Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 101929983 |
| ensemblid | ENSG00000274764.6 |
| hgncid | 51234 |
| symbol | PRAMEF27 |
| name | PRAME family member 27 |
| refseq_nuc | NM_001300891.2 |
| refseq_prot | NP_001287820.1 |
| ensembl_nuc | ENST00000436041.6 |
| ensembl_prot | ENSP00000393136.2 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 13049476 |
| end | 13056575 |
| strand | - |
| ver | v1.2 |
| region | chr1:13049476-13056575 |
| region5000 | chr1:13044476-13061575 |
| regionname0 | PRAMEF27_chr1_13049476_13056575 |
| regionname5000 | PRAMEF27_chr1_13044476_13061575 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 478 | 103 | 2 | 35 | 59 | 6 | 1 | 38 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | MKMSI others(473): Show |
chr1 | 13044476 | 13061575 |
| a0002 | 0/0 | 478 | 3 | 0 | 1 | 0 | 2 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | MKMSI others(473): Show |
chr1 | 13044476 | 13061575 |
| a0003 | 0/0 | 478 | 3 | 0 | 0 | 3 | 0 | 0 | 2 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | MKMSI others(473): Show |
chr1 | 13044476 | 13061575 |
| a0004 | 0/0 | 478 | 3 | 0 | 0 | 3 | 0 | 0 | 3 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | MKMSI others(473): Show |
chr1 | 13044476 | 13061575 |
| a0005 | 0/0 | 478 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | MKMSI others(473): Show |
chr1 | 13044476 | 13061575 |
| a0006 | 0/0 | 478 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | MKMSI others(473): Show |
chr1 | 13044476 | 13061575 |
| a0007 | 0/0 | 478 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | MKMSI others(473): Show |
chr1 | 13044476 | 13061575 |
| a0008 | 0/0 | 478 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | MKMSI others(473): Show |
chr1 | 13044476 | 13061575 |
| a0009 | 0/0 | 478 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | MKMSI others(473): Show |
chr1 | 13044476 | 13061575 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1434 | 101 | 2 | 33 | 59 | 6 | 1 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | ATGAA others(1429): Show |
chr1 | 13044476 | 13061575 | ||
| a0001c0006 | 0/0 | 1434 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | ATGAA others(1429): Show |
chr1 | 13044476 | 13061575 | ||
| a0001c0008 | 0/0 | 1434 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | ATGAA others(1429): Show |
chr1 | 13044476 | 13061575 | ||
| a0002c0004 | 0/0 | 1434 | 3 | 0 | 1 | 0 | 2 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | ATGAA others(1429): Show |
chr1 | 13044476 | 13061575 | ||
| a0003c0003 | 0/0 | 1434 | 3 | 0 | 0 | 3 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | ATGAA others(1429): Show |
chr1 | 13044476 | 13061575 | ||
| a0004c0002 | 0/0 | 1434 | 3 | 0 | 0 | 3 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | ATGAA others(1429): Show |
chr1 | 13044476 | 13061575 | ||
| a0005c0005 | 0/0 | 1434 | 2 | 0 | 2 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | ATGAA others(1429): Show |
chr1 | 13044476 | 13061575 | ||
| a0006c0010 | 0/0 | 1434 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | ATGAA others(1429): Show |
chr1 | 13044476 | 13061575 | ||
| a0007c0007 | 0/0 | 1434 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | ATGAA others(1429): Show |
chr1 | 13044476 | 13061575 | ||
| a0008c0009 | 0/0 | 1434 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | ATGAA others(1429): Show |
chr1 | 13044476 | 13061575 | ||
| a0009c0011 | 0/0 | 1434 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | ATGAA others(1429): Show |
chr1 | 13044476 | 13061575 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1947 | 94 | 2 | 31 | 55 | 5 | 1 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | AGCTA others(1942): Show |
chr1 | 13044476 | 13061575 |
| a0001c0001t0002 | 0/0 | 1947 | 3 | 0 | 1 | 1 | 1 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | AGCTA others(1942): Show |
chr1 | 13044476 | 13061575 |
| a0001c0001t0003 | 0/0 | 1947 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | AGCTA others(1942): Show |
chr1 | 13044476 | 13061575 |
| a0001c0001t0004 | 0/0 | 1947 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | AGCTA others(1942): Show |
chr1 | 13044476 | 13061575 |
| a0001c0001t0006 | 0/0 | 1947 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | ATCTA others(1942): Show |
chr1 | 13044476 | 13061575 |
| a0001c0006t0001 | 0/0 | 1947 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | AGCTA others(1942): Show |
chr1 | 13044476 | 13061575 |
| a0001c0008t0001 | 0/0 | 1947 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | AGCTA others(1942): Show |
chr1 | 13044476 | 13061575 |
| a0002c0004t0001 | 0/0 | 1947 | 3 | 0 | 1 | 0 | 2 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | AGCTA others(1942): Show |
chr1 | 13044476 | 13061575 |
| a0003c0003t0001 | 0/0 | 1947 | 3 | 0 | 0 | 3 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | AGCTA others(1942): Show |
