Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 10025 |
| ensemblid | ENSG00000175221.16 |
| hgncid | 17556 |
| symbol | MED16 |
| name | mediator complex subunit 16 |
| refseq_nuc | NM_005481.3 |
| refseq_prot | NP_005472.2 |
| ensembl_nuc | ENST00000325464.6 |
| ensembl_prot | ENSP00000325612.1 |
| mane_status | MANE Select |
| chr | chr19 |
| start | 867963 |
| end | 893187 |
| strand | - |
| ver | v1.2 |
| region | chr19:867963-893187 |
| region5000 | chr19:862963-898187 |
| regionname0 | MED16_chr19_867963_893187 |
| regionname5000 | MED16_chr19_862963_898187 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 877 | 36 | 8 | 7 | 13 | 0 | 6 | 11 | MED16_chr19_862963_898187 | MED16 | MCDLR others(872): Show |
chr19 | 862963 | 898187 |
| a0002 | 0/0 | 877 | 13 | 9 | 1 | 3 | 0 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | MCDLR others(872): Show |
chr19 | 862963 | 898187 |
| a0003 | 0/0 | 836 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | MCDLR others(831): Show |
chr19 | 862963 | 898187 |
| a0004 | 0/0 | 877 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | MCDLR others(872): Show |
chr19 | 862963 | 898187 |
| a0005 | 0/0 | 877 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | MCDLR others(872): Show |
chr19 | 862963 | 898187 |
| a0006 | 0/0 | 877 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | MCDLR others(872): Show |
chr19 | 862963 | 898187 |
| a0007 | 0/0 | 877 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | MED16_chr19_862963_898187 | MED16 | MCDLR others(872): Show |
chr19 | 862963 | 898187 |
| a0008 | 0/0 | 877 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | MCDLR others(872): Show |
chr19 | 862963 | 898187 |
| a0009 | 0/0 | 877 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | MED16_chr19_862963_898187 | MED16 | MCDLR others(872): Show |
chr19 | 862963 | 898187 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/0 | 2631 | 15 | 3 | 6 | 4 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0001c0002 | 0/0 | 2631 | 10 | 0 | 1 | 6 | 0 | 3 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0001c0004 | 0/0 | 2631 | 2 | 0 | 0 | 1 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0001c0005 | 0/0 | 2631 | 2 | 0 | 0 | 2 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0001c0006 | 0/0 | 2631 | 2 | 2 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0001c0013 | 0/0 | 2631 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0001c0014 | 0/0 | 2631 | 1 | 0 | 0 | 0 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0001c0015 | 0/0 | 2631 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0001c0016 | 0/1 | 2631 | 1 | 0 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0001c0017 | 0/0 | 2631 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0002c0003 | 0/0 | 2631 | 6 | 4 | 1 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0002c0007 | 0/0 | 2631 | 2 | 1 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0002c0008 | 0/0 | 2631 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0002c0012 | 0/0 | 2631 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0002c0020 | 0/0 | 2631 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0002c0022 | 0/0 | 2631 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0002c0023 | 0/0 | 2631 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0003c0010 | 0/0 | 2650 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2645): Show |
chr19 | 862963 | 898187 | ||
| a0004c0019 | 0/0 | 2631 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0005c0021 | 0/0 | 2631 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0006c0011 | 0/0 | 2631 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0007c0009 | 0/0 | 2631 | 1 | 0 | 0 | 0 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0008c0018 | 0/0 | 2631 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 | ||
| a0009c0024 | 0/0 | 2631 | 1 | 0 | 0 | 0 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | ATGTG others(2626): Show |
chr19 | 862963 | 898187 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 2892 | 13 | 2 | 6 | 3 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0001c0001t0002 | 0/0 | 2892 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0001c0001t0008 | 0/0 | 2892 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0001c0002t0001 | 0/0 | 2892 | 8 | 0 | 0 | 5 | 0 | 3 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0001c0002t0002 | 0/0 | 2892 | 2 | 0 | 1 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0001c0004t0001 | 0/0 | 2892 | 2 | 0 | 0 | 1 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0001c0005t0001 | 0/0 | 2892 | 2 | 0 | 0 | 2 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0001c0006t0001 | 0/0 | 2892 | 2 | 2 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0001c0013t0001 | 0/0 | 2892 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0001c0014t0003 | 0/0 | 2892 | 1 | 0 | 0 | 0 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | AGGCA others(2887): Show |
chr19 | 862963 | 898187 |
| a0001c0015t0001 | 0/0 | 2892 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0001c0016t0004 | 0/1 | 2892 | 1 | 0 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0001c0017t0001 | 0/0 | 2892 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0002c0003t0001 | 0/0 | 2892 | 6 | 4 | 1 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0002c0007t0001 | 0/0 | 2892 | 2 | 1 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0002c0008t0001 | 0/0 | 2892 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0002c0012t0005 | 0/0 | 2892 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0002c0020t0001 | 0/0 | 2892 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0002c0022t0001 | 0/0 | 2892 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0002c0023t0001 | 0/0 | 2892 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0003c0010t0001 | 0/0 | 2911 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2906): Show |
chr19 | 862963 | 898187 |
| a0004c0019t0001 | 0/0 | 2892 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0005c0021t0001 | 0/0 | 2892 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0006c0011t0001 | 0/0 | 2892 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0007c0009t0007 | 0/0 | 2892 | 1 | 0 | 0 | 0 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0008c0018t0006 | 0/0 | 2892 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | AGGCG others(2887): Show |
chr19 | 862963 | 898187 |
| a0009c0024t0003 | 0/0 | 2892 | 1 | 0 | 0 | 0 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | AGGCA others(2887): Show |
chr19 | 862963 | 898187 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0001t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0001t0001g0044 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0001t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0001t0002g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0001t0008g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0002t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0002t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0002t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0002t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0002t0001g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0002t0001g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0002t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0002t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0002t0002g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0002t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0004t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0004t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0005t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0005t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0006t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0006t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0013t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0014t0003g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0015t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0016t0004g0024 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0001c0017t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0002c0003t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0002c0003t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0002c0003t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0002c0003t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0002c0003t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0002c0003t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0002c0007t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0002c0007t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0002c0008t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0002c0012t0005g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0002c0020t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0002c0022t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0002c0023t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0003c0010t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0004c0019t0001g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0005c0021t0001g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0006c0011t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0007c0009t0007g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0008c0018t0006g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| a0009c0024t0003g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | CHS | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG00609 | hp2 | a0001 | c0005 | t0001 | g0041 | EAS | CHS | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG00673 | hp1 | a0002 | c0003 | t0001 | g0017 | EAS | CHS | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG00673 | hp2 | a0002 | c0008 | t0001 | g0018 | EAS | CHS | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG01070 | hp1 | a0002 | c0003 | t0001 | g0006 | AMR | PUR | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0032 | AMR | PUR | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG01099 | hp1 | a0003 | c0010 | t0001 | g0037 | AMR | PUR | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG01099 | hp2 | a0004 | c0019 | t0001 | g0016 | AMR | PUR | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0051 | AMR | CLM | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0040 | AMR | CLM | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0042 | AMR | CLM | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG01258 | hp2 | a0005 | c0021 | t0001 | g0004 | AMR | CLM | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG01978 | hp1 | a0006 | c0011 | t0001 | g0049 | AMR | PEL | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG01978 | hp2 | a0001 | c0002 | t0002 | g0020 | AMR | PEL | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0055 | AMR | PEL | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG02004 | hp2 | a0001 | c0001 | t0001 | g0045 | AMR | PEL | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0046 | AFR | ACB | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG02451 | hp2 | a0001 | c0017 | t0001 | g0003 | AFR | ACB | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG02735 | hp1 | a0007 | c0009 | t0007 | g0027 | SAS | PJL | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG02735 | hp2 | a0001 | c0014 | t0003 | g0002 | SAS | PJL | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG02809 | hp1 | a0002 | c0007 | t0001 | g0014 | AFR | GWD | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG02809 | hp2 | a0002 | c0003 | t0001 | g0007 | AFR | GWD | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG02818 | hp1 | a0008 | c0018 | t0006 | g0013 | AFR | GWD | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG02818 | hp2 | a0002 | c0022 | t0001 | g0011 | AFR | GWD | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG02886 | hp1 | a0002 | c0023 | t0001 | g0005 | AFR | GWD | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG02886 | hp2 | a0001 | c0015 | t0001 | g0030 | AFR | GWD | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG03239 | hp1 | a0001 | c0002 | t0001 | g0029 | SAS | PJL | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG03239 | hp2 | a0001 | c0004 | t0001 | g0015 | SAS | PJL | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG03453 | hp1 | a0001 | c0001 | t0008 | g0056 | AFR | MSL | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG03453 | hp2 | a0002 | c0020 | t0001 | g0008 | AFR | MSL | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG03486 | hp1 | a0002 | c0003 | t0001 | g0009 | AFR | MSL | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG03486 | hp2 | a0002 | c0003 | t0001 | g0012 | AFR | MSL | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG03540 | hp1 | a0002 | c0012 | t0005 | g0025 | AFR | GWD | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG03540 | hp2 | a0002 | c0003 | t0001 | g0033 | AFR | GWD | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG03688 | hp1 | a0001 | c0002 | t0001 | g0023 | SAS | STU | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG03688 | hp2 | a0001 | c0002 | t0001 | g0028 | SAS | STU | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG04199 | hp1 | a0009 | c0024 | t0003 | g0001 | SAS | STU | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG04199 | hp2 | a0001 | c0001 | t0001 | g0053 | SAS | STU | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0039 | AFR | YRI | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| NA18906 | hp2 | a0001 | c0006 | t0001 | g0036 | AFR | YRI | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| NA18970 | hp1 | a0001 | c0002 | t0001 | g0048 | EAS | JPT | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| NA18970 | hp2 | a0001 | c0004 | t0001 | g0054 | EAS | JPT | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| NA18971 | hp1 | a0001 | c0001 | t0002 | g0031 | EAS | JPT | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| NA18971 | hp2 | a0001 | c0002 | t0002 | g0021 | EAS | JPT | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| NA18973 | hp1 | a0001 | c0005 | t0001 | g0052 | EAS | JPT | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| NA18973 | hp2 | a0001 | c0002 | t0001 | g0019 | EAS | JPT | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| NA18995 | hp1 | a0002 | c0007 | t0001 | g0010 | EAS | JPT | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| NA19004 | hp1 | a0001 | c0002 | t0001 | g0022 | EAS | JPT | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| NA19004 | hp2 | a0001 | c0002 | t0001 | g0038 | EAS | JPT | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| NA19007 | hp1 | a0001 | c0002 | t0001 | g0026 | EAS | JPT | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG03471 | hp1 | a0001 | c0013 | t0001 | g0034 | AFR | MSL | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| HG03471 | hp2 | a0001 | c0006 | t0001 | g0035 | AFR | MSL | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| homoSapiens | chm13v2 | a0001 | c0016 | t0004 | g0024 | REF | REF | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0044 | REF | REF | MED16_chr19_862963_898187 | MED16 | chr19 | 862963 | 898187 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:867964 | G | T | 1 | a0008 | 1 | HG02818.hp1 | splice_region_variant | LOW | c.*137C>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 16/16 | chr19 | 867964 | |||||||
| chr19:868115 | C | T | 3 | a0002 a0005 a0008 |
15 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(12): Show |
missense_variant | MODERATE | c.2620G>A | p.Glu874Lys | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 16/16 | 2740/2892 | 2620/2634 | 874/877 | chr19 | 868115 | |||
| chr19:868120 | T | G | 1 | a0007 | 1 | HG02735.hp1 | missense_variant | MODERATE | c.2615A>C | p.His872Pro | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 16/16 | 2735/2892 | 2615/2634 | 872/877 | chr19 | 868120 | |||
| chr19:868219 | A | C | 1 | a0007 | 1 | HG02735.hp1 | missense_variant | MODERATE | c.2516T>G | p.Val839Gly | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 16/16 | 2636/2892 | 2516/2634 | 839/877 | chr19 | 868219 | |||
| chr19:868223 | A | T | 1 | a0006 | 1 | HG01978.hp1 | missense_variant | MODERATE | c.2512T>A | p.Cys838Ser | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 16/16 | 2632/2892 | 2512/2634 | 838/877 | chr19 | 868223 | |||
| chr19:868237 | C | G | 1 | a0008 | 1 | HG02818.hp1 | missense_variant | MODERATE | c.2498G>C | p.Arg833Pro | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 16/16 | 2618/2892 | 2498/2634 | 833/877 | chr19 | 868237 | |||
| chr19:868240 | C | CCTTCAAC others(12): Show |
1 | a0003 | 1 | HG01099.hp1 | frameshift_variant&stop_gained | HIGH | c.2484-8_2494dupCCCT others(15): Show |
p.Gly832fs | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 16/16 | 2614/2892 | 2494/2634 | 832/877 | chr19 | 868240 | |||
| chr19:868455 | G | C | 1 | a0007 | 1 | HG02735.hp1 | missense_variant | MODERATE | c.2444C>G | p.Ala815Gly | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 15/16 | 2564/2892 | 2444/2634 | 815/877 | chr19 | 868455 | |||
| chr19:868456 | C | G | 1 | a0007 | 1 | HG02735.hp1 | missense_variant | MODERATE | c.2443G>C | p.Ala815Pro | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 15/16 | 2563/2892 | 2443/2634 | 815/877 | chr19 | 868456 | |||
| chr19:868468 | T | G | 1 | a0008 | 1 | HG02818.hp1 | missense_variant | MODERATE | c.2431A>C | p.Asn811His | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 15/16 | 2551/2892 | 2431/2634 | 811/877 | chr19 | 868468 | |||
| chr19:871113 | G | A | 1 | a0004 | 1 | HG01099.hp2 | missense_variant | MODERATE | c.2239C>T | p.Pro747Ser | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/16 | 2359/2892 | 2239/2634 | 747/877 | chr19 | 871113 | |||
| chr19:871139 | A | G | 1 | a0008 | 1 | HG02818.hp1 | missense_variant | MODERATE | c.2213T>C | p.Leu738Pro | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/16 | 2333/2892 | 2213/2634 | 738/877 | chr19 | 871139 | |||
| chr19:880010 | G | A | 1 | a0005 | 1 | HG01258.hp2 | missense_variant | MODERATE | c.1280C>T | p.Pro427Leu | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/16 | 1400/2892 | 1280/2634 | 427/877 | chr19 | 880010 | |||
| chr19:890233 | T | C | 1 | a0009 | 1 | HG04199.hp1 | missense_variant | MODERATE | c.181A>G | p.Met61Val | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 3/16 | 301/2892 | 181/2634 | 61/877 | chr19 | 890233 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:871135 | A | G | 12 | a0001c0015 a0001c0017 a0002c0003 others(9): Show |
18 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(15): Show |
synonymous_variant | LOW | c.2217T>C | p.Val739Val | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/16 | 2337/2892 | 2217/2634 | 739/877 | chr19 | 871135 | |||
| chr19:871171 | G | A | 1 | a0002c0012 | 1 | HG03540.hp1 | synonymous_variant | LOW | c.2181C>T | p.Pro727Pro | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/16 | 2301/2892 | 2181/2634 | 727/877 | chr19 | 871171 | |||
| chr19:871222 | G | A | 3 | a0001c0004 a0001c0014 a0009c0024 |
4 | HG02735.hp2 HG03239.hp2 HG04199.hp1 others(1): Show |
synonymous_variant | LOW | c.2130C>T | p.Asp710Asp | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/16 | 2250/2892 | 2130/2634 | 710/877 | chr19 | 871222 | |||
| chr19:871987 | G | A | 7 | a0002c0003 a0002c0012 a0002c0020 others(4): Show |
12 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(9): Show |
synonymous_variant | LOW | c.2037C>T | p.Thr679Thr | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/16 | 2157/2892 | 2037/2634 | 679/877 | chr19 | 871987 | |||
| chr19:872002 | G | A | 1 | a0002c0020 | 1 | HG03453.hp2 | synonymous_variant | LOW | c.2022C>T | p.Pro674Pro | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/16 | 2142/2892 | 2022/2634 | 674/877 | chr19 | 872002 | |||
| chr19:872089 | A | G | 5 | a0001c0004 a0001c0006 a0001c0013 others(2): Show |
