Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 548644 |
| ensemblid | ENSG00000285437.2 |
| hgncid | 33853 |
| symbol | POLR2J3 |
| name | RNA polymerase II subunit J3 |
| refseq_nuc | NM_001097615.3 |
| refseq_prot | NP_001091084.2 |
| ensembl_nuc | ENST00000621093.5 |
| ensembl_prot | ENSP00000483328.1 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 102566966 |
| end | 102572583 |
| strand | - |
| ver | v1.2 |
| region | chr7:102566966-102572583 |
| region5000 | chr7:102561966-102577583 |
| regionname0 | POLR2J3_chr7_102566966_102572583 |
| regionname5000 | POLR2J3_chr7_102561966_102577583 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 115 | 24 | 4 | 2 | 16 | 0 | 2 | 15 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | MNAPP others(110): Show |
chr7 | 102561966 | 102577583 |
| a0002 | 0/0 | 115 | 18 | 0 | 1 | 17 | 0 | 0 | 16 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | MNAPP others(110): Show |
chr7 | 102561966 | 102577583 |
| a0003 | 0/0 | 115 | 16 | 0 | 1 | 14 | 0 | 1 | 14 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | MNAPP others(110): Show |
chr7 | 102561966 | 102577583 |
| a0004 | 0/0 | 115 | 5 | 0 | 0 | 4 | 0 | 1 | 4 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | MNAPP others(110): Show |
chr7 | 102561966 | 102577583 |
| a0005 | 0/0 | 115 | 4 | 0 | 0 | 4 | 0 | 0 | 4 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | MNAPP others(110): Show |
chr7 | 102561966 | 102577583 |
| a0006 | 0/0 | 115 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | MNAPP others(110): Show |
chr7 | 102561966 | 102577583 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002 | 0/0 | 345 | 14 | 1 | 1 | 10 | 0 | 2 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATGAA others(340): Show |
chr7 | 102561966 | 102577583 | ||
| a0001c0006 | 0/0 | 345 | 4 | 2 | 0 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATGAA others(340): Show |
chr7 | 102561966 | 102577583 | ||
| a0001c0007 | 0/0 | 345 | 4 | 1 | 0 | 3 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATGAA others(340): Show |
chr7 | 102561966 | 102577583 | ||
| a0001c0010 | 0/0 | 345 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATGAA others(340): Show |
chr7 | 102561966 | 102577583 | ||
| a0001c0011 | 0/0 | 345 | 1 | 0 | 1 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATGAA others(340): Show |
chr7 | 102561966 | 102577583 | ||
| a0002c0003 | 0/0 | 345 | 13 | 0 | 1 | 12 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATGAA others(340): Show |
chr7 | 102561966 | 102577583 | ||
| a0002c0004 | 0/0 | 345 | 5 | 0 | 0 | 5 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATGAA others(340): Show |
chr7 | 102561966 | 102577583 | ||
| a0003c0001 | 0/0 | 345 | 16 | 0 | 1 | 14 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATGAA others(340): Show |
chr7 | 102561966 | 102577583 | ||
| a0004c0005 | 0/0 | 345 | 5 | 0 | 0 | 4 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATGAA others(340): Show |
chr7 | 102561966 | 102577583 | ||
| a0005c0008 | 0/0 | 345 | 4 | 0 | 0 | 4 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATGAA others(340): Show |
chr7 | 102561966 | 102577583 | ||
| a0006c0009 | 0/0 | 345 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATGAA others(340): Show |
chr7 | 102561966 | 102577583 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0001 | 0/0 | 495 | 14 | 1 | 1 | 10 | 0 | 2 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATTAG others(490): Show |
chr7 | 102561966 | 102577583 |
| a0001c0006t0001 | 0/0 | 495 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATTAG others(490): Show |
chr7 | 102561966 | 102577583 |
| a0001c0006t0002 | 0/0 | 495 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATTAG others(490): Show |
chr7 | 102561966 | 102577583 |
| a0001c0006t0003 | 0/0 | 495 | 2 | 0 | 0 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATTAG others(490): Show |
chr7 | 102561966 | 102577583 |
| a0001c0007t0001 | 0/0 | 495 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATTAG others(490): Show |
chr7 | 102561966 | 102577583 |
| a0001c0007t0002 | 0/0 | 495 | 3 | 0 | 0 | 3 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATTAG others(490): Show |
chr7 | 102561966 | 102577583 |
| a0001c0010t0003 | 0/0 | 495 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATTAG others(490): Show |
chr7 | 102561966 | 102577583 |
| a0001c0011t0004 | 0/0 | 495 | 1 | 0 | 1 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATTAG others(490): Show |
