Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 400736 |
| ensemblid | ENSG00000279169.3 |
| hgncid | 13262 |
| symbol | PRAMEF13 |
| name | PRAME family member 13 |
| refseq_nuc | NM_001291380.1 |
| refseq_prot | NP_001278309.1 |
| ensembl_nuc | ENST00000625019.3 |
| ensembl_prot | ENSP00000491259.1 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 13196188 |
| end | 13201409 |
| strand | - |
| ver | v1.2 |
| region | chr1:13196188-13201409 |
| region5000 | chr1:13191188-13206409 |
| regionname0 | PRAMEF13_chr1_13196188_13201409 |
| regionname5000 | PRAMEF13_chr1_13191188_13206409 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 474 | 21 | 13 | 1 | 3 | 0 | 4 | 3 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | MSIQA others(469): Show |
chr1 | 13191188 | 13206409 |
| a0002 | 1/0 | 474 | 12 | 2 | 2 | 3 | 2 | 2 | 3 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | MSIQA others(469): Show |
chr1 | 13191188 | 13206409 |
| a0003 | 0/0 | 104 | 4 | 2 | 0 | 0 | 0 | 2 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | MSIQA others(99): Show |
chr1 | 13191188 | 13206409 |
| a0004 | 0/0 | 474 | 3 | 0 | 1 | 0 | 0 | 2 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | MSIQA others(469): Show |
chr1 | 13191188 | 13206409 |
| a0005 | 0/0 | 104 | 3 | 1 | 0 | 1 | 0 | 1 | 1 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | MSIQA others(99): Show |
chr1 | 13191188 | 13206409 |
| a0006 | 0/0 | 474 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | MSIQA others(469): Show |
chr1 | 13191188 | 13206409 |
| a0007 | 0/0 | 474 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | MSIQA others(469): Show |
chr1 | 13191188 | 13206409 |
| a0008 | 0/0 | 77 | 2 | 1 | 0 | 0 | 0 | 1 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | MEELP others(72): Show |
chr1 | 13191188 | 13206409 |
| a0009 | 0/0 | 447 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | MEELP others(442): Show |
chr1 | 13191188 | 13206409 |
| a0010 | 0/0 | 474 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | MSIQA others(469): Show |
chr1 | 13191188 | 13206409 |
| a0011 | 0/0 | 104 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | MSIQA others(99): Show |
chr1 | 13191188 | 13206409 |
| a0012 | 0/0 | 474 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | MSIQA others(469): Show |
chr1 | 13191188 | 13206409 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1422 | 19 | 11 | 1 | 3 | 0 | 4 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ATGAG others(1417): Show |
chr1 | 13191188 | 13206409 | ||
| a0001c0008 | 0/0 | 1422 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ATGAG others(1417): Show |
chr1 | 13191188 | 13206409 | ||
| a0002c0002 | 1/0 | 1422 | 12 | 2 | 2 | 3 | 2 | 2 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ATGAG others(1417): Show |
chr1 | 13191188 | 13206409 | ||
| a0003c0005 | 0/0 | 1422 | 2 | 0 | 0 | 0 | 0 | 2 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ATGAG others(1417): Show |
chr1 | 13191188 | 13206409 | ||
| a0003c0006 | 0/0 | 1422 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ATGAG others(1417): Show |
chr1 | 13191188 | 13206409 | ||
| a0004c0003 | 0/0 | 1422 | 3 | 0 | 1 | 0 | 0 | 2 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ATGAG others(1417): Show |
chr1 | 13191188 | 13206409 | ||
| a0005c0012 | 0/0 | 1422 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ATGAG others(1417): Show |
chr1 | 13191188 | 13206409 | ||
| a0005c0015 | 0/0 | 1422 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ATGAG others(1417): Show |
chr1 | 13191188 | 13206409 | ||
| a0005c0016 | 0/0 | 1422 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ATGAG others(1417): Show |
chr1 | 13191188 | 13206409 | ||
| a0006c0004 | 0/0 | 1422 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ATGAG others(1417): Show |
chr1 | 13191188 | 13206409 | ||
| a0007c0007 | 0/0 | 1422 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ATGAG others(1417): Show |
chr1 | 13191188 | 13206409 | ||
| a0008c0010 | 0/0 | 1422 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | AGGAG others(1417): Show |
chr1 | 13191188 | 13206409 | ||
| a0008c0011 | 0/0 | 1422 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | AGGAG others(1417): Show |
chr1 | 13191188 | 13206409 | ||
| a0009c0009 | 0/0 | 1422 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | AGGAG others(1417): Show |
chr1 | 13191188 | 13206409 | ||
| a0010c0013 | 0/0 | 1422 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ATGAG others(1417): Show |
chr1 | 13191188 | 13206409 | ||
| a0011c0017 | 0/0 | 1422 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ATGAG others(1417): Show |
chr1 | 13191188 | 13206409 | ||
| a0012c0014 | 0/0 | 1422 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ATGAG others(1417): Show |
