Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 440561 |
| ensemblid | ENSG00000232423.6 |
| hgncid | 30583 |
| symbol | PRAMEF6 |
| name | PRAME family member 6 |
| refseq_nuc | NM_001010889.2 |
| refseq_prot | NP_001010889.1 |
| ensembl_nuc | ENST00000376189.5 |
| ensembl_prot | ENSP00000365360.1 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 12938472 |
| end | 12947580 |
| strand | - |
| ver | v1.2 |
| region | chr1:12938472-12947580 |
| region5000 | chr1:12933472-12952580 |
| regionname0 | PRAMEF6_chr1_12938472_12947580 |
| regionname5000 | PRAMEF6_chr1_12933472_12952580 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 476 | 31 | 3 | 7 | 17 | 1 | 3 | 7 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MSIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0002 | 0/0 | 476 | 28 | 2 | 8 | 17 | 0 | 1 | 9 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MSIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0003 | 0/0 | 476 | 5 | 0 | 2 | 1 | 1 | 1 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MSIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0004 | 0/0 | 476 | 4 | 0 | 2 | 2 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MSIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0005 | 0/0 | 476 | 4 | 0 | 0 | 4 | 0 | 0 | 4 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MSIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0006 | 0/0 | 476 | 3 | 1 | 2 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MSIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0007 | 0/0 | 476 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MSIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0008 | 0/0 | 476 | 2 | 0 | 1 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MSIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0009 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MSIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0010 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MSIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0011 | 0/0 | 476 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MSIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0012 | 0/0 | 476 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MSIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0013 | 0/0 | 476 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MSIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0014 | 0/0 | 476 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MSIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0015 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MNIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0016 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MSIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0017 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MNIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| a0018 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | MSIRT others(471): Show |
chr1 | 12933472 | 12952580 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1428 | 31 | 3 | 7 | 17 | 1 | 3 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAG others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0002c0002 | 0/0 | 1428 | 28 | 2 | 8 | 17 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAG others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0003c0003 | 0/0 | 1428 | 5 | 0 | 2 | 1 | 1 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAG others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0004c0005 | 0/0 | 1428 | 4 | 0 | 2 | 2 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAG others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0005c0004 | 0/0 | 1428 | 4 | 0 | 0 | 4 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAG others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0006c0007 | 0/0 | 1428 | 3 | 1 | 2 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAG others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0007c0006 | 0/0 | 1428 | 3 | 3 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAG others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0008c0008 | 0/0 | 1428 | 2 | 0 | 1 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAG others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0009c0011 | 0/0 | 1428 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAG others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0010c0013 | 0/0 | 1428 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAG others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0011c0016 | 0/0 | 1428 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAG others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0012c0014 | 0/0 | 1428 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAG others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0013c0012 | 0/0 | 1428 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAG others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0014c0015 | 0/0 | 1428 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAG others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0015c0009 | 0/0 | 1428 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAA others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0016c0018 | 0/0 | 1428 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAG others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0017c0010 | 0/0 | 1428 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAA others(1423): Show |
chr1 | 12933472 | 12952580 | ||
| a0018c0017 | 0/0 | 1428 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | ATGAG others(1423): Show |
chr1 | 12933472 | 12952580 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1720 | 31 | 3 | 7 | 17 | 1 | 3 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0002c0002t0001 | 0/0 | 1720 | 28 | 2 | 8 | 17 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0003c0003t0004 | 0/0 | 1720 | 5 | 0 | 2 | 1 | 1 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0004c0005t0002 | 0/0 | 1720 | 4 | 0 | 2 | 2 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0005c0004t0005 | 0/0 | 1720 | 4 | 0 | 0 | 4 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0006c0007t0003 | 0/0 | 1720 | 3 | 1 | 2 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0007c0006t0003 | 0/0 | 1720 | 3 | 3 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0008c0008t0001 | 0/0 | 1720 | 2 | 0 | 1 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0009c0011t0001 | 0/0 | 1720 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0010c0013t0001 | 0/0 | 1720 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0011c0016t0002 | 0/0 | 1720 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0012c0014t0006 | 0/0 | 1720 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0013c0012t0001 | 0/0 | 1720 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0014c0015t0002 | 0/0 | 1720 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0015c0009t0007 | 0/0 | 1720 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0016c0018t0004 | 0/0 | 1720 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0017c0010t0008 | 0/0 | 1720 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| a0018c0017t0002 | 0/0 | 1720 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | AGCCT others(1715): Show |