chr7 | 102561966 | 102577583 |
| a0002c0003t0001 | 0/0 | 495 | 11 | 0 | 1 | 10 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATTAG others(490): Show |
chr7 | 102561966 | 102577583 |
| a0002c0003t0002 | 0/0 | 495 | 2 | 0 | 0 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATTAG others(490): Show |
chr7 | 102561966 | 102577583 |
| a0002c0004t0001 | 0/0 | 495 | 5 | 0 | 0 | 5 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATTAG others(490): Show |
chr7 | 102561966 | 102577583 |
| a0003c0001t0002 | 0/0 | 495 | 16 | 0 | 1 | 14 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATTAG others(490): Show |
chr7 | 102561966 | 102577583 |
| a0004c0005t0001 | 0/0 | 495 | 3 | 0 | 0 | 2 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATTAG others(490): Show |
chr7 | 102561966 | 102577583 |
| a0004c0005t0003 | 0/0 | 495 | 2 | 0 | 0 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATTAG others(490): Show |
chr7 | 102561966 | 102577583 |
| a0005c0008t0001 | 0/0 | 495 | 4 | 0 | 0 | 4 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATTAG others(490): Show |
chr7 | 102561966 | 102577583 |
| a0006c0009t0001 | 0/0 | 495 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | ATTAG others(490): Show |
chr7 | 102561966 | 102577583 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0001g0006 | 0/0 | 3 | 0 | 1 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0001c0002t0001g0007 | 0/0 | 3 | 0 | 0 | 2 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0001c0002t0001g0008 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0001c0002t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0001c0002t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0001c0002t0001g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0001c0002t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0001c0002t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0001c0006t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0001c0006t0002g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0001c0006t0003g0011 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0001c0007t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0001c0007t0002g0005 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0001c0010t0003g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0001c0011t0004g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0002c0003t0001g0003 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0002c0003t0001g0004 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0002c0003t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0002c0003t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0002c0003t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0002c0003t0002g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0002c0003t0002g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0002c0004t0001g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0002c0004t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0002c0004t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0002c0004t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0003c0001t0002g0001 | 0/0 | 7 | 0 | 1 | 5 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0003c0001t0002g0002 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0003c0001t0002g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0003c0001t0002g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0003c0001t0002g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0003c0001t0002g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0004c0005t0001g0009 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0004c0005t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0004c0005t0003g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0004c0005t0003g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0005c0008t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0005c0008t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0005c0008t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0005c0008t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| a0006c0009t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00558 | hp1 | a0002 | c0003 | t0001 | g0003 | EAS | CHS | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| HG00558 | hp2 | a0001 | c0002 | t0001 | g0020 | EAS | CHS | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| HG01255 | hp1 | a0001 | c0011 | t0004 | g0041 | AMR | CLM | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| HG01255 | hp2 | a0003 | c0001 | t0002 | g0001 | AMR | CLM | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| HG01928 | hp1 | a0002 | c0003 | t0001 | g0024 | AMR | PEL | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| HG01928 | hp2 | a0001 | c0002 | t0001 | g0006 | AMR | PEL | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| HG03041 | hp1 | a0001 | c0007 | t0001 | g0023 | AFR | GWD | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| HG03041 | hp2 | a0001 | c0002 | t0001 | g0025 | AFR | GWD | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| HG03579 | hp1 | a0001 | c0006 | t0002 | g0018 | AFR | MSL | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| HG03579 | hp2 | a0001 | c0006 | t0001 | g0033 | AFR | MSL | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| HG04115 | hp1 | a0004 | c0005 | t0001 | g0009 | SAS | STU | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| HG04115 | hp2 | a0001 | c0002 | t0001 | g0007 | SAS | STU | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| HG04199 | hp1 | a0001 | c0002 | t0001 | g0022 | SAS | STU | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| HG04199 | hp2 | a0003 | c0001 | t0002 | g0001 | SAS | STU | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18939 | hp1 | a0003 | c0001 | t0002 | g0014 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18939 | hp2 | a0003 | c0001 | t0002 | g0002 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18941 | hp1 | a0001 | c0007 | t0002 | g0005 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18941 | hp2 | a0002 | c0003 | t0001 | g0026 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18946 | hp1 | a0002 | c0003 | t0001 | g0003 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18946 | hp2 | a0006 | c0009 | t0001 | g0031 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18948 | hp1 | a0002 | c0004 | t0001 | g0029 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18948 | hp2 | a0001 | c0002 | t0001 | g0008 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18952 | hp1 | a0002 | c0003 | t0001 | g0003 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18952 | hp2 | a0002 | c0003 | t0001 | g0003 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18964 | hp1 | a0005 | c0008 | t0001 | g0034 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18964 | hp2 | a0002 | c0004 | t0001 | g0032 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18965 | hp1 | a0002 | c0003 | t0001 | g0004 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18965 | hp2 | a0003 | c0001 | t0002 | g0002 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18973 | hp1 | a0002 | c0004 | t0001 | g0030 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18973 | hp2 | a0005 | c0008 | t0001 | g0035 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18976 | hp1 | a0001 | c0002 | t0001 | g0006 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18976 | hp2 | a0001 | c0007 | t0002 | g0005 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18981 | hp1 | a0004 | c0005 | t0001 | g0027 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18981 | hp2 | a0001 | c0002 | t0001 | g0007 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18983 | hp1 | a0003 | c0001 | t0002 | g0015 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18983 | hp2 | a0001 | c0006 | t0003 | g0011 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18988 | hp1 | a0004 | c0005 | t0001 | g0009 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18988 | hp2 | a0002 | c0004 | t0001 | g0010 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18989 | hp1 | a0002 | c0004 | t0001 | g0010 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18989 | hp2 | a0003 | c0001 | t0002 | g0001 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18990 | hp1 | a0002 | c0003 | t0002 | g0012 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18990 | hp2 | a0001 | c0007 | t0002 | g0005 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18991 | hp1 | a0003 | c0001 | t0002 | g0002 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18991 | hp2 | a0003 | c0001 | t0002 | g0001 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18997 | hp1 | a0003 | c0001 | t0002 | g0002 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18997 | hp2 | a0003 | c0001 | t0002 | g0001 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18998 | hp1 | a0003 | c0001 | t0002 | g0002 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA18998 | hp2 | a0001 | c0006 | t0003 | g0011 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19001 | hp1 | a0005 | c0008 | t0001 | g0037 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19001 | hp2 | a0001 | c0002 | t0001 | g0008 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19003 | hp1 | a0003 | c0001 | t0002 | g0001 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19003 | hp2 | a0001 | c0010 | t0003 | g0038 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19004 | hp1 | a0001 | c0002 | t0001 | g0028 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19004 | hp2 | a0002 | c0003 | t0001 | g0004 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19055 | hp1 | a0002 | c0003 | t0001 | g0021 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19055 | hp2 | a0001 | c0002 | t0001 | g0008 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19060 | hp1 | a0003 | c0001 | t0002 | g0016 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19060 | hp2 | a0001 | c0002 | t0001 | g0007 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19070 | hp1 | a0003 | c0001 | t0002 | g0017 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19070 | hp2 | a0002 | c0003 | t0002 | g0013 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19076 | hp1 | a0002 | c0003 | t0001 | g0004 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19076 | hp2 | a0005 | c0008 | t0001 | g0036 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19080 | hp1 | a0004 | c0005 | t0003 | g0039 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19080 | hp2 | a0004 | c0005 | t0003 | g0040 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19089 | hp1 | a0002 | c0003 | t0001 | g0004 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19089 | hp2 | a0003 | c0001 | t0002 | g0001 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19091 | hp1 | a0001 | c0002 | t0001 | g0019 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| NA19091 | hp2 | a0001 | c0002 | t0001 | g0006 | EAS | JPT | POLR2J3_chr7_102561966_102577583 | POLR2J3 | chr7 | 102561966 | 102577583 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:102568040 | A | C | 1 | a0002 | 18 | HG00558.hp1 HG01928.hp1 NA18941.hp2 others(15): Show |
missense_variant | MODERATE | c.285T>G | p.Ser95Arg | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/4 | 347/495 | 285/348 | 95/115 | chr7 | 102568040 | |||
| chr7:102568092 | G | A | 1 | a0004 | 5 | HG04115.hp1 NA18981.hp1 NA18988.hp1 others(2): Show |
missense_variant | MODERATE | c.233C>T | p.Pro78Leu | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/4 | 295/495 | 233/348 | 78/115 | chr7 | 102568092 | |||
| chr7:102569873 | G | C | 1 | a0003 | 16 | HG01255.hp2 HG04199.hp2 NA18939.hp1 others(13): Show |
missense_variant | MODERATE | c.102C>G | p.Ile34Met | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/4 | 164/495 | 102/348 | 34/115 | chr7 | 102569873 | |||
| chr7:102569891 | A | C | 1 | a0006 | 1 | NA18946.hp2 | missense_variant | MODERATE | c.84T>G | p.Asn28Lys | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/4 | 146/495 | 84/348 | 28/115 | chr7 | 102569891 | |||
| chr7:102572492 | G | C | 1 | a0005 | 4 | NA18964.hp1 NA18973.hp2 NA19001.hp1 others(1): Show |
missense_variant | MODERATE | c.30C>G | p.Phe10Leu | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/4 | 92/495 | 30/348 | 10/115 | chr7 | 102572492 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:102568013 | G | A | 1 | a0001c0011 | 1 | HG01255.hp1 | synonymous_variant | LOW | c.312C>T | p.Phe104Phe | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/4 | 374/495 | 312/348 | 104/115 | chr7 | 102568013 | |||
| chr7:102568040 | A | G | 4 | a0001c0002 a0001c0010 a0003c0001 others(1): Show |
35 | HG00558.hp2 HG01255.hp2 HG01928.hp2 others(32): Show |
synonymous_variant | LOW | c.285T>C | p.Ser95Ser | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/4 | 347/495 | 285/348 | 95/115 | chr7 | 102568040 | |||
| chr7:102569885 | A | G | 5 | a0001c0006 a0001c0010 a0001c0011 others(2): Show |
12 | HG01255.hp1 HG03579.hp1 HG03579.hp2 others(9): Show |
synonymous_variant | LOW | c.90T>C | p.Cys30Cys | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/4 | 152/495 | 90/348 | 30/115 | chr7 | 102569885 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:102572553 | T | C | 1 | a0001c0011t0004 | 1 | HG01255.hp1 | 5_prime_UTR_variant | MODIFIER | c.-32A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/4 | 32 | chr7 | 102572553 | ||||||
| chr7:102572553 | T | G | 3 | a0001c0006t0003 a0001c0010t0003 a0004c0005t0003 |
