Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 440561 |
|---|---|
| ensemblid | ENSG00000232423.6 |
| hgncid | 30583 |
| symbol | PRAMEF6 |
| name | PRAME family member 6 |
| refseq_nuc | NM_001010889.2 |
| refseq_prot | NP_001010889.1 |
| ensembl_nuc | ENST00000376189.5 |
| ensembl_prot | ENSP00000365360.1 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 12938472 |
| end | 12947580 |
| strand | - |
| ver | v1.2 |
| region | chr1:12938472-12947580 |
| region5000 | chr1:12933472-12952580 |
| regionname0 | PRAMEF6_chr1_12938472_12947580 |
| regionname5000 | PRAMEF6_chr1_12933472_12952580 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 476 | 31 | 3 | 7 | 17 | 1 | 3 | 7 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0002 | 0/0 | 476 | 28 | 2 | 8 | 17 | 0 | 1 | 9 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0003 | 0/0 | 476 | 5 | 0 | 2 | 1 | 1 | 1 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0004 | 0/0 | 476 | 4 | 0 | 2 | 2 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0005 | 0/0 | 476 | 4 | 0 | 0 | 4 | 0 | 0 | 4 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0006 | 0/0 | 476 | 3 | 1 | 2 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0007 | 0/0 | 476 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0008 | 0/0 | 476 | 2 | 0 | 1 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0009 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0010 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0011 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0012 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0013 | 0/0 | 476 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0014 | 0/0 | 476 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0015 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0016 | 0/0 | 476 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0017 | 0/0 | 476 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0018 | 0/0 | 476 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 1431 | 31 | 3 | 7 | 17 | 1 | 3 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0002 | 0/0 | 1431 | 28 | 2 | 8 | 17 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0003 | 0/0 | 1431 | 5 | 0 | 2 | 1 | 1 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0004 | 0/0 | 1431 | 4 | 0 | 0 | 4 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0005 | 0/0 | 1431 | 4 | 0 | 2 | 2 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0006 | 0/0 | 1431 | 3 | 3 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0007 | 0/0 | 1431 | 3 | 1 | 2 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0008 | 0/0 | 1431 | 2 | 0 | 1 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0009 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0010 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0011 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0012 | 0/0 | 1431 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0013 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0014 | 0/0 | 1431 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0015 | 0/0 | 1431 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0016 | 0/0 | 1431 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0017 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| c0018 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 290 | 64 | 6 | 16 | 37 | 1 | 4 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| t0002 | 0/0 | 290 | 7 | 0 | 3 | 3 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| t0003 | 0/0 | 290 | 6 | 4 | 2 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| t0004 | 0/0 | 290 | 6 | 0 | 2 | 2 | 1 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| t0005 | 0/0 | 290 | 4 | 0 | 0 | 4 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| t0006 | 0/0 | 290 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| t0007 | 0/0 | 290 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| t0008 | 0/0 | 290 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 11 | 2 | 4 | 3 | 1 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0002 | 0/0 | 5 | 0 | 3 | 1 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0003 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0004 | 0/0 | 4 | 0 | 3 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0005 | 0/0 | 4 | 0 | 2 | 1 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0006 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0007 | 0/0 | 3 | 1 | 0 | 2 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0008 | 0/0 | 3 | 0 | 0 | 1 | 1 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0011 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0012 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1431 | 31 | 3 | 7 | 17 | 1 | 3 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0002c0002 | 0/0 | 1431 | 28 | 2 | 8 | 17 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0003c0003 | 0/0 | 1431 | 5 | 0 | 2 | 1 | 1 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0004c0005 | 0/0 | 1431 | 4 | 0 | 2 | 2 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0005c0004 | 0/0 | 1431 | 4 | 0 | 0 | 4 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0006c0007 | 0/0 | 1431 | 3 | 1 | 2 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0007c0006 | 0/0 | 1431 | 3 | 3 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0008c0008 | 0/0 | 1431 | 2 | 0 | 1 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0009c0009 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0010c0010 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0011c0011 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0012c0013 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0013c0014 | 0/0 | 1431 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0014c0012 | 0/0 | 1431 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0015c0017 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0016c0015 | 0/0 | 1431 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0017c0016 | 0/0 | 1431 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0018c0018 | 0/0 | 1431 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1720 | 31 | 3 | 7 | 17 | 1 | 3 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0002c0002t0001 | 0/0 | 1720 | 28 | 2 | 8 | 17 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0003c0003t0004 | 0/0 | 1720 | 5 | 0 | 2 | 1 | 1 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0004c0005t0002 | 0/0 | 1720 | 4 | 0 | 2 | 2 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0005c0004t0005 | 0/0 | 1720 | 4 | 0 | 0 | 4 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0006c0007t0003 | 0/0 | 1720 | 3 | 1 | 2 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0007c0006t0003 | 0/0 | 1720 | 3 | 3 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0008c0008t0001 | 0/0 | 1720 | 2 | 0 | 1 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0009c0009t0007 | 0/0 | 1720 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0010c0010t0008 | 0/0 | 1720 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0011c0011t0001 | 0/0 | 1720 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0012c0013t0001 | 0/0 | 1720 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0013c0014t0006 | 0/0 | 1720 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0014c0012t0001 | 0/0 | 1720 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0015c0017t0002 | 0/0 | 1720 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0016c0015t0002 | 0/0 | 1720 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0017c0016t0002 | 0/0 | 1720 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| a0018c0018t0004 | 0/0 | 1720 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | copy fasta | chr1 | 12933472 | 12952580 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 11 | 2 | 4 | 3 | 1 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0003 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0005 | 0/0 | 4 | 0 | 2 | 1 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0007 | 0/0 | 3 | 1 | 0 | 2 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0002 | 0/0 | 5 | 0 | 3 | 1 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0004 | 0/0 | 4 | 0 | 3 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0006 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0002c0002t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0003c0003t0004g0008 | 0/0 | 3 | 0 | 0 | 1 | 1 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0003c0003t0004g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0003c0003t0004g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0004c0005t0002g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0004c0005t0002g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0004c0005t0002g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0004c0005t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0005c0004t0005g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0005c0004t0005g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0005c0004t0005g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0005c0004t0005g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0006c0007t0003g0012 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0006c0007t0003g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0007c0006t0003g0011 