chr1 | 12933472 | 12952580 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 19 | 3 | 6 | 6 | 1 | 3 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0003 | 0/0 | 6 | 0 | 0 | 6 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0002 | 0/0 | 10 | 0 | 4 | 6 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0004 | 0/0 | 5 | 0 | 3 | 1 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0008 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0003c0003t0004g0006 | 0/0 | 3 | 0 | 0 | 1 | 1 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0003c0003t0004g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0003c0003t0004g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0004c0005t0002g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0004c0005t0002g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0004c0005t0002g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0004c0005t0002g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0005c0004t0005g0007 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0005c0004t0005g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0005c0004t0005g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0006c0007t0003g0010 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0006c0007t0003g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0007c0006t0003g0005 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0008c0008t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0008c0008t0001g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0009c0011t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0010c0013t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0011c0016t0002g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0012c0014t0006g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0013c0012t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0014c0015t0002g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0015c0009t0007g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0016c0018t0004g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0017c0010t0008g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0018c0017t0002g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00408 | hp1 | a0002 | c0002 | t0001 | g0009 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00408 | hp2 | a0009 | c0011 | t0001 | g0034 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00423 | hp1 | a0010 | c0013 | t0001 | g0037 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00423 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0039 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00609 | hp2 | a0004 | c0005 | t0002 | g0020 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00621 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00621 | hp2 | a0002 | c0002 | t0001 | g0031 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00673 | hp2 | a0002 | c0002 | t0001 | g0009 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00735 | hp1 | a0002 | c0002 | t0001 | g0002 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00735 | hp2 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00738 | hp1 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00741 | hp1 | a0006 | c0007 | t0003 | g0010 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00741 | hp2 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01069 | hp2 | a0011 | c0016 | t0002 | g0015 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01071 | hp1 | a0006 | c0007 | t0003 | g0010 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01175 | hp1 | a0012 | c0014 | t0006 | g0011 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01175 | hp2 | a0004 | c0005 | t0002 | g0016 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01261 | hp2 | a0003 | c0003 | t0004 | g0044 | AMR | CLM | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0038 | AMR | CLM | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01346 | hp2 | a0002 | c0002 | t0001 | g0002 | AMR | CLM | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01433 | hp1 | a0002 | c0002 | t0001 | g0028 | AMR | CLM | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01433 | hp2 | a0003 | c0003 | t0004 | g0045 | AMR | CLM | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01993 | hp2 | a0004 | c0005 | t0002 | g0017 | AMR | PEL | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02027 | hp1 | a0002 | c0002 | t0001 | g0026 | EAS | KHV | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02027 | hp2 | a0002 | c0002 | t0001 | g0004 | EAS | KHV | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | KHV | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02132 | hp2 | a0008 | c0008 | t0001 | g0036 | EAS | KHV | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02165 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | CDX | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | CDX | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02258 | hp1 | a0002 | c0002 | t0001 | g0024 | AFR | ACB | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02293 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02293 | hp2 | a0002 | c0002 | t0001 | g0002 | AMR | PEL | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02970 | hp1 | a0013 | c0012 | t0001 | g0040 | AFR | ESN | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02970 | hp2 | a0007 | c0006 | t0003 | g0005 | AFR | ESN | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG03017 | hp1 | a0002 | c0002 | t0001 | g0004 | SAS | PJL | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG03017 | hp2 | a0003 | c0003 | t0004 | g0006 | SAS | PJL | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG03654 | hp2 | a0014 | c0015 | t0002 | g0018 | SAS | PJL | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18522 | hp1 | a0007 | c0006 | t0003 | g0005 | AFR | YRI | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18522 | hp2 | a0002 | c0002 | t0001 | g0025 | AFR | YRI | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18943 | hp2 | a0004 | c0005 | t0002 | g0014 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18970 | hp2 | a0003 | c0003 | t0004 | g0006 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18971 | hp1 | a0005 | c0004 | t0005 | g0007 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18984 | hp1 | a0002 | c0002 | t0001 | g0027 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18998 | hp1 | a0015 | c0009 | t0007 | g0012 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19005 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19005 | hp2 | a0002 | c0002 | t0001 | g0030 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19011 | hp1 | a0002 | c0002 | t0001 | g0029 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19011 | hp2 | a0005 | c0004 | t0005 | g0022 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19054 | hp1 | a0005 | c0004 | t0005 | g0021 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19054 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19060 | hp1 | a0002 | c0002 | t0001 | g0008 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19060 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19077 | hp1 | a0016 | c0018 | t0004 | g0046 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19077 | hp2 | a0017 | c0010 | t0008 | g0013 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19085 | hp1 | a0002 | c0002 | t0001 | g0008 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19085 | hp2 | a0018 | c0017 | t0002 | g0019 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19087 | hp2 | a0005 | c0004 | t0005 | g0007 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19088 | hp1 | a0002 | c0002 | t0001 | g0023 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA20752 | hp2 | a0003 | c0003 | t0004 | g0006 | EUR | TSI | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01123 | hp1 | a0002 | c0002 | t0001 | g0002 | AMR | CLM | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01123 | hp2 | a0008 | c0008 | t0001 | g0042 | AMR | CLM | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02486 | hp1 | a0007 | c0006 | t0003 | g0005 | AFR | ACB | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | USA | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA20300 | hp2 | a0006 | c0007 | t0003 | g0032 | AFR | USA | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:12938685 | C | T | 1 | a0010 | 1 | HG00423.hp1 | missense_variant | MODERATE | c.1421G>A | p.Cys474Tyr | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 1507/1720 | 1421/1431 | 474/476 | chr1 | 12938685 | |||
