Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 343068 |
| ensemblid | ENSG00000270601.5 |
| hgncid | 27995 |
| symbol | PRAMEF5 |
| name | PRAME family member 5 |
| refseq_nuc | NM_001013407.5 |
| refseq_prot | NP_001013425.2 |
| ensembl_nuc | ENST00000622421.3 |
| ensembl_prot | ENSP00000480122.1 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 13254198 |
| end | 13263435 |
| strand | + |
| ver | v1.2 |
| region | chr1:13254198-13263435 |
| region5000 | chr1:13249198-13268435 |
| regionname0 | PRAMEF5_chr1_13254198_13263435 |
| regionname5000 | PRAMEF5_chr1_13249198_13268435 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 476 | 36 | 5 | 7 | 18 | 2 | 4 | 16 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0002 | 0/0 | 476 | 32 | 2 | 11 | 15 | 1 | 3 | 11 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0003 | 0/0 | 476 | 20 | 0 | 2 | 16 | 0 | 2 | 12 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MNIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0004 | 0/0 | 476 | 10 | 2 | 0 | 8 | 0 | 0 | 7 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0005 | 0/0 | 476 | 9 | 1 | 2 | 4 | 1 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0006 | 0/0 | 476 | 6 | 0 | 2 | 4 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0007 | 0/0 | 476 | 4 | 0 | 0 | 4 | 0 | 0 | 3 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0008 | 0/0 | 476 | 4 | 0 | 0 | 3 | 0 | 1 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0009 | 0/0 | 476 | 4 | 1 | 0 | 2 | 0 | 1 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0010 | 0/0 | 476 | 4 | 0 | 0 | 4 | 0 | 0 | 4 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0011 | 0/0 | 476 | 3 | 0 | 0 | 0 | 1 | 2 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0012 | 0/0 | 476 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0013 | 0/0 | 476 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0014 | 0/0 | 476 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0015 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0016 | 0/0 | 476 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0017 | 0/0 | 476 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0018 | 0/0 | 476 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0019 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0020 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(471): Show |
chr1 | 13249198 | 13268435 |
| a0021 | 0/0 | 427 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | MSIRT others(422): Show |
chr1 | 13249198 | 13268435 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1428 | 36 | 5 | 7 | 18 | 2 | 4 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0002c0002 | 0/0 | 1428 | 32 | 2 | 11 | 15 | 1 | 3 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0003c0003 | 0/0 | 1428 | 17 | 0 | 2 | 13 | 0 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAA others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0003c0012 | 0/0 | 1428 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAA others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0003c0013 | 0/0 | 1428 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAA others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0004c0005 | 0/0 | 1428 | 9 | 1 | 0 | 8 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0004c0022 | 0/0 | 1428 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0005c0004 | 0/0 | 1428 | 9 | 1 | 2 | 4 | 1 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0006c0006 | 0/0 | 1428 | 6 | 0 | 2 | 4 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0007c0008 | 0/0 | 1428 | 4 | 0 | 0 | 4 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0008c0009 | 0/0 | 1428 | 4 | 0 | 0 | 3 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0009c0010 | 0/0 | 1428 | 3 | 1 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0009c0017 | 0/0 | 1428 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0010c0007 | 0/0 | 1428 | 4 | 0 | 0 | 4 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0011c0011 | 0/0 | 1428 | 3 | 0 | 0 | 0 | 1 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0012c0019 | 0/0 | 1428 | 1 | 0 | 0 | 0 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0013c0023 | 0/0 | 1428 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0014c0014 | 0/0 | 1428 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0015c0020 | 0/0 | 1428 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0016c0025 | 0/0 | 1428 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0017c0015 | 0/0 | 1428 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0018c0016 | 0/0 | 1428 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0019c0024 | 0/0 | 1428 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0020c0018 | 0/0 | 1428 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 | ||
| a0021c0021 | 0/0 | 1428 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ATGAG others(1423): Show |
chr1 | 13249198 | 13268435 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1855 | 36 | 5 | 7 | 18 | 2 | 4 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0002c0002t0002 | 0/0 | 1855 | 32 | 2 | 11 | 15 | 1 | 3 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0003c0003t0001 | 0/0 | 1855 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0003c0003t0003 | 0/0 | 1855 | 16 | 0 | 2 | 12 | 0 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0003c0012t0003 | 0/0 | 1855 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0003c0013t0003 | 0/0 | 1855 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0004c0005t0005 | 0/0 | 1855 | 9 | 1 | 0 | 8 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0004c0022t0008 | 0/0 | 1855 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0005c0004t0004 | 0/0 | 1855 | 9 | 1 | 2 | 4 | 1 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0006c0006t0004 | 0/0 | 1855 | 6 | 0 | 2 | 4 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0007c0008t0002 | 0/0 | 1855 | 3 | 0 | 0 | 3 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0007c0008t0011 | 0/0 | 1855 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0008c0009t0006 | 0/0 | 1855 | 4 | 0 | 0 | 3 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0009c0010t0001 | 0/0 | 1855 | 2 | 1 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0009c0010t0010 | 0/0 | 1855 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0009c0017t0001 | 0/0 | 1855 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0010c0007t0005 | 0/0 | 1855 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0010c0007t0009 | 0/0 | 1855 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0011c0011t0007 | 0/0 | 1855 | 3 | 0 | 0 | 0 | 1 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0012c0019t0001 | 0/0 | 1855 | 1 | 0 | 0 | 0 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0013c0023t0002 | 0/0 | 1855 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0014c0014t0006 | 0/0 | 1855 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0015c0020t0001 | 0/0 | 1855 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0016c0025t0001 | 0/0 | 1855 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0017c0015t0008 | 0/0 | 1855 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0018c0016t0001 | 0/0 | 1855 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0019c0024t0002 | 0/0 | 1855 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0020c0018t0010 | 0/0 | 1855 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| a0021c0021t0004 | 0/0 | 1855 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | ACCCA others(1850): Show |
chr1 | 13249198 | 13268435 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 26 | 2 | 3 | 15 | 2 | 4 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0001c0001t0001g0008 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0001c0001t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0001c0001t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0001c0001t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0002c0002t0002g0002 | 0/0 | 14 | 1 | 6 | 5 | 0 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0002c0002t0002g0004 | 0/0 | 6 | 1 | 3 | 1 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0002c0002t0002g0013 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0002c0002t0002g0014 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0002c0002t0002g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0002c0002t0002g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0002c0002t0002g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0002c0002t0002g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0002c0002t0002g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0002c0002t0002g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0002c0002t0002g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0002c0002t0002g0051 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0003c0003t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0003c0003t0003g0003 | 0/0 | 15 | 0 | 2 | 11 | 0 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0003c0003t0003g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0003c0012t0003g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0003c0012t0003g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0003c0013t0003g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0004c0005t0005g0006 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0004c0005t0005g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0004c0005t0005g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0004c0005t0005g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0004c0005t0005g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0004c0022t0008g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0005c0004t0004g0005 | 0/0 | 6 | 0 | 2 | 2 | 1 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0005c0004t0004g0015 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0005c0004t0004g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0006c0006t0004g0009 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0006c0006t0004g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0006c0006t0004g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0006c0006t0004g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0006c0006t0004g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0007c0008t0002g0002 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0007c0008t0011g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0008c0009t0006g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0008c0009t0006g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0008c0009t0006g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0008c0009t0006g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0009c0010t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0009c0010t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0009c0010t0010g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0009c0017t0001g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0010c0007t0005g0007 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0010c0007t0009g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0010c0007t0009g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0011c0011t0007g0011 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0011c0011t0007g0041 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0012c0019t0001g0001 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0013c0023t0002g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0014c0014t0006g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0015c0020t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0016c0025t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0017c0015t0008g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0018c0016t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0019c0024t0002g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0020c0018t0010g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| a0021c0021t0004g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0011 | c0011 | t0007 | g0041 | EUR | GBR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG00140 | hp2 | a0012 | c0019 | t0001 | g0001 | EUR | GBR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG00438 | hp1 | a0007 | c0008 | t0002 | g0002 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG00438 | hp2 | a0002 | c0002 | t0002 | g0013 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG00558 | hp1 | a0003 | c0003 | t0003 | g0003 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG00558 | hp2 | a0003 | c0003 | t0003 | g0003 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG00597 | hp1 | a0008 | c0009 | t0006 | g0054 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG00597 | hp2 | a0005 | c0004 | t0004 | g0005 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG00609 | hp1 | a0002 | c0002 | t0002 | g0048 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG00609 | hp2 | a0004 | c0005 | t0005 | g0021 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG00621 | hp2 | a0006 | c0006 | t0004 | g0024 | EAS | CHS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG00733 | hp1 | a0002 | c0002 | t0002 | g0045 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG00733 | hp2 | a0002 | c0002 | t0002 | g0004 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG00738 | hp1 | a0002 | c0002 | t0002 | g0002 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG00738 | hp2 | a0005 | c0004 | t0004 | g0005 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01069 | hp2 | a0013 | c0023 | t0002 | g0043 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01099 | hp2 | a0002 | c0002 | t0002 | g0002 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01106 | hp1 | a0005 | c0004 | t0004 | g0005 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01106 | hp2 | a0014 | c0014 | t0006 | g0057 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01168 | hp2 | a0006 | c0006 | t0004 | g0023 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0028 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01175 | hp2 | a0002 | c0002 | t0002 | g0004 | AMR | PUR | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01257 | hp2 | a0002 | c0002 | t0002 | g0004 | AMR | CLM | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01346 | hp1 | a0002 | c0002 | t0002 | g0002 | AMR | CLM | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01346 | hp2 | a0002 | c0002 | t0002 | g0002 | AMR | CLM | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01361 | hp1 | a0002 | c0002 | t0002 | g0014 | AMR | CLM | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01361 | hp2 | a0001 | c0001 | t0001 | g0033 | AMR | CLM | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01515 | hp2 | a0005 | c0004 | t0004 | g0005 | EUR | IBS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01517 | hp2 | a0002 | c0002 | t0002 | g0051 | EUR | IBS | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01934 | hp1 | a0003 | c0003 | t0003 | g0003 | AMR | PEL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01934 | hp2 | a0002 | c0002 | t0002 | g0002 | AMR | PEL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01978 | hp1 | a0003 | c0003 | t0003 | g0003 | AMR | PEL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02027 | hp1 | a0006 | c0006 | t0004 | g0039 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02027 | hp2 | a0002 | c0002 | t0002 | g0002 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02056 | hp1 | a0015 | c0020 | t0001 | g0001 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02056 | hp2 | a0003 | c0013 | t0003 | g0003 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02129 | hp1 | a0005 | c0004 | t0004 | g0005 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02129 | hp2 | a0009 | c0010 | t0001 | g0038 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02132 | hp1 | a0005 | c0004 | t0004 | g0015 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02132 | hp2 | a0002 | c0002 | t0002 | g0050 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02135 | hp2 | a0003 | c0003 | t0003 | g0003 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02258 | hp1 | a0009 | c0010 | t0001 | g0036 | AFR | ACB | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02258 | hp2 | a0002 | c0002 | t0002 | g0002 | AFR | ACB | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02293 | hp1 | a0006 | c0006 | t0004 | g0009 | AMR | PEL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02293 | hp2 | a0002 | c0002 | t0002 | g0002 | AMR | PEL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02523 | hp1 | a0006 | c0006 | t0004 | g0010 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02523 | hp2 | a0005 | c0004 | t0004 | g0015 | EAS | KHV | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02738 | hp1 | a0002 | c0002 | t0002 | g0002 | SAS | PJL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02738 | hp2 | a0005 | c0004 | t0004 | g0005 | SAS | PJL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02896 | hp1 | a0016 | c0025 | t0001 | g0030 | AFR | GWD | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0034 | AFR | ESN | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG02970 | hp2 | a0004 | c0022 | t0008 | g0016 | AFR | ESN | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG03139 | hp1 | a0017 | c0015 | t0008 | g0040 | AFR | ESN | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0026 | AFR | ESN | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG03516 | hp1 | a0004 | c0005 | t0005 | g0019 | AFR | ESN | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0031 | AFR | ESN | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG03540 | hp1 | a0018 | c0016 | t0001 | g0035 | AFR | GWD | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG03540 | hp2 | a0002 | c0002 | t0002 | g0004 | AFR | GWD | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG03669 | hp1 | a0008 | c0009 | t0006 | g0056 | SAS | PJL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG03669 | hp2 | a0011 | c0011 | t0007 | g0011 | SAS | PJL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG03704 | hp2 | a0002 | c0002 | t0002 | g0004 | SAS | PJL | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG03831 | hp1 | a0003 | c0003 | t0003 | g0003 | SAS | BEB | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG03834 | hp2 | a0002 | c0002 | t0002 | g0002 | SAS | BEB | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG04184 | hp1 | a0011 | c0011 | t0007 | g0011 | SAS | BEB | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG04184 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG04204 | hp1 | a0009 | c0017 | t0001 | g0037 | SAS | STU | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| HG04204 | hp2 | a0003 | c0003 | t0003 | g0003 | SAS | STU | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18943 | hp1 | a0002 | c0002 | t0002 | g0049 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18943 | hp2 | a0007 | c0008 | t0011 | g0002 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18949 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18949 | hp2 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18953 | hp1 | a0004 | c0005 | t0005 | g0006 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18953 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18957 | hp1 | a0003 | c0003 | t0003 | g0017 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18957 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18959 | hp1 | a0010 | c0007 | t0009 | g0047 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18959 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18968 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18968 | hp2 | a0003 | c0003 | t0003 | g0003 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18971 | hp1 | a0010 | c0007 | t0009 | g0004 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18971 | hp2 | a0004 | c0005 | t0005 | g0006 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18973 | hp2 | a0003 | c0003 | t0003 | g0003 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18974 | hp1 | a0007 | c0008 | t0002 | g0002 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18974 | hp2 | a0010 | c0007 | t0005 | g0007 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18975 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18975 | hp2 | a0003 | c0003 | t0003 | g0003 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18976 | hp1 | a0009 | c0010 | t0010 | g0012 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18976 | hp2 | a0004 | c0005 | t0005 | g0006 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18983 | hp1 | a0002 | c0002 | t0002 | g0046 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18983 | hp2 | a0019 | c0024 | t0002 | g0004 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18987 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18987 | hp2 | a0003 | c0003 | t0003 | g0003 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18988 | hp1 | a0004 | c0005 | t0005 | g0006 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18988 | hp2 | a0020 | c0018 | t0010 | g0012 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18990 | hp1 | a0003 | c0003 | t0003 | g0003 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18998 | hp1 | a0002 | c0002 | t0002 | g0004 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA18998 | hp2 | a0003 | c0012 | t0003 | g0003 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19002 | hp2 | a0003 | c0003 | t0003 | g0003 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19003 | hp2 | a0002 | c0002 | t0002 | g0013 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19004 | hp1 | a0002 | c0002 | t0002 | g0044 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19004 | hp2 | a0002 | c0002 | t0002 | g0042 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19059 | hp1 | a0010 | c0007 | t0005 | g0007 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19059 | hp2 | a0007 | c0008 | t0002 | g0002 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19060 | hp2 | a0006 | c0006 | t0004 | g0009 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19062 | hp1 | a0004 | c0005 | t0005 | g0006 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19062 | hp2 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19065 | hp1 | a0003 | c0003 | t0003 | g0003 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19066 | hp1 | a0003 | c0003 | t0001 | g0027 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19076 | hp1 | a0021 | c0021 | t0004 | g0010 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19076 | hp2 | a0002 | c0002 | t0002 | g0014 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19079 | hp1 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19079 | hp2 | a0004 | c0005 | t0005 | g0022 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19080 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19080 | hp2 | a0003 | c0012 | t0003 | g0018 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19082 | hp1 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19082 | hp2 | a0003 | c0003 | t0003 | g0003 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19089 | hp1 | a0008 | c0009 | t0006 | g0055 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19089 | hp2 | a0008 | c0009 | t0006 | g0053 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19090 | hp1 | a0004 | c0005 | t0005 | g0020 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA19090 | hp2 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA20300 | hp1 | a0005 | c0004 | t0004 | g0052 | AFR | USA | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | USA | PRAMEF5_chr1_13249198_13268435 | PRAMEF5 | chr1 | 13249198 | 13268435 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:13259273 | G | A | 1 | a0003 | 20 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(17): Show |