chr1 | 13191188 | 13206409 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 2163 | 14 | 6 | 1 | 3 | 0 | 4 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0001c0001t0004 | 0/0 | 2163 | 3 | 3 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0001c0001t0007 | 0/0 | 2163 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0001c0008t0001 | 0/0 | 2163 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0002c0002t0002 | 1/0 | 2163 | 10 | 0 | 2 | 3 | 2 | 2 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0002c0002t0005 | 0/0 | 2163 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0003c0005t0003 | 0/0 | 2163 | 2 | 0 | 0 | 0 | 0 | 2 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0003c0006t0003 | 0/0 | 2163 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0004c0003t0001 | 0/0 | 2163 | 3 | 0 | 1 | 0 | 0 | 2 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0005c0012t0003 | 0/0 | 2163 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0005c0015t0003 | 0/0 | 2163 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0005c0016t0009 | 0/0 | 2163 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0006c0004t0001 | 0/0 | 2163 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0007c0007t0006 | 0/0 | 2163 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0008c0010t0008 | 0/0 | 2163 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0008c0011t0008 | 0/0 | 2163 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0009c0009t0010 | 0/0 | 2163 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0010c0013t0001 | 0/0 | 2163 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0011c0017t0003 | 0/0 | 2163 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| a0012c0014t0002 | 0/0 | 2163 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | ACCCA others(2158): Show |
chr1 | 13191188 | 13206409 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 10 | 4 | 1 | 1 | 0 | 4 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0001c0001t0001g0005 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0001c0001t0004g0009 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0001c0001t0004g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0001c0001t0007g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0001c0001t0007g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0001c0008t0001g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0002c0002t0002g0002 | 1/0 | 10 | 0 | 2 | 3 | 2 | 2 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0002c0002t0005g0003 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0003c0005t0003g0004 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0003c0006t0003g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0003c0006t0003g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0004c0003t0001g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0004c0003t0001g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0004c0003t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0005c0012t0003g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0005c0015t0003g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0005c0016t0009g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0006c0004t0001g0007 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0007c0007t0006g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0008c0010t0008g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0008c0011t0008g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0009c0009t0010g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0010c0013t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0011c0017t0003g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| a0012c0014t0002g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG01167 | hp2 | a0002 | c0002 | t0002 | g0002 | AMR | PUR | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG01261 | hp1 | a0002 | c0002 | t0002 | g0002 | AMR | CLM | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG01261 | hp2 | a0004 | c0003 | t0001 | g0021 | AMR | CLM | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG02257 | hp1 | a0002 | c0002 | t0005 | g0003 | AFR | ACB | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG02280 | hp1 | a0001 | c0008 | t0001 | g0008 | AFR | ACB | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG02280 | hp2 | a0003 | c0006 | t0003 | g0012 | AFR | ACB | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG02602 | hp1 | a0004 | c0003 | t0001 | g0020 | SAS | PJL | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG02602 | hp2 | a0003 | c0005 | t0003 | g0004 | SAS | PJL | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG02622 | hp1 | a0001 | c0001 | t0007 | g0016 | AFR | GWD | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG02630 | hp1 | a0003 | c0006 | t0003 | g0013 | AFR | GWD | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG02630 | hp2 | a0006 | c0004 | t0001 | g0007 | AFR | GWD | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG02965 | hp1 | a0005 | c0012 | t0003 | g0011 | AFR | ESN | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG02965 | hp2 | a0009 | c0009 | t0010 | g0028 | AFR | ESN | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG02970 | hp1 | a0006 | c0004 | t0001 | g0007 | AFR | ESN | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG02970 | hp2 | a0007 | c0007 | t0006 | g0006 | AFR | ESN | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG02976 | hp2 | a0010 | c0013 | t0001 | g0018 | AFR | ESN | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG03017 | hp1 | a0003 | c0005 | t0003 | g0004 | SAS | PJL | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG03017 | hp2 | a0002 | c0002 | t0002 | g0002 | SAS | PJL | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG03041 | hp1 | a0001 | c0001 | t0004 | g0009 | AFR | GWD | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG03041 | hp2 | a0001 | c0008 | t0001 | g0008 | AFR | GWD | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | MSL | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG03098 | hp2 | a0001 | c0001 | t0007 | g0015 | AFR | MSL | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG03239 | hp2 | a0004 | c0003 | t0001 | g0010 | SAS | PJL | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG03831 | hp1 | a0005 | c0016 | t0009 | g0025 | SAS | BEB | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG03831 | hp2 | a0008 | c0011 | t0008 | g0027 | SAS | BEB | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG03942 | hp2 | a0002 | c0002 | t0002 | g0002 | SAS | BEB | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| NA18967 | hp1 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| NA18967 | hp2 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| NA18999 | hp1 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| NA18999 | hp2 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| NA19000 | hp1 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| NA19000 | hp2 | a0005 | c0015 | t0003 | g0024 | EAS | JPT | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| NA19030 | hp1 | a0007 | c0007 | t0006 | g0006 | AFR | LWK | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| NA19030 | hp2 | a0001 | c0001 | t0004 | g0017 | AFR | LWK | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | LWK | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| NA19043 | hp2 | a0008 | c0010 | t0008 | g0026 | AFR | LWK | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| NA19055 | hp1 | a0012 | c0014 | t0002 | g0023 | EAS | JPT | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| NA19055 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| NA19240 | hp2 | a0002 | c0002 | t0005 | g0003 | AFR | YRI | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| NA20752 | hp1 | a0002 | c0002 | t0002 | g0002 | EUR | TSI | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| NA20752 | hp2 | a0002 | c0002 | t0002 | g0002 | EUR | TSI | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG03471 | hp1 | a0001 | c0001 | t0004 | g0009 | AFR | MSL | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| HG03471 | hp2 | a0011 | c0017 | t0003 | g0014 | AFR | MSL | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| homoSapiens | grch38p0 | a0002 | c0002 | t0002 | g0002 | REF | REF | PRAMEF13_chr1_13191188_13206409 | PRAMEF13 | chr1 | 13191188 | 13206409 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:13196863 | G | C | 1 | a0008 | 2 | HG03831.hp2 NA19043.hp2 |
stop_gained | HIGH | c.1385C>G | p.Ser462* | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 1488/2163 | 1385/1425 | 462/474 | chr1 | 13196863 | |||
| chr1:13196942 | C | T | 1 | a0010 | 1 | HG02976.hp2 | missense_variant | MODERATE | c.1306G>A | p.Glu436Lys | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 1409/2163 | 1306/1425 | 436/474 | chr1 | 13196942 | |||
| chr1:13196958 | G | C | 3 | a0003 a0005 a0011 |
8 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(5): Show |
missense_variant | MODERATE | c.1290C>G | p.Phe430Leu | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 1393/2163 | 1290/1425 | 430/474 | chr1 | 13196958 | |||
| chr1:13196971 | T | C | 1 | a0004 | 3 | HG01261.hp2 HG02602.hp1 HG03239.hp2 |
missense_variant | MODERATE | c.1277A>G | p.Asn426Ser | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 1380/2163 | 1277/1425 | 426/474 | chr1 | 13196971 | |||
| chr1:13197076 | A | C | 3 | a0003 a0005 a0012 |
6 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(3): Show |
missense_variant | MODERATE | c.1172T>G | p.Met391Arg | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 1275/2163 | 1172/1425 | 391/474 | chr1 | 13197076 | |||
| chr1:13197124 | C | T | 2 | a0003 a0007 |
4 | HG02602.hp2 HG02970.hp2 HG03017.hp1 others(1): Show |