| chr1:12938736 | C | T | 3 | a0003 a0012 a0016 |
7 | HG01175.hp1 HG01261.hp2 HG01433.hp2 others(4): Show |
missense_variant | MODERATE | c.1370G>A | p.Cys457Tyr | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 1456/1720 | 1370/1431 | 457/476 | chr1 | 12938736 | |||
| chr1:12938859 | G | A | 4 | a0004 a0011 a0014 others(1): Show |
7 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(4): Show |
missense_variant | MODERATE | c.1247C>T | p.Pro416Leu | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 1333/1720 | 1247/1431 | 416/476 | chr1 | 12938859 | |||
| chr1:12938878 | C | G | 2 | a0003 a0016 |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
missense_variant | MODERATE | c.1228G>C | p.Val410Leu | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 1314/1720 | 1228/1431 | 410/476 | chr1 | 12938878 | |||
| chr1:12938934 | G | C | 1 | a0008 | 2 | HG01123.hp2 HG02132.hp2 |
missense_variant | MODERATE | c.1172C>G | p.Ser391Cys | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 1258/1720 | 1172/1431 | 391/476 | chr1 | 12938934 | |||
| chr1:12938980 | G | A | 1 | a0016 | 1 | NA19077.hp1 | missense_variant | MODERATE | c.1126C>T | p.Arg376Cys | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 1212/1720 | 1126/1431 | 376/476 | chr1 | 12938980 | |||
| chr1:12939075 | A | G | 5 | a0004 a0005 a0011 others(2): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
missense_variant | MODERATE | c.1031T>C | p.Leu344Pro | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 1117/1720 | 1031/1431 | 344/476 | chr1 | 12939075 | |||
| chr1:12941032 | G | T | 2 | a0003 a0016 |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
missense_variant | MODERATE | c.821C>A | p.Ser274Tyr | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/4 | 907/1720 | 821/1431 | 274/476 | chr1 | 12941032 | |||
| chr1:12941051 | A | G | 2 | a0003 a0016 |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
missense_variant | MODERATE | c.802T>C | p.Cys268Arg | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/4 | 888/1720 | 802/1431 | 268/476 | chr1 | 12941051 | |||
| chr1:12941356 | C | T | 6 | a0004 a0005 a0011 others(3): Show |
12 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(9): Show |
missense_variant | MODERATE | c.497G>A | p.Cys166Tyr | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/4 | 583/1720 | 497/1431 | 166/476 | chr1 | 12941356 | |||
| chr1:12941366 | A | G | 3 | a0003 a0006 a0016 |
9 | HG00741.hp1 HG01071.hp1 HG01261.hp2 others(6): Show |
missense_variant | MODERATE | c.487T>C | p.Tyr163His | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/4 | 573/1720 | 487/1431 | 163/476 | chr1 | 12941366 | |||
| chr1:12941422 | T | C | 6 | a0004 a0005 a0011 others(3): Show |
12 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(9): Show |
missense_variant | MODERATE | c.431A>G | p.Gln144Arg | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/4 | 517/1720 | 431/1431 | 144/476 | chr1 | 12941422 | |||
| chr1:12941455 | G | T | 9 | a0003 a0004 a0005 others(6): Show |
23 | HG00609.hp2 HG00741.hp1 HG01071.hp1 others(20): Show |
missense_variant | MODERATE | c.398C>A | p.Thr133Lys | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/4 | 484/1720 | 398/1431 | 133/476 | chr1 | 12941455 | |||
| chr1:12941488 | C | T | 6 | a0004 a0005 a0006 others(3): Show |
16 | HG00609.hp2 HG00741.hp1 HG01071.hp1 others(13): Show |
missense_variant | MODERATE | c.365G>A | p.Arg122His | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/4 | 451/1720 | 365/1431 | 122/476 | chr1 | 12941488 | |||
| chr1:12942238 | T | C | 2 | a0003 a0016 |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
missense_variant | MODERATE | c.281A>G | p.His94Arg | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 367/1720 | 281/1431 | 94/476 | chr1 | 12942238 | |||
| chr1:12942290 | C | T | 1 | a0013 | 1 | HG02970.hp1 | missense_variant | MODERATE | c.229G>A | p.Ala77Thr | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 315/1720 | 229/1431 | 77/476 | chr1 | 12942290 | |||
| chr1:12942335 | G | A | 1 | a0018 | 1 | NA19085.hp2 | missense_variant | MODERATE | c.184C>T | p.Arg62Cys | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 270/1720 | 184/1431 | 62/476 | chr1 | 12942335 | |||
| chr1:12942398 | T | G | 7 | a0004 a0005 a0011 others(4): Show |
13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
missense_variant | MODERATE | c.121A>C | p.Met41Leu | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 207/1720 | 121/1431 | 41/476 | chr1 | 12942398 | |||
| chr1:12942472 | C | T | 6 | a0001 a0008 a0009 others(3): Show |
37 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(34): Show |
missense_variant | MODERATE | c.47G>A | p.Ser16Asn | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 133/1720 | 47/1431 | 16/476 | chr1 | 12942472 | |||
| chr1:12942475 | C | T | 1 | a0009 | 1 | HG00408.hp2 | missense_variant | MODERATE | c.44G>A | p.Arg15Gln | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 130/1720 | 44/1431 | 15/476 | chr1 | 12942475 | |||
| chr1:12942514 | C | T | 2 | a0015 a0017 |
2 | NA18998.hp1 NA19077.hp2 |
missense_variant | MODERATE | c.5G>A | p.Ser2Asn | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 91/1720 | 5/1431 | 2/476 | chr1 | 12942514 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:12938780 | C | A | 5 | a0004c0005 a0011c0016 a0012c0014 others(2): Show |
8 | HG00609.hp2 HG01069.hp2 HG01175.hp1 others(5): Show |
synonymous_variant | LOW | c.1326G>T | p.Val442Val | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 1412/1720 | 1326/1431 | 442/476 | chr1 | 12938780 | |||
| chr1:12941403 | G | A | 1 | a0015c0009 | 1 | NA18998.hp1 | synonymous_variant | LOW | c.450C>T | p.Phe150Phe | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/4 | 536/1720 | 450/1431 | 150/476 | chr1 | 12941403 | |||
| chr1:12942264 | C | A | 10 | a0003c0003 a0004c0005 a0005c0004 others(7): Show |
22 | HG00609.hp2 HG00741.hp1 HG01069.hp2 others(19): Show |
synonymous_variant | LOW | c.255G>T | p.Leu85Leu | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 341/1720 | 255/1431 | 85/476 | chr1 | 12942264 | |||
| chr1:12942450 | C | T | 2 | a0003c0003 a0016c0018 |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
synonymous_variant | LOW | c.69G>A | p.Leu23Leu | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 155/1720 | 69/1431 | 23/476 | chr1 | 12942450 | |||
| chr1:12942480 | T | C | 2 | a0003c0003 a0016c0018 |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
synonymous_variant | LOW | c.39A>G | p.Ala13Ala | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 125/1720 | 39/1431 | 13/476 | chr1 | 12942480 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:12938512 | C | G | 2 | a0003c0003t0004 a0016c0018t0004 |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*163G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 163 | chr1 | 12938512 | ||||||
| chr1:12938513 | C | A | 2 | a0003c0003t0004 a0016c0018t0004 |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*162G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 162 | chr1 | 12938513 | ||||||
| chr1:12938521 | G | A | 2 | a0003c0003t0004 a0016c0018t0004 |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*154C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 154 | chr1 | 12938521 | ||||||
| chr1:12938540 | C | T | 9 | a0003c0003t0004 a0004c0005t0002 a0006c0007t0003 others(6): Show |
20 | HG00609.hp2 HG00741.hp1 HG01069.hp2 others(17): Show |
3_prime_UTR_variant | MODIFIER | c.*135G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 135 | chr1 | 12938540 | ||||||