missense_variant | MODERATE | c.5G>A | p.Ser2Asn | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 105/1855 | 5/1431 | 2/476 | chr1 | 13259273 | |||
| chr1:13259315 | G | A | 1 | a0005 | 9 | HG00597.hp2 HG00738.hp2 HG01106.hp1 others(6): Show |
missense_variant | MODERATE | c.47G>A | p.Ser16Asn | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 147/1855 | 47/1431 | 16/476 | chr1 | 13259315 | |||
| chr1:13259330 | A | C | 1 | a0016 | 1 | HG02896.hp1 | missense_variant | MODERATE | c.62A>C | p.Gln21Pro | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 162/1855 | 62/1431 | 21/476 | chr1 | 13259330 | |||
| chr1:13259339 | C | A | 1 | a0017 | 1 | HG03139.hp1 | missense_variant | MODERATE | c.71C>A | p.Ala24Asp | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 171/1855 | 71/1431 | 24/476 | chr1 | 13259339 | |||
| chr1:13259389 | A | C | 9 | a0002 a0003 a0004 others(6): Show |
74 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(71): Show |
missense_variant | MODERATE | c.121A>C | p.Met41Leu | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 221/1855 | 121/1431 | 41/476 | chr1 | 13259389 | |||
| chr1:13259414 | G | A | 1 | a0014 | 1 | HG01106.hp2 | missense_variant | MODERATE | c.146G>A | p.Cys49Tyr | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 246/1855 | 146/1431 | 49/476 | chr1 | 13259414 | |||
| chr1:13259452 | C | T | 2 | a0017 a0019 |
2 | HG03139.hp1 NA18983.hp2 |
missense_variant | MODERATE | c.184C>T | p.Arg62Cys | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 284/1855 | 184/1431 | 62/476 | chr1 | 13259452 | |||
| chr1:13259541 | A | T | 1 | a0014 | 1 | HG01106.hp2 | missense_variant | MODERATE | c.273A>T | p.Gln91His | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 373/1855 | 273/1431 | 91/476 | chr1 | 13259541 | |||
| chr1:13259549 | A | G | 2 | a0008 a0014 |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
missense_variant | MODERATE | c.281A>G | p.His94Arg | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 381/1855 | 281/1431 | 94/476 | chr1 | 13259549 | |||
| chr1:13260299 | A | G | 6 | a0005 a0006 a0008 others(3): Show |
22 | HG00597.hp1 HG00597.hp2 HG00621.hp2 others(19): Show |
missense_variant | MODERATE | c.365A>G | p.His122Arg | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 465/1855 | 365/1431 | 122/476 | chr1 | 13260299 | |||
| chr1:13260332 | A | C | 5 | a0005 a0006 a0013 others(2): Show |
18 | HG00597.hp2 HG00621.hp2 HG00738.hp2 others(15): Show |
missense_variant | MODERATE | c.398A>C | p.Lys133Thr | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 498/1855 | 398/1431 | 133/476 | chr1 | 13260332 | |||
| chr1:13260365 | A | G | 8 | a0002 a0003 a0004 others(5): Show |
73 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(70): Show |
missense_variant | MODERATE | c.431A>G | p.Gln144Arg | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 531/1855 | 431/1431 | 144/476 | chr1 | 13260365 | |||
| chr1:13260421 | T | C | 3 | a0008 a0011 a0014 |
8 | HG00140.hp1 HG00597.hp1 HG01106.hp2 others(5): Show |
missense_variant | MODERATE | c.487T>C | p.Tyr163His | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 587/1855 | 487/1431 | 163/476 | chr1 | 13260421 | |||
| chr1:13260431 | G | A | 8 | a0002 a0003 a0004 others(5): Show |
73 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(70): Show |
missense_variant | MODERATE | c.497G>A | p.Cys166Tyr | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 597/1855 | 497/1431 | 166/476 | chr1 | 13260431 | |||
| chr1:13260471 | C | G | 1 | a0015 | 1 | HG02056.hp1 | missense_variant | MODERATE | c.537C>G | p.His179Gln | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 637/1855 | 537/1431 | 179/476 | chr1 | 13260471 | |||
| chr1:13260583 | G | A | 1 | a0017 | 1 | HG03139.hp1 | missense_variant | MODERATE | c.649G>A | p.Val217Ile | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 749/1855 | 649/1431 | 217/476 | chr1 | 13260583 | |||
| chr1:13260736 | T | C | 2 | a0008 a0014 |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
missense_variant | MODERATE | c.802T>C | p.Cys268Arg | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 902/1855 | 802/1431 | 268/476 | chr1 | 13260736 | |||
| chr1:13260736 | T | G | 1 | a0018 | 1 | HG03540.hp1 | missense_variant | MODERATE | c.802T>G | p.Cys268Gly | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 902/1855 | 802/1431 | 268/476 | chr1 | 13260736 | |||
| chr1:13260755 | C | A | 2 | a0008 a0014 |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
missense_variant | MODERATE | c.821C>A | p.Ser274Tyr | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 921/1855 | 821/1431 | 274/476 | chr1 | 13260755 | |||
| chr1:13260778 | G | A | 1 | a0017 | 1 | HG03139.hp1 | missense_variant | MODERATE | c.844G>A | p.Glu282Lys | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 944/1855 | 844/1431 | 282/476 | chr1 | 13260778 | |||
| chr1:13260802 | A | G | 1 | a0014 | 1 | HG01106.hp2 | missense_variant&splice_region_variant | MODERATE | c.868A>G | p.Ser290Gly | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 968/1855 | 868/1431 | 290/476 | chr1 | 13260802 | |||
| chr1:13262711 | T | C | 5 | a0002 a0007 a0010 others(2): Show |
42 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(39): Show |
missense_variant | MODERATE | c.1031T>C | p.Leu344Pro | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1131/1855 | 1031/1431 | 344/476 | chr1 | 13262711 | |||
| chr1:13262806 | C | T | 1 | a0012 | 1 | HG00140.hp2 | missense_variant | MODERATE | c.1126C>T | p.Arg376Cys | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1226/1855 | 1126/1431 | 376/476 | chr1 | 13262806 | |||
| chr1:13262852 | C | G | 1 | a0007 | 4 | HG00438.hp1 NA18943.hp2 NA18974.hp1 others(1): Show |
missense_variant | MODERATE | c.1172C>G | p.Ser391Cys | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1272/1855 | 1172/1431 | 391/476 | chr1 | 13262852 | |||
| chr1:13262908 | G | C | 2 | a0008 a0014 |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
missense_variant | MODERATE | c.1228G>C | p.Val410Leu | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1328/1855 | 1228/1431 | 410/476 | chr1 | 13262908 | |||
| chr1:13262927 | C | T | 4 | a0002 a0007 a0013 others(1): Show |
38 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
missense_variant | MODERATE | c.1247C>T | p.Pro416Leu | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1347/1855 | 1247/1431 | 416/476 | chr1 | 13262927 | |||
| chr1:13262963 | G | A | 1 | a0021 | 1 | NA19076.hp1 | stop_gained | HIGH | c.1283G>A | p.Trp428* | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1383/1855 | 1283/1431 | 428/476 | chr1 | 13262963 | |||
| chr1:13262974 | C | G | 17 | a0002 a0003 a0004 others(14): Show |
103 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
missense_variant | MODERATE | c.1294C>G | p.Pro432Ala | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1394/1855 | 1294/1431 | 432/476 | chr1 | 13262974 | |||
| chr1:13263000 | G | C | 1 | a0020 | 1 | NA18988.hp2 | missense_variant | MODERATE | c.1320G>C | p.Lys440Asn | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1420/1855 | 1320/1431 | 440/476 | chr1 | 13263000 | |||
| chr1:13263050 | G | A | 2 | a0008 a0014 |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
missense_variant | MODERATE | c.1370G>A | p.Cys457Tyr | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1470/1855 | 1370/1431 | 457/476 | chr1 | 13263050 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:13259307 | A | G | 1 | a0008c0009 | 4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
synonymous_variant | LOW | c.39A>G | p.Ala13Ala | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 139/1855 | 39/1431 | 13/476 | chr1 | 13259307 | |||
| chr1:13259334 | C | T | 1 | a0003c0013 | 1 | HG02056.hp2 | synonymous_variant | LOW | c.66C>T | p.Ala22Ala | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 166/1855 | 66/1431 | 22/476 | chr1 | 13259334 | |||
| chr1:13259337 | G | A | 2 | a0008c0009 a0014c0014 |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
synonymous_variant | LOW | c.69G>A | p.Leu23Leu | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 169/1855 | 69/1431 | 23/476 | chr1 | 13259337 | |||
| chr1:13259523 | G | T | 14 | a0002c0002 a0003c0003 a0003c0012 others(11): Show |
81 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(78): Show |
synonymous_variant | LOW | c.255G>T | p.Leu85Leu | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 355/1855 | 255/1431 | 85/476 | chr1 | 13259523 | |||
| chr1:13260384 | C | T | 1 | a0003c0012 | 2 | NA18998.hp2 NA19080.hp2 |
synonymous_variant | LOW | c.450C>T | p.Phe150Phe | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/4 | 550/1855 | 450/1431 | 150/476 | chr1 | 13260384 | |||
| chr1:13262622 | A | C | 1 | a0004c0022 | 1 | HG02970.hp2 | synonymous_variant | LOW | c.942A>C | p.Leu314Leu | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1042/1855 | 942/1431 | 314/476 | chr1 | 13262622 | |||
| chr1:13262634 | G | A | 1 | a0009c0017 | 1 | HG04204.hp1 | synonymous_variant | LOW | c.954G>A | p.Pro318Pro | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1054/1855 | 954/1431 | 318/476 | chr1 | 13262634 | |||
| chr1:13263006 | G | T | 4 | a0002c0002 a0007c0008 a0013c0023 others(1): Show |
38 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
synonymous_variant | LOW | c.1326G>T | p.Val442Val | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 1426/1855 | 1326/1431 | 442/476 | chr1 | 13263006 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:13254223 | C | T | 2 | a0008c0009t0006 a0014c0014t0006 |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-75C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/4 | 5046 | chr1 | 13254223 | ||||||
| chr1:13254228 | T | C | 10 | a0002c0002t0002 a0003c0003t0003 a0003c0012t0003 others(7): Show |
60 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(57): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-70T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/4 | chr1 | 13254228 | |||||||
| chr1:13254244 | A | T | 6 | a0002c0002t0002 a0007c0008t0002 a0007c0008t0011 others(3): Show |
40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
5_prime_UTR_variant | MODIFIER | c.-54A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/4 | 5025 | chr1 | 13254244 | ||||||
| chr1:13259262 | C | A | 8 | a0002c0002t0002 a0004c0022t0008 a0007c0008t0002 others(5): Show |
42 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(39): Show |
5_prime_UTR_variant | MODIFIER | c.-7C>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | 7 | chr1 | 13259262 | ||||||
| chr1:13259263 | G | A | 2 | a0008c0009t0006 a0014c0014t0006 |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-6G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/4 | chr1 | 13259263 | |||||||
| chr1:13263194 | T | A | 2 | a0008c0009t0006 a0014c0014t0006 |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*83T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 83 | chr1 | 13263194 | ||||||
| chr1:13263214 | A | G | 2 | a0008c0009t0006 a0014c0014t0006 |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*103A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 103 | chr1 | 13263214 | ||||||