7 | HG02735.hp2 HG03239.hp2 HG03471.hp1 others(4): Show |
synonymous_variant | LOW | c.1935T>C | p.Phe645Phe | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/16 | 2055/2892 | 1935/2634 | 645/877 | chr19 | 872089 | |||
| chr19:875245 | G | A | 1 | a0001c0006 | 2 | HG03471.hp2 NA18906.hp2 |
splice_region_variant&synonymous_variant | LOW | c.1770C>T | p.Val590Val | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 10/16 | 1890/2892 | 1770/2634 | 590/877 | chr19 | 875245 | |||
| chr19:875389 | G | A | 8 | a0002c0003 a0002c0007 a0002c0020 others(5): Show |
14 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(11): Show |
synonymous_variant | LOW | c.1626C>T | p.Thr542Thr | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 10/16 | 1746/2892 | 1626/2634 | 542/877 | chr19 | 875389 | |||
| chr19:880057 | C | T | 1 | a0001c0017 | 1 | HG02451.hp2 | synonymous_variant | LOW | c.1233G>A | p.Pro411Pro | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/16 | 1353/2892 | 1233/2634 | 411/877 | chr19 | 880057 | |||
| chr19:880066 | G | A | 6 | a0001c0002 a0002c0008 a0002c0012 others(3): Show |
15 | HG00673.hp2 HG01099.hp1 HG01978.hp1 others(12): Show |
synonymous_variant | LOW | c.1224C>T | p.Ser408Ser | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/16 | 1344/2892 | 1224/2634 | 408/877 | chr19 | 880066 | |||
| chr19:880126 | G | A | 1 | a0002c0022 | 1 | HG02818.hp2 | synonymous_variant | LOW | c.1164C>T | p.Asp388Asp | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/16 | 1284/2892 | 1164/2634 | 388/877 | chr19 | 880126 | |||
| chr19:881602 | G | A | 1 | a0002c0023 | 1 | HG02886.hp1 | synonymous_variant | LOW | c.1098C>T | p.Thr366Thr | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 7/16 | 1218/2892 | 1098/2634 | 366/877 | chr19 | 881602 | |||
| chr19:885818 | A | G | 18 | a0001c0002 a0001c0004 a0001c0005 others(15): Show |
35 | HG00609.hp2 HG00673.hp1 HG00673.hp2 others(32): Show |
synonymous_variant | LOW | c.831T>C | p.Phe277Phe | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 5/16 | 951/2892 | 831/2634 | 277/877 | chr19 | 885818 | |||
| chr19:890165 | G | A | 9 | a0001c0017 a0002c0003 a0002c0007 others(6): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
synonymous_variant | LOW | c.249C>T | p.Ala83Ala | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 3/16 | 369/2892 | 249/2634 | 83/877 | chr19 | 890165 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:868002 | C | T | 2 | a0001c0001t0002 a0001c0002t0002 |
3 | HG01978.hp2 NA18971.hp1 NA18971.hp2 |
3_prime_UTR_variant | MODIFIER | c.*99G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 16/16 | 99 | chr19 | 868002 | ||||||
| chr19:868033 | G | C | 1 | a0007c0009t0007 | 1 | HG02735.hp1 | 3_prime_UTR_variant | MODIFIER | c.*68C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 16/16 | 68 | chr19 | 868033 | ||||||
| chr19:868049 | C | G | 1 | a0007c0009t0007 | 1 | HG02735.hp1 | 3_prime_UTR_variant | MODIFIER | c.*52G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 16/16 | 52 | chr19 | 868049 | ||||||
| chr19:868050 | G | C | 1 | a0007c0009t0007 | 1 | HG02735.hp1 | 3_prime_UTR_variant | MODIFIER | c.*51C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 16/16 | 51 | chr19 | 868050 | ||||||
| chr19:868051 | A | C | 1 | a0007c0009t0007 | 1 | HG02735.hp1 | 3_prime_UTR_variant | MODIFIER | c.*50T>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 16/16 | 50 | chr19 | 868051 | ||||||
| chr19:868057 | C | T | 1 | a0002c0012t0005 | 1 | HG03540.hp1 | 3_prime_UTR_variant | MODIFIER | c.*44G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 16/16 | 44 | chr19 | 868057 | ||||||
| chr19:868081 | T | G | 1 | a0007c0009t0007 | 1 | HG02735.hp1 | 3_prime_UTR_variant | MODIFIER | c.*20A>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 16/16 | 20 | chr19 | 868081 | ||||||
| chr19:868096 | G | A | 1 | a0001c0004t0001 | 1 | NA18970.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 16/16 | 5 | chr19 | 868096 | ||||||
| chr19:893116 | C | A | 1 | a0001c0001t0008 | 1 | HG03453.hp1 | 5_prime_UTR_variant | MODIFIER | c.-49G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/16 | 1985 | chr19 | 893116 | ||||||
| chr19:893183 | C | T | 2 | a0001c0014t0003 a0009c0024t0003 |
2 | HG02735.hp2 HG04199.hp1 |
5_prime_UTR_variant | MODIFIER | c.-116G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/16 | 2052 | chr19 | 893183 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:868258 | G | A | 1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | splice_region_variant&intron_variant | LOW | c.2484-7C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 15/15 | chr19 | 868258 | |||||||
| chr19:868325 | C | CAGGGCAG others(3): Show |
1 | a0008c0018t0006g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2484-75_2484-74ins others(10): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 15/15 | chr19 | 868325 | |||||||
| chr19:868331 | C | T | 1 | a0008c0018t0006g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2484-80G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 15/15 | chr19 | 868331 | |||||||
| chr19:868340 | G | A | 1 | a0008c0018t0006g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2483+76C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 15/15 | chr19 | 868340 | |||||||
| chr19:868340 | G | GGTAGCTG others(4): Show |
2 | a0001c0002t0001g0048 a0002c0007t0001g0014 |
2 | HG02809.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.2483+65_2483+75dup others(11): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 15/15 | chr19 | 868340 | |||||||
| chr19:868354 | A | C | 1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2483+62T>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 15/15 | chr19 | 868354 | |||||||
| chr19:868503 | C | T | 1 | a0001c0001t0001g0039 | 1 | NA18906.hp1 | splice_region_variant&intron_variant | LOW | c.2400-4G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868503 | |||||||
| chr19:868507 | G | T | 1 | a0001c0002t0001g0019 | 1 | NA18973.hp2 | splice_region_variant&intron_variant | LOW | c.2400-8C>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868507 | |||||||
| chr19:868535 | C | A | 1 | a0006c0011t0001g0049 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2400-36G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868535 | |||||||
| chr19:868551 | T | C | 18 | a0001c0015t0001g0030 a0001c0017t0001g0003 a0002c0003t0001g0006 others(15): Show |
18 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(15): Show |
intron_variant | MODIFIER | c.2400-52A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868551 | |||||||
| chr19:868565 | T | G | 1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2400-66A>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868565 | |||||||
| chr19:868572 | T | G | 1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2400-73A>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868572 | |||||||
| chr19:868573 | C | G | 1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2400-74G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868573 | |||||||
| chr19:868575 | A | C | 1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2400-76T>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868575 | |||||||
| chr19:868620 | G | A | 13 | a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0009 others(10): Show |
13 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.2400-121C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868620 | |||||||
| chr19:868635 | A | C | 1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2400-136T>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868635 | |||||||
| chr19:868639 | C | G | 1 | a0008c0018t0006g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2400-140G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868639 | |||||||
| chr19:868649 | T | G | 1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2400-150A>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868649 | |||||||
| chr19:868695 | A | T | 1 | a0008c0018t0006g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2399+168T>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868695 | |||||||
| chr19:868740 | T | C | 1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2399+123A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868740 | |||||||
| chr19:868741 | C | T | 1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2399+122G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868741 | |||||||
| chr19:868849 | C | G | 1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2399+14G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868849 | |||||||
| chr19:868850 | G | A | 1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2399+13C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868850 | |||||||
| chr19:868854 | G | C | 1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2399+9C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 14/15 | chr19 | 868854 | |||||||
| chr19:868962 | A | G | 1 | a0008c0018t0006g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2316-16T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 868962 | |||||||
| chr19:868983 | CACCACGA others(38): Show |
C | 1 | a0001c0001t0002g0031 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.2316-82_2316-38del others(45): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 868983 | |||||||
| chr19:868992 | G | C | 1 | a0008c0018t0006g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2316-46C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 868992 | |||||||
| chr19:868994 | C | A | 1 | a0008c0018t0006g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2316-48G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 868994 | |||||||
| chr19:868995 | A | G | 1 | a0008c0018t0006g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2316-49T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 868995 | |||||||
| chr19:868999 | T | C | 1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2316-53A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 868999 | |||||||
| chr19:869001 | C | T | 1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2316-55G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 869001 | |||||||
| chr19:869025 | G | A | 1 | a0001c0002t0001g0022 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.2316-79C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 869025 | |||||||
| chr19:869037 | A | G | 18 | a0001c0015t0001g0030 a0001c0017t0001g0003 a0002c0003t0001g0006 others(15): Show |
18 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(15): Show |
intron_variant | MODIFIER | c.2316-91T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 869037 | |||||||
| chr19:869061 | C | T | 1 | a0001c0002t0001g0048 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.2316-115G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 869061 | |||||||
| chr19:869198 | C | T | 4 | a0001c0004t0001g0015 a0001c0004t0001g0054 a0001c0014t0003g0002 others(1): Show |
4 | HG02735.hp2 HG03239.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.2316-252G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 869198 | |||||||
| chr19:869336 | A | T | 1 | a0008c0018t0006g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2316-390T>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 869336 | |||||||
| chr19:869416 | T | C | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.2316-470A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 869416 | |||||||
| chr19:869496 | A | G | 18 | a0001c0015t0001g0030 a0001c0017t0001g0003 a0002c0003t0001g0006 others(15): Show |
18 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(15): Show |
intron_variant | MODIFIER | c.2316-550T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 869496 | |||||||
| chr19:869650 | C | CCGGAGCC others(48): Show |
1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.2316-759_2316-705d others(57): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 869650 | |||||||
| chr19:869700 | G | C | 2 | a0001c0015t0001g0030 a0001c0017t0001g0003 |
2 | HG02451.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2316-754C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 869700 | |||||||
| chr19:869734 | T | C | 1 | a0001c0001t0001g0039 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2316-788A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 869734 | |||||||
| chr19:869776 | A | T | 1 | a0008c0018t0006g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2316-830T>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 869776 | |||||||
| chr19:869804 | T | A | 1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2316-858A>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 869804 | |||||||
| chr19:869912 | T | TG | 3 | a0001c0001t0001g0039 a0002c0003t0001g0009 a0003c0010t0001g0037 |
3 | HG01099.hp1 HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2316-967dupC | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 869912 | |||||||
| chr19:869997 | G | C | 1 | a0006c0011t0001g0049 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2315+1040C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 869997 | |||||||
| chr19:869998 | C | A | 1 | a0006c0011t0001g0049 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2315+1039G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 869998 | |||||||
| chr19:870039 | G | A | 1 | a0002c0022t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2315+998C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870039 | |||||||
| chr19:870109 | G | A | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.2315+928C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870109 | |||||||
| chr19:870112 | G | A | 1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2315+925C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870112 | |||||||
| chr19:870122 | A | T | 1 | a0008c0018t0006g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2315+915T>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870122 | |||||||
| chr19:870199 | G | T | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.2315+838C>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870199 | |||||||
| chr19:870212 | A | T | 1 | a0001c0017t0001g0003 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2315+825T>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870212 | |||||||
| chr19:870213 | G | A | 1 | a0001c0001t0001g0039 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2315+824C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870213 | |||||||
| chr19:870292 | G | A | 1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2315+745C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870292 | |||||||
| chr19:870419 | GGTGTGGT others(31): Show |
G | 1 | a0001c0002t0001g0026 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.2315+580_2315+617d others(40): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870419 | |||||||
| chr19:870425 | G | A | 2 | a0001c0006t0001g0035 a0001c0006t0001g0036 |
2 | HG03471.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.2315+612C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870425 | |||||||
| chr19:870453 | G | A | 12 | a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 others(9): Show |
12 | HG01099.hp1 HG01978.hp1 HG01978.hp2 others(9): Show |
intron_variant | MODIFIER | c.2315+584C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870453 | |||||||
| chr19:870485 | C | T | 1 | a0001c0001t0008g0056 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2315+552G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870485 | |||||||
| chr19:870489 | A | G | 13 | a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0009 others(10): Show |
13 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.2315+548T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870489 | |||||||
| chr19:870519 | C | T | 1 | a0002c0007t0001g0010 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.2315+518G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870519 | |||||||
| chr19:870558 | C | T | 2 | a0002c0007t0001g0010 a0002c0008t0001g0018 |
2 | HG00673.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.2315+479G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870558 | |||||||
| chr19:870566 | C | CA | 6 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 others(3): Show |
6 | HG01256.hp1 HG02451.hp1 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.2315+470dupT | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870566 | |||||||
| chr19:870566 | CA | C | 15 | a0001c0001t0001g0032 a0001c0005t0001g0052 a0001c0015t0001g0030 others(12): Show |
15 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(12): Show |
intron_variant | MODIFIER | c.2315+470delT | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870566 | |||||||
| chr19:870593 | TGAATGGA others(26): Show |
T | 1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.2315+411_2315+443d others(35): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870593 | |||||||
| chr19:870650 | C | CACTAGGG others(34): Show |
1 | a0001c0001t0001g0047 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.2315+346_2315+386d others(43): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870650 | |||||||
| chr19:870709 | G | A | 3 | a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0020t0001g0008 |
3 | HG02809.hp2 HG03453.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.2315+328C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870709 | |||||||
| chr19:870749 | TGGGGCAG others(39): Show |
T | 2 | a0001c0002t0001g0028 a0001c0002t0001g0029 |
2 | HG03239.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.2315+242_2315+287d others(48): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870749 | |||||||
| chr19:870762 | G | A | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.2315+275C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870762 | |||||||
| chr19:870776 | G | A | 1 | a0001c0017t0001g0003 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2315+261C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870776 | |||||||
| chr19:870796 | G | C | 1 | a0001c0001t0001g0046 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2315+241C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870796 | |||||||
| chr19:870808 | G | A | 1 | a0002c0003t0001g0017 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2315+229C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870808 | |||||||
| chr19:870815 | G | A | 1 | a0001c0001t0001g0055 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.2315+222C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870815 | |||||||
| chr19:870860 | AG | A | 2 | a0001c0017t0001g0003 a0007c0009t0007g0027 |
2 | HG02451.hp2 HG02735.hp1 |
intron_variant | MODIFIER | c.2315+176delC | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870860 | |||||||
| chr19:870946 | C | G | 18 | a0001c0015t0001g0030 a0001c0017t0001g0003 a0002c0003t0001g0006 others(15): Show |
18 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(15): Show |
intron_variant | MODIFIER | c.2315+91G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | 870946 | |||||||
| chr19:871278 | T | TCAGCACC others(16): Show |
1 | a0001c0002t0001g0048 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.2099-48_2099-26dup others(23): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871278 | |||||||
| chr19:871444 | CAGAGTTC others(39): Show |
C | 1 | a0001c0001t0001g0046 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2099-237_2099-192d others(48): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871444 | |||||||
| chr19:871447 | A | G | 37 | a0001c0001t0001g0039 a0001c0001t0008g0056 a0001c0002t0001g0019 others(34): Show |
37 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(34): Show |
intron_variant | MODIFIER | c.2099-194T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871447 | |||||||
| chr19:871457 | C | T | 6 | a0002c0003t0001g0006 a0002c0003t0001g0017 a0002c0007t0001g0010 others(3): Show |