5 | NA18983.hp2 NA18998.hp2 NA19003.hp2 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-32A>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/4 | 32 | chr7 | 102572553 | ||||||
| chr7:102572565 | C | T | 4 | a0001c0006t0002 a0001c0007t0002 a0002c0003t0002 others(1): Show |
22 | HG01255.hp2 HG03579.hp1 HG04199.hp2 others(19): Show |
5_prime_UTR_variant | MODIFIER | c.-44G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/4 | 44 | chr7 | 102572565 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:102567268 | C | G | 8 | a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0020 others(5): Show |
20 | HG00558.hp2 HG01255.hp2 HG01928.hp2 others(17): Show |
intron_variant | MODIFIER | c.316-185G>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567268 | |||||||
| chr7:102567334 | A | C | 5 | a0001c0002t0001g0019 a0001c0002t0001g0022 a0005c0008t0001g0034 others(2): Show |
5 | HG04199.hp1 NA18964.hp1 NA18973.hp2 others(2): Show |
intron_variant | MODIFIER | c.316-251T>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567334 | |||||||
| chr7:102567339 | T | C | 3 | a0001c0002t0001g0020 a0001c0007t0001g0023 a0005c0008t0001g0036 |
3 | HG00558.hp2 HG03041.hp1 NA19076.hp2 |
intron_variant | MODIFIER | c.316-256A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567339 | |||||||
| chr7:102567480 | C | CA | 5 | a0002c0003t0001g0003 a0002c0004t0001g0010 a0002c0004t0001g0029 others(2): Show |
9 | HG00558.hp1 NA18946.hp1 NA18948.hp1 others(6): Show |
intron_variant | MODIFIER | c.316-398dupT | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567480 | |||||||
| chr7:102567512 | A | G | 1 | a0003c0001t0002g0015 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.316-429T>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567512 | |||||||
| chr7:102567629 | G | A | 1 | a0004c0005t0003g0040 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.315+381C>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567629 | |||||||
| chr7:102567778 | G | A | 1 | a0001c0002t0001g0025 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.315+232C>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567778 | |||||||
| chr7:102567952 | T | C | 4 | a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0025 others(1): Show |
8 | HG01928.hp2 HG03041.hp2 NA18946.hp2 others(5): Show |
intron_variant | MODIFIER | c.315+58A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567952 | |||||||
| chr7:102567961 | G | A | 3 | a0004c0005t0001g0009 a0004c0005t0003g0039 a0004c0005t0003g0040 |
4 | HG04115.hp1 NA18988.hp1 NA19080.hp1 others(1): Show |
intron_variant | MODIFIER | c.315+49C>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102567961 | |||||||
| chr7:102568001 | C | T | 4 | a0003c0001t0002g0002 a0003c0001t0002g0015 a0003c0001t0002g0016 others(1): Show |
8 | NA18939.hp2 NA18965.hp2 NA18983.hp1 others(5): Show |
intron_variant | MODIFIER | c.315+9G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 3/3 | chr7 | 102568001 | |||||||
| chr7:102568224 | T | C | 6 | a0003c0001t0002g0001 a0003c0001t0002g0002 a0003c0001t0002g0014 others(3): Show |
16 | HG01255.hp2 HG04199.hp2 NA18939.hp1 others(13): Show |
intron_variant | MODIFIER | c.141-40A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568224 | |||||||
| chr7:102568300 | C | CA | 4 | a0004c0005t0001g0009 a0004c0005t0001g0027 a0004c0005t0003g0039 others(1): Show |
5 | HG04115.hp1 NA18981.hp1 NA18988.hp1 others(2): Show |
intron_variant | MODIFIER | c.141-117dupT | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568300 | |||||||
| chr7:102568376 | C | T | 4 | a0004c0005t0001g0009 a0004c0005t0001g0027 a0004c0005t0003g0039 others(1): Show |
5 | HG04115.hp1 NA18981.hp1 NA18988.hp1 others(2): Show |
intron_variant | MODIFIER | c.141-192G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568376 | |||||||
| chr7:102568415 | G | C | 4 | a0001c0002t0001g0007 a0001c0002t0001g0028 a0001c0006t0001g0033 others(1): Show |
6 | HG03579.hp2 HG04115.hp2 NA18946.hp2 others(3): Show |
intron_variant | MODIFIER | c.141-231C>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568415 | |||||||
| chr7:102568483 | T | C | 3 | a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0025 |
7 | HG01928.hp2 HG03041.hp2 NA18948.hp2 others(4): Show |
intron_variant | MODIFIER | c.141-299A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568483 | |||||||
| chr7:102568672 | C | T | 2 | a0001c0006t0003g0011 a0001c0010t0003g0038 |
3 | NA18983.hp2 NA18998.hp2 NA19003.hp2 |
intron_variant | MODIFIER | c.141-488G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568672 | |||||||