| chr1:13263246 | A | G | 4 | a0005c0004t0004 a0006c0006t0004 a0010c0007t0009 others(1): Show |
18 | HG00597.hp2 HG00621.hp2 HG00738.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*135A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 135 | chr1 | 13263246 | ||||||
| chr1:13263265 | C | T | 2 | a0008c0009t0006 a0014c0014t0006 |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*154C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 154 | chr1 | 13263265 | ||||||
| chr1:13263268 | G | T | 2 | a0009c0010t0010 a0020c0018t0010 |
2 | NA18976.hp1 NA18988.hp2 |
3_prime_UTR_variant | MODIFIER | c.*157G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 157 | chr1 | 13263268 | ||||||
| chr1:13263273 | G | T | 2 | a0008c0009t0006 a0014c0014t0006 |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*162G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 162 | chr1 | 13263273 | ||||||
| chr1:13263274 | G | C | 2 | a0008c0009t0006 a0014c0014t0006 |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*163G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 163 | chr1 | 13263274 | ||||||
| chr1:13263342 | T | C | 2 | a0008c0009t0006 a0014c0014t0006 |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*231T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 231 | chr1 | 13263342 | ||||||
| chr1:13263348 | G | A | 2 | a0004c0005t0005 a0010c0007t0005 |
11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*237G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 237 | chr1 | 13263348 | ||||||
| chr1:13263373 | T | A | 5 | a0005c0004t0004 a0006c0006t0004 a0010c0007t0009 others(2): Show |
21 | HG00140.hp1 HG00597.hp2 HG00621.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*262T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 262 | chr1 | 13263373 | ||||||
| chr1:13263391 | G | C | 7 | a0005c0004t0004 a0006c0006t0004 a0008c0009t0006 others(4): Show |
26 | HG00140.hp1 HG00597.hp1 HG00597.hp2 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*280G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 280 | chr1 | 13263391 | ||||||
| chr1:13263395 | C | G | 5 | a0005c0004t0004 a0006c0006t0004 a0010c0007t0009 others(2): Show |
21 | HG00140.hp1 HG00597.hp2 HG00621.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*284C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 4/4 | 284 | chr1 | 13263395 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:13254281 | C | T | 26 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(23): Show |
54 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(51): Show |
splice_region_variant&intron_variant | LOW | c.-23+6C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254281 | |||||||
| chr1:13254334 | A | G | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+59A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254334 | |||||||
| chr1:13254345 | G | A | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+70G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254345 | |||||||
| chr1:13254354 | G | A | 1 | a0004c0022t0008g0016 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-23+79G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254354 | |||||||
| chr1:13254378 | C | CT | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+113dupT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13254378 | ||||||
| chr1:13254407 | C | CT | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+134dupT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13254407 | ||||||
| chr1:13254414 | G | T | 1 | a0014c0014t0006g0057 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-23+139G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254414 | |||||||
| chr1:13254489 | G | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+214G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254489 | |||||||
| chr1:13254511 | T | C | 5 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(2): Show |
19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-23+236T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254511 | |||||||
| chr1:13254583 | G | A | 4 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(1): Show |
4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.-23+308G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254583 | |||||||
| chr1:13254596 | A | T | 1 | a0011c0011t0007g0041 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.-23+321A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254596 | |||||||
| chr1:13254597 | G | A | 18 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(15): Show |
40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.-23+322G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254597 | |||||||
| chr1:13254614 | G | GT | 6 | a0002c0002t0002g0014 a0004c0022t0008g0016 a0005c0004t0004g0052 others(3): Show |
7 | HG01361.hp1 HG02027.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.-23+352dupT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13254614 | ||||||
| chr1:13254614 | GT | G | 6 | a0004c0005t0005g0006 a0004c0005t0005g0019 a0004c0005t0005g0020 others(3): Show |
11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
intron_variant | MODIFIER | c.-23+352delT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13254614 | ||||||
| chr1:13254688 | A | C | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+413A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254688 | |||||||
| chr1:13254709 | C | T | 6 | a0004c0022t0008g0016 a0008c0009t0006g0053 a0008c0009t0006g0054 others(3): Show |
6 | HG00597.hp1 HG01106.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+434C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254709 | |||||||
| chr1:13254710 | G | A | 1 | a0001c0001t0001g0008 | 2 | HG01069.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.-23+435G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254710 | |||||||
| chr1:13254724 | C | T | 21 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0026 others(18): Show |
48 | HG00140.hp1 HG00140.hp2 HG00621.hp1 others(45): Show |
intron_variant | MODIFIER | c.-23+449C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254724 | |||||||
| chr1:13254840 | C | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+565C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254840 | |||||||
| chr1:13254878 | CCCAAAGT others(2153): Show |
C | 2 | a0002c0002t0002g0050 a0002c0002t0002g0051 |
2 | HG01517.hp2 HG02132.hp2 |
intron_variant | MODIFIER | c.-23+660_-22-2153de others(1): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13254878 | ||||||
| chr1:13254903 | G | A | 1 | a0002c0002t0002g0049 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.-23+628G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254903 | |||||||
| chr1:13254935 | A | T | 32 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(29): Show |
73 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(70): Show |
intron_variant | MODIFIER | c.-23+660A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254935 | |||||||
| chr1:13254939 | T | A | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+664T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254939 | |||||||
| chr1:13254957 | G | T | 7 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(4): Show |
21 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(18): Show |
intron_variant | MODIFIER | c.-23+682G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254957 | |||||||
| chr1:13254958 | A | T | 7 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(4): Show |
21 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(18): Show |
intron_variant | MODIFIER | c.-23+683A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254958 | |||||||
| chr1:13254973 | C | T | 3 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0056 |
3 | HG00597.hp1 HG03669.hp1 NA19089.hp2 |
intron_variant | MODIFIER | c.-23+698C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254973 | |||||||
| chr1:13254975 | C | T | 1 | a0001c0001t0001g0001 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-23+700C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254975 | |||||||
| chr1:13254977 | G | C | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+702G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13254977 | |||||||
| chr1:13255093 | A | T | 16 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(13): Show |
38 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
intron_variant | MODIFIER | c.-23+818A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255093 | |||||||
| chr1:13255113 | T | G | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+838T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255113 | |||||||
| chr1:13255118 | A | C | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+843A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255118 | |||||||
| chr1:13255123 | G | A | 1 | a0005c0004t0004g0015 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-23+848G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255123 | |||||||
| chr1:13255127 | C | G | 1 | a0002c0002t0002g0042 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.-23+852C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255127 | |||||||
| chr1:13255179 | A | G | 2 | a0011c0011t0007g0011 a0011c0011t0007g0041 |
3 | HG00140.hp1 HG03669.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.-23+904A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255179 | |||||||
| chr1:13255200 | G | T | 7 | a0004c0022t0008g0016 a0008c0009t0006g0053 a0008c0009t0006g0054 others(4): Show |
7 | HG00597.hp1 HG01106.hp2 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.-23+925G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255200 | |||||||
| chr1:13255312 | G | A | 2 | a0009c0010t0010g0012 a0020c0018t0010g0012 |
2 | NA18976.hp1 NA18988.hp2 |
intron_variant | MODIFIER | c.-23+1037G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255312 | |||||||
| chr1:13255336 | C | G | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+1061C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255336 | |||||||
| chr1:13255387 | A | G | 1 | a0018c0016t0001g0035 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-23+1112A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255387 | |||||||
| chr1:13255470 | GTGGCCGA others(2137): Show |
G | 1 | a0014c0014t0006g0057 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-23+1201_-22-1628d others(2): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255470 | ||||||
| chr1:13255476 | G | A | 4 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(1): Show |
4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.-23+1201G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255476 | |||||||
| chr1:13255507 | T | TTC | 4 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(1): Show |
4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.-23+1233_-23+1234i others(4): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255507 | ||||||
| chr1:13255550 | ATCTCACA others(2139): Show |
A | 4 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(1): Show |
4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.-23+1292_-22-1535d others(2): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255550 | ||||||
| chr1:13255584 | A | C | 23 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(20): Show |
59 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(56): Show |
intron_variant | MODIFIER | c.-23+1309A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255584 | |||||||
| chr1:13255594 | ATTT | A | 29 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(26): Show |
