116073399
|
G | A | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.479+23270C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116073399 | ||||||
| chr12:116073585
|
A | G | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.479+23084T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116073585 | ||||||
| chr12:116073644
|
C | G | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.479+23025G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116073644 | ||||||
| chr12:116073831
|
C | T | 1 | a0001c0002t0009g0031 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.479+22838G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116073831 | ||||||
| chr12:116073883
|
G | A | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.479+22786C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116073883 | ||||||
| chr12:116074116
|
C | T | 16 | a0001c0001t0001g0087a0001c0001t0001g0179a0001c0001t0001g0219others(13): Show | 16 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(13): Show |
intron_variant | MODIFIER | c.479+22553G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116074116 | ||||||
| chr12:116074209
|
G | A | 252 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(249): Show | 252 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(249): Show |
intron_variant | MODIFIER | c.479+22460C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116074209 | ||||||
| chr12:116074472
|
T | G | 14 | a0001c0001t0001g0162a0001c0001t0001g0243a0001c0001t0008g0005others(11): Show | 14 | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(11): Show |
intron_variant | MODIFIER | c.479+22197A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116074472 | ||||||
| chr12:116074510
|
G | C | 1 | a0001c0002t0002g0086 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.479+22159C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116074510 | ||||||
| chr12:116074868
|
A | G | 2 | a0001c0001t0004g0202a0001c0001t0004g0239 | 2 | HG00639.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.479+21801T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116074868 | ||||||
| chr12:116075669
|
A | G | 8 | a0001c0001t0003g0023a0001c0001t0004g0040a0001c0001t0004g0120others(5): Show | 8 | HG00140.hp1 HG00642.hp1 HG00733.hp2 others(5): Show |
intron_variant | MODIFIER | c.479+21000T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116075669 | ||||||
| chr12:116075910
|
A | AT | 10 | a0001c0001t0001g0035a0001c0001t0001g0044a0001c0001t0001g0069others(7): Show | 10 | HG00597.hp1 HG01175.hp1 HG01978.hp1 others(7): Show |
intron_variant | MODIFIER | c.479+20758dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116075910 | ||||||
| chr12:116075910
|
AT | A | 31 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0100others(28): Show | 31 | HG00544.hp2 HG00733.hp1 HG01123.hp1 others(28): Show |
intron_variant | MODIFIER | c.479+20758delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116075910 | ||||||
| chr12:116075910
|
ATTT | A | 54 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(51): Show | 54 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(51): Show |
intron_variant | MODIFIER | c.479+20756_479+2075 others(7): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116075910 | ||||||
| chr12:116075930
|
T | C | 1 | a0001c0002t0002g0178 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.479+20739A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116075930 | ||||||
| chr12:116075931
|
T | C | 58 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.479+20738A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116075931 | ||||||
| chr12:116075936
|
C | T | 2 | a0001c0001t0001g0205a0001c0001t0001g0226 | 2 | HG03453.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.479+20733G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116075936 | ||||||
| chr12:116075962
|
G | A | 1 | a0001c0001t0003g0014 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.479+20707C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116075962 | ||||||
| chr12:116075965
|
G | C | 1 | a0001c0003t0016g0253 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.479+20704C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116075965 | ||||||
| chr12:116076039
|
G | A | 40 | a0001c0001t0001g0087a0001c0001t0001g0158a0001c0001t0001g0159others(37): Show | 40 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(37): Show |
intron_variant | MODIFIER | c.479+20630C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116076039 | ||||||
| chr12:116076059
|
G | A | 2 | a0001c0001t0001g0101a0001c0001t0003g0003 | 2 | HG02486.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.479+20610C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116076059 | ||||||
| chr12:116076071
|
G | A | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.479+20598C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116076071 | ||||||
| chr12:116076427
|
C | T | 1 | a0001c0001t0003g0017 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.479+20242G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116076427 | ||||||
| chr12:116076573
|
C | T | 8 | a0001c0001t0005g0184a0001c0003t0001g0126a0001c0003t0001g0127others(5): Show | 8 | HG02145.hp2 HG02486.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.479+20096G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116076573 | ||||||
| chr12:116076695
|
T | C | 1 | a0001c0001t0001g0243 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.479+19974A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116076695 | ||||||
| chr12:116076733
|
T | C | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(56): Show |
intron_variant | MODIFIER | c.479+19936A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116076733 | ||||||
| chr12:116077042
|
C | CT | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(56): Show |
intron_variant | MODIFIER | c.479+19626dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116077042 | ||||||
| chr12:116077518
|
T | C | 1 | a0008c0011t0002g0132 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.479+19151A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116077518 | ||||||
| chr12:116077620
|
T | C | 1 | a0001c0003t0001g0164 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.479+19049A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116077620 | ||||||
| chr12:116077924
|
G | A | 1 | a0001c0001t0001g0069 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.479+18745C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116077924 | ||||||
| chr12:116078141
|
C | CA | 14 | a0001c0001t0001g0069a0001c0001t0001g0118a0001c0001t0001g0121others(11): Show | 14 | HG00735.hp1 HG01261.hp1 HG01346.hp2 others(11): Show |
intron_variant | MODIFIER | c.479+18527dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116078141 | ||||||
| chr12:116078141
|
CA | C | 7 | a0001c0001t0001g0100a0001c0001t0001g0129a0001c0001t0001g0152others(4): Show | 7 | HG01168.hp1 HG02145.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.479+18527delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116078141 | ||||||
| chr12:116078486
|
T | A | 3 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097 | 3 | HG02717.hp2 HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.479+18183A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116078486 | ||||||
| chr12:116078489
|
G | A | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.479+18180C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116078489 | ||||||
| chr12:116078650
|
A | G | 1 | a0004c0022t0001g0189 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.479+18019T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116078650 | ||||||
| chr12:116078780
|
G | A | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.479+17889C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116078780 | ||||||
| chr12:116078877
|
A | G | 1 | a0001c0004t0001g0188 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.479+17792T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116078877 | ||||||
| chr12:116078912
|
G | A | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.479+17757C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116078912 | ||||||
| chr12:116079088
|
T | C | 2 | a0001c0002t0002g0054a0001c0002t0002g0061 | 2 | HG01981.hp1 HG02293.hp1 |
intron_variant | MODIFIER | c.479+17581A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116079088 | ||||||
| chr12:116079213
|
TTGG | T | 57 | a0001c0001t0001g0226a0001c0002t0002g0038a0001c0002t0002g0039others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.479+17453_479+1745 others(7): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116079213 | ||||||
| chr12:116079344
|
A | T | 5 | a0001c0002t0002g0065a0001c0002t0002g0066a0001c0002t0002g0073others(2): Show | 5 | HG00741.hp1 HG01515.hp1 HG01516.hp1 others(2): Show |
intron_variant | MODIFIER | c.479+17325T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116079344 | ||||||
| chr12:116079434
|
C | T | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.479+17235G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116079434 | ||||||
| chr12:116079453
|
T | C | 58 | a0001c0001t0004g0232a0001c0002t0002g0038a0001c0002t0002g0039others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.479+17216A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116079453 | ||||||
| chr12:116079645
|
C | G | 1 | a0001c0001t0001g0045 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.479+17024G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116079645 | ||||||
| chr12:116079775
|
G | A | 1 | a0001c0003t0001g0127 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.479+16894C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116079775 | ||||||
| chr12:116079860
|
C | T | 1 | a0001c0001t0004g0207 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.479+16809G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116079860 | ||||||
| chr12:116079899
|
T | C | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(56): Show |
intron_variant | MODIFIER | c.479+16770A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116079899 | ||||||
| chr12:116080052
|
A | C | 1 | a0001c0013t0001g0225 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.479+16617T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116080052 | ||||||
| chr12:116080110
|
C | T | 1 | a0001c0001t0004g0239 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.479+16559G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116080110 | ||||||
| chr12:116080145
|
T | C | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.479+16524A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116080145 | ||||||
| chr12:116080461
|
C | T | 3 | a0001c0002t0002g0083a0001c0002t0006g0010a0001c0012t0001g0148 | 3 | NA18939.hp1 NA18949.hp1 NA18981.hp2 |
intron_variant | MODIFIER | c.479+16208G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116080461 | ||||||
| chr12:116080701
|
T | C | 1 | a0001c0001t0001g0247 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.479+15968A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116080701 | ||||||
| chr12:116080906
|
T | C | 5 | a0001c0001t0001g0158a0001c0001t0001g0159a0001c0001t0001g0168others(2): Show | 5 | HG01074.hp2 HG02109.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.479+15763A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116080906 | ||||||
| chr12:116080952
|
G | A | 1 | a0001c0001t0014g0106 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.479+15717C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116080952 | ||||||
| chr12:116081016
|
C | T | 1 | a0001c0001t0001g0052 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.479+15653G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116081016 | ||||||
| chr12:116081034
|
A | G | 58 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.479+15635T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116081034 | ||||||
| chr12:116081860
|
C | T | 1 | a0001c0020t0001g0114 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.479+14809G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116081860 | ||||||
| chr12:116081957
|
T | C | 245 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(242): Show | 245 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.479+14712A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116081957 | ||||||
| chr12:116081973
|
T | A | 36 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(33): Show | 36 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.479+14696A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116081973 | ||||||
| chr12:116082140
|
T | C | 1 | a0001c0002t0002g0237 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.479+14529A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116082140 | ||||||
| chr12:116082414
|
T | G | 8 | a0001c0001t0001g0044a0001c0001t0001g0113a0001c0001t0001g0137others(5): Show | 8 | HG02015.hp2 NA18955.hp1 NA18962.hp1 others(5): Show |
intron_variant | MODIFIER | c.479+14255A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116082414 | ||||||
| chr12:116082588
|
T | C | 3 | a0001c0001t0001g0087a0001c0001t0001g0236a0001c0001t0001g0245 | 3 | HG03239.hp1 HG03704.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.479+14081A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116082588 | ||||||
| chr12:116082687
|
A | G | 1 | a0001c0002t0002g0178 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.479+13982T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116082687 | ||||||
| chr12:116083133
|
G | A | 1 | a0001c0001t0001g0154 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.479+13536C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116083133 | ||||||
| chr12:116083275
|
A | G | 4 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(1): Show | 4 | HG02165.hp1 NA18955.hp2 NA18962.hp2 others(1): Show |
intron_variant | MODIFIER | c.479+13394T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116083275 | ||||||
| chr12:116083404
|
G | GA | 65 | a0001c0001t0001g0044a0001c0001t0001g0104a0001c0001t0001g0123others(62): Show | 65 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(62): Show |
intron_variant | MODIFIER | c.479+13264dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116083404 | ||||||
| chr12:116083404
|
G | GAA | 14 | a0001c0001t0001g0219a0001c0001t0001g0228a0001c0001t0001g0246others(11): Show | 14 | HG00423.hp2 HG00741.hp1 HG01168.hp2 others(11): Show |
intron_variant | MODIFIER | c.479+13263_479+1326 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116083404 | ||||||
| chr12:116083404
|
GA | G | 60 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0041others(57): Show | 60 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(57): Show |
intron_variant | MODIFIER | c.479+13264delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116083404 | ||||||
| chr12:116083404
|
GAA | G | 28 | a0001c0001t0001g0032a0001c0001t0001g0052a0001c0001t0001g0101others(25): Show | 28 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(25): Show |
intron_variant | MODIFIER | c.479+13263_479+1326 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116083404 | ||||||
| chr12:116083688
|
A | T | 1 | a0001c0008t0003g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.479+12981T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116083688 | ||||||
| chr12:116083809
|
T | G | 1 | a0001c0021t0001g0131 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.479+12860A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116083809 | ||||||
| chr12:116084059
|
C | T | 1 | a0001c0002t0011g0124 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.479+12610G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116084059 | ||||||
| chr12:116084084
|
G | A | 1 | a0001c0001t0001g0070 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.479+12585C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116084084 | ||||||
| chr12:116084105
|
G | C | 1 | a0001c0002t0002g0075 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.479+12564C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116084105 | ||||||
| chr12:116084127
|
T | A | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.479+12542A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116084127 | ||||||
| chr12:116084322
|
C | A | 1 | a0006c0019t0001g0099 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.479+12347G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116084322 | ||||||
| chr12:116084406
|
G | A | 1 | a0001c0001t0001g0228 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.479+12263C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116084406 | ||||||
| chr12:116084506
|
A | G | 1 | a0001c0002t0002g0046 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.479+12163T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116084506 | ||||||
| chr12:116084613
|
G | T | 18 | a0001c0001t0003g0023a0001c0001t0004g0040a0001c0001t0004g0068others(15): Show | 18 | HG00140.hp1 HG00280.hp1 HG00639.hp1 others(15): Show |
intron_variant | MODIFIER | c.479+12056C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116084613 | ||||||
| chr12:116084646
|
G | A | 1 | a0001c0001t0003g0017 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.479+12023C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116084646 | ||||||
| chr12:116084698
|
T | C | 3 | a0001c0001t0001g0142a0001c0001t0001g0154a0001c0001t0003g0021 | 3 | HG02074.hp2 HG02083.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.479+11971A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116084698 | ||||||
| chr12:116084717
|
G | A | 1 | a0001c0001t0001g0125 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.479+11952C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116084717 | ||||||
| chr12:116084722
|
T | C | 57 | a0001c0001t0001g0034a0001c0001t0001g0041a0001c0001t0001g0052others(54): Show | 57 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(54): Show |
intron_variant | MODIFIER | c.479+11947A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116084722 | ||||||
| chr12:116084995
|
C | T | 1 | a0001c0005t0001g0098 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.479+11674G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116084995 | ||||||
| chr12:116085315
|
T | A | 1 | a0001c0008t0003g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.479+11354A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085315 | ||||||
| chr12:116085365
|
G | A | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.479+11304C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085365 | ||||||
| chr12:116085500
|
C | T | 38 | a0001c0001t0001g0087a0001c0001t0001g0158a0001c0001t0001g0159others(35): Show | 38 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(35): Show |
intron_variant | MODIFIER | c.479+11169G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085500 | ||||||
| chr12:116085511
|
A | G | 1 | a0001c0001t0001g0136 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.479+11158T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085511 | ||||||
| chr12:116085673
|
C | T | 1 | a0001c0001t0001g0069 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.479+10996G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085673 | ||||||
| chr12:116085727
|
C | CTATAGTA | 68 | a0001c0001t0005g0184a0001c0002t0002g0038a0001c0002t0002g0039others(65): Show | 68 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(65): Show |
intron_variant | MODIFIER | c.479+10941_479+1094 others(11): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085727 | ||||||
| chr12:116085750
|
T | TCA | 32 | a0001c0002t0002g0039a0001c0002t0002g0046a0001c0002t0002g0047others(29): Show | 32 | HG00323.hp2 HG00423.hp2 HG01071.hp1 others(29): Show |
intron_variant | MODIFIER | c.479+10917_479+1091 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085750 | ||||||
| chr12:116085750
|
T | TCACA | 16 | a0001c0002t0002g0038a0001c0002t0002g0054a0001c0002t0002g0057others(13): Show | 16 | HG00621.hp2 HG00741.hp1 HG01074.hp1 others(13): Show |
intron_variant | MODIFIER | c.479+10918_479+1091 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085750 | ||||||
| chr12:116085750
|
T | TCACACA | 3 | a0001c0002t0002g0056a0001c0002t0002g0180a0001c0003t0001g0126 | 3 | HG00558.hp1 HG03130.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.479+10918_479+1091 others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085750 | ||||||
| chr12:116085750
|
T | TCACACAC others(3): Show |
1 | a0001c0014t0002g0079 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.479+10918_479+1091 others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085750 | ||||||
| chr12:116085754
|
T | A | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.479+10915A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085754 | ||||||
| chr12:116085754
|
T | TCA | 20 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0103others(17): Show | 20 | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.479+10913_479+1091 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085754 | ||||||
| chr12:116085754
|
T | TCACA | 7 | a0001c0001t0001g0109a0001c0001t0001g0121a0001c0003t0003g0024others(4): Show | 7 | HG01358.hp1 HG02145.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.479+10911_479+1091 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085754 | ||||||
| chr12:116085754
|
T | TCACACA | 3 | a0001c0002t0002g0178a0001c0010t0001g0111a0008c0011t0002g0132 | 3 | HG03516.hp1 NA19043.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.479+10909_479+1091 others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085754 | ||||||
| chr12:116085754
|
T | TCACACAC others(1): Show |
3 | a0001c0001t0005g0184a0001c0002t0011g0124a0001c0003t0016g0253 | 3 | HG00140.hp2 HG02486.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.479+10907_479+1091 others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085754 | ||||||
| chr12:116085754
|
T | TCACACAC others(3): Show |
2 | a0001c0002t0002g0051a0004c0022t0001g0189 | 2 | HG02683.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.479+10905_479+1091 others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085754 | ||||||
| chr12:116085754
|
TCACA | T | 56 | a0001c0001t0001g0087a0001c0001t0001g0089a0001c0001t0001g0090others(53): Show | 56 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(53): Show |
intron_variant | MODIFIER | c.479+10911_479+1091 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085754 | ||||||
| chr12:116085754
|
TCACACA | T | 49 | a0001c0001t0001g0034a0001c0001t0001g0041a0001c0001t0001g0052others(46): Show | 49 | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.479+10909_479+1091 others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116085754 | ||||||
| chr12:116086075
|
A | C | 7 | a0001c0001t0003g0023a0001c0001t0004g0120a0001c0001t0004g0183others(4): Show | 7 | HG00140.hp1 HG00642.hp1 HG00733.hp2 others(4): Show |
intron_variant | MODIFIER | c.479+10594T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116086075 | ||||||
| chr12:116086283
|
C | CT | 5 | a0001c0001t0004g0202a0001c0001t0007g0002a0001c0002t0002g0198others(2): Show | 5 | HG02280.hp2 HG02738.hp1 HG02738.hp2 others(2): Show |
intron_variant | MODIFIER | c.479+10385dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116086283 | ||||||
| chr12:116086283
|
C | CTT | 13 | a0001c0001t0001g0035a0001c0001t0001g0162a0001c0001t0001g0243others(10): Show | 13 | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(10): Show |
intron_variant | MODIFIER | c.479+10384_479+1038 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116086283 | ||||||
| chr12:116086304
|
CA | C | 243 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(240): Show | 243 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(240): Show |
intron_variant | MODIFIER | c.479+10364delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116086304 | ||||||
| chr12:116086369
|
C | T | 5 | a0001c0001t0005g0184a0001c0003t0001g0164a0001c0003t0001g0185others(2): Show | 5 | HG02145.hp2 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.479+10300G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116086369 | ||||||
| chr12:116086403
|
C | A | 2 | a0001c0001t0004g0202a0001c0001t0004g0239 | 2 | HG00639.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.479+10266G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116086403 | ||||||
| chr12:116086627
|
T | C | 2 | a0001c0001t0001g0087a0001c0001t0001g0236 | 2 | HG03239.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.479+10042A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116086627 | ||||||
| chr12:116086831
|
G | A | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.479+9838C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116086831 | ||||||
| chr12:116086970
|
C | T | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.479+9699G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116086970 | ||||||
| chr12:116087628
|
C | T | 2 | a0001c0002t0002g0054a0001c0002t0002g0061 | 2 | HG01981.hp1 HG02293.hp1 |
intron_variant | MODIFIER | c.479+9041G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116087628 | ||||||
| chr12:116088042
|
A | C | 1 | a0001c0001t0005g0184 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.479+8627T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116088042 | ||||||
| chr12:116088098
|
A | G | 1 | a0001c0008t0003g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.479+8571T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116088098 | ||||||
| chr12:116088165
|
C | G | 11 | a0001c0001t0001g0243a0001c0001t0008g0005a0001c0004t0001g0067others(8): Show | 11 | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(8): Show |
intron_variant | MODIFIER | c.479+8504G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116088165 | ||||||
| chr12:116088490
|
G | C | 1 | a0001c0001t0001g0147 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.479+8179C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116088490 | ||||||
| chr12:116088588
|
A | G | 23 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(20): Show | 23 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(20): Show |
intron_variant | MODIFIER | c.479+8081T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116088588 | ||||||
| chr12:116088838
|
C | T | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.479+7831G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116088838 | ||||||
| chr12:116089133
|
C | T | 35 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(32): Show | 35 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(32): Show |
intron_variant | MODIFIER | c.479+7536G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116089133 | ||||||
| chr12:116089135
|
G | A | 86 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(83): Show | 86 | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(83): Show |
intron_variant | MODIFIER | c.479+7534C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116089135 | ||||||
| chr12:116089569
|
G | T | 58 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.479+7100C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116089569 | ||||||
| chr12:116089937
|
C | T | 2 | a0001c0001t0001g0227a0001c0001t0001g0247 | 2 | HG00280.hp2 HG00741.hp2 |
intron_variant | MODIFIER | c.479+6732G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116089937 | ||||||
| chr12:116090032
|
C | A | 1 | a0001c0003t0001g0126 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.479+6637G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116090032 | ||||||
| chr12:116090434
|
G | A | 1 | a0001c0001t0003g0007 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.479+6235C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116090434 | ||||||
| chr12:116090504
|
G | T | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.479+6165C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116090504 | ||||||
| chr12:116090770
|
A | C | 1 | a0001c0001t0001g0092 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.479+5899T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116090770 | ||||||
| chr12:116090776
|
A | G | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.479+5893T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116090776 | ||||||
| chr12:116091108
|
G | A | 2 | a0001c0001t0004g0068a0009c0023t0004g0206 | 2 | HG00280.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.479+5561C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116091108 | ||||||
| chr12:116091120
|
CA | C | 158 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0044others(155): Show | 158 | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(155): Show |
intron_variant | MODIFIER | c.479+5548delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116091120 | ||||||
| chr12:116091120
|
CAA | C | 25 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(22): Show | 25 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(22): Show |
intron_variant | MODIFIER | c.479+5547_479+5548d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116091120 | ||||||
| chr12:116091120
|
CAAA | C | 6 | a0001c0001t0001g0109a0001c0005t0001g0095a0001c0005t0001g0096others(3): Show | 6 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.479+5546_479+5548d others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116091120 | ||||||
| chr12:116091189
|
A | C | 1 | a0001c0001t0001g0246 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.479+5480T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116091189 | ||||||
| chr12:116091270
|
G | A | 2 | a0001c0001t0001g0204a0001c0001t0001g0234 | 2 | HG00558.hp2 NA18957.hp1 |
intron_variant | MODIFIER | c.479+5399C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116091270 | ||||||
| chr12:116091393
|
T | C | 1 | a0001c0003t0016g0253 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.479+5276A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116091393 | ||||||
| chr12:116092030
|
G | C | 60 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(57): Show | 60 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(57): Show |
intron_variant | MODIFIER | c.479+4639C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116092030 | ||||||
| chr12:116092091
|
T | G | 1 | a0001c0001t0003g0007 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.479+4578A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116092091 | ||||||
| chr12:116092133
|
G | A | 43 | a0001c0002t0002g0039a0001c0002t0002g0046a0001c0002t0002g0047others(40): Show | 43 | HG00323.hp2 HG00558.hp1 HG00621.hp2 others(40): Show |
intron_variant | MODIFIER | c.479+4536C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116092133 | ||||||
| chr12:116092295
|
C | T | 1 | a0001c0002t0002g0053 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.479+4374G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116092295 | ||||||
| chr12:116092410
|
C | T | 3 | a0001c0001t0003g0023a0001c0001t0004g0183a0001c0001t0004g0187 | 3 | HG00642.hp1 HG00733.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.479+4259G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116092410 | ||||||
| chr12:116092597
|
C | T | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.479+4072G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116092597 | ||||||
| chr12:116092640
|
A | G | 1 | a0001c0002t0002g0086 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.479+4029T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116092640 | ||||||
| chr12:116092808
|
A | T | 5 | a0001c0002t0002g0065a0001c0002t0002g0066a0001c0002t0002g0073others(2): Show | 5 | HG00741.hp1 HG01515.hp1 HG01516.hp1 others(2): Show |
intron_variant | MODIFIER | c.479+3861T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116092808 | ||||||
| chr12:116093087
|
T | C | 1 | a0001c0001t0003g0011 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.479+3582A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116093087 | ||||||
| chr12:116093548
|
T | C | 1 | a0001c0001t0010g0029 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.479+3121A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116093548 | ||||||
| chr12:116093786
|
T | C | 1 | a0001c0001t0003g0018 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.479+2883A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116093786 | ||||||
| chr12:116093937
|
T | C | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(56): Show |
intron_variant | MODIFIER | c.479+2732A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116093937 | ||||||
| chr12:116093967
|
T | C | 1 | a0001c0001t0001g0214 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.479+2702A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116093967 | ||||||
| chr12:116096056
|
A | C | 60 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(57): Show | 60 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(57): Show |
intron_variant | MODIFIER | c.479+613T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096056 | ||||||
| chr12:116096223
|
C | T | 1 | a0001c0001t0001g0171 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.479+446G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096223 | ||||||
| chr12:116096272
|
C | T | 2 | a0001c0001t0001g0165a0001c0008t0003g0019 | 2 | HG01175.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.479+397G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096272 | ||||||
| chr12:116096313
|
C | A | 1 | a0001c0001t0004g0186 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.479+356G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096313 | ||||||
| chr12:116096350
|
G | T | 4 | a0001c0002t0002g0054a0001c0002t0002g0061a0001c0002t0002g0175others(1): Show | 4 | HG01981.hp1 HG02293.hp1 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.479+319C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096350 | ||||||
| chr12:116096354
|
C | CA | 19 | a0001c0001t0001g0089a0001c0001t0001g0158a0001c0001t0001g0179others(16): Show | 19 | HG00423.hp2 HG00544.hp1 HG00642.hp1 others(16): Show |
intron_variant | MODIFIER | c.479+314dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAA | 10 | a0001c0001t0001g0034a0001c0001t0001g0087a0001c0001t0001g0219others(7): Show | 10 | HG00438.hp1 HG01978.hp1 HG01978.hp2 others(7): Show |
intron_variant | MODIFIER | c.479+313_479+314dup others(2): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAA | 6 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0117others(3): Show | 6 | HG01261.hp2 HG02809.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.479+309_479+314dup others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA | 8 | a0001c0001t0001g0102a0001c0001t0001g0105a0001c0001t0001g0107others(5): Show | 8 | HG00544.hp2 HG00733.hp1 HG02523.hp2 others(5): Show |
intron_variant | MODIFIER | c.479+308_479+314dup others(7): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(1): Show |
5 | a0001c0001t0001g0032a0001c0001t0001g0052a0001c0001t0001g0101others(2): Show | 5 | HG02015.hp1 HG02895.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.479+307_479+314dup others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(2): Show |
8 | a0001c0001t0001g0045a0001c0001t0001g0112a0001c0001t0003g0015others(5): Show | 8 | HG00597.hp2 HG01123.hp1 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.479+306_479+314dup others(9): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(3): Show |
5 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0152others(2): Show | 5 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.479+305_479+314dup others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(4): Show |
14 | a0001c0001t0001g0104a0001c0001t0001g0137a0001c0001t0001g0142others(11): Show | 14 | HG00408.hp2 HG01515.hp2 HG01943.hp2 others(11): Show |
intron_variant | MODIFIER | c.479+304_479+314dup others(11): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(5): Show |
7 | a0001c0001t0001g0149a0001c0001t0001g0162a0001c0001t0001g0251others(4): Show | 7 | HG01071.hp2 HG02074.hp2 HG02738.hp1 others(4): Show |
intron_variant | MODIFIER | c.479+303_479+314dup others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(6): Show |
9 | a0001c0001t0001g0141a0001c0001t0001g0146a0001c0001t0001g0147others(6): Show | 9 | HG01346.hp1 HG02698.hp2 HG03927.hp1 others(6): Show |
intron_variant | MODIFIER | c.479+302_479+314dup others(13): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(7): Show |
8 | a0001c0001t0001g0043a0001c0001t0001g0113a0001c0001t0001g0192others(5): Show | 8 | HG00423.hp1 HG00642.hp2 HG01358.hp1 others(5): Show |
intron_variant | MODIFIER | c.479+301_479+314dup others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(8): Show |
6 | a0001c0001t0001g0041a0001c0001t0001g0161a0001c0001t0001g0214others(3): Show | 6 | HG00323.hp1 HG01517.hp2 NA18963.hp1 others(3): Show |
intron_variant | MODIFIER | c.479+300_479+314dup others(15): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(9): Show |
8 | a0001c0001t0001g0128a0001c0001t0001g0166a0001c0001t0001g0190others(5): Show | 8 | HG01255.hp1 HG03017.hp2 HG03927.hp2 others(5): Show |
intron_variant | MODIFIER | c.479+299_479+314dup others(16): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(10): Show |
5 | a0001c0001t0001g0115a0001c0001t0001g0129a0001c0001t0001g0172others(2): Show | 5 | HG00558.hp2 HG01981.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.479+298_479+314dup others(17): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(11): Show |
2 | a0001c0003t0001g0127a0001c0008t0003g0019 | 2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.479+297_479+314dup others(18): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(12): Show |
1 | a0001c0001t0001g0123 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.479+296_479+314dup others(19): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(13): Show |
4 | a0001c0001t0001g0136a0001c0001t0001g0143a0001c0001t0001g0215others(1): Show | 4 | HG00438.hp2 HG00735.hp2 HG02165.hp2 others(1): Show |
intron_variant | MODIFIER | c.479+295_479+314dup others(20): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(14): Show |
2 | a0001c0001t0001g0082a0005c0018t0001g0217 | 2 | HG01123.hp2 NA18949.hp2 |
intron_variant | MODIFIER | c.479+294_479+314dup others(21): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(15): Show |
7 | a0001c0001t0001g0044a0001c0001t0001g0139a0001c0001t0001g0160others(4): Show | 7 | HG03130.hp2 HG03225.hp2 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.479+293_479+314dup others(22): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(16): Show |
2 | a0001c0001t0001g0118a0001c0001t0001g0203 | 2 | HG02559.hp1 NA19074.hp2 |
intron_variant | MODIFIER | c.479+292_479+314dup others(23): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(17): Show |
2 | a0001c0001t0001g0193a0001c0016t0001g0167 | 2 | NA18950.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.479+291_479+314dup others(24): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(18): Show |
1 | a0001c0001t0001g0165 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.479+290_479+314dup others(25): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(19): Show |
4 | a0001c0001t0001g0071a0001c0001t0001g0205a0001c0001t0001g0213others(1): Show | 4 | HG00597.hp1 HG03239.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.479+289_479+314dup others(26): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(20): Show |
3 | a0001c0001t0001g0070a0001c0001t0001g0208a0001c0001t0001g0212 | 3 | HG00408.hp1 HG02630.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.479+288_479+314dup others(27): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(21): Show |
3 | a0001c0001t0001g0170a0001c0001t0001g0218a0001c0001t0003g0020 | 3 | HG00673.hp1 HG02071.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.479+314_479+315ins others(28): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(22): Show |
1 | a0001c0004t0001g0244 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.479+314_479+315ins others(29): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(24): Show |
2 | a0001c0001t0001g0235a0001c0001t0006g0013 | 2 | HG01261.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.479+314_479+315ins others(31): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(26): Show |
1 | a0001c0001t0001g0169 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.479+314_479+315ins others(33): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(27): Show |
1 | a0001c0001t0001g0191 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.479+314_479+315ins others(34): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(29): Show |
1 | a0001c0001t0001g0069 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.479+314_479+315ins others(36): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
C | CAAAAAAA others(31): Show |
1 | a0001c0001t0001g0194 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.479+314_479+315ins others(38): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
CAA | C | 12 | a0001c0002t0002g0039a0001c0002t0002g0054a0001c0002t0002g0058others(9): Show | 12 | HG00621.hp2 HG01346.hp2 HG01981.hp1 others(9): Show |
intron_variant | MODIFIER | c.479+313_479+314del others(2): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
CAAA | C | 45 | a0001c0001t0001g0130a0001c0002t0002g0038a0001c0002t0002g0046others(42): Show | 45 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(42): Show |
intron_variant | MODIFIER | c.479+312_479+314del others(3): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
CAAAAAAA others(4): Show |
C | 1 | a0004c0022t0001g0189 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.479+304_479+314del others(11): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096354
|
CAAAAAAA others(8): Show |
C | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.479+300_479+314del others(15): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096354 | ||||||
| chr12:116096442
|
A | G | 1 | a0001c0001t0001g0208 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.479+227T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096442 | ||||||
| chr12:116096634
|
G | A | 2 | a0001c0001t0001g0228a0001c0001t0003g0011 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.479+35C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | 116096634 | ||||||
| chr12:116097074
|
T | C | 13 | a0001c0001t0001g0179a0001c0001t0001g0220a0001c0001t0001g0221others(10): Show | 13 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(10): Show |
intron_variant | MODIFIER | c.396-322A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116097074 | ||||||
| chr12:116097151
|
T | A | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.396-399A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116097151 | ||||||
| chr12:116097155
|
G | GT | 7 | a0001c0001t0001g0245a0001c0001t0005g0184a0001c0002t0002g0085others(4): Show | 7 | HG00741.hp1 HG02145.hp2 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.396-404dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116097155 | ||||||
| chr12:116097217
|
C | T | 9 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(6): Show | 9 | HG02257.hp1 HG02559.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.396-465G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116097217 | ||||||
| chr12:116097291
|
G | A | 3 | a0001c0002t0002g0059a0001c0002t0002g0063a0001c0002t0002g0176 | 3 | NA18950.hp1 NA18964.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.396-539C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116097291 | ||||||
| chr12:116097573
|
G | C | 1 | a0001c0001t0003g0016 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.396-821C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116097573 | ||||||
| chr12:116097912
|
C | A | 1 | a0001c0001t0001g0205 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.396-1160G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116097912 | ||||||
| chr12:116097931
|
G | C | 54 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(51): Show | 54 | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(51): Show |
intron_variant | MODIFIER | c.396-1179C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116097931 | ||||||
| chr12:116098171
|
G | A | 11 | a0001c0001t0001g0243a0001c0001t0008g0005a0001c0004t0001g0067others(8): Show | 11 | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(8): Show |
intron_variant | MODIFIER | c.396-1419C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116098171 | ||||||
| chr12:116098355
|
T | C | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.396-1603A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116098355 | ||||||
| chr12:116098445
|
A | G | 1 | a0001c0001t0001g0227 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.396-1693T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116098445 | ||||||
| chr12:116098449
|
A | G | 1 | a0007c0015t0001g0033 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.396-1697T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116098449 | ||||||
| chr12:116098474
|
G | A | 1 | a0001c0001t0001g0215 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.396-1722C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116098474 | ||||||
| chr12:116098624
|
C | CAG | 61 | a0001c0001t0001g0102a0001c0001t0001g0112a0001c0002t0002g0038others(58): Show | 61 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(58): Show |
intron_variant | MODIFIER | c.396-1874_396-1873d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116098624 | ||||||
| chr12:116098710
|
T | G | 1 | a0001c0002t0002g0198 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.396-1958A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116098710 | ||||||
| chr12:116098740
|
G | A | 1 | a0001c0001t0001g0143 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.396-1988C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116098740 | ||||||
| chr12:116098752
|
C | T | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.396-2000G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116098752 | ||||||