missense_variant | MODERATE | c.1124G>A | p.Arg375His | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 1227/2163 | 1124/1425 | 375/474 | chr1 | 13197124 | |||
| chr1:13197215 | C | G | 1 | a0006 | 2 | HG02630.hp2 HG02970.hp1 |
missense_variant | MODERATE | c.1033G>C | p.Glu345Gln | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 1136/2163 | 1033/1425 | 345/474 | chr1 | 13197215 | |||
| chr1:13197247 | C | T | 1 | a0011 | 1 | HG03471.hp2 | missense_variant | MODERATE | c.1001G>A | p.Arg334His | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 1104/2163 | 1001/1425 | 334/474 | chr1 | 13197247 | |||
| chr1:13197320 | C | T | 1 | a0008 | 2 | HG03831.hp2 NA19043.hp2 |
missense_variant | MODERATE | c.928G>A | p.Val310Met | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 1031/2163 | 928/1425 | 310/474 | chr1 | 13197320 | |||
| chr1:13198424 | G | A | 1 | a0008 | 2 | HG03831.hp2 NA19043.hp2 |
missense_variant | MODERATE | c.770C>T | p.Thr257Ile | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/4 | 873/2163 | 770/1425 | 257/474 | chr1 | 13198424 | |||
| chr1:13198427 | A | C | 1 | a0005 | 2 | HG03831.hp1 NA19000.hp2 |
missense_variant | MODERATE | c.767T>G | p.Val256Gly | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/4 | 870/2163 | 767/1425 | 256/474 | chr1 | 13198427 | |||
| chr1:13198460 | G | T | 2 | a0003 a0005 |
5 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(2): Show |
missense_variant | MODERATE | c.734C>A | p.Ser245Tyr | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/4 | 837/2163 | 734/1425 | 245/474 | chr1 | 13198460 | |||
| chr1:13198491 | C | G | 5 | a0001 a0004 a0006 others(2): Show |
29 | HG01167.hp1 HG01261.hp2 HG02257.hp2 others(26): Show |
missense_variant | MODERATE | c.703G>C | p.Gly235Arg | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/4 | 806/2163 | 703/1425 | 235/474 | chr1 | 13198491 | |||
| chr1:13198496 | G | T | 5 | a0001 a0004 a0006 others(2): Show |
29 | HG01167.hp1 HG01261.hp2 HG02257.hp2 others(26): Show |
missense_variant | MODERATE | c.698C>A | p.Thr233Asn | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/4 | 801/2163 | 698/1425 | 233/474 | chr1 | 13198496 | |||
| chr1:13198698 | A | G | 2 | a0003 a0005 |
5 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(2): Show |
missense_variant | MODERATE | c.496T>C | p.Tyr166His | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/4 | 599/2163 | 496/1425 | 166/474 | chr1 | 13198698 | |||
| chr1:13198865 | T | C | 4 | a0003 a0005 a0008 others(1): Show |
10 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(7): Show |
missense_variant | MODERATE | c.329A>G | p.Glu110Gly | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/4 | 432/2163 | 329/1425 | 110/474 | chr1 | 13198865 | |||
| chr1:13198872 | C | A | 1 | a0005 | 1 | HG03831.hp1 | missense_variant | MODERATE | c.322G>T | p.Val108Phe | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/4 | 425/2163 | 322/1425 | 108/474 | chr1 | 13198872 | |||
| chr1:13198880 | A | T | 4 | a0003 a0005 a0008 others(1): Show |
10 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(7): Show |
stop_gained | HIGH | c.314T>A | p.Leu105* | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/4 | 417/2163 | 314/1425 | 105/474 | chr1 | 13198880 | |||
| chr1:13198902 | G | A | 4 | a0003 a0005 a0008 others(1): Show |
10 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(7): Show |
missense_variant | MODERATE | c.292C>T | p.Arg98Trp | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/4 | 395/2163 | 292/1425 | 98/474 | chr1 | 13198902 | |||
| chr1:13199436 | G | C | 1 | a0011 | 1 | HG03471.hp2 | missense_variant | MODERATE | c.154C>G | p.Leu52Val | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 2/4 | 257/2163 | 154/1425 | 52/474 | chr1 | 13199436 | |||
| chr1:13199525 | G | T | 1 | a0003 | 4 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(1): Show |
missense_variant | MODERATE | c.65C>A | p.Ala22Asp | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 2/4 | 168/2163 | 65/1425 | 22/474 | chr1 | 13199525 | |||
| chr1:13199555 | A | G | 1 | a0006 | 2 | HG02630.hp2 HG02970.hp1 |
missense_variant | MODERATE | c.35T>C | p.Leu12Pro | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 2/4 | 138/2163 | 35/1425 | 12/474 | chr1 | 13199555 | |||
| chr1:13199588 | A | C | 2 | a0008 a0009 |
3 | HG02965.hp2 HG03831.hp2 NA19043.hp2 |
start_lost | HIGH | c.2T>G | p.Met1? | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 2/4 | 105/2163 | 2/1425 | 1/474 | chr1 | 13199588 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:13196889 | A | G | 8 | a0003c0005 a0003c0006 a0005c0012 others(5): Show |
10 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(7): Show |
synonymous_variant | LOW | c.1359T>C | p.Gly453Gly | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 1462/2163 | 1359/1425 | 453/474 | chr1 | 13196889 | |||