70 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(67): Show |
intron_variant | MODIFIER | c.-23+1321_-23+1323d others(5): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255594 | ||||||
| chr1:13255603 | G | T | 1 | a0001c0001t0001g0026 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-23+1328G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255603 | |||||||
| chr1:13255776 | C | CT | 11 | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0028 others(8): Show |
19 | HG00597.hp2 HG00621.hp2 HG00738.hp2 others(16): Show |
intron_variant | MODIFIER | c.-23+1531dupT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | ||||||
| chr1:13255776 | C | CTTTTTTT others(2): Show |
7 | a0002c0002t0002g0002 a0002c0002t0002g0014 a0002c0002t0002g0044 others(4): Show |
9 | HG00609.hp1 HG01069.hp2 HG01099.hp2 others(6): Show |
intron_variant | MODIFIER | c.-23+1523_-23+1531d others(11): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | ||||||
| chr1:13255776 | C | CTTTTTTT others(3): Show |
6 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0042 others(3): Show |
10 | HG00733.hp1 HG00733.hp2 HG01175.hp2 others(7): Show |
intron_variant | MODIFIER | c.-23+1522_-23+1531d others(12): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | ||||||
| chr1:13255776 | C | CTTTTTTT others(4): Show |
4 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0007c0008t0002g0002 others(1): Show |
4 | HG00438.hp1 HG02027.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.-23+1521_-23+1531d others(13): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | ||||||
| chr1:13255776 | C | CTTTTTTT others(5): Show |
1 | a0002c0002t0002g0002 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.-23+1520_-23+1531d others(14): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | ||||||
| chr1:13255776 | C | CTTTTTTT others(6): Show |
2 | a0002c0002t0002g0002 a0002c0002t0002g0004 |
2 | HG01934.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.-23+1519_-23+1531d others(15): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | ||||||
| chr1:13255776 | C | CTTTTTTT others(7): Show |
2 | a0002c0002t0002g0002 a0002c0002t0002g0004 |
2 | HG02258.hp2 NA18998.hp1 |
intron_variant | MODIFIER | c.-23+1518_-23+1531d others(16): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | ||||||
| chr1:13255776 | CT | C | 5 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0026 others(2): Show |
8 | HG01069.hp1 HG01099.hp1 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.-23+1531delT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | ||||||
| chr1:13255776 | CTTT | C | 5 | a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 others(2): Show |
19 | HG00438.hp2 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-23+1529_-23+1531d others(5): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | ||||||
| chr1:13255776 | CTTTT | C | 9 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(6): Show |
14 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(11): Show |
intron_variant | MODIFIER | c.-23+1528_-23+1531d others(6): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | ||||||
| chr1:13255776 | CTTTTTTT others(5): Show |
C | 1 | a0002c0002t0002g0002 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-23+1520_-23+1531d others(14): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | ||||||
| chr1:13255776 | CTTTTTTT others(6): Show |
C | 1 | a0005c0004t0004g0015 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-23+1519_-23+1531d others(15): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | ||||||
| chr1:13255776 | CTTTTTTT others(7): Show |
C | 1 | a0003c0012t0003g0018 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.-23+1518_-23+1531d others(16): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | ||||||
| chr1:13255776 | CTTTTTTT others(9): Show |
C | 1 | a0003c0003t0003g0003 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-23+1516_-23+1531d others(18): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13255776 | ||||||
| chr1:13255779 | T | TC | 2 | a0009c0010t0010g0012 a0020c0018t0010g0012 |
2 | NA18976.hp1 NA18988.hp2 |
intron_variant | MODIFIER | c.-23+1504_-23+1505i others(3): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255779 | |||||||
| chr1:13255927 | G | A | 1 | a0006c0006t0004g0009 | 2 | HG02293.hp1 NA19060.hp2 |
intron_variant | MODIFIER | c.-23+1652G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255927 | |||||||
| chr1:13255944 | G | A | 2 | a0011c0011t0007g0011 a0011c0011t0007g0041 |
3 | HG00140.hp1 HG03669.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.-23+1669G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255944 | |||||||
| chr1:13255962 | A | G | 7 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(4): Show |
21 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(18): Show |
intron_variant | MODIFIER | c.-23+1687A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13255962 | |||||||
| chr1:13256029 | A | T | 29 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(26): Show |
70 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(67): Show |
intron_variant | MODIFIER | c.-23+1754A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256029 | |||||||
| chr1:13256112 | A | C | 1 | a0002c0002t0002g0002 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.-23+1837A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256112 | |||||||
| chr1:13256134 | T | G | 16 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(13): Show |
38 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
intron_variant | MODIFIER | c.-23+1859T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256134 | |||||||
| chr1:13256277 | A | C | 9 | a0005c0004t0004g0005 a0005c0004t0004g0015 a0005c0004t0004g0052 others(6): Show |
16 | HG00597.hp2 HG00621.hp2 HG00738.hp2 others(13): Show |
intron_variant | MODIFIER | c.-23+2002A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256277 | |||||||
| chr1:13256280 | A | T | 5 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(2): Show |
19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-23+2005A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256280 | |||||||
| chr1:13256316 | T | C | 6 | a0004c0005t0005g0006 a0004c0005t0005g0019 a0004c0005t0005g0020 others(3): Show |
11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
intron_variant | MODIFIER | c.-23+2041T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256316 | |||||||
| chr1:13256376 | A | G | 29 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(26): Show |
70 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(67): Show |
intron_variant | MODIFIER | c.-23+2101A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256376 | |||||||
| chr1:13256401 | G | C | 1 | a0004c0022t0008g0016 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-23+2126G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256401 | |||||||
| chr1:13256403 | A | T | 16 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(13): Show |
38 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
intron_variant | MODIFIER | c.-23+2128A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256403 | |||||||
| chr1:13256504 | A | G | 16 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(13): Show |
38 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
intron_variant | MODIFIER | c.-23+2229A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256504 | |||||||
| chr1:13256511 | A | G | 1 | a0002c0002t0002g0002 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.-23+2236A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256511 | |||||||
| chr1:13256649 | C | A | 1 | a0010c0007t0009g0004 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.-23+2374C>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256649 | |||||||
| chr1:13256650 | T | A | 1 | a0010c0007t0009g0004 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.-23+2375T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256650 | |||||||
| chr1:13256664 | A | G | 1 | a0002c0002t0002g0002 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.-23+2389A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256664 | |||||||
| chr1:13256672 | C | T | 1 | a0002c0002t0002g0002 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.-23+2397C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256672 | |||||||
| chr1:13256744 | G | A | 16 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(13): Show |
38 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
intron_variant | MODIFIER | c.-23+2469G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256744 | |||||||
| chr1:13256762 | T | TCCTCTAC others(47): Show |
1 | a0002c0002t0002g0013 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-22-2482_-22-2429d others(56): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13256762 | ||||||
| chr1:13256775 | GT | G | 7 | a0001c0001t0001g0001 a0004c0005t0005g0006 a0004c0005t0005g0019 others(4): Show |
12 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22-2460delT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13256775 | ||||||
| chr1:13256864 | C | T | 5 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(2): Show |
18 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(15): Show |
intron_variant | MODIFIER | c.-22-2383C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256864 | |||||||
| chr1:13256942 | G | C | 2 | a0011c0011t0007g0011 a0011c0011t0007g0041 |
3 | HG00140.hp1 HG03669.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.-22-2305G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13256942 | |||||||
| chr1:13257030 | C | T | 7 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(4): Show |
21 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(18): Show |
intron_variant | MODIFIER | c.-22-2217C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257030 | |||||||
| chr1:13257035 | C | T | 1 | a0001c0001t0001g0034 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-22-2212C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257035 | |||||||
| chr1:13257038 | T | C | 8 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(5): Show |
22 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(19): Show |
intron_variant | MODIFIER | c.-22-2209T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257038 | |||||||
| chr1:13257099 | A | T | 25 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(22): Show |
61 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(58): Show |
intron_variant | MODIFIER | c.-22-2148A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257099 | |||||||
| chr1:13257138 | C | T | 5 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(2): Show |
19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-22-2109C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257138 | |||||||
| chr1:13257149 | T | G | 4 | a0004c0022t0008g0016 a0011c0011t0007g0011 a0011c0011t0007g0041 others(1): Show |
5 | HG00140.hp1 HG02970.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-2098T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257149 | |||||||
| chr1:13257222 | C | T | 1 | a0003c0012t0003g0018 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.-22-2025C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257222 | |||||||
| chr1:13257236 | A | G | 6 | a0004c0005t0005g0006 a0004c0005t0005g0019 a0004c0005t0005g0020 others(3): Show |
11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
intron_variant | MODIFIER | c.-22-2011A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257236 | |||||||
| chr1:13257265 | C | G | 4 | a0009c0010t0001g0036 a0009c0010t0001g0038 a0009c0017t0001g0037 others(1): Show |
