Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 246721 |
| ensemblid | ENSG00000228049.8 |
| hgncid | 23208 |
| symbol | POLR2J2 |
| name | RNA polymerase II subunit J2 |
| refseq_nuc | NM_032959.7 |
| refseq_prot | NP_116581.3 |
| ensembl_nuc | ENST00000333432.9 |
| ensembl_prot | ENSP00000330898.7 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 102666046 |
| end | 102671663 |
| strand | - |
| ver | v1.2 |
| region | chr7:102666046-102671663 |
| region5000 | chr7:102661046-102676663 |
| regionname0 | POLR2J2_chr7_102666046_102671663 |
| regionname5000 | POLR2J2_chr7_102661046_102676663 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 115 | 24 | 13 | 4 | 6 | 0 | 1 | 5 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | MNAPP others(110): Show |
chr7 | 102661046 | 102676663 |
| a0002 | 0/0 | 115 | 12 | 1 | 3 | 8 | 0 | 0 | 5 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | MNAPP others(110): Show |
chr7 | 102661046 | 102676663 |
| a0003 | 0/0 | 115 | 8 | 8 | 0 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | MNAPP others(110): Show |
chr7 | 102661046 | 102676663 |
| a0004 | 0/0 | 115 | 5 | 1 | 1 | 2 | 0 | 1 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | MNAPP others(110): Show |
chr7 | 102661046 | 102676663 |
| a0005 | 0/0 | 72 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | MNAPP others(67): Show |
chr7 | 102661046 | 102676663 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 345 | 24 | 13 | 4 | 6 | 0 | 1 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | ATGAA others(340): Show |
chr7 | 102661046 | 102676663 | ||
| a0002c0002 | 0/0 | 345 | 12 | 1 | 3 | 8 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | ATGAA others(340): Show |
chr7 | 102661046 | 102676663 | ||
| a0003c0003 | 0/0 | 345 | 5 | 5 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | ATGAA others(340): Show |
chr7 | 102661046 | 102676663 | ||
| a0003c0006 | 0/0 | 345 | 3 | 3 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | ATGAA others(340): Show |
chr7 | 102661046 | 102676663 | ||
| a0004c0004 | 0/0 | 345 | 5 | 1 | 1 | 2 | 0 | 1 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | ATGAA others(340): Show |
chr7 | 102661046 | 102676663 | ||
| a0005c0005 | 0/0 | 345 | 3 | 3 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | ATGAA others(340): Show |
chr7 | 102661046 | 102676663 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 495 | 24 | 13 | 4 | 6 | 0 | 1 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | ATTAG others(490): Show |
chr7 | 102661046 | 102676663 |
| a0002c0002t0001 | 0/0 | 495 | 12 | 1 | 3 | 8 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | ATTAG others(490): Show |
chr7 | 102661046 | 102676663 |
| a0003c0003t0001 | 0/0 | 495 | 5 | 5 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | ATTAG others(490): Show |
chr7 | 102661046 | 102676663 |
| a0003c0006t0001 | 0/0 | 495 | 3 | 3 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | ATTAG others(490): Show |
chr7 | 102661046 | 102676663 |
| a0004c0004t0001 | 0/0 | 495 | 5 | 1 | 1 | 2 | 0 | 1 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | ATTAG others(490): Show |
chr7 | 102661046 | 102676663 |
| a0005c0005t0001 | 0/0 | 495 | 3 | 3 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | ATTAG others(490): Show |
chr7 | 102661046 | 102676663 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 5 | 0 | 1 | 4 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0001c0001t0001g0003 | 0/0 | 5 | 5 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0001c0001t0001g0004 | 0/0 | 4 | 0 | 2 | 2 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0001c0001t0001g0006 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0001c0001t0001g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0001c0001t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0001c0001t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0002c0002t0001g0001 | 0/0 | 5 | 1 | 3 | 1 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0002c0002t0001g0005 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0002c0002t0001g0007 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0003c0003t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0003c0003t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0003c0003t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0003c0003t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0003c0003t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0003c0006t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0003c0006t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0003c0006t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0004c0004t0001g0009 | 0/0 | 2 | 1 | 0 | 1 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0004c0004t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0004c0004t0001g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0004c0004t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0005c0005t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0005c0005t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| a0005c0005t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00438 | hp1 | a0002 | c0002 | t0001 | g0001 | EAS | CHS | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG00438 | hp2 | a0002 | c0002 | t0001 | g0005 | EAS | CHS | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | CHS | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG00558 | hp2 | a0004 | c0004 | t0001 | g0026 | EAS | CHS | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG00733 | hp1 | a0002 | c0002 | t0001 | g0001 | AMR | PUR | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0004 | AMR | PUR | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0017 | AMR | PUR | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG01358 | hp1 | a0004 | c0004 | t0001 | g0028 | AMR | CLM | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG01358 | hp2 | a0002 | c0002 | t0001 | g0001 | AMR | CLM | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02165 | hp1 | a0002 | c0002 | t0001 | g0005 | EAS | CDX | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02165 | hp2 | a0004 | c0004 | t0001 | g0009 | EAS | CDX | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0019 | AFR | ACB | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02273 | hp1 | a0002 | c0002 | t0001 | g0001 | AMR | PEL | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0004 | AMR | PEL | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02630 | hp1 | a0002 | c0002 | t0001 | g0001 | AFR | GWD | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02630 | hp2 | a0004 | c0004 | t0001 | g0009 | AFR | GWD | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0008 | AFR | GWD | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0008 | AFR | GWD | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | ESN | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02965 | hp2 | a0005 | c0005 | t0001 | g0014 | AFR | ESN | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG03209 | hp1 | a0005 | c0005 | t0001 | g0015 | AFR | MSL | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG03209 | hp2 | a0003 | c0003 | t0001 | g0010 | AFR | MSL | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0018 | SAS | PJL | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG03239 | hp2 | a0004 | c0004 | t0001 | g0027 | SAS | PJL | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | MSL | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG03486 | hp2 | a0003 | c0006 | t0001 | g0023 | AFR | MSL | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG03579 | hp1 | a0003 | c0006 | t0001 | g0011 | AFR | MSL | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG03579 | hp2 | a0003 | c0003 | t0001 | g0025 | AFR | MSL | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| NA18943 | hp2 | a0002 | c0002 | t0001 | g0005 | EAS | JPT | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| NA18969 | hp2 | a0002 | c0002 | t0001 | g0007 | EAS | JPT | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0021 | AFR | LWK | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0020 | AFR | LWK | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| NA19063 | hp2 | a0002 | c0002 | t0001 | g0007 | EAS | JPT | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| NA19065 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| NA19065 | hp2 | a0002 | c0002 | t0001 | g0007 | EAS | JPT | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| NA19068 | hp1 | a0002 | c0002 | t0001 | g0005 | EAS | JPT | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02109 | hp1 | a0003 | c0003 | t0001 | g0022 | AFR | ACB | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02109 | hp2 | a0003 | c0003 | t0001 | g0016 | AFR | ACB | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG02486 | hp2 | a0003 | c0003 | t0001 | g0012 | AFR | ACB | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG03471 | hp1 | a0003 | c0006 | t0001 | g0024 | AFR | MSL | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| HG03471 | hp2 | a0005 | c0005 | t0001 | g0013 | AFR | MSL | POLR2J2_chr7_102661046_102676663 | POLR2J2 | chr7 | 102661046 | 102676663 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:102667120 | A | C | 1 | a0002 | 12 | HG00438.hp1 HG00438.hp2 HG00733.hp1 others(9): Show |
missense_variant | MODERATE | c.285T>G | p.Ser95Arg | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 3/4 | 347/495 | 285/348 | 95/115 | chr7 | 102667120 | |||
| chr7:102667188 | G | A | 1 | a0005 | 3 | HG02965.hp2 HG03209.hp1 HG03471.hp2 |
stop_gained | HIGH | c.217C>T | p.Arg73* | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 3/4 | 279/495 | 217/348 | 73/115 | chr7 | 102667188 | |||
| chr7:102668971 | C | A | 4 | a0002 a0003 a0004 others(1): Show |
28 | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(25): Show |
missense_variant | MODERATE | c.84G>T | p.Lys28Asn | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/4 | 146/495 | 84/348 | 28/115 | chr7 | 102668971 | |||
| chr7:102671572 | G | C | 1 | a0004 | 5 | HG00558.hp2 HG01358.hp1 HG02165.hp2 others(2): Show |
missense_variant | MODERATE | c.30C>G | p.Phe10Leu | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 1/4 | 92/495 | 30/348 | 10/115 | chr7 | 102671572 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:102667120 | A | G | 3 | a0003c0006 a0004c0004 a0005c0005 |
11 | HG00558.hp2 HG01358.hp1 HG02165.hp2 others(8): Show |
synonymous_variant | LOW | c.285T>C | p.Ser95Ser | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 3/4 | 347/495 | 285/348 | 95/115 | chr7 | 102667120 | |||
| chr7:102668965 | G | A | 2 | a0003c0006 a0004c0004 |
8 | HG00558.hp2 HG01358.hp1 HG02165.hp2 others(5): Show |