| chr1:13196925 | C | T | 1 | a0008c0010 | 1 | NA19043.hp2 | synonymous_variant | LOW | c.1323G>A | p.Leu441Leu | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 1426/2163 | 1323/1425 | 441/474 | chr1 | 13196925 | |||
| chr1:13197228 | G | T | 3 | a0001c0001 a0004c0003 a0010c0013 |
23 | HG01167.hp1 HG01261.hp2 HG02257.hp2 others(20): Show |
synonymous_variant | LOW | c.1020C>A | p.Leu340Leu | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 1123/2163 | 1020/1425 | 340/474 | chr1 | 13197228 | |||
| chr1:13197321 | A | G | 2 | a0008c0010 a0008c0011 |
2 | HG03831.hp2 NA19043.hp2 |
synonymous_variant | LOW | c.927T>C | p.Asp309Asp | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 1030/2163 | 927/1425 | 309/474 | chr1 | 13197321 | |||
| chr1:13197324 | C | T | 2 | a0008c0010 a0008c0011 |
2 | HG03831.hp2 NA19043.hp2 |
synonymous_variant | LOW | c.924G>A | p.Glu308Glu | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 1027/2163 | 924/1425 | 308/474 | chr1 | 13197324 | |||
| chr1:13198873 | A | G | 8 | a0003c0005 a0003c0006 a0005c0012 others(5): Show |
10 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(7): Show |
synonymous_variant | LOW | c.321T>C | p.Asp107Asp | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/4 | 424/2163 | 321/1425 | 107/474 | chr1 | 13198873 | |||
| chr1:13199551 | C | T | 1 | a0005c0012 | 1 | HG02965.hp1 | synonymous_variant | LOW | c.39G>A | p.Ala13Ala | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 2/4 | 142/2163 | 39/1425 | 13/474 | chr1 | 13199551 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:13196321 | G | C | 17 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(14): Show |
41 | HG01167.hp1 HG01261.hp2 HG02257.hp1 others(38): Show |
3_prime_UTR_variant | MODIFIER | c.*502C>G | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 502 | chr1 | 13196321 | ||||||
| chr1:13196424 | T | C | 17 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(14): Show |
41 | HG01167.hp1 HG01261.hp2 HG02257.hp1 others(38): Show |
3_prime_UTR_variant | MODIFIER | c.*399A>G | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 399 | chr1 | 13196424 | ||||||
| chr1:13196483 | C | T | 1 | a0007c0007t0006 | 2 | HG02970.hp2 NA19030.hp1 |
3_prime_UTR_variant | MODIFIER | c.*340G>A | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 340 | chr1 | 13196483 | ||||||
| chr1:13196498 | C | A | 1 | a0001c0001t0004 | 3 | HG03041.hp1 HG03471.hp1 NA19030.hp2 |
3_prime_UTR_variant | MODIFIER | c.*325G>T | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 325 | chr1 | 13196498 | ||||||
| chr1:13196602 | G | A | 1 | a0002c0002t0005 | 2 | HG02257.hp1 NA19240.hp2 |
3_prime_UTR_variant | MODIFIER | c.*221C>T | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 221 | chr1 | 13196602 | ||||||
| chr1:13196617 | C | T | 8 | a0003c0005t0003 a0003c0006t0003 a0005c0012t0003 others(5): Show |
10 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*206G>A | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 206 | chr1 | 13196617 | ||||||
| chr1:13196630 | G | T | 1 | a0005c0016t0009 | 1 | HG03831.hp1 | 3_prime_UTR_variant | MODIFIER | c.*193C>A | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 193 | chr1 | 13196630 | ||||||
| chr1:13196815 | T | C | 1 | a0001c0001t0007 | 2 | HG02622.hp1 HG03098.hp2 |
3_prime_UTR_variant | MODIFIER | c.*8A>G | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 8 | chr1 | 13196815 | ||||||
| chr1:13201336 | G | A | 3 | a0008c0010t0008 a0008c0011t0008 a0009c0009t0010 |
3 | HG02965.hp2 HG03831.hp2 NA19043.hp2 |
5_prime_UTR_variant | MODIFIER | c.-30C>T | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/4 | 1747 | chr1 | 13201336 | ||||||
| chr1:13201380 | G | C | 1 | a0002c0002t0005 | 2 | HG02257.hp1 NA19240.hp2 |
5_prime_UTR_variant | MODIFIER | c.-74C>G | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/4 | 1791 | chr1 | 13201380 | ||||||
| chr1:13201389 | C | T | 1 | a0002c0002t0005 | 2 | HG02257.hp1 NA19240.hp2 |
5_prime_UTR_variant | MODIFIER | c.-83G>A | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/4 | 1800 | chr1 | 13201389 | ||||||
| chr1:13201394 | A | T | 1 | a0002c0002t0005 | 2 | HG02257.hp1 NA19240.hp2 |
5_prime_UTR_variant | MODIFIER | c.-88T>A | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/4 | 1805 | chr1 | 13201394 | ||||||
| chr1:13201395 | A | G | 1 | a0002c0002t0005 | 2 | HG02257.hp1 NA19240.hp2 |
5_prime_UTR_variant | MODIFIER | c.-89T>C | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/4 | 1806 | chr1 | 13201395 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:13197455 | G | A | 15 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0019 others(12): Show |
29 | HG01167.hp1 HG01261.hp2 HG02257.hp2 others(26): Show |
intron_variant | MODIFIER | c.867-74C>T | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/3 | chr1 | 13197455 | |||||||