6 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(3): Show |
intron_variant | MODIFIER | c.2099-204G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871457 | |||||||
| chr19:871557 | C | T | 1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2099-304G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871557 | |||||||
| chr19:871689 | G | A | 1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2098+237C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871689 | |||||||
| chr19:871724 | G | A | 16 | a0001c0015t0001g0030 a0001c0017t0001g0003 a0002c0003t0001g0006 others(13): Show |
16 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(13): Show |
intron_variant | MODIFIER | c.2098+202C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871724 | |||||||
| chr19:871760 | A | AGGGGAGC others(39): Show |
1 | a0005c0021t0001g0004 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.2098+165_2098+166i others(48): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871760 | |||||||
| chr19:871767 | C | A | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.2098+159G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871767 | |||||||
| chr19:871767 | C | T | 2 | a0001c0015t0001g0030 a0001c0017t0001g0003 |
2 | HG02451.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2098+159G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871767 | |||||||
| chr19:871768 | G | T | 1 | a0002c0003t0001g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2098+158C>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871768 | |||||||
| chr19:871774 | A | AGGGAGAG others(32): Show |
1 | a0002c0003t0001g0017 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2098+151_2098+152i others(41): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871774 | |||||||
| chr19:871774 | A | AGGGGAGA others(130): Show |
1 | a0002c0003t0001g0009 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2098+151_2098+152i others(139): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871774 | |||||||
| chr19:871777 | G | GAGAGGGG others(40): Show |
1 | a0002c0003t0001g0012 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2098+148_2098+149i others(49): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871777 | |||||||
| chr19:871777 | G | GGAGCGGG others(88): Show |
1 | a0002c0003t0001g0033 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2098+148_2098+149i others(97): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871777 | |||||||
| chr19:871781 | A | AG | 3 | a0001c0001t0001g0053 a0001c0002t0001g0023 a0006c0011t0001g0049 |
3 | HG01978.hp1 HG03688.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.2098+144dupC | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871781 | |||||||
| chr19:871781 | A | C | 1 | a0002c0003t0001g0033 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2098+145T>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871781 | |||||||
| chr19:871781 | A | G | 1 | a0002c0003t0001g0012 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2098+145T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871781 | |||||||
| chr19:871782 | G | A | 3 | a0002c0003t0001g0017 a0002c0007t0001g0014 a0008c0018t0006g0013 |
3 | HG00673.hp1 HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.2098+144C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871782 | |||||||
| chr19:871782 | G | GCGGGGAG others(2): Show |
2 | a0001c0015t0001g0030 a0001c0017t0001g0003 |
2 | HG02451.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2098+143_2098+144i others(11): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871782 | |||||||
| chr19:871783 | G | A | 5 | a0001c0015t0001g0030 a0001c0017t0001g0003 a0002c0003t0001g0017 others(2): Show |
5 | HG00673.hp1 HG02451.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.2098+143C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871783 | |||||||
| chr19:871783 | G | GGGGGAGC others(32): Show |
2 | a0002c0003t0001g0006 a0004c0019t0001g0016 |
2 | HG01070.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.2098+142_2098+143i others(41): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871783 | |||||||
| chr19:871783 | G | GGGGGAGC others(55): Show |
1 | a0002c0007t0001g0010 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.2098+142_2098+143i others(64): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871783 | |||||||
| chr19:871783 | G | GGGGGAGC others(97): Show |
1 | a0002c0020t0001g0008 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2098+142_2098+143i others(106): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871783 | |||||||
| chr19:871783 | G | GGGGGGAG others(33): Show |
2 | a0002c0008t0001g0018 a0002c0022t0001g0011 |
2 | HG00673.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.2098+142_2098+143i others(42): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871783 | |||||||
| chr19:871783 | G | GGGGGGGG others(116): Show |
1 | a0002c0003t0001g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2098+142_2098+143i others(125): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871783 | |||||||
| chr19:871786 | A | G | 1 | a0002c0023t0001g0005 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2098+140T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871786 | |||||||
| chr19:871790 | C | A | 1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2098+136G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871790 | |||||||
| chr19:871797 | A | G | 1 | a0002c0003t0001g0033 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2098+129T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871797 | |||||||
| chr19:871798 | A | AGGGAGAG others(680): Show |
1 | a0006c0011t0001g0049 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2098+127_2098+128i others(689): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871798 | |||||||
| chr19:871798 | A | G | 8 | a0001c0015t0001g0030 a0001c0017t0001g0003 a0002c0003t0001g0009 others(5): Show |
8 | HG02451.hp2 HG02809.hp1 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.2098+128T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871798 | |||||||
| chr19:871799 | G | A | 9 | a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0012 others(6): Show |
9 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(6): Show |
intron_variant | MODIFIER | c.2098+127C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871799 | |||||||
| chr19:871802 | A | AGAGGGGG others(7): Show |
1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2098+123_2098+124i others(16): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871802 | |||||||
| chr19:871806 | C | A | 1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2098+120G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871806 | |||||||
| chr19:871813 | A | AG | 4 | a0001c0001t0001g0032 a0001c0001t0002g0031 a0002c0008t0001g0018 others(1): Show |
4 | HG00673.hp2 HG01070.hp2 HG01099.hp2 others(1): Show |
intron_variant | MODIFIER | c.2098+112dupC | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871813 | |||||||
| chr19:871814 | G | A | 4 | a0002c0003t0001g0012 a0002c0007t0001g0010 a0002c0023t0001g0005 others(1): Show |
4 | HG01258.hp2 HG02886.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.2098+112C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871814 | |||||||
| chr19:871815 | G | A | 4 | a0002c0003t0001g0012 a0002c0007t0001g0010 a0002c0023t0001g0005 others(1): Show |
4 | HG01258.hp2 HG02886.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.2098+111C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871815 | |||||||
| chr19:871818 | A | AGAGGGGA others(7): Show |
2 | a0001c0015t0001g0030 a0001c0017t0001g0003 |
2 | HG02451.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2098+107_2098+108i others(16): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871818 | |||||||
| chr19:871818 | A | AGTGAGCG others(1022): Show |
1 | a0001c0006t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2098+107_2098+108i others(1031): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871818 | |||||||
| chr19:871822 | C | CGGGGAGA others(67): Show |
1 | a0001c0002t0001g0026 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.2098+103_2098+104i others(76): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871822 | |||||||
| chr19:871822 | C | G | 2 | a0002c0007t0001g0014 a0002c0022t0001g0011 |
2 | HG02809.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.2098+104G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871822 | |||||||
| chr19:871827 | A | G | 1 | a0002c0007t0001g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2098+99T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871827 | |||||||
| chr19:871829 | A | AG | 3 | a0001c0001t0001g0050 a0001c0001t0001g0053 a0002c0003t0001g0007 |
3 | HG02809.hp2 HG04199.hp2 NA18995.hp2 |
intron_variant | MODIFIER | c.2098+96dupC | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871829 | |||||||
| chr19:871829 | A | AGGGGAGA others(573): Show |
1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2098+96_2098+97ins others(580): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871829 | |||||||
| chr19:871829 | A | C | 2 | a0002c0003t0001g0033 a0002c0022t0001g0011 |
2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.2098+97T>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871829 | |||||||
| chr19:871830 | G | A | 1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2098+96C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871830 | |||||||
| chr19:871831 | G | A | 1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2098+95C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871831 | |||||||
| chr19:871831 | G | C | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.2098+95C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871831 | |||||||
| chr19:871831 | G | GGAGAGAG others(2193): Show |
1 | a0001c0001t0001g0047 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.2098+94_2098+95ins others(2200): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871831 | |||||||
| chr19:871834 | A | AGAGGGGA others(14): Show |
3 | a0001c0001t0008g0056 a0001c0002t0001g0028 a0001c0002t0002g0020 |
3 | HG01978.hp2 HG03453.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.2098+91_2098+92ins others(21): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871834 | |||||||
| chr19:871834 | A | AGAGGGGA others(44): Show |
2 | a0001c0002t0001g0029 a0001c0002t0002g0021 |
2 | HG03239.hp1 NA18971.hp2 |
intron_variant | MODIFIER | c.2098+91_2098+92ins others(51): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871834 | |||||||
| chr19:871834 | A | AGAGGGGA others(83): Show |
1 | a0001c0002t0001g0048 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.2098+91_2098+92ins others(90): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871834 | |||||||
| chr19:871834 | A | AGAGGGGA others(1590): Show |
1 | a0001c0002t0001g0038 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.2098+91_2098+92ins others(1597): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871834 | |||||||
| chr19:871834 | A | AGAGGGGA others(58): Show |
4 | a0001c0004t0001g0015 a0001c0004t0001g0054 a0001c0013t0001g0034 others(1): Show |
4 | HG03239.hp2 HG03471.hp1 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.2098+91_2098+92ins others(65): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871834 | |||||||
| chr19:871834 | A | AGAGGGGA others(530): Show |
1 | a0001c0002t0001g0019 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.2098+91_2098+92ins others(537): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871834 | |||||||
| chr19:871834 | A | AGAGGGGA others(59): Show |
1 | a0001c0014t0003g0002 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2098+91_2098+92ins others(66): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871834 | |||||||
| chr19:871834 | A | AGAGGGGA others(1583): Show |
1 | a0003c0010t0001g0037 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2098+91_2098+92ins others(1590): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871834 | |||||||
| chr19:871834 | A | AGAGGGGG others(59): Show |
1 | a0001c0006t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2098+91_2098+92ins others(66): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871834 | |||||||
| chr19:871834 | A | G | 3 | a0001c0001t0001g0047 a0002c0007t0001g0014 a0008c0018t0006g0013 |
3 | HG02809.hp1 HG02818.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.2098+92T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871834 | |||||||
| chr19:871838 | C | A | 8 | a0001c0002t0001g0048 a0001c0002t0002g0021 a0001c0004t0001g0015 others(5): Show |
8 | HG02735.hp2 HG03239.hp2 HG03471.hp1 others(5): Show |
intron_variant | MODIFIER | c.2098+88G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871838 | |||||||
| chr19:871838 | C | CGGGGAGA others(58): Show |
1 | a0001c0001t0002g0031 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.2098+87_2098+88ins others(65): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871838 | |||||||
| chr19:871838 | C | CGGGGAGC others(7): Show |
1 | a0001c0001t0001g0039 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2098+87_2098+88ins others(14): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871838 | |||||||
| chr19:871838 | C | CGGGGAGC others(51): Show |
1 | a0001c0001t0001g0051 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.2098+87_2098+88ins others(58): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871838 | |||||||
| chr19:871838 | C | CGGGGAGC others(51): Show |
1 | a0001c0001t0001g0046 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2098+87_2098+88ins others(58): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871838 | |||||||
| chr19:871838 | C | G | 4 | a0002c0003t0001g0017 a0002c0003t0001g0033 a0002c0022t0001g0011 others(1): Show |
4 | HG00673.hp1 HG01099.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.2098+88G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871838 | |||||||
| chr19:871841 | G | A | 1 | a0002c0003t0001g0017 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2098+85C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871841 | |||||||
| chr19:871845 | A | C | 7 | a0001c0001t0001g0045 a0001c0002t0001g0026 a0001c0015t0001g0030 others(4): Show |
7 | HG00673.hp1 HG02004.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.2098+81T>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871845 | |||||||
| chr19:871846 | G | GGGGAGCG others(702): Show |
1 | a0001c0001t0001g0045 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.2098+79_2098+80ins others(709): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871846 | |||||||
| chr19:871854 | C | A | 3 | a0001c0001t0001g0047 a0001c0002t0001g0038 a0003c0010t0001g0037 |
3 | HG01099.hp1 NA19004.hp2 NA19007.hp2 |
intron_variant | MODIFIER | c.2098+72G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871854 | |||||||
| chr19:871854 | C | G | 17 | a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0048 others(14): Show |
17 | HG00673.hp2 HG01099.hp2 HG01258.hp2 others(14): Show |
intron_variant | MODIFIER | c.2098+72G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871854 | |||||||
| chr19:871857 | G | A | 8 | a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0048 others(5): Show |
8 | HG00673.hp1 HG02451.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.2098+69C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871857 | |||||||
| chr19:871861 | C | A | 6 | a0001c0002t0001g0019 a0001c0006t0001g0035 a0002c0003t0001g0006 others(3): Show |
6 | HG01070.hp1 HG01978.hp1 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.2098+65G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871861 | |||||||
| chr19:871861 | C | CGGGGAGG others(3): Show |
1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.2098+64_2098+65ins others(10): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871861 | |||||||
| chr19:871861 | C | G | 1 | a0002c0003t0001g0017 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2098+65G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871861 | |||||||
| chr19:871868 | C | A | 24 | a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0045 others(21): Show |
24 | HG00609.hp1 HG00673.hp1 HG00673.hp2 others(21): Show |
intron_variant | MODIFIER | c.2098+58G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871868 | |||||||
| chr19:871875 | A | C | 2 | a0001c0002t0001g0038 a0003c0010t0001g0037 |
2 | HG01099.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.2098+51T>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871875 | |||||||
| chr19:871877 | G | A | 2 | a0001c0001t0001g0047 a0002c0003t0001g0009 |
2 | HG03486.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.2098+49C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871877 | |||||||
| chr19:871877 | G | C | 4 | a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0015t0001g0030 others(1): Show |
4 | HG00609.hp1 HG01070.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.2098+49C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871877 | |||||||
| chr19:871880 | A | G | 12 | a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0047 others(9): Show |
12 | HG00609.hp1 HG00673.hp1 HG00673.hp2 others(9): Show |
intron_variant | MODIFIER | c.2098+46T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871880 | |||||||
| chr19:871884 | C | A | 4 | a0001c0002t0001g0038 a0002c0003t0001g0033 a0002c0023t0001g0005 others(1): Show |
4 | HG01099.hp1 HG02886.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.2098+42G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871884 | |||||||
| chr19:871884 | C | G | 5 | a0001c0002t0001g0028 a0002c0003t0001g0006 a0002c0003t0001g0007 others(2): Show |
5 | HG01070.hp1 HG01099.hp2 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.2098+42G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871884 | |||||||
| chr19:871887 | G | A | 1 | a0001c0002t0001g0028 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2098+39C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871887 | |||||||
| chr19:871887 | G | GGGAGAGG others(944): Show |
1 | a0002c0020t0001g0008 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2098+38_2098+39ins others(951): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871887 | |||||||
| chr19:871889 | A | AGACGGGA others(2086): Show |
1 | a0006c0011t0001g0049 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2098+36_2098+37ins others(2093): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871889 | |||||||
| chr19:871889 | A | AGAGCGGG others(2024): Show |
1 | a0001c0002t0001g0019 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.2098+36_2098+37ins others(2031): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871889 | |||||||
| chr19:871889 | A | AGAGCGGG others(2387): Show |
1 | a0001c0006t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2098+36_2098+37ins others(2394): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871889 | |||||||
| chr19:871889 | A | AGAGGGGA others(1865): Show |
1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2098+36_2098+37ins others(1872): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871889 | |||||||
| chr19:871889 | A | AGAGGGGA others(3041): Show |
1 | a0001c0001t0001g0032 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2098+36_2098+37ins others(3048): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871889 | |||||||
| chr19:871889 | A | AGAGGGGA others(3150): Show |
1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.2098+36_2098+37ins others(3157): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871889 | |||||||
| chr19:871889 | A | AGAGGGGG others(867): Show |
1 | a0002c0023t0001g0005 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2098+36_2098+37ins others(874): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871889 | |||||||
| chr19:871889 | A | G | 1 | a0002c0020t0001g0008 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2098+37T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871889 | |||||||