| chr1:12938572 | T | C | 2 | a0003c0003t0004 a0016c0018t0004 |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*103A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 103 | chr1 | 12938572 | ||||||
| chr1:12938592 | A | T | 2 | a0003c0003t0004 a0016c0018t0004 |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*83T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 83 | chr1 | 12938592 | ||||||
| chr1:12942524 | C | T | 2 | a0003c0003t0004 a0016c0018t0004 |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-6G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | chr1 | 12942524 | |||||||
| chr1:12942525 | G | T | 5 | a0004c0005t0002 a0005c0004t0005 a0011c0016t0002 others(2): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
5_prime_UTR_variant | MODIFIER | c.-7C>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 7 | chr1 | 12942525 | ||||||
| chr1:12947548 | T | A | 5 | a0004c0005t0002 a0005c0004t0005 a0011c0016t0002 others(2): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
5_prime_UTR_variant | MODIFIER | c.-54A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/4 | 5030 | chr1 | 12947548 | ||||||
| chr1:12947564 | A | G | 7 | a0004c0005t0002 a0005c0004t0005 a0011c0016t0002 others(4): Show |
13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-70T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/4 | chr1 | 12947564 | |||||||
| chr1:12947569 | G | A | 2 | a0003c0003t0004 a0016c0018t0004 |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
5_prime_UTR_variant | MODIFIER | c.-75C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/4 | 5051 | chr1 | 12947569 | ||||||
| chr1:12947575 | C | T | 1 | a0012c0014t0006 | 1 | HG01175.hp1 | 5_prime_UTR_variant | MODIFIER | c.-81G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/4 | 5057 | chr1 | 12947575 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:12939376 | A | C | 3 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0016c0018t0004g0046 |
5 | HG01261.hp2 HG03017.hp2 NA18970.hp2 others(2): Show |
intron_variant | MODIFIER | c.870-140T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939376 | |||||||
| chr1:12939397 | T | C | 17 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(14): Show |
21 | HG00609.hp2 HG00741.hp1 HG01069.hp2 others(18): Show |
intron_variant | MODIFIER | c.870-161A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939397 | |||||||
| chr1:12939426 | G | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-190C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939426 | |||||||
| chr1:12939427 | C | G | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-191G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939427 | |||||||
| chr1:12939459 | C | A | 5 | a0004c0005t0002g0014 a0004c0005t0002g0017 a0004c0005t0002g0020 others(2): Show |
5 | HG00609.hp2 HG01069.hp2 HG01993.hp2 others(2): Show |
intron_variant | MODIFIER | c.870-223G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939459 | |||||||
| chr1:12939535 | C | T | 1 | a0002c0002t0001g0030 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.870-299G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939535 | |||||||
| chr1:12939536 | C | G | 1 | a0015c0009t0007g0012 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.870-300G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939536 | |||||||
| chr1:12939637 | G | A | 1 | a0003c0003t0004g0044 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.870-401C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939637 | |||||||
| chr1:12939706 | T | TA | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-471dupT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939706 | |||||||
| chr1:12939706 | TA | T | 13 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(10): Show |
17 | HG00609.hp2 HG00741.hp1 HG01069.hp2 others(14): Show |
intron_variant | MODIFIER | c.870-471delT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939706 | |||||||
| chr1:12939721 | GA | G | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-486delT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939721 | |||||||
| chr1:12939752 | C | T | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-516G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939752 | |||||||
| chr1:12939871 | A | G | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-635T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939871 | |||||||
| chr1:12939886 | A | G | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-650T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939886 | |||||||
| chr1:12939909 | C | G | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-673G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939909 | |||||||
| chr1:12939917 | G | A | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.870-681C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939917 | |||||||
| chr1:12939938 | A | T | 2 | a0006c0007t0003g0010 a0006c0007t0003g0032 |
3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.870-702T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939938 | |||||||
| chr1:12939964 | T | C | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.870-728A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939964 | |||||||
| chr1:12939986 | C | G | 3 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0016c0018t0004g0046 |
5 | HG01261.hp2 HG03017.hp2 NA18970.hp2 others(2): Show |
intron_variant | MODIFIER | c.870-750G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939986 | |||||||
| chr1:12940021 | T | G | 1 | a0002c0002t0001g0023 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.870-785A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940021 | |||||||
| chr1:12940068 | C | G | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-832G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940068 | |||||||
| chr1:12940099 | G | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-863C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940099 | |||||||
| chr1:12940182 | A | G | 2 | a0006c0007t0003g0010 a0006c0007t0003g0032 |
3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.869+802T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940182 | |||||||
| chr1:12940187 | A | C | 1 | a0007c0006t0003g0005 | 3 | HG02486.hp1 HG02970.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.869+797T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940187 | |||||||
| chr1:12940225 | G | C | 1 | a0007c0006t0003g0005 | 3 | HG02486.hp1 HG02970.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.869+759C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940225 | |||||||
| chr1:12940409 | A | T | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+575T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940409 | |||||||
| chr1:12940434 | T | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+550A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940434 | |||||||
| chr1:12940435 | T | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+549A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940435 | |||||||
| chr1:12940436 | G | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+548C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940436 | |||||||
| chr1:12940440 | C | T | 1 | a0015c0009t0007g0012 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.869+544G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940440 | |||||||
| chr1:12940441 | G | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+543C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940441 | |||||||
| chr1:12940446 | G | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+538C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940446 | |||||||
| chr1:12940453 | C | G | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.869+531G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940453 | |||||||