| chr1:13197461 | G | A | 15 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0019 others(12): Show |
29 | HG01167.hp1 HG01261.hp2 HG02257.hp2 others(26): Show |
intron_variant | MODIFIER | c.867-80C>T | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/3 | chr1 | 13197461 | |||||||
| chr1:13197674 | G | C | 8 | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0022 others(5): Show |
18 | HG01167.hp1 HG01261.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.867-293C>G | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/3 | chr1 | 13197674 | |||||||
| chr1:13197808 | A | C | 25 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0019 others(22): Show |
41 | HG01167.hp1 HG01261.hp2 HG02257.hp1 others(38): Show |
intron_variant | MODIFIER | c.867-427T>G | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/3 | chr1 | 13197808 | |||||||
| chr1:13197936 | G | A | 1 | a0003c0006t0003g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.866+392C>T | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/3 | chr1 | 13197936 | |||||||
| chr1:13197966 | A | G | 7 | a0001c0001t0001g0005 a0003c0005t0003g0004 a0003c0006t0003g0012 others(4): Show |
9 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.866+362T>C | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/3 | chr1 | 13197966 | |||||||
| chr1:13198045 | C | G | 1 | a0011c0017t0003g0014 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.866+283G>C | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/3 | chr1 | 13198045 | |||||||
| chr1:13198060 | A | T | 1 | a0001c0001t0001g0019 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.866+268T>A | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/3 | chr1 | 13198060 | |||||||
| chr1:13198918 | G | A | 9 | a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(6): Show |
10 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.288-12C>T | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 2/3 | chr1 | 13198918 | |||||||
| chr1:13198993 | T | TCATG | 4 | a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(1): Show |
5 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.288-88_288-87insCA others(2): Show |
PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 2/3 | chr1 | 13198993 | |||||||
| chr1:13198995 | C | A | 9 | a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(6): Show |
10 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.288-89G>T | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 2/3 | chr1 | 13198995 | |||||||
| chr1:13199114 | C | T | 8 | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0022 others(5): Show |
18 | HG01167.hp1 HG01261.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.287+189G>A | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 2/3 | chr1 | 13199114 | |||||||
| chr1:13199161 | C | A | 4 | a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(1): Show |
5 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.287+142G>T | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 2/3 | chr1 | 13199161 | |||||||
| chr1:13199173 | C | T | 2 | a0001c0008t0001g0008 a0006c0004t0001g0007 |
4 | HG02280.hp1 HG02630.hp2 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.287+130G>A | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 2/3 | chr1 | 13199173 | |||||||
| chr1:13199190 | G | A | 1 | a0011c0017t0003g0014 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.287+113C>T | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 2/3 | chr1 | 13199190 | |||||||
| chr1:13199262 | A | G | 6 | a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(3): Show |
7 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.287+41T>C | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 2/3 | chr1 | 13199262 | |||||||
| chr1:13199641 | A | G | 2 | a0004c0003t0001g0010 a0004c0003t0001g0020 |
2 | HG02602.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.-25-27T>C | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13199641 | |||||||
| chr1:13199753 | A | T | 6 | a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(3): Show |
7 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.-25-139T>A | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13199753 | |||||||
| chr1:13199755 | T | C | 6 | a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(3): Show |
7 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.-25-141A>G | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13199755 | |||||||
| chr1:13199756 | G | A | 6 | a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(3): Show |
7 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.-25-142C>T | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13199756 | |||||||
| chr1:13199757 | C | T | 6 | a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(3): Show |
7 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.-25-143G>A | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13199757 | |||||||