| chr12:116098884
|
G | C | 2 | a0001c0001t0001g0204a0001c0001t0001g0234 | 2 | HG00558.hp2 NA18957.hp1 |
intron_variant | MODIFIER | c.396-2132C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116098884 | ||||||
| chr12:116099002
|
C | T | 9 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(6): Show | 9 | HG02257.hp1 HG02559.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.396-2250G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116099002 | ||||||
| chr12:116099116
|
G | A | 136 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0043others(133): Show | 136 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.396-2364C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116099116 | ||||||
| chr12:116099126
|
A | C | 1 | a0001c0002t0009g0031 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.396-2374T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116099126 | ||||||
| chr12:116100110
|
T | C | 1 | a0001c0001t0005g0184 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.396-3358A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116100110 | ||||||
| chr12:116100223
|
A | G | 1 | a0001c0008t0003g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.396-3471T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116100223 | ||||||
| chr12:116100296
|
C | A | 1 | a0001c0004t0001g0211 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.396-3544G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116100296 | ||||||
| chr12:116100598
|
C | CA | 32 | a0001c0001t0001g0034a0001c0001t0001g0041a0001c0001t0001g0043others(29): Show | 32 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(29): Show |
intron_variant | MODIFIER | c.396-3847dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116100598 | ||||||
| chr12:116100598
|
CA | C | 57 | a0001c0001t0001g0102a0001c0001t0001g0121a0001c0001t0001g0129others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.396-3847delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116100598 | ||||||
| chr12:116100598
|
CAA | C | 17 | a0001c0001t0001g0101a0001c0001t0001g0105a0001c0001t0001g0107others(14): Show | 17 | HG00423.hp2 HG00544.hp2 HG01123.hp1 others(14): Show |
intron_variant | MODIFIER | c.396-3848_396-3847d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116100598 | ||||||
| chr12:116100933
|
C | A | 1 | a0001c0002t0002g0062 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.396-4181G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116100933 | ||||||
| chr12:116101049
|
A | G | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.396-4297T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116101049 | ||||||
| chr12:116101062
|
A | C | 1 | a0001c0002t0002g0084 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.396-4310T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116101062 | ||||||
| chr12:116101579
|
G | C | 36 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(33): Show | 36 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.396-4827C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116101579 | ||||||
| chr12:116101614
|
T | C | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.396-4862A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116101614 | ||||||
| chr12:116102377
|
C | T | 1 | a0008c0011t0002g0132 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.396-5625G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102377 | ||||||
| chr12:116102422
|
G | A | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.396-5670C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102422 | ||||||
| chr12:116102529
|
C | G | 1 | a0001c0001t0003g0018 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.396-5777G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102529 | ||||||
| chr12:116102596
|
C | T | 1 | a0001c0001t0014g0106 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.396-5844G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102596 | ||||||
| chr12:116102673
|
G | A | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(54): Show |
intron_variant | MODIFIER | c.396-5921C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102673 | ||||||
| chr12:116102686
|
ATTTTCT | A | 12 | a0001c0001t0001g0243a0001c0001t0008g0005a0001c0004t0001g0067others(9): Show | 12 | HG00280.hp1 HG00323.hp1 HG00642.hp2 others(9): Show |
intron_variant | MODIFIER | c.396-5940_396-5935d others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102686 | ||||||
| chr12:116102691
|
CTTTTTCT others(22): Show |
C | 2 | a0001c0002t0002g0056a0001c0002t0002g0057 | 2 | HG00558.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.396-5968_396-5940d others(31): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102691 | ||||||
| chr12:116102691
|
CTTTTTCT others(23): Show |
C | 54 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0047others(51): Show | 54 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(51): Show |
intron_variant | MODIFIER | c.396-5969_396-5940d others(32): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102691 | ||||||
| chr12:116102691
|
CTTTTTCT others(24): Show |
C | 1 | a0001c0002t0002g0046 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.396-5970_396-5940d others(33): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102691 | ||||||
| chr12:116102697
|
C | CT | 5 | a0001c0001t0001g0043a0001c0001t0001g0139a0001c0001t0001g0146others(2): Show | 5 | HG00423.hp1 HG03710.hp2 NA18948.hp1 others(2): Show |
intron_variant | MODIFIER | c.396-5946dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102697 | ||||||
| chr12:116102697
|
CTTTTTCT | C | 20 | a0001c0001t0001g0032a0001c0001t0001g0082a0001c0001t0001g0105others(17): Show | 20 | HG00544.hp2 HG00597.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.396-5952_396-5946d others(9): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102697 | ||||||
| chr12:116102697
|
CTTTTTCT others(10): Show |
C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.396-5962_396-5946d others(19): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102697 | ||||||
| chr12:116102697
|
CTTTTTCT others(14): Show |
C | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.396-5966_396-5946d others(23): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102697 | ||||||
| chr12:116102698
|
TTTTTC | T | 3 | a0001c0001t0001g0219a0001c0001t0004g0068a0001c0001t0004g0210 | 3 | HG00735.hp1 HG01175.hp2 HG03688.hp2 |
intron_variant | MODIFIER | c.396-5951_396-5947d others(7): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102698 | ||||||
| chr12:116102700
|
TTTC | T | 13 | a0001c0001t0001g0044a0001c0001t0001g0113a0001c0001t0001g0137others(10): Show | 13 | HG01071.hp2 HG01943.hp2 HG02015.hp2 others(10): Show |
intron_variant | MODIFIER | c.396-5951_396-5949d others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102700 | ||||||
| chr12:116102701
|
TTC | T | 7 | a0001c0001t0001g0045a0001c0001t0001g0150a0001c0001t0001g0196others(4): Show | 7 | HG01346.hp1 HG01515.hp2 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.396-5951_396-5950d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102701 | ||||||
| chr12:116102702
|
T | TTC | 4 | a0001c0001t0001g0104a0001c0001t0001g0147a0001c0001t0010g0029others(1): Show | 4 | HG00408.hp2 NA18939.hp1 NA18946.hp1 others(1): Show |
intron_variant | MODIFIER | c.396-5951_396-5950i others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102702 | ||||||
| chr12:116102703
|
C | T | 9 | a0001c0001t0001g0104a0001c0001t0001g0123a0001c0001t0001g0141others(6): Show | 9 | HG00408.hp2 HG03516.hp2 HG03927.hp1 others(6): Show |
intron_variant | MODIFIER | c.396-5951G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102703 | ||||||
| chr12:116102703
|
CTTTTTT | C | 3 | a0001c0001t0001g0228a0001c0001t0004g0202a0001c0001t0004g0239 | 3 | HG00639.hp1 HG03195.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.396-5957_396-5952d others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102703 | ||||||
| chr12:116102704
|
T | C | 3 | a0001c0001t0001g0141a0001c0001t0001g0251a0001c0001t0003g0011 | 3 | HG02145.hp1 HG03516.hp2 NA18612.hp1 |
intron_variant | MODIFIER | c.396-5952A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102704 | ||||||
| chr12:116102704
|
TTTTTTC | T | 5 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0112others(2): Show | 5 | HG00733.hp1 HG01123.hp1 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.396-5958_396-5953d others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102704 | ||||||
| chr12:116102705
|
T | C | 2 | a0001c0001t0001g0145a0001c0001t0003g0004 | 2 | HG02280.hp1 NA18966.hp2 |
intron_variant | MODIFIER | c.396-5953A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102705 | ||||||
| chr12:116102706
|
T | C | 7 | a0001c0001t0001g0045a0001c0001t0001g0150a0001c0001t0001g0196others(4): Show | 7 | HG01346.hp1 HG01515.hp2 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.396-5954A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102706 | ||||||
| chr12:116102707
|
T | C | 12 | a0001c0001t0001g0044a0001c0001t0001g0113a0001c0001t0001g0137others(9): Show | 12 | HG01071.hp2 HG01943.hp2 HG02015.hp2 others(9): Show |
intron_variant | MODIFIER | c.396-5955A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102707 | ||||||
| chr12:116102708
|
T | C | 1 | a0001c0001t0001g0152 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.396-5956A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102708 | ||||||
| chr12:116102709
|
T | C | 4 | a0001c0001t0001g0035a0001c0001t0001g0219a0001c0001t0004g0068others(1): Show | 4 | HG00735.hp1 HG01175.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.396-5957A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102709 | ||||||
| chr12:116102710
|
C | CT | 25 | a0001c0001t0001g0071a0001c0001t0001g0128a0001c0001t0001g0160others(22): Show | 25 | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(22): Show |
intron_variant | MODIFIER | c.396-5959dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102710 | ||||||
| chr12:116102710
|
C | CTTTTTTT others(3): Show |
1 | a0001c0001t0003g0006 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.396-5968_396-5959d others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102710 | ||||||
| chr12:116102710
|
C | CTTTTTTT others(5): Show |
2 | a0001c0001t0001g0158a0001c0001t0001g0195 | 2 | HG02109.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.396-5970_396-5959d others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102710 | ||||||
| chr12:116102710
|
C | CTTTTTTT others(6): Show |
1 | a0001c0001t0001g0168 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.396-5971_396-5959d others(15): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102710 | ||||||
| chr12:116102710
|
C | CTTTTTTT others(7): Show |
1 | a0001c0001t0001g0159 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.396-5972_396-5959d others(16): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102710 | ||||||
| chr12:116102710
|
C | T | 38 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(35): Show | 38 | HG00408.hp2 HG00423.hp1 HG00735.hp1 others(35): Show |
intron_variant | MODIFIER | c.396-5958G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102710 | ||||||
| chr12:116102710
|
CTTTTTTT others(1): Show |
C | 7 | a0001c0001t0005g0184a0001c0003t0001g0126a0001c0003t0001g0127others(4): Show | 7 | HG02145.hp2 HG02895.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.396-5966_396-5959d others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102710 | ||||||
| chr12:116102710
|
CTTTTTTT others(3): Show |
C | 9 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(6): Show | 9 | HG00280.hp2 HG00741.hp2 HG02083.hp1 others(6): Show |
intron_variant | MODIFIER | c.396-5968_396-5959d others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102710 | ||||||
| chr12:116102717
|
T | C | 11 | a0001c0001t0001g0243a0001c0001t0008g0005a0001c0004t0001g0067others(8): Show | 11 | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(8): Show |
intron_variant | MODIFIER | c.396-5965A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102717 | ||||||
| chr12:116102854
|
C | T | 85 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(82): Show | 85 | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(82): Show |
intron_variant | MODIFIER | c.396-6102G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102854 | ||||||
| chr12:116102965
|
C | G | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.396-6213G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116102965 | ||||||
| chr12:116103022
|
A | T | 1 | a0001c0001t0004g0210 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.396-6270T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103022 | ||||||
| chr12:116103049
|
G | GTGCCCTA others(27): Show |
1 | a0001c0001t0001g0128 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.396-6331_396-6298d others(36): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103049 | ||||||
| chr12:116103280
|
G | A | 1 | a0001c0001t0001g0166 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.396-6528C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103280 | ||||||
| chr12:116103490
|
T | C | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.396-6738A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103490 | ||||||
| chr12:116103533
|
T | TG | 11 | a0001c0001t0001g0243a0001c0001t0008g0005a0001c0004t0001g0067others(8): Show | 11 | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(8): Show |
intron_variant | MODIFIER | c.396-6782dupC | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103533 | ||||||
| chr12:116103790
|
T | C | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.396-7038A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103790 | ||||||
| chr12:116103869
|
G | A | 3 | a0001c0001t0001g0172a0001c0001t0001g0191a0001c0004t0001g0244 | 3 | HG01255.hp2 HG01943.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.396-7117C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103869 | ||||||
| chr12:116103957
|
T | C | 1 | a0001c0002t0002g0078 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.396-7205A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103957 | ||||||
| chr12:116103964
|
G | A | 1 | a0001c0013t0001g0225 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.396-7212C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103964 | ||||||
| chr12:116103999
|
C | CT | 6 | a0001c0001t0001g0123a0001c0001t0004g0120a0001c0001t0004g0230others(3): Show | 6 | HG00140.hp1 HG00735.hp2 HG01943.hp2 others(3): Show |
intron_variant | MODIFIER | c.396-7248dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103999 | ||||||
| chr12:116103999
|
C | CTT | 6 | a0001c0001t0001g0243a0001c0002t0002g0178a0001c0002t0002g0180others(3): Show | 6 | HG00140.hp2 HG01255.hp1 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.396-7249_396-7248d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103999 | ||||||
| chr12:116103999
|
C | CTTT | 16 | a0001c0002t0002g0048a0001c0002t0002g0050a0001c0002t0002g0057others(13): Show | 16 | HG00639.hp2 HG01071.hp1 HG01074.hp1 others(13): Show |
intron_variant | MODIFIER | c.396-7250_396-7248d others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103999 | ||||||
| chr12:116103999
|
C | CTTTT | 23 | a0001c0002t0002g0039a0001c0002t0002g0051a0001c0002t0002g0054others(20): Show | 23 | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(20): Show |
intron_variant | MODIFIER | c.396-7251_396-7248d others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103999 | ||||||
| chr12:116103999
|
C | CTTTTTT | 7 | a0001c0002t0002g0047a0001c0002t0002g0053a0001c0002t0002g0060others(4): Show | 7 | HG02451.hp1 HG03492.hp1 HG03704.hp2 others(4): Show |
intron_variant | MODIFIER | c.396-7253_396-7248d others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103999 | ||||||
| chr12:116103999
|
C | CTTTTTTT others(4): Show |
1 | a0001c0002t0009g0030 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.396-7258_396-7248d others(13): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103999 | ||||||
| chr12:116103999
|
C | CTTTTTTT others(6): Show |
1 | a0001c0002t0002g0049 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.396-7260_396-7248d others(15): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103999 | ||||||
| chr12:116103999
|
CT | C | 86 | a0001c0001t0001g0032a0001c0001t0001g0043a0001c0001t0001g0044others(83): Show | 86 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(83): Show |
intron_variant | MODIFIER | c.396-7248delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103999 | ||||||
| chr12:116103999
|
CTT | C | 55 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0041others(52): Show | 55 | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.396-7249_396-7248d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103999 | ||||||
| chr12:116103999
|
CTTTTTTT others(4): Show |
C | 1 | a0001c0002t0002g0038 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.396-7258_396-7248d others(13): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103999 | ||||||
| chr12:116103999
|
CTTTTTTT others(6): Show |
C | 1 | a0001c0001t0004g0186 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.396-7260_396-7248d others(15): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116103999 | ||||||
| chr12:116104125
|
C | T | 2 | a0001c0001t0001g0101a0001c0001t0003g0003 | 2 | HG02486.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.395+7303G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116104125 | ||||||
| chr12:116104145
|
G | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.395+7283C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116104145 | ||||||
| chr12:116104305
|
G | A | 2 | a0001c0001t0001g0231a0001c0001t0001g0248 | 2 | NA18966.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.395+7123C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116104305 | ||||||
| chr12:116104535
|
A | G | 9 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(6): Show | 9 | HG02257.hp1 HG02559.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.395+6893T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116104535 | ||||||
| chr12:116104587
|
G | A | 1 | a0001c0005t0001g0096 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.395+6841C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116104587 | ||||||
| chr12:116104590
|
G | A | 1 | a0001c0001t0001g0145 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.395+6838C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116104590 | ||||||
| chr12:116105486
|
G | A | 1 | a0001c0001t0005g0138 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.395+5942C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116105486 | ||||||
| chr12:116105531
|
T | A | 1 | a0001c0001t0001g0219 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.395+5897A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116105531 | ||||||
| chr12:116105571
|
A | G | 3 | a0001c0001t0001g0107a0001c0001t0001g0109a0001c0001t0001g0122 | 3 | NA18945.hp1 NA18965.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.395+5857T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116105571 | ||||||
| chr12:116105872
|
C | T | 1 | a0001c0001t0001g0108 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.395+5556G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116105872 | ||||||
| chr12:116106315
|
A | G | 1 | a0008c0011t0002g0132 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.395+5113T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116106315 | ||||||
| chr12:116106418
|
C | T | 2 | a0001c0001t0001g0100a0003c0009t0001g0200 | 2 | HG01168.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.395+5010G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116106418 | ||||||
| chr12:116106420
|
AAGAAATG others(6): Show |
A | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.395+4995_395+5007d others(15): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116106420 | ||||||
| chr12:116106504
|
C | G | 1 | a0001c0003t0001g0140 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.395+4924G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116106504 | ||||||
| chr12:116106557
|
T | C | 3 | a0001c0002t0002g0049a0001c0002t0002g0084a0001c0002t0009g0030 | 3 | HG00323.hp2 NA19060.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.395+4871A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116106557 | ||||||
| chr12:116106583
|
G | A | 2 | a0001c0001t0001g0228a0001c0001t0003g0011 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.395+4845C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116106583 | ||||||
| chr12:116106611
|
G | A | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.395+4817C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116106611 | ||||||
| chr12:116106832
|
C | T | 1 | a0001c0003t0003g0024 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.395+4596G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116106832 | ||||||
| chr12:116106858
|
GA | G | 22 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(19): Show | 22 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.395+4569delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116106858 | ||||||
| chr12:116106859
|
A | G | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.395+4569T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116106859 | ||||||
| chr12:116106863
|
A | T | 1 | a0003c0009t0001g0200 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.395+4565T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116106863 | ||||||
| chr12:116106960
|
A | C | 2 | a0001c0001t0001g0101a0001c0001t0003g0003 | 2 | HG02486.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.395+4468T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116106960 | ||||||
| chr12:116107244
|
G | A | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.395+4184C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116107244 | ||||||
| chr12:116107285
|
G | A | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.395+4143C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116107285 | ||||||
| chr12:116107316
|
G | C | 22 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(19): Show | 22 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.395+4112C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116107316 | ||||||
| chr12:116107685
|
C | G | 1 | a0001c0002t0002g0084 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.395+3743G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116107685 | ||||||
| chr12:116108114
|
A | C | 104 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(101): Show | 104 | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(101): Show |
intron_variant | MODIFIER | c.395+3314T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116108114 | ||||||
| chr12:116108338
|
G | A | 1 | a0001c0001t0001g0214 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.395+3090C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116108338 | ||||||
| chr12:116108371
|
T | C | 1 | a0001c0002t0002g0076 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.395+3057A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116108371 | ||||||
| chr12:116108390
|
A | AG | 82 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0041others(79): Show | 82 | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(79): Show |
intron_variant | MODIFIER | c.395+3037dupC | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116108390 | ||||||
| chr12:116108390
|
A | AGG | 47 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0092others(44): Show | 47 | HG00140.hp2 HG00423.hp2 HG00597.hp2 others(44): Show |
intron_variant | MODIFIER | c.395+3036_395+3037d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116108390 | ||||||
| chr12:116108390
|
AG | A | 30 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0104others(27): Show | 30 | HG00408.hp2 HG01071.hp2 HG01346.hp1 others(27): Show |
intron_variant | MODIFIER | c.395+3037delC | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116108390 | ||||||
| chr12:116108402
|
C | G | 1 | a0001c0002t0002g0054 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.395+3026G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116108402 | ||||||
| chr12:116108403
|
G | C | 1 | a0001c0002t0002g0180 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.395+3025C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116108403 | ||||||
| chr12:116108404
|
C | T | 66 | a0001c0001t0001g0243a0001c0002t0002g0038a0001c0002t0002g0039others(63): Show | 66 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(63): Show |
intron_variant | MODIFIER | c.395+3024G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116108404 | ||||||
| chr12:116108405
|
G | A | 8 | a0001c0001t0005g0184a0001c0003t0001g0126a0001c0003t0001g0127others(5): Show | 8 | HG02145.hp2 HG02486.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.395+3023C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116108405 | ||||||
| chr12:116108617
|
G | T | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.395+2811C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116108617 | ||||||
| chr12:116109060
|
C | CT | 17 | a0001c0001t0001g0158a0001c0001t0001g0159a0001c0001t0001g0168others(14): Show | 17 | HG00323.hp1 HG00639.hp1 HG00642.hp2 others(14): Show |
intron_variant | MODIFIER | c.395+2367dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116109060 | ||||||
| chr12:116109060
|
C | CTT | 5 | a0001c0001t0001g0220a0001c0001t0001g0223a0001c0004t0001g0182others(2): Show | 5 | HG00544.hp1 HG01358.hp1 HG01516.hp2 others(2): Show |
intron_variant | MODIFIER | c.395+2366_395+2367d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116109060 | ||||||
| chr12:116109073
|
TTTTTTTT others(8): Show |
T | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.395+2340_395+2354d others(17): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116109073 | ||||||
| chr12:116109078
|
TTTTTTTT others(3): Show |
T | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.395+2340_395+2349d others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116109078 | ||||||
| chr12:116109084
|
TTTTG | T | 50 | a0001c0002t0002g0038a0001c0002t0002g0046a0001c0002t0002g0047others(47): Show | 50 | HG00140.hp2 HG00323.hp2 HG00621.hp2 others(47): Show |
intron_variant | MODIFIER | c.395+2340_395+2343d others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116109084 | ||||||
| chr12:116109085
|
TTTG | T | 9 | a0001c0001t0001g0139a0001c0001t0001g0166a0001c0001t0001g0190others(6): Show | 9 | HG00423.hp2 HG00558.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.395+2340_395+2342d others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116109085 | ||||||
| chr12:116109086
|
TTG | T | 114 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0041others(111): Show | 114 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(111): Show |
intron_variant | MODIFIER | c.395+2340_395+2341d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116109086 | ||||||
| chr12:116109087
|
TG | T | 20 | a0001c0001t0001g0035a0001c0001t0001g0082a0001c0001t0001g0125others(17): Show | 20 | HG00544.hp2 HG00741.hp2 HG01943.hp2 others(17): Show |
intron_variant | MODIFIER | c.395+2340delC | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116109087 | ||||||
| chr12:116109088
|
G | T | 13 | a0001c0001t0001g0162a0001c0001t0001g0243a0001c0001t0007g0002others(10): Show | 13 | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(10): Show |
intron_variant | MODIFIER | c.395+2340C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116109088 | ||||||
| chr12:116109457
|
A | C | 1 | a0001c0001t0001g0229 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.395+1971T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116109457 | ||||||
| chr12:116109537
|
C | G | 1 | a0001c0002t0002g0180 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.395+1891G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116109537 | ||||||
| chr12:116109676
|
T | G | 22 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(19): Show | 22 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.395+1752A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116109676 | ||||||
| chr12:116109768
|
C | T | 2 | a0001c0002t0002g0047a0001c0002t0002g0086 | 2 | HG02698.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.395+1660G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116109768 | ||||||
| chr12:116109904
|
G | A | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.395+1524C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116109904 | ||||||
| chr12:116110184
|
G | A | 1 | a0001c0001t0001g0104 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.395+1244C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110184 | ||||||
| chr12:116110199
|
T | C | 1 | a0006c0019t0001g0099 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.395+1229A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110199 | ||||||
| chr12:116110226
|
C | T | 1 | a0001c0001t0001g0105 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.395+1202G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110226 | ||||||
| chr12:116110331
|
C | T | 5 | a0001c0001t0005g0042a0001c0001t0005g0138a0001c0001t0005g0144others(2): Show | 5 | HG01071.hp2 HG01346.hp1 HG01943.hp2 others(2): Show |
intron_variant | MODIFIER | c.395+1097G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110331 | ||||||
| chr12:116110357
|
T | TTAAA | 21 | a0001c0001t0001g0035a0001c0001t0001g0109a0001c0001t0001g0121others(18): Show | 21 | HG01261.hp1 HG01358.hp1 HG02074.hp2 others(18): Show |
intron_variant | MODIFIER | c.395+1067_395+1070d others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110357 | ||||||
| chr12:116110357
|
T | TTAAATAA others(1): Show |
3 | a0001c0001t0001g0101a0001c0003t0012g0110a0001c0005t0001g0098 | 3 | HG02280.hp2 HG02895.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.395+1063_395+1070d others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110357 | ||||||
| chr12:116110357
|
TTAAA | T | 15 | a0001c0001t0001g0034a0001c0001t0001g0093a0001c0001t0001g0104others(12): Show | 15 | HG00408.hp2 HG00735.hp2 HG02071.hp1 others(12): Show |
intron_variant | MODIFIER | c.395+1067_395+1070d others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110357 | ||||||
| chr12:116110357
|
TTAAATAA others(1): Show |
T | 2 | a0001c0001t0001g0204a0001c0002t0002g0075 | 2 | HG01074.hp1 NA18957.hp1 |
intron_variant | MODIFIER | c.395+1063_395+1070d others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110357 | ||||||
| chr12:116110357
|
TTAAATAA others(9): Show |
T | 3 | a0001c0001t0001g0113a0001c0001t0001g0153a0001c0020t0001g0114 | 3 | NA18962.hp1 NA19009.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.395+1055_395+1070d others(18): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110357 | ||||||
| chr12:116110365
|
A | AT | 10 | a0001c0002t0002g0038a0001c0002t0002g0054a0001c0002t0002g0058others(7): Show | 10 | HG00639.hp2 HG01071.hp1 HG01168.hp2 others(7): Show |
intron_variant | MODIFIER | c.395+1062dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110365 | ||||||
| chr12:116110381
|
A | G | 1 | a0001c0001t0001g0133 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.395+1047T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110381 | ||||||
| chr12:116110382
|
T | G | 1 | a0001c0001t0001g0133 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.395+1046A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110382 | ||||||
| chr12:116110388
|
A | AATAAATA others(1): Show |
7 | a0001c0002t0002g0051a0001c0002t0002g0060a0001c0002t0002g0072others(4): Show | 7 | HG03209.hp1 HG03516.hp1 HG03831.hp2 others(4): Show |
intron_variant | MODIFIER | c.395+1039_395+1040i others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110388 | ||||||
| chr12:116110388
|
A | AATAG | 41 | a0001c0002t0002g0039a0001c0002t0002g0046a0001c0002t0002g0047others(38): Show | 41 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(38): Show |
intron_variant | MODIFIER | c.395+1039_395+1040i others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110388 | ||||||
| chr12:116110388
|
A | G | 11 | a0001c0002t0002g0038a0001c0002t0002g0054a0001c0002t0002g0058others(8): Show | 11 | HG00639.hp2 HG01071.hp1 HG01074.hp1 others(8): Show |
intron_variant | MODIFIER | c.395+1040T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110388 | ||||||
| chr12:116110744
|
G | A | 48 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(45): Show | 48 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(45): Show |
intron_variant | MODIFIER | c.395+684C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110744 | ||||||
| chr12:116110933
|
T | A | 1 | a0001c0002t0002g0175 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.395+495A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116110933 | ||||||
| chr12:116111368
|
T | C | 16 | a0001c0001t0001g0087a0001c0001t0001g0179a0001c0001t0001g0219others(13): Show | 16 | HG00438.hp1 HG00544.hp1 HG00642.hp2 others(13): Show |
intron_variant | MODIFIER | c.395+60A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116111368 | ||||||
| chr12:116111369
|
C | T | 2 | a0001c0001t0004g0068a0009c0023t0004g0206 | 2 | HG00280.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.395+59G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | 116111369 | ||||||
| chr12:116111788
|
A | G | 1 | a0002c0007t0002g0088 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.311-276T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116111788 | ||||||
| chr12:116111815
|
A | G | 2 | a0001c0001t0001g0204a0001c0001t0001g0234 | 2 | HG00558.hp2 NA18957.hp1 |
intron_variant | MODIFIER | c.311-303T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116111815 | ||||||
| chr12:116111895
|
A | G | 1 | a0001c0005t0001g0098 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.311-383T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116111895 | ||||||
| chr12:116112717
|
T | C | 1 | a0001c0001t0003g0006 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.311-1205A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116112717 | ||||||
| chr12:116113415
|
T | C | 9 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(6): Show | 9 | HG02257.hp1 HG02559.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.311-1903A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116113415 | ||||||
| chr12:116113484
|
A | T | 58 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.311-1972T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116113484 | ||||||
| chr12:116113488
|
T | TTA | 39 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(36): Show | 39 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(36): Show |
intron_variant | MODIFIER | c.311-1978_311-1977d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116113488 | ||||||
| chr12:116113503
|
A | T | 4 | a0001c0001t0005g0184a0001c0003t0001g0164a0001c0003t0001g0185others(1): Show | 4 | HG02145.hp2 HG02895.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.311-1991T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116113503 | ||||||
| chr12:116113642
|
G | C | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.311-2130C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116113642 | ||||||
| chr12:116113766
|
TAAGAGGG others(18): Show |
T | 5 | a0001c0001t0001g0032a0001c0001t0001g0103a0001c0001t0003g0015others(2): Show | 5 | HG00597.hp2 NA18972.hp2 NA18992.hp1 others(2): Show |
intron_variant | MODIFIER | c.311-2279_311-2255d others(27): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116113766 | ||||||
| chr12:116113807
|
G | C | 1 | a0001c0001t0001g0145 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.311-2295C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116113807 | ||||||
| chr12:116113834
|
G | A | 1 | a0001c0001t0004g0201 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.311-2322C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116113834 | ||||||
| chr12:116113869
|
G | C | 1 | a0001c0003t0001g0185 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.311-2357C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116113869 | ||||||
| chr12:116113875
|
A | T | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-2363T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116113875 | ||||||
| chr12:116113893
|
A | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-2381T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116113893 | ||||||
| chr12:116114213
|
T | A | 4 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(1): Show | 4 | HG02559.hp1 HG02615.hp1 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.311-2701A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116114213 | ||||||
| chr12:116114453
|
T | G | 1 | a0001c0001t0001g0069 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.311-2941A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116114453 | ||||||
| chr12:116114628
|
T | A | 4 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(1): Show | 4 | HG02559.hp1 HG02615.hp1 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.311-3116A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116114628 | ||||||
| chr12:116114658
|
G | A | 2 | a0001c0001t0001g0228a0001c0001t0003g0011 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.311-3146C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116114658 | ||||||
| chr12:116114722
|
A | G | 2 | a0001c0001t0001g0115a0001c0001t0001g0118 | 2 | HG02559.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.311-3210T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116114722 | ||||||
| chr12:116114767
|
T | C | 1 | a0009c0023t0004g0206 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.311-3255A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116114767 | ||||||
| chr12:116114946
|
A | G | 4 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(1): Show | 4 | HG02165.hp1 NA18955.hp2 NA18962.hp2 others(1): Show |
intron_variant | MODIFIER | c.311-3434T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116114946 | ||||||
| chr12:116115148
|
G | A | 1 | a0001c0001t0001g0216 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.311-3636C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116115148 | ||||||
| chr12:116115262
|
T | A | 3 | a0001c0001t0004g0068a0001c0001t0004g0210a0009c0023t0004g0206 | 3 | HG00280.hp1 HG00735.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.311-3750A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116115262 | ||||||
| chr12:116115451
|
A | C | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.311-3939T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116115451 | ||||||
| chr12:116115476
|
A | G | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.311-3964T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116115476 | ||||||
| chr12:116116046
|
A | T | 1 | a0001c0002t0011g0124 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.311-4534T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116116046 | ||||||
| chr12:116116328
|
A | G | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.311-4816T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116116328 | ||||||
| chr12:116116332
|
T | C | 1 | a0001c0001t0004g0201 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.311-4820A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116116332 | ||||||
| chr12:116116416
|
G | A | 8 | a0001c0001t0001g0243a0001c0004t0001g0067a0001c0004t0001g0181others(5): Show | 8 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(5): Show |
intron_variant | MODIFIER | c.311-4904C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116116416 | ||||||
| chr12:116116530
|
A | C | 1 | a0001c0001t0005g0184 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.311-5018T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116116530 | ||||||
| chr12:116116882
|
T | C | 1 | a0001c0001t0004g0040 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.311-5370A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116116882 | ||||||
| chr12:116116928
|
T | C | 1 | a0001c0002t0002g0038 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.311-5416A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116116928 | ||||||
| chr12:116117008
|
T | C | 1 | a0001c0002t0002g0078 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.311-5496A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116117008 | ||||||
| chr12:116117124
|
G | A | 1 | a0004c0022t0001g0189 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.311-5612C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116117124 | ||||||
| chr12:116117184
|
T | C | 1 | a0001c0002t0002g0047 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.311-5672A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116117184 | ||||||
| chr12:116117686
|
T | C | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.311-6174A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116117686 | ||||||
| chr12:116117981
|
A | T | 58 | a0001c0002t0002g0038a0001c0002t0002g0046a0001c0002t0002g0047others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(55): Show |
intron_variant | MODIFIER | c.311-6469T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116117981 | ||||||
| chr12:116117982
|
A | T | 1 | a0001c0002t0002g0039 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.311-6470T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116117982 | ||||||
| chr12:116118088
|
T | C | 1 | a0001c0001t0001g0204 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.311-6576A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116118088 | ||||||
| chr12:116118248
|
G | A | 1 | a0001c0010t0001g0111 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.311-6736C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116118248 | ||||||
| chr12:116118429
|
A | G | 1 | a0001c0001t0003g0026 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.311-6917T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116118429 | ||||||
| chr12:116118892
|
A | G | 1 | a0001c0001t0001g0220 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.311-7380T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116118892 | ||||||
| chr12:116118909
|
A | G | 1 | a0001c0001t0001g0141 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.311-7397T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116118909 | ||||||
| chr12:116118970
|
A | G | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.311-7458T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116118970 | ||||||
| chr12:116119285
|
G | C | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.311-7773C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119285 | ||||||
| chr12:116119373
|
C | T | 1 | a0001c0001t0001g0205 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.311-7861G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119373 | ||||||
| chr12:116119427
|
G | A | 1 | a0001c0001t0004g0230 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.311-7915C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119427 | ||||||
| chr12:116119436
|
C | T | 7 | a0001c0001t0001g0179a0001c0001t0001g0222a0001c0001t0001g0223others(4): Show | 7 | HG00438.hp1 HG00673.hp2 NA18964.hp1 others(4): Show |
intron_variant | MODIFIER | c.311-7924G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119436 | ||||||
| chr12:116119510
|
C | T | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.311-7998G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119510 | ||||||
| chr12:116119539
|
G | A | 1 | a0001c0001t0004g0207 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.311-8027C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119539 | ||||||
| chr12:116119685
|
G | A | 1 | a0001c0020t0001g0114 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.311-8173C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119685 | ||||||
| chr12:116119809
|
T | TA | 6 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(3): Show | 6 | HG00642.hp2 HG01175.hp1 NA18955.hp2 others(3): Show |
intron_variant | MODIFIER | c.311-8298dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119809 | ||||||
| chr12:116119809
|
T | TAA | 6 | a0001c0001t0001g0071a0001c0001t0001g0170a0001c0001t0001g0215others(3): Show | 6 | HG00438.hp2 HG00597.hp1 HG00673.hp1 others(3): Show |
intron_variant | MODIFIER | c.311-8299_311-8298d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119809 | ||||||
| chr12:116119809
|
TA | T | 19 | a0001c0001t0001g0129a0001c0001t0001g0137a0001c0001t0001g0155others(16): Show | 19 | HG00558.hp1 HG00733.hp2 HG01358.hp2 others(16): Show |
intron_variant | MODIFIER | c.311-8298delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119809 | ||||||
| chr12:116119809
|
TAA | T | 14 | a0001c0001t0001g0044a0001c0001t0001g0141a0001c0001t0001g0160others(11): Show | 14 | HG00140.hp1 HG00639.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.311-8299_311-8298d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119809 | ||||||
| chr12:116119809
|
TAAAAAAA others(4): Show |
T | 43 | a0001c0002t0002g0038a0001c0002t0002g0046a0001c0002t0002g0047others(40): Show | 43 | HG00323.hp2 HG00621.hp2 HG00639.hp2 others(40): Show |
intron_variant | MODIFIER | c.311-8308_311-8298d others(13): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119809 | ||||||
| chr12:116119809
|
TAAAAAAA others(5): Show |
T | 3 | a0001c0002t0002g0039a0001c0002t0002g0053a0001c0002t0006g0008 | 3 | HG01081.hp1 HG02451.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.311-8309_311-8298d others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119809 | ||||||
| chr12:116119811
|
A | T | 2 | a0001c0002t0002g0056a0001c0002t0002g0057 | 2 | HG00558.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.311-8299T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119811 | ||||||
| chr12:116119815
|
A | T | 1 | a0001c0002t0002g0077 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.311-8303T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119815 | ||||||