| chr19:871890 | G | GAGGGGGA others(736): Show |
1 | a0002c0003t0001g0012 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2098+35_2098+36ins others(743): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871890 | |||||||
| chr19:871890 | G | GGGGCGGG others(939): Show |
1 | a0005c0021t0001g0004 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.2098+35_2098+36ins others(946): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871890 | |||||||
| chr19:871890 | G | GGGGCGGG others(772): Show |
1 | a0002c0008t0001g0018 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.2098+35_2098+36ins others(779): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871890 | |||||||
| chr19:871890 | G | GGGGCGGG others(817): Show |
1 | a0002c0007t0001g0010 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.2098+35_2098+36ins others(824): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871890 | |||||||
| chr19:871891 | C | A | 2 | a0002c0003t0001g0009 a0002c0003t0001g0017 |
2 | HG00673.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2098+35G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGAGAG others(2409): Show |
1 | a0001c0002t0002g0020 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(2416): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(1118): Show |
1 | a0001c0001t0001g0047 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(1125): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(3685): Show |
1 | a0001c0015t0001g0030 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(3692): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(3809): Show |
1 | a0001c0017t0001g0003 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(3816): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(2371): Show |
1 | a0001c0002t0001g0048 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(2378): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(2587): Show |
1 | a0001c0002t0001g0029 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(2594): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(2620): Show |
1 | a0001c0002t0002g0021 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(2627): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(3006): Show |
1 | a0001c0013t0001g0034 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(3013): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(2805): Show |
1 | a0001c0001t0001g0045 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(2812): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(2873): Show |
1 | a0001c0001t0001g0051 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(2880): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(3063): Show |
1 | a0001c0001t0001g0046 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(3070): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(3158): Show |
1 | a0001c0006t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(3165): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(2935): Show |
1 | a0001c0014t0003g0002 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(2942): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(2539): Show |
1 | a0001c0004t0001g0015 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(2546): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(2851): Show |
1 | a0009c0024t0003g0001 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(2858): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(2331): Show |
1 | a0001c0001t0001g0039 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(2338): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(935): Show |
1 | a0008c0018t0006g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(942): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(923): Show |
1 | a0002c0007t0001g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(930): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(3119): Show |
1 | a0001c0005t0001g0052 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(3126): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(2998): Show |
1 | a0001c0001t0001g0050 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(3005): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(2761): Show |
1 | a0001c0001t0001g0042 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(2768): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(2764): Show |
1 | a0001c0001t0001g0040 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(2771): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(3089): Show |
1 | a0001c0001t0001g0055 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(3096): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(3086): Show |
1 | a0001c0005t0001g0041 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(3093): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(2729): Show |
1 | a0001c0002t0001g0023 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(2736): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGA others(2690): Show |
1 | a0001c0002t0001g0022 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(2697): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGC others(2600): Show |
1 | a0001c0002t0001g0028 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(2607): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGC others(1848): Show |
1 | a0001c0001t0008g0056 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(1855): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGC others(758): Show |
1 | a0001c0002t0001g0038 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(765): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGC others(927): Show |
1 | a0003c0010t0001g0037 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(934): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGG others(718): Show |
1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(725): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGG others(867): Show |
1 | a0002c0003t0001g0033 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(874): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGAGG others(1393): Show |
1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(1400): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGGAG others(2648): Show |
1 | a0001c0004t0001g0054 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(2655): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | CGGGGGAG others(3108): Show |
1 | a0001c0001t0001g0053 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2098+34_2098+35ins others(3115): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871891 | C | G | 12 | a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0002t0001g0019 others(9): Show |
12 | HG00609.hp1 HG00673.hp2 HG01070.hp2 others(9): Show |
intron_variant | MODIFIER | c.2098+35G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871891 | |||||||
| chr19:871894 | G | GGAGAGGG others(3591): Show |
1 | a0001c0001t0002g0031 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.2098+31_2098+32ins others(3598): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871894 | |||||||
| chr19:871896 | A | AGGGGCGG others(239): Show |
1 | a0002c0022t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2098+29_2098+30ins others(246): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871896 | |||||||
| chr19:871898 | A | AGGGGAGA others(1025): Show |
1 | a0002c0003t0001g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2098+27_2098+28ins others(1032): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871898 | |||||||
| chr19:871898 | A | AGGGGGGA others(798): Show |
1 | a0002c0003t0001g0006 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.2098+27_2098+28ins others(805): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871898 | |||||||
| chr19:871898 | A | AGGGGGGA others(771): Show |
1 | a0002c0003t0001g0017 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2098+27_2098+28ins others(778): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871898 | |||||||
| chr19:871898 | A | AGGGGGGA others(618): Show |
1 | a0002c0003t0001g0009 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2098+27_2098+28ins others(625): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871898 | |||||||
| chr19:871898 | A | C | 7 | a0002c0003t0001g0012 a0002c0003t0001g0033 a0002c0007t0001g0010 others(4): Show |
7 | HG00673.hp2 HG01099.hp2 HG01258.hp2 others(4): Show |
intron_variant | MODIFIER | c.2098+28T>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871898 | |||||||
| chr19:871903 | A | AGAGCGGG others(2668): Show |
1 | a0001c0002t0001g0026 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.2098+22_2098+23ins others(2675): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | 871903 | |||||||
| chr19:872255 | G | A | 22 | a0001c0001t0001g0039 a0001c0001t0008g0056 a0001c0002t0001g0019 others(19): Show |
22 | HG01099.hp1 HG01978.hp1 HG01978.hp2 others(19): Show |
intron_variant | MODIFIER | c.1906-137C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872255 | |||||||
| chr19:872404 | G | A | 1 | a0001c0004t0001g0054 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.1906-286C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872404 | |||||||
| chr19:872612 | GC | G | 2 | a0001c0002t0001g0023 a0007c0009t0007g0027 |
2 | HG02735.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.1906-495delG | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872612 | |||||||
| chr19:872614 | A | G | 35 | a0001c0001t0001g0039 a0001c0001t0008g0056 a0001c0002t0001g0019 others(32): Show |
35 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(32): Show |
intron_variant | MODIFIER | c.1906-496T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872614 | |||||||
| chr19:872642 | AGT | A | 2 | a0002c0003t0001g0009 a0002c0003t0001g0012 |
2 | HG03486.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1906-526_1906-525d others(4): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872642 | |||||||
| chr19:872652 | C | CG | 5 | a0001c0001t0001g0053 a0001c0002t0001g0019 a0002c0008t0001g0018 others(2): Show |
5 | HG00673.hp2 HG01099.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.1906-535dupC | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872652 | |||||||
| chr19:872847 | G | A | 1 | a0001c0002t0001g0019 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.1905+602C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872847 | |||||||
| chr19:872862 | C | A | 1 | a0002c0003t0001g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1905+587G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872862 | |||||||
| chr19:872863 | G | C | 1 | a0002c0003t0001g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1905+586C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872863 | |||||||
| chr19:872864 | G | A | 1 | a0002c0003t0001g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1905+585C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872864 | |||||||
| chr19:872865 | G | C | 1 | a0002c0003t0001g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1905+584C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872865 | |||||||
| chr19:872866 | G | T | 1 | a0002c0003t0001g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1905+583C>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872866 | |||||||
| chr19:872869 | T | A | 1 | a0002c0003t0001g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1905+580A>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872869 | |||||||
| chr19:872871 | G | C | 1 | a0002c0003t0001g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1905+578C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872871 | |||||||
| chr19:872875 | A | T | 1 | a0002c0003t0001g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1905+574T>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872875 | |||||||
| chr19:872877 | G | A | 13 | a0002c0003t0001g0006 a0002c0003t0001g0009 a0002c0003t0001g0012 others(10): Show |
13 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(10): Show |
intron_variant | MODIFIER | c.1905+572C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872877 | |||||||
| chr19:872927 | G | A | 1 | a0002c0003t0001g0012 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1905+522C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872927 | |||||||
| chr19:872931 | A | AGGAGGGC others(173): Show |
1 | a0002c0003t0001g0009 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1905+517_1905+518i others(182): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872931 | |||||||
| chr19:872931 | A | AGGAGGGC others(118): Show |
1 | a0001c0006t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1905+517_1905+518i others(127): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872931 | |||||||
| chr19:872931 | A | G | 1 | a0002c0003t0001g0017 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1905+518T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872931 | |||||||
| chr19:872931 | AGGAGGGC others(47): Show |
A | 1 | a0001c0001t0001g0046 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1905+464_1905+517d others(56): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872931 | |||||||
| chr19:872947 | G | GGGGGAGG others(101): Show |
2 | a0001c0002t0001g0022 a0001c0002t0002g0021 |
2 | NA18971.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.1905+501_1905+502i others(110): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872947 | |||||||
| chr19:872951 | G | GGAGGGCT others(67): Show |
1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1905+497_1905+498i others(76): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872951 | |||||||
| chr19:872963 | GTGGGGCA others(155): Show |
G | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1905+324_1905+485d others(2): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872963 | |||||||
| chr19:872964 | T | A | 1 | a0002c0020t0001g0008 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1905+485A>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872964 | |||||||
| chr19:872964 | T | G | 13 | a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0029 others(10): Show |
13 | HG00673.hp1 HG01070.hp1 HG01099.hp1 others(10): Show |
intron_variant | MODIFIER | c.1905+485A>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872964 | |||||||
| chr19:872965 | G | A | 13 | a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0029 others(10): Show |
13 | HG00673.hp1 HG01070.hp1 HG01099.hp1 others(10): Show |
intron_variant | MODIFIER | c.1905+484C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872965 | |||||||
| chr19:872965 | G | GGGGGAGG others(119): Show |
1 | a0001c0006t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1905+483_1905+484i others(128): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872965 | |||||||
| chr19:872969 | C | CAGGGCTC others(29): Show |
1 | a0001c0001t0001g0050 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.1905+444_1905+479d others(38): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872969 | |||||||
| chr19:872969 | C | G | 24 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0026 others(21): Show |
24 | HG00673.hp1 HG01070.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.1905+480G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872969 | |||||||
| chr19:872982 | T | G | 2 | a0001c0015t0001g0030 a0001c0017t0001g0003 |
2 | HG02451.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1905+467A>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872982 | |||||||
| chr19:872983 | G | A | 2 | a0001c0015t0001g0030 a0001c0017t0001g0003 |
2 | HG02451.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1905+466C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872983 | |||||||
| chr19:872987 | G | C | 8 | a0001c0001t0008g0056 a0001c0002t0001g0019 a0001c0002t0001g0026 others(5): Show |
8 | HG00673.hp2 HG01978.hp1 HG03453.hp1 others(5): Show |
intron_variant | MODIFIER | c.1905+462C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 872987 | |||||||
| chr19:873000 | T | G | 1 | a0001c0001t0008g0056 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1905+449A>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873000 | |||||||
| chr19:873001 | G | A | 1 | a0001c0001t0008g0056 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1905+448C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873001 | |||||||
| chr19:873005 | G | C | 11 | a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0001g0038 others(8): Show |
11 | HG01099.hp2 HG01258.hp2 HG01978.hp1 others(8): Show |
intron_variant | MODIFIER | c.1905+444C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873005 | |||||||
| chr19:873005 | GAGGGCTC others(29): Show |
G | 1 | a0001c0017t0001g0003 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1905+408_1905+443d others(38): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873005 | |||||||
| chr19:873012 | C | A | 1 | a0006c0011t0001g0049 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1905+437G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873012 | |||||||
| chr19:873013 | C | G | 1 | a0006c0011t0001g0049 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1905+436G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873013 | |||||||
| chr19:873016 | G | A | 1 | a0006c0011t0001g0049 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1905+433C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873016 | |||||||
| chr19:873016 | GGTGGGGC others(137): Show |
G | 1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1905+289_1905+432d others(2): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873016 | |||||||
| chr19:873018 | T | G | 3 | a0001c0002t0001g0022 a0001c0002t0002g0021 a0002c0003t0001g0009 |
3 | HG03486.hp1 NA18971.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.1905+431A>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873018 | |||||||
| chr19:873019 | G | A | 3 | a0001c0002t0001g0022 a0001c0002t0002g0021 a0002c0003t0001g0009 |
3 | HG03486.hp1 NA18971.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.1905+430C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873019 | |||||||
| chr19:873023 | C | CAGGGCTC others(191): Show |
1 | a0002c0020t0001g0008 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1905+425_1905+426i others(200): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873023 | |||||||
| chr19:873023 | C | G | 9 | a0001c0002t0001g0019 a0001c0002t0001g0023 a0001c0002t0001g0038 others(6): Show |
9 | HG01099.hp2 HG01258.hp2 HG03471.hp2 others(6): Show |
intron_variant | MODIFIER | c.1905+426G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873023 | |||||||
| chr19:873030 | C | A | 1 | a0001c0015t0001g0030 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1905+419G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873030 | |||||||
| chr19:873031 | C | G | 1 | a0001c0015t0001g0030 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1905+418G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873031 | |||||||
| chr19:873034 | G | A | 1 | a0001c0015t0001g0030 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1905+415C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873034 | |||||||
| chr19:873034 | GGTGGGGC others(119): Show |
G | 4 | a0001c0002t0001g0019 a0001c0002t0001g0038 a0001c0002t0001g0048 others(1): Show |
4 | HG01099.hp1 NA18970.hp1 NA18973.hp2 others(1): Show |
intron_variant | MODIFIER | c.1905+289_1905+414d others(2): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873034 | |||||||
| chr19:873036 | T | G | 4 | a0001c0002t0001g0023 a0001c0006t0001g0035 a0001c0006t0001g0036 others(1): Show |
4 | HG03471.hp1 HG03471.hp2 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.1905+413A>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873036 | |||||||
| chr19:873037 | G | A | 4 | a0001c0002t0001g0023 a0001c0006t0001g0035 a0001c0006t0001g0036 others(1): Show |
4 | HG03471.hp1 HG03471.hp2 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.1905+412C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873037 | |||||||