| chr1:13199832 | A | G | 1 | a0001c0001t0007g0015 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-25-218T>C | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13199832 | |||||||
| chr1:13199850 | A | C | 10 | a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(7): Show |
11 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.-25-236T>G | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13199850 | |||||||
| chr1:13199954 | C | G | 1 | a0007c0007t0006g0006 | 2 | HG02970.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.-25-340G>C | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13199954 | |||||||
| chr1:13199980 | A | T | 1 | a0001c0001t0001g0019 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.-25-366T>A | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13199980 | |||||||
| chr1:13200067 | T | A | 4 | a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(1): Show |
5 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.-25-453A>T | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13200067 | |||||||
| chr1:13200096 | T | C | 1 | a0001c0001t0004g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-25-482A>G | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13200096 | |||||||
| chr1:13200104 | C | T | 2 | a0001c0001t0001g0005 a0010c0013t0001g0018 |
3 | HG02976.hp2 HG03098.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-25-490G>A | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13200104 | |||||||
| chr1:13200248 | A | G | 2 | a0005c0015t0003g0024 a0005c0016t0009g0025 |
2 | HG03831.hp1 NA19000.hp2 |
intron_variant | MODIFIER | c.-25-634T>C | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13200248 | |||||||
| chr1:13200408 | C | G | 9 | a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(6): Show |
10 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.-25-794G>C | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13200408 | |||||||
| chr1:13200488 | A | G | 1 | a0001c0001t0004g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-26+844T>C | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13200488 | |||||||
| chr1:13200502 | C | G | 4 | a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(1): Show |
5 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.-26+830G>C | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13200502 | |||||||
| chr1:13200585 | A | C | 11 | a0001c0001t0007g0015 a0001c0001t0007g0016 a0003c0005t0003g0004 others(8): Show |
12 | HG02280.hp2 HG02602.hp2 HG02622.hp1 others(9): Show |
intron_variant | MODIFIER | c.-26+747T>G | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13200585 | |||||||
| chr1:13200650 | G | A | 1 | a0004c0003t0001g0010 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-26+682C>T | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13200650 | |||||||
| chr1:13200887 | T | G | 1 | a0001c0001t0001g0022 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.-26+445A>C | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13200887 | |||||||
| chr1:13200946 | C | G | 9 | a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(6): Show |
10 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.-26+386G>C | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13200946 | |||||||
| chr1:13201028 | T | TTGAAAGG others(330): Show |
1 | a0012c0014t0002g0023 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-26+303_-26+304ins others(337): Show |
PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13201028 | |||||||
| chr1:13201033 | A | G | 25 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0019 others(22): Show |
40 | HG01167.hp1 HG01261.hp2 HG02257.hp2 others(37): Show |
intron_variant | MODIFIER | c.-26+299T>C | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13201033 | |||||||
| chr1:13201046 | A | G | 3 | a0008c0010t0008g0026 a0008c0011t0008g0027 a0009c0009t0010g0028 |
3 | HG02965.hp2 HG03831.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-26+286T>C | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13201046 | |||||||
| chr1:13201106 | A | T | 7 | a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(4): Show |
8 | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.-26+226T>A | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13201106 | |||||||
| chr1:13201251 | C | A | 1 | a0005c0016t0009g0025 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-26+81G>T | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13201251 | |||||||
| chr1:13201272 | C | G | 1 | a0004c0003t0001g0010 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-26+60G>C | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13201272 | |||||||
| chr1:13201317 | C | A | 2 | a0005c0015t0003g0024 a0005c0016t0009g0025 |
2 | HG03831.hp1 NA19000.hp2 |
intron_variant | MODIFIER | c.-26+15G>T | PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1/3 | chr1 | 13201317 |