| chr12:116119817
|
A | T | 2 | a0001c0002t0002g0178a0001c0013t0001g0225 | 2 | HG00423.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.311-8305T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119817 | ||||||
| chr12:116119818
|
A | T | 4 | a0001c0002t0002g0051a0001c0002t0002g0054a0001c0002t0002g0061others(1): Show | 4 | HG00140.hp2 HG01981.hp1 HG02293.hp1 others(1): Show |
intron_variant | MODIFIER | c.311-8306T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119818 | ||||||
| chr12:116119819
|
A | T | 2 | a0001c0002t0002g0175a0001c0002t0002g0197 | 2 | HG03492.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.311-8307T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119819 | ||||||
| chr12:116119821
|
A | T | 43 | a0001c0002t0002g0038a0001c0002t0002g0046a0001c0002t0002g0047others(40): Show | 43 | HG00323.hp2 HG00621.hp2 HG00639.hp2 others(40): Show |
intron_variant | MODIFIER | c.311-8309T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119821 | ||||||
| chr12:116119822
|
A | T | 3 | a0001c0002t0002g0039a0001c0002t0002g0053a0001c0002t0006g0008 | 3 | HG01081.hp1 HG02451.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.311-8310T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119822 | ||||||
| chr12:116119824
|
A | T | 2 | a0001c0002t0002g0056a0001c0002t0002g0057 | 2 | HG00558.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.311-8312T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119824 | ||||||
| chr12:116119826
|
A | T | 2 | a0001c0002t0002g0056a0001c0002t0002g0057 | 2 | HG00558.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.311-8314T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119826 | ||||||
| chr12:116119828
|
A | T | 2 | a0001c0002t0002g0056a0001c0002t0002g0057 | 2 | HG00558.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.311-8316T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119828 | ||||||
| chr12:116119830
|
A | T | 3 | a0001c0002t0002g0056a0001c0002t0002g0057a0001c0002t0002g0077 | 3 | HG00558.hp1 NA18986.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.311-8318T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119830 | ||||||
| chr12:116119832
|
A | AAT | 7 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0163others(4): Show | 7 | HG02071.hp2 HG02280.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.311-8321_311-8320i others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119832 | ||||||
| chr12:116119832
|
A | AT | 4 | a0001c0001t0001g0139a0001c0001t0001g0142a0001c0001t0001g0224others(1): Show | 4 | HG00438.hp1 HG02083.hp2 NA18948.hp1 others(1): Show |
intron_variant | MODIFIER | c.311-8321_311-8320i others(3): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119832 | ||||||
| chr12:116119832
|
A | ATAT | 3 | a0001c0001t0001g0117a0001c0001t0003g0021a0001c0005t0001g0157 | 3 | HG02074.hp2 HG02809.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.311-8321_311-8320i others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119832 | ||||||
| chr12:116119832
|
A | T | 5 | a0001c0001t0001g0113a0001c0002t0002g0056a0001c0002t0002g0057others(2): Show | 5 | HG00423.hp2 HG00558.hp1 NA18986.hp1 others(2): Show |
intron_variant | MODIFIER | c.311-8320T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119832 | ||||||
| chr12:116119834
|
A | AATATATA others(5): Show |
1 | a0001c0001t0001g0205 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.311-8323_311-8322i others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119834 | ||||||
| chr12:116119834
|
A | AT | 6 | a0001c0001t0001g0045a0001c0001t0001g0136a0001c0001t0001g0145others(3): Show | 6 | HG00642.hp1 HG02257.hp1 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.311-8323_311-8322i others(3): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119834 | ||||||
| chr12:116119834
|
A | T | 48 | a0001c0001t0001g0034a0001c0001t0001g0043a0001c0001t0001g0113others(45): Show | 48 | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(45): Show |
intron_variant | MODIFIER | c.311-8322T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119834 | ||||||
| chr12:116119836
|
A | AT | 11 | a0001c0001t0001g0082a0001c0001t0001g0146a0001c0001t0001g0190others(8): Show | 11 | HG01071.hp2 HG01346.hp1 HG01943.hp2 others(8): Show |
intron_variant | MODIFIER | c.311-8325_311-8324i others(3): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119836 | ||||||
| chr12:116119836
|
A | ATAT | 6 | a0001c0001t0001g0191a0001c0001t0001g0243a0001c0004t0001g0067others(3): Show | 6 | HG00735.hp2 HG01255.hp1 HG01261.hp2 others(3): Show |
intron_variant | MODIFIER | c.311-8325_311-8324i others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119836 | ||||||
| chr12:116119836
|
A | ATATATAT | 4 | a0001c0001t0001g0112a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG01123.hp1 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.311-8325_311-8324i others(9): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119836 | ||||||
| chr12:116119836
|
A | T | 107 | a0001c0001t0001g0034a0001c0001t0001g0043a0001c0001t0001g0044others(104): Show | 107 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(104): Show |
intron_variant | MODIFIER | c.311-8324T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119836 | ||||||
| chr12:116119838
|
A | AAAATATA others(3): Show |
1 | a0005c0018t0001g0217 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.311-8327_311-8326i others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119838 | ||||||
| chr12:116119838
|
A | AAT | 7 | a0001c0001t0001g0100a0001c0001t0001g0161a0001c0001t0001g0192others(4): Show | 7 | HG00280.hp2 HG01168.hp1 HG01433.hp2 others(4): Show |
intron_variant | MODIFIER | c.311-8328_311-8327d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119838 | ||||||
| chr12:116119838
|
A | AATATATA others(3): Show |
1 | a0001c0001t0013g0135 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.311-8336_311-8327d others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119838 | ||||||
| chr12:116119838
|
A | AT | 8 | a0001c0001t0001g0064a0001c0001t0001g0193a0001c0001t0001g0194others(5): Show | 8 | HG00544.hp1 HG00558.hp2 HG02071.hp1 others(5): Show |
intron_variant | MODIFIER | c.311-8327_311-8326i others(3): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119838 | ||||||
| chr12:116119838
|
A | ATAT | 3 | a0001c0001t0001g0087a0001c0001t0001g0236a0001c0001t0003g0018 | 3 | HG03239.hp1 HG03704.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.311-8327_311-8326i others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119838 | ||||||
| chr12:116119838
|
A | ATATATAT others(14): Show |
1 | a0001c0001t0003g0003 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.311-8327_311-8326i others(23): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119838 | ||||||
| chr12:116119838
|
A | T | 167 | a0001c0001t0001g0034a0001c0001t0001g0043a0001c0001t0001g0044others(164): Show | 167 | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(164): Show |
intron_variant | MODIFIER | c.311-8326T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119838 | ||||||
| chr12:116119838
|
AAT | A | 5 | a0001c0001t0001g0101a0001c0001t0001g0158a0001c0001t0001g0159others(2): Show | 5 | HG01074.hp2 HG02109.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.311-8328_311-8327d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119838 | ||||||
| chr12:116119838
|
AATATATA others(3): Show |
A | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.311-8336_311-8327d others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119838 | ||||||
| chr12:116119840
|
T | A | 8 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(5): Show | 8 | HG00741.hp2 HG02083.hp1 HG02165.hp1 others(5): Show |
intron_variant | MODIFIER | c.311-8328A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119840 | ||||||
| chr12:116119842
|
T | A | 6 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(3): Show | 6 | HG00741.hp2 HG02165.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.311-8330A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119842 | ||||||
| chr12:116119844
|
T | A | 1 | a0001c0001t0001g0101 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.311-8332A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119844 | ||||||
| chr12:116119904
|
T | G | 1 | a0001c0016t0001g0167 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.311-8392A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119904 | ||||||
| chr12:116119937
|
C | G | 1 | a0001c0001t0004g0232 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.311-8425G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116119937 | ||||||
| chr12:116120439
|
TTTCTCTC others(4): Show |
T | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.311-8938_311-8928d others(13): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120439 | ||||||
| chr12:116120440
|
T | TTC | 6 | a0001c0001t0001g0136a0001c0001t0001g0179a0001c0001t0001g0205others(3): Show | 6 | HG02071.hp2 HG02074.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.311-8930_311-8929d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120440 | ||||||
| chr12:116120440
|
TTC | T | 27 | a0001c0001t0001g0071a0001c0001t0001g0130a0001c0001t0001g0145others(24): Show | 27 | HG00323.hp1 HG00408.hp2 HG00558.hp2 others(24): Show |
intron_variant | MODIFIER | c.311-8930_311-8929d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120440 | ||||||
| chr12:116120440
|
TTCTC | T | 14 | a0001c0001t0001g0052a0001c0001t0001g0070a0001c0001t0001g0139others(11): Show | 14 | HG00408.hp1 HG01358.hp1 HG01516.hp1 others(11): Show |
intron_variant | MODIFIER | c.311-8932_311-8929d others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120440 | ||||||
| chr12:116120440
|
TTCTCTC | T | 5 | a0001c0001t0003g0003a0001c0001t0005g0184a0001c0003t0001g0250others(2): Show | 5 | HG01255.hp2 HG02486.hp1 HG02698.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-8934_311-8929d others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120440 | ||||||
| chr12:116120440
|
TTCTCTCT others(1): Show |
T | 19 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0162others(16): Show | 19 | HG00639.hp2 HG01071.hp1 HG02293.hp1 others(16): Show |
intron_variant | MODIFIER | c.311-8936_311-8929d others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120440 | ||||||
| chr12:116120440
|
TTCTCTCT others(3): Show |
T | 11 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(8): Show | 11 | HG00544.hp2 HG00597.hp2 NA18946.hp1 others(8): Show |
intron_variant | MODIFIER | c.311-8938_311-8929d others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120440 | ||||||
| chr12:116120440
|
TTCTCTCT others(5): Show |
T | 1 | a0001c0008t0003g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.311-8940_311-8929d others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120440 | ||||||
| chr12:116120440
|
TTCTCTCT others(11): Show |
T | 1 | a0001c0001t0001g0160 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.311-8946_311-8929d others(20): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120440 | ||||||
| chr12:116120453
|
TCTCTCTC others(19): Show |
T | 1 | a0001c0002t0002g0075 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.311-8967_311-8942d others(28): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120453 | ||||||
| chr12:116120463
|
TCTCTCTC others(11): Show |
T | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.311-8969_311-8952d others(20): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120463 | ||||||
| chr12:116120467
|
T | TCACACAC others(5): Show |
1 | a0001c0001t0001g0243 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.311-8956_311-8955i others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120467 | ||||||
| chr12:116120467
|
TCTCTCTC others(5): Show |
T | 7 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(4): Show | 7 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.311-8967_311-8956d others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120467 | ||||||
| chr12:116120469
|
T | A | 1 | a0001c0001t0001g0243 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.311-8957A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120469 | ||||||
| chr12:116120469
|
T | TCACA | 4 | a0001c0001t0001g0082a0001c0001t0001g0203a0001c0001t0001g0212others(1): Show | 4 | NA18949.hp2 NA19074.hp2 NA19079.hp1 others(1): Show |
intron_variant | MODIFIER | c.311-8958_311-8957i others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120469 | ||||||
| chr12:116120469
|
TCTCTCTC others(3): Show |
T | 18 | a0001c0001t0001g0112a0001c0001t0014g0106a0001c0002t0002g0038others(15): Show | 18 | HG00323.hp2 HG00423.hp2 HG01081.hp1 others(15): Show |
intron_variant | MODIFIER | c.311-8967_311-8958d others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120469 | ||||||
| chr12:116120469
|
TCTCTCTC others(5): Show |
T | 4 | a0001c0001t0001g0190a0001c0002t0002g0046a0001c0014t0002g0079others(1): Show | 4 | HG00621.hp2 NA18951.hp1 NA19002.hp2 others(1): Show |
intron_variant | MODIFIER | c.311-8969_311-8958d others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120469 | ||||||
| chr12:116120469
|
TCTCTCTC others(23): Show |
T | 2 | a0001c0002t0002g0056a0001c0002t0002g0057 | 2 | HG00558.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.311-8987_311-8958d others(32): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120469 | ||||||
| chr12:116120471
|
T | A | 6 | a0001c0001t0001g0082a0001c0001t0001g0191a0001c0001t0001g0203others(3): Show | 6 | HG01255.hp1 HG01943.hp1 NA18949.hp2 others(3): Show |
intron_variant | MODIFIER | c.311-8959A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120471 | ||||||
| chr12:116120471
|
T | TCA | 3 | a0001c0001t0001g0129a0001c0001t0001g0149a0001c0001t0003g0011 | 3 | HG02145.hp1 NA18952.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.311-8960_311-8959i others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120471 | ||||||
| chr12:116120471
|
TCTCTCTC others(1): Show |
T | 6 | a0001c0002t0002g0050a0001c0002t0009g0031a0001c0003t0001g0164others(3): Show | 6 | HG02145.hp2 HG02486.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.311-8967_311-8960d others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120471 | ||||||
| chr12:116120471
|
TCTCTCTC others(3): Show |
T | 9 | a0001c0002t0002g0047a0001c0002t0002g0058a0001c0002t0002g0065others(6): Show | 9 | HG01515.hp1 HG01517.hp1 HG02698.hp1 others(6): Show |
intron_variant | MODIFIER | c.311-8969_311-8960d others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120471 | ||||||
| chr12:116120471
|
TCTCTCTC others(5): Show |
T | 1 | a0001c0002t0002g0072 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.311-8971_311-8960d others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120471 | ||||||
| chr12:116120471
|
TCTCTCTC others(19): Show |
T | 1 | a0001c0002t0011g0124 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.311-8985_311-8960d others(28): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120471 | ||||||
| chr12:116120473
|
T | A | 26 | a0001c0001t0001g0041a0001c0001t0001g0064a0001c0001t0001g0069others(23): Show | 26 | HG00438.hp2 HG00621.hp1 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.311-8961A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120473 | ||||||
| chr12:116120473
|
T | TCA | 8 | a0001c0001t0001g0044a0001c0001t0001g0146a0001c0001t0001g0147others(5): Show | 8 | HG01515.hp2 NA18939.hp1 NA18962.hp1 others(5): Show |
intron_variant | MODIFIER | c.311-8962_311-8961i others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120473 | ||||||
| chr12:116120473
|
T | TCACA | 5 | a0001c0001t0001g0113a0001c0001t0001g0173a0001c0001t0007g0001others(2): Show | 5 | HG01516.hp2 HG01517.hp2 HG03927.hp1 others(2): Show |
intron_variant | MODIFIER | c.311-8962_311-8961i others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120473 | ||||||
| chr12:116120475
|
T | A | 78 | a0001c0001t0001g0041a0001c0001t0001g0044a0001c0001t0001g0045others(75): Show | 78 | HG00323.hp1 HG00438.hp2 HG00558.hp2 others(75): Show |
intron_variant | MODIFIER | c.311-8963A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120475 | ||||||
| chr12:116120475
|
T | TCA | 5 | a0001c0001t0001g0043a0001c0001t0001g0158a0001c0001t0001g0159others(2): Show | 5 | HG00423.hp1 HG01074.hp2 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.311-8964_311-8963i others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120475 | ||||||
| chr12:116120475
|
TCTCA | T | 4 | a0001c0001t0001g0226a0001c0005t0001g0095a0001c0005t0001g0096others(1): Show | 4 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.311-8967_311-8964d others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120475 | ||||||
| chr12:116120477
|
T | A | 107 | a0001c0001t0001g0032a0001c0001t0001g0041a0001c0001t0001g0043others(104): Show | 107 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(104): Show |
intron_variant | MODIFIER | c.311-8965A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120477 | ||||||
| chr12:116120477
|
T | TCA | 11 | a0001c0001t0004g0068a0001c0001t0004g0120a0001c0001t0004g0186others(8): Show | 11 | HG00140.hp1 HG00280.hp1 HG00639.hp1 others(8): Show |
intron_variant | MODIFIER | c.311-8967_311-8966d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120477 | ||||||
| chr12:116120477
|
T | TCTCA | 3 | a0001c0001t0001g0168a0001c0001t0004g0209a0001c0001t0017g0254 | 3 | HG02809.hp2 HG03669.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.311-8966_311-8965i others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120477 | ||||||
| chr12:116120477
|
TCA | T | 6 | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0001g0100others(3): Show | 6 | HG01168.hp1 HG01358.hp2 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.311-8967_311-8966d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120477 | ||||||
| chr12:116120477
|
TCACA | T | 6 | a0001c0001t0001g0089a0001c0001t0001g0093a0001c0001t0001g0121others(3): Show | 6 | HG00280.hp2 HG00741.hp2 HG01261.hp1 others(3): Show |
intron_variant | MODIFIER | c.311-8969_311-8966d others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120477 | ||||||
| chr12:116120479
|
A | T | 12 | a0001c0001t0001g0092a0001c0001t0001g0102a0001c0001t0001g0179others(9): Show | 12 | HG00544.hp1 HG00673.hp2 HG00733.hp1 others(9): Show |
intron_variant | MODIFIER | c.311-8967T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120479 | ||||||
| chr12:116120481
|
A | T | 6 | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0001g0092others(3): Show | 6 | HG01168.hp1 HG02165.hp1 HG03239.hp2 others(3): Show |
intron_variant | MODIFIER | c.311-8969T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120481 | ||||||
| chr12:116120483
|
A | T | 5 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0092others(2): Show | 5 | HG01261.hp1 HG02083.hp1 HG02165.hp1 others(2): Show |
intron_variant | MODIFIER | c.311-8971T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120483 | ||||||
| chr12:116120936
|
A | C | 8 | a0001c0001t0001g0243a0001c0004t0001g0067a0001c0004t0001g0181others(5): Show | 8 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(5): Show |
intron_variant | MODIFIER | c.311-9424T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116120936 | ||||||
| chr12:116121031
|
T | C | 1 | a0001c0003t0001g0185 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.311-9519A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116121031 | ||||||
| chr12:116121085
|
A | C | 1 | a0001c0001t0007g0002 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.311-9573T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116121085 | ||||||
| chr12:116121111
|
T | A | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(54): Show |
intron_variant | MODIFIER | c.311-9599A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116121111 | ||||||
| chr12:116121208
|
A | C | 1 | a0001c0001t0004g0120 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.311-9696T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116121208 | ||||||
| chr12:116121303
|
C | T | 1 | a0001c0001t0001g0226 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.311-9791G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116121303 | ||||||
| chr12:116121762
|
C | T | 1 | a0001c0001t0004g0232 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.311-10250G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116121762 | ||||||
| chr12:116121858
|
G | A | 1 | a0001c0004t0001g0188 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.311-10346C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116121858 | ||||||
| chr12:116122117
|
T | C | 58 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.311-10605A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116122117 | ||||||
| chr12:116122289
|
A | G | 1 | a0001c0001t0001g0129 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.311-10777T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116122289 | ||||||
| chr12:116122522
|
A | T | 56 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(53): Show | 56 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(53): Show |
intron_variant | MODIFIER | c.311-11010T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116122522 | ||||||
| chr12:116122977
|
G | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-11465C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116122977 | ||||||
| chr12:116123432
|
T | C | 2 | a0001c0001t0001g0071a0001c0001t0001g0235 | 2 | HG00597.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.311-11920A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116123432 | ||||||
| chr12:116123875
|
C | T | 2 | a0001c0001t0001g0165a0001c0008t0003g0019 | 2 | HG01175.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.311-12363G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116123875 | ||||||
| chr12:116124004
|
A | C | 2 | a0001c0004t0001g0181a0001c0004t0001g0182 | 2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.311-12492T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124004 | ||||||
| chr12:116124119
|
A | G | 1 | a0001c0002t0002g0073 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.311-12607T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124119 | ||||||
| chr12:116124123
|
C | CA | 4 | a0001c0001t0001g0101a0001c0001t0001g0112a0001c0001t0001g0121others(1): Show | 4 | HG01123.hp1 HG02486.hp1 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.311-12612_311-1261 others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124123 | ||||||
| chr12:116124123
|
C | CAGA | 4 | a0001c0001t0001g0102a0001c0001t0001g0133a0001c0001t0001g0134others(1): Show | 4 | HG00733.hp1 HG02109.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.311-12612_311-1261 others(7): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124123 | ||||||
| chr12:116124123
|
C | CGA | 55 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0069others(52): Show | 55 | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.311-12613_311-1261 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124123 | ||||||
| chr12:116124123
|
C | CGAGA | 13 | a0001c0001t0001g0064a0001c0001t0001g0089a0001c0001t0001g0090others(10): Show | 13 | HG00280.hp2 HG00741.hp2 HG01358.hp1 others(10): Show |
intron_variant | MODIFIER | c.311-12615_311-1261 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124123 | ||||||
| chr12:116124123
|
C | CGAGAGAG others(9): Show |
1 | a0001c0008t0003g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.311-12627_311-1261 others(20): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124123 | ||||||
| chr12:116124123
|
CGAGAG | C | 13 | a0001c0001t0001g0032a0001c0001t0001g0103a0001c0001t0001g0104others(10): Show | 13 | HG00544.hp2 HG00597.hp2 HG03710.hp1 others(10): Show |
intron_variant | MODIFIER | c.311-12616_311-1261 others(9): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124123 | ||||||
| chr12:116124123
|
CGAGAGAG others(3): Show |
C | 30 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0113others(27): Show | 30 | HG00408.hp2 HG01071.hp2 HG01346.hp1 others(27): Show |
intron_variant | MODIFIER | c.311-12621_311-1261 others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124123 | ||||||
| chr12:116124138
|
GAGAGAGA others(13): Show |
G | 6 | a0001c0001t0001g0043a0001c0001t0001g0146a0001c0001t0001g0147others(3): Show | 6 | HG00423.hp1 HG03927.hp1 NA18939.hp1 others(3): Show |
intron_variant | MODIFIER | c.311-12646_311-1262 others(24): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124138 | ||||||
| chr12:116124146
|
G | C | 2 | a0001c0001t0001g0121a0001c0003t0001g0127 | 2 | HG02559.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.311-12634C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124146 | ||||||
| chr12:116124148
|
G | GAGAGACA others(5): Show |
3 | a0001c0016t0001g0167a0001c0017t0001g0249a0005c0018t0001g0217 | 3 | HG01123.hp2 NA18948.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.311-12637_311-1263 others(16): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(11): Show |
1 | a0001c0005t0001g0157 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.311-12637_311-1263 others(22): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(13): Show |
3 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097 | 3 | HG02717.hp2 HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.311-12637_311-1263 others(24): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(15): Show |
1 | a0001c0005t0001g0098 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.311-12637_311-1263 others(26): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(45): Show |
2 | a0001c0002t0002g0038a0001c0002t0002g0081 | 2 | NA19079.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.311-12637_311-1263 others(56): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(17): Show |
1 | a0001c0002t0002g0178 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.311-12637_311-1263 others(28): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(33): Show |
1 | a0001c0002t0011g0124 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.311-12637_311-1263 others(44): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(47): Show |
3 | a0001c0002t0002g0046a0001c0002t0002g0047a0001c0002t0002g0199 | 3 | HG03704.hp2 NA19005.hp2 NA19058.hp2 |
intron_variant | MODIFIER | c.311-12637_311-1263 others(58): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(49): Show |
2 | a0001c0002t0002g0055a0008c0011t0002g0132 | 2 | NA19043.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.311-12637_311-1263 others(60): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(41): Show |
1 | a0001c0002t0002g0073 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.311-12637_311-1263 others(52): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(51): Show |
3 | a0001c0002t0002g0078a0001c0002t0002g0119a0001c0002t0002g0180 | 3 | HG01168.hp2 HG01346.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.311-12637_311-1263 others(62): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(59): Show |
1 | a0001c0002t0002g0050 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.311-12637_311-1263 others(70): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(43): Show |
1 | a0001c0006t0002g0037 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.311-12637_311-1263 others(54): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(53): Show |
2 | a0001c0002t0002g0237a0001c0002t0009g0031 | 2 | HG03831.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.311-12637_311-1263 others(64): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(51): Show |
1 | a0001c0002t0002g0051 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.311-12637_311-1263 others(62): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(61): Show |
2 | a0001c0002t0002g0059a0001c0002t0002g0080 | 2 | NA18950.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.311-12637_311-1263 others(72): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(55): Show |
1 | a0001c0002t0002g0084 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.311-12637_311-1263 others(66): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(53): Show |
1 | a0001c0002t0002g0198 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.311-12637_311-1263 others(64): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(63): Show |
3 | a0001c0002t0002g0048a0001c0002t0002g0063a0001c0002t0002g0176 | 3 | NA18964.hp2 NA19009.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.311-12637_311-1263 others(74): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(47): Show |
1 | a0001c0006t0002g0036 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.311-12637_311-1263 others(58): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(57): Show |
2 | a0001c0002t0002g0054a0001c0002t0002g0086 | 2 | HG01981.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.311-12637_311-1263 others(68): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(65): Show |
1 | a0001c0002t0002g0177 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.311-12637_311-1263 others(76): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(49): Show |
2 | a0001c0002t0002g0074a0001c0002t0002g0197 | 2 | HG01516.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.311-12637_311-1263 others(60): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(59): Show |
1 | a0001c0002t0009g0030 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.311-12637_311-1263 others(70): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(67): Show |
2 | a0001c0002t0002g0039a0001c0002t0002g0116 | 2 | NA18957.hp2 NA19087.hp1 |
intron_variant | MODIFIER | c.311-12637_311-1263 others(78): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(51): Show |
1 | a0001c0013t0001g0225 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.311-12637_311-1263 others(62): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(61): Show |
5 | a0001c0002t0002g0049a0001c0002t0002g0061a0001c0002t0002g0066others(2): Show | 5 | HG01517.hp1 HG02293.hp1 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.311-12637_311-1263 others(72): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(45): Show |
1 | a0001c0002t0002g0057 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.311-12637_311-1263 others(56): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(69): Show |
1 | a0001c0002t0002g0060 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.311-12637_311-1263 others(80): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(43): Show |
1 | a0001c0002t0002g0053 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.311-12637_311-1263 others(54): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(53): Show |
1 | a0001c0002t0002g0058 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.311-12637_311-1263 others(64): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(63): Show |
2 | a0001c0002t0002g0065a0001c0002t0002g0085 | 2 | HG00741.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.311-12637_311-1263 others(74): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(83): Show |
1 | a0002c0007t0002g0088 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.311-12637_311-1263 others(94): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(47): Show |
1 | a0001c0002t0002g0056 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.311-12637_311-1263 others(58): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(55): Show |
3 | a0001c0002t0002g0062a0001c0002t0002g0175a0001c0010t0001g0111 | 3 | HG03492.hp1 HG03516.hp1 NA18939.hp2 |
intron_variant | MODIFIER | c.311-12637_311-1263 others(66): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(59): Show |
1 | a0001c0002t0002g0075 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.311-12637_311-1263 others(70): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(69): Show |
1 | a0001c0002t0002g0077 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.311-12637_311-1263 others(80): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(57): Show |
1 | a0001c0002t0006g0008 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.311-12637_311-1263 others(68): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(59): Show |
1 | a0001c0002t0002g0083 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.311-12637_311-1263 others(70): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(69): Show |
1 | a0001c0002t0002g0076 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.311-12637_311-1263 others(80): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(63): Show |
1 | a0001c0014t0002g0079 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.311-12637_311-1263 others(74): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(63): Show |
1 | a0001c0002t0006g0010 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.311-12637_311-1263 others(74): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124148
|
G | GAGAGAGA others(73): Show |
1 | a0001c0002t0002g0072 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.311-12637_311-1263 others(84): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124148 | ||||||
| chr12:116124152
|
C | G | 67 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(64): Show | 67 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(64): Show |
intron_variant | MODIFIER | c.311-12640G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124152 | ||||||
| chr12:116124152
|
CAGAGACA others(3): Show |
C | 2 | a0001c0001t0001g0229a0001c0003t0016g0253 | 2 | HG02486.hp2 HG02523.hp2 |
intron_variant | MODIFIER | c.311-12650_311-1264 others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124152 | ||||||
| chr12:116124162
|
G | C | 6 | a0001c0001t0001g0043a0001c0001t0001g0146a0001c0001t0001g0147others(3): Show | 6 | HG00423.hp1 HG03927.hp1 NA18939.hp1 others(3): Show |
intron_variant | MODIFIER | c.311-12650C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124162 | ||||||
| chr12:116124538
|
T | C | 1 | a0001c0001t0003g0009 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.311-13026A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116124538 | ||||||
| chr12:116125289
|
G | A | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.311-13777C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116125289 | ||||||
| chr12:116125416
|
T | C | 1 | a0001c0001t0004g0209 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.311-13904A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116125416 | ||||||
| chr12:116125642
|
G | A | 34 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(31): Show | 34 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(31): Show |
intron_variant | MODIFIER | c.311-14130C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116125642 | ||||||
| chr12:116125739
|
T | C | 86 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(83): Show | 86 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(83): Show |
intron_variant | MODIFIER | c.311-14227A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116125739 | ||||||
| chr12:116125893
|
TTC | T | 12 | a0001c0001t0001g0162a0001c0001t0001g0243a0001c0003t0012g0110others(9): Show | 12 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(9): Show |
intron_variant | MODIFIER | c.311-14383_311-1438 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116125893 | ||||||
| chr12:116125950
|
A | C | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.311-14438T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116125950 | ||||||
| chr12:116126853
|
G | A | 1 | a0001c0005t0001g0097 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.311-15341C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116126853 | ||||||
| chr12:116127245
|
T | C | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.311-15733A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116127245 | ||||||
| chr12:116127280
|
T | C | 1 | a0001c0001t0004g0201 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.311-15768A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116127280 | ||||||
| chr12:116127312
|
C | T | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.311-15800G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116127312 | ||||||
| chr12:116127369
|
C | T | 1 | a0001c0001t0001g0044 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.311-15857G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116127369 | ||||||
| chr12:116127423
|
A | G | 4 | a0001c0001t0001g0142a0001c0001t0001g0154a0001c0001t0003g0004others(1): Show | 4 | HG02074.hp2 HG02083.hp2 NA18966.hp2 others(1): Show |
intron_variant | MODIFIER | c.311-15911T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116127423 | ||||||
| chr12:116127493
|
T | C | 2 | a0001c0001t0001g0041a0001c0001t0001g0129 | 2 | NA18981.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.311-15981A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116127493 | ||||||
| chr12:116127531
|
A | G | 1 | a0001c0001t0017g0254 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.311-16019T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116127531 | ||||||
| chr12:116127818
|
C | T | 1 | a0003c0009t0001g0200 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.311-16306G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116127818 | ||||||
| chr12:116127971
|
T | C | 1 | a0007c0015t0001g0033 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.311-16459A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116127971 | ||||||
| chr12:116128088
|
T | C | 22 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(19): Show | 22 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.311-16576A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116128088 | ||||||
| chr12:116128445
|
G | GA | 61 | a0001c0001t0001g0064a0001c0002t0002g0038a0001c0002t0002g0039others(58): Show | 61 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(58): Show |
intron_variant | MODIFIER | c.311-16934dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116128445 | ||||||
| chr12:116128831
|
G | A | 1 | a0001c0010t0001g0111 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.311-17319C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116128831 | ||||||
| chr12:116128844
|
T | C | 3 | a0001c0003t0001g0126a0001c0003t0001g0127a0001c0003t0001g0250 | 3 | HG03130.hp2 HG03453.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.311-17332A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116128844 | ||||||
| chr12:116129001
|
G | A | 17 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(14): Show | 17 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(14): Show |
intron_variant | MODIFIER | c.311-17489C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116129001 | ||||||
| chr12:116129087
|
T | C | 2 | a0001c0004t0001g0233a0001c0004t0001g0242 | 2 | HG00323.hp1 HG00735.hp2 |
intron_variant | MODIFIER | c.311-17575A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116129087 | ||||||
| chr12:116129141
|
T | A | 2 | a0001c0004t0001g0233a0001c0004t0001g0242 | 2 | HG00323.hp1 HG00735.hp2 |
intron_variant | MODIFIER | c.311-17629A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116129141 | ||||||
| chr12:116129473
|
C | A | 1 | a0001c0001t0001g0139 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.311-17961G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116129473 | ||||||
| chr12:116129487
|
G | A | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.311-17975C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116129487 | ||||||
| chr12:116129507
|
A | G | 1 | a0001c0001t0001g0091 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.311-17995T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116129507 | ||||||
| chr12:116129755
|
A | G | 8 | a0001c0001t0001g0243a0001c0004t0001g0067a0001c0004t0001g0181others(5): Show | 8 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(5): Show |
intron_variant | MODIFIER | c.311-18243T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116129755 | ||||||
| chr12:116129828
|
G | T | 1 | a0001c0001t0005g0184 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.311-18316C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116129828 | ||||||
| chr12:116129908
|
C | CA | 58 | a0001c0001t0001g0035a0001c0001t0001g0248a0001c0002t0002g0038others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(55): Show |
intron_variant | MODIFIER | c.311-18397dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116129908 | ||||||
| chr12:116129919
|
A | G | 11 | a0001c0001t0001g0179a0001c0001t0001g0220a0001c0001t0001g0221others(8): Show | 11 | HG00438.hp1 HG00544.hp1 HG00673.hp2 others(8): Show |
intron_variant | MODIFIER | c.311-18407T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116129919 | ||||||
| chr12:116130474
|
C | T | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.311-18962G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116130474 | ||||||
| chr12:116130618
|
T | C | 248 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(245): Show | 248 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(245): Show |
intron_variant | MODIFIER | c.311-19106A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116130618 | ||||||
| chr12:116130691
|
TG | T | 31 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0113others(28): Show | 31 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(28): Show |
intron_variant | MODIFIER | c.311-19180delC | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116130691 | ||||||
| chr12:116130803
|
T | C | 1 | a0001c0001t0001g0143 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.311-19291A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116130803 | ||||||
| chr12:116130852
|
TA | T | 193 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0041others(190): Show | 193 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(190): Show |
intron_variant | MODIFIER | c.311-19341delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116130852 | ||||||
| chr12:116130852
|
TAA | T | 18 | a0001c0001t0001g0032a0001c0001t0001g0100a0001c0001t0001g0101others(15): Show | 18 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(15): Show |
intron_variant | MODIFIER | c.311-19342_311-1934 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116130852 | ||||||
| chr12:116130854
|
A | T | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.311-19342T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116130854 | ||||||
| chr12:116131048
|
T | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-19536A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116131048 | ||||||
| chr12:116131481
|
A | T | 1 | a0007c0015t0001g0033 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.311-19969T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116131481 | ||||||
| chr12:116131574
|
T | C | 85 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(82): Show | 85 | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(82): Show |
intron_variant | MODIFIER | c.311-20062A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116131574 | ||||||
| chr12:116132097
|
T | C | 1 | a0001c0001t0001g0045 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.311-20585A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116132097 | ||||||
| chr12:116132121
|
T | C | 4 | a0001c0001t0001g0070a0001c0001t0001g0192a0001c0001t0003g0009others(1): Show | 4 | HG00408.hp1 HG01433.hp2 HG01978.hp1 others(1): Show |
intron_variant | MODIFIER | c.311-20609A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116132121 | ||||||
| chr12:116132279
|
C | CA | 17 | a0001c0001t0001g0041a0001c0001t0001g0071a0001c0001t0001g0091others(14): Show | 17 | HG00438.hp1 HG00597.hp1 HG00621.hp1 others(14): Show |
intron_variant | MODIFIER | c.311-20768dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116132279 | ||||||
| chr12:116132279
|
CA | C | 84 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(81): Show | 84 | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(81): Show |
intron_variant | MODIFIER | c.311-20768delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116132279 | ||||||
| chr12:116132443
|
A | G | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.311-20931T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116132443 | ||||||
| chr12:116132579
|
C | T | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.311-21067G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116132579 | ||||||
| chr12:116133063
|
T | C | 2 | a0001c0001t0001g0064a0001c0001t0001g0169 | 2 | HG02523.hp1 NA18974.hp2 |
intron_variant | MODIFIER | c.311-21551A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116133063 | ||||||
| chr12:116133116
|
T | C | 54 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(51): Show | 54 | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(51): Show |
intron_variant | MODIFIER | c.311-21604A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116133116 | ||||||
| chr12:116133400
|
A | G | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.311-21888T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116133400 | ||||||
| chr12:116133490
|
G | A | 1 | a0001c0001t0001g0229 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.311-21978C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116133490 | ||||||
| chr12:116133666
|
G | C | 1 | a0001c0001t0001g0168 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.311-22154C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116133666 | ||||||
| chr12:116133845
|
G | A | 5 | a0001c0002t0002g0049a0001c0002t0002g0055a0001c0002t0002g0084others(2): Show | 5 | HG00323.hp2 NA19060.hp1 NA19064.hp1 others(2): Show |
intron_variant | MODIFIER | c.311-22333C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116133845 | ||||||
| chr12:116133853
|
G | T | 1 | a0001c0001t0001g0150 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.311-22341C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116133853 | ||||||
| chr12:116134003
|