| chr1:12940453 | C | T | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+531G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940453 | |||||||
| chr1:12940465 | G | C | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.869+519C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940465 | |||||||
| chr1:12940487 | A | C | 1 | a0015c0009t0007g0012 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.869+497T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940487 | |||||||
| chr1:12940504 | G | A | 3 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 |
5 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.869+480C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940504 | |||||||
| chr1:12940515 | T | G | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.869+469A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940515 | |||||||
| chr1:12940636 | C | T | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+348G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940636 | |||||||
| chr1:12940672 | A | G | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+312T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940672 | |||||||
| chr1:12940690 | A | G | 6 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(3): Show |
9 | HG00741.hp1 HG01071.hp1 HG01261.hp2 others(6): Show |
intron_variant | MODIFIER | c.869+294T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940690 | |||||||
| chr1:12940738 | C | G | 2 | a0006c0007t0003g0010 a0006c0007t0003g0032 |
3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.869+246G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940738 | |||||||
| chr1:12940760 | G | A | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.869+224C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940760 | |||||||
| chr1:12940846 | A | C | 1 | a0001c0001t0001g0039 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.869+138T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940846 | |||||||
| chr1:12940926 | C | T | 5 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(2): Show |
7 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(4): Show |
intron_variant | MODIFIER | c.869+58G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940926 | |||||||
| chr1:12940930 | T | G | 5 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(2): Show |
7 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(4): Show |
intron_variant | MODIFIER | c.869+54A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940930 | |||||||
| chr1:12940942 | C | T | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+42G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940942 | |||||||
| chr1:12940956 | G | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+28C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940956 | |||||||
| chr1:12940964 | A | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+20T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940964 | |||||||
| chr1:12941588 | A | C | 12 | a0001c0001t0001g0035 a0002c0002t0001g0004 a0002c0002t0001g0009 others(9): Show |
19 | HG00408.hp1 HG00621.hp2 HG00673.hp2 others(16): Show |
intron_variant | MODIFIER | c.288-23T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941588 | |||||||
| chr1:12941633 | C | G | 38 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0033 others(35): Show |
72 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(69): Show |
intron_variant | MODIFIER | c.288-68G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941633 | |||||||
| chr1:12941635 | T | G | 24 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0033 others(21): Show |
55 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(52): Show |
intron_variant | MODIFIER | c.288-70A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941635 | |||||||
| chr1:12941659 | C | G | 11 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0033 others(8): Show |
34 | HG00408.hp2 HG00438.hp2 HG00673.hp1 others(31): Show |
intron_variant | MODIFIER | c.288-94G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941659 | |||||||
| chr1:12941662 | C | G | 35 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0033 others(32): Show |
67 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(64): Show |
intron_variant | MODIFIER | c.288-97G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941662 | |||||||
| chr1:12941760 | A | G | 17 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(14): Show |
23 | HG00609.hp2 HG00741.hp1 HG01069.hp2 others(20): Show |
intron_variant | MODIFIER | c.288-195T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941760 | |||||||
| chr1:12941769 | G | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.288-204C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941769 | |||||||
| chr1:12941787 | G | A | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.288-222C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941787 | |||||||
| chr1:12941876 | A | T | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.288-311T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941876 | |||||||
| chr1:12941880 | C | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.288-315G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941880 | |||||||
| chr1:12941892 | T | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.288-327A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941892 | |||||||
| chr1:12941899 | T | G | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+333A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941899 | |||||||
| chr1:12941949 | G | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+283C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941949 | |||||||
| chr1:12942061 | A | C | 1 | a0011c0016t0002g0015 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.287+171T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942061 | |||||||
| chr1:12942132 | C | G | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+100G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942132 | |||||||
| chr1:12942138 | C | G | 12 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(9): Show |
13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
intron_variant | MODIFIER | c.287+94G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942138 | |||||||
| chr1:12942163 | G | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+69C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942163 | |||||||
| chr1:12942171 | A | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+61T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942171 | |||||||
| chr1:12942177 | C | G | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+55G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942177 | |||||||
| chr1:12942184 | T | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+48A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942184 | |||||||
| chr1:12942185 | G | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+47C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942185 | |||||||
| chr1:12942192 | T | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+40A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942192 | |||||||
| chr1:12942203 | T | C | 2 | a0001c0001t0001g0003 a0001c0001t0001g0039 |
7 | HG00609.hp1 HG02132.hp1 HG02165.hp2 others(4): Show |
intron_variant | MODIFIER | c.287+29A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942203 | |||||||
| chr1:12942560 | G | A | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-22-20C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942560 | |||||||
| chr1:12942582 | C | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-42G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942582 | |||||||