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0007c0006t0003g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0008c0008t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0008c0008t0001g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0009c0009t0007g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0010c0010t0008g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0011c0011t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0012c0013t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0013c0014t0006g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0014c0012t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0015c0017t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0016c0015t0002g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0017c0016t0002g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| a0018c0018t0004g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00408 | hp1 | a0002 | c0002 | t0001 | g0009 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00408 | hp2 | a0011 | c0011 | t0001 | g0044 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00423 | hp1 | a0012 | c0013 | t0001 | g0047 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00423 | hp2 | a0002 | c0002 | t0001 | g0004 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0053 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00609 | hp2 | a0004 | c0005 | t0002 | g0022 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00621 | hp1 | a0002 | c0002 | t0001 | g0006 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00621 | hp2 | a0002 | c0002 | t0001 | g0037 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0051 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00673 | hp2 | a0002 | c0002 | t0001 | g0009 | EAS | CHS | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00735 | hp1 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00735 | hp2 | a0002 | c0002 | t0001 | g0002 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00738 | hp1 | a0002 | c0002 | t0001 | g0002 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00741 | hp1 | a0006 | c0007 | t0003 | g0012 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG00741 | hp2 | a0002 | c0002 | t0001 | g0002 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01069 | hp2 | a0017 | c0016 | t0002 | g0018 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01071 | hp1 | a0006 | c0007 | t0003 | g0012 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01175 | hp1 | a0013 | c0014 | t0006 | g0013 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01175 | hp2 | a0004 | c0005 | t0002 | g0019 | AMR | PUR | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01261 | hp2 | a0003 | c0003 | t0004 | g0054 | AMR | CLM | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0046 | AMR | CLM | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01346 | hp2 | a0002 | c0002 | t0001 | g0004 | AMR | CLM | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01433 | hp1 | a0002 | c0002 | t0001 | g0035 | AMR | CLM | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01433 | hp2 | a0003 | c0003 | t0004 | g0055 | AMR | CLM | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01993 | hp2 | a0004 | c0005 | t0002 | g0020 | AMR | PEL | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02027 | hp1 | a0002 | c0002 | t0001 | g0032 | EAS | KHV | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02027 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | KHV | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0045 | EAS | KHV | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | KHV | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02132 | hp2 | a0008 | c0008 | t0001 | g0042 | EAS | KHV | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02165 | hp1 | a0002 | c0002 | t0001 | g0006 | EAS | CDX | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | CDX | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02258 | hp1 | a0002 | c0002 | t0001 | g0034 | AFR | ACB | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02293 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02293 | hp2 | a0002 | c0002 | t0001 | g0030 | AMR | PEL | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02970 | hp1 | a0014 | c0012 | t0001 | g0050 | AFR | ESN | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02970 | hp2 | a0007 | c0006 | t0003 | g0011 | AFR | ESN | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG03017 | hp1 | a0002 | c0002 | t0001 | g0002 | SAS | PJL | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG03017 | hp2 | a0003 | c0003 | t0004 | g0008 | SAS | PJL | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG03654 | hp2 | a0016 | c0015 | t0002 | g0024 | SAS | PJL | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0005 | SAS | BEB | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0048 | SAS | BEB | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18522 | hp1 | a0007 | c0006 | t0003 | g0011 | AFR | YRI | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18522 | hp2 | a0002 | c0002 | t0001 | g0027 | AFR | YRI | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | CHB | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18943 | hp2 | a0004 | c0005 | t0002 | g0016 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18970 | hp2 | a0003 | c0003 | t0004 | g0008 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18971 | hp1 | a0005 | c0004 | t0005 | g0017 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18984 | hp1 | a0002 | c0002 | t0001 | g0028 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18998 | hp1 | a0009 | c0009 | t0007 | g0015 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19005 | hp1 | a0002 | c0002 | t0001 | g0031 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19005 | hp2 | a0002 | c0002 | t0001 | g0038 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19011 | hp1 | a0002 | c0002 | t0001 | g0039 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19011 | hp2 | a0005 | c0004 | t0005 | g0026 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19054 | hp1 | a0005 | c0004 | t0005 | g0025 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19054 | hp2 | a0002 | c0002 | t0001 | g0029 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19060 | hp1 | a0002 | c0002 | t0001 | g0010 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19060 | hp2 | a0002 | c0002 | t0001 | g0006 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19077 | hp1 | a0018 | c0018 | t0004 | g0056 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19077 | hp2 | a0010 | c0010 | t0008 | g0014 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19085 | hp1 | a0002 | c0002 | t0001 | g0010 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19085 | hp2 | a0015 | c0017 | t0002 | g0021 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19087 | hp2 | a0005 | c0004 | t0005 | g0023 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19088 | hp1 | a0002 | c0002 | t0001 | g0033 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA20752 | hp2 | a0003 | c0003 | t0004 | g0008 | EUR | TSI | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01123 | hp1 | a0002 | c0002 | t0001 | g0004 | AMR | CLM | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG01123 | hp2 | a0008 | c0008 | t0001 | g0052 | AMR | CLM | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02486 | hp1 | a0007 | c0006 | t0003 | g0036 | AFR | ACB | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0007 | AFR | USA | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| NA20300 | hp2 | a0006 | c0007 | t0003 | g0040 | AFR | USA | PRAMEF6_chr1_12933472_12952580 | PRAMEF6 | chr1 | 12933472 | 12952580 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:12938685
|
C | T | 1 | a0012 | 1 | HG00423.hp1 | missense_variant | MODERATE | c.1421G>A | p.Cys474Tyr | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 1507/1720 | 1421/1431 | 474/476 | chr1 | 12938685 | ||
| chr1:12938736
|
C | T | 3 | a0003a0013a0018 | 7 | HG01175.hp1 HG01261.hp2 HG01433.hp2 others(4): Show |
missense_variant | MODERATE | c.1370G>A | p.Cys457Tyr | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 1456/1720 | 1370/1431 | 457/476 | chr1 | 12938736 | ||
| chr1:12938859
|
G | A | 4 | a0004a0015a0016others(1): Show | 7 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(4): Show |
missense_variant | MODERATE | c.1247C>T | p.Pro416Leu | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 1333/1720 | 1247/1431 | 416/476 | chr1 | 12938859 | ||
| chr1:12938878
|
C | G | 2 | a0003a0018 | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
missense_variant | MODERATE | c.1228G>C | p.Val410Leu | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 1314/1720 | 1228/1431 | 410/476 | chr1 | 12938878 | ||
| chr1:12938934
|
G | C | 1 | a0008 | 2 | HG01123.hp2 HG02132.hp2 |
missense_variant | MODERATE | c.1172C>G | p.Ser391Cys | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 1258/1720 | 1172/1431 | 391/476 | chr1 | 12938934 | ||
| chr1:12938980
|
G | A | 1 | a0018 | 1 | NA19077.hp1 | missense_variant | MODERATE | c.1126C>T | p.Arg376Cys | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 1212/1720 | 1126/1431 | 376/476 | chr1 | 12938980 | ||
| chr1:12939075
|
A | G | 5 | a0004a0005a0015others(2): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
missense_variant | MODERATE | c.1031T>C | p.Leu344Pro | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 1117/1720 | 1031/1431 | 344/476 | chr1 | 12939075 | ||
| chr1:12941032
|
G | T | 2 | a0003a0018 | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
missense_variant | MODERATE | c.821C>A | p.Ser274Tyr | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/4 | 907/1720 | 821/1431 | 274/476 | chr1 | 12941032 | ||
| chr1:12941051
|
A | G | 2 | a0003a0018 | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
missense_variant | MODERATE | c.802T>C | p.Cys268Arg | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/4 | 888/1720 | 802/1431 | 268/476 | chr1 | 12941051 | ||
| chr1:12941356
|
C | T | 6 | a0004a0005a0009others(3): Show | 12 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(9): Show |