| chr19:873037 | G | GGGGGAGG others(11): Show |
1 | a0002c0023t0001g0005 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1905+411_1905+412i others(20): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873037 | |||||||
| chr19:873037 | G | GGGGGAGG others(83): Show |
3 | a0001c0002t0001g0028 a0001c0002t0001g0029 a0007c0009t0007g0027 |
3 | HG02735.hp1 HG03239.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.1905+411_1905+412i others(92): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873037 | |||||||
| chr19:873041 | C | CAGGGCTC others(317): Show |
1 | a0001c0001t0008g0056 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1905+407_1905+408i others(326): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873041 | |||||||
| chr19:873041 | C | G | 23 | a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0050 others(20): Show |
23 | HG00609.hp1 HG00673.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.1905+408G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873041 | |||||||
| chr19:873052 | GGTGGGGC others(80): Show |
G | 1 | a0001c0015t0001g0030 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1905+310_1905+396d others(89): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873052 | |||||||
| chr19:873052 | GGTGGGGC others(101): Show |
G | 1 | a0001c0002t0001g0026 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.1905+289_1905+396d others(2): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873052 | |||||||
| chr19:873053 | GTGGGGCA others(65): Show |
G | 1 | a0002c0003t0001g0012 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1905+324_1905+395d others(74): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873053 | |||||||
| chr19:873054 | T | G | 1 | a0001c0002t0002g0020 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1905+395A>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873054 | |||||||
| chr19:873055 | G | A | 1 | a0001c0002t0002g0020 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1905+394C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873055 | |||||||
| chr19:873057 | G | A | 1 | a0006c0011t0001g0049 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1905+392C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873057 | |||||||
| chr19:873059 | C | G | 10 | a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0008g0056 others(7): Show |
10 | HG01978.hp2 HG02451.hp1 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.1905+390G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873059 | |||||||
| chr19:873059 | CAGGGCTC others(11): Show |
C | 3 | a0002c0003t0001g0006 a0002c0003t0001g0017 a0002c0007t0001g0010 |
3 | HG00673.hp1 HG01070.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.1905+372_1905+389d others(20): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873059 | |||||||
| chr19:873070 | GGTGGGGG others(101): Show |
G | 3 | a0001c0004t0001g0054 a0001c0014t0003g0002 a0009c0024t0003g0001 |
3 | HG02735.hp2 HG04199.hp1 NA18970.hp2 |
intron_variant | MODIFIER | c.1905+271_1905+378d others(2): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873070 | |||||||
| chr19:873075 | G | A | 1 | a0005c0021t0001g0004 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.1905+374C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873075 | |||||||
| chr19:873077 | G | C | 2 | a0001c0001t0001g0039 a0005c0021t0001g0004 |
2 | HG01258.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1905+372C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873077 | |||||||
| chr19:873077 | GAGGGCTC others(47): Show |
G | 1 | a0006c0011t0001g0049 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1905+318_1905+371d others(56): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873077 | |||||||
| chr19:873088 | GGTGGGGG others(65): Show |
G | 1 | a0002c0008t0001g0018 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.1905+289_1905+360d others(74): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873088 | |||||||
| chr19:873089 | GTGGGGGA others(29): Show |
G | 1 | a0002c0003t0001g0033 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1905+324_1905+359d others(38): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873089 | |||||||
| chr19:873091 | G | GGGGCAGG others(191): Show |
1 | a0002c0003t0001g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1905+357_1905+358i others(200): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873091 | |||||||
| chr19:873091 | G | GGGGGAGG others(83): Show |
1 | a0001c0001t0001g0039 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1905+357_1905+358i others(92): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873091 | |||||||
| chr19:873095 | G | C | 11 | a0001c0001t0001g0046 a0001c0006t0001g0035 a0001c0006t0001g0036 others(8): Show |
11 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(8): Show |
intron_variant | MODIFIER | c.1905+354C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873095 | |||||||
| chr19:873095 | G | GAGGGCTC others(137): Show |
1 | a0001c0013t0001g0034 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1905+353_1905+354i others(146): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873095 | |||||||
| chr19:873095 | GAGGGCTC others(29): Show |
G | 1 | a0005c0021t0001g0004 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.1905+318_1905+353d others(38): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873095 | |||||||
| chr19:873109 | G | GGGGGAGG others(101): Show |
1 | a0001c0002t0001g0023 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1905+339_1905+340i others(110): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873109 | |||||||
| chr19:873111 | G | A | 3 | a0002c0003t0001g0006 a0002c0003t0001g0017 a0002c0007t0001g0010 |
3 | HG00673.hp1 HG01070.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.1905+338C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873111 | |||||||
| chr19:873111 | G | GGCAGGGC others(11): Show |
1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1905+337_1905+338i others(20): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873111 | |||||||
| chr19:873113 | C | G | 13 | a0001c0001t0001g0055 a0001c0002t0001g0028 a0001c0002t0001g0029 others(10): Show |
13 | HG01978.hp2 HG02004.hp1 HG02735.hp1 others(10): Show |
intron_variant | MODIFIER | c.1905+336G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873113 | |||||||
| chr19:873125 | A | G | 22 | a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0001t0008g0056 others(19): Show |
22 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.1905+324T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873125 | |||||||
| chr19:873127 | G | GGGGGAGG others(227): Show |
1 | a0001c0002t0002g0020 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1905+321_1905+322i others(236): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873127 | |||||||
| chr19:873127 | G | GGGGGAGG others(101): Show |
1 | a0001c0002t0002g0021 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.1905+321_1905+322i others(110): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873127 | |||||||
| chr19:873127 | G | GGGGGAGG others(295): Show |
1 | a0001c0002t0001g0022 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1905+321_1905+322i others(304): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873127 | |||||||
| chr19:873127 | G | GGGGGAGG others(137): Show |
3 | a0001c0002t0001g0028 a0001c0002t0001g0029 a0007c0009t0007g0027 |
3 | HG02735.hp1 HG03239.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.1905+321_1905+322i others(146): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873127 | |||||||
| chr19:873131 | C | CAGGGCTC others(11): Show |
1 | a0001c0004t0001g0015 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1905+317_1905+318i others(20): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873131 | |||||||
| chr19:873131 | C | G | 6 | a0002c0003t0001g0006 a0002c0003t0001g0017 a0002c0007t0001g0010 others(3): Show |
6 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(3): Show |
intron_variant | MODIFIER | c.1905+318G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873131 | |||||||
| chr19:873138 | C | A | 1 | a0001c0017t0001g0003 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1905+311G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873138 | |||||||
| chr19:873139 | C | G | 1 | a0001c0017t0001g0003 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1905+310G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873139 | |||||||
| chr19:873142 | G | A | 2 | a0001c0015t0001g0030 a0001c0017t0001g0003 |
2 | HG02451.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1905+307C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873142 | |||||||
| chr19:873142 | GGTGGGGC others(11): Show |
G | 1 | a0001c0004t0001g0015 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1905+289_1905+306d others(20): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873142 | |||||||
| chr19:873143 | G | A | 1 | a0001c0001t0001g0055 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.1905+306C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873143 | |||||||
| chr19:873149 | C | CAGGGCTC others(101): Show |
1 | a0001c0001t0001g0050 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.1905+299_1905+300i others(110): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873149 | |||||||
| chr19:873149 | C | G | 1 | a0001c0002t0001g0023 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1905+300G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873149 | |||||||
| chr19:873155 | T | TCCGAGGT others(5): Show |
1 | a0001c0001t0008g0056 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1905+293_1905+294i others(14): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873155 | |||||||
| chr19:873155 | T | TCCGAGGT others(5): Show |
6 | a0001c0002t0001g0022 a0001c0002t0001g0028 a0001c0002t0001g0029 others(3): Show |
6 | HG01978.hp2 HG02735.hp1 HG03239.hp1 others(3): Show |
intron_variant | MODIFIER | c.1905+293_1905+294i others(14): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873155 | |||||||
| chr19:873156 | A | C | 6 | a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0002t0001g0023 others(3): Show |
6 | HG02004.hp1 HG03471.hp1 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1905+293T>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873156 | |||||||
| chr19:873157 | G | C | 6 | a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0002t0001g0023 others(3): Show |
6 | HG02004.hp1 HG03471.hp1 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1905+292C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873157 | |||||||
| chr19:873157 | G | GGGCTCC | 7 | a0001c0001t0008g0056 a0001c0002t0001g0022 a0001c0002t0001g0028 others(4): Show |
7 | HG01978.hp2 HG02735.hp1 HG03239.hp1 others(4): Show |
intron_variant | MODIFIER | c.1905+291_1905+292i others(8): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873157 | |||||||
| chr19:873160 | A | G | 13 | a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0001t0008g0056 others(10): Show |
13 | HG01978.hp2 HG02004.hp1 HG02735.hp1 others(10): Show |
intron_variant | MODIFIER | c.1905+289T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873160 | |||||||
| chr19:873174 | A | C | 1 | a0001c0004t0001g0015 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1905+275T>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873174 | |||||||
| chr19:873175 | G | C | 1 | a0001c0004t0001g0015 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1905+274C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873175 | |||||||
| chr19:873178 | A | G | 1 | a0001c0004t0001g0015 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1905+271T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873178 | |||||||
| chr19:873248 | GGGACTCC others(75): Show |
G | 1 | a0001c0002t0001g0019 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.1905+119_1905+200d others(84): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873248 | |||||||
| chr19:873258 | C | G | 36 | a0001c0001t0001g0039 a0001c0001t0008g0056 a0001c0002t0001g0022 others(33): Show |
36 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(33): Show |
intron_variant | MODIFIER | c.1905+191G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873258 | |||||||
| chr19:873259 | CAGGGGCG others(76): Show |
C | 2 | a0001c0002t0001g0026 a0002c0008t0001g0018 |
2 | HG00673.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.1905+107_1905+189d others(85): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873259 | |||||||
| chr19:873262 | GGGCGGGG others(4): Show |
G | 1 | a0002c0003t0001g0012 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1905+176_1905+186d others(13): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873262 | |||||||
| chr19:873276 | T | TGGGACTC others(29): Show |
1 | a0001c0001t0001g0047 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.1905+137_1905+172d others(38): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873276 | |||||||
| chr19:873294 | C | CGGGGCTG others(4): Show |
1 | a0002c0003t0001g0012 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1905+154_1905+155i others(13): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873294 | |||||||
| chr19:873306 | T | C | 1 | a0002c0003t0001g0012 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1905+143A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873306 | |||||||
| chr19:873308 | GGGGCGGG others(10): Show |
G | 1 | a0001c0002t0001g0022 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1905+124_1905+140d others(19): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873308 | |||||||
| chr19:873323 | GTAGGGGC others(11): Show |
G | 31 | a0001c0001t0001g0039 a0001c0001t0008g0056 a0001c0002t0001g0023 others(28): Show |
31 | HG00673.hp1 HG01070.hp1 HG01099.hp1 others(28): Show |
intron_variant | MODIFIER | c.1905+108_1905+125d others(20): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873323 | |||||||
| chr19:873341 | C | G | 3 | a0001c0002t0001g0019 a0001c0002t0001g0022 a0002c0003t0001g0012 |
3 | HG03486.hp2 NA18973.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.1905+108G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873341 | |||||||
| chr19:873342 | T | C | 1 | a0001c0002t0001g0019 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.1905+107A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873342 | |||||||
| chr19:873386 | C | CG | 6 | a0001c0002t0001g0019 a0001c0002t0001g0023 a0001c0006t0001g0035 others(3): Show |
6 | HG00673.hp1 HG02809.hp2 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.1905+62dupC | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | 873386 | |||||||
| chr19:873739 | G | A | 1 | a0002c0003t0001g0033 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1772-157C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 10/15 | chr19 | 873739 | |||||||
| chr19:873743 | G | A | 16 | a0001c0015t0001g0030 a0001c0017t0001g0003 a0002c0003t0001g0006 others(13): Show |
16 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(13): Show |
intron_variant | MODIFIER | c.1772-161C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 10/15 | chr19 | 873743 | |||||||
| chr19:873774 | C | A | 2 | a0001c0015t0001g0030 a0001c0017t0001g0003 |
2 | HG02451.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1772-192G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 10/15 | chr19 | 873774 | |||||||
| chr19:873776 | C | T | 1 | a0001c0001t0008g0056 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1772-194G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 10/15 | chr19 | 873776 | |||||||
| chr19:873832 | G | A | 2 | a0001c0015t0001g0030 a0001c0017t0001g0003 |
2 | HG02451.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1772-250C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 10/15 | chr19 | 873832 | |||||||
| chr19:873930 | A | C | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1772-348T>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 10/15 | chr19 | 873930 | |||||||
| chr19:873941 | G | A | 1 | a0005c0021t0001g0004 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.1772-359C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 10/15 | chr19 | 873941 | |||||||
| chr19:874130 | TTGAGACA others(15): Show |
T | 4 | a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0003t0001g0033 others(1): Show |
4 | HG02809.hp2 HG03453.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1772-570_1772-549d others(24): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 10/15 | chr19 | 874130 | |||||||
| chr19:874279 | G | C | 1 | a0001c0002t0001g0026 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.1772-697C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 10/15 | chr19 | 874279 | |||||||
| chr19:874647 | G | C | 10 | a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0009 others(7): Show |
10 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(7): Show |
intron_variant | MODIFIER | c.1771+597C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 10/15 | chr19 | 874647 | |||||||
| chr19:874658 | G | A | 11 | a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0009 others(8): Show |
11 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(8): Show |
intron_variant | MODIFIER | c.1771+586C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 10/15 | chr19 | 874658 | |||||||
| chr19:874779 | G | C | 1 | a0002c0003t0001g0012 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1771+465C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 10/15 | chr19 | 874779 | |||||||
| chr19:874934 | G | A | 1 | a0001c0004t0001g0015 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1771+310C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 10/15 | chr19 | 874934 | |||||||
| chr19:874960 | C | T | 17 | a0001c0001t0001g0039 a0001c0001t0008g0056 a0001c0002t0001g0019 others(14): Show |
17 | HG00673.hp2 HG01099.hp1 HG01978.hp1 others(14): Show |
intron_variant | MODIFIER | c.1771+284G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 10/15 | chr19 | 874960 | |||||||
| chr19:875616 | G | A | 1 | a0002c0023t0001g0005 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1561-162C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 875616 | |||||||
| chr19:875902 | G | A | 14 | a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0009 others(11): Show |
14 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(11): Show |
intron_variant | MODIFIER | c.1561-448C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 875902 | |||||||
| chr19:875909 | G | A | 3 | a0001c0006t0001g0035 a0001c0006t0001g0036 a0001c0013t0001g0034 |
3 | HG03471.hp1 HG03471.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1561-455C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 875909 | |||||||
| chr19:876083 | G | C | 1 | a0002c0020t0001g0008 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1561-629C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876083 | |||||||
| chr19:876357 | C | T | 2 | a0002c0003t0001g0006 a0004c0019t0001g0016 |
2 | HG01070.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.1560+617G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876357 | |||||||
| chr19:876604 | C | T | 15 | a0001c0002t0001g0019 a0001c0002t0001g0023 a0001c0002t0001g0028 others(12): Show |
15 | HG00673.hp2 HG01099.hp1 HG02735.hp1 others(12): Show |
intron_variant | MODIFIER | c.1560+370G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876604 | |||||||
| chr19:876641 | T | C | 14 | a0001c0001t0001g0039 a0001c0001t0001g0043 a0002c0003t0001g0006 others(11): Show |
14 | HG00609.hp1 HG00673.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.1560+333A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876641 | |||||||
| chr19:876738 | C | T | 1 | a0002c0023t0001g0005 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1560+236G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876738 | |||||||