chr1 | 13044476 | 13061575 |
| a0004c0002t0001 | 0/0 | 1947 | 3 | 0 | 0 | 3 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | AGCTA others(1942): Show |
chr1 | 13044476 | 13061575 |
| a0005c0005t0005 | 0/0 | 1947 | 2 | 0 | 2 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | AGCTA others(1942): Show |
chr1 | 13044476 | 13061575 |
| a0006c0010t0001 | 0/0 | 1947 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | AGCTA others(1942): Show |
chr1 | 13044476 | 13061575 |
| a0007c0007t0001 | 0/0 | 1947 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | AGCTA others(1942): Show |
chr1 | 13044476 | 13061575 |
| a0008c0009t0001 | 0/0 | 1947 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | AGCTA others(1942): Show |
chr1 | 13044476 | 13061575 |
| a0009c0011t0004 | 0/0 | 1947 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | AGCTA others(1942): Show |
chr1 | 13044476 | 13061575 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 33 | 1 | 12 | 17 | 2 | 1 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0002 | 0/0 | 29 | 1 | 8 | 18 | 2 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0003 | 0/0 | 6 | 0 | 0 | 6 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0004 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0005 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0007 | 0/0 | 3 | 0 | 2 | 0 | 1 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0013 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0002g0009 | 0/0 | 3 | 0 | 1 | 1 | 1 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0003g0012 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0004g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0001t0006g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0006t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0001c0008t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0002c0004t0001g0011 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0002c0004t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0003c0003t0001g0006 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0004c0002t0001g0008 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0005c0005t0005g0010 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0006c0010t0001g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0007c0007t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0008c0009t0001g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| a0009c0011t0004g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | FIN | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00280 | hp2 | a0002 | c0004 | t0001 | g0011 | EUR | FIN | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00408 | hp2 | a0001 | c0001 | t0003 | g0012 | EAS | CHS | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | CHS | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | CHS | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0015 | EAS | CHS | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0021 | EAS | CHS | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00639 | hp2 | a0005 | c0005 | t0005 | g0010 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | CHS | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0019 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00735 | hp2 | a0002 | c0004 | t0001 | g0022 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00738 | hp1 | a0005 | c0005 | t0005 | g0010 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0026 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01074 | hp1 | a0006 | c0010 | t0001 | g0033 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01081 | hp1 | a0001 | c0001 | t0006 | g0036 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | CLM | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0013 | AMR | CLM | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0027 | AMR | CLM | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01361 | hp2 | a0001 | c0001 | t0001 | g0013 | AMR | CLM | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01433 | hp1 | a0001 | c0008 | t0001 | g0020 | AMR | CLM | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01517 | hp1 | a0001 | c0001 | t0002 | g0009 | EUR | IBS | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0007 | EUR | IBS | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01943 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0023 | AMR | PEL | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG02004 | hp2 | a0007 | c0007 | t0001 | g0029 | AMR | PEL | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG02132 | hp2 | a0001 | c0001 | t0002 | g0009 | EAS | KHV | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG02135 | hp1 | a0003 | c0003 | t0001 | g0006 | EAS | KHV | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CDX | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG02293 | hp1 | a0001 | c0006 | t0001 | g0025 | AMR | PEL | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | PEL | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG03710 | hp2 | a0008 | c0009 | t0001 | g0031 | SAS | PJL | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0018 | EAS | CHB | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0017 | EAS | CHB | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHB | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CHB | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18941 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18943 | hp2 | a0001 | c0001 | t0003 | g0012 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18951 | hp2 | a0003 | c0003 | t0001 | g0006 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18952 | hp2 | a0004 | c0002 | t0001 | g0008 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0024 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18965 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18970 | hp1 | a0004 | c0002 | t0001 | g0008 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18970 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18972 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18972 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18974 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18974 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18976 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18976 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA18989 | hp2 | a0001 | c0001 | t0004 | g0034 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19001 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19001 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19054 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19054 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19058 | hp1 | a0004 | c0002 | t0001 | g0008 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19058 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19074 | hp1 | a0009 | c0011 | t0004 | g0035 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19074 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19079 | hp1 | a0003 | c0003 | t0001 | g0006 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19081 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19081 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0002 | EUR | TSI | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0002 | EUR | TSI | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| NA20805 | hp2 | a0002 | c0004 | t0001 | g0011 | EUR | TSI | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01123 | hp1 | a0001 | c0001 | t0002 | g0009 | AMR | CLM | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| HG01123 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | PRAMEF27_chr1_13044476_13061575 | PRAMEF27 | chr1 | 13044476 | 13061575 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:13049870 | T | A | 1 | a0005 | 2 | HG00639.hp2 HG00738.hp1 |
missense_variant | MODERATE | c.1375A>T | p.Asn459Tyr | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1553/1947 | 1375/1437 | 459/478 | chr1 | 13049870 | |||
| chr1:13049875 | A | G | 1 | a0005 | 2 | HG00639.hp2 HG00738.hp1 |
missense_variant | MODERATE | c.1370T>C | p.Ile457Thr | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1548/1947 | 1370/1437 | 457/478 | chr1 | 13049875 | |||
| chr1:13049879 | A | C | 1 | a0005 | 2 | HG00639.hp2 HG00738.hp1 |
missense_variant | MODERATE | c.1366T>G | p.Cys456Gly | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1544/1947 | 1366/1437 | 456/478 | chr1 | 13049879 | |||
| chr1:13049883 | A | C | 1 | a0005 | 2 | HG00639.hp2 HG00738.hp1 |
missense_variant | MODERATE | c.1362T>G | p.Phe454Leu | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1540/1947 | 1362/1437 | 454/478 | chr1 | 13049883 | |||
| chr1:13049919 | G | C | 1 | a0005 | 2 | HG00639.hp2 HG00738.hp1 |
missense_variant | MODERATE | c.1326C>G | p.Asn442Lys | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1504/1947 | 1326/1437 | 442/478 | chr1 | 13049919 | |||
| chr1:13049945 | C | T | 1 | a0005 | 2 | HG00639.hp2 HG00738.hp1 |
missense_variant | MODERATE | c.1300G>A | p.Ala434Thr | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1478/1947 | 1300/1437 | 434/478 | chr1 | 13049945 | |||
| chr1:13049953 | T | C | 2 | a0005 a0009 |
3 | HG00639.hp2 HG00738.hp1 NA19074.hp1 |
missense_variant | MODERATE | c.1292A>G | p.Asn431Ser | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1470/1947 | 1292/1437 | 431/478 | chr1 | 13049953 | |||
| chr1:13049989 | C | T | 1 | a0009 | 1 | NA19074.hp1 | missense_variant | MODERATE | c.1256G>A | p.Arg419Gln | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1434/1947 | 1256/1437 | 419/478 | chr1 | 13049989 | |||
| chr1:13050005 | C | G | 1 | a0005 | 2 | HG00639.hp2 HG00738.hp1 |