A | G | 1 | a0001c0001t0007g0001 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.311-22491T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116134003 | ||||||
| chr12:116134083
|
T | C | 1 | a0001c0001t0001g0228 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.311-22571A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116134083 | ||||||
| chr12:116134110
|
G | T | 1 | a0001c0001t0010g0029 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.311-22598C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116134110 | ||||||
| chr12:116134137
|
T | C | 1 | a0001c0001t0003g0004 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.311-22625A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116134137 | ||||||
| chr12:116134242
|
A | G | 3 | a0001c0001t0004g0068a0001c0001t0004g0210a0009c0023t0004g0206 | 3 | HG00280.hp1 HG00735.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.311-22730T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116134242 | ||||||
| chr12:116134270
|
T | C | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.311-22758A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116134270 | ||||||
| chr12:116134351
|
A | G | 1 | a0001c0001t0005g0138 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.311-22839T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116134351 | ||||||
| chr12:116134354
|
G | A | 1 | a0001c0001t0001g0169 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.311-22842C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116134354 | ||||||
| chr12:116134450
|
G | A | 1 | a0001c0001t0001g0245 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.311-22938C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116134450 | ||||||
| chr12:116134497
|
T | C | 3 | a0001c0003t0001g0126a0001c0003t0001g0127a0001c0003t0001g0250 | 3 | HG03130.hp2 HG03453.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.311-22985A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116134497 | ||||||
| chr12:116134559
|
A | T | 7 | a0001c0001t0004g0186a0001c0001t0004g0201a0001c0001t0004g0202others(4): Show | 7 | HG00639.hp1 HG01978.hp2 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.311-23047T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116134559 | ||||||
| chr12:116134675
|
A | C | 1 | a0001c0002t0002g0197 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.311-23163T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116134675 | ||||||
| chr12:116134909
|
C | A | 1 | a0001c0014t0002g0079 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.311-23397G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116134909 | ||||||
| chr12:116134951
|
C | T | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-23439G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116134951 | ||||||
| chr12:116135061
|
A | C | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.311-23549T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116135061 | ||||||
| chr12:116135104
|
G | C | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.311-23592C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116135104 | ||||||
| chr12:116135164
|
G | A | 3 | a0001c0002t0002g0051a0001c0002t0002g0178a0001c0002t0011g0124 | 3 | HG00140.hp2 HG03209.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.311-23652C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116135164 | ||||||
| chr12:116135230
|
A | C | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.311-23718T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116135230 | ||||||
| chr12:116135691
|
A | G | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.311-24179T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116135691 | ||||||
| chr12:116136235
|
A | G | 1 | a0001c0001t0003g0014 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.311-24723T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116136235 | ||||||
| chr12:116136959
|
T | C | 1 | a0001c0002t0006g0008 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.311-25447A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116136959 | ||||||
| chr12:116136970
|
C | A | 1 | a0001c0001t0001g0090 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.311-25458G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116136970 | ||||||
| chr12:116137333
|
C | T | 2 | a0001c0001t0001g0228a0001c0001t0003g0011 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.311-25821G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116137333 | ||||||
| chr12:116137518
|
C | G | 253 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(250): Show | 253 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(250): Show |
intron_variant | MODIFIER | c.311-26006G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116137518 | ||||||
| chr12:116137782
|
C | T | 1 | a0001c0002t0002g0085 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.311-26270G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116137782 | ||||||
| chr12:116137810
|
C | T | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.311-26298G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116137810 | ||||||
| chr12:116137852
|
A | AT | 23 | a0001c0001t0001g0035a0001c0001t0001g0100a0001c0001t0001g0104others(20): Show | 23 | HG00544.hp2 HG01168.hp1 HG02145.hp1 others(20): Show |
intron_variant | MODIFIER | c.311-26341dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116137852 | ||||||
| chr12:116137852
|
A | ATT | 32 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0103others(29): Show | 32 | HG00323.hp1 HG00597.hp2 HG00642.hp2 others(29): Show |
intron_variant | MODIFIER | c.311-26342_311-2634 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116137852 | ||||||
| chr12:116137852
|
AT | A | 62 | a0001c0001t0001g0052a0001c0001t0001g0064a0001c0001t0001g0069others(59): Show | 62 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(59): Show |
intron_variant | MODIFIER | c.311-26341delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116137852 | ||||||
| chr12:116138127
|
A | C | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.311-26615T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116138127 | ||||||
| chr12:116138151
|
C | T | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-26639G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116138151 | ||||||
| chr12:116138163
|
A | G | 1 | a0001c0001t0001g0205 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.311-26651T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116138163 | ||||||
| chr12:116138297
|
T | G | 2 | a0001c0001t0001g0228a0001c0001t0003g0011 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.311-26785A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116138297 | ||||||
| chr12:116139411
|
A | C | 1 | a0001c0002t0002g0061 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.311-27899T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116139411 | ||||||
| chr12:116139588
|
T | C | 1 | a0001c0001t0003g0007 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.311-28076A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116139588 | ||||||
| chr12:116139719
|
G | A | 2 | a0001c0002t0002g0054a0001c0002t0002g0061 | 2 | HG01981.hp1 HG02293.hp1 |
intron_variant | MODIFIER | c.311-28207C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116139719 | ||||||
| chr12:116139841
|
A | G | 11 | a0001c0001t0001g0243a0001c0001t0008g0005a0001c0004t0001g0067others(8): Show | 11 | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(8): Show |
intron_variant | MODIFIER | c.311-28329T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116139841 | ||||||
| chr12:116139902
|
G | A | 1 | a0001c0002t0002g0078 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.311-28390C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116139902 | ||||||
| chr12:116139914
|
G | A | 1 | a0001c0001t0001g0234 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.311-28402C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116139914 | ||||||
| chr12:116139970
|
C | CA | 67 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(64): Show | 67 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(64): Show |
intron_variant | MODIFIER | c.311-28459dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116139970 | ||||||
| chr12:116139970
|
C | CAA | 7 | a0001c0001t0001g0122a0001c0002t0002g0051a0001c0002t0002g0177others(4): Show | 7 | HG00621.hp2 HG03209.hp1 HG03516.hp1 others(4): Show |
intron_variant | MODIFIER | c.311-28460_311-2845 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116139970 | ||||||
| chr12:116139970
|
CA | C | 7 | a0001c0001t0001g0153a0001c0001t0001g0162a0001c0001t0001g0169others(4): Show | 7 | HG00597.hp2 HG02523.hp1 HG03017.hp2 others(4): Show |
intron_variant | MODIFIER | c.311-28459delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116139970 | ||||||
| chr12:116140103
|
T | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-28591A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116140103 | ||||||
| chr12:116140150
|
C | A | 2 | a0001c0001t0001g0227a0001c0001t0001g0247 | 2 | HG00280.hp2 HG00741.hp2 |
intron_variant | MODIFIER | c.311-28638G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116140150 | ||||||
| chr12:116140237
|
G | A | 54 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(51): Show | 54 | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(51): Show |
intron_variant | MODIFIER | c.311-28725C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116140237 | ||||||
| chr12:116140243
|
A | G | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.311-28731T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116140243 | ||||||
| chr12:116140245
|
T | C | 59 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.311-28733A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116140245 | ||||||
| chr12:116140289
|
G | A | 2 | a0001c0001t0001g0160a0006c0019t0001g0099 | 2 | NA18992.hp2 NA19087.hp2 |
intron_variant | MODIFIER | c.311-28777C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116140289 | ||||||
| chr12:116140377
|
T | C | 2 | a0001c0001t0004g0202a0001c0001t0004g0239 | 2 | HG00639.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.311-28865A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116140377 | ||||||
| chr12:116140399
|
T | C | 1 | a0001c0001t0001g0147 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.311-28887A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116140399 | ||||||
| chr12:116140495
|
C | T | 54 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(51): Show | 54 | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(51): Show |
intron_variant | MODIFIER | c.311-28983G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116140495 | ||||||
| chr12:116140632
|
C | T | 1 | a0007c0015t0001g0033 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.311-29120G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116140632 | ||||||
| chr12:116140709
|
A | G | 1 | a0001c0001t0001g0251 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.311-29197T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116140709 | ||||||
| chr12:116140734
|
A | C | 1 | a0001c0001t0001g0133 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.311-29222T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116140734 | ||||||
| chr12:116140823
|
G | C | 1 | a0001c0001t0001g0214 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.311-29311C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116140823 | ||||||
| chr12:116141112
|
T | C | 5 | a0001c0002t0002g0054a0001c0002t0002g0058a0001c0002t0002g0061others(2): Show | 5 | HG01981.hp1 HG02293.hp1 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.311-29600A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116141112 | ||||||
| chr12:116141331
|
T | C | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.311-29819A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116141331 | ||||||
| chr12:116141370
|
C | G | 5 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(2): Show | 5 | HG02083.hp1 HG02165.hp1 NA18955.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-29858G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116141370 | ||||||
| chr12:116141484
|
T | C | 60 | a0001c0001t0001g0160a0001c0001t0003g0018a0001c0002t0002g0038others(57): Show | 60 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(57): Show |
intron_variant | MODIFIER | c.311-29972A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116141484 | ||||||
| chr12:116141499
|
T | C | 65 | a0001c0001t0001g0160a0001c0002t0002g0038a0001c0002t0002g0039others(62): Show | 65 | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(62): Show |
intron_variant | MODIFIER | c.311-29987A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116141499 | ||||||
| chr12:116141633
|
C | G | 11 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0105others(8): Show | 11 | HG00733.hp1 HG01123.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.311-30121G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116141633 | ||||||
| chr12:116141711
|
C | T | 5 | a0001c0001t0001g0121a0001c0001t0001g0133a0001c0001t0001g0134others(2): Show | 5 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-30199G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116141711 | ||||||
| chr12:116141714
|
G | A | 1 | a0001c0003t0001g0127 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.311-30202C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116141714 | ||||||
| chr12:116141715
|
G | C | 5 | a0001c0001t0001g0121a0001c0001t0001g0133a0001c0001t0001g0134others(2): Show | 5 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-30203C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116141715 | ||||||
| chr12:116141931
|
G | A | 56 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0089others(53): Show | 56 | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(53): Show |
intron_variant | MODIFIER | c.311-30419C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116141931 | ||||||
| chr12:116142279
|
C | T | 1 | a0001c0002t0002g0060 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.311-30767G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116142279 | ||||||
| chr12:116142386
|
C | G | 57 | a0001c0001t0001g0034a0001c0001t0001g0041a0001c0001t0001g0052others(54): Show | 57 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(54): Show |
intron_variant | MODIFIER | c.311-30874G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116142386 | ||||||
| chr12:116142485
|
C | A | 1 | a0001c0001t0001g0190 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.311-30973G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116142485 | ||||||
| chr12:116142486
|
G | A | 11 | a0001c0001t0001g0243a0001c0001t0008g0005a0001c0004t0001g0067others(8): Show | 11 | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(8): Show |
intron_variant | MODIFIER | c.311-30974C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116142486 | ||||||
| chr12:116142540
|
T | C | 1 | a0001c0001t0001g0034 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.311-31028A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116142540 | ||||||
| chr12:116142617
|
G | C | 53 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(50): Show | 53 | HG00323.hp2 HG00558.hp1 HG00621.hp2 others(50): Show |
intron_variant | MODIFIER | c.311-31105C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116142617 | ||||||
| chr12:116142860
|
C | T | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.311-31348G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116142860 | ||||||
| chr12:116142864
|
T | A | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-31352A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116142864 | ||||||
| chr12:116142887
|
G | A | 1 | a0001c0001t0001g0166 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.311-31375C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116142887 | ||||||
| chr12:116142988
|
A | G | 1 | a0001c0001t0001g0193 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.311-31476T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116142988 | ||||||
| chr12:116143063
|
G | A | 8 | a0001c0001t0005g0184a0001c0003t0001g0126a0001c0003t0001g0127others(5): Show | 8 | HG02145.hp2 HG02486.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.311-31551C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116143063 | ||||||
| chr12:116143330
|
C | CA | 6 | a0001c0001t0001g0102a0001c0001t0001g0213a0001c0001t0001g0221others(3): Show | 6 | HG00733.hp1 HG02071.hp1 HG02074.hp1 others(3): Show |
intron_variant | MODIFIER | c.311-31819dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116143330 | ||||||
| chr12:116143330
|
CA | C | 5 | a0001c0001t0001g0169a0001c0001t0001g0192a0001c0001t0001g0204others(2): Show | 5 | HG00558.hp2 HG02523.hp1 NA18612.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-31819delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116143330 | ||||||
| chr12:116143472
|
T | C | 2 | a0001c0001t0001g0041a0001c0001t0001g0129 | 2 | NA18981.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.311-31960A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116143472 | ||||||
| chr12:116143769
|
A | G | 1 | a0001c0001t0001g0128 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.311-32257T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116143769 | ||||||
| chr12:116143991
|
T | C | 58 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.311-32479A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116143991 | ||||||
| chr12:116144325
|
T | G | 1 | a0001c0002t0002g0053 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.311-32813A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116144325 | ||||||
| chr12:116144326
|
T | A | 1 | a0001c0002t0002g0053 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.311-32814A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116144326 | ||||||
| chr12:116144528
|
A | G | 1 | a0001c0001t0001g0229 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.311-33016T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116144528 | ||||||
| chr12:116144673
|
C | G | 1 | a0001c0001t0003g0017 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.311-33161G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116144673 | ||||||
| chr12:116144974
|
C | A | 1 | a0001c0002t0002g0074 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.311-33462G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116144974 | ||||||
| chr12:116145271
|
C | T | 235 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(232): Show | 235 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(232): Show |
intron_variant | MODIFIER | c.311-33759G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145271 | ||||||
| chr12:116145469
|
A | G | 1 | a0001c0001t0004g0202 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.311-33957T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145469 | ||||||
| chr12:116145659
|
C | CTATT | 43 | a0001c0001t0003g0023a0001c0001t0004g0068a0001c0001t0004g0120others(40): Show | 43 | HG00323.hp2 HG00621.hp2 HG00639.hp1 others(40): Show |
intron_variant | MODIFIER | c.311-34151_311-3414 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145659 | ||||||
| chr12:116145659
|
C | CTATTTAT others(5): Show |
1 | a0001c0002t0002g0083 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.311-34159_311-3414 others(16): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145659 | ||||||
| chr12:116145659
|
CTATTTAT others(5): Show |
C | 1 | a0001c0002t0009g0031 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.311-34159_311-3414 others(16): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145659 | ||||||
| chr12:116145659
|
CTATTTAT others(9): Show |
C | 1 | a0001c0002t0011g0124 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.311-34163_311-3414 others(20): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145659 | ||||||
| chr12:116145685
|
A | G | 1 | a0001c0020t0001g0114 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.311-34173T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145685 | ||||||
| chr12:116145689
|
A | ATTTG | 5 | a0001c0001t0001g0243a0001c0004t0001g0067a0001c0004t0001g0188others(2): Show | 5 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(2): Show |
intron_variant | MODIFIER | c.311-34178_311-3417 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145689 | ||||||
| chr12:116145689
|
A | G | 36 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(33): Show | 36 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.311-34177T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145689 | ||||||
| chr12:116145693
|
A | ATTTG | 6 | a0001c0003t0012g0110a0001c0004t0001g0181a0001c0004t0001g0182others(3): Show | 6 | HG01358.hp1 HG01516.hp2 HG01517.hp2 others(3): Show |
intron_variant | MODIFIER | c.311-34182_311-3418 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145693 | ||||||
| chr12:116145693
|
A | G | 41 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(38): Show | 41 | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(38): Show |
intron_variant | MODIFIER | c.311-34181T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145693 | ||||||
| chr12:116145697
|
A | ATTTATTT others(9): Show |
1 | a0001c0001t0003g0026 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.311-34186_311-3418 others(20): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145697 | ||||||
| chr12:116145697
|
A | ATTTATTT others(5): Show |
14 | a0001c0001t0001g0070a0001c0001t0001g0194a0001c0001t0001g0213others(11): Show | 14 | HG00408.hp1 HG01123.hp2 HG01433.hp2 others(11): Show |
intron_variant | MODIFIER | c.311-34186_311-3418 others(16): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145697 | ||||||
| chr12:116145697
|
A | ATTTATTT others(1): Show |
78 | a0001c0001t0001g0052a0001c0001t0001g0064a0001c0001t0001g0069others(75): Show | 78 | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(75): Show |
intron_variant | MODIFIER | c.311-34186_311-3418 others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145697 | ||||||
| chr12:116145697
|
A | ATTTATTT others(5): Show |
1 | a0001c0001t0001g0143 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.311-34186_311-3418 others(16): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145697 | ||||||
| chr12:116145697
|
A | ATTTG | 25 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0041others(22): Show | 25 | HG00597.hp2 HG00642.hp2 HG00673.hp2 others(22): Show |
intron_variant | MODIFIER | c.311-34186_311-3418 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145697 | ||||||
| chr12:116145697
|
A | ATTTGTTT others(1): Show |
3 | a0001c0001t0001g0162a0001c0003t0001g0126a0001c0003t0001g0127 | 3 | HG03130.hp2 HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.311-34186_311-3418 others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145697 | ||||||
| chr12:116145697
|
A | G | 53 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(50): Show | 53 | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(50): Show |
intron_variant | MODIFIER | c.311-34185T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145697 | ||||||
| chr12:116145955
|
T | G | 22 | a0001c0001t0001g0087a0001c0001t0001g0158a0001c0001t0001g0159others(19): Show | 22 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(19): Show |
intron_variant | MODIFIER | c.311-34443A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116145955 | ||||||
| chr12:116146069
|
C | G | 1 | a0001c0017t0001g0249 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.311-34557G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116146069 | ||||||
| chr12:116146225
|
C | T | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.311-34713G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116146225 | ||||||
| chr12:116146441
|
CT | C | 11 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(8): Show | 11 | HG00280.hp2 HG00741.hp2 HG01168.hp1 others(8): Show |
intron_variant | MODIFIER | c.311-34930delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116146441 | ||||||
| chr12:116146521
|
A | G | 1 | a0001c0002t0002g0038 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.311-35009T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116146521 | ||||||
| chr12:116147536
|
C | A | 1 | a0001c0002t0002g0053 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.311-36024G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116147536 | ||||||
| chr12:116147592
|
G | T | 1 | a0001c0002t0002g0062 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.311-36080C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116147592 | ||||||
| chr12:116148051
|
C | CA | 22 | a0001c0001t0001g0064a0001c0001t0001g0069a0001c0001t0001g0089others(19): Show | 22 | HG00280.hp2 HG00544.hp1 HG00673.hp1 others(19): Show |
intron_variant | MODIFIER | c.311-36540dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAA | 5 | a0001c0001t0001g0045a0001c0001t0001g0133a0001c0001t0001g0134others(2): Show | 5 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-36543_311-3654 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAA | 14 | a0001c0001t0001g0243a0001c0001t0008g0005a0001c0002t0002g0059others(11): Show | 14 | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(11): Show |
intron_variant | MODIFIER | c.311-36545_311-3654 others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA | 50 | a0001c0001t0001g0044a0001c0001t0001g0153a0001c0001t0001g0162others(47): Show | 50 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(47): Show |
intron_variant | MODIFIER | c.311-36546_311-3654 others(11): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(2): Show |
6 | a0001c0001t0001g0174a0001c0001t0005g0042a0001c0001t0005g0144others(3): Show | 6 | HG00741.hp1 HG01071.hp2 HG01346.hp1 others(3): Show |
intron_variant | MODIFIER | c.311-36548_311-3654 others(13): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(3): Show |
1 | a0001c0002t0002g0178 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.311-36549_311-3654 others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(4): Show |
2 | a0001c0005t0001g0097a0001c0005t0001g0157 | 2 | HG02922.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.311-36550_311-3654 others(15): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(5): Show |
5 | a0001c0001t0001g0125a0001c0001t0001g0155a0001c0001t0007g0001others(2): Show | 5 | HG00408.hp2 HG02015.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-36551_311-3654 others(16): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(6): Show |
3 | a0001c0001t0001g0146a0001c0001t0001g0173a0001c0005t0001g0096 | 3 | HG03195.hp2 NA18955.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.311-36552_311-3654 others(17): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(7): Show |
1 | a0001c0001t0001g0113 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.311-36553_311-3654 others(18): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(8): Show |
1 | a0001c0005t0001g0098 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.311-36554_311-3654 others(19): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(10): Show |
1 | a0001c0001t0001g0251 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.311-36556_311-3654 others(21): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(12): Show |
2 | a0001c0001t0001g0141a0001c0001t0001g0150 | 2 | HG01515.hp2 NA18612.hp1 |
intron_variant | MODIFIER | c.311-36558_311-3654 others(23): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(13): Show |
1 | a0001c0001t0001g0043 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.311-36559_311-3654 others(24): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(15): Show |
2 | a0001c0001t0001g0137a0001c0001t0007g0002 | 2 | HG02738.hp1 NA18986.hp2 |
intron_variant | MODIFIER | c.311-36561_311-3654 others(26): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(17): Show |
1 | a0001c0001t0005g0138 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.311-36540_311-3653 others(28): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(21): Show |
1 | a0001c0001t0001g0139 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.311-36540_311-3653 others(32): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(22): Show |
1 | a0001c0012t0001g0148 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.311-36540_311-3653 others(33): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(23): Show |
1 | a0001c0001t0003g0014 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.311-36540_311-3653 others(34): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(26): Show |
1 | a0001c0001t0001g0123 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.311-36540_311-3653 others(37): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(27): Show |
2 | a0001c0001t0003g0004a0001c0001t0005g0151 | 2 | HG01943.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.311-36540_311-3653 others(38): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(30): Show |
1 | a0001c0001t0001g0149 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.311-36540_311-3653 others(41): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
C | CAAAAAAA others(33): Show |
2 | a0001c0001t0001g0147a0001c0020t0001g0114 | 2 | NA19009.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.311-36540_311-3653 others(44): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148051
|
CA | C | 7 | a0001c0001t0001g0105a0001c0001t0001g0129a0001c0001t0001g0142others(4): Show | 7 | HG02074.hp2 HG02083.hp2 NA18951.hp1 others(4): Show |
intron_variant | MODIFIER | c.311-36540delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148051 | ||||||
| chr12:116148076
|
A | G | 2 | a0001c0001t0001g0045a0001c0001t0001g0145 | 2 | HG02280.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.311-36564T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148076 | ||||||
| chr12:116148084
|
G | A | 1 | a0001c0001t0017g0254 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.311-36572C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148084 | ||||||
| chr12:116148087
|
AGTGGAGG others(9): Show |
A | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.311-36591_311-3657 others(20): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148087 | ||||||
| chr12:116148126
|
T | A | 5 | a0001c0001t0005g0184a0001c0003t0001g0164a0001c0003t0001g0185others(2): Show | 5 | HG02145.hp2 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.311-36614A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148126 | ||||||
| chr12:116148521
|
T | C | 1 | a0001c0002t0002g0081 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.311-37009A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148521 | ||||||
| chr12:116148609
|
C | A | 1 | a0001c0001t0004g0120 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.311-37097G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148609 | ||||||
| chr12:116148609
|
C | CTA | 15 | a0001c0001t0001g0044a0001c0001t0001g0147a0001c0001t0001g0150others(12): Show | 15 | HG01071.hp2 HG01175.hp2 HG01515.hp2 others(12): Show |
intron_variant | MODIFIER | c.311-37099_311-3709 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148609 | ||||||
| chr12:116148609
|
C | CTATA | 4 | a0001c0001t0005g0184a0001c0003t0001g0164a0001c0003t0001g0185others(1): Show | 4 | HG02486.hp2 HG02895.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.311-37101_311-3709 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148609 | ||||||
| chr12:116148609
|
C | CTATATAT others(3): Show |
1 | a0001c0003t0003g0024 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.311-37107_311-3709 others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148609 | ||||||
| chr12:116148609
|
CTA | C | 88 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(85): Show | 88 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(85): Show |
intron_variant | MODIFIER | c.311-37099_311-3709 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148609 | ||||||
| chr12:116148609
|
CTATA | C | 73 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(70): Show | 73 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(70): Show |
intron_variant | MODIFIER | c.311-37101_311-3709 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148609 | ||||||
| chr12:116148609
|
CTATATA | C | 6 | a0001c0002t0002g0051a0001c0002t0002g0156a0001c0002t0002g0178others(3): Show | 6 | HG00140.hp2 HG03209.hp1 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.311-37103_311-3709 others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148609 | ||||||
| chr12:116148615
|
A | C | 1 | a0001c0001t0001g0166 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.311-37103T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148615 | ||||||
| chr12:116148817
|
T | C | 1 | a0001c0002t0002g0075 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.311-37305A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148817 | ||||||
| chr12:116148895
|
T | A | 1 | a0001c0001t0001g0150 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.311-37383A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116148895 | ||||||
| chr12:116149067
|
C | T | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.311-37555G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116149067 | ||||||
| chr12:116149548
|
T | G | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.311-38036A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116149548 | ||||||
| chr12:116149549
|
T | A | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.311-38037A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116149549 | ||||||
| chr12:116149675
|
A | G | 1 | a0001c0016t0001g0167 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.311-38163T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116149675 | ||||||
| chr12:116149746
|
AAC | A | 11 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(8): Show | 11 | HG00280.hp2 HG00741.hp2 HG01168.hp1 others(8): Show |
intron_variant | MODIFIER | c.311-38236_311-3823 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116149746 | ||||||
| chr12:116149791
|
A | G | 1 | a0001c0001t0001g0143 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.311-38279T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116149791 | ||||||
| chr12:116150548
|
T | C | 3 | a0001c0002t0002g0049a0001c0002t0002g0084a0001c0002t0009g0030 | 3 | HG00323.hp2 NA19060.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.311-39036A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116150548 | ||||||
| chr12:116150766
|
G | A | 1 | a0001c0004t0001g0233 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.311-39254C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116150766 | ||||||
| chr12:116150825
|
C | T | 10 | a0001c0001t0001g0243a0001c0004t0001g0067a0001c0004t0001g0181others(7): Show | 10 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(7): Show |
intron_variant | MODIFIER | c.311-39313G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116150825 | ||||||
| chr12:116150843
|
G | C | 2 | a0001c0006t0002g0036a0001c0006t0002g0037 | 2 | HG00639.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.311-39331C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116150843 | ||||||
| chr12:116150998
|
T | C | 22 | a0001c0001t0001g0087a0001c0001t0001g0158a0001c0001t0001g0159others(19): Show | 22 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(19): Show |
intron_variant | MODIFIER | c.311-39486A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116150998 | ||||||
| chr12:116151011
|
T | G | 1 | a0001c0002t0002g0085 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.311-39499A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116151011 | ||||||
| chr12:116151062
|
T | TA | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.311-39551dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116151062 | ||||||
| chr12:116151241
|
T | A | 1 | a0001c0001t0002g0094 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.311-39729A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116151241 | ||||||
| chr12:116151261
|
G | T | 1 | a0001c0001t0001g0090 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.311-39749C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116151261 | ||||||
| chr12:116151432
|
C | A | 1 | a0001c0002t0002g0062 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.311-39920G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116151432 | ||||||
| chr12:116151620
|
G | A | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.311-40108C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116151620 | ||||||
| chr12:116151849
|
T | G | 3 | a0001c0001t0004g0068a0001c0001t0004g0210a0009c0023t0004g0206 | 3 | HG00280.hp1 HG00735.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.311-40337A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116151849 | ||||||
| chr12:116152091
|
G | A | 1 | a0001c0002t0002g0074 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.311-40579C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116152091 | ||||||
| chr12:116152145
|
T | C | 1 | a0001c0001t0001g0100 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.311-40633A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116152145 | ||||||
| chr12:116152173
|
C | T | 1 | a0007c0015t0001g0033 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.311-40661G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116152173 | ||||||
| chr12:116152412
|
G | C | 1 | a0001c0001t0003g0007 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.311-40900C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116152412 | ||||||
| chr12:116152531
|
C | T | 3 | a0001c0001t0001g0172a0001c0001t0001g0191a0001c0004t0001g0244 | 3 | HG01255.hp2 HG01943.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.311-41019G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116152531 | ||||||
| chr12:116152587
|
T | C | 1 | a0001c0003t0001g0126 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.311-41075A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116152587 | ||||||
| chr12:116152909
|
A | G | 1 | a0001c0001t0001g0174 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.311-41397T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116152909 | ||||||
| chr12:116153567
|
C | G | 1 | a0001c0003t0001g0127 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.311-42055G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116153567 | ||||||
| chr12:116153714
|
A | G | 1 | a0001c0001t0003g0018 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.311-42202T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116153714 | ||||||
| chr12:116153785
|
A | G | 1 | a0001c0001t0001g0216 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.311-42273T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116153785 | ||||||
| chr12:116153925
|
G | A | 1 | a0001c0001t0001g0219 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.311-42413C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116153925 | ||||||
| chr12:116153939
|
T | C | 1 | a0001c0002t0002g0177 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.311-42427A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116153939 | ||||||
| chr12:116154431
|
T | C | 5 | a0001c0001t0005g0184a0001c0003t0001g0164a0001c0003t0001g0185others(2): Show | 5 | HG02145.hp2 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.311-42919A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116154431 | ||||||
| chr12:116154773
|
A | C | 1 | a0001c0002t0002g0086 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.311-43261T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116154773 | ||||||
| chr12:116154809
|
A | T | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.311-43297T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116154809 | ||||||
| chr12:116155021
|
T | C | 1 | a0001c0002t0002g0177 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.311-43509A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116155021 | ||||||
| chr12:116155128
|
A | C | 1 | a0001c0001t0001g0165 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.311-43616T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116155128 | ||||||
| chr12:116155540
|
G | A | 23 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0101others(20): Show | 23 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(20): Show |
intron_variant | MODIFIER | c.311-44028C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116155540 | ||||||
| chr12:116155542
|
C | T | 85 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0101others(82): Show | 85 | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(82): Show |
intron_variant | MODIFIER | c.311-44030G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116155542 | ||||||
| chr12:116155644
|
A | G | 1 | a0001c0002t0002g0062 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.311-44132T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116155644 | ||||||
| chr12:116155923
|
T | C | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.311-44411A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116155923 | ||||||
| chr12:116155999
|
CAAT | C | 12 | a0001c0001t0001g0162a0001c0001t0001g0243a0001c0003t0012g0110others(9): Show | 12 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(9): Show |
intron_variant | MODIFIER | c.311-44490_311-4448 others(7): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116155999 | ||||||
| chr12:116156115
|
T | C | 1 | a0001c0002t0002g0077 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.311-44603A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116156115 | ||||||
| chr12:116156233
|
A | G | 1 | a0006c0019t0001g0099 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.311-44721T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116156233 | ||||||
| chr12:116156402
|
T | TA | 62 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0045others(59): Show | 62 | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(59): Show |
intron_variant | MODIFIER | c.311-44891dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116156402 | ||||||
| chr12:116156402
|
T | TAA | 24 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0104others(21): Show | 24 | HG00423.hp1 HG01071.hp2 HG01346.hp1 others(21): Show |
intron_variant | MODIFIER | c.311-44892_311-4489 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116156402 | ||||||
| chr12:116156402
|
TA | T | 93 | a0001c0001t0001g0034a0001c0001t0001g0041a0001c0001t0001g0052others(90): Show | 93 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(90): Show |
intron_variant | MODIFIER | c.311-44891delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116156402 | ||||||
| chr12:116156449
|
A | G | 1 | a0001c0001t0001g0104 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.311-44937T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116156449 | ||||||
| chr12:116156702
|
T | A | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.311-45190A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116156702 | ||||||
| chr12:116156796
|
A | G | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.311-45284T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116156796 | ||||||
| chr12:116156828
|
C | T | 1 | a0001c0001t0007g0002 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.311-45316G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116156828 | ||||||
| chr12:116157264
|
C | T | 1 | a0001c0001t0003g0009 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.311-45752G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116157264 | ||||||
| chr12:116157365
|
C | T | 1 | a0001c0001t0001g0245 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.311-45853G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116157365 | ||||||
| chr12:116157550
|
G | A | 2 | a0001c0002t0002g0065a0001c0002t0002g0066 | 2 | HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.311-46038C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116157550 | ||||||
| chr12:116157655
|
A | G | 85 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0101others(82): Show | 85 | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(82): Show |
intron_variant | MODIFIER | c.311-46143T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116157655 | ||||||
| chr12:116157707
|
T | C | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.311-46195A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116157707 | ||||||
| chr12:116158034
|
A | C | 1 | a0001c0001t0001g0169 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.311-46522T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116158034 | ||||||
| chr12:116158151
|
G | GA | 25 | a0001c0001t0001g0082a0001c0001t0001g0091a0001c0001t0001g0122others(22): Show | 25 | HG00544.hp2 HG01175.hp2 HG01255.hp2 others(22): Show |
intron_variant | MODIFIER | c.311-46640dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116158151 | ||||||
| chr12:116158152
|
A | G | 52 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(49): Show | 52 | HG00323.hp2 HG00558.hp1 HG00621.hp2 others(49): Show |
intron_variant | MODIFIER | c.311-46640T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116158152 | ||||||
| chr12:116158225
|
T | G | 1 | a0001c0003t0001g0250 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.311-46713A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116158225 | ||||||
| chr12:116158518
|
T | A | 1 | a0001c0001t0003g0014 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.311-47006A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116158518 | ||||||
| chr12:116158566
|
G | A | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.311-47054C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116158566 | ||||||
| chr12:116158576
|
G | C | 1 | a0001c0001t0003g0014 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.311-47064C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116158576 | ||||||
| chr12:116159448
|