4 | HG02129.hp2 HG02258.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22-1982C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257265 | |||||||
| chr1:13257288 | T | C | 2 | a0011c0011t0007g0011 a0011c0011t0007g0041 |
3 | HG00140.hp1 HG03669.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.-22-1959T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257288 | |||||||
| chr1:13257314 | C | T | 1 | a0002c0002t0002g0049 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.-22-1933C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257314 | |||||||
| chr1:13257344 | A | G | 31 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(28): Show |
72 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(69): Show |
intron_variant | MODIFIER | c.-22-1903A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257344 | |||||||
| chr1:13257419 | C | T | 5 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(2): Show |
19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-22-1828C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257419 | |||||||
| chr1:13257433 | A | T | 5 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(2): Show |
19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-22-1814A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257433 | |||||||
| chr1:13257572 | C | T | 52 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0025 others(49): Show |
120 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(117): Show |
intron_variant | MODIFIER | c.-22-1675C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257572 | |||||||
| chr1:13257589 | C | T | 31 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(28): Show |
72 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(69): Show |
intron_variant | MODIFIER | c.-22-1658C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257589 | |||||||
| chr1:13257637 | G | A | 1 | a0014c0014t0006g0057 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-22-1610G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257637 | |||||||
| chr1:13257681 | G | A | 1 | a0014c0014t0006g0057 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-22-1566G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257681 | |||||||
| chr1:13257696 | G | A | 8 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(5): Show |
22 | HG00558.hp1 HG00558.hp2 HG01106.hp2 others(19): Show |
intron_variant | MODIFIER | c.-22-1551G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257696 | |||||||
| chr1:13257737 | C | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-1510C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257737 | |||||||
| chr1:13257740 | A | G | 1 | a0001c0001t0001g0034 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-22-1507A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257740 | |||||||
| chr1:13257772 | G | A | 5 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(2): Show |
19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-22-1475G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257772 | |||||||
| chr1:13257809 | A | G | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-1438A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257809 | |||||||
| chr1:13257813 | A | G | 1 | a0009c0010t0001g0038 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.-22-1434A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257813 | |||||||
| chr1:13257902 | GCT | G | 5 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(2): Show |
19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-22-1338_-22-1337d others(4): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13257902 | ||||||
| chr1:13257919 | G | T | 1 | a0009c0010t0001g0038 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.-22-1328G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257919 | |||||||
| chr1:13257922 | C | G | 1 | a0009c0010t0001g0038 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.-22-1325C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257922 | |||||||
| chr1:13257939 | C | T | 5 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(2): Show |
19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-22-1308C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13257939 | |||||||
| chr1:13258077 | A | C | 4 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(1): Show |
4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22-1170A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258077 | |||||||
| chr1:13258089 | G | A | 1 | a0002c0002t0002g0042 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.-22-1158G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258089 | |||||||
| chr1:13258111 | C | T | 1 | a0006c0006t0004g0024 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.-22-1136C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258111 | |||||||
| chr1:13258137 | T | A | 20 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(17): Show |
42 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(39): Show |
intron_variant | MODIFIER | c.-22-1110T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258137 | |||||||
| chr1:13258148 | C | T | 4 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(1): Show |
4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22-1099C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258148 | |||||||
| chr1:13258208 | C | G | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-1039C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258208 | |||||||
| chr1:13258241 | C | T | 3 | a0004c0005t0005g0021 a0004c0005t0005g0022 a0010c0007t0005g0007 |
4 | HG00609.hp2 NA18974.hp2 NA19059.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22-1006C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258241 | |||||||
| chr1:13258317 | A | T | 6 | a0004c0022t0008g0016 a0008c0009t0006g0053 a0008c0009t0006g0054 others(3): Show |
6 | HG00597.hp1 HG01106.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-930A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258317 | |||||||
| chr1:13258322 | T | C | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-925T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258322 | |||||||
| chr1:13258363 | C | G | 28 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(25): Show |
64 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(61): Show |
intron_variant | MODIFIER | c.-22-884C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258363 | |||||||
| chr1:13258448 | T | C | 1 | a0014c0014t0006g0057 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-22-799T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258448 | |||||||
| chr1:13258471 | A | T | 5 | a0003c0003t0003g0003 a0003c0003t0003g0017 a0003c0012t0003g0003 others(2): Show |
19 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.-22-776A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258471 | |||||||
| chr1:13258479 | C | G | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-768C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258479 | |||||||
| chr1:13258504 | TG | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-742delG | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258504 | |||||||
| chr1:13258526 | C | T | 1 | a0002c0002t0002g0048 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.-22-721C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258526 | |||||||
| chr1:13258550 | C | G | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-697C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258550 | |||||||
| chr1:13258579 | G | A | 1 | a0006c0006t0004g0009 | 2 | HG02293.hp1 NA19060.hp2 |
intron_variant | MODIFIER | c.-22-668G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258579 | |||||||
| chr1:13258593 | A | G | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-654A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258593 | |||||||
| chr1:13258604 | A | AAG | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-640_-22-639dup others(2): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13258604 | ||||||
| chr1:13258653 | T | G | 1 | a0002c0002t0002g0050 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.-22-594T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258653 | |||||||
| chr1:13258692 | G | A | 1 | a0004c0005t0005g0021 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.-22-555G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258692 | |||||||
| chr1:13258695 | GGAAA | G | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-541_-22-538del others(4): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13258695 | ||||||
| chr1:13258728 | C | G | 47 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(44): Show |
96 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(93): Show |
intron_variant | MODIFIER | c.-22-519C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258728 | |||||||
| chr1:13258738 | A | G | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-509A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258738 | |||||||
| chr1:13258825 | G | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-422G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258825 | |||||||
| chr1:13258858 | G | A | 6 | a0003c0003t0001g0027 a0003c0003t0003g0003 a0003c0003t0003g0017 others(3): Show |
20 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(17): Show |
intron_variant | MODIFIER | c.-22-389G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258858 | |||||||
| chr1:13258870 | G | C | 1 | a0014c0014t0006g0057 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-22-377G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258870 | |||||||
| chr1:13258873 | C | T | 19 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(16): Show |
41 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(38): Show |
intron_variant | MODIFIER | c.-22-374C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258873 | |||||||
| chr1:13258903 | T | C | 37 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(34): Show |
78 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(75): Show |
intron_variant | MODIFIER | c.-22-344T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258903 | |||||||
| chr1:13258923 | G | A | 6 | a0004c0005t0005g0006 a0004c0005t0005g0019 a0004c0005t0005g0020 others(3): Show |
11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
intron_variant | MODIFIER | c.-22-324G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13258923 | |||||||
| chr1:13258955 | G | GT | 2 | a0011c0011t0007g0011 a0011c0011t0007g0041 |
3 | HG00140.hp1 HG03669.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.-22-291dupT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | 13258955 | ||||||
| chr1:13259030 | C | A | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-217C>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259030 | |||||||
| chr1:13259057 | C | T | 1 | a0001c0001t0001g0033 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.-22-190C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259057 | |||||||
| chr1:13259092 | G | A | 18 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(15): Show |
40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.-22-155G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259092 | |||||||
| chr1:13259118 | G | A | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-129G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259118 | |||||||
| chr1:13259140 | G | A | 18 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(15): Show |
40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.-22-107G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259140 | |||||||
| chr1:13259176 | T | C | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-71T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259176 | |||||||