missense_variant | MODERATE | c.1240G>C | p.Val414Leu | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1418/1947 | 1240/1437 | 414/478 | chr1 | 13050005 | |||
| chr1:13050011 | C | G | 1 | a0005 | 2 | HG00639.hp2 HG00738.hp1 |
missense_variant | MODERATE | c.1234G>C | p.Val412Leu | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1412/1947 | 1234/1437 | 412/478 | chr1 | 13050011 | |||
| chr1:13050095 | C | T | 1 | a0005 | 2 | HG00639.hp2 HG00738.hp1 |
missense_variant | MODERATE | c.1150G>A | p.Ala384Thr | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1328/1947 | 1150/1437 | 384/478 | chr1 | 13050095 | |||
| chr1:13050105 | A | C | 1 | a0009 | 1 | NA19074.hp1 | missense_variant | MODERATE | c.1140T>G | p.Phe380Leu | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1318/1947 | 1140/1437 | 380/478 | chr1 | 13050105 | |||
| chr1:13050190 | G | A | 1 | a0009 | 1 | NA19074.hp1 | missense_variant | MODERATE | c.1055C>T | p.Ala352Val | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1233/1947 | 1055/1437 | 352/478 | chr1 | 13050190 | |||
| chr1:13050220 | G | A | 1 | a0008 | 1 | HG03710.hp2 | missense_variant | MODERATE | c.1025C>T | p.Pro342Leu | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1203/1947 | 1025/1437 | 342/478 | chr1 | 13050220 | |||
| chr1:13050347 | C | A | 1 | a0002 | 3 | HG00280.hp2 HG00735.hp2 NA20805.hp2 |
missense_variant | MODERATE | c.898G>T | p.Val300Phe | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1076/1947 | 898/1437 | 300/478 | chr1 | 13050347 | |||
| chr1:13052166 | T | G | 1 | a0006 | 1 | HG01074.hp1 | missense_variant | MODERATE | c.827A>C | p.Tyr276Ser | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/4 | 1005/1947 | 827/1437 | 276/478 | chr1 | 13052166 | |||
| chr1:13052338 | C | T | 1 | a0003 | 3 | HG02135.hp1 NA18951.hp2 NA19079.hp1 |
missense_variant | MODERATE | c.655G>A | p.Val219Ile | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/4 | 833/1947 | 655/1437 | 219/478 | chr1 | 13052338 | |||
| chr1:13052556 | T | C | 2 | a0004 a0009 |
4 | NA18952.hp2 NA18970.hp1 NA19058.hp1 others(1): Show |
missense_variant | MODERATE | c.437A>G | p.Gln146Arg | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/4 | 615/1947 | 437/1437 | 146/478 | chr1 | 13052556 | |||
| chr1:13052589 | G | T | 1 | a0004 | 3 | NA18952.hp2 NA18970.hp1 NA19058.hp1 |
missense_variant | MODERATE | c.404C>A | p.Thr135Lys | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/4 | 582/1947 | 404/1437 | 135/478 | chr1 | 13052589 | |||
| chr1:13052616 | G | C | 2 | a0004 a0009 |
4 | NA18952.hp2 NA18970.hp1 NA19058.hp1 others(1): Show |
missense_variant | MODERATE | c.377C>G | p.Ser126Cys | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/4 | 555/1947 | 377/1437 | 126/478 | chr1 | 13052616 | |||
| chr1:13052622 | C | T | 1 | a0004 | 3 | NA18952.hp2 NA18970.hp1 NA19058.hp1 |
missense_variant | MODERATE | c.371G>A | p.Arg124His | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/4 | 549/1947 | 371/1437 | 124/478 | chr1 | 13052622 | |||
| chr1:13053512 | A | G | 2 | a0007 a0009 |
2 | HG02004.hp2 NA19074.hp1 |
missense_variant | MODERATE | c.148T>C | p.Cys50Arg | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/4 | 326/1947 | 148/1437 | 50/478 | chr1 | 13053512 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:13049871 | A | G | 2 | a0005c0005 a0009c0011 |
3 | HG00639.hp2 HG00738.hp1 NA19074.hp1 |
synonymous_variant | LOW | c.1374T>C | p.Asp458Asp | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1552/1947 | 1374/1437 | 458/478 | chr1 | 13049871 | |||
| chr1:13049913 | C | A | 1 | a0005c0005 | 2 | HG00639.hp2 HG00738.hp1 |
synonymous_variant | LOW | c.1332G>T | p.Val444Val | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1510/1947 | 1332/1437 | 444/478 | chr1 | 13049913 | |||
| chr1:13049940 | T | C | 1 | a0005c0005 | 2 | HG00639.hp2 HG00738.hp1 |
synonymous_variant | LOW | c.1305A>G | p.Gln435Gln | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1483/1947 | 1305/1437 | 435/478 | chr1 | 13049940 | |||
| chr1:13049991 | C | T | 1 | a0005c0005 | 2 | HG00639.hp2 HG00738.hp1 |
synonymous_variant | LOW | c.1254G>A | p.Pro418Pro | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1432/1947 | 1254/1437 | 418/478 | chr1 | 13049991 | |||
| chr1:13050096 | A | G | 1 | a0005c0005 | 2 | HG00639.hp2 HG00738.hp1 |
synonymous_variant | LOW | c.1149T>C | p.Asn383Asn | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1327/1947 | 1149/1437 | 383/478 | chr1 | 13050096 | |||
| chr1:13050135 | G | A | 1 | a0009c0011 | 1 | NA19074.hp1 | synonymous_variant | LOW | c.1110C>T | p.Asn370Asn | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1288/1947 | 1110/1437 | 370/478 | chr1 | 13050135 | |||
| chr1:13050176 | A | G | 2 | a0005c0005 a0009c0011 |
3 | HG00639.hp2 HG00738.hp1 NA19074.hp1 |
synonymous_variant | LOW | c.1069T>C | p.Leu357Leu | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 1247/1947 | 1069/1437 | 357/478 | chr1 | 13050176 | |||