| chr1:12942593 | C | A | 1 | a0003c0003t0004g0044 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-22-53G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942593 | |||||||
| chr1:12942599 | T | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-59A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942599 | |||||||
| chr1:12942609 | C | G | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-69G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942609 | |||||||
| chr1:12942611 | A | G | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-71T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942611 | |||||||
| chr1:12942647 | C | T | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-22-107G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942647 | |||||||
| chr1:12942669 | C | T | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-129G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942669 | |||||||
| chr1:12942695 | C | T | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-22-155G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942695 | |||||||
| chr1:12942757 | G | T | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-217C>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942757 | |||||||
| chr1:12942773 | T | G | 1 | a0002c0002t0001g0024 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-22-233A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942773 | |||||||
| chr1:12942830 | T | TA | 2 | a0006c0007t0003g0010 a0006c0007t0003g0032 |
3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-22-291dupT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942830 | |||||||
| chr1:12942884 | A | G | 16 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(13): Show |
19 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(16): Show |
intron_variant | MODIFIER | c.-22-344T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942884 | |||||||
| chr1:12942914 | G | A | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-22-374C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942914 | |||||||
| chr1:12942929 | C | T | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-389G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942929 | |||||||
| chr1:12942962 | C | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-422G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942962 | |||||||
| chr1:12943049 | T | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-509A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943049 | |||||||
| chr1:12943059 | C | G | 1 | a0002c0002t0001g0025 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.-22-519G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943059 | |||||||
| chr1:12943075 | C | A | 1 | a0002c0002t0001g0008 | 2 | NA19060.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.-22-535G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943075 | |||||||
| chr1:12943077 | CTCTT | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-541_-22-538del others(4): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943077 | |||||||
| chr1:12943178 | A | ACT | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-640_-22-639dup others(2): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943178 | |||||||
| chr1:12943194 | T | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-654A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943194 | |||||||
| chr1:12943208 | T | C | 39 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0033 others(36): Show |
73 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(70): Show |
intron_variant | MODIFIER | c.-22-668A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943208 | |||||||
| chr1:12943237 | G | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-697C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943237 | |||||||
| chr1:12943261 | G | A | 1 | a0004c0005t0002g0020 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.-22-721C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943261 | |||||||
| chr1:12943281 | TC | T | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-742delG | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943281 | |||||||
| chr1:12943308 | G | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-768C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943308 | |||||||
| chr1:12943316 | T | A | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-776A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943316 | |||||||
| chr1:12943424 | G | C | 17 | a0002c0002t0001g0026 a0003c0003t0004g0006 a0003c0003t0004g0044 others(14): Show |
20 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(17): Show |
intron_variant | MODIFIER | c.-22-884C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943424 | |||||||
| chr1:12943465 | A | G | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-925T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943465 | |||||||
| chr1:12943470 | T | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-930A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943470 | |||||||
| chr1:12943579 | G | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-1039C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943579 | |||||||
| chr1:12943590 | T | C | 1 | a0002c0002t0001g0027 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.-22-1050A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943590 | |||||||
| chr1:12943639 | G | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-1099C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943639 | |||||||
| chr1:12943650 | A | T | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-22-1110T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943650 | |||||||
| chr1:12943676 | G | A | 2 | a0002c0002t0001g0009 a0002c0002t0001g0031 |
3 | HG00408.hp1 HG00621.hp2 HG00673.hp2 |
intron_variant | MODIFIER | c.-22-1136C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943676 | |||||||
| chr1:12943710 | T | G | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-1170A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943710 | |||||||
| chr1:12943848 | G | A | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-1308C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943848 | |||||||
| chr1:12943849 | G | C | 1 | a0013c0012t0001g0040 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-22-1309C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943849 | |||||||
| chr1:12943876 | CAG | C | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-1338_-22-1337d others(4): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943876 | |||||||
| chr1:12943978 | T | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-1438A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943978 | |||||||
| chr1:12943993 | A | T | 1 | a0017c0010t0008g0013 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-22-1453T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943993 | |||||||
| chr1:12944015 | C | T | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-1475G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944015 | |||||||
| chr1:12944050 | G | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-1510C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944050 | |||||||
| chr1:12944074 | AAGTCCTG others(2144): Show |
A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+1292_-22-1535d others(2): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944074 | |||||||
| chr1:12944091 | C | T | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-1551G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944091 | |||||||
| chr1:12944198 | G | A | 12 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(9): Show |
13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