| chr19:876882 | C | A | 7 | a0002c0003t0001g0006 a0002c0003t0001g0012 a0002c0003t0001g0017 others(4): Show |
7 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.1560+92G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876882 | |||||||
| chr19:876897 | G | GC | 8 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0028 others(5): Show |
8 | HG00673.hp2 HG01978.hp2 HG02735.hp1 others(5): Show |
intron_variant | MODIFIER | c.1560+76dupG | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876897 | |||||||
| chr19:876897 | G | GCCCCACC others(28): Show |
1 | a0001c0002t0001g0048 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1560+76_1560+77ins others(35): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876897 | |||||||
| chr19:876897 | G | GCCCCCAC others(11): Show |
1 | a0001c0001t0001g0047 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.1560+76_1560+77ins others(18): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876897 | |||||||
| chr19:876910 | C | T | 15 | a0001c0015t0001g0030 a0001c0017t0001g0003 a0002c0003t0001g0006 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.1560+64G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876910 | |||||||
| chr19:876911 | G | A | 1 | a0002c0008t0001g0018 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.1560+63C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876911 | |||||||
| chr19:876911 | G | GGGGCCCC others(28): Show |
2 | a0001c0002t0001g0038 a0003c0010t0001g0037 |
2 | HG01099.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.1560+62_1560+63ins others(35): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876911 | |||||||
| chr19:876911 | G | GGGGCCCC others(11): Show |
2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1560+45_1560+62dup others(18): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876911 | |||||||
| chr19:876928 | CA | C | 3 | a0001c0002t0001g0038 a0001c0002t0001g0048 a0003c0010t0001g0037 |
3 | HG01099.hp1 NA18970.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.1560+45delT | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876928 | |||||||
| chr19:876929 | A | G | 2 | a0001c0002t0002g0021 a0002c0008t0001g0018 |
2 | HG00673.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.1560+45T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876929 | |||||||
| chr19:876933 | C | CCCCACCT others(9): Show |
1 | a0002c0008t0001g0018 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.1560+40_1560+41ins others(16): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876933 | |||||||
| chr19:876933 | C | CCCCCACC others(28): Show |
1 | a0001c0002t0002g0021 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.1560+40_1560+41ins others(35): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876933 | |||||||
| chr19:876933 | C | CCCCCACC others(10): Show |
9 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0026 others(6): Show |
9 | HG01978.hp1 HG01978.hp2 HG02735.hp1 others(6): Show |
intron_variant | MODIFIER | c.1560+24_1560+40dup others(17): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876933 | |||||||
| chr19:876933 | C | G | 3 | a0001c0002t0001g0038 a0001c0002t0001g0048 a0003c0010t0001g0037 |
3 | HG01099.hp1 NA18970.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.1560+41G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876933 | |||||||
| chr19:876950 | G | C | 1 | a0002c0008t0001g0018 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.1560+24C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 9/15 | chr19 | 876950 | |||||||
| chr19:877229 | C | T | 1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1354-49G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877229 | |||||||
| chr19:877295 | C | CCT | 16 | a0001c0015t0001g0030 a0001c0017t0001g0003 a0002c0003t0001g0006 others(13): Show |
16 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(13): Show |
intron_variant | MODIFIER | c.1354-116_1354-115i others(4): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877295 | |||||||
| chr19:877437 | G | C | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.1354-257C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877437 | |||||||
| chr19:877516 | A | G | 30 | a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 others(27): Show |
30 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(27): Show |
intron_variant | MODIFIER | c.1354-336T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877516 | |||||||
| chr19:877576 | C | CAGGGGCT others(15): Show |
1 | a0002c0003t0001g0009 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1354-397_1354-396i others(24): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877576 | |||||||
| chr19:877576 | C | CAGGGGCT others(26): Show |
10 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(7): Show |
10 | HG00673.hp1 HG01070.hp1 HG01258.hp2 others(7): Show |
intron_variant | MODIFIER | c.1354-397_1354-396i others(35): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877576 | |||||||
| chr19:877576 | C | CAGGGGCT others(37): Show |
4 | a0002c0003t0001g0012 a0002c0007t0001g0014 a0004c0019t0001g0016 others(1): Show |
4 | HG01099.hp2 HG02809.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.1354-397_1354-396i others(46): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877576 | |||||||
| chr19:877617 | G | A | 1 | a0001c0001t0008g0056 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1354-437C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877617 | |||||||
| chr19:877718 | T | A | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.1354-538A>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877718 | |||||||
| chr19:877741 | A | G | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.1354-561T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877741 | |||||||
| chr19:877753 | T | C | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.1354-573A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877753 | |||||||
| chr19:877765 | A | C | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.1354-585T>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877765 | |||||||
| chr19:877777 | C | CCCACGTG others(269): Show |
2 | a0002c0003t0001g0033 a0002c0022t0001g0011 |
2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1354-598_1354-597i others(278): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877777 | |||||||
| chr19:877777 | C | CCCACGTG others(325): Show |
10 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(7): Show |
10 | HG00673.hp1 HG01070.hp1 HG01258.hp2 others(7): Show |
intron_variant | MODIFIER | c.1354-598_1354-597i others(334): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877777 | |||||||
| chr19:877780 | A | ACGT | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1354-601_1354-600i others(5): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877780 | |||||||
| chr19:877780 | A | ACGTGCCC others(261): Show |
1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1354-601_1354-600i others(270): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877780 | |||||||
| chr19:877788 | C | CAGCTCGC others(116): Show |
2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1354-609_1354-608i others(125): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877788 | |||||||
| chr19:877792 | A | T | 1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1354-612T>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877792 | |||||||
| chr19:877815 | G | A | 1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1354-635C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877815 | |||||||
| chr19:877815 | G | GCCTTCCC others(25): Show |
2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1354-636_1354-635i others(34): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877815 | |||||||
| chr19:877823 | G | C | 1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1354-643C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877823 | |||||||
| chr19:877843 | A | G | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-663T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877843 | |||||||
| chr19:877844 | G | C | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-664C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877844 | |||||||
| chr19:877848 | A | G | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1354-668T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877848 | |||||||
| chr19:877856 | A | G | 3 | a0002c0007t0001g0014 a0004c0019t0001g0016 a0008c0018t0006g0013 |
3 | HG01099.hp2 HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1354-676T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877856 | |||||||
| chr19:877871 | G | A | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-691C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877871 | |||||||
| chr19:877879 | C | G | 1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1354-699G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877879 | |||||||
| chr19:877891 | G | T | 12 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(9): Show |
12 | HG00673.hp1 HG01070.hp1 HG01258.hp2 others(9): Show |
intron_variant | MODIFIER | c.1354-711C>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877891 | |||||||
| chr19:877899 | G | A | 1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1354-719C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877899 | |||||||
| chr19:877900 | C | G | 1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1354-720G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877900 | |||||||
| chr19:877901 | C | CCCAGCCG others(394): Show |
1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-722_1354-721i others(403): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877901 | |||||||
| chr19:877904 | A | T | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1354-724T>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877904 | |||||||
| chr19:877935 | G | C | 3 | a0001c0001t0001g0043 a0002c0007t0001g0014 a0008c0018t0006g0013 |
3 | HG00609.hp1 HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1354-755C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877935 | |||||||
| chr19:877963 | C | CCCACATG others(93): Show |
1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-784_1354-783i others(102): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877963 | |||||||
| chr19:877963 | C | CCCAGCCC others(99): Show |
2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1354-784_1354-783i others(108): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 877963 | |||||||
| chr19:878000 | T | C | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-820A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878000 | |||||||
| chr19:878003 | G | C | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-823C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878003 | |||||||
| chr19:878014 | C | T | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-834G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878014 | |||||||
| chr19:878019 | ACCAGCC | A | 15 | a0001c0001t0001g0043 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00609.hp1 HG00673.hp1 HG01070.hp1 others(12): Show |
intron_variant | MODIFIER | c.1354-845_1354-840d others(8): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878019 | |||||||
| chr19:878041 | C | A | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-861G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878041 | |||||||
| chr19:878057 | G | A | 16 | a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0022 others(13): Show |
16 | HG00609.hp1 HG00673.hp2 HG01099.hp1 others(13): Show |
intron_variant | MODIFIER | c.1354-877C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878057 | |||||||
| chr19:878069 | C | T | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-889G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878069 | |||||||
| chr19:878081 | C | A | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-901G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878081 | |||||||
| chr19:878115 | A | G | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-935T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878115 | |||||||
| chr19:878119 | A | G | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-939T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878119 | |||||||
| chr19:878141 | T | C | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-961A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878141 | |||||||
| chr19:878151 | A | G | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-971T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878151 | |||||||
| chr19:878159 | G | C | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.1354-979C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878159 | |||||||
| chr19:878178 | G | A | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-998C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878178 | |||||||
| chr19:878179 | A | G | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-999T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878179 | |||||||
| chr19:878180 | G | C | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-1000C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878180 | |||||||
| chr19:878200 | G | A | 2 | a0001c0001t0001g0043 a0008c0018t0006g0013 |
2 | HG00609.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1354-1020C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878200 | |||||||
| chr19:878231 | ACCAGCC | A | 23 | a0001c0001t0001g0039 a0001c0001t0008g0056 a0001c0002t0001g0019 others(20): Show |
23 | HG00673.hp2 HG01099.hp1 HG01978.hp1 others(20): Show |
intron_variant | MODIFIER | c.1354-1057_1354-105 others(10): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878231 | |||||||
| chr19:878248 | C | CCCCAGCA others(90): Show |
1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-1069_1354-106 others(101): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878248 | |||||||
| chr19:878261 | G | T | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-1081C>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878261 | |||||||
| chr19:878275 | G | A | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-1095C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878275 | |||||||
| chr19:878299 | A | ACCAGCCC others(61): Show |
31 | a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0042 others(28): Show |
31 | HG00609.hp2 HG00673.hp1 HG01070.hp1 others(28): Show |
intron_variant | MODIFIER | c.1354-1187_1354-112 others(72): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878299 | |||||||
| chr19:878299 | A | ACCAGCCC others(67): Show |
3 | a0001c0006t0001g0035 a0001c0006t0001g0036 a0001c0013t0001g0034 |
3 | HG03471.hp1 HG03471.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1354-1193_1354-112 others(78): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878299 | |||||||
| chr19:878339 | G | C | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-1159C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878339 | |||||||
| chr19:878343 | T | C | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-1163A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878343 | |||||||
| chr19:878365 | G | GCAGCTCA others(78): Show |
1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-1186_1354-118 others(89): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878365 | |||||||
| chr19:878367 | C | A | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-1187G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878367 | |||||||
| chr19:878384 | G | A | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-1204C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878384 | |||||||
| chr19:878404 | T | C | 3 | a0001c0001t0001g0043 a0002c0007t0001g0014 a0002c0023t0001g0005 |
3 | HG00609.hp1 HG02809.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.1354-1224A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878404 | |||||||
| chr19:878407 | C | G | 2 | a0002c0007t0001g0014 a0002c0023t0001g0005 |
2 | HG02809.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.1354-1227G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878407 | |||||||
| chr19:878420 | T | C | 3 | a0001c0001t0001g0043 a0002c0007t0001g0014 a0002c0023t0001g0005 |
3 | HG00609.hp1 HG02809.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.1354-1240A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878420 | |||||||
| chr19:878432 | A | AGCCCCAG others(73): Show |
1 | a0002c0007t0001g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1354-1253_1354-125 others(84): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878432 | |||||||
| chr19:878432 | A | AGCCCCG | 2 | a0001c0014t0003g0002 a0008c0018t0006g0013 |
2 | HG02735.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.1354-1258_1354-125 others(10): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878432 | |||||||
| chr19:878432 | A | AGCCCCGG others(5): Show |
5 | a0001c0017t0001g0003 a0002c0003t0001g0007 a0002c0003t0001g0009 others(2): Show |
5 | HG02451.hp2 HG02809.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.1354-1264_1354-125 others(16): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878432 | |||||||
| chr19:878432 | A | G | 7 | a0002c0003t0001g0006 a0002c0003t0001g0012 a0002c0003t0001g0017 others(4): Show |
7 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.1354-1252T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878432 | |||||||
| chr19:878437 | C | CACGTGCC others(30): Show |
1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-1258_1354-125 others(41): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878437 | |||||||
| chr19:878439 | G | C | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-1259C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878439 | |||||||
| chr19:878440 | C | G | 1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1354-1260G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878440 | |||||||
| chr19:878444 | G | A | 2 | a0001c0001t0001g0043 a0002c0023t0001g0005 |
2 | HG00609.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.1354-1264C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878444 | |||||||
| chr19:878450 | G | A | 2 | a0001c0001t0001g0043 a0002c0023t0001g0005 |
2 | HG00609.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.1354-1270C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878450 | |||||||
| chr19:878473 | A | G | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-1293T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878473 | |||||||
| chr19:878478 | C | T | 1 | a0002c0023t0001g0005 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1354-1298G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878478 | |||||||
| chr19:878485 | C | T | 2 | a0001c0001t0001g0043 a0002c0023t0001g0005 |
2 | HG00609.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.1354-1305G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878485 | |||||||
| chr19:878494 | C | T | 1 | a0002c0023t0001g0005 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1354-1314G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878494 | |||||||
| chr19:878498 | C | G | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-1318G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878498 | |||||||
| chr19:878502 | C | CTCGCCTT others(81): Show |
1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-1323_1354-132 others(92): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878502 | |||||||
| chr19:878506 | A | AGCCCCGG others(23): Show |
1 | a0002c0023t0001g0005 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1354-1327_1354-132 others(34): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878506 | |||||||
| chr19:878514 | G | A | 1 | a0001c0001t0001g0043 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1354-1334C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878514 | |||||||
| chr19:878537 | G | C | 2 | a0001c0001t0001g0043 a0002c0023t0001g0005 |