| chr1:13052267 | A | G | 1 | a0009c0011 | 1 | NA19074.hp1 | synonymous_variant | LOW | c.726T>C | p.Ser242Ser | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/4 | 904/1947 | 726/1437 | 242/478 | chr1 | 13052267 | |||
| chr1:13053399 | A | C | 2 | a0001c0008 a0009c0011 |
2 | HG01433.hp1 NA19074.hp1 |
synonymous_variant | LOW | c.261T>G | p.Leu87Leu | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/4 | 439/1947 | 261/1437 | 87/478 | chr1 | 13053399 | |||
| chr1:13053561 | C | T | 1 | a0001c0006 | 1 | HG02293.hp1 | synonymous_variant | LOW | c.99G>A | p.Leu33Leu | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/4 | 277/1947 | 99/1437 | 33/478 | chr1 | 13053561 | |||
| chr1:13053588 | G | A | 1 | a0009c0011 | 1 | NA19074.hp1 | synonymous_variant | LOW | c.72C>T | p.Ala24Ala | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/4 | 250/1947 | 72/1437 | 24/478 | chr1 | 13053588 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:13049556 | G | A | 1 | a0001c0001t0002 | 3 | HG01123.hp1 HG01517.hp1 HG02132.hp2 |
3_prime_UTR_variant | MODIFIER | c.*252C>T | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 252 | chr1 | 13049556 | ||||||
| chr1:13049559 | C | T | 15 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show |
118 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(115): Show |
3_prime_UTR_variant | MODIFIER | c.*249G>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 249 | chr1 | 13049559 | ||||||
| chr1:13049621 | A | G | 2 | a0001c0001t0004 a0009c0011t0004 |
2 | NA18989.hp2 NA19074.hp1 |
3_prime_UTR_variant | MODIFIER | c.*187T>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 187 | chr1 | 13049621 | ||||||
| chr1:13049662 | T | C | 1 | a0001c0001t0003 | 2 | HG00408.hp2 NA18943.hp2 |
3_prime_UTR_variant | MODIFIER | c.*146A>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 146 | chr1 | 13049662 | ||||||
| chr1:13049671 | T | A | 3 | a0001c0001t0004 a0005c0005t0005 a0009c0011t0004 |
4 | HG00639.hp2 HG00738.hp1 NA18989.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*137A>T | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 137 | chr1 | 13049671 | ||||||
| chr1:13049694 | T | C | 1 | a0005c0005t0005 | 2 | HG00639.hp2 HG00738.hp1 |
3_prime_UTR_variant | MODIFIER | c.*114A>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 114 | chr1 | 13049694 | ||||||
| chr1:13049705 | T | C | 1 | a0005c0005t0005 | 2 | HG00639.hp2 HG00738.hp1 |
3_prime_UTR_variant | MODIFIER | c.*103A>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 4/4 | 103 | chr1 | 13049705 | ||||||
| chr1:13056574 | C | A | 1 | a0001c0001t0006 | 1 | HG01081.hp1 | 5_prime_UTR_variant | MODIFIER | c.-177G>T | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/4 | 2915 | chr1 | 13056574 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:13050459 | C | A | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.876-90G>T | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13050459 | |||||||
| chr1:13050461 | A | T | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.876-92T>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13050461 | |||||||
| chr1:13050511 | A | G | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.876-142T>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13050511 | |||||||
| chr1:13050554 | C | T | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.876-185G>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13050554 | |||||||
| chr1:13050669 | C | G | 2 | a0001c0001t0001g0021 a0002c0004t0001g0022 |
2 | HG00544.hp1 HG00735.hp2 |
intron_variant | MODIFIER | c.876-300G>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13050669 | |||||||
| chr1:13050756 | T | C | 3 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0004c0002t0001g0008 |
10 | NA18952.hp2 NA18965.hp1 NA18970.hp1 others(7): Show |
intron_variant | MODIFIER | c.876-387A>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13050756 | |||||||
| chr1:13050869 | A | G | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.876-500T>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13050869 | |||||||
| chr1:13050981 | A | G | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.876-612T>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13050981 | |||||||
| chr1:13050996 | T | A | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.876-627A>T | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13050996 | |||||||
| chr1:13051235 | T | C | 1 | a0001c0001t0001g0032 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.876-866A>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051235 | |||||||
| chr1:13051248 | G | T | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.875+870C>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051248 | |||||||
| chr1:13051304 | C | G | 22 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(19): Show |