synonymous_variant | LOW | c.90C>T | p.Cys30Cys | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/4 | 152/495 | 90/348 | 30/115 | chr7 | 102668965 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:102666348 | G | C | 22 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(19): Show |
41 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(38): Show |
intron_variant | MODIFIER | c.316-185C>G | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 3/3 | chr7 | 102666348 | |||||||
| chr7:102666400 | AGATTGAT others(1): Show |
A | 4 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0017 others(1): Show |
11 | HG00558.hp1 HG00733.hp2 HG01099.hp1 others(8): Show |
intron_variant | MODIFIER | c.316-245_316-238del others(8): Show |
POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 3/3 | chr7 | 102666400 | |||||||
| chr7:102666414 | A | C | 1 | a0004c0004t0001g0009 | 2 | HG02165.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.316-251T>G | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 3/3 | chr7 | 102666414 | |||||||
| chr7:102666419 | T | C | 1 | a0004c0004t0001g0026 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.316-256A>G | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 3/3 | chr7 | 102666419 | |||||||
| chr7:102666559 | C | T | 2 | a0003c0006t0001g0023 a0003c0006t0001g0024 |
2 | HG03471.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.316-396G>A | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 3/3 | chr7 | 102666559 | |||||||
| chr7:102666560 | C | CA | 3 | a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0007 |
12 | HG00438.hp1 HG00438.hp2 HG00733.hp1 others(9): Show |
intron_variant | MODIFIER | c.316-398dupT | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 3/3 | chr7 | 102666560 | |||||||
| chr7:102666611 | T | G | 2 | a0003c0003t0001g0016 a0003c0003t0001g0022 |
2 | HG02109.hp1 HG02109.hp2 |
intron_variant | MODIFIER | c.316-448A>C | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 3/3 | chr7 | 102666611 | |||||||
| chr7:102666655 | C | T | 2 | a0003c0006t0001g0023 a0003c0006t0001g0024 |
2 | HG03471.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.315+435G>A | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 3/3 | chr7 | 102666655 | |||||||
| chr7:102666858 | G | A | 1 | a0003c0006t0001g0011 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.315+232C>T | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 3/3 | chr7 | 102666858 | |||||||
| chr7:102666980 | G | A | 1 | a0003c0006t0001g0024 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.315+110C>T | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 3/3 | chr7 | 102666980 | |||||||
| chr7:102666980 | G | C | 1 | a0003c0006t0001g0023 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.315+110C>G | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 3/3 | chr7 | 102666980 | |||||||
| chr7:102667032 | T | C | 8 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(5): Show |
16 | HG00558.hp1 HG00733.hp2 HG01099.hp1 others(13): Show |
intron_variant | MODIFIER | c.315+58A>G | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 3/3 | chr7 | 102667032 | |||||||
| chr7:102667495 | G | C | 9 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0017 others(6): Show |
16 | HG00558.hp1 HG00733.hp2 HG01099.hp1 others(13): Show |
intron_variant | MODIFIER | c.141-231C>G | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/3 | chr7 | 102667495 | |||||||
| chr7:102667563 | T | C | 4 | a0003c0003t0001g0016 a0003c0003t0001g0022 a0003c0006t0001g0011 others(1): Show |
4 | HG02109.hp1 HG02109.hp2 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.141-299A>G | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/3 | chr7 | 102667563 | |||||||
| chr7:102667591 | A | C | 1 | a0005c0005t0001g0013 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.141-327T>G | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/3 | chr7 | 102667591 | |||||||
| chr7:102667609 | A | C | 26 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(23): Show |
46 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(43): Show |
intron_variant | MODIFIER | c.141-345T>G | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/3 | chr7 | 102667609 | |||||||
| chr7:102667689 | C | T | 2 | a0003c0006t0001g0023 a0003c0006t0001g0024 |
2 | HG03471.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.141-425G>A | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/3 | chr7 | 102667689 | |||||||
| chr7:102667719 | G | A | 2 | a0003c0003t0001g0016 a0003c0003t0001g0022 |
2 | HG02109.hp1 HG02109.hp2 |
intron_variant | MODIFIER | c.141-455C>T | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/3 | chr7 | 102667719 | |||||||
| chr7:102667770 | C | T | 3 | a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0007 |
12 | HG00438.hp1 HG00438.hp2 HG00733.hp1 others(9): Show |
intron_variant | MODIFIER | c.141-506G>A | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/3 | chr7 | 102667770 | |||||||
| chr7:102667909 | A | G | 13 | a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0007 others(10): Show |
23 | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(20): Show |
intron_variant | MODIFIER | c.141-645T>C | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/3 | chr7 | 102667909 | |||||||
| chr7:102668192 | C | G | 1 | a0003c0003t0001g0012 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.140+723G>C | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/3 | chr7 | 102668192 | |||||||