| chr7:102568683 | C | G | 1 | a0002c0003t0002g0012 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.141-499G>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568683 | |||||||
| chr7:102568690 | T | C | 30 | a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 others(27): Show |
50 | HG00558.hp2 HG01255.hp1 HG01255.hp2 others(47): Show |
intron_variant | MODIFIER | c.141-506A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568690 | |||||||
| chr7:102568710 | T | C | 40 | a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 others(37): Show |
67 | HG00558.hp1 HG00558.hp2 HG01255.hp1 others(64): Show |
intron_variant | MODIFIER | c.141-526A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568710 | |||||||
| chr7:102568829 | G | A | 6 | a0001c0002t0001g0007 a0001c0006t0001g0033 a0001c0006t0003g0011 others(3): Show |
11 | HG03579.hp2 HG04115.hp2 NA18941.hp1 others(8): Show |
intron_variant | MODIFIER | c.141-645C>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102568829 | |||||||
| chr7:102569083 | C | T | 1 | a0001c0007t0002g0005 | 3 | NA18941.hp1 NA18976.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.140+752G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102569083 | |||||||
| chr7:102569340 | A | G | 36 | a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 others(33): Show |
62 | HG00558.hp1 HG00558.hp2 HG01255.hp2 others(59): Show |
intron_variant | MODIFIER | c.140+495T>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102569340 | |||||||
| chr7:102569435 | C | T | 3 | a0001c0006t0002g0018 a0001c0007t0001g0023 a0001c0007t0002g0005 |
5 | HG03041.hp1 HG03579.hp1 NA18941.hp1 others(2): Show |
intron_variant | MODIFIER | c.140+400G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102569435 | |||||||
| chr7:102569525 | C | A | 1 | a0003c0001t0002g0017 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.140+310G>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102569525 | |||||||
| chr7:102569575 | AAAAC | A | 4 | a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0025 others(1): Show |
10 | HG01928.hp2 HG03041.hp2 NA18941.hp1 others(7): Show |
intron_variant | MODIFIER | c.140+256_140+259del others(4): Show |
POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102569575 | |||||||
| chr7:102569591 | C | A | 4 | a0001c0006t0001g0033 a0001c0006t0003g0011 a0001c0010t0003g0038 others(1): Show |
5 | HG01255.hp1 HG03579.hp2 NA18983.hp2 others(2): Show |
intron_variant | MODIFIER | c.140+244G>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102569591 | |||||||
| chr7:102569671 | C | T | 1 | a0001c0006t0002g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.140+164G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 2/3 | chr7 | 102569671 | |||||||
| chr7:102569945 | C | G | 1 | a0002c0004t0001g0010 | 2 | NA18988.hp2 NA18989.hp1 |
intron_variant | MODIFIER | c.51-21G>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102569945 | |||||||
| chr7:102570131 | A | G | 2 | a0003c0001t0002g0002 a0003c0001t0002g0015 |
6 | NA18939.hp2 NA18965.hp2 NA18983.hp1 others(3): Show |
intron_variant | MODIFIER | c.51-207T>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570131 | |||||||
| chr7:102570134 | G | GA | 5 | a0001c0002t0001g0019 a0001c0002t0001g0020 a0005c0008t0001g0035 others(2): Show |
5 | HG00558.hp2 NA18973.hp2 NA19001.hp1 others(2): Show |
intron_variant | MODIFIER | c.51-211dupT | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570134 | |||||||
| chr7:102570134 | GA | G | 8 | a0001c0002t0001g0022 a0001c0006t0002g0018 a0002c0003t0001g0021 others(5): Show |
12 | HG03579.hp1 HG04199.hp1 NA18939.hp1 others(9): Show |
intron_variant | MODIFIER | c.51-211delT | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570134 | |||||||
| chr7:102570202 | AG | A | 1 | a0003c0001t0002g0001 | 7 | HG01255.hp2 HG04199.hp2 NA18989.hp2 others(4): Show |
intron_variant | MODIFIER | c.51-279delC | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570202 | |||||||
| chr7:102570537 | G | C | 1 | a0005c0008t0001g0037 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.51-613C>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570537 | |||||||
| chr7:102570563 | C | T | 3 | a0002c0004t0001g0010 a0002c0004t0001g0030 a0002c0004t0001g0032 |
4 | NA18964.hp2 NA18973.hp1 NA18988.hp2 others(1): Show |
intron_variant | MODIFIER | c.51-639G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570563 | |||||||