2 | HG00609.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.1354-1357C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878537 | |||||||
| chr19:878541 | T | C | 1 | a0002c0023t0001g0005 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1354-1361A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878541 | |||||||
| chr19:878553 | A | ACCAGCC | 3 | a0001c0001t0001g0039 a0001c0002t0001g0028 a0001c0002t0001g0029 |
3 | HG03239.hp1 HG03688.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1353+1378_1354-137 others(10): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878553 | |||||||
| chr19:878555 | C | CA | 3 | a0001c0002t0001g0019 a0001c0002t0001g0026 a0002c0008t0001g0018 |
3 | HG00673.hp2 NA18973.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.1354-1376dupT | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878555 | |||||||
| chr19:878559 | C | CCAGCCCC others(507): Show |
3 | a0001c0002t0001g0019 a0001c0002t0001g0026 a0002c0008t0001g0018 |
3 | HG00673.hp2 NA18973.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.1353+1377_1353+137 others(518): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878559 | |||||||
| chr19:878576 | A | G | 4 | a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0026 others(1): Show |
4 | HG00609.hp1 HG00673.hp2 NA18973.hp2 others(1): Show |
intron_variant | MODIFIER | c.1353+1361T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878576 | |||||||
| chr19:878598 | C | T | 13 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(10): Show |
13 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(10): Show |
intron_variant | MODIFIER | c.1353+1339G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878598 | |||||||
| chr19:878610 | C | T | 6 | a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0026 others(3): Show |
6 | HG00609.hp1 HG00673.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.1353+1327G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878610 | |||||||
| chr19:878612 | C | T | 4 | a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0026 others(1): Show |
4 | HG00609.hp1 HG00673.hp2 NA18973.hp2 others(1): Show |
intron_variant | MODIFIER | c.1353+1325G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878612 | |||||||
| chr19:878616 | CCAGCCA | C | 4 | a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0026 others(1): Show |
4 | HG00609.hp1 HG00673.hp2 NA18973.hp2 others(1): Show |
intron_variant | MODIFIER | c.1353+1315_1353+132 others(10): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878616 | |||||||
| chr19:878622 | A | C | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1353+1315T>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878622 | |||||||
| chr19:878625 | A | G | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1353+1312T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878625 | |||||||
| chr19:878626 | C | G | 4 | a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0026 others(1): Show |
4 | HG00609.hp1 HG00673.hp2 NA18973.hp2 others(1): Show |
intron_variant | MODIFIER | c.1353+1311G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878626 | |||||||
| chr19:878678 | A | C | 4 | a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0026 others(1): Show |
4 | HG00609.hp1 HG00673.hp2 NA18973.hp2 others(1): Show |
intron_variant | MODIFIER | c.1353+1259T>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878678 | |||||||
| chr19:878709 | G | A | 4 | a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0026 others(1): Show |
4 | HG00609.hp1 HG00673.hp2 NA18973.hp2 others(1): Show |
intron_variant | MODIFIER | c.1353+1228C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878709 | |||||||
| chr19:878721 | T | C | 19 | a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0026 others(16): Show |
19 | HG00609.hp1 HG00673.hp1 HG00673.hp2 others(16): Show |
intron_variant | MODIFIER | c.1353+1216A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878721 | |||||||
| chr19:878739 | G | GCCAGCCC others(291): Show |
4 | a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0026 others(1): Show |
4 | HG00609.hp1 HG00673.hp2 NA18973.hp2 others(1): Show |
intron_variant | MODIFIER | c.1353+1197_1353+119 others(302): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878739 | |||||||
| chr19:878765 | C | A | 4 | a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0026 others(1): Show |
4 | HG00609.hp1 HG00673.hp2 NA18973.hp2 others(1): Show |
intron_variant | MODIFIER | c.1353+1172G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878765 | |||||||
| chr19:878793 | G | A | 4 | a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0026 others(1): Show |
4 | HG00609.hp1 HG00673.hp2 NA18973.hp2 others(1): Show |
intron_variant | MODIFIER | c.1353+1144C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878793 | |||||||
| chr19:878794 | C | G | 4 | a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0026 others(1): Show |
4 | HG00609.hp1 HG00673.hp2 NA18973.hp2 others(1): Show |
intron_variant | MODIFIER | c.1353+1143G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878794 | |||||||
| chr19:878805 | C | T | 27 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0028 others(24): Show |
27 | HG00673.hp1 HG01070.hp1 HG01099.hp1 others(24): Show |
intron_variant | MODIFIER | c.1353+1132G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878805 | |||||||
| chr19:878821 | C | A | 5 | a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0026 others(2): Show |
5 | HG00609.hp1 HG00673.hp2 HG03540.hp2 others(2): Show |
intron_variant | MODIFIER | c.1353+1116G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878821 | |||||||
| chr19:878855 | G | A | 1 | a0001c0002t0001g0022 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1353+1082C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878855 | |||||||
| chr19:878913 | ACCAGCCC others(5): Show |
A | 3 | a0001c0002t0001g0019 a0001c0002t0001g0026 a0002c0008t0001g0018 |
3 | HG00673.hp2 NA18973.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.1353+1012_1353+102 others(16): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878913 | |||||||
| chr19:878916 | A | AGCCCCG | 4 | a0001c0002t0001g0038 a0001c0002t0001g0048 a0001c0005t0001g0052 others(1): Show |
4 | HG01099.hp1 NA18970.hp1 NA18973.hp1 others(1): Show |
intron_variant | MODIFIER | c.1353+1015_1353+102 others(10): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878916 | |||||||
| chr19:878916 | A | G | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1353+1021T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878916 | |||||||
| chr19:878916 | AGCCCCGG others(5): Show |
A | 8 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0028 others(5): Show |
8 | HG01978.hp2 HG02735.hp1 HG03239.hp1 others(5): Show |
intron_variant | MODIFIER | c.1353+1009_1353+102 others(16): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 878916 | |||||||
| chr19:879001 | C | G | 4 | a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0003t0001g0033 others(1): Show |
4 | HG02809.hp2 HG03453.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1353+936G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879001 | |||||||
| chr19:879047 | G | T | 1 | a0001c0001t0001g0046 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1353+890C>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879047 | |||||||
| chr19:879061 | ACCAGCC | A | 19 | a0001c0001t0001g0043 a0001c0002t0001g0019 a0001c0002t0001g0026 others(16): Show |
19 | HG00609.hp1 HG00673.hp1 HG00673.hp2 others(16): Show |
intron_variant | MODIFIER | c.1353+870_1353+875d others(8): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879061 | |||||||
| chr19:879067 | C | CCAGCCCC others(2534): Show |
1 | a0001c0001t0001g0053 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1353+869_1353+870i others(2543): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879067 | |||||||
| chr19:879087 | C | A | 1 | a0002c0022t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1353+850G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879087 | |||||||
| chr19:879121 | C | CCCCCAG | 3 | a0001c0006t0001g0035 a0001c0006t0001g0036 a0001c0013t0001g0034 |
3 | HG03471.hp1 HG03471.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1353+810_1353+815d others(8): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879121 | |||||||
| chr19:879123 | C | A | 5 | a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0002t0001g0019 others(2): Show |
5 | HG00609.hp1 HG00673.hp2 HG04199.hp2 others(2): Show |
intron_variant | MODIFIER | c.1353+814G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879123 | |||||||
| chr19:879123 | C | CCCAGCCC others(2533): Show |
1 | a0001c0001t0001g0047 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.1353+813_1353+814i others(2542): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879123 | |||||||
| chr19:879123 | C | CCCAGCCC others(2539): Show |
1 | a0001c0001t0001g0045 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1353+813_1353+814i others(2548): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879123 | |||||||
| chr19:879123 | C | CCCAGCCC others(2539): Show |
5 | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0051 others(2): Show |
5 | HG01256.hp1 HG01256.hp2 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.1353+813_1353+814i others(2548): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879123 | |||||||
| chr19:879123 | C | CCCAGCCC others(2539): Show |
1 | a0001c0005t0001g0041 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.1353+813_1353+814i others(2548): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879123 | |||||||
| chr19:879380 | G | C | 1 | a0002c0023t0001g0005 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1353+557C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879380 | |||||||
| chr19:879404 | T | TCCCTGGT others(241): Show |
5 | a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0002t0001g0019 others(2): Show |
5 | HG00609.hp1 HG00673.hp2 HG04199.hp2 others(2): Show |
intron_variant | MODIFIER | c.1353+532_1353+533i others(250): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(2669): Show |
3 | a0001c0006t0001g0035 a0001c0006t0001g0036 a0001c0013t0001g0034 |
3 | HG03471.hp1 HG03471.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1353+532_1353+533i others(2678): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(2785): Show |
1 | a0001c0001t0001g0050 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.1353+532_1353+533i others(2794): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(6552): Show |
1 | a0008c0018t0006g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1353+532_1353+533i others(6561): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(6553): Show |
1 | a0002c0007t0001g0014 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1353+532_1353+533i others(6562): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(2445): Show |
1 | a0001c0015t0001g0030 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1353+532_1353+533i others(2454): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(2725): Show |
1 | a0001c0001t0001g0039 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1353+532_1353+533i others(2734): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(2719): Show |
1 | a0001c0001t0008g0056 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1353+532_1353+533i others(2728): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(2563): Show |
1 | a0001c0001t0001g0055 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.1353+532_1353+533i others(2572): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(9185): Show |
1 | a0002c0022t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1353+532_1353+533i others(9194): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(8321): Show |
1 | a0002c0020t0001g0008 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1353+532_1353+533i others(8330): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(8315): Show |
1 | a0002c0003t0001g0009 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1353+532_1353+533i others(8324): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(8333): Show |
1 | a0002c0003t0001g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1353+532_1353+533i others(8342): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(6794): Show |
1 | a0002c0003t0001g0017 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1353+532_1353+533i others(6803): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(6800): Show |
1 | a0002c0007t0001g0010 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.1353+532_1353+533i others(6809): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(12008): Show |
1 | a0005c0021t0001g0004 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.1353+532_1353+533i others(12017): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(7097): Show |
1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1353+532_1353+533i others(7106): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(7041): Show |
1 | a0002c0003t0001g0006 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.1353+532_1353+533i others(7050): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(2725): Show |
1 | a0001c0002t0001g0038 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.1353+532_1353+533i others(2734): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(2725): Show |
6 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0028 others(3): Show |
6 | HG01978.hp2 HG03239.hp1 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.1353+532_1353+533i others(2734): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(2725): Show |
1 | a0007c0009t0007g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1353+532_1353+533i others(2734): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(2725): Show |
3 | a0001c0002t0001g0048 a0003c0010t0001g0037 a0006c0011t0001g0049 |
3 | HG01099.hp1 HG01978.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.1353+532_1353+533i others(2734): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(2731): Show |
1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1353+532_1353+533i others(2740): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(10002): Show |
1 | a0002c0003t0001g0033 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1353+532_1353+533i others(10011): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(2557): Show |
1 | a0001c0014t0003g0002 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1353+532_1353+533i others(2566): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(2613): Show |
2 | a0001c0004t0001g0015 a0001c0004t0001g0054 |
2 | HG03239.hp2 NA18970.hp2 |
intron_variant | MODIFIER | c.1353+532_1353+533i others(2622): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(2619): Show |
1 | a0009c0024t0003g0001 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1353+532_1353+533i others(2628): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(2787): Show |
1 | a0001c0001t0001g0046 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1353+532_1353+533i others(2796): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(2251): Show |
1 | a0001c0001t0001g0032 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.1353+532_1353+533i others(2260): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(10921): Show |
1 | a0002c0003t0001g0012 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1353+532_1353+533i others(10930): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCCCTGGT others(12445): Show |
1 | a0002c0023t0001g0005 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1353+532_1353+533i others(12454): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879404 | T | TCTCTGGT others(5302): Show |
1 | a0001c0017t0001g0003 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1353+532_1353+533i others(5311): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879404 | |||||||
| chr19:879439 | C | T | 5 | a0001c0001t0008g0056 a0001c0006t0001g0035 a0001c0006t0001g0036 others(2): Show |
5 | HG03453.hp1 HG03471.hp1 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.1353+498G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879439 | |||||||
| chr19:879483 | G | A | 1 | a0001c0014t0003g0002 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1353+454C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879483 | |||||||
| chr19:879628 | C | CCACGTGC others(113): Show |
11 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0012 others(8): Show |
11 | HG00673.hp1 HG01070.hp1 HG01258.hp2 others(8): Show |
intron_variant | MODIFIER | c.1353+308_1353+309i others(122): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879628 | |||||||
| chr19:879628 | C | CCACGTGC others(113): Show |
3 | a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0020t0001g0008 |
3 | HG02809.hp2 HG03453.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1353+308_1353+309i others(122): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879628 | |||||||
| chr19:879647 | A | GCCTTCCC others(113): Show |
1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1353+290_1353+291i others(122): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879647 | |||||||
| chr19:879649 | G | C | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.1353+288C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879649 | |||||||
| chr19:879847 | A | G | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.1353+90T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879847 | |||||||
| chr19:879887 | C | CTGGTTGT others(473): Show |
15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.1353+49_1353+50ins others(480): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | 879887 | |||||||
| chr19:880560 | G | A | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.1142-412C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 7/15 | chr19 | 880560 | |||||||
| chr19:880562 | G | A | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1142-414C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 7/15 | chr19 | 880562 | |||||||
| chr19:880594 | G | A | 1 | a0002c0003t0001g0033 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1142-446C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 7/15 | chr19 | 880594 | |||||||
| chr19:880602 | A | G | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.1142-454T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 7/15 | chr19 | 880602 | |||||||
| chr19:880630 | G | A | 1 | a0001c0017t0001g0003 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1142-482C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 7/15 | chr19 | 880630 | |||||||
| chr19:881049 | G | A | 15 | a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 others(12): Show |
15 | HG00673.hp2 HG01099.hp1 HG01978.hp1 others(12): Show |
intron_variant | MODIFIER | c.1141+510C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 7/15 | chr19 | 881049 | |||||||
| chr19:881094 | G | A | 15 | a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 others(12): Show |
15 | HG00673.hp2 HG01099.hp1 HG01978.hp1 others(12): Show |
intron_variant | MODIFIER | c.1141+465C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 7/15 | chr19 | 881094 | |||||||
| chr19:881161 | G | A | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.1141+398C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 7/15 | chr19 | 881161 | |||||||
| chr19:881413 | A | G | 40 | a0001c0001t0001g0039 a0001c0001t0008g0056 a0001c0002t0001g0019 others(37): Show |
40 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.1141+146T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 7/15 | chr19 | 881413 | |||||||
| chr19:881478 | C | T | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1141+81G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 7/15 | chr19 | 881478 | |||||||
| chr19:881835 | GCC | G | 4 | a0001c0002t0001g0019 a0001c0002t0001g0026 a0002c0008t0001g0018 others(1): Show |
4 | HG00673.hp2 HG03540.hp1 NA18973.hp2 others(1): Show |