| chr7:102668270 | GA | G | 2 | a0003c0006t0001g0023 a0003c0006t0001g0024 |
2 | HG03471.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.140+644delT | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/3 | chr7 | 102668270 | |||||||
| chr7:102668392 | G | T | 1 | a0003c0003t0001g0016 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.140+523C>A | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/3 | chr7 | 102668392 | |||||||
| chr7:102668420 | A | G | 12 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0002c0002t0001g0001 others(9): Show |
22 | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(19): Show |
intron_variant | MODIFIER | c.140+495T>C | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/3 | chr7 | 102668420 | |||||||
| chr7:102668671 | A | C | 16 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0017 others(13): Show |
33 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(30): Show |
intron_variant | MODIFIER | c.140+244T>G | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/3 | chr7 | 102668671 | |||||||
| chr7:102668693 | G | A | 2 | a0003c0006t0001g0023 a0003c0006t0001g0024 |
2 | HG03471.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.140+222C>T | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/3 | chr7 | 102668693 | |||||||
| chr7:102668784 | T | C | 2 | a0003c0006t0001g0023 a0003c0006t0001g0024 |
2 | HG03471.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.140+131A>G | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/3 | chr7 | 102668784 | |||||||
| chr7:102668886 | C | T | 2 | a0003c0006t0001g0023 a0003c0006t0001g0024 |
2 | HG03471.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.140+29G>A | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 2/3 | chr7 | 102668886 | |||||||
| chr7:102669025 | C | G | 1 | a0002c0002t0001g0007 | 3 | NA18969.hp2 NA19063.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.51-21G>C | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 1/3 | chr7 | 102669025 | |||||||
| chr7:102669536 | G | A | 2 | a0003c0006t0001g0023 a0003c0006t0001g0024 |
2 | HG03471.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.51-532C>T | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 1/3 | chr7 | 102669536 | |||||||
| chr7:102669593 | T | A | 1 | a0001c0001t0001g0017 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.51-589A>T | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 1/3 | chr7 | 102669593 | |||||||
| chr7:102669643 | C | T | 3 | a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0007 |
12 | HG00438.hp1 HG00438.hp2 HG00733.hp1 others(9): Show |
intron_variant | MODIFIER | c.51-639G>A | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 1/3 | chr7 | 102669643 | |||||||
| chr7:102669644 | T | A | 3 | a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0007 |
12 | HG00438.hp1 HG00438.hp2 HG00733.hp1 others(9): Show |
intron_variant | MODIFIER | c.51-640A>T | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 1/3 | chr7 | 102669644 | |||||||
| chr7:102669652 | C | T | 13 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0017 others(10): Show |
27 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(24): Show |
intron_variant | MODIFIER | c.51-648G>A | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 1/3 | chr7 | 102669652 | |||||||
| chr7:102669742 | C | T | 11 | a0003c0003t0001g0010 a0003c0003t0001g0012 a0003c0003t0001g0016 others(8): Show |
12 | HG00558.hp2 HG01358.hp1 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.51-738G>A | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 1/3 | chr7 | 102669742 | |||||||
| chr7:102670573 | G | C | 15 | a0002c0002t0001g0005 a0003c0003t0001g0010 a0003c0003t0001g0012 others(12): Show |
19 | HG00438.hp2 HG00558.hp2 HG01358.hp1 others(16): Show |
intron_variant | MODIFIER | c.50+979C>G | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 1/3 | chr7 | 102670573 | |||||||
| chr7:102670737 | G | T | 1 | a0003c0003t0001g0010 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.50+815C>A | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 1/3 | chr7 | 102670737 | |||||||
| chr7:102671025 | C | G | 1 | a0003c0003t0001g0016 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.50+527G>C | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 1/3 | chr7 | 102671025 | |||||||
| chr7:102671225 | T | C | 1 | a0003c0003t0001g0025 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.50+327A>G | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 1/3 | chr7 | 102671225 | |||||||
| chr7:102671318 | C | A | 1 | a0003c0003t0001g0010 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.50+234G>T | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 1/3 | chr7 | 102671318 | |||||||
| chr7:102671319 | A | C | 1 | a0003c0003t0001g0010 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.50+233T>G | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 1/3 | chr7 | 102671319 | |||||||
| chr7:102671320 | C | T | 1 | a0003c0003t0001g0010 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.50+232G>A | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 1/3 | chr7 | 102671320 | |||||||
| chr7:102671525 | A | C | 10 | a0003c0003t0001g0010 a0003c0003t0001g0012 a0003c0006t0001g0011 others(7): Show |
11 | HG00558.hp2 HG01358.hp1 HG02165.hp2 others(8): Show |
intron_variant | MODIFIER | c.50+27T>G | POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 1/3 | chr7 | 102671525 |