72 | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(69): Show |
intron_variant | MODIFIER | c.875+814G>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051304 | |||||||
| chr1:13051317 | T | C | 2 | a0001c0001t0004g0034 a0009c0011t0004g0035 |
2 | NA18989.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.875+801A>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051317 | |||||||
| chr1:13051318 | A | C | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.875+800T>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051318 | |||||||
| chr1:13051327 | G | T | 2 | a0001c0001t0004g0034 a0009c0011t0004g0035 |
2 | NA18989.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.875+791C>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051327 | |||||||
| chr1:13051387 | G | A | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.875+731C>T | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051387 | |||||||
| chr1:13051400 | G | T | 21 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(18): Show |
71 | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(68): Show |
intron_variant | MODIFIER | c.875+718C>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051400 | |||||||
| chr1:13051402 | C | T | 22 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(19): Show |
72 | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(69): Show |
intron_variant | MODIFIER | c.875+716G>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051402 | |||||||
| chr1:13051433 | T | G | 1 | a0001c0001t0006g0036 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.875+685A>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051433 | |||||||
| chr1:13051492 | C | G | 1 | a0001c0001t0006g0036 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.875+626G>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051492 | |||||||
| chr1:13051495 | A | G | 1 | a0001c0001t0006g0036 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.875+623T>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051495 | |||||||
| chr1:13051500 | T | C | 1 | a0001c0001t0006g0036 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.875+618A>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051500 | |||||||
| chr1:13051522 | A | G | 1 | a0001c0001t0006g0036 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.875+596T>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051522 | |||||||
| chr1:13051542 | C | T | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.875+576G>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051542 | |||||||
| chr1:13051582 | G | T | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.875+536C>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051582 | |||||||
| chr1:13051596 | T | C | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.875+522A>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051596 | |||||||
| chr1:13051670 | C | A | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.875+448G>T | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051670 | |||||||
| chr1:13051675 | C | T | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.875+443G>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051675 | |||||||
| chr1:13051761 | A | C | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.875+357T>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051761 | |||||||
| chr1:13051786 | C | T | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.875+332G>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051786 | |||||||
| chr1:13051875 | T | G | 2 | a0001c0001t0001g0023 a0009c0011t0004g0035 |
2 | HG01993.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.875+243A>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051875 | |||||||
| chr1:13051894 | A | G | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.875+224T>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051894 | |||||||
| chr1:13051992 | T | C | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.875+126A>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13051992 | |||||||
| chr1:13052060 | C | T | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.875+58G>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13052060 | |||||||
| chr1:13052064 | T | G | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.875+54A>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13052064 | |||||||
| chr1:13052066 | G | C | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.875+52C>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13052066 | |||||||
| chr1:13052069 | A | T | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.875+49T>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 3/3 | chr1 | 13052069 | |||||||
| chr1:13052718 | G | A | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.294-19C>T | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13052718 | |||||||