C | T | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.311-47936G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116159448 | ||||||
| chr12:116159472
|
T | C | 1 | a0001c0004t0001g0188 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.311-47960A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116159472 | ||||||
| chr12:116159802
|
C | T | 1 | a0001c0001t0017g0254 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.311-48290G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116159802 | ||||||
| chr12:116160093
|
T | C | 8 | a0001c0001t0001g0082a0001c0001t0001g0190a0001c0001t0001g0203others(5): Show | 8 | NA18949.hp2 NA18951.hp1 NA18966.hp1 others(5): Show |
intron_variant | MODIFIER | c.311-48581A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116160093 | ||||||
| chr12:116160575
|
A | G | 1 | a0001c0008t0003g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.311-49063T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116160575 | ||||||
| chr12:116160585
|
T | TA | 52 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(49): Show | 52 | HG00323.hp2 HG00558.hp1 HG00621.hp2 others(49): Show |
intron_variant | MODIFIER | c.311-49074dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116160585 | ||||||
| chr12:116160757
|
A | AT | 9 | a0001c0001t0001g0032a0001c0001t0001g0087a0001c0001t0001g0145others(6): Show | 9 | HG02280.hp1 HG03130.hp2 HG03239.hp1 others(6): Show |
intron_variant | MODIFIER | c.311-49246dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116160757 | ||||||
| chr12:116160922
|
T | C | 2 | a0001c0001t0001g0101a0001c0001t0003g0003 | 2 | HG02486.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.311-49410A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116160922 | ||||||
| chr12:116161017
|
G | C | 3 | a0001c0001t0001g0032a0001c0001t0001g0103a0001c0001t0003g0015 | 3 | HG00597.hp2 NA19005.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.311-49505C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116161017 | ||||||
| chr12:116161183
|
C | T | 1 | a0001c0001t0001g0069 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.311-49671G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116161183 | ||||||
| chr12:116161559
|
A | G | 1 | a0001c0002t0002g0178 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.311-50047T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116161559 | ||||||
| chr12:116161570
|
G | T | 2 | a0001c0002t0002g0054a0001c0002t0002g0061 | 2 | HG01981.hp1 HG02293.hp1 |
intron_variant | MODIFIER | c.311-50058C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116161570 | ||||||
| chr12:116161871
|
A | C | 58 | a0001c0001t0001g0229a0001c0002t0002g0038a0001c0002t0002g0039others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.311-50359T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116161871 | ||||||
| chr12:116161888
|
T | C | 20 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0103others(17): Show | 20 | HG00544.hp2 HG00597.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.311-50376A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116161888 | ||||||
| chr12:116161910
|
A | T | 59 | a0001c0001t0001g0169a0001c0001t0001g0251a0001c0001t0002g0094others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(56): Show |
intron_variant | MODIFIER | c.311-50398T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116161910 | ||||||
| chr12:116161953
|
G | A | 1 | a0001c0001t0007g0002 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.311-50441C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116161953 | ||||||
| chr12:116162202
|
TA | T | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.311-50691delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116162202 | ||||||
| chr12:116162342
|
C | T | 35 | a0001c0001t0001g0035a0001c0001t0001g0043a0001c0001t0001g0044others(32): Show | 35 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(32): Show |
intron_variant | MODIFIER | c.311-50830G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116162342 | ||||||
| chr12:116162388
|
C | T | 2 | a0001c0001t0001g0045a0001c0001t0001g0145 | 2 | HG02280.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.311-50876G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116162388 | ||||||
| chr12:116162866
|
T | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-51354A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116162866 | ||||||
| chr12:116163177
|
A | G | 6 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(3): Show | 6 | HG02083.hp1 HG02165.hp1 NA18955.hp2 others(3): Show |
intron_variant | MODIFIER | c.311-51665T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116163177 | ||||||
| chr12:116163253
|
T | C | 36 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(33): Show | 36 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.311-51741A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116163253 | ||||||
| chr12:116163318
|
T | C | 1 | a0001c0001t0001g0205 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.311-51806A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116163318 | ||||||
| chr12:116163352
|
T | C | 1 | a0001c0010t0001g0111 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.311-51840A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116163352 | ||||||
| chr12:116163362
|
AT | A | 148 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0044others(145): Show | 148 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(145): Show |
intron_variant | MODIFIER | c.311-51851delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116163362 | ||||||
| chr12:116163362
|
ATT | A | 82 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(79): Show | 82 | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(79): Show |
intron_variant | MODIFIER | c.311-51852_311-5185 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116163362 | ||||||
| chr12:116164057
|
C | A | 131 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0043others(128): Show | 131 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(128): Show |
intron_variant | MODIFIER | c.311-52545G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116164057 | ||||||
| chr12:116164662
|
T | C | 3 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097 | 3 | HG02717.hp2 HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.311-53150A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116164662 | ||||||
| chr12:116164676
|
T | C | 3 | a0001c0003t0001g0126a0001c0003t0001g0127a0001c0003t0001g0250 | 3 | HG03130.hp2 HG03453.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.311-53164A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116164676 | ||||||
| chr12:116164743
|
T | C | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.311-53231A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116164743 | ||||||
| chr12:116164828
|
A | C | 1 | a0001c0001t0001g0163 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.311-53316T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116164828 | ||||||
| chr12:116164971
|
C | G | 1 | a0001c0004t0001g0211 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.311-53459G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116164971 | ||||||
| chr12:116165145
|
A | G | 1 | a0001c0001t0001g0247 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.311-53633T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116165145 | ||||||
| chr12:116165259
|
C | CT | 38 | a0001c0001t0001g0082a0001c0001t0001g0087a0001c0001t0001g0129others(35): Show | 38 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(35): Show |
intron_variant | MODIFIER | c.311-53748dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116165259 | ||||||
| chr12:116165259
|
C | CTT | 12 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0118others(9): Show | 12 | HG01358.hp1 HG02257.hp1 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.311-53749_311-5374 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116165259 | ||||||
| chr12:116165259
|
CT | C | 88 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0091others(85): Show | 88 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(85): Show |
intron_variant | MODIFIER | c.311-53748delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116165259 | ||||||
| chr12:116165259
|
CTT | C | 12 | a0001c0001t0001g0090a0001c0001t0001g0154a0001c0001t0001g0173others(9): Show | 12 | HG00140.hp2 HG02451.hp1 HG03209.hp1 others(9): Show |
intron_variant | MODIFIER | c.311-53749_311-5374 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116165259 | ||||||
| chr12:116165259
|
CTTTTTT | C | 5 | a0001c0001t0001g0103a0001c0001t0001g0122a0001c0001t0001g0128others(2): Show | 5 | HG00597.hp2 NA18945.hp2 NA18965.hp1 others(2): Show |
intron_variant | MODIFIER | c.311-53753_311-5374 others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116165259 | ||||||
| chr12:116165259
|
CTTTTTTT | C | 17 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0104others(14): Show | 17 | HG00544.hp2 HG00733.hp1 HG01123.hp1 others(14): Show |
intron_variant | MODIFIER | c.311-53754_311-5374 others(11): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116165259 | ||||||
| chr12:116165474
|
G | T | 1 | a0001c0001t0001g0044 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.311-53962C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116165474 | ||||||
| chr12:116165921
|
G | A | 132 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0043others(129): Show | 132 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(129): Show |
intron_variant | MODIFIER | c.311-54409C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116165921 | ||||||
| chr12:116165987
|
A | G | 1 | a0001c0003t0001g0126 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.311-54475T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116165987 | ||||||
| chr12:116166080
|
C | G | 1 | a0001c0004t0001g0188 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.311-54568G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116166080 | ||||||
| chr12:116166386
|
T | G | 3 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097 | 3 | HG02717.hp2 HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.311-54874A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116166386 | ||||||
| chr12:116166537
|
T | C | 1 | a0001c0001t0001g0032 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.311-55025A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116166537 | ||||||
| chr12:116166673
|
T | G | 1 | a0001c0002t0002g0198 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.311-55161A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116166673 | ||||||
| chr12:116167259
|
G | C | 2 | a0001c0001t0001g0100a0003c0009t0001g0200 | 2 | HG01168.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.311-55747C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116167259 | ||||||
| chr12:116167299
|
G | A | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-55787C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116167299 | ||||||
| chr12:116167626
|
G | A | 2 | a0001c0002t0002g0049a0001c0002t0009g0030 | 2 | NA19060.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.311-56114C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116167626 | ||||||
| chr12:116167669
|
G | A | 2 | a0001c0001t0001g0227a0001c0001t0001g0247 | 2 | HG00280.hp2 HG00741.hp2 |
intron_variant | MODIFIER | c.311-56157C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116167669 | ||||||
| chr12:116168101
|
C | T | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.311-56589G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116168101 | ||||||
| chr12:116168331
|
CA | C | 11 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(8): Show | 11 | HG02257.hp1 HG02559.hp1 HG02615.hp1 others(8): Show |
intron_variant | MODIFIER | c.311-56820delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116168331 | ||||||
| chr12:116168611
|
T | C | 3 | a0001c0001t0003g0023a0001c0001t0004g0183a0001c0001t0004g0187 | 3 | HG00642.hp1 HG00733.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.311-57099A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116168611 | ||||||
| chr12:116168883
|
A | C | 1 | a0001c0001t0001g0118 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.311-57371T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116168883 | ||||||
| chr12:116170042
|
T | C | 6 | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0192others(3): Show | 6 | HG00408.hp1 HG00438.hp2 HG01433.hp2 others(3): Show |
intron_variant | MODIFIER | c.311-58530A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116170042 | ||||||
| chr12:116170101
|
A | G | 2 | a0001c0004t0001g0181a0001c0004t0001g0182 | 2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.311-58589T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116170101 | ||||||
| chr12:116170525
|
C | T | 22 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(19): Show | 22 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.311-59013G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116170525 | ||||||
| chr12:116170538
|
T | C | 3 | a0001c0002t0002g0081a0001c0002t0002g0199a0001c0002t0002g0237 | 3 | NA19005.hp2 NA19012.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.311-59026A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116170538 | ||||||
| chr12:116170608
|
G | GT | 19 | a0001c0001t0001g0034a0001c0001t0001g0089a0001c0001t0001g0115others(16): Show | 19 | HG00741.hp2 HG02145.hp1 HG02257.hp1 others(16): Show |
intron_variant | MODIFIER | c.311-59097dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116170608 | ||||||
| chr12:116170608
|
GT | G | 20 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(17): Show | 20 | HG00544.hp2 HG00597.hp2 HG00639.hp2 others(17): Show |
intron_variant | MODIFIER | c.311-59097delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116170608 | ||||||
| chr12:116170682
|
C | T | 52 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(49): Show | 52 | HG00323.hp2 HG00558.hp1 HG00621.hp2 others(49): Show |
intron_variant | MODIFIER | c.311-59170G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116170682 | ||||||
| chr12:116170750
|
G | A | 2 | a0001c0002t0002g0053a0001c0002t0006g0008 | 2 | HG01081.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.311-59238C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116170750 | ||||||
| chr12:116170848
|
G | A | 4 | a0001c0002t0002g0039a0001c0002t0002g0060a0001c0002t0002g0080others(1): Show | 4 | NA18957.hp2 NA18963.hp2 NA19087.hp1 others(1): Show |
intron_variant | MODIFIER | c.311-59336C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116170848 | ||||||
| chr12:116171141
|
G | A | 1 | a0001c0001t0006g0013 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.311-59629C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116171141 | ||||||
| chr12:116171270
|
G | A | 4 | a0001c0001t0005g0184a0001c0003t0001g0164a0001c0003t0001g0185others(1): Show | 4 | HG02145.hp2 HG02895.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.311-59758C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116171270 | ||||||
| chr12:116171382
|
A | G | 1 | a0001c0005t0001g0157 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.311-59870T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116171382 | ||||||
| chr12:116171427
|
A | G | 22 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(19): Show | 22 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.311-59915T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116171427 | ||||||
| chr12:116171535
|
T | C | 1 | a0001c0002t0002g0076 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.311-60023A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116171535 | ||||||
| chr12:116171550
|
T | G | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.311-60038A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116171550 | ||||||
| chr12:116172010
|
T | C | 1 | a0008c0011t0002g0132 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.311-60498A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116172010 | ||||||
| chr12:116172142
|
A | C | 1 | a0001c0003t0001g0127 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.311-60630T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116172142 | ||||||
| chr12:116172277
|
C | T | 1 | a0001c0002t0002g0178 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.311-60765G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116172277 | ||||||
| chr12:116172927
|
C | CA | 21 | a0001c0001t0001g0032a0001c0001t0001g0082a0001c0001t0001g0208others(18): Show | 21 | HG00280.hp1 HG00544.hp1 HG00558.hp1 others(18): Show |
intron_variant | MODIFIER | c.311-61416dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116172927 | ||||||
| chr12:116172927
|
CA | C | 5 | a0001c0001t0001g0041a0001c0001t0001g0129a0001c0001t0001g0251others(2): Show | 5 | HG02630.hp1 HG03471.hp2 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-61416delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116172927 | ||||||
| chr12:116172959
|
G | A | 36 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(33): Show | 36 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.311-61447C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116172959 | ||||||
| chr12:116172966
|
A | T | 8 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(5): Show | 8 | HG00280.hp2 HG00741.hp2 HG02083.hp1 others(5): Show |
intron_variant | MODIFIER | c.311-61454T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116172966 | ||||||
| chr12:116172975
|
A | G | 1 | a0001c0002t0002g0047 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.311-61463T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116172975 | ||||||
| chr12:116173021
|
C | T | 1 | a0001c0003t0001g0127 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.311-61509G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116173021 | ||||||
| chr12:116173097
|
C | G | 58 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.311-61585G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116173097 | ||||||
| chr12:116173154
|
T | A | 1 | a0001c0001t0001g0069 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.311-61642A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116173154 | ||||||
| chr12:116173168
|
C | T | 2 | a0001c0001t0001g0069a0001c0001t0001g0215 | 2 | HG00438.hp2 NA19012.hp1 |
intron_variant | MODIFIER | c.311-61656G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116173168 | ||||||
| chr12:116173687
|
C | T | 3 | a0001c0001t0004g0068a0001c0001t0004g0210a0009c0023t0004g0206 | 3 | HG00280.hp1 HG00735.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.311-62175G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116173687 | ||||||
| chr12:116173954
|
C | T | 10 | a0001c0001t0001g0243a0001c0004t0001g0067a0001c0004t0001g0181others(7): Show | 10 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(7): Show |
intron_variant | MODIFIER | c.311-62442G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116173954 | ||||||
| chr12:116174274
|
T | C | 58 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.311-62762A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116174274 | ||||||
| chr12:116174376
|
T | C | 1 | a0001c0002t0002g0178 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.311-62864A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116174376 | ||||||
| chr12:116174487
|
G | GT | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.311-62976dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116174487 | ||||||
| chr12:116175427
|
G | A | 2 | a0001c0001t0004g0120a0001c0001t0004g0207 | 2 | HG01081.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.310+62041C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116175427 | ||||||
| chr12:116175494
|
C | T | 10 | a0001c0001t0001g0243a0001c0004t0001g0067a0001c0004t0001g0181others(7): Show | 10 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(7): Show |
intron_variant | MODIFIER | c.310+61974G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116175494 | ||||||
| chr12:116175550
|
C | G | 1 | a0001c0002t0002g0198 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.310+61918G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116175550 | ||||||
| chr12:116175806
|
A | G | 1 | a0007c0015t0001g0033 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.310+61662T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116175806 | ||||||
| chr12:116175857
|
G | A | 1 | a0001c0001t0001g0216 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.310+61611C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116175857 | ||||||
| chr12:116175880
|
G | A | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.310+61588C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116175880 | ||||||
| chr12:116176035
|
G | A | 9 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(6): Show | 9 | HG02257.hp1 HG02559.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.310+61433C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116176035 | ||||||
| chr12:116176364
|
A | C | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.310+61104T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116176364 | ||||||
| chr12:116176876
|
C | CA | 6 | a0001c0001t0001g0136a0001c0001t0001g0221a0001c0003t0001g0164others(3): Show | 6 | HG01123.hp2 HG02074.hp1 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.310+60591dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116176876 | ||||||
| chr12:116176876
|
CA | C | 108 | a0001c0001t0001g0032a0001c0001t0001g0044a0001c0001t0001g0045others(105): Show | 108 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(105): Show |
intron_variant | MODIFIER | c.310+60591delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116176876 | ||||||
| chr12:116176876
|
CAA | C | 7 | a0001c0001t0001g0101a0001c0001t0003g0004a0001c0001t0014g0106others(4): Show | 7 | HG01081.hp1 HG02717.hp2 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.310+60590_310+6059 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116176876 | ||||||
| chr12:116176946
|
T | G | 3 | a0001c0002t0002g0056a0001c0002t0002g0057a0001c0002t0002g0077 | 3 | HG00558.hp1 NA18986.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.310+60522A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116176946 | ||||||
| chr12:116176976
|
T | C | 1 | a0001c0002t0002g0176 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.310+60492A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116176976 | ||||||
| chr12:116177070
|
A | C | 2 | a0001c0001t0001g0045a0001c0001t0001g0145 | 2 | HG02280.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.310+60398T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116177070 | ||||||
| chr12:116177110
|
C | A | 4 | a0001c0001t0005g0184a0001c0003t0001g0164a0001c0003t0001g0185others(1): Show | 4 | HG02145.hp2 HG02895.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.310+60358G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116177110 | ||||||
| chr12:116177142
|
C | T | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.310+60326G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116177142 | ||||||
| chr12:116177340
|
A | C | 10 | a0001c0001t0001g0243a0001c0004t0001g0067a0001c0004t0001g0181others(7): Show | 10 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(7): Show |
intron_variant | MODIFIER | c.310+60128T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116177340 | ||||||
| chr12:116177545
|
A | C | 1 | a0001c0002t0002g0046 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.310+59923T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116177545 | ||||||
| chr12:116177571
|
C | T | 3 | a0001c0001t0004g0068a0001c0001t0004g0210a0009c0023t0004g0206 | 3 | HG00280.hp1 HG00735.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.310+59897G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116177571 | ||||||
| chr12:116177939
|
T | A | 1 | a0001c0001t0001g0087 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.310+59529A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116177939 | ||||||
| chr12:116178031
|
C | CTTGT | 4 | a0001c0001t0001g0166a0001c0001t0003g0016a0001c0002t0002g0076others(1): Show | 4 | HG03017.hp1 NA18972.hp1 NA18972.hp2 others(1): Show |
intron_variant | MODIFIER | c.310+59433_310+5943 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116178031 | ||||||
| chr12:116178142
|
GCTGAGAT others(2): Show |
G | 34 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(31): Show | 34 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(31): Show |
intron_variant | MODIFIER | c.310+59317_310+5932 others(13): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116178142 | ||||||
| chr12:116178153
|
A | C | 34 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(31): Show | 34 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(31): Show |
intron_variant | MODIFIER | c.310+59315T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116178153 | ||||||
| chr12:116178285
|
A | G | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.310+59183T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116178285 | ||||||
| chr12:116178622
|
C | G | 1 | a0001c0001t0004g0230 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.310+58846G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116178622 | ||||||
| chr12:116178643
|
C | T | 32 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0113others(29): Show | 32 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(29): Show |
intron_variant | MODIFIER | c.310+58825G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116178643 | ||||||
| chr12:116178865
|
C | A | 1 | a0001c0001t0001g0064 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.310+58603G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116178865 | ||||||
| chr12:116179197
|
C | T | 2 | a0001c0002t0002g0075a0001c0002t0011g0124 | 2 | HG00140.hp2 HG01074.hp1 |
intron_variant | MODIFIER | c.310+58271G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116179197 | ||||||
| chr12:116179204
|
C | CGT | 10 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(7): Show | 10 | HG00280.hp2 HG00741.hp2 HG02165.hp1 others(7): Show |
intron_variant | MODIFIER | c.310+58262_310+5826 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116179204 | ||||||
| chr12:116179204
|
C | CGTGT | 7 | a0001c0001t0001g0100a0001c0001t0003g0007a0001c0001t0005g0042others(4): Show | 7 | HG01071.hp2 HG01168.hp1 HG01346.hp1 others(4): Show |
intron_variant | MODIFIER | c.310+58260_310+5826 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116179204 | ||||||
| chr12:116179204
|
CGT | C | 71 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0093others(68): Show | 71 | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(68): Show |
intron_variant | MODIFIER | c.310+58262_310+5826 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116179204 | ||||||
| chr12:116179204
|
CGTGT | C | 34 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(31): Show | 34 | HG00140.hp2 HG00544.hp2 HG00597.hp2 others(31): Show |
intron_variant | MODIFIER | c.310+58260_310+5826 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116179204 | ||||||
| chr12:116179204
|
CGTGTGTG others(3): Show |
C | 8 | a0001c0001t0001g0044a0001c0001t0001g0113a0001c0001t0001g0137others(5): Show | 8 | HG02015.hp2 NA18955.hp1 NA18962.hp1 others(5): Show |
intron_variant | MODIFIER | c.310+58254_310+5826 others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116179204 | ||||||
| chr12:116179204
|
CGTGTGTG others(5): Show |
C | 1 | a0001c0002t0002g0062 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.310+58252_310+5826 others(16): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116179204 | ||||||
| chr12:116179338
|
G | A | 1 | a0001c0001t0001g0044 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.310+58130C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116179338 | ||||||
| chr12:116179534
|
G | A | 1 | a0001c0001t0003g0006 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.310+57934C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116179534 | ||||||
| chr12:116179536
|
G | A | 1 | a0001c0003t0016g0253 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.310+57932C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116179536 | ||||||
| chr12:116179555
|
T | TGCA | 58 | a0001c0001t0001g0093a0001c0002t0002g0038a0001c0002t0002g0039others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.310+57912_310+5791 others(7): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116179555 | ||||||
| chr12:116179656
|
A | T | 36 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(33): Show | 36 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.310+57812T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116179656 | ||||||
| chr12:116179690
|
C | CT | 234 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(231): Show | 234 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(231): Show |
intron_variant | MODIFIER | c.310+57777dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116179690 | ||||||
| chr12:116179706
|
G | T | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.310+57762C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116179706 | ||||||
| chr12:116179952
|
C | A | 8 | a0001c0001t0001g0243a0001c0004t0001g0067a0001c0004t0001g0181others(5): Show | 8 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(5): Show |
intron_variant | MODIFIER | c.310+57516G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116179952 | ||||||
| chr12:116179980
|
G | A | 10 | a0001c0001t0002g0094a0001c0001t0005g0184a0001c0001t0006g0013others(7): Show | 10 | HG01261.hp1 HG02145.hp2 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.310+57488C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116179980 | ||||||
| chr12:116180082
|
A | G | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+57386T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116180082 | ||||||
| chr12:116180217
|
A | G | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.310+57251T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116180217 | ||||||
| chr12:116180931
|
CT | C | 169 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0044others(166): Show | 169 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(166): Show |
intron_variant | MODIFIER | c.310+56536delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116180931 | ||||||
| chr12:116181015
|
C | G | 2 | a0001c0001t0001g0227a0001c0001t0001g0247 | 2 | HG00280.hp2 HG00741.hp2 |
intron_variant | MODIFIER | c.310+56453G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116181015 | ||||||
| chr12:116181150
|
C | T | 3 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091 | 3 | NA18955.hp2 NA18962.hp2 NA18979.hp2 |
intron_variant | MODIFIER | c.310+56318G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116181150 | ||||||
| chr12:116181194
|
A | G | 1 | a0001c0001t0014g0106 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.310+56274T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116181194 | ||||||
| chr12:116181216
|
G | A | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.310+56252C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116181216 | ||||||
| chr12:116181293
|
TA | T | 26 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0101others(23): Show | 26 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(23): Show |
intron_variant | MODIFIER | c.310+56174delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116181293 | ||||||
| chr12:116182200
|
T | C | 36 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(33): Show | 36 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.310+55268A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116182200 | ||||||
| chr12:116182289
|
A | G | 1 | a0001c0001t0001g0174 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.310+55179T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116182289 | ||||||
| chr12:116182316
|
C | T | 1 | a0001c0003t0001g0250 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.310+55152G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116182316 | ||||||
| chr12:116182832
|
G | T | 3 | a0001c0001t0001g0087a0001c0001t0001g0236a0001c0001t0001g0245 | 3 | HG03239.hp1 HG03704.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.310+54636C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116182832 | ||||||
| chr12:116182846
|
A | G | 1 | a0001c0003t0001g0126 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.310+54622T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116182846 | ||||||
| chr12:116183012
|
G | T | 2 | a0001c0003t0001g0127a0001c0003t0001g0250 | 2 | HG03453.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.310+54456C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183012 | ||||||
| chr12:116183380
|
G | T | 166 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0043others(163): Show | 166 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(163): Show |
intron_variant | MODIFIER | c.310+54088C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183380 | ||||||
| chr12:116183720
|
A | G | 1 | a0001c0001t0001g0213 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.310+53748T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183720 | ||||||
| chr12:116183803
|
G | GGT | 33 | a0001c0001t0001g0139a0001c0001t0001g0171a0001c0001t0003g0018others(30): Show | 33 | HG00621.hp2 HG00741.hp1 HG01081.hp1 others(30): Show |
intron_variant | MODIFIER | c.310+53663_310+5366 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183803 | ||||||
| chr12:116183803
|
G | GGTGT | 16 | a0001c0001t0001g0134a0001c0001t0001g0154a0001c0001t0001g0162others(13): Show | 16 | HG00323.hp1 HG00558.hp1 HG01255.hp1 others(13): Show |
intron_variant | MODIFIER | c.310+53661_310+5366 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183803 | ||||||
| chr12:116183803
|
G | GGTGTGT | 8 | a0001c0001t0001g0142a0001c0001t0001g0150a0001c0001t0001g0196others(5): Show | 8 | HG01071.hp2 HG01074.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.310+53659_310+5366 others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183803 | ||||||
| chr12:116183803
|
G | GGTGTGTG others(1): Show |
10 | a0001c0001t0001g0044a0001c0001t0001g0125a0001c0001t0001g0137others(7): Show | 10 | HG01516.hp2 HG01517.hp2 HG03710.hp2 others(7): Show |
intron_variant | MODIFIER | c.310+53657_310+5366 others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183803 | ||||||
| chr12:116183803
|
G | GGTGTGTG others(3): Show |
9 | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0113others(6): Show | 9 | HG00408.hp2 HG00423.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.310+53655_310+5366 others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183803 | ||||||
| chr12:116183803
|
G | GGTGTGTG others(5): Show |
5 | a0001c0001t0001g0149a0001c0001t0001g0152a0001c0001t0001g0155others(2): Show | 5 | HG02015.hp2 NA18952.hp2 NA18955.hp1 others(2): Show |
intron_variant | MODIFIER | c.310+53653_310+5366 others(16): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183803 | ||||||
| chr12:116183803
|
G | GGTGTGTG others(7): Show |
2 | a0001c0001t0005g0151a0001c0005t0001g0098 | 2 | HG01943.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.310+53651_310+5366 others(18): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183803 | ||||||
| chr12:116183809
|
T | G | 2 | a0001c0006t0002g0036a0001c0006t0002g0037 | 2 | HG00639.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.310+53659A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183809 | ||||||
| chr12:116183810
|
GTGTGTGT others(3): Show |
G | 1 | a0001c0001t0003g0015 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.310+53648_310+5365 others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183810 | ||||||
| chr12:116183812
|
G | GTGTGTGT others(3): Show |
2 | a0001c0001t0001g0087a0001c0001t0001g0236 | 2 | HG03239.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.310+53655_310+5365 others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183812 | ||||||
| chr12:116183816
|
GTGTA | G | 7 | a0001c0001t0001g0105a0001c0001t0001g0107a0001c0001t0001g0121others(4): Show | 7 | HG02559.hp2 HG03195.hp2 HG03209.hp1 others(4): Show |
intron_variant | MODIFIER | c.310+53648_310+5365 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183816 | ||||||
| chr12:116183818
|
GTA | G | 24 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(21): Show | 24 | HG00323.hp2 HG00544.hp2 HG00639.hp2 others(21): Show |
intron_variant | MODIFIER | c.310+53648_310+5364 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183818 | ||||||
| chr12:116183820
|
A | ATGTG | 18 | a0001c0001t0001g0100a0001c0001t0001g0229a0001c0001t0003g0023others(15): Show | 18 | HG00280.hp1 HG00639.hp1 HG00642.hp1 others(15): Show |
intron_variant | MODIFIER | c.310+53644_310+5364 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183820 | ||||||
| chr12:116183820
|
A | ATGTGTG | 67 | a0001c0001t0001g0035a0001c0001t0001g0064a0001c0001t0001g0089others(64): Show | 67 | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(64): Show |
intron_variant | MODIFIER | c.310+53642_310+5364 others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183820 | ||||||
| chr12:116183820
|
A | ATGTGTGT others(1): Show |
28 | a0001c0001t0001g0034a0001c0001t0001g0052a0001c0001t0001g0069others(25): Show | 28 | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(25): Show |
intron_variant | MODIFIER | c.310+53640_310+5364 others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183820 | ||||||
| chr12:116183820
|
A | ATGTGTGT others(3): Show |
2 | a0001c0001t0001g0041a0001c0001t0001g0190 | 2 | NA18951.hp1 NA18981.hp1 |
intron_variant | MODIFIER | c.310+53638_310+5364 others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183820 | ||||||
| chr12:116183820
|
A | G | 101 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(98): Show | 101 | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(98): Show |
intron_variant | MODIFIER | c.310+53648T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183820 | ||||||
| chr12:116183878
|
G | A | 45 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(42): Show | 45 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(42): Show |
intron_variant | MODIFIER | c.310+53590C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116183878 | ||||||
| chr12:116184218
|
C | A | 2 | a0001c0001t0001g0228a0001c0001t0003g0011 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.310+53250G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116184218 | ||||||
| chr12:116184593
|
T | C | 1 | a0001c0001t0003g0014 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.310+52875A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116184593 | ||||||
| chr12:116184608
|
G | A | 1 | a0001c0002t0002g0175 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.310+52860C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116184608 | ||||||
| chr12:116184617
|
C | T | 234 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(231): Show | 234 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(231): Show |
intron_variant | MODIFIER | c.310+52851G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116184617 | ||||||
| chr12:116184691
|
C | A | 1 | a0001c0001t0001g0092 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.310+52777G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116184691 | ||||||
| chr12:116184694
|
T | C | 1 | a0001c0002t0002g0051 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.310+52774A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116184694 | ||||||
| chr12:116184964
|
A | C | 2 | a0001c0001t0005g0042a0001c0001t0005g0144 | 2 | HG01071.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.310+52504T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116184964 | ||||||
| chr12:116185104
|
A | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.310+52364T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185104 | ||||||
| chr12:116185197
|
T | C | 1 | a0001c0001t0001g0069 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.310+52271A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185197 | ||||||
| chr12:116185308
|
G | A | 1 | a0001c0001t0001g0122 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.310+52160C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185308 | ||||||
| chr12:116185365
|
C | T | 1 | a0001c0001t0003g0011 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.310+52103G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185365 | ||||||
| chr12:116185516
|
A | T | 1 | a0001c0013t0001g0225 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.310+51952T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185516 | ||||||
| chr12:116185652
|
G | GCTTTTCT others(8): Show |
2 | a0001c0001t0001g0101a0001c0001t0003g0003 | 2 | HG02486.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.310+51801_310+5181 others(19): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185652 | ||||||
| chr12:116185652
|
GCTTTT | G | 27 | a0001c0001t0001g0034a0001c0001t0001g0102a0001c0001t0001g0104others(24): Show | 27 | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(24): Show |
intron_variant | MODIFIER | c.310+51811_310+5181 others(9): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185652 | ||||||
| chr12:116185652
|
GCTTTTCT others(3): Show |
G | 6 | a0001c0001t0001g0234a0001c0001t0002g0094a0001c0001t0004g0232others(3): Show | 6 | HG00558.hp2 HG01168.hp2 HG01255.hp2 others(3): Show |
intron_variant | MODIFIER | c.310+51806_310+5181 others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185652 | ||||||
| chr12:116185652
|
GCTTTTCT others(8): Show |
G | 23 | a0001c0001t0001g0070a0001c0001t0001g0082a0001c0001t0001g0089others(20): Show | 23 | HG00280.hp2 HG00408.hp1 HG01168.hp1 others(20): Show |
intron_variant | MODIFIER | c.310+51801_310+5181 others(19): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185652 | ||||||
| chr12:116185652
|
GCTTTTCT others(13): Show |
G | 50 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(47): Show | 50 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(47): Show |
intron_variant | MODIFIER | c.310+51796_310+5181 others(24): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185652 | ||||||
| chr12:116185652
|
GCTTTTCT others(18): Show |
G | 72 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(69): Show | 72 | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(69): Show |
intron_variant | MODIFIER | c.310+51791_310+5181 others(29): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185652 | ||||||
| chr12:116185652
|
GCTTTTCT others(23): Show |
G | 4 | a0001c0001t0001g0035a0001c0001t0001g0163a0001c0001t0001g0208others(1): Show | 4 | HG02630.hp2 HG03130.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.310+51786_310+5181 others(34): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185652 | ||||||
| chr12:116185652
|
GCTTTTCT others(28): Show |
G | 62 | a0001c0001t0005g0184a0001c0002t0002g0038a0001c0002t0002g0039others(59): Show | 62 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(59): Show |
intron_variant | MODIFIER | c.310+51781_310+5181 others(39): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185652 | ||||||
| chr12:116185652
|
GCTTTTCT others(38): Show |
G | 1 | a0001c0002t0002g0048 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.310+51771_310+5181 others(49): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185652 | ||||||
| chr12:116185757
|
C | A | 26 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0101others(23): Show | 26 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(23): Show |
intron_variant | MODIFIER | c.310+51711G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185757 | ||||||
| chr12:116185889
|
C | A | 2 | a0001c0001t0001g0251a0001c0001t0003g0014 | 2 | HG02630.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.310+51579G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185889 | ||||||
| chr12:116185936
|
T | C | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.310+51532A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116185936 | ||||||
| chr12:116187001
|
C | T | 1 | a0001c0001t0001g0147 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.310+50467G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116187001 | ||||||
| chr12:116187157
|
T | C | 1 | a0001c0001t0001g0117 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.310+50311A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116187157 | ||||||
| chr12:116187252
|
C | T | 1 | a0001c0001t0001g0091 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.310+50216G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116187252 | ||||||
| chr12:116187267
|
T | C | 1 | a0001c0001t0001g0108 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.310+50201A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116187267 | ||||||
| chr12:116187333
|
T | C | 2 | a0001c0001t0001g0154a0001c0003t0001g0250 | 2 | HG03453.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.310+50135A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116187333 | ||||||
| chr12:116187349
|
C | T | 1 | a0001c0001t0001g0089 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.310+50119G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116187349 | ||||||
| chr12:116187402
|
A | T | 8 | a0001c0001t0005g0184a0001c0003t0001g0126a0001c0003t0001g0127others(5): Show | 8 | HG02145.hp2 HG02486.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.310+50066T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116187402 | ||||||
| chr12:116187678
|
G | A | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.310+49790C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116187678 | ||||||
| chr12:116187813
|
G | A | 16 | a0001c0001t0001g0087a0001c0001t0001g0179a0001c0001t0001g0219others(13): Show | 16 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(13): Show |
intron_variant | MODIFIER | c.310+49655C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116187813 | ||||||