| chr1:13259178 | G | C | 6 | a0003c0003t0001g0027 a0003c0003t0003g0003 a0003c0003t0003g0017 others(3): Show |
20 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(17): Show |
intron_variant | MODIFIER | c.-22-69G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259178 | |||||||
| chr1:13259188 | A | G | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-59A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259188 | |||||||
| chr1:13259198 | G | A | 1 | a0004c0005t0005g0019 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-22-49G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259198 | |||||||
| chr1:13259205 | G | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22-42G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259205 | |||||||
| chr1:13259227 | C | T | 18 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(15): Show |
40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.-22-20C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | chr1 | 13259227 | |||||||
| chr1:13259580 | G | C | 6 | a0004c0005t0005g0006 a0004c0005t0005g0019 a0004c0005t0005g0020 others(3): Show |
11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
intron_variant | MODIFIER | c.287+25G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259580 | |||||||
| chr1:13259584 | A | G | 1 | a0005c0004t0004g0015 | 2 | HG02132.hp1 HG02523.hp2 |
intron_variant | MODIFIER | c.287+29A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259584 | |||||||
| chr1:13259595 | A | G | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+40A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259595 | |||||||
| chr1:13259602 | C | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+47C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259602 | |||||||
| chr1:13259603 | A | G | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+48A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259603 | |||||||
| chr1:13259610 | G | C | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+55G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259610 | |||||||
| chr1:13259616 | T | G | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+61T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259616 | |||||||
| chr1:13259624 | C | G | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+69C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259624 | |||||||
| chr1:13259649 | G | C | 30 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(27): Show |
71 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(68): Show |
intron_variant | MODIFIER | c.287+94G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259649 | |||||||
| chr1:13259655 | G | C | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+100G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259655 | |||||||
| chr1:13259726 | T | G | 1 | a0013c0023t0002g0043 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.287+171T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259726 | |||||||
| chr1:13259764 | G | A | 1 | a0001c0001t0001g0028 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.287+209G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259764 | |||||||
| chr1:13259821 | A | C | 8 | a0004c0005t0005g0006 a0004c0005t0005g0019 a0004c0005t0005g0020 others(5): Show |
13 | HG00609.hp2 HG02970.hp2 HG03139.hp1 others(10): Show |
intron_variant | MODIFIER | c.287+266A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259821 | |||||||
| chr1:13259838 | C | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+283C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259838 | |||||||
| chr1:13259888 | A | C | 10 | a0004c0005t0005g0006 a0004c0005t0005g0019 a0004c0005t0005g0020 others(7): Show |
15 | HG00597.hp1 HG00609.hp2 HG03516.hp1 others(12): Show |
intron_variant | MODIFIER | c.287+333A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259888 | |||||||
| chr1:13259895 | A | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.288-327A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259895 | |||||||
| chr1:13259907 | G | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.288-315G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259907 | |||||||
| chr1:13259911 | T | A | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.288-311T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259911 | |||||||
| chr1:13259921 | T | C | 5 | a0003c0003t0001g0027 a0009c0010t0001g0036 a0009c0010t0001g0038 others(2): Show |
5 | HG02129.hp2 HG02258.hp1 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.288-301T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13259921 | |||||||
| chr1:13260000 | C | T | 26 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(23): Show |
53 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(50): Show |
intron_variant | MODIFIER | c.288-222C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260000 | |||||||
| chr1:13260018 | C | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.288-204C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260018 | |||||||
| chr1:13260027 | C | T | 15 | a0003c0003t0001g0027 a0003c0003t0003g0003 a0003c0003t0003g0017 others(12): Show |
36 | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(33): Show |
intron_variant | MODIFIER | c.288-195C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260027 | |||||||
| chr1:13260041 | G | T | 54 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(51): Show |
103 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.288-181G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260041 | |||||||
| chr1:13260079 | C | T | 6 | a0004c0005t0005g0006 a0004c0005t0005g0019 a0004c0005t0005g0020 others(3): Show |
11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
intron_variant | MODIFIER | c.288-143C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260079 | |||||||
| chr1:13260082 | G | A | 1 | a0001c0001t0001g0025 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.288-140G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260082 | |||||||
| chr1:13260125 | C | G | 6 | a0001c0001t0001g0034 a0006c0006t0004g0009 a0008c0009t0006g0053 others(3): Show |
7 | HG00597.hp1 HG02293.hp1 HG02970.hp1 others(4): Show |
intron_variant | MODIFIER | c.288-97C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260125 | |||||||
| chr1:13260128 | G | C | 4 | a0004c0005t0005g0019 a0005c0004t0004g0005 a0005c0004t0004g0015 others(1): Show |
10 | HG00597.hp2 HG00738.hp2 HG01106.hp1 others(7): Show |
intron_variant | MODIFIER | c.288-94G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260128 | |||||||
| chr1:13260152 | C | A | 38 | a0001c0001t0001g0034 a0002c0002t0002g0002 a0002c0002t0002g0004 others(35): Show |
75 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(72): Show |
intron_variant | MODIFIER | c.288-70C>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260152 | |||||||
| chr1:13260154 | C | G | 8 | a0003c0003t0001g0027 a0003c0003t0003g0003 a0003c0003t0003g0017 others(5): Show |
23 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(20): Show |
intron_variant | MODIFIER | c.288-68C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260154 | |||||||
| chr1:13260199 | T | G | 17 | a0003c0003t0001g0027 a0003c0003t0003g0003 a0003c0003t0003g0017 others(14): Show |
31 | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(28): Show |
intron_variant | MODIFIER | c.288-23T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260199 | |||||||
| chr1:13260220 | A | T | 1 | a0017c0015t0008g0040 | 1 | HG03139.hp1 | splice_acceptor_variant&intron_variant | HIGH | c.288-2A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 2/3 | chr1 | 13260220 | |||||||
| chr1:13260810 | G | C | 6 | a0009c0010t0001g0036 a0009c0010t0001g0038 a0009c0010t0010g0012 others(3): Show |
6 | HG02129.hp2 HG02258.hp1 HG03540.hp1 others(3): Show |
splice_region_variant&intron_variant | LOW | c.869+7G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260810 | |||||||
| chr1:13260823 | T | G | 4 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(1): Show |
4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.869+20T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260823 | |||||||
| chr1:13260831 | C | T | 4 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(1): Show |
4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.869+28C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260831 | |||||||
| chr1:13260838 | C | T | 1 | a0004c0022t0008g0016 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.869+35C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260838 | |||||||
| chr1:13260845 | G | A | 4 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(1): Show |
4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.869+42G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260845 | |||||||
| chr1:13260857 | A | C | 10 | a0003c0003t0001g0027 a0003c0003t0003g0003 a0003c0003t0003g0017 others(7): Show |
24 | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.869+54A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260857 | |||||||
| chr1:13260861 | G | A | 11 | a0003c0003t0001g0027 a0003c0003t0003g0003 a0003c0003t0003g0017 others(8): Show |
25 | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(22): Show |
intron_variant | MODIFIER | c.869+58G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260861 | |||||||
| chr1:13260929 | G | A | 1 | a0001c0001t0001g0008 | 2 | HG01069.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.869+126G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260929 | |||||||
| chr1:13260941 | T | G | 1 | a0017c0015t0008g0040 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.869+138T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260941 | |||||||
| chr1:13260944 | C | T | 1 | a0004c0005t0005g0022 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.869+141C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13260944 | |||||||
| chr1:13261027 | C | T | 18 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(15): Show |
40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.869+224C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261027 | |||||||
| chr1:13261049 | G | C | 2 | a0011c0011t0007g0011 a0011c0011t0007g0041 |
3 | HG00140.hp1 HG03669.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.869+246G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261049 | |||||||
| chr1:13261089 | C | T | 2 | a0004c0022t0008g0016 a0017c0015t0008g0040 |
2 | HG02970.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.869+286C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261089 | |||||||
| chr1:13261097 | T | C | 7 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(4): Show |
8 | HG00140.hp1 HG00597.hp1 HG01106.hp2 others(5): Show |
intron_variant | MODIFIER | c.869+294T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261097 | |||||||
| chr1:13261115 | T | C | 4 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(1): Show |
4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.869+312T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261115 | |||||||
| chr1:13261129 | C | T | 1 | a0001c0001t0001g0032 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.869+326C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261129 | |||||||
| chr1:13261151 | G | A | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.869+348G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261151 | |||||||
| chr1:13261167 | G | C | 6 | a0009c0010t0001g0036 a0009c0010t0001g0038 a0009c0010t0010g0012 others(3): Show |
6 | HG02129.hp2 HG02258.hp1 HG03540.hp1 others(3): Show |