| chr1:13052722 | C | A | 1 | a0004c0002t0001g0008 | 3 | NA18952.hp2 NA18970.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.294-23G>T | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13052722 | |||||||
| chr1:13052732 | A | C | 1 | a0004c0002t0001g0008 | 3 | NA18952.hp2 NA18970.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.294-33T>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13052732 | |||||||
| chr1:13052749 | T | C | 1 | a0004c0002t0001g0008 | 3 | NA18952.hp2 NA18970.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.294-50A>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13052749 | |||||||
| chr1:13052782 | C | T | 1 | a0001c0001t0001g0005 | 3 | HG01069.hp1 HG01071.hp2 HG01099.hp1 |
intron_variant | MODIFIER | c.294-83G>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13052782 | |||||||
| chr1:13052821 | T | C | 1 | a0004c0002t0001g0008 | 3 | NA18952.hp2 NA18970.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.294-122A>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13052821 | |||||||
| chr1:13052827 | C | T | 2 | a0004c0002t0001g0008 a0009c0011t0004g0035 |
4 | NA18952.hp2 NA18970.hp1 NA19058.hp1 others(1): Show |
intron_variant | MODIFIER | c.294-128G>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13052827 | |||||||
| chr1:13052842 | A | G | 1 | a0004c0002t0001g0008 | 3 | NA18952.hp2 NA18970.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.294-143T>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13052842 | |||||||
| chr1:13052862 | GT | G | 3 | a0001c0001t0001g0030 a0004c0002t0001g0008 a0009c0011t0004g0035 |
5 | NA18952.hp2 NA18970.hp1 NA19058.hp1 others(2): Show |
intron_variant | MODIFIER | c.294-164delA | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13052862 | |||||||
| chr1:13052869 | T | C | 1 | a0004c0002t0001g0008 | 3 | NA18952.hp2 NA18970.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.294-170A>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13052869 | |||||||
| chr1:13052874 | G | C | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.294-175C>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13052874 | |||||||
| chr1:13052904 | A | G | 1 | a0004c0002t0001g0008 | 3 | NA18952.hp2 NA18970.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.294-205T>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13052904 | |||||||
| chr1:13052922 | G | A | 1 | a0004c0002t0001g0008 | 3 | NA18952.hp2 NA18970.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.294-223C>T | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13052922 | |||||||
| chr1:13052948 | T | C | 2 | a0004c0002t0001g0008 a0009c0011t0004g0035 |
4 | NA18952.hp2 NA18970.hp1 NA19058.hp1 others(1): Show |
intron_variant | MODIFIER | c.294-249A>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13052948 | |||||||
| chr1:13053001 | G | A | 1 | a0004c0002t0001g0008 | 3 | NA18952.hp2 NA18970.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.294-302C>T | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13053001 | |||||||
| chr1:13053006 | C | G | 3 | a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0004g0034 |
6 | HG00423.hp2 HG00438.hp1 HG00673.hp2 others(3): Show |
intron_variant | MODIFIER | c.294-307G>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13053006 | |||||||
| chr1:13053011 | A | T | 3 | a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0004g0034 |
6 | HG00423.hp2 HG00438.hp1 HG00673.hp2 others(3): Show |
intron_variant | MODIFIER | c.294-312T>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13053011 | |||||||
| chr1:13053027 | A | T | 1 | a0004c0002t0001g0008 | 3 | NA18952.hp2 NA18970.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.294-328T>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13053027 | |||||||
| chr1:13053084 | A | G | 1 | a0004c0002t0001g0008 | 3 | NA18952.hp2 NA18970.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.293+283T>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13053084 | |||||||
| chr1:13053101 | T | G | 1 | a0001c0001t0004g0034 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.293+266A>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13053101 | |||||||
| chr1:13053207 | G | A | 1 | a0001c0001t0001g0024 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.293+160C>T | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13053207 | |||||||
| chr1:13053273 | C | G | 1 | a0001c0001t0001g0021 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.293+94G>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13053273 | |||||||
| chr1:13053298 | C | G | 1 | a0001c0001t0001g0021 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.293+69G>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13053298 | |||||||
| chr1:13053299 | A | T | 1 | a0001c0001t0001g0021 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.293+68T>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13053299 | |||||||