| chr12:116187850
|
G | A | 138 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(135): Show | 138 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(135): Show |
intron_variant | MODIFIER | c.310+49618C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116187850 | ||||||
| chr12:116188130
|
TA | T | 38 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(35): Show | 38 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(35): Show |
intron_variant | MODIFIER | c.310+49337delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116188130 | ||||||
| chr12:116188387
|
G | GAT | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+49080_310+4908 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116188387 | ||||||
| chr12:116188606
|
T | C | 1 | a0001c0001t0001g0220 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.310+48862A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116188606 | ||||||
| chr12:116189221
|
G | C | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+48247C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116189221 | ||||||
| chr12:116189246
|
CA | C | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+48221delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116189246 | ||||||
| chr12:116189681
|
T | C | 1 | a0001c0001t0007g0001 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.310+47787A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116189681 | ||||||
| chr12:116189898
|
C | A | 1 | a0001c0005t0001g0098 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.310+47570G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116189898 | ||||||
| chr12:116190302
|
T | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.310+47166A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116190302 | ||||||
| chr12:116190359
|
A | T | 132 | a0001c0001t0001g0032a0001c0001t0001g0043a0001c0001t0001g0044others(129): Show | 132 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(129): Show |
intron_variant | MODIFIER | c.310+47109T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116190359 | ||||||
| chr12:116190374
|
T | C | 4 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(1): Show | 4 | HG02559.hp1 HG02615.hp1 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.310+47094A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116190374 | ||||||
| chr12:116190388
|
T | G | 1 | a0001c0002t0009g0031 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.310+47080A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116190388 | ||||||
| chr12:116190478
|
A | T | 1 | a0001c0002t0002g0061 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.310+46990T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116190478 | ||||||
| chr12:116190546
|
A | G | 1 | a0001c0002t0006g0022 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.310+46922T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116190546 | ||||||
| chr12:116190809
|
G | C | 2 | a0001c0002t0002g0051a0001c0002t0002g0178 | 2 | HG03209.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.310+46659C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116190809 | ||||||
| chr12:116191040
|
A | T | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+46428T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116191040 | ||||||
| chr12:116191045
|
T | C | 2 | a0001c0002t0002g0038a0001c0002t0002g0180 | 2 | HG06807.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.310+46423A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116191045 | ||||||
| chr12:116191091
|
C | CA | 11 | a0001c0001t0001g0069a0001c0001t0001g0235a0001c0001t0003g0026others(8): Show | 11 | HG00140.hp2 HG01978.hp1 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.310+46376dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116191091 | ||||||
| chr12:116191103
|
A | G | 1 | a0001c0008t0003g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.310+46365T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116191103 | ||||||
| chr12:116191154
|
GTAAT | G | 3 | a0001c0001t0003g0023a0001c0001t0004g0183a0001c0001t0004g0187 | 3 | HG00642.hp1 HG00733.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.310+46310_310+4631 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116191154 | ||||||
| chr12:116191342
|
T | C | 12 | a0001c0001t0001g0043a0001c0001t0001g0123a0001c0001t0001g0125others(9): Show | 12 | HG00408.hp2 HG00423.hp1 HG03927.hp1 others(9): Show |
intron_variant | MODIFIER | c.310+46126A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116191342 | ||||||
| chr12:116191418
|
C | A | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+46050G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116191418 | ||||||
| chr12:116191847
|
A | C | 1 | a0001c0001t0008g0005 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.310+45621T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116191847 | ||||||
| chr12:116191927
|
G | A | 1 | a0001c0001t0001g0154 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.310+45541C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116191927 | ||||||
| chr12:116192270
|
T | A | 1 | a0001c0002t0002g0198 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.310+45198A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116192270 | ||||||
| chr12:116192331
|
T | G | 60 | a0001c0001t0001g0243a0001c0002t0002g0038a0001c0002t0002g0039others(57): Show | 60 | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(57): Show |
intron_variant | MODIFIER | c.310+45137A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116192331 | ||||||
| chr12:116192490
|
A | G | 1 | a0001c0001t0001g0034 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.310+44978T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116192490 | ||||||
| chr12:116192763
|
G | A | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.310+44705C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116192763 | ||||||
| chr12:116192766
|
T | C | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.310+44702A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116192766 | ||||||
| chr12:116192883
|
A | T | 1 | a0001c0001t0003g0006 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.310+44585T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116192883 | ||||||
| chr12:116193011
|
C | A | 3 | a0001c0001t0004g0068a0001c0001t0004g0210a0009c0023t0004g0206 | 3 | HG00280.hp1 HG00735.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.310+44457G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116193011 | ||||||
| chr12:116193109
|
A | G | 1 | a0001c0001t0001g0052 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.310+44359T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116193109 | ||||||
| chr12:116193154
|
A | T | 1 | a0004c0022t0001g0189 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.310+44314T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116193154 | ||||||
| chr12:116193170
|
G | A | 2 | a0001c0001t0001g0179a0001c0001t0001g0222 | 2 | NA18964.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.310+44298C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116193170 | ||||||
| chr12:116193262
|
G | A | 1 | a0001c0002t0002g0076 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.310+44206C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116193262 | ||||||
| chr12:116193603
|
T | C | 1 | a0001c0001t0001g0229 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.310+43865A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116193603 | ||||||
| chr12:116193616
|
G | GA | 253 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(250): Show | 253 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(250): Show |
intron_variant | MODIFIER | c.310+43851dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116193616 | ||||||
| chr12:116193663
|
A | T | 1 | a0001c0003t0001g0250 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.310+43805T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116193663 | ||||||
| chr12:116193841
|
C | T | 48 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(45): Show | 48 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(45): Show |
intron_variant | MODIFIER | c.310+43627G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116193841 | ||||||
| chr12:116193963
|
T | C | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.310+43505A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116193963 | ||||||
| chr12:116194060
|
C | T | 4 | a0001c0001t0001g0064a0001c0001t0001g0169a0001c0001t0001g0170others(1): Show | 4 | HG00673.hp1 HG02523.hp1 NA18950.hp2 others(1): Show |
intron_variant | MODIFIER | c.310+43408G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116194060 | ||||||
| chr12:116194219
|
G | T | 1 | a0001c0002t0002g0076 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.310+43249C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116194219 | ||||||
| chr12:116194220
|
C | T | 1 | a0001c0002t0002g0076 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.310+43248G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116194220 | ||||||
| chr12:116194378
|
T | A | 57 | a0001c0001t0001g0034a0001c0001t0001g0041a0001c0001t0001g0052others(54): Show | 57 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(54): Show |
intron_variant | MODIFIER | c.310+43090A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116194378 | ||||||
| chr12:116194414
|
C | T | 3 | a0001c0002t0002g0049a0001c0002t0002g0084a0001c0002t0009g0030 | 3 | HG00323.hp2 NA19060.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.310+43054G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116194414 | ||||||
| chr12:116194562
|
C | T | 33 | a0001c0001t0001g0087a0001c0001t0001g0089a0001c0001t0001g0090others(30): Show | 33 | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(30): Show |
intron_variant | MODIFIER | c.310+42906G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116194562 | ||||||
| chr12:116194925
|
G | A | 1 | a0001c0003t0001g0185 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.310+42543C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116194925 | ||||||
| chr12:116195123
|
C | T | 55 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(52): Show | 55 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(52): Show |
intron_variant | MODIFIER | c.310+42345G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116195123 | ||||||
| chr12:116195627
|
T | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.310+41841A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116195627 | ||||||
| chr12:116195759
|
G | C | 2 | a0001c0001t0001g0228a0001c0001t0003g0011 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.310+41709C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116195759 | ||||||
| chr12:116195801
|
C | A | 1 | a0001c0001t0001g0107 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.310+41667G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116195801 | ||||||
| chr12:116196331
|
T | C | 12 | a0001c0001t0001g0082a0001c0001t0001g0172a0001c0001t0001g0190others(9): Show | 12 | HG01255.hp2 HG01943.hp1 HG01981.hp2 others(9): Show |
intron_variant | MODIFIER | c.310+41137A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116196331 | ||||||
| chr12:116196365
|
G | C | 57 | a0001c0001t0001g0034a0001c0001t0001g0041a0001c0001t0001g0052others(54): Show | 57 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(54): Show |
intron_variant | MODIFIER | c.310+41103C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116196365 | ||||||
| chr12:116196393
|
A | T | 2 | a0001c0001t0005g0042a0001c0001t0005g0144 | 2 | HG01071.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.310+41075T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116196393 | ||||||
| chr12:116196615
|
C | T | 1 | a0001c0002t0009g0031 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.310+40853G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116196615 | ||||||
| chr12:116196920
|
C | A | 4 | a0001c0002t0002g0039a0001c0002t0002g0060a0001c0002t0002g0080others(1): Show | 4 | NA18957.hp2 NA18963.hp2 NA19087.hp1 others(1): Show |
intron_variant | MODIFIER | c.310+40548G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116196920 | ||||||
| chr12:116197433
|
T | A | 3 | a0001c0003t0001g0126a0001c0003t0001g0127a0001c0003t0001g0250 | 3 | HG03130.hp2 HG03453.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.310+40035A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116197433 | ||||||
| chr12:116197538
|
G | A | 1 | a0001c0002t0002g0077 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.310+39930C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116197538 | ||||||
| chr12:116197782
|
G | GA | 10 | a0001c0001t0001g0103a0001c0002t0002g0038a0001c0002t0002g0054others(7): Show | 10 | HG00639.hp2 HG01071.hp1 HG01981.hp1 others(7): Show |
intron_variant | MODIFIER | c.310+39685dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116197782 | ||||||
| chr12:116198019
|
C | T | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.310+39449G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116198019 | ||||||
| chr12:116198060
|
A | G | 1 | a0001c0001t0001g0128 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.310+39408T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116198060 | ||||||
| chr12:116198103
|
C | G | 1 | a0001c0001t0004g0241 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.310+39365G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116198103 | ||||||
| chr12:116198356
|
A | T | 22 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(19): Show | 22 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.310+39112T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116198356 | ||||||
| chr12:116198453
|
G | A | 36 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(33): Show | 36 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.310+39015C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116198453 | ||||||
| chr12:116198531
|
A | G | 3 | a0001c0003t0001g0164a0001c0003t0001g0185a0001c0003t0003g0024 | 3 | HG02145.hp2 HG02895.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.310+38937T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116198531 | ||||||
| chr12:116198572
|
G | T | 1 | a0001c0001t0005g0151 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.310+38896C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116198572 | ||||||
| chr12:116198671
|
G | A | 12 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(9): Show | 12 | HG01074.hp2 HG02109.hp1 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.310+38797C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116198671 | ||||||
| chr12:116198748
|
C | CAGTTAA | 248 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(245): Show | 248 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(245): Show |
intron_variant | MODIFIER | c.310+38719_310+3872 others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116198748 | ||||||
| chr12:116198998
|
C | G | 56 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(53): Show | 56 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(53): Show |
intron_variant | MODIFIER | c.310+38470G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116198998 | ||||||
| chr12:116199087
|
T | A | 1 | a0001c0008t0003g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.310+38381A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116199087 | ||||||
| chr12:116199088
|
G | T | 1 | a0001c0008t0003g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.310+38380C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116199088 | ||||||
| chr12:116199098
|
G | A | 1 | a0001c0001t0005g0184 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.310+38370C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116199098 | ||||||
| chr12:116199110
|
T | C | 55 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(52): Show | 55 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(52): Show |
intron_variant | MODIFIER | c.310+38358A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116199110 | ||||||
| chr12:116199278
|
T | C | 5 | a0001c0001t0001g0070a0001c0001t0001g0192a0001c0001t0001g0223others(2): Show | 5 | HG00408.hp1 HG01433.hp2 HG01978.hp1 others(2): Show |
intron_variant | MODIFIER | c.310+38190A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116199278 | ||||||
| chr12:116199310
|
A | G | 1 | a0001c0001t0003g0014 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.310+38158T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116199310 | ||||||
| chr12:116199372
|
G | T | 1 | a0001c0001t0001g0222 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.310+38096C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116199372 | ||||||
| chr12:116199530
|
A | T | 1 | a0006c0019t0001g0099 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.310+37938T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116199530 | ||||||
| chr12:116199750
|
A | G | 1 | a0001c0001t0001g0107 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.310+37718T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116199750 | ||||||
| chr12:116199836
|
A | C | 11 | a0001c0001t0001g0243a0001c0001t0008g0005a0001c0004t0001g0067others(8): Show | 11 | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(8): Show |
intron_variant | MODIFIER | c.310+37632T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116199836 | ||||||
| chr12:116199846
|
T | G | 1 | a0001c0001t0001g0125 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.310+37622A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116199846 | ||||||
| chr12:116199850
|
A | G | 1 | a0001c0002t0002g0050 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.310+37618T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116199850 | ||||||
| chr12:116200056
|
G | A | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+37412C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116200056 | ||||||
| chr12:116200079
|
CA | C | 223 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0041others(220): Show | 223 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(220): Show |
intron_variant | MODIFIER | c.310+37388delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116200079 | ||||||
| chr12:116200132
|
T | C | 1 | a0001c0002t0002g0048 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.310+37336A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116200132 | ||||||
| chr12:116200374
|
T | C | 5 | a0001c0002t0002g0048a0001c0002t0002g0059a0001c0002t0002g0063others(2): Show | 5 | NA18950.hp1 NA18964.hp2 NA18965.hp2 others(2): Show |
intron_variant | MODIFIER | c.310+37094A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116200374 | ||||||
| chr12:116200587
|
G | A | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.310+36881C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116200587 | ||||||
| chr12:116200640
|
T | G | 58 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.310+36828A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116200640 | ||||||
| chr12:116200797
|
C | G | 2 | a0001c0002t0002g0059a0001c0002t0002g0063 | 2 | NA18950.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.310+36671G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116200797 | ||||||
| chr12:116200953
|
C | A | 1 | a0001c0002t0002g0198 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.310+36515G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116200953 | ||||||
| chr12:116201297
|
A | G | 1 | a0001c0001t0001g0136 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.310+36171T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116201297 | ||||||
| chr12:116201361
|
C | T | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.310+36107G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116201361 | ||||||
| chr12:116201794
|
T | C | 2 | a0001c0001t0003g0023a0001c0001t0004g0183 | 2 | HG00642.hp1 HG00733.hp2 |
intron_variant | MODIFIER | c.310+35674A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116201794 | ||||||
| chr12:116201916
|
A | G | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.310+35552T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116201916 | ||||||
| chr12:116201930
|
G | A | 1 | a0001c0005t0001g0157 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.310+35538C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116201930 | ||||||
| chr12:116202016
|
A | T | 1 | a0001c0001t0003g0003 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.310+35452T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116202016 | ||||||
| chr12:116202093
|
G | A | 1 | a0001c0001t0001g0236 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.310+35375C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116202093 | ||||||
| chr12:116202249
|
G | A | 1 | a0001c0001t0017g0254 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.310+35219C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116202249 | ||||||
| chr12:116202348
|
A | G | 1 | a0001c0002t0002g0178 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.310+35120T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116202348 | ||||||
| chr12:116202601
|
A | G | 1 | a0001c0004t0001g0067 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.310+34867T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116202601 | ||||||
| chr12:116202764
|
C | T | 1 | a0001c0001t0001g0179 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.310+34704G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116202764 | ||||||
| chr12:116203000
|
C | T | 1 | a0001c0001t0001g0222 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.310+34468G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116203000 | ||||||
| chr12:116203415
|
G | GT | 22 | a0001c0001t0001g0087a0001c0001t0001g0158a0001c0001t0001g0159others(19): Show | 22 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(19): Show |
intron_variant | MODIFIER | c.310+34052dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116203415 | ||||||
| chr12:116203415
|
GT | G | 42 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(39): Show | 42 | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(39): Show |
intron_variant | MODIFIER | c.310+34052delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116203415 | ||||||
| chr12:116203802
|
T | C | 3 | a0001c0001t0003g0017a0001c0010t0001g0111a0008c0011t0002g0132 | 3 | HG00544.hp2 HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.310+33666A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116203802 | ||||||
| chr12:116203810
|
G | C | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+33658C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116203810 | ||||||
| chr12:116203866
|
A | C | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.310+33602T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116203866 | ||||||
| chr12:116204217
|
G | A | 1 | a0001c0005t0001g0096 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.310+33251C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116204217 | ||||||
| chr12:116204238
|
T | A | 2 | a0001c0002t0002g0083a0001c0002t0006g0010 | 2 | NA18949.hp1 NA18981.hp2 |
intron_variant | MODIFIER | c.310+33230A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116204238 | ||||||
| chr12:116204407
|
T | G | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+33061A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116204407 | ||||||
| chr12:116204850
|
G | A | 1 | a0001c0001t0003g0017 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.310+32618C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116204850 | ||||||
| chr12:116204940
|
A | C | 1 | a0001c0001t0006g0013 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.310+32528T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116204940 | ||||||
| chr12:116205085
|
C | G | 1 | a0001c0017t0001g0249 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.310+32383G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116205085 | ||||||
| chr12:116205120
|
C | A | 2 | a0001c0001t0001g0041a0001c0001t0001g0129 | 2 | NA18981.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.310+32348G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116205120 | ||||||
| chr12:116205130
|
G | A | 1 | a0001c0001t0001g0170 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.310+32338C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116205130 | ||||||
| chr12:116205263
|
G | A | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.310+32205C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116205263 | ||||||
| chr12:116205343
|
G | C | 1 | a0001c0002t0009g0031 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.310+32125C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116205343 | ||||||
| chr12:116205432
|
T | C | 1 | a0001c0002t0002g0060 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.310+32036A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116205432 | ||||||
| chr12:116205493
|
T | C | 1 | a0001c0001t0007g0001 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.310+31975A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116205493 | ||||||
| chr12:116205532
|
GA | G | 136 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(133): Show | 136 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.310+31935delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116205532 | ||||||
| chr12:116205802
|
C | T | 1 | a0001c0005t0001g0098 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.310+31666G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116205802 | ||||||
| chr12:116205942
|
G | GT | 52 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0047others(49): Show | 52 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(49): Show |
intron_variant | MODIFIER | c.310+31525dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116205942 | ||||||
| chr12:116205942
|
G | GTT | 7 | a0001c0002t0002g0046a0001c0002t0002g0049a0001c0002t0002g0072others(4): Show | 7 | HG02738.hp2 NA18965.hp2 NA18977.hp2 others(4): Show |
intron_variant | MODIFIER | c.310+31524_310+3152 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116205942 | ||||||
| chr12:116205942
|
GT | G | 124 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(121): Show | 124 | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(121): Show |
intron_variant | MODIFIER | c.310+31525delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116205942 | ||||||
| chr12:116206074
|
C | CT | 72 | a0001c0001t0001g0032a0001c0001t0001g0043a0001c0001t0001g0087others(69): Show | 72 | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(69): Show |
intron_variant | MODIFIER | c.310+31393dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116206074 | ||||||
| chr12:116206074
|
C | CTT | 6 | a0001c0001t0001g0103a0001c0001t0001g0109a0001c0001t0001g0122others(3): Show | 6 | HG02071.hp2 HG03688.hp2 NA18965.hp1 others(3): Show |
intron_variant | MODIFIER | c.310+31392_310+3139 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116206074 | ||||||
| chr12:116206159
|
C | T | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.310+31309G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116206159 | ||||||
| chr12:116206194
|
C | T | 1 | a0001c0002t0002g0051 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.310+31274G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116206194 | ||||||
| chr12:116206206
|
A | G | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+31262T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116206206 | ||||||
| chr12:116206551
|
C | T | 1 | a0001c0003t0001g0126 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.310+30917G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116206551 | ||||||
| chr12:116206575
|
C | T | 1 | a0001c0001t0001g0205 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.310+30893G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116206575 | ||||||
| chr12:116206629
|
T | C | 1 | a0001c0002t0002g0062 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.310+30839A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116206629 | ||||||
| chr12:116206855
|
C | T | 1 | a0001c0001t0001g0104 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.310+30613G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116206855 | ||||||
| chr12:116206865
|
A | G | 58 | a0001c0001t0001g0091a0001c0002t0002g0038a0001c0002t0002g0039others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.310+30603T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116206865 | ||||||
| chr12:116207081
|
G | T | 55 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(52): Show | 55 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(52): Show |
intron_variant | MODIFIER | c.310+30387C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116207081 | ||||||
| chr12:116207235
|
G | A | 1 | a0001c0001t0001g0104 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.310+30233C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116207235 | ||||||
| chr12:116207322
|
C | G | 1 | a0001c0001t0001g0150 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.310+30146G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116207322 | ||||||
| chr12:116207347
|
G | A | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.310+30121C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116207347 | ||||||
| chr12:116207615
|
T | C | 175 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0043others(172): Show | 175 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(172): Show |
intron_variant | MODIFIER | c.310+29853A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116207615 | ||||||
| chr12:116207650
|
C | A | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+29818G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116207650 | ||||||
| chr12:116207678
|
A | G | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+29790T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116207678 | ||||||
| chr12:116207699
|
T | C | 1 | a0001c0001t0013g0135 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.310+29769A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116207699 | ||||||
| chr12:116207715
|
C | T | 24 | a0001c0001t0001g0087a0001c0001t0001g0158a0001c0001t0001g0159others(21): Show | 24 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(21): Show |
intron_variant | MODIFIER | c.310+29753G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116207715 | ||||||
| chr12:116207968
|
G | A | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.310+29500C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116207968 | ||||||
| chr12:116208249
|
T | C | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.310+29219A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116208249 | ||||||
| chr12:116208399
|
A | AAC | 34 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(31): Show | 34 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(31): Show |
intron_variant | MODIFIER | c.310+29067_310+2906 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116208399 | ||||||
| chr12:116208607
|
T | C | 1 | a0005c0018t0001g0217 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.310+28861A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116208607 | ||||||
| chr12:116209016
|
C | T | 84 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(81): Show | 84 | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(81): Show |
intron_variant | MODIFIER | c.310+28452G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116209016 | ||||||
| chr12:116209373
|
T | C | 234 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(231): Show | 234 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(231): Show |
intron_variant | MODIFIER | c.310+28095A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116209373 | ||||||
| chr12:116209555
|
C | T | 1 | a0001c0001t0001g0227 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.310+27913G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116209555 | ||||||
| chr12:116210164
|
G | T | 1 | a0001c0008t0003g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.310+27304C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210164 | ||||||
| chr12:116210381
|
T | C | 3 | a0001c0001t0004g0068a0001c0001t0004g0210a0009c0023t0004g0206 | 3 | HG00280.hp1 HG00735.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.310+27087A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210381 | ||||||
| chr12:116210539
|
G | A | 1 | a0001c0001t0001g0141 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.310+26929C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210539 | ||||||
| chr12:116210551
|
C | CTA | 22 | a0001c0001t0001g0052a0001c0001t0001g0128a0001c0001t0001g0133others(19): Show | 22 | HG00140.hp1 HG00558.hp1 HG01081.hp2 others(19): Show |
intron_variant | MODIFIER | c.310+26915_310+2691 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210551 | ||||||
| chr12:116210551
|
C | CTATA | 19 | a0001c0001t0001g0064a0001c0001t0001g0071a0001c0001t0001g0129others(16): Show | 19 | HG00597.hp1 HG01123.hp2 HG02165.hp2 others(16): Show |
intron_variant | MODIFIER | c.310+26913_310+2691 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210551 | ||||||
| chr12:116210551
|
C | CTATATA | 18 | a0001c0001t0001g0035a0001c0001t0001g0041a0001c0001t0001g0082others(15): Show | 18 | HG01074.hp1 HG01081.hp1 HG01261.hp1 others(15): Show |
intron_variant | MODIFIER | c.310+26911_310+2691 others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210551 | ||||||
| chr12:116210551
|
C | CTATATAT others(13): Show |
1 | a0003c0009t0001g0200 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.310+26897_310+2691 others(24): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210551 | ||||||
| chr12:116210551
|
C | CTATATAT others(15): Show |
3 | a0001c0001t0001g0162a0001c0001t0001g0227a0001c0003t0012g0110 | 3 | HG00741.hp2 HG02280.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.310+26895_310+2691 others(26): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210551 | ||||||
| chr12:116210551
|
C | CTATATAT others(19): Show |
1 | a0001c0001t0001g0100 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.310+26891_310+2691 others(30): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210551 | ||||||
| chr12:116210551
|
C | CTATATAT others(21): Show |
2 | a0001c0001t0001g0089a0001c0001t0001g0091 | 2 | NA18955.hp2 NA18979.hp2 |
intron_variant | MODIFIER | c.310+26889_310+2691 others(32): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210551 | ||||||
| chr12:116210551
|
C | CTATATAT others(23): Show |
3 | a0001c0001t0001g0090a0001c0001t0001g0093a0001c0001t0001g0226 | 3 | HG02083.hp1 NA18962.hp2 NA18990.hp1 |
intron_variant | MODIFIER | c.310+26887_310+2691 others(34): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210551 | ||||||
| chr12:116210551
|
C | CTATATAT others(33): Show |
1 | a0001c0001t0001g0092 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.310+26916_310+2691 others(44): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210551 | ||||||
| chr12:116210551
|
CTA | C | 25 | a0001c0001t0001g0045a0001c0001t0001g0113a0001c0001t0001g0220others(22): Show | 25 | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(22): Show |
intron_variant | MODIFIER | c.310+26915_310+2691 others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210551 | ||||||
| chr12:116210551
|
CTATA | C | 73 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0043others(70): Show | 73 | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(70): Show |
intron_variant | MODIFIER | c.310+26913_310+2691 others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210551 | ||||||
| chr12:116210551
|
CTATATA | C | 13 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0104others(10): Show | 13 | HG00544.hp2 HG00733.hp1 HG01123.hp1 others(10): Show |
intron_variant | MODIFIER | c.310+26911_310+2691 others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210551 | ||||||
| chr12:116210551
|
CTATATAT others(3): Show |
C | 12 | a0001c0001t0001g0243a0001c0001t0001g0247a0001c0004t0001g0067others(9): Show | 12 | HG00280.hp2 HG00323.hp1 HG00735.hp2 others(9): Show |
intron_variant | MODIFIER | c.310+26907_310+2691 others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210551 | ||||||
| chr12:116210631
|
G | A | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.310+26837C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210631 | ||||||
| chr12:116210962
|
C | T | 1 | a0001c0001t0001g0108 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.310+26506G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116210962 | ||||||
| chr12:116211618
|
G | A | 1 | a0001c0003t0001g0126 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.310+25850C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116211618 | ||||||
| chr12:116212164
|
G | GAAC | 84 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(81): Show | 84 | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(81): Show |
intron_variant | MODIFIER | c.310+25301_310+2530 others(7): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116212164 | ||||||
| chr12:116212239
|
C | A | 8 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(5): Show | 8 | HG02257.hp1 HG02559.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.310+25229G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116212239 | ||||||
| chr12:116212279
|
T | C | 1 | a0001c0001t0001g0171 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.310+25189A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116212279 | ||||||
| chr12:116212957
|
G | C | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.310+24511C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116212957 | ||||||
| chr12:116212998
|
A | G | 36 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(33): Show | 36 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.310+24470T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116212998 | ||||||
| chr12:116213036
|
T | C | 1 | a0001c0002t0002g0050 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.310+24432A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116213036 | ||||||
| chr12:116213088
|
A | G | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.310+24380T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116213088 | ||||||
| chr12:116213182
|
T | C | 1 | a0001c0008t0003g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.310+24286A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116213182 | ||||||
| chr12:116213238
|
A | G | 1 | a0001c0001t0004g0207 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.310+24230T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116213238 | ||||||
| chr12:116213253
|
G | A | 2 | a0001c0002t0002g0059a0001c0002t0002g0063 | 2 | NA18950.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.310+24215C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116213253 | ||||||
| chr12:116213319
|
A | C | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.310+24149T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116213319 | ||||||
| chr12:116213385
|
T | C | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.310+24083A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116213385 | ||||||
| chr12:116213404
|
G | GT | 234 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(231): Show | 234 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(231): Show |
intron_variant | MODIFIER | c.310+24063dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116213404 | ||||||
| chr12:116213474
|
C | T | 1 | a0001c0001t0007g0002 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.310+23994G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116213474 | ||||||
| chr12:116213956
|
T | A | 2 | a0001c0003t0001g0127a0001c0003t0001g0250 | 2 | HG03453.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.310+23512A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116213956 | ||||||
| chr12:116213960
|
G | A | 1 | a0001c0001t0001g0213 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.310+23508C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116213960 | ||||||
| chr12:116213978
|
A | G | 36 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(33): Show | 36 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.310+23490T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116213978 | ||||||
| chr12:116214151
|
T | C | 1 | a0003c0009t0001g0200 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.310+23317A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116214151 | ||||||
| chr12:116214891
|
G | A | 4 | a0001c0001t0001g0082a0001c0001t0001g0203a0001c0001t0001g0212others(1): Show | 4 | NA18949.hp2 NA19074.hp2 NA19079.hp1 others(1): Show |
intron_variant | MODIFIER | c.310+22577C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116214891 | ||||||
| chr12:116215164
|
C | T | 2 | a0001c0001t0001g0041a0001c0001t0001g0129 | 2 | NA18981.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.310+22304G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116215164 | ||||||
| chr12:116215271
|
C | A | 2 | a0001c0001t0001g0228a0001c0001t0003g0011 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.310+22197G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116215271 | ||||||
| chr12:116215789
|
C | T | 36 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(33): Show | 36 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.310+21679G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116215789 | ||||||
| chr12:116216097
|
C | A | 2 | a0001c0001t0001g0064a0001c0001t0001g0169 | 2 | HG02523.hp1 NA18974.hp2 |
intron_variant | MODIFIER | c.310+21371G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116216097 | ||||||
| chr12:116216138
|
C | T | 1 | a0001c0001t0001g0190 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.310+21330G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116216138 | ||||||
| chr12:116216391
|
T | C | 3 | a0001c0002t0002g0049a0001c0002t0002g0084a0001c0002t0009g0030 | 3 | HG00323.hp2 NA19060.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.310+21077A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116216391 | ||||||
| chr12:116216502
|
C | T | 17 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(14): Show | 17 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(14): Show |
intron_variant | MODIFIER | c.310+20966G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116216502 | ||||||
| chr12:116216596
|
C | A | 1 | a0001c0002t0006g0008 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.310+20872G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116216596 | ||||||
| chr12:116216805
|
G | A | 1 | a0001c0002t0002g0046 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.310+20663C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116216805 | ||||||
| chr12:116216971
|
C | T | 1 | a0003c0009t0001g0200 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.310+20497G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116216971 | ||||||
| chr12:116216983
|
A | C | 1 | a0001c0001t0001g0229 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.310+20485T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116216983 | ||||||
| chr12:116217051
|
T | C | 1 | a0001c0001t0001g0159 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.310+20417A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116217051 | ||||||
| chr12:116217067
|
T | C | 1 | a0001c0001t0003g0012 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.310+20401A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116217067 | ||||||
| chr12:116217445
|
A | G | 1 | a0001c0004t0001g0244 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.310+20023T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116217445 | ||||||
| chr12:116217691
|
T | C | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+19777A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116217691 | ||||||
| chr12:116217989
|
C | G | 1 | a0001c0001t0001g0196 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.310+19479G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116217989 | ||||||
| chr12:116218200
|
G | A | 1 | a0001c0010t0001g0111 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.310+19268C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116218200 | ||||||
| chr12:116218214
|
G | A | 3 | a0001c0001t0004g0232a0001c0001t0004g0241a0001c0001t0008g0025 | 3 | HG01978.hp2 HG02293.hp2 HG02683.hp2 |
intron_variant | MODIFIER | c.310+19254C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116218214 | ||||||
| chr12:116218408
|
A | C | 22 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(19): Show | 22 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.310+19060T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116218408 | ||||||
| chr12:116218563
|
A | AT | 6 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(3): Show | 6 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.310+18904dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116218563 | ||||||
| chr12:116218686
|
C | CT | 10 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0092others(7): Show | 10 | HG00280.hp1 HG00280.hp2 HG00741.hp2 others(7): Show |
intron_variant | MODIFIER | c.310+18781dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116218686 | ||||||
| chr12:116218798
|
A | G | 1 | a0001c0001t0001g0117 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.310+18670T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116218798 | ||||||
| chr12:116218836
|
T | C | 1 | a0001c0002t0002g0048 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.310+18632A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116218836 | ||||||
| chr12:116219042
|
G | A | 1 | a0001c0001t0001g0196 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.310+18426C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116219042 | ||||||
| chr12:116219076
|