intron_variant | MODIFIER | c.-22-1658C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944198 | |||||||
| chr1:12944215 | G | A | 16 | a0001c0001t0001g0043 a0004c0005t0002g0014 a0004c0005t0002g0016 others(13): Show |
18 | HG00423.hp1 HG00438.hp1 HG00609.hp2 others(15): Show |
intron_variant | MODIFIER | c.-22-1675C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944215 | |||||||
| chr1:12944354 | T | A | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-1814A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944354 | |||||||
| chr1:12944368 | G | A | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-1828C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944368 | |||||||
| chr1:12944443 | T | C | 12 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(9): Show |
13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
intron_variant | MODIFIER | c.-22-1903A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944443 | |||||||
| chr1:12944473 | G | A | 1 | a0004c0005t0002g0014 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.-22-1933C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944473 | |||||||
| chr1:12944499 | A | G | 2 | a0006c0007t0003g0010 a0006c0007t0003g0032 |
3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-22-1959T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944499 | |||||||
| chr1:12944565 | G | A | 1 | a0017c0010t0008g0013 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-22-2025C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944565 | |||||||
| chr1:12944614 | T | G | 1 | a0012c0014t0006g0011 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-22-2074A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944614 | |||||||
| chr1:12944638 | A | C | 2 | a0006c0007t0003g0010 a0006c0007t0003g0032 |
3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-22-2098T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944638 | |||||||
| chr1:12944649 | G | A | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-2109C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944649 | |||||||
| chr1:12944685 | AT | A | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-2146delA | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944685 | |||||||
| chr1:12944688 | T | A | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-22-2148A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944688 | |||||||
| chr1:12944749 | A | G | 3 | a0002c0002t0001g0002 a0015c0009t0007g0012 a0017c0010t0008g0013 |
7 | HG00423.hp2 HG00735.hp1 HG01123.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22-2209T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944749 | |||||||
| chr1:12944757 | G | A | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-2217C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944757 | |||||||
| chr1:12944845 | C | G | 2 | a0006c0007t0003g0010 a0006c0007t0003g0032 |
3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-22-2305G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944845 | |||||||
| chr1:12944923 | G | A | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-2383C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944923 | |||||||
| chr1:12945043 | C | T | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-23+2474G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945043 | |||||||
| chr1:12945137 | A | T | 2 | a0005c0004t0005g0007 a0005c0004t0005g0022 |
2 | NA18971.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.-23+2380T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945137 | |||||||
| chr1:12945138 | G | T | 2 | a0005c0004t0005g0007 a0005c0004t0005g0022 |
2 | NA18971.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.-23+2379C>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945138 | |||||||
| chr1:12945250 | G | A | 1 | a0001c0001t0001g0001 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-23+2267C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945250 | |||||||
| chr1:12945283 | T | C | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-23+2234A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945283 | |||||||
| chr1:12945384 | T | A | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-23+2133A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945384 | |||||||
| chr1:12945411 | T | C | 12 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(9): Show |
13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
intron_variant | MODIFIER | c.-23+2106A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945411 | |||||||
| chr1:12945507 | T | A | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-23+2010A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945507 | |||||||
| chr1:12945510 | G | A | 1 | a0017c0010t0008g0013 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-23+2007C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945510 | |||||||
| chr1:12945510 | G | T | 14 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(11): Show |
18 | HG00609.hp2 HG00741.hp1 HG01069.hp2 others(15): Show |
intron_variant | MODIFIER | c.-23+2007C>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945510 | |||||||
| chr1:12945579 | T | C | 1 | a0007c0006t0003g0005 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-23+1938A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945579 | |||||||
| chr1:12945653 | A | C | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-23+1864T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945653 | |||||||
| chr1:12945696 | A | T | 1 | a0002c0002t0001g0002 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.-23+1821T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945696 | |||||||
| chr1:12945758 | T | A | 12 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(9): Show |
13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
intron_variant | MODIFIER | c.-23+1759A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945758 | |||||||
| chr1:12945825 | T | C | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-23+1692A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945825 | |||||||
| chr1:12945843 | C | T | 2 | a0006c0007t0003g0010 a0006c0007t0003g0032 |
3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-23+1674G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945843 | |||||||
| chr1:12945860 | T | C | 35 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0033 others(32): Show |
67 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(64): Show |
intron_variant | MODIFIER | c.-23+1657A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945860 | |||||||
| chr1:12945980 | C | CAAAAA | 4 | a0005c0004t0005g0007 a0005c0004t0005g0021 a0005c0004t0005g0022 others(1): Show |
4 | HG03654.hp2 NA19011.hp2 NA19054.hp1 others(1): Show |
intron_variant | MODIFIER | c.-23+1532_-23+1536d others(7): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945980 | |||||||
| chr1:12945980 | CA | C | 3 | a0002c0002t0001g0002 a0002c0002t0001g0026 a0006c0007t0003g0032 |
5 | HG02027.hp1 HG02293.hp2 NA19005.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+1536delT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945980 | |||||||
| chr1:12945980 | CAAA | C | 6 | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0039 others(3): Show |
8 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(5): Show |
intron_variant | MODIFIER | c.-23+1534_-23+1536d others(5): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945980 | |||||||
| chr1:12945980 | CAAAA | C | 14 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0035 others(11): Show |
36 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(33): Show |
intron_variant | MODIFIER | c.-23+1533_-23+1536d others(6): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945980 | |||||||
| chr1:12945980 | CAAAAA | C | 3 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0008c0008t0001g0036 |