| chr1:13053306 | C | A | 1 | a0001c0001t0001g0021 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.293+61G>T | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13053306 | |||||||
| chr1:13053312 | G | C | 1 | a0001c0001t0001g0021 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.293+55C>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13053312 | |||||||
| chr1:13053319 | C | T | 1 | a0001c0001t0001g0021 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.293+48G>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13053319 | |||||||
| chr1:13053320 | A | G | 1 | a0001c0001t0001g0021 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.293+47T>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13053320 | |||||||
| chr1:13053327 | C | T | 1 | a0001c0001t0001g0021 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.293+40G>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13053327 | |||||||
| chr1:13053357 | G | C | 2 | a0001c0001t0001g0026 a0009c0011t0004g0035 |
2 | HG00738.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.293+10C>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 2/3 | chr1 | 13053357 | |||||||
| chr1:13053768 | A | C | 1 | a0001c0008t0001g0020 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.-16-93T>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13053768 | |||||||
| chr1:13053802 | G | A | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.-16-127C>T | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13053802 | |||||||
| chr1:13053804 | C | T | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.-16-129G>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13053804 | |||||||
| chr1:13053834 | G | C | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.-16-159C>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13053834 | |||||||
| chr1:13053985 | G | A | 1 | a0009c0011t0004g0035 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.-16-310C>T | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13053985 | |||||||
| chr1:13053996 | G | T | 1 | a0001c0001t0001g0028 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.-16-321C>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13053996 | |||||||
| chr1:13054059 | A | T | 1 | a0001c0001t0001g0027 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.-16-384T>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13054059 | |||||||
| chr1:13054313 | A | G | 1 | a0001c0001t0001g0019 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-16-638T>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13054313 | |||||||
| chr1:13054333 | G | C | 1 | a0001c0006t0001g0025 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.-16-658C>G | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13054333 | |||||||
| chr1:13054446 | A | G | 1 | a0001c0001t0001g0018 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.-16-771T>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13054446 | |||||||
| chr1:13054448 | G | T | 1 | a0005c0005t0005g0010 | 2 | HG00639.hp2 HG00738.hp1 |
intron_variant | MODIFIER | c.-16-773C>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13054448 | |||||||
| chr1:13054582 | C | T | 1 | a0001c0001t0001g0026 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-16-907G>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13054582 | |||||||
| chr1:13054685 | A | T | 20 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(17): Show |
66 | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(63): Show |
intron_variant | MODIFIER | c.-16-1010T>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13054685 | |||||||
| chr1:13054856 | T | TA | 20 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(17): Show |
66 | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(63): Show |
intron_variant | MODIFIER | c.-16-1182_-16-1181i others(3): Show |
PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13054856 | |||||||
| chr1:13055612 | A | G | 1 | a0001c0001t0001g0017 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.-17+802T>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13055612 | |||||||
| chr1:13055932 | A | G | 1 | a0001c0001t0001g0016 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.-17+482T>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13055932 | |||||||
| chr1:13056119 | C | T | 1 | a0001c0001t0001g0015 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-17+295G>A | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13056119 | |||||||
| chr1:13056176 | G | A | 1 | a0001c0001t0001g0013 | 2 | HG01257.hp2 HG01361.hp2 |
intron_variant | MODIFIER | c.-17+238C>T | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13056176 | |||||||
| chr1:13056370 | C | G | 1 | a0001c0001t0001g0014 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.-17+44G>C | PRAMEF27 | ENSG00000274764.6 | transcript | ENST00000436041.6 | protein_coding | 1/3 | chr1 | 13056370 |