G | A | 1 | a0001c0001t0001g0082 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.310+18392C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116219076 | ||||||
| chr12:116219122
|
T | G | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.310+18346A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116219122 | ||||||
| chr12:116219275
|
A | C | 1 | a0001c0001t0001g0154 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.310+18193T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116219275 | ||||||
| chr12:116219526
|
A | C | 1 | a0001c0001t0001g0243 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.310+17942T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116219526 | ||||||
| chr12:116219655
|
T | C | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+17813A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116219655 | ||||||
| chr12:116219828
|
C | G | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.310+17640G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116219828 | ||||||
| chr12:116220258
|
T | A | 1 | a0001c0001t0001g0154 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.310+17210A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116220258 | ||||||
| chr12:116220357
|
A | G | 10 | a0001c0001t0002g0094a0001c0001t0005g0184a0001c0001t0006g0013others(7): Show | 10 | HG01261.hp1 HG02145.hp2 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.310+17111T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116220357 | ||||||
| chr12:116220592
|
G | C | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.310+16876C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116220592 | ||||||
| chr12:116220642
|
T | C | 1 | a0001c0002t0002g0177 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.310+16826A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116220642 | ||||||
| chr12:116220711
|
C | T | 17 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(14): Show | 17 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(14): Show |
intron_variant | MODIFIER | c.310+16757G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116220711 | ||||||
| chr12:116221045
|
T | C | 1 | a0001c0002t0002g0075 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.310+16423A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116221045 | ||||||
| chr12:116221111
|
A | C | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+16357T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116221111 | ||||||
| chr12:116221239
|
G | A | 3 | a0001c0003t0001g0164a0001c0003t0001g0185a0001c0003t0003g0024 | 3 | HG02145.hp2 HG02895.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.310+16229C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116221239 | ||||||
| chr12:116221373
|
T | TA | 25 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(22): Show | 25 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(22): Show |
intron_variant | MODIFIER | c.310+16094dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116221373 | ||||||
| chr12:116221373
|
TA | T | 6 | a0001c0001t0001g0090a0001c0001t0001g0125a0001c0001t0001g0150others(3): Show | 6 | HG01515.hp2 HG03239.hp2 NA18946.hp2 others(3): Show |
intron_variant | MODIFIER | c.310+16094delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116221373 | ||||||
| chr12:116221422
|
A | G | 8 | a0001c0001t0005g0184a0001c0003t0001g0126a0001c0003t0001g0127others(5): Show | 8 | HG02145.hp2 HG02486.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.310+16046T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116221422 | ||||||
| chr12:116221505
|
C | G | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.310+15963G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116221505 | ||||||
| chr12:116221555
|
A | G | 3 | a0001c0001t0001g0152a0001c0001t0001g0155a0001c0001t0001g0173 | 3 | HG02015.hp2 NA18955.hp1 NA18984.hp2 |
intron_variant | MODIFIER | c.310+15913T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116221555 | ||||||
| chr12:116221704
|
T | C | 22 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(19): Show | 22 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.310+15764A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116221704 | ||||||
| chr12:116222259
|
G | A | 1 | a0001c0002t0002g0178 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.310+15209C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116222259 | ||||||
| chr12:116222432
|
T | C | 5 | a0001c0001t0002g0094a0001c0001t0006g0013a0001c0005t0001g0095others(2): Show | 5 | HG01261.hp1 HG02717.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.310+15036A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116222432 | ||||||
| chr12:116222453
|
G | C | 1 | a0001c0001t0001g0150 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.310+15015C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116222453 | ||||||
| chr12:116222784
|
T | C | 2 | a0001c0002t0002g0038a0001c0002t0002g0180 | 2 | HG06807.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.310+14684A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116222784 | ||||||
| chr12:116222891
|
T | C | 1 | a0001c0001t0001g0195 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.310+14577A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116222891 | ||||||
| chr12:116222994
|
T | C | 1 | a0001c0001t0001g0251 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.310+14474A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116222994 | ||||||
| chr12:116223189
|
T | C | 1 | a0001c0002t0002g0077 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.310+14279A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116223189 | ||||||
| chr12:116223430
|
C | T | 1 | a0001c0002t0002g0050 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.310+14038G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116223430 | ||||||
| chr12:116223517
|
G | C | 1 | a0001c0001t0001g0215 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.310+13951C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116223517 | ||||||
| chr12:116223561
|
G | A | 1 | a0001c0001t0001g0222 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.310+13907C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116223561 | ||||||
| chr12:116223845
|
A | G | 1 | a0003c0009t0001g0200 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.310+13623T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116223845 | ||||||
| chr12:116224381
|
T | G | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.310+13087A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116224381 | ||||||
| chr12:116224616
|
A | C | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.310+12852T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116224616 | ||||||
| chr12:116225098
|
T | C | 1 | a0001c0002t0011g0124 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.310+12370A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116225098 | ||||||
| chr12:116225134
|
A | G | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.310+12334T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116225134 | ||||||
| chr12:116225272
|
T | C | 1 | a0001c0005t0001g0157 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.310+12196A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116225272 | ||||||
| chr12:116225328
|
T | C | 7 | a0001c0001t0001g0128a0001c0001t0001g0130a0001c0001t0001g0166others(4): Show | 7 | HG00558.hp2 HG00621.hp1 HG02071.hp1 others(4): Show |
intron_variant | MODIFIER | c.310+12140A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116225328 | ||||||
| chr12:116225352
|
T | C | 1 | a0001c0002t0002g0198 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.310+12116A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116225352 | ||||||
| chr12:116225373
|
C | A | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.310+12095G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116225373 | ||||||
| chr12:116225430
|
A | G | 1 | a0006c0019t0001g0099 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.310+12038T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116225430 | ||||||
| chr12:116225435
|
C | T | 81 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(78): Show | 81 | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(78): Show |
intron_variant | MODIFIER | c.310+12033G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116225435 | ||||||
| chr12:116225827
|
T | G | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.310+11641A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116225827 | ||||||
| chr12:116226001
|
A | G | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.310+11467T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116226001 | ||||||
| chr12:116226032
|
G | C | 35 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(32): Show | 35 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(32): Show |
intron_variant | MODIFIER | c.310+11436C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116226032 | ||||||
| chr12:116226059
|
CT | C | 230 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(227): Show | 230 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(227): Show |
intron_variant | MODIFIER | c.310+11408delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116226059 | ||||||
| chr12:116226229
|
T | C | 1 | a0001c0001t0001g0149 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.310+11239A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116226229 | ||||||
| chr12:116226776
|
G | A | 2 | a0001c0001t0001g0130a0001c0001t0001g0166 | 2 | HG00621.hp1 NA18972.hp1 |
intron_variant | MODIFIER | c.310+10692C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116226776 | ||||||
| chr12:116226798
|
C | T | 1 | a0001c0004t0001g0211 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.310+10670G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116226798 | ||||||
| chr12:116226868
|
C | CA | 30 | a0001c0001t0001g0082a0001c0001t0001g0130a0001c0001t0001g0141others(27): Show | 30 | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(27): Show |
intron_variant | MODIFIER | c.310+10599dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116226868 | ||||||
| chr12:116226931
|
T | C | 4 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(1): Show | 4 | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.310+10537A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116226931 | ||||||
| chr12:116226958
|
G | GT | 9 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0092others(6): Show | 9 | HG00741.hp2 HG01168.hp1 HG02083.hp1 others(6): Show |
intron_variant | MODIFIER | c.310+10509dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116226958 | ||||||
| chr12:116227106
|
G | A | 1 | a0001c0002t0002g0051 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.310+10362C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116227106 | ||||||
| chr12:116227294
|
T | C | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+10174A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116227294 | ||||||
| chr12:116227435
|
G | A | 1 | a0001c0001t0001g0251 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.310+10033C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116227435 | ||||||
| chr12:116227451
|
G | A | 1 | a0001c0003t0001g0185 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.310+10017C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116227451 | ||||||
| chr12:116227630
|
C | G | 3 | a0001c0002t0002g0081a0001c0002t0002g0199a0001c0002t0002g0237 | 3 | NA19005.hp2 NA19012.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.310+9838G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116227630 | ||||||
| chr12:116227638
|
A | G | 1 | a0001c0002t0002g0062 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.310+9830T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116227638 | ||||||
| chr12:116227813
|
A | G | 1 | a0001c0002t0009g0031 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.310+9655T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116227813 | ||||||
| chr12:116227943
|
A | T | 5 | a0001c0002t0002g0051a0001c0002t0002g0178a0001c0002t0011g0124others(2): Show | 5 | HG00140.hp2 HG03209.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.310+9525T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116227943 | ||||||
| chr12:116228462
|
C | T | 4 | a0001c0001t0001g0032a0001c0001t0001g0103a0001c0001t0003g0015others(1): Show | 4 | HG00597.hp2 NA18972.hp2 NA19005.hp1 others(1): Show |
intron_variant | MODIFIER | c.310+9006G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116228462 | ||||||
| chr12:116228476
|
GCCCAACT others(23): Show |
G | 1 | a0001c0002t0002g0050 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.310+8962_310+8991d others(32): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116228476 | ||||||
| chr12:116228753
|
T | C | 2 | a0001c0003t0001g0127a0001c0003t0001g0250 | 2 | HG03453.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.310+8715A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116228753 | ||||||
| chr12:116228898
|
T | C | 4 | a0001c0001t0001g0032a0001c0001t0001g0103a0001c0001t0003g0015others(1): Show | 4 | HG00597.hp2 NA18972.hp2 NA19005.hp1 others(1): Show |
intron_variant | MODIFIER | c.310+8570A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116228898 | ||||||
| chr12:116229310
|
A | G | 1 | a0001c0002t0002g0119 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.310+8158T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116229310 | ||||||
| chr12:116229360
|
T | C | 1 | a0001c0003t0001g0127 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.310+8108A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116229360 | ||||||
| chr12:116230504
|
A | G | 1 | a0001c0001t0007g0002 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.310+6964T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116230504 | ||||||
| chr12:116230636
|
T | C | 3 | a0001c0003t0001g0164a0001c0003t0001g0185a0001c0003t0003g0024 | 3 | HG02145.hp2 HG02895.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.310+6832A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116230636 | ||||||
| chr12:116231655
|
T | C | 1 | a0001c0001t0001g0213 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.310+5813A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116231655 | ||||||
| chr12:116231767
|
G | A | 1 | a0001c0001t0001g0130 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.310+5701C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116231767 | ||||||
| chr12:116231893
|
G | A | 1 | a0001c0005t0001g0098 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.310+5575C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116231893 | ||||||
| chr12:116232076
|
A | G | 1 | a0001c0001t0007g0002 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.310+5392T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116232076 | ||||||
| chr12:116232083
|
A | T | 55 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(52): Show | 55 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(52): Show |
intron_variant | MODIFIER | c.310+5385T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116232083 | ||||||
| chr12:116232266
|
C | T | 1 | a0001c0001t0001g0194 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.310+5202G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116232266 | ||||||
| chr12:116232454
|
T | A | 1 | a0001c0002t0002g0075 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.310+5014A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116232454 | ||||||
| chr12:116232541
|
C | T | 1 | a0001c0003t0001g0185 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.310+4927G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116232541 | ||||||
| chr12:116232684
|
T | C | 1 | a0001c0016t0001g0167 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.310+4784A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116232684 | ||||||
| chr12:116232860
|
G | A | 16 | a0001c0001t0001g0087a0001c0001t0001g0179a0001c0001t0001g0219others(13): Show | 16 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(13): Show |
intron_variant | MODIFIER | c.310+4608C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116232860 | ||||||
| chr12:116232861
|
C | A | 1 | a0001c0002t0002g0116 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.310+4607G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116232861 | ||||||
| chr12:116233090
|
G | GA | 5 | a0001c0001t0004g0201a0001c0002t0002g0237a0001c0003t0012g0110others(2): Show | 5 | HG00423.hp2 HG02258.hp2 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.310+4377dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116233090 | ||||||
| chr12:116233090
|
GA | G | 6 | a0001c0001t0001g0109a0001c0001t0001g0213a0001c0002t0002g0053others(3): Show | 6 | HG01081.hp1 HG02451.hp1 HG02698.hp2 others(3): Show |
intron_variant | MODIFIER | c.310+4377delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116233090 | ||||||
| chr12:116233115
|
G | C | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.310+4353C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116233115 | ||||||
| chr12:116233243
|
T | C | 1 | a0001c0001t0001g0161 | 1 | NA18963.hp1 | intron_variant | MODIFIER | c.310+4225A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116233243 | ||||||
| chr12:116233297
|
T | C | 1 | a0001c0001t0007g0002 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.310+4171A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116233297 | ||||||
| chr12:116233380
|
G | A | 1 | a0001c0001t0001g0113 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.310+4088C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116233380 | ||||||
| chr12:116233551
|
A | G | 1 | a0001c0001t0003g0007 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.310+3917T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116233551 | ||||||
| chr12:116234047
|
C | G | 3 | a0001c0001t0004g0068a0001c0001t0004g0210a0009c0023t0004g0206 | 3 | HG00280.hp1 HG00735.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.310+3421G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116234047 | ||||||
| chr12:116234215
|
C | CTATT | 108 | a0001c0001t0001g0035a0001c0001t0001g0043a0001c0001t0001g0044others(105): Show | 108 | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(105): Show |
intron_variant | MODIFIER | c.310+3249_310+3252d others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116234215 | ||||||
| chr12:116234215
|
C | CTATTTAT others(1): Show |
11 | a0001c0001t0001g0113a0001c0001t0001g0173a0001c0001t0001g0221others(8): Show | 11 | HG00438.hp1 HG02074.hp1 HG02523.hp2 others(8): Show |
intron_variant | MODIFIER | c.310+3245_310+3252d others(10): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116234215 | ||||||
| chr12:116234215
|
C | CTATTTAT others(5): Show |
2 | a0001c0001t0001g0220a0001c0001t0003g0012 | 2 | HG00544.hp1 HG02071.hp2 |
intron_variant | MODIFIER | c.310+3241_310+3252d others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116234215 | ||||||
| chr12:116234276
|
A | G | 247 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(244): Show | 247 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(244): Show |
intron_variant | MODIFIER | c.310+3192T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116234276 | ||||||
| chr12:116234330
|
C | T | 1 | a0001c0001t0001g0161 | 1 | NA18963.hp1 | intron_variant | MODIFIER | c.310+3138G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116234330 | ||||||
| chr12:116234452
|
A | C | 1 | a0001c0001t0001g0136 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.310+3016T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116234452 | ||||||
| chr12:116234904
|
T | G | 1 | a0001c0005t0001g0098 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.310+2564A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116234904 | ||||||
| chr12:116235060
|
T | C | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.310+2408A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116235060 | ||||||
| chr12:116235479
|
C | T | 1 | a0001c0001t0001g0168 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.310+1989G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116235479 | ||||||
| chr12:116235791
|
T | G | 2 | a0001c0001t0001g0228a0001c0001t0003g0011 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.310+1677A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116235791 | ||||||
| chr12:116236076
|
T | C | 49 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(46): Show | 49 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(46): Show |
intron_variant | MODIFIER | c.310+1392A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116236076 | ||||||
| chr12:116236721
|
G | A | 2 | a0001c0002t0002g0083a0001c0002t0006g0010 | 2 | NA18949.hp1 NA18981.hp2 |
intron_variant | MODIFIER | c.310+747C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116236721 | ||||||
| chr12:116236753
|
T | G | 1 | a0007c0015t0001g0033 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.310+715A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116236753 | ||||||
| chr12:116236764
|
C | T | 1 | a0001c0001t0001g0149 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.310+704G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116236764 | ||||||
| chr12:116236796
|
C | G | 11 | a0001c0001t0001g0243a0001c0001t0008g0005a0001c0004t0001g0067others(8): Show | 11 | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(8): Show |
intron_variant | MODIFIER | c.310+672G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116236796 | ||||||
| chr12:116236819
|
A | G | 45 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(42): Show | 45 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(42): Show |
intron_variant | MODIFIER | c.310+649T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116236819 | ||||||
| chr12:116236877
|
G | A | 1 | a0001c0003t0016g0253 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.310+591C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116236877 | ||||||
| chr12:116236983
|
CT | C | 33 | a0001c0001t0001g0087a0001c0001t0001g0089a0001c0001t0001g0090others(30): Show | 33 | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(30): Show |
intron_variant | MODIFIER | c.310+484delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116236983 | ||||||
| chr12:116237026
|
G | C | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.310+442C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116237026 | ||||||
| chr12:116237030
|
C | T | 1 | a0001c0001t0007g0002 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.310+438G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116237030 | ||||||
| chr12:116237247
|
T | G | 12 | a0001c0001t0001g0162a0001c0001t0001g0243a0001c0001t0008g0005others(9): Show | 12 | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(9): Show |
intron_variant | MODIFIER | c.310+221A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116237247 | ||||||
| chr12:116237266
|
C | T | 1 | a0001c0003t0001g0127 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.310+202G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116237266 | ||||||
| chr12:116237291
|
T | G | 1 | a0001c0001t0001g0194 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.310+177A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | 116237291 | ||||||
| chr12:116237852
|
G | A | 1 | a0001c0001t0001g0100 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.73-147C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116237852 | ||||||
| chr12:116237884
|
C | G | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.73-179G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116237884 | ||||||
| chr12:116237969
|
T | C | 2 | a0001c0002t0002g0038a0001c0002t0002g0180 | 2 | HG06807.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.73-264A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116237969 | ||||||
| chr12:116238031
|
C | A | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.73-326G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116238031 | ||||||
| chr12:116238091
|
T | A | 1 | a0001c0001t0003g0018 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.73-386A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116238091 | ||||||
| chr12:116238745
|
T | C | 1 | a0001c0001t0001g0092 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.73-1040A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116238745 | ||||||
| chr12:116238868
|
G | A | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.73-1163C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116238868 | ||||||
| chr12:116238935
|
A | C | 5 | a0001c0001t0005g0042a0001c0001t0005g0138a0001c0001t0005g0144others(2): Show | 5 | HG01071.hp2 HG01346.hp1 HG01943.hp2 others(2): Show |
intron_variant | MODIFIER | c.73-1230T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116238935 | ||||||
| chr12:116238989
|
G | A | 10 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(7): Show | 10 | HG00280.hp2 HG00741.hp2 HG01168.hp1 others(7): Show |
intron_variant | MODIFIER | c.73-1284C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116238989 | ||||||
| chr12:116239050
|
G | A | 1 | a0001c0002t0009g0030 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.73-1345C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116239050 | ||||||
| chr12:116239228
|
C | G | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.73-1523G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116239228 | ||||||
| chr12:116239242
|
A | T | 1 | a0001c0002t0006g0010 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.73-1537T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116239242 | ||||||
| chr12:116239532
|
C | G | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.73-1827G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116239532 | ||||||
| chr12:116239630
|
A | G | 2 | a0001c0002t0002g0072a0001c0014t0002g0079 | 2 | NA18977.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.73-1925T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116239630 | ||||||
| chr12:116239858
|
T | C | 1 | a0001c0002t0006g0022 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.73-2153A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116239858 | ||||||
| chr12:116240117
|
C | CT | 17 | a0001c0001t0001g0087a0001c0001t0001g0179a0001c0001t0001g0219others(14): Show | 17 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(14): Show |
intron_variant | MODIFIER | c.73-2413dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116240117 | ||||||
| chr12:116240117
|
CT | C | 11 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(8): Show | 11 | HG00280.hp2 HG00741.hp2 HG01168.hp1 others(8): Show |
intron_variant | MODIFIER | c.73-2413delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116240117 | ||||||
| chr12:116240478
|
A | G | 1 | a0001c0001t0001g0149 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.73-2773T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116240478 | ||||||
| chr12:116240536
|
A | AT | 58 | a0001c0001t0001g0091a0001c0002t0002g0038a0001c0002t0002g0039others(55): Show | 58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.73-2832dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116240536 | ||||||
| chr12:116240548
|
T | C | 1 | a0001c0004t0001g0240 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.73-2843A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116240548 | ||||||
| chr12:116240656
|
C | G | 1 | a0001c0002t0002g0077 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.73-2951G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116240656 | ||||||
| chr12:116240698
|
G | A | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.73-2993C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116240698 | ||||||
| chr12:116240749
|
G | C | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.73-3044C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116240749 | ||||||
| chr12:116240763
|
G | A | 1 | a0001c0001t0001g0052 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.73-3058C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116240763 | ||||||
| chr12:116241014
|
A | C | 1 | a0001c0002t0002g0051 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.73-3309T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116241014 | ||||||
| chr12:116241038
|
G | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.73-3333C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116241038 | ||||||
| chr12:116241299
|
G | A | 1 | a0001c0001t0003g0011 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.73-3594C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116241299 | ||||||
| chr12:116241332
|
C | CA | 24 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(21): Show | 24 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(21): Show |
intron_variant | MODIFIER | c.73-3628dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116241332 | ||||||
| chr12:116241339
|
A | C | 2 | a0001c0001t0001g0064a0001c0001t0001g0170 | 2 | HG00673.hp1 NA18974.hp2 |
intron_variant | MODIFIER | c.73-3634T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116241339 | ||||||
| chr12:116241341
|
A | C | 67 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(64): Show | 67 | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(64): Show |
intron_variant | MODIFIER | c.73-3636T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116241341 | ||||||
| chr12:116241343
|
C | A | 129 | a0001c0001t0001g0032a0001c0001t0001g0043a0001c0001t0001g0044others(126): Show | 129 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(126): Show |
intron_variant | MODIFIER | c.73-3638G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116241343 | ||||||
| chr12:116241345
|
C | A | 1 | a0001c0002t0011g0124 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.73-3640G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116241345 | ||||||
| chr12:116241386
|
T | C | 4 | a0001c0002t0002g0050a0001c0002t0002g0081a0001c0002t0002g0199others(1): Show | 4 | NA19005.hp2 NA19012.hp2 NA19079.hp2 others(1): Show |
intron_variant | MODIFIER | c.73-3681A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116241386 | ||||||
| chr12:116241450
|
A | G | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.73-3745T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116241450 | ||||||
| chr12:116241486
|
C | T | 2 | a0001c0002t0002g0072a0001c0014t0002g0079 | 2 | NA18977.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.73-3781G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116241486 | ||||||
| chr12:116242048
|
C | CT | 10 | a0001c0001t0001g0064a0001c0001t0001g0166a0001c0001t0001g0205others(7): Show | 10 | HG01081.hp2 HG01255.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.73-4344dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116242048 | ||||||
| chr12:116242048
|
CT | C | 85 | a0001c0001t0001g0032a0001c0001t0001g0043a0001c0001t0001g0087others(82): Show | 85 | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(82): Show |
intron_variant | MODIFIER | c.73-4344delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116242048 | ||||||
| chr12:116242048
|
CTT | C | 6 | a0001c0001t0001g0102a0001c0001t0001g0112a0001c0001t0001g0125others(3): Show | 6 | HG00558.hp1 HG00733.hp1 HG01123.hp1 others(3): Show |
intron_variant | MODIFIER | c.73-4345_73-4344del others(2): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116242048 | ||||||
| chr12:116242051
|
T | C | 1 | a0001c0001t0008g0005 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.73-4346A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116242051 | ||||||
| chr12:116242206
|
A | G | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.73-4501T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116242206 | ||||||
| chr12:116242547
|
C | T | 1 | a0001c0001t0003g0006 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.73-4842G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116242547 | ||||||
| chr12:116242790
|
A | T | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.73-5085T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116242790 | ||||||
| chr12:116242916
|
G | C | 2 | a0001c0002t0002g0038a0001c0002t0002g0180 | 2 | HG06807.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.73-5211C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116242916 | ||||||
| chr12:116242939
|
C | G | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.73-5234G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116242939 | ||||||
| chr12:116243163
|
G | A | 2 | a0001c0001t0001g0243a0001c0004t0001g0188 | 2 | HG01255.hp1 HG02698.hp2 |
intron_variant | MODIFIER | c.73-5458C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116243163 | ||||||
| chr12:116243170
|
CA | C | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.73-5466delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116243170 | ||||||
| chr12:116243460
|
G | T | 1 | a0001c0001t0001g0214 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.73-5755C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116243460 | ||||||
| chr12:116243489
|
G | A | 36 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(33): Show | 36 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.73-5784C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116243489 | ||||||
| chr12:116243608
|
C | T | 1 | a0001c0005t0001g0095 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.73-5903G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116243608 | ||||||
| chr12:116243625
|
T | C | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.73-5920A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116243625 | ||||||
| chr12:116244448
|
T | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.73-6743A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116244448 | ||||||
| chr12:116244473
|
A | C | 1 | a0001c0001t0004g0201 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73-6768T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116244473 | ||||||
| chr12:116244485
|
T | C | 11 | a0001c0001t0001g0179a0001c0001t0001g0220a0001c0001t0001g0221others(8): Show | 11 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(8): Show |
intron_variant | MODIFIER | c.73-6780A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116244485 | ||||||
| chr12:116244908
|
C | A | 1 | a0001c0010t0001g0111 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.73-7203G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116244908 | ||||||
| chr12:116244977
|
T | G | 1 | a0001c0001t0001g0229 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.73-7272A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116244977 | ||||||
| chr12:116245067
|
A | C | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.73-7362T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116245067 | ||||||
| chr12:116245500
|
A | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.73-7795T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116245500 | ||||||
| chr12:116245575
|
C | G | 1 | a0001c0001t0003g0016 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.73-7870G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116245575 | ||||||
| chr12:116245674
|
A | G | 1 | a0001c0001t0017g0254 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.73-7969T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116245674 | ||||||
| chr12:116245741
|
TAAAC | T | 47 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(44): Show | 47 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(44): Show |
intron_variant | MODIFIER | c.73-8040_73-8037del others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116245741 | ||||||
| chr12:116245783
|
C | T | 12 | a0001c0001t0001g0162a0001c0001t0001g0243a0001c0003t0012g0110others(9): Show | 12 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(9): Show |
intron_variant | MODIFIER | c.73-8078G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116245783 | ||||||
| chr12:116245865
|
C | T | 1 | a0008c0011t0002g0132 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.73-8160G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116245865 | ||||||
| chr12:116246154
|
C | G | 1 | a0001c0003t0001g0164 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.73-8449G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116246154 | ||||||
| chr12:116246206
|
C | CA | 10 | a0001c0001t0001g0035a0001c0001t0001g0162a0001c0001t0001g0238others(7): Show | 10 | HG00673.hp2 HG03139.hp1 HG03225.hp1 others(7): Show |
intron_variant | MODIFIER | c.73-8502dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116246206 | ||||||
| chr12:116246206
|
CA | C | 10 | a0001c0001t0001g0243a0001c0001t0004g0201a0001c0004t0001g0181others(7): Show | 10 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(7): Show |
intron_variant | MODIFIER | c.73-8502delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116246206 | ||||||
| chr12:116246485
|
A | G | 1 | a0001c0001t0017g0254 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.73-8780T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116246485 | ||||||
| chr12:116246619
|
G | C | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.73-8914C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116246619 | ||||||
| chr12:116247199
|
T | G | 4 | a0001c0001t0001g0071a0001c0001t0001g0161a0001c0001t0001g0194others(1): Show | 4 | HG00597.hp1 NA18959.hp1 NA18963.hp1 others(1): Show |
intron_variant | MODIFIER | c.73-9494A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116247199 | ||||||
| chr12:116247237
|
T | TA | 6 | a0001c0003t0012g0110a0001c0005t0001g0095a0001c0005t0001g0096others(3): Show | 6 | HG02280.hp2 HG02717.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.73-9533dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116247237 | ||||||
| chr12:116247237
|
TA | T | 36 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(33): Show | 36 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.73-9533delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116247237 | ||||||
| chr12:116247268
|
A | T | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.73-9563T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116247268 | ||||||
| chr12:116247412
|
G | C | 2 | a0001c0001t0001g0064a0001c0001t0001g0169 | 2 | HG02523.hp1 NA18974.hp2 |
intron_variant | MODIFIER | c.73-9707C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116247412 | ||||||
| chr12:116247446
|
T | C | 1 | a0001c0003t0001g0126 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.73-9741A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116247446 | ||||||
| chr12:116247567
|
C | T | 1 | a0001c0001t0003g0006 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.73-9862G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116247567 | ||||||
| chr12:116247689
|
G | GTA | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.73-9986_73-9985dup others(2): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116247689 | ||||||
| chr12:116247700
|
T | C | 8 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(5): Show | 8 | HG02559.hp1 HG02615.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.73-9995A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116247700 | ||||||
| chr12:116247718
|
T | C | 1 | a0001c0001t0001g0125 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.73-10013A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116247718 | ||||||
| chr12:116248312
|
C | G | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.73-10607G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116248312 | ||||||
| chr12:116248433
|
T | A | 1 | a0001c0001t0003g0006 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.73-10728A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116248433 | ||||||
| chr12:116248558
|
A | G | 2 | a0001c0002t0002g0049a0001c0002t0009g0030 | 2 | NA19060.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.73-10853T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116248558 | ||||||
| chr12:116249010
|
A | G | 1 | a0001c0002t0011g0124 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.73-11305T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116249010 | ||||||
| chr12:116249018
|
T | C | 1 | a0001c0001t0004g0207 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.73-11313A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116249018 | ||||||
| chr12:116249023
|
A | T | 1 | a0001c0002t0002g0198 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.73-11318T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116249023 | ||||||
| chr12:116249253
|
A | G | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.73-11548T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116249253 | ||||||
| chr12:116249278
|
A | C | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.73-11573T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116249278 | ||||||
| chr12:116249734
|
C | CA | 13 | a0001c0001t0001g0045a0001c0001t0001g0087a0001c0001t0001g0153others(10): Show | 13 | HG00423.hp2 HG00621.hp2 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.73-12030dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116249734 | ||||||
| chr12:116249734
|
CA | C | 118 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0052others(115): Show | 118 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(115): Show |
intron_variant | MODIFIER | c.73-12030delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116249734 | ||||||
| chr12:116249734
|
CAA | C | 8 | a0001c0001t0001g0069a0001c0001t0001g0170a0001c0001t0001g0215others(5): Show | 8 | HG00438.hp2 HG00673.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.73-12031_73-12030d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116249734 | ||||||
| chr12:116249734
|
CAAAAAAA others(3): Show |
C | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.73-12039_73-12030d others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116249734 | ||||||
| chr12:116249898
|
G | A | 2 | a0001c0001t0001g0102a0001c0001t0001g0112 | 2 | HG00733.hp1 HG01123.hp1 |
intron_variant | MODIFIER | c.73-12193C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116249898 | ||||||
| chr12:116250025
|
T | TA | 68 | a0001c0001t0001g0032a0001c0001t0001g0043a0001c0001t0001g0089others(65): Show | 68 | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(65): Show |
intron_variant | MODIFIER | c.73-12321dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116250025 | ||||||
| chr12:116250025
|
T | TAA | 5 | a0001c0001t0001g0102a0001c0001t0001g0105a0001c0001t0001g0226others(2): Show | 5 | HG00733.hp1 HG02258.hp1 HG03942.hp1 others(2): Show |
intron_variant | MODIFIER | c.73-12322_73-12321d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116250025 | ||||||
| chr12:116250025
|
TA | T | 25 | a0001c0001t0001g0035a0001c0001t0001g0064a0001c0001t0001g0117others(22): Show | 25 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(22): Show |
intron_variant | MODIFIER | c.73-12321delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116250025 | ||||||
| chr12:116250025
|
TAAAAAAA others(4): Show |
T | 1 | a0001c0002t0009g0030 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.73-12331_73-12321d others(13): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116250025 | ||||||
| chr12:116250237
|
C | T | 65 | a0001c0001t0001g0044a0001c0001t0001g0113a0001c0001t0001g0137others(62): Show | 65 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(62): Show |
intron_variant | MODIFIER | c.73-12532G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116250237 | ||||||
| chr12:116250289
|
AAATACAG others(2): Show |
A | 65 | a0001c0001t0001g0044a0001c0001t0001g0113a0001c0001t0001g0137others(62): Show | 65 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(62): Show |
intron_variant | MODIFIER | c.73-12593_73-12585d others(11): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116250289 | ||||||
| chr12:116250490
|
A | G | 234 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(231): Show | 234 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(231): Show |
intron_variant | MODIFIER | c.73-12785T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116250490 | ||||||
| chr12:116250581
|
T | C | 1 | a0001c0002t0002g0080 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.73-12876A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116250581 | ||||||
| chr12:116250609
|
C | CA | 7 | a0001c0001t0001g0041a0001c0001t0001g0196a0001c0001t0003g0026others(4): Show | 7 | HG01358.hp1 HG01978.hp1 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.73-12905dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116250609 | ||||||
| chr12:116250609
|
CA | C | 14 | a0001c0001t0001g0082a0001c0001t0001g0172a0001c0001t0001g0190others(11): Show | 14 | HG01255.hp2 HG01943.hp1 HG01981.hp2 others(11): Show |
intron_variant | MODIFIER | c.73-12905delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116250609 | ||||||
| chr12:116250641
|
G | A | 3 | a0001c0002t0002g0039a0001c0002t0002g0060a0001c0002t0002g0116 | 3 | NA18957.hp2 NA18963.hp2 NA19087.hp1 |
intron_variant | MODIFIER | c.73-12936C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116250641 | ||||||
| chr12:116250776
|
C | CA | 30 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(27): Show | 30 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(27): Show |
intron_variant | MODIFIER | c.73-13072dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116250776 | ||||||
| chr12:116250776
|
CA | C | 18 | a0001c0001t0001g0087a0001c0001t0001g0100a0001c0001t0001g0162others(15): Show | 18 | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.73-13072delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116250776 | ||||||
| chr12:116250776
|
CAA | C | 52 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(49): Show | 52 | HG00140.hp2 HG00558.hp1 HG00621.hp2 others(49): Show |
intron_variant | MODIFIER | c.73-13073_73-13072d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116250776 | ||||||
| chr12:116250776
|