intron_variant | MODIFIER | c.986-123_986-122del others(2): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 881835 | |||||||
| chr19:881862 | G | A | 1 | a0001c0001t0008g0056 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.986-148C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 881862 | |||||||
| chr19:882386 | GCACGCCT others(3): Show |
G | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.986-682_986-673del others(10): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 882386 | |||||||
| chr19:882481 | G | A | 2 | a0001c0001t0001g0039 a0001c0015t0001g0030 |
2 | HG02886.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.986-767C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 882481 | |||||||
| chr19:882567 | G | A | 1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.986-853C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 882567 | |||||||
| chr19:882676 | C | T | 1 | a0002c0003t0001g0017 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.986-962G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 882676 | |||||||
| chr19:882724 | G | C | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.986-1010C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 882724 | |||||||
| chr19:882939 | G | A | 15 | a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 others(12): Show |
15 | HG00673.hp2 HG01099.hp1 HG01978.hp1 others(12): Show |
intron_variant | MODIFIER | c.986-1225C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 882939 | |||||||
| chr19:882943 | A | G | 36 | a0001c0001t0001g0039 a0001c0001t0008g0056 a0001c0002t0001g0019 others(33): Show |
36 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(33): Show |
intron_variant | MODIFIER | c.986-1229T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 882943 | |||||||
| chr19:883025 | C | A | 1 | a0008c0018t0006g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.986-1311G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 883025 | |||||||
| chr19:883224 | A | G | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.986-1510T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 883224 | |||||||
| chr19:883314 | CGGTGGGT others(52): Show |
C | 1 | a0001c0002t0001g0023 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.985+1530_985+1588d others(61): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 883314 | |||||||
| chr19:883427 | T | A | 3 | a0001c0006t0001g0035 a0001c0006t0001g0036 a0001c0013t0001g0034 |
3 | HG03471.hp1 HG03471.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.985+1476A>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 883427 | |||||||
| chr19:883464 | A | G | 50 | a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 others(47): Show |
50 | HG00609.hp1 HG00673.hp1 HG00673.hp2 others(47): Show |
intron_variant | MODIFIER | c.985+1439T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 883464 | |||||||
| chr19:883491 | C | T | 1 | a0001c0001t0008g0056 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.985+1412G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 883491 | |||||||
| chr19:883492 | G | C | 1 | a0002c0003t0001g0009 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.985+1411C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 883492 | |||||||
| chr19:883540 | G | T | 1 | a0001c0004t0001g0054 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.985+1363C>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 883540 | |||||||
| chr19:883580 | T | A | 1 | a0001c0002t0001g0048 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.985+1323A>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 883580 | |||||||
| chr19:883725 | A | G | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.985+1178T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 883725 | |||||||
| chr19:883872 | G | A | 1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.985+1031C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 883872 | |||||||
| chr19:883968 | T | C | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.985+935A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 883968 | |||||||
| chr19:884197 | G | A | 4 | a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0003t0001g0033 others(1): Show |
4 | HG02809.hp2 HG03453.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.985+706C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 884197 | |||||||
| chr19:884515 | G | A | 1 | a0001c0005t0001g0052 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.985+388C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 884515 | |||||||
| chr19:884782 | C | G | 32 | a0001c0001t0001g0039 a0001c0002t0001g0019 a0001c0002t0001g0022 others(29): Show |
32 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(29): Show |
intron_variant | MODIFIER | c.985+121G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 884782 | |||||||
| chr19:884896 | G | A | 1 | a0001c0002t0001g0022 | 1 | NA19004.hp1 | splice_region_variant&intron_variant | LOW | c.985+7C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 6/15 | chr19 | 884896 | |||||||
| chr19:885118 | T | C | 15 | a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 others(12): Show |
15 | HG00673.hp2 HG01099.hp1 HG01978.hp1 others(12): Show |
intron_variant | MODIFIER | c.880-110A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 5/15 | chr19 | 885118 | |||||||
| chr19:885398 | G | C | 40 | a0001c0001t0001g0039 a0001c0001t0008g0056 a0001c0002t0001g0019 others(37): Show |
40 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.879+372C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 5/15 | chr19 | 885398 | |||||||
| chr19:885468 | G | T | 1 | a0006c0011t0001g0049 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.879+302C>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 5/15 | chr19 | 885468 | |||||||
| chr19:885556 | G | A | 1 | a0001c0004t0001g0054 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.879+214C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 5/15 | chr19 | 885556 | |||||||
| chr19:885706 | G | C | 15 | a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 others(12): Show |
15 | HG00673.hp2 HG01099.hp1 HG01978.hp1 others(12): Show |
intron_variant | MODIFIER | c.879+64C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 5/15 | chr19 | 885706 | |||||||
| chr19:886257 | A | G | 8 | a0001c0002t0001g0048 a0002c0003t0001g0006 a0002c0003t0001g0012 others(5): Show |
8 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(5): Show |
intron_variant | MODIFIER | c.448-56T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 886257 | |||||||
| chr19:886486 | G | T | 1 | a0001c0005t0001g0041 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.448-285C>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 886486 | |||||||
| chr19:886770 | G | T | 1 | a0001c0005t0001g0041 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.448-569C>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 886770 | |||||||
| chr19:886835 | G | A | 1 | a0001c0002t0001g0023 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.448-634C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 886835 | |||||||
| chr19:886936 | G | A | 1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.448-735C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 886936 | |||||||
| chr19:886945 | A | G | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.448-744T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 886945 | |||||||
| chr19:887096 | AG | A | 2 | a0001c0001t0001g0039 a0001c0015t0001g0030 |
2 | HG02886.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.448-896delC | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 887096 | |||||||
| chr19:887128 | A | G | 5 | a0002c0003t0001g0006 a0002c0003t0001g0017 a0002c0007t0001g0010 others(2): Show |
5 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(2): Show |
intron_variant | MODIFIER | c.448-927T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 887128 | |||||||
| chr19:887226 | G | T | 3 | a0001c0004t0001g0015 a0001c0014t0003g0002 a0009c0024t0003g0001 |
3 | HG02735.hp2 HG03239.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.448-1025C>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 887226 | |||||||
| chr19:887434 | G | A | 2 | a0001c0014t0003g0002 a0009c0024t0003g0001 |
2 | HG02735.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.448-1233C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 887434 | |||||||
| chr19:887727 | C | T | 1 | a0002c0012t0005g0025 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.448-1526G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 887727 | |||||||
| chr19:887824 | G | C | 30 | a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 others(27): Show |
30 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(27): Show |
intron_variant | MODIFIER | c.448-1623C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 887824 | |||||||
| chr19:887889 | G | C | 1 | a0001c0001t0001g0039 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.448-1688C>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 887889 | |||||||
| chr19:888161 | G | A | 1 | a0001c0001t0001g0046 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.447+1477C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 888161 | |||||||
| chr19:888384 | T | C | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.447+1254A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 888384 | |||||||
| chr19:888524 | CA | C | 29 | a0001c0001t0001g0040 a0001c0002t0001g0019 a0001c0002t0001g0022 others(26): Show |
29 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(26): Show |
intron_variant | MODIFIER | c.447+1113delT | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 888524 | |||||||
| chr19:888663 | T | C | 14 | a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0009 others(11): Show |
14 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(11): Show |
intron_variant | MODIFIER | c.447+975A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 888663 | |||||||
| chr19:889051 | T | TC | 14 | a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0009 others(11): Show |
14 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(11): Show |
intron_variant | MODIFIER | c.447+586dupG | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 889051 | |||||||
| chr19:889107 | ACTT | A | 2 | a0001c0001t0001g0047 a0001c0001t0008g0056 |
2 | HG03453.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.447+528_447+530del others(3): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 889107 | |||||||
| chr19:889257 | G | A | 1 | a0001c0001t0001g0051 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.447+381C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 889257 | |||||||
| chr19:889265 | C | T | 1 | a0001c0001t0001g0050 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.447+373G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 4/15 | chr19 | 889265 | |||||||
| chr19:890118 | C | T | 1 | a0001c0002t0001g0028 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.277+19G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 3/15 | chr19 | 890118 | |||||||
| chr19:890374 | G | A | 1 | a0001c0004t0001g0054 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.170-130C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 2/15 | chr19 | 890374 | |||||||
| chr19:890577 | G | A | 1 | a0002c0007t0001g0010 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.170-333C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 2/15 | chr19 | 890577 | |||||||
| chr19:890590 | G | A | 1 | a0001c0001t0001g0055 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.170-346C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 2/15 | chr19 | 890590 | |||||||
| chr19:890844 | A | G | 15 | a0001c0017t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0007 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.169+119T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 2/15 | chr19 | 890844 | |||||||
| chr19:891384 | G | A | 1 | a0001c0017t0001g0003 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-18-235C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 891384 | |||||||
| chr19:891578 | AGCCGAGG others(28): Show |
A | 1 | a0002c0022t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.-18-464_-18-430del others(35): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 891578 | |||||||
| chr19:891657 | G | GGGGGCTG others(140): Show |
1 | a0002c0023t0001g0005 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-18-509_-18-508ins others(147): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 891657 | |||||||
| chr19:891740 | C | G | 39 | a0001c0001t0001g0039 a0001c0001t0008g0056 a0001c0002t0001g0019 others(36): Show |
39 | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.-18-591G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 891740 | |||||||
| chr19:891789 | C | A | 2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.-18-640G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 891789 | |||||||
| chr19:891805 | G | A | 1 | a0002c0003t0001g0012 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.-18-656C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 891805 | |||||||
| chr19:891812 | A | T | 1 | a0008c0018t0006g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-18-663T>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 891812 | |||||||
| chr19:891843 | G | T | 1 | a0001c0017t0001g0003 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-18-694C>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 891843 | |||||||
| chr19:891879 | G | GGGGGCTG others(30): Show |
1 | a0001c0004t0001g0054 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.-18-767_-18-731dup others(37): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 891879 | |||||||
| chr19:891948 | C | G | 13 | a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0009 others(10): Show |
13 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(10): Show |
intron_variant | MODIFIER | c.-18-799G>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 891948 | |||||||
| chr19:892003 | T | C | 15 | a0001c0004t0001g0015 a0001c0014t0003g0002 a0001c0017t0001g0003 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.-18-854A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892003 | |||||||
| chr19:892003 | T | TGATGGGG others(68): Show |
2 | a0002c0007t0001g0014 a0008c0018t0006g0013 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.-18-855_-18-854ins others(75): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892003 | |||||||
| chr19:892042 | T | A | 1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.-18-893A>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892042 | |||||||
| chr19:892307 | T | C | 4 | a0001c0006t0001g0035 a0001c0006t0001g0036 a0001c0013t0001g0034 others(1): Show |
4 | HG03471.hp1 HG03471.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.-19+779A>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892307 | |||||||
| chr19:892615 | A | G | 17 | a0001c0004t0001g0015 a0001c0014t0003g0002 a0001c0017t0001g0003 others(14): Show |
17 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(14): Show |
intron_variant | MODIFIER | c.-19+471T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892615 | |||||||
| chr19:892655 | CTCTCCAG others(23): Show |
C | 16 | a0001c0004t0001g0015 a0001c0014t0003g0002 a0001c0017t0001g0003 others(13): Show |
16 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(13): Show |
intron_variant | MODIFIER | c.-19+401_-19+430del others(30): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892655 | |||||||
| chr19:892781 | G | A | 1 | a0004c0019t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.-19+305C>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892781 | |||||||
| chr19:892874 | A | AGCCCCGC others(7): Show |
1 | a0001c0013t0001g0034 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-19+211_-19+212ins others(14): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892874 | |||||||
| chr19:892874 | A | AGCCCCGC others(14): Show |
2 | a0001c0006t0001g0035 a0001c0006t0001g0036 |
2 | HG03471.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-19+211_-19+212ins others(21): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892874 | |||||||
| chr19:892874 | AGCCCCGA others(14): Show |
A | 1 | a0001c0001t0001g0039 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-19+191_-19+211del others(21): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892874 | |||||||
| chr19:892874 | AGCCCCGA others(21): Show |
A | 1 | a0003c0010t0001g0037 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.-19+184_-19+211del others(28): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892874 | |||||||
| chr19:892879 | C | T | 1 | a0002c0003t0001g0017 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.-19+207G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892879 | |||||||
| chr19:892881 | A | AGCCCCGC others(7): Show |
4 | a0001c0001t0001g0032 a0001c0001t0002g0031 a0001c0015t0001g0030 others(1): Show |
4 | HG00673.hp2 HG01070.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.-19+191_-19+204dup others(14): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892881 | |||||||
| chr19:892881 | A | C | 5 | a0001c0002t0001g0019 a0001c0006t0001g0035 a0001c0006t0001g0036 others(2): Show |
5 | HG03471.hp1 HG03471.hp2 HG03540.hp2 others(2): Show |
intron_variant | MODIFIER | c.-19+205T>G | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892881 | |||||||
| chr19:892881 | AGCCCCGC | A | 3 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 |
3 | HG02004.hp2 HG02451.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.-19+198_-19+204del others(7): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892881 | |||||||
| chr19:892881 | AGCCCCGC others(7): Show |
A | 11 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0008g0056 others(8): Show |
11 | HG00673.hp1 HG01256.hp1 HG01978.hp1 others(8): Show |
intron_variant | MODIFIER | c.-19+191_-19+204del others(14): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892881 | |||||||
| chr19:892881 | AGCCCCGC others(14): Show |
A | 19 | a0001c0001t0001g0053 a0001c0002t0001g0028 a0001c0002t0001g0029 others(16): Show |
19 | HG01070.hp1 HG01099.hp2 HG01258.hp2 others(16): Show |
intron_variant | MODIFIER | c.-19+184_-19+204del others(21): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892881 | |||||||
| chr19:892881 | AGCCCCGC others(21): Show |
A | 1 | a0001c0001t0001g0055 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.-19+177_-19+204del others(28): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892881 | |||||||
| chr19:892902 | C | A | 3 | a0001c0014t0003g0002 a0001c0017t0001g0003 a0002c0003t0001g0017 |
3 | HG00673.hp1 HG02451.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.-19+184G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892902 | |||||||
| chr19:892909 | C | A | 16 | a0001c0004t0001g0015 a0001c0014t0003g0002 a0002c0003t0001g0006 others(13): Show |
16 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(13): Show |
intron_variant | MODIFIER | c.-19+177G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892909 | |||||||
| chr19:892916 | C | A | 15 | a0001c0004t0001g0015 a0001c0014t0003g0002 a0002c0003t0001g0006 others(12): Show |
15 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.-19+170G>T | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892916 | |||||||
| chr19:892998 | C | T | 11 | a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 others(8): Show |
11 | HG00673.hp2 HG01978.hp2 HG02735.hp1 others(8): Show |
intron_variant | MODIFIER | c.-19+88G>A | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 892998 | |||||||
| chr19:893080 | A | G | 17 | a0001c0004t0001g0015 a0001c0014t0003g0002 a0001c0017t0001g0003 others(14): Show |
17 | HG00673.hp1 HG01070.hp1 HG01099.hp2 others(14): Show |
splice_region_variant&intron_variant | LOW | c.-19+6T>C | MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | 893080 |