intron_variant | MODIFIER | c.869+364G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261167 | |||||||
| chr1:13261179 | C | T | 1 | a0017c0015t0008g0040 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.869+376C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261179 | |||||||
| chr1:13261195 | G | A | 1 | a0002c0002t0002g0044 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.869+392G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261195 | |||||||
| chr1:13261227 | A | C | 1 | a0002c0002t0002g0046 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.869+424A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261227 | |||||||
| chr1:13261251 | T | G | 1 | a0018c0016t0001g0035 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.869+448T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261251 | |||||||
| chr1:13261272 | A | C | 18 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(15): Show |
40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.869+469A>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261272 | |||||||
| chr1:13261283 | C | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.869+480C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261283 | |||||||
| chr1:13261300 | T | G | 6 | a0003c0003t0003g0003 a0003c0012t0003g0003 a0003c0012t0003g0018 others(3): Show |
20 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(17): Show |
intron_variant | MODIFIER | c.869+497T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261300 | |||||||
| chr1:13261303 | A | G | 2 | a0001c0001t0001g0031 a0004c0005t0005g0019 |
2 | HG03516.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.869+500A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261303 | |||||||
| chr1:13261322 | C | G | 18 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(15): Show |
40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.869+519C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261322 | |||||||
| chr1:13261322 | C | T | 2 | a0004c0022t0008g0016 a0017c0015t0008g0040 |
2 | HG02970.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.869+519C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261322 | |||||||
| chr1:13261334 | G | A | 4 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(1): Show |
4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.869+531G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261334 | |||||||
| chr1:13261334 | G | C | 18 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(15): Show |
40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.869+531G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261334 | |||||||
| chr1:13261341 | C | G | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.869+538C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261341 | |||||||
| chr1:13261346 | C | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.869+543C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261346 | |||||||
| chr1:13261347 | G | A | 6 | a0003c0003t0001g0027 a0003c0003t0003g0003 a0003c0003t0003g0017 others(3): Show |
20 | HG00558.hp1 HG00558.hp2 HG01934.hp1 others(17): Show |
intron_variant | MODIFIER | c.869+544G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261347 | |||||||
| chr1:13261351 | C | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.869+548C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261351 | |||||||
| chr1:13261352 | A | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.869+549A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261352 | |||||||
| chr1:13261353 | A | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.869+550A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261353 | |||||||
| chr1:13261362 | T | A | 1 | a0008c0009t0006g0053 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.869+559T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261362 | |||||||
| chr1:13261378 | T | A | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.869+575T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261378 | |||||||
| chr1:13261396 | C | T | 1 | a0016c0025t0001g0030 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.869+593C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261396 | |||||||
| chr1:13261485 | C | A | 1 | a0004c0022t0008g0016 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.869+682C>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261485 | |||||||
| chr1:13261524 | T | C | 1 | a0017c0015t0008g0040 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.869+721T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261524 | |||||||
| chr1:13261567 | C | T | 1 | a0001c0001t0001g0029 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.869+764C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261567 | |||||||
| chr1:13261600 | T | G | 8 | a0004c0005t0005g0006 a0004c0005t0005g0019 a0004c0005t0005g0020 others(5): Show |
13 | HG00609.hp2 HG02258.hp1 HG02970.hp2 others(10): Show |
intron_variant | MODIFIER | c.869+797T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261600 | |||||||
| chr1:13261605 | T | C | 3 | a0011c0011t0007g0011 a0011c0011t0007g0041 a0014c0014t0006g0057 |
4 | HG00140.hp1 HG01106.hp2 HG03669.hp2 others(1): Show |
intron_variant | MODIFIER | c.869+802T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261605 | |||||||
| chr1:13261620 | G | A | 1 | a0003c0003t0001g0027 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.869+817G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261620 | |||||||
| chr1:13261621 | G | T | 1 | a0004c0005t0005g0019 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.869+818G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261621 | |||||||
| chr1:13261648 | C | T | 6 | a0004c0005t0005g0006 a0004c0005t0005g0019 a0004c0005t0005g0020 others(3): Show |
11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
intron_variant | MODIFIER | c.869+845C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261648 | |||||||
| chr1:13261670 | CT | C | 6 | a0004c0005t0005g0006 a0004c0005t0005g0019 a0004c0005t0005g0020 others(3): Show |
11 | HG00609.hp2 HG03516.hp1 NA18953.hp1 others(8): Show |
intron_variant | MODIFIER | c.869+870delT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | 13261670 | ||||||
| chr1:13261688 | C | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-862C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261688 | |||||||
| chr1:13261719 | G | C | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-831G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261719 | |||||||
| chr1:13261801 | G | C | 3 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0056 |
3 | HG00597.hp1 HG03669.hp1 NA19089.hp2 |
intron_variant | MODIFIER | c.870-749G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261801 | |||||||
| chr1:13261823 | A | G | 18 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(15): Show |
40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.870-727A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261823 | |||||||
| chr1:13261849 | T | A | 2 | a0011c0011t0007g0011 a0011c0011t0007g0041 |
3 | HG00140.hp1 HG03669.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.870-701T>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261849 | |||||||
| chr1:13261870 | C | T | 18 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(15): Show |
40 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.870-680C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261870 | |||||||
| chr1:13261878 | G | C | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-672G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261878 | |||||||
| chr1:13261901 | T | C | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-649T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261901 | |||||||
| chr1:13261916 | T | C | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-634T>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261916 | |||||||
| chr1:13261953 | A | T | 1 | a0017c0015t0008g0040 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.870-597A>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13261953 | |||||||
| chr1:13262035 | G | A | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-515G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262035 | |||||||
| chr1:13262058 | AT | A | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-485delT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | 13262058 | ||||||
| chr1:13262069 | C | CT | 14 | a0003c0003t0001g0027 a0003c0003t0003g0003 a0003c0003t0003g0017 others(11): Show |
35 | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(32): Show |
intron_variant | MODIFIER | c.870-471dupT | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | 13262069 | ||||||
| chr1:13262069 | C | CTT | 6 | a0005c0004t0004g0052 a0008c0009t0006g0053 a0008c0009t0006g0054 others(3): Show |
6 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(3): Show |
intron_variant | MODIFIER | c.870-472_870-471dup others(2): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | 13262069 | ||||||
| chr1:13262164 | C | T | 1 | a0014c0014t0006g0057 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.870-386C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262164 | |||||||
| chr1:13262220 | C | G | 1 | a0002c0002t0002g0013 | 2 | HG00438.hp2 NA19003.hp2 |
intron_variant | MODIFIER | c.870-330C>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262220 | |||||||
| chr1:13262250 | G | C | 13 | a0003c0003t0001g0027 a0003c0003t0003g0003 a0003c0003t0003g0017 others(10): Show |
32 | HG00558.hp1 HG00558.hp2 HG00609.hp2 others(29): Show |
intron_variant | MODIFIER | c.870-300G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262250 | |||||||
| chr1:13262327 | G | T | 12 | a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 others(9): Show |
29 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.870-223G>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262327 | |||||||
| chr1:13262356 | C | T | 6 | a0009c0010t0001g0036 a0009c0010t0001g0038 a0009c0010t0010g0012 others(3): Show |
6 | HG02129.hp2 HG02258.hp1 HG03540.hp1 others(3): Show |
intron_variant | MODIFIER | c.870-194C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262356 | |||||||
| chr1:13262359 | G | C | 4 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(1): Show |
4 | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
intron_variant | MODIFIER | c.870-191G>C | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262359 | |||||||
| chr1:13262360 | C | T | 5 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(2): Show |
5 | HG00597.hp1 HG01106.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-190C>T | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262360 | |||||||
| chr1:13262380 | G | A | 1 | a0002c0002t0002g0045 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.870-170G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262380 | |||||||
| chr1:13262389 | G | A | 9 | a0005c0004t0004g0005 a0005c0004t0004g0015 a0005c0004t0004g0052 others(6): Show |
16 | HG00597.hp2 HG00621.hp2 HG00738.hp2 others(13): Show |
intron_variant | MODIFIER | c.870-161G>A | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262389 | |||||||
| chr1:13262410 | T | G | 3 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0056 |
3 | HG00597.hp1 HG03669.hp1 NA19089.hp2 |
intron_variant | MODIFIER | c.870-140T>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262410 | |||||||
| chr1:13262413 | A | G | 54 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0013 others(51): Show |
103 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.870-137A>G | PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 3/3 | chr1 | 13262413 |