CAAA | C | 5 | a0001c0002t0002g0073a0001c0002t0002g0084a0001c0002t0002g0177others(2): Show | 5 | HG00323.hp2 HG03516.hp1 NA18965.hp2 others(2): Show |
intron_variant | MODIFIER | c.73-13074_73-13072d others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116250776 | ||||||
| chr12:116250800
|
T | A | 1 | a0001c0001t0001g0136 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.73-13095A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116250800 | ||||||
| chr12:116251308
|
C | CT | 54 | a0001c0001t0001g0044a0001c0001t0001g0070a0001c0001t0001g0090others(51): Show | 54 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(51): Show |
intron_variant | MODIFIER | c.73-13604dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116251308 | ||||||
| chr12:116251308
|
C | CTT | 18 | a0001c0001t0001g0043a0001c0001t0001g0113a0001c0001t0001g0125others(15): Show | 18 | HG00423.hp1 HG00642.hp2 HG01261.hp2 others(15): Show |
intron_variant | MODIFIER | c.73-13605_73-13604d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116251308 | ||||||
| chr12:116251308
|
CT | C | 11 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0171others(8): Show | 11 | HG00597.hp2 HG02109.hp2 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.73-13604delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116251308 | ||||||
| chr12:116251308
|
CTT | C | 10 | a0001c0001t0001g0032a0001c0001t0001g0102a0001c0001t0001g0103others(7): Show | 10 | HG00544.hp2 HG00733.hp1 HG01123.hp1 others(7): Show |
intron_variant | MODIFIER | c.73-13605_73-13604d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116251308 | ||||||
| chr12:116251308
|
CTTTTTTT others(3): Show |
C | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.73-13613_73-13604d others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116251308 | ||||||
| chr12:116251335
|
G | C | 1 | a0001c0001t0005g0184 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.73-13630C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116251335 | ||||||
| chr12:116251405
|
C | T | 37 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(34): Show | 37 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(34): Show |
intron_variant | MODIFIER | c.73-13700G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116251405 | ||||||
| chr12:116251436
|
A | T | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.73-13731T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116251436 | ||||||
| chr12:116251438
|
G | T | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.73-13733C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116251438 | ||||||
| chr12:116251439
|
C | A | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.73-13734G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116251439 | ||||||
| chr12:116251441
|
TGAGGGAT others(3334): Show |
T | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.73-17077_73-13737d others(2): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116251441 | ||||||
| chr12:116251884
|
A | C | 1 | a0001c0002t0002g0047 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.73-14179T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116251884 | ||||||
| chr12:116252492
|
T | C | 2 | a0001c0002t0002g0081a0001c0002t0002g0199 | 2 | NA19005.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.73-14787A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116252492 | ||||||
| chr12:116252612
|
T | C | 37 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(34): Show | 37 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(34): Show |
intron_variant | MODIFIER | c.73-14907A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116252612 | ||||||
| chr12:116252805
|
A | T | 21 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(18): Show | 21 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(18): Show |
intron_variant | MODIFIER | c.73-15100T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116252805 | ||||||
| chr12:116252866
|
C | T | 12 | a0001c0001t0001g0043a0001c0001t0001g0123a0001c0001t0001g0125others(9): Show | 12 | HG00408.hp2 HG00423.hp1 HG03927.hp1 others(9): Show |
intron_variant | MODIFIER | c.73-15161G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116252866 | ||||||
| chr12:116253072
|
G | A | 1 | a0001c0001t0008g0005 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.73-15367C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116253072 | ||||||
| chr12:116253081
|
G | A | 11 | a0001c0001t0001g0179a0001c0001t0001g0220a0001c0001t0001g0221others(8): Show | 11 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(8): Show |
intron_variant | MODIFIER | c.73-15376C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116253081 | ||||||
| chr12:116253272
|
CA | C | 214 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(211): Show | 214 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(211): Show |
intron_variant | MODIFIER | c.73-15568delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116253272 | ||||||
| chr12:116253489
|
G | T | 5 | a0001c0001t0005g0184a0001c0003t0001g0164a0001c0003t0001g0185others(2): Show | 5 | HG02145.hp2 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.73-15784C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116253489 | ||||||
| chr12:116253554
|
T | C | 21 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(18): Show | 21 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(18): Show |
intron_variant | MODIFIER | c.73-15849A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116253554 | ||||||
| chr12:116253683
|
C | G | 1 | a0001c0002t0002g0058 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.73-15978G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116253683 | ||||||
| chr12:116253752
|
T | C | 8 | a0001c0001t0005g0184a0001c0003t0001g0126a0001c0003t0001g0127others(5): Show | 8 | HG02145.hp2 HG02486.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.73-16047A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116253752 | ||||||
| chr12:116253753
|
G | GT | 68 | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0069others(65): Show | 68 | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(65): Show |
intron_variant | MODIFIER | c.73-16049dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116253753 | ||||||
| chr12:116253753
|
G | T | 2 | a0001c0002t0002g0175a0001c0002t0002g0197 | 2 | HG03492.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.73-16048C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116253753 | ||||||
| chr12:116253753
|
GT | G | 42 | a0001c0001t0001g0035a0001c0001t0001g0103a0001c0001t0001g0108others(39): Show | 42 | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(39): Show |
intron_variant | MODIFIER | c.73-16049delA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116253753 | ||||||
| chr12:116253753
|
GTT | G | 19 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(16): Show | 19 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(16): Show |
intron_variant | MODIFIER | c.73-16050_73-16049d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116253753 | ||||||
| chr12:116253763
|
T | G | 1 | a0001c0002t0002g0077 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.73-16058A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116253763 | ||||||
| chr12:116253766
|
T | G | 2 | a0001c0001t0001g0087a0001c0001t0001g0236 | 2 | HG03239.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.73-16061A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116253766 | ||||||
| chr12:116253767
|
T | G | 1 | a0001c0001t0001g0238 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.73-16062A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116253767 | ||||||
| chr12:116253815
|
A | G | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.73-16110T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116253815 | ||||||
| chr12:116254479
|
T | C | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.73-16774A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116254479 | ||||||
| chr12:116254498
|
T | C | 1 | a0001c0002t0002g0076 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.73-16793A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116254498 | ||||||
| chr12:116254539
|
A | G | 2 | a0001c0001t0001g0228a0001c0001t0003g0011 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.73-16834T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116254539 | ||||||
| chr12:116254559
|
G | C | 1 | a0001c0001t0001g0044 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.73-16854C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116254559 | ||||||
| chr12:116254874
|
C | T | 2 | a0001c0001t0001g0101a0001c0001t0003g0003 | 2 | HG02486.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.73-17169G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116254874 | ||||||
| chr12:116254953
|
G | T | 3 | a0001c0001t0001g0052a0001c0001t0001g0160a0006c0019t0001g0099 | 3 | HG02015.hp1 NA18992.hp2 NA19087.hp2 |
intron_variant | MODIFIER | c.73-17248C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116254953 | ||||||
| chr12:116255151
|
C | T | 5 | a0001c0002t0002g0054a0001c0002t0002g0058a0001c0002t0002g0061others(2): Show | 5 | HG01981.hp1 HG02293.hp1 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.73-17446G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116255151 | ||||||
| chr12:116255240
|
G | C | 130 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0043others(127): Show | 130 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(127): Show |
intron_variant | MODIFIER | c.73-17535C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116255240 | ||||||
| chr12:116255525
|
T | C | 1 | a0001c0001t0017g0254 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.73-17820A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116255525 | ||||||
| chr12:116255550
|
A | G | 23 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(20): Show | 23 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(20): Show |
intron_variant | MODIFIER | c.73-17845T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116255550 | ||||||
| chr12:116255596
|
G | A | 2 | a0001c0002t0002g0049a0001c0002t0009g0030 | 2 | NA19060.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.73-17891C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116255596 | ||||||
| chr12:116255888
|
A | G | 1 | a0001c0002t0002g0058 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.73-18183T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116255888 | ||||||
| chr12:116256003
|
A | G | 1 | a0001c0001t0001g0134 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.73-18298T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116256003 | ||||||
| chr12:116256058
|
A | G | 1 | a0001c0008t0003g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.73-18353T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116256058 | ||||||
| chr12:116256268
|
C | T | 1 | a0001c0001t0001g0245 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.73-18563G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116256268 | ||||||
| chr12:116256290
|
C | CA | 13 | a0001c0001t0001g0103a0001c0001t0001g0122a0001c0001t0001g0223others(10): Show | 13 | HG00544.hp2 HG00642.hp2 HG00741.hp2 others(10): Show |
intron_variant | MODIFIER | c.73-18586dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116256290 | ||||||
| chr12:116256414
|
G | A | 85 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(82): Show | 85 | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(82): Show |
intron_variant | MODIFIER | c.73-18709C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116256414 | ||||||
| chr12:116256495
|
T | G | 1 | a0001c0001t0007g0002 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.73-18790A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116256495 | ||||||
| chr12:116256634
|
T | C | 1 | a0001c0002t0002g0080 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.73-18929A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116256634 | ||||||
| chr12:116256682
|
C | CT | 197 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(194): Show | 197 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(194): Show |
intron_variant | MODIFIER | c.73-18978dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116256682 | ||||||
| chr12:116256682
|
C | CTT | 21 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(18): Show | 21 | HG00280.hp2 HG00741.hp1 HG00741.hp2 others(18): Show |
intron_variant | MODIFIER | c.73-18979_73-18978d others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116256682 | ||||||
| chr12:116256814
|
T | C | 1 | a0001c0002t0002g0078 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.73-19109A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116256814 | ||||||
| chr12:116256972
|
G | A | 9 | a0001c0002t0002g0039a0001c0002t0002g0048a0001c0002t0002g0059others(6): Show | 9 | NA18950.hp1 NA18957.hp2 NA18963.hp2 others(6): Show |
intron_variant | MODIFIER | c.73-19267C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116256972 | ||||||
| chr12:116257010
|
T | C | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.73-19305A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116257010 | ||||||
| chr12:116257046
|
G | A | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.73-19341C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116257046 | ||||||
| chr12:116257082
|
T | C | 1 | a0001c0001t0006g0013 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.73-19377A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116257082 | ||||||
| chr12:116257243
|
G | A | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.73-19538C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116257243 | ||||||
| chr12:116257396
|
T | C | 1 | a0001c0002t0002g0062 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.72+19664A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116257396 | ||||||
| chr12:116257485
|
G | C | 2 | a0001c0001t0001g0163a0001c0001t0001g0208 | 2 | HG02630.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.72+19575C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116257485 | ||||||
| chr12:116257969
|
A | T | 8 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(5): Show | 8 | HG00280.hp2 HG00741.hp2 HG02083.hp1 others(5): Show |
intron_variant | MODIFIER | c.72+19091T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116257969 | ||||||
| chr12:116258052
|
A | T | 1 | a0001c0001t0001g0102 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.72+19008T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116258052 | ||||||
| chr12:116258090
|
G | A | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.72+18970C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116258090 | ||||||
| chr12:116258127
|
G | A | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.72+18933C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116258127 | ||||||
| chr12:116258243
|
A | G | 2 | a0001c0017t0001g0249a0005c0018t0001g0217 | 2 | HG01123.hp2 NA18948.hp2 |
intron_variant | MODIFIER | c.72+18817T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116258243 | ||||||
| chr12:116258449
|
C | A | 1 | a0001c0001t0001g0223 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.72+18611G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116258449 | ||||||
| chr12:116258552
|
G | A | 1 | a0001c0001t0001g0071 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.72+18508C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116258552 | ||||||
| chr12:116258777
|
G | GA | 11 | a0001c0001t0001g0045a0001c0001t0001g0091a0001c0001t0001g0221others(8): Show | 11 | HG01358.hp2 HG02074.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.72+18282dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116258777 | ||||||
| chr12:116258777
|
GA | G | 44 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0064others(41): Show | 44 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(41): Show |
intron_variant | MODIFIER | c.72+18282delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116258777 | ||||||
| chr12:116258918
|
G | GT | 14 | a0001c0001t0001g0071a0001c0001t0001g0195a0001c0001t0003g0018others(11): Show | 14 | HG00140.hp2 HG00597.hp1 HG00642.hp1 others(11): Show |
intron_variant | MODIFIER | c.72+18141dupA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116258918 | ||||||
| chr12:116258918
|
G | T | 1 | a0001c0002t0002g0178 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.72+18142C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116258918 | ||||||
| chr12:116259111
|
C | T | 1 | a0001c0008t0003g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.72+17949G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116259111 | ||||||
| chr12:116259586
|
G | A | 1 | a0001c0001t0001g0251 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.72+17474C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116259586 | ||||||
| chr12:116259855
|
A | C | 2 | a0001c0004t0001g0181a0001c0004t0001g0182 | 2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.72+17205T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116259855 | ||||||
| chr12:116259933
|
TAGTG | T | 17 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(14): Show | 17 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(14): Show |
intron_variant | MODIFIER | c.72+17123_72+17126d others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116259933 | ||||||
| chr12:116260011
|
CAGA | C | 23 | a0001c0001t0001g0087a0001c0001t0001g0158a0001c0001t0001g0159others(20): Show | 23 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(20): Show |
intron_variant | MODIFIER | c.72+17046_72+17048d others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116260011 | ||||||
| chr12:116260019
|
G | T | 1 | a0001c0001t0005g0144 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.72+17041C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116260019 | ||||||
| chr12:116260064
|
A | G | 37 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(34): Show | 37 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(34): Show |
intron_variant | MODIFIER | c.72+16996T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116260064 | ||||||
| chr12:116260126
|
G | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.72+16934C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116260126 | ||||||
| chr12:116260145
|
G | C | 1 | a0001c0003t0001g0250 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.72+16915C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116260145 | ||||||
| chr12:116260358
|
C | G | 1 | a0001c0001t0004g0209 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.72+16702G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116260358 | ||||||
| chr12:116260575
|
A | T | 1 | a0001c0003t0001g0126 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.72+16485T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116260575 | ||||||
| chr12:116260591
|
C | T | 1 | a0001c0001t0001g0222 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.72+16469G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116260591 | ||||||
| chr12:116260604
|
T | C | 10 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(7): Show | 10 | HG00280.hp2 HG00741.hp2 HG01168.hp1 others(7): Show |
intron_variant | MODIFIER | c.72+16456A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116260604 | ||||||
| chr12:116260801
|
G | C | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.72+16259C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116260801 | ||||||
| chr12:116260920
|
C | T | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.72+16140G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116260920 | ||||||
| chr12:116261492
|
C | CA | 5 | a0001c0001t0001g0089a0001c0001t0001g0228a0001c0001t0003g0011others(2): Show | 5 | HG02145.hp1 HG02145.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.72+15567dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116261492 | ||||||
| chr12:116261870
|
T | C | 55 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(52): Show | 55 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(52): Show |
intron_variant | MODIFIER | c.72+15190A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116261870 | ||||||
| chr12:116261874
|
C | A | 4 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(1): Show | 4 | HG02559.hp1 HG02615.hp1 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.72+15186G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116261874 | ||||||
| chr12:116261878
|
C | T | 1 | a0001c0001t0003g0006 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.72+15182G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116261878 | ||||||
| chr12:116261879
|
G | A | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.72+15181C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116261879 | ||||||
| chr12:116261937
|
A | G | 8 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(5): Show | 8 | HG00280.hp2 HG00741.hp2 HG02083.hp1 others(5): Show |
intron_variant | MODIFIER | c.72+15123T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116261937 | ||||||
| chr12:116262026
|
G | A | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.72+15034C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116262026 | ||||||
| chr12:116262077
|
T | C | 1 | a0001c0001t0001g0064 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.72+14983A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116262077 | ||||||
| chr12:116262145
|
T | A | 1 | a0001c0002t0002g0119 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.72+14915A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116262145 | ||||||
| chr12:116262504
|
G | A | 1 | a0001c0001t0004g0040 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.72+14556C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116262504 | ||||||
| chr12:116262627
|
C | T | 2 | a0001c0001t0001g0134a0001c0001t0001g0171 | 2 | HG02257.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.72+14433G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116262627 | ||||||
| chr12:116262749
|
G | A | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.72+14311C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116262749 | ||||||
| chr12:116262953
|
T | C | 1 | a0001c0002t0002g0077 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.72+14107A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116262953 | ||||||
| chr12:116263267
|
T | TA | 23 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(20): Show | 23 | HG00544.hp2 HG00733.hp1 HG01123.hp1 others(20): Show |
intron_variant | MODIFIER | c.72+13792dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116263267 | ||||||
| chr12:116263336
|
T | C | 5 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097others(2): Show | 5 | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.72+13724A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116263336 | ||||||
| chr12:116263552
|
A | G | 1 | a0001c0001t0001g0069 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.72+13508T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116263552 | ||||||
| chr12:116263738
|
T | A | 1 | a0001c0001t0003g0014 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.72+13322A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116263738 | ||||||
| chr12:116264003
|
C | A | 1 | a0001c0001t0005g0042 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.72+13057G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116264003 | ||||||
| chr12:116264082
|
A | G | 12 | a0001c0001t0001g0082a0001c0001t0001g0172a0001c0001t0001g0190others(9): Show | 12 | HG01255.hp2 HG01943.hp1 HG01981.hp2 others(9): Show |
intron_variant | MODIFIER | c.72+12978T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116264082 | ||||||
| chr12:116264113
|
G | C | 4 | a0001c0001t0005g0184a0001c0003t0001g0164a0001c0003t0001g0185others(1): Show | 4 | HG02145.hp2 HG02895.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.72+12947C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116264113 | ||||||
| chr12:116264271
|
C | A | 2 | a0001c0002t0002g0083a0001c0002t0006g0010 | 2 | NA18949.hp1 NA18981.hp2 |
intron_variant | MODIFIER | c.72+12789G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116264271 | ||||||
| chr12:116264701
|
T | C | 11 | a0001c0001t0001g0243a0001c0001t0008g0005a0001c0004t0001g0067others(8): Show | 11 | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(8): Show |
intron_variant | MODIFIER | c.72+12359A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116264701 | ||||||
| chr12:116264788
|
C | T | 2 | a0001c0006t0002g0036a0001c0006t0002g0037 | 2 | HG00639.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.72+12272G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116264788 | ||||||
| chr12:116264831
|
T | A | 2 | a0001c0001t0001g0102a0001c0001t0001g0112 | 2 | HG00733.hp1 HG01123.hp1 |
intron_variant | MODIFIER | c.72+12229A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116264831 | ||||||
| chr12:116265085
|
C | G | 1 | a0005c0018t0001g0217 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.72+11975G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116265085 | ||||||
| chr12:116265182
|
T | C | 1 | a0001c0008t0003g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.72+11878A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116265182 | ||||||
| chr12:116265578
|
T | C | 1 | a0001c0001t0004g0209 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.72+11482A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116265578 | ||||||
| chr12:116265994
|
G | T | 1 | a0008c0011t0002g0132 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.72+11066C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116265994 | ||||||
| chr12:116266126
|
C | T | 1 | a0001c0002t0011g0124 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.72+10934G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116266126 | ||||||
| chr12:116266127
|
G | A | 2 | a0001c0001t0001g0231a0001c0001t0001g0248 | 2 | NA18966.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.72+10933C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116266127 | ||||||
| chr12:116266380
|
C | A | 1 | a0001c0003t0001g0185 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.72+10680G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116266380 | ||||||
| chr12:116266976
|
T | G | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.72+10084A>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116266976 | ||||||
| chr12:116267054
|
G | C | 3 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097 | 3 | HG02717.hp2 HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.72+10006C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116267054 | ||||||
| chr12:116267515
|
G | A | 1 | a0001c0001t0003g0017 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.72+9545C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116267515 | ||||||
| chr12:116267559
|
C | A | 1 | a0001c0003t0012g0110 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.72+9501G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116267559 | ||||||
| chr12:116267799
|
T | C | 37 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(34): Show | 37 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(34): Show |
intron_variant | MODIFIER | c.72+9261A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116267799 | ||||||
| chr12:116268153
|
G | A | 1 | a0001c0002t0002g0084 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.72+8907C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116268153 | ||||||
| chr12:116268173
|
T | C | 1 | a0001c0001t0001g0092 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.72+8887A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116268173 | ||||||
| chr12:116268188
|
AG | A | 20 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0102others(17): Show | 20 | HG00544.hp2 HG00733.hp1 HG01123.hp1 others(17): Show |
intron_variant | MODIFIER | c.72+8871delC | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116268188 | ||||||
| chr12:116268231
|
T | C | 4 | a0001c0002t0002g0039a0001c0002t0002g0060a0001c0002t0002g0080others(1): Show | 4 | NA18957.hp2 NA18963.hp2 NA19087.hp1 others(1): Show |
intron_variant | MODIFIER | c.72+8829A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116268231 | ||||||
| chr12:116268292
|
T | A | 1 | a0001c0001t0017g0254 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.72+8768A>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116268292 | ||||||
| chr12:116268315
|
A | C | 37 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(34): Show | 37 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(34): Show |
intron_variant | MODIFIER | c.72+8745T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116268315 | ||||||
| chr12:116268602
|
T | C | 2 | a0001c0001t0001g0228a0001c0001t0003g0011 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.72+8458A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116268602 | ||||||
| chr12:116268631
|
C | CA | 5 | a0001c0001t0001g0228a0001c0001t0003g0018a0001c0001t0017g0254others(2): Show | 5 | HG01516.hp2 HG02809.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.72+8428dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116268631 | ||||||
| chr12:116268932
|
A | G | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.72+8128T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116268932 | ||||||
| chr12:116269008
|
G | T | 1 | a0001c0021t0001g0131 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.72+8052C>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116269008 | ||||||
| chr12:116269317
|
A | G | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.72+7743T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116269317 | ||||||
| chr12:116269466
|
C | CA | 51 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(48): Show | 51 | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(48): Show |
intron_variant | MODIFIER | c.72+7593dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116269466 | ||||||
| chr12:116269466
|
CA | C | 60 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0165others(57): Show | 60 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(57): Show |
intron_variant | MODIFIER | c.72+7593delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116269466 | ||||||
| chr12:116269466
|
CAAAAAA | C | 11 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(8): Show | 11 | HG00280.hp2 HG00741.hp2 HG01168.hp1 others(8): Show |
intron_variant | MODIFIER | c.72+7588_72+7593del others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116269466 | ||||||
| chr12:116269538
|
T | C | 1 | a0001c0002t0002g0048 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.72+7522A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116269538 | ||||||
| chr12:116269721
|
T | C | 3 | a0001c0003t0001g0126a0001c0003t0001g0127a0001c0003t0001g0250 | 3 | HG03130.hp2 HG03453.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.72+7339A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116269721 | ||||||
| chr12:116269986
|
T | C | 1 | a0001c0001t0003g0004 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.72+7074A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116269986 | ||||||
| chr12:116270001
|
T | C | 9 | a0001c0002t0002g0039a0001c0002t0002g0048a0001c0002t0002g0059others(6): Show | 9 | NA18950.hp1 NA18957.hp2 NA18963.hp2 others(6): Show |
intron_variant | MODIFIER | c.72+7059A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116270001 | ||||||
| chr12:116270085
|
C | T | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.72+6975G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116270085 | ||||||
| chr12:116270166
|
A | T | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.72+6894T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116270166 | ||||||
| chr12:116270181
|
C | T | 2 | a0001c0002t0002g0054a0001c0002t0002g0061 | 2 | HG01981.hp1 HG02293.hp1 |
intron_variant | MODIFIER | c.72+6879G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116270181 | ||||||
| chr12:116270286
|
C | T | 1 | a0001c0001t0001g0165 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.72+6774G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116270286 | ||||||
| chr12:116270585
|
T | C | 1 | a0001c0014t0002g0079 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.72+6475A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116270585 | ||||||
| chr12:116270924
|
C | G | 3 | a0001c0001t0001g0220a0001c0001t0001g0221a0001c0001t0003g0012 | 3 | HG00544.hp1 HG02071.hp2 HG02074.hp1 |
intron_variant | MODIFIER | c.72+6136G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116270924 | ||||||
| chr12:116271024
|
G | C | 37 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(34): Show | 37 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(34): Show |
intron_variant | MODIFIER | c.72+6036C>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271024 | ||||||
| chr12:116271040
|
C | CA | 45 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(42): Show | 45 | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(42): Show |
intron_variant | MODIFIER | c.72+6019dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271040 | ||||||
| chr12:116271040
|
C | CAA | 8 | a0001c0001t0001g0134a0001c0001t0001g0169a0001c0001t0001g0243others(5): Show | 8 | HG00323.hp1 HG00735.hp2 HG01255.hp1 others(5): Show |
intron_variant | MODIFIER | c.72+6018_72+6019dup others(2): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271040 | ||||||
| chr12:116271040
|
C | CAAAA | 27 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0069others(24): Show | 27 | HG00438.hp2 HG00621.hp1 HG00673.hp1 others(24): Show |
intron_variant | MODIFIER | c.72+6016_72+6019dup others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271040 | ||||||
| chr12:116271040
|
C | CAAAAA | 8 | a0001c0001t0001g0070a0001c0001t0001g0160a0001c0001t0001g0172others(5): Show | 8 | HG00408.hp1 HG01123.hp2 HG01981.hp2 others(5): Show |
intron_variant | MODIFIER | c.72+6015_72+6019dup others(5): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271040 | ||||||
| chr12:116271040
|
C | CAAAAAA | 8 | a0001c0001t0001g0064a0001c0001t0001g0071a0001c0001t0001g0234others(5): Show | 8 | HG00558.hp2 HG00597.hp1 HG01175.hp1 others(5): Show |
intron_variant | MODIFIER | c.72+6014_72+6019dup others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271040 | ||||||
| chr12:116271040
|
CA | C | 46 | a0001c0001t0001g0101a0001c0002t0002g0038a0001c0002t0002g0039others(43): Show | 46 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(43): Show |
intron_variant | MODIFIER | c.72+6019delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271040 | ||||||
| chr12:116271040
|
CAAAAAAA others(8): Show |
C | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.72+6005_72+6019del others(15): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271040 | ||||||
| chr12:116271204
|
C | CGT | 7 | a0001c0001t0001g0034a0001c0001t0001g0115a0001c0001t0001g0117others(4): Show | 7 | HG01081.hp1 HG02451.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.72+5854_72+5855dup others(2): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271204 | ||||||
| chr12:116271328
|
CGCCTGTA others(965): Show |
C | 2 | a0001c0001t0001g0087a0001c0001t0001g0236 | 2 | HG03239.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.72+4760_72+5731del | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271328 | ||||||
| chr12:116271362
|
G | A | 1 | a0002c0007t0002g0088 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.72+5698C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271362 | ||||||
| chr12:116271394
|
T | C | 1 | a0001c0001t0001g0226 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.72+5666A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271394 | ||||||
| chr12:116271484
|
C | T | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.72+5576G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271484 | ||||||
| chr12:116271558
|
G | A | 1 | a0001c0001t0001g0121 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.72+5502C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271558 | ||||||
| chr12:116271634
|
A | T | 2 | a0001c0004t0001g0181a0001c0004t0001g0182 | 2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.72+5426T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271634 | ||||||
| chr12:116271750
|
C | G | 2 | a0001c0002t0002g0178a0001c0002t0011g0124 | 2 | HG00140.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.72+5310G>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271750 | ||||||
| chr12:116271995
|
C | T | 57 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(54): Show | 57 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.72+5065G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116271995 | ||||||
| chr12:116272856
|
A | T | 1 | a0001c0001t0003g0020 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.72+4204T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116272856 | ||||||
| chr12:116272937
|
T | C | 16 | a0001c0001t0001g0032a0001c0001t0001g0102a0001c0001t0001g0103others(13): Show | 16 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(13): Show |
intron_variant | MODIFIER | c.72+4123A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116272937 | ||||||
| chr12:116272975
|
G | A | 1 | a0001c0001t0001g0194 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.72+4085C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116272975 | ||||||
| chr12:116273122
|
T | C | 2 | a0001c0010t0001g0111a0008c0011t0002g0132 | 2 | HG03516.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.72+3938A>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116273122 | ||||||
| chr12:116273490
|
CA | C | 6 | a0001c0001t0001g0158a0001c0005t0001g0095a0001c0005t0001g0096others(3): Show | 6 | HG02717.hp1 HG02717.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.72+3569delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116273490 | ||||||
| chr12:116273567
|
GA | G | 52 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0046others(49): Show | 52 | HG00323.hp2 HG00558.hp1 HG00621.hp2 others(49): Show |
intron_variant | MODIFIER | c.72+3492delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116273567 | ||||||
| chr12:116273926
|
C | T | 1 | a0001c0001t0001g0204 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.72+3134G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116273926 | ||||||
| chr12:116274182
|
A | T | 37 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(34): Show | 37 | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(34): Show |
intron_variant | MODIFIER | c.72+2878T>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116274182 | ||||||
| chr12:116274215
|
C | T | 1 | a0001c0001t0001g0160 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.72+2845G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116274215 | ||||||
| chr12:116274414
|
A | C | 1 | a0001c0001t0001g0137 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.72+2646T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116274414 | ||||||
| chr12:116274424
|
C | A | 1 | a0001c0002t0002g0086 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.72+2636G>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116274424 | ||||||
| chr12:116274424
|
C | CA | 51 | a0001c0001t0001g0052a0001c0001t0001g0087a0001c0001t0001g0101others(48): Show | 51 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(48): Show |
intron_variant | MODIFIER | c.72+2635dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116274424 | ||||||
| chr12:116274429
|
A | C | 1 | a0001c0003t0001g0126 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.72+2631T>G | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116274429 | ||||||
| chr12:116274613
|
C | CA | 91 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(88): Show | 91 | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(88): Show |
intron_variant | MODIFIER | c.72+2446dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116274613 | ||||||
| chr12:116274821
|
C | T | 13 | a0001c0001t0001g0179a0001c0001t0001g0220a0001c0001t0001g0221others(10): Show | 13 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(10): Show |
intron_variant | MODIFIER | c.72+2239G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116274821 | ||||||
| chr12:116274839
|
C | T | 1 | a0001c0001t0001g0226 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.72+2221G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116274839 | ||||||
| chr12:116274991
|
T | TA | 11 | a0001c0001t0001g0179a0001c0001t0001g0220a0001c0001t0001g0221others(8): Show | 11 | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(8): Show |
intron_variant | MODIFIER | c.72+2068dupT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116274991 | ||||||
| chr12:116274991
|
TA | T | 25 | a0001c0001t0001g0064a0001c0001t0001g0089a0001c0001t0001g0090others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00733.hp1 others(22): Show |
intron_variant | MODIFIER | c.72+2068delT | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116274991 | ||||||
| chr12:116276308
|
T | TTG | 46 | a0001c0001t0001g0064a0001c0001t0001g0069a0001c0001t0001g0070others(43): Show | 46 | HG00408.hp1 HG00597.hp1 HG00642.hp1 others(43): Show |
intron_variant | MODIFIER | c.72+750_72+751dupCA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276308 | ||||||
| chr12:116276308
|
T | TTGTG | 37 | a0001c0001t0001g0082a0001c0001t0001g0090a0001c0001t0001g0091others(34): Show | 37 | HG00280.hp1 HG00323.hp2 HG00423.hp2 others(34): Show |
intron_variant | MODIFIER | c.72+748_72+751dupCA others(2): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276308 | ||||||
| chr12:116276308
|
T | TTGTGTG | 19 | a0001c0001t0001g0087a0001c0001t0001g0092a0001c0001t0001g0093others(16): Show | 19 | HG00140.hp1 HG00323.hp1 HG00558.hp2 others(16): Show |
intron_variant | MODIFIER | c.72+746_72+751dupCA others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276308 | ||||||
| chr12:116276308
|
T | TTGTGTGT others(1): Show |
9 | a0001c0001t0001g0100a0001c0001t0001g0243a0001c0001t0001g0245others(6): Show | 9 | HG00639.hp1 HG00735.hp2 HG01168.hp1 others(6): Show |
intron_variant | MODIFIER | c.72+744_72+751dupCA others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276308 | ||||||
| chr12:116276308
|
T | TTGTGTGT others(3): Show |
3 | a0001c0001t0001g0247a0001c0001t0001g0248a0001c0017t0001g0249 | 3 | HG00280.hp2 NA18948.hp2 NA18966.hp1 |
intron_variant | MODIFIER | c.72+742_72+751dupCA others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276308 | ||||||
| chr12:116276308
|
TTG | T | 53 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0044others(50): Show | 53 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(50): Show |
intron_variant | MODIFIER | c.72+750_72+751delCA | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276308 | ||||||
| chr12:116276308
|
TTGTG | T | 17 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0115others(14): Show | 17 | HG00140.hp2 HG00639.hp2 HG00642.hp2 others(14): Show |
intron_variant | MODIFIER | c.72+748_72+751delCA others(2): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276308 | ||||||
| chr12:116276308
|
TTGTGTG | T | 8 | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0003g0004others(5): Show | 8 | HG01123.hp1 HG02280.hp2 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.72+746_72+751delCA others(4): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276308 | ||||||
| chr12:116276308
|
TTGTGTGT others(1): Show |
T | 13 | a0001c0001t0001g0032a0001c0001t0001g0102a0001c0001t0001g0103others(10): Show | 13 | HG00544.hp2 HG00597.hp2 HG00733.hp1 others(10): Show |
intron_variant | MODIFIER | c.72+744_72+751delCA others(6): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276308 | ||||||
| chr12:116276308
|
TTGTGTGT others(3): Show |
T | 1 | a0001c0001t0001g0101 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.72+742_72+751delCA others(8): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276308 | ||||||
| chr12:116276308
|
TTGTGTGT others(7): Show |
T | 1 | a0001c0001t0003g0014 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.72+738_72+751delCA others(12): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276308 | ||||||
| chr12:116276337
|
TGTGTGTG others(9): Show |
T | 3 | a0001c0005t0001g0095a0001c0005t0001g0096a0001c0005t0001g0097 | 3 | HG02717.hp2 HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.72+707_72+722delGC others(14): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276337 | ||||||
| chr12:116276353
|
C | T | 3 | a0001c0001t0001g0100a0001c0005t0001g0098a0006c0019t0001g0099 | 3 | HG01168.hp1 HG03209.hp2 NA18992.hp2 |
intron_variant | MODIFIER | c.72+707G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276353 | ||||||
| chr12:116276389
|
A | G | 2 | a0001c0001t0002g0094a0001c0001t0006g0013 | 2 | HG01261.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.72+671T>C | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276389 | ||||||
| chr12:116276597
|
G | A | 1 | a0001c0003t0001g0250 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.72+463C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276597 | ||||||
| chr12:116276620
|
C | T | 5 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(2): Show | 5 | HG02083.hp1 HG02165.hp1 NA18955.hp2 others(2): Show |
intron_variant | MODIFIER | c.72+440G>A | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276620 | ||||||
| chr12:116276941
|
G | A | 1 | a0001c0001t0001g0251 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.72+119C>T | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116276941 | ||||||
| chr12:116277010
|
A | AC | 72 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0035others(69): Show | 72 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(69): Show |
intron_variant | MODIFIER | c.72+49dupG | MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | 116277010 |