6 | HG01993.hp1 HG02132.hp1 HG02132.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+1532_-23+1536d others(7): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945980 | |||||||
| chr1:12945980 | CAAAAAAA others(12): Show |
C | 1 | a0017c0010t0008g0013 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-23+1518_-23+1536d others(21): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945980 | |||||||
| chr1:12946193 | CAAA | C | 12 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(9): Show |
13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
intron_variant | MODIFIER | c.-23+1321_-23+1323d others(5): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946193 | |||||||
| chr1:12946208 | T | G | 12 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(9): Show |
13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
intron_variant | MODIFIER | c.-23+1309A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946208 | |||||||
| chr1:12946283 | A | AAG | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+1233_-23+1234i others(4): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946283 | |||||||
| chr1:12946316 | C | T | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+1201G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946316 | |||||||
| chr1:12946362 | C | T | 1 | a0017c0010t0008g0013 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-23+1155G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946362 | |||||||
| chr1:12946363 | A | C | 1 | a0017c0010t0008g0013 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-23+1154T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946363 | |||||||
| chr1:12946456 | G | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+1061C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946456 | |||||||
| chr1:12946592 | C | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+925G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946592 | |||||||
| chr1:12946613 | T | C | 2 | a0006c0007t0003g0010 a0006c0007t0003g0032 |
3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-23+904A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946613 | |||||||
| chr1:12946674 | T | G | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+843A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946674 | |||||||
| chr1:12946679 | A | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+838T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946679 | |||||||
| chr1:12946699 | T | A | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-23+818A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946699 | |||||||
| chr1:12946777 | G | A | 1 | a0001c0001t0001g0041 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.-23+740C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946777 | |||||||
| chr1:12946779 | G | T | 1 | a0001c0001t0001g0033 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.-23+738C>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946779 | |||||||
| chr1:12946815 | C | G | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+702G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946815 | |||||||
| chr1:12946819 | G | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+698C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946819 | |||||||
| chr1:12946834 | T | A | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-23+683A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946834 | |||||||
| chr1:12946835 | C | A | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-23+682G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946835 | |||||||
| chr1:12946852 | T | TA | 2 | a0004c0005t0002g0014 a0005c0004t0005g0021 |
2 | NA18943.hp2 NA19054.hp1 |
intron_variant | MODIFIER | c.-23+664dupT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946852 | |||||||
| chr1:12946853 | A | T | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+664T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946853 | |||||||
| chr1:12946856 | AT | A | 2 | a0016c0018t0004g0046 a0017c0010t0008g0013 |
2 | NA19077.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-23+660delA | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946856 | |||||||
| chr1:12946857 | T | A | 14 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(11): Show |
17 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(14): Show |
intron_variant | MODIFIER | c.-23+660A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946857 | |||||||
| chr1:12946889 | C | T | 1 | a0004c0005t0002g0014 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.-23+628G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946889 | |||||||
| chr1:12946943 | C | G | 1 | a0003c0003t0004g0044 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-23+574G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946943 | |||||||
| chr1:12946952 | G | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+565C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946952 | |||||||
| chr1:12947055 | G | C | 1 | a0002c0002t0001g0028 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.-23+462C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947055 | |||||||
| chr1:12947068 | G | A | 3 | a0006c0007t0003g0010 a0006c0007t0003g0032 a0007c0006t0003g0005 |
6 | HG00741.hp1 HG01071.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.-23+449C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947068 | |||||||
| chr1:12947083 | G | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+434C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947083 | |||||||
| chr1:12947104 | T | G | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+413A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947104 | |||||||
| chr1:12947164 | C | CA | 7 | a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 others(4): Show |
7 | HG00621.hp2 HG01123.hp2 NA19005.hp2 others(4): Show |
intron_variant | MODIFIER | c.-23+352dupT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947164 | |||||||
| chr1:12947195 | C | T | 10 | a0004c0005t0002g0014 a0004c0005t0002g0016 a0004c0005t0002g0017 others(7): Show |
11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-23+322G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947195 | |||||||
| chr1:12947209 | C | T | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+308G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947209 | |||||||
| chr1:12947281 | A | G | 2 | a0015c0009t0007g0012 a0017c0010t0008g0013 |
2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-23+236T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947281 | |||||||
| chr1:12947303 | C | A | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+214G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947303 | |||||||
| chr1:12947382 | C | CA | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+134dupT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947382 | |||||||
| chr1:12947403 | G | GA | 5 | a0001c0001t0001g0043 a0003c0003t0004g0006 a0003c0003t0004g0044 others(2): Show |
7 | HG00438.hp1 HG01261.hp2 HG01433.hp2 others(4): Show |
intron_variant | MODIFIER | c.-23+113dupT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947403 | |||||||
| chr1:12947447 | C | T | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+70G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947447 | |||||||
| chr1:12947458 | T | C | 4 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+59A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947458 | |||||||
| chr1:12947511 | G | A | 28 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0033 others(25): Show |
54 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(51): Show |
splice_region_variant&intron_variant | LOW | c.-23+6C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947511 |