| chr7:102570564 | T | A | 3 | a0002c0004t0001g0010 a0002c0004t0001g0030 a0002c0004t0001g0032 |
4 | NA18964.hp2 NA18973.hp1 NA18988.hp2 others(1): Show |
intron_variant | MODIFIER | c.51-640A>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570564 | |||||||
| chr7:102570566 | C | T | 2 | a0002c0003t0002g0012 a0002c0003t0002g0013 |
2 | NA18990.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.51-642G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570566 | |||||||
| chr7:102570572 | C | T | 8 | a0001c0002t0001g0025 a0001c0006t0001g0033 a0001c0006t0003g0011 others(5): Show |
10 | HG01255.hp1 HG03041.hp2 HG03579.hp2 others(7): Show |
intron_variant | MODIFIER | c.51-648G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570572 | |||||||
| chr7:102570662 | T | C | 6 | a0001c0002t0001g0025 a0002c0004t0001g0010 a0002c0004t0001g0029 others(3): Show |
7 | HG03041.hp2 NA18946.hp2 NA18948.hp1 others(4): Show |
intron_variant | MODIFIER | c.51-738A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570662 | |||||||
| chr7:102570684 | G | A | 2 | a0002c0003t0001g0004 a0002c0003t0001g0026 |
5 | NA18941.hp2 NA18965.hp1 NA19004.hp2 others(2): Show |
intron_variant | MODIFIER | c.51-760C>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570684 | |||||||
| chr7:102570752 | C | T | 1 | a0001c0011t0004g0041 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.51-828G>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102570752 | |||||||
| chr7:102571002 | G | A | 5 | a0001c0006t0002g0018 a0003c0001t0002g0002 a0003c0001t0002g0015 others(2): Show |
9 | HG03579.hp1 NA18939.hp2 NA18965.hp2 others(6): Show |
intron_variant | MODIFIER | c.51-1078C>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102571002 | |||||||
| chr7:102571073 | A | G | 1 | a0002c0003t0001g0021 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.51-1149T>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102571073 | |||||||
| chr7:102571493 | G | C | 11 | a0001c0002t0001g0007 a0001c0002t0001g0019 a0001c0002t0001g0020 others(8): Show |
14 | HG00558.hp2 HG03579.hp2 HG04115.hp1 others(11): Show |
intron_variant | MODIFIER | c.50+979C>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102571493 | |||||||
| chr7:102571633 | G | C | 1 | a0001c0006t0002g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.50+839C>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102571633 | |||||||
| chr7:102572145 | T | C | 1 | a0001c0006t0001g0033 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.50+327A>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102572145 | |||||||
| chr7:102572292 | G | A | 4 | a0001c0006t0003g0011 a0001c0010t0003g0038 a0004c0005t0003g0039 others(1): Show |
5 | NA18983.hp2 NA18998.hp2 NA19003.hp2 others(2): Show |
intron_variant | MODIFIER | c.50+180C>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102572292 | |||||||
| chr7:102572296 | A | C | 13 | a0001c0002t0001g0008 a0001c0002t0001g0019 a0001c0006t0001g0033 others(10): Show |
16 | HG01255.hp1 HG03579.hp2 NA18946.hp2 others(13): Show |
intron_variant | MODIFIER | c.50+176T>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102572296 | |||||||
| chr7:102572300 | A | G | 14 | a0001c0002t0001g0008 a0001c0002t0001g0019 a0001c0002t0001g0020 others(11): Show |
17 | HG00558.hp2 HG01255.hp1 HG03579.hp2 others(14): Show |
intron_variant | MODIFIER | c.50+172T>C | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102572300 | |||||||
| chr7:102572311 | G | T | 4 | a0002c0003t0002g0012 a0002c0003t0002g0013 a0003c0001t0002g0001 others(1): Show |
10 | HG01255.hp2 HG04199.hp2 NA18939.hp1 others(7): Show |
intron_variant | MODIFIER | c.50+161C>A | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102572311 | |||||||
| chr7:102572315 | G | A | 6 | a0001c0006t0002g0018 a0001c0007t0002g0005 a0003c0001t0002g0002 others(3): Show |
12 | HG03579.hp1 NA18939.hp2 NA18941.hp1 others(9): Show |
intron_variant | MODIFIER | c.50+157C>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102572315 | |||||||
| chr7:102572433 | G | C | 2 | a0001c0002t0001g0008 a0002c0004t0001g0029 |
4 | NA18948.hp1 NA18948.hp2 NA19001.hp2 others(1): Show |
intron_variant | MODIFIER | c.50+39C>G | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102572433 | |||||||
| chr7:102572445 | C | A | 6 | a0001c0006t0001g0033 a0001c0011t0004g0041 a0002c0004t0001g0010 others(3): Show |
7 | HG01255.hp1 HG03579.hp2 NA18946.hp2 others(4): Show |
intron_variant | MODIFIER | c.50+27G>T | POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 1/3 | chr7 | 102572445 |