missense_variant | MODERATE | c.497G>A | p.Cys166Tyr | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/4 | 583/1720 | 497/1431 | 166/476 | chr1 | 12941356 | ||
| chr1:12941366
|
A | G | 3 | a0003a0006a0018 | 9 | HG00741.hp1 HG01071.hp1 HG01261.hp2 others(6): Show |
missense_variant | MODERATE | c.487T>C | p.Tyr163His | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/4 | 573/1720 | 487/1431 | 163/476 | chr1 | 12941366 | ||
| chr1:12941422
|
T | C | 6 | a0004a0005a0009others(3): Show | 12 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(9): Show |
missense_variant | MODERATE | c.431A>G | p.Gln144Arg | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/4 | 517/1720 | 431/1431 | 144/476 | chr1 | 12941422 | ||
| chr1:12941455
|
G | T | 9 | a0003a0004a0005others(6): Show | 23 | HG00609.hp2 HG00741.hp1 HG01071.hp1 others(20): Show |
missense_variant | MODERATE | c.398C>A | p.Thr133Lys | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/4 | 484/1720 | 398/1431 | 133/476 | chr1 | 12941455 | ||
| chr1:12941488
|
C | T | 6 | a0004a0005a0006others(3): Show | 16 | HG00609.hp2 HG00741.hp1 HG01071.hp1 others(13): Show |
missense_variant | MODERATE | c.365G>A | p.Arg122His | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/4 | 451/1720 | 365/1431 | 122/476 | chr1 | 12941488 | ||
| chr1:12942238
|
T | C | 2 | a0003a0018 | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
missense_variant | MODERATE | c.281A>G | p.His94Arg | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 367/1720 | 281/1431 | 94/476 | chr1 | 12942238 | ||
| chr1:12942290
|
C | T | 1 | a0014 | 1 | HG02970.hp1 | missense_variant | MODERATE | c.229G>A | p.Ala77Thr | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 315/1720 | 229/1431 | 77/476 | chr1 | 12942290 | ||
| chr1:12942335
|
G | A | 1 | a0015 | 1 | NA19085.hp2 | missense_variant | MODERATE | c.184C>T | p.Arg62Cys | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 270/1720 | 184/1431 | 62/476 | chr1 | 12942335 | ||
| chr1:12942398
|
T | G | 7 | a0004a0005a0009others(4): Show | 13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
missense_variant | MODERATE | c.121A>C | p.Met41Leu | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 207/1720 | 121/1431 | 41/476 | chr1 | 12942398 | ||
| chr1:12942472
|
C | T | 6 | a0001a0008a0011others(3): Show | 37 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(34): Show |
missense_variant | MODERATE | c.47G>A | p.Ser16Asn | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 133/1720 | 47/1431 | 16/476 | chr1 | 12942472 | ||
| chr1:12942475
|
C | T | 1 | a0011 | 1 | HG00408.hp2 | missense_variant | MODERATE | c.44G>A | p.Arg15Gln | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 130/1720 | 44/1431 | 15/476 | chr1 | 12942475 | ||
| chr1:12942514
|
C | T | 2 | a0009a0010 | 2 | NA18998.hp1 NA19077.hp2 |
missense_variant | MODERATE | c.5G>A | p.Ser2Asn | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 91/1720 | 5/1431 | 2/476 | chr1 | 12942514 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:12938780
|
C | A | 5 | a0004c0005a0013c0014a0015c0017others(2): Show | 8 | HG00609.hp2 HG01069.hp2 HG01175.hp1 others(5): Show |
synonymous_variant | LOW | c.1326G>T | p.Val442Val | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 1412/1720 | 1326/1431 | 442/476 | chr1 | 12938780 | ||
| chr1:12941403
|
G | A | 1 | a0009c0009 | 1 | NA18998.hp1 | synonymous_variant | LOW | c.450C>T | p.Phe150Phe | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/4 | 536/1720 | 450/1431 | 150/476 | chr1 | 12941403 | ||
| chr1:12942264
|
C | A | 10 | a0003c0003a0004c0005a0005c0004others(7): Show | 22 | HG00609.hp2 HG00741.hp1 HG01069.hp2 others(19): Show |
synonymous_variant | LOW | c.255G>T | p.Leu85Leu | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 341/1720 | 255/1431 | 85/476 | chr1 | 12942264 | ||
| chr1:12942450
|
C | T | 2 | a0003c0003a0018c0018 | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
synonymous_variant | LOW | c.69G>A | p.Leu23Leu | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 155/1720 | 69/1431 | 23/476 | chr1 | 12942450 | ||
| chr1:12942480
|
T | C | 2 | a0003c0003a0018c0018 | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
synonymous_variant | LOW | c.39A>G | p.Ala13Ala | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 125/1720 | 39/1431 | 13/476 | chr1 | 12942480 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:12938512
|
C | G | 2 | a0003c0003t0004a0018c0018t0004 | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*163G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 163 | chr1 | 12938512 | |||||
| chr1:12938513
|
C | A | 2 | a0003c0003t0004a0018c0018t0004 | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*162G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 162 | chr1 | 12938513 | |||||
| chr1:12938521
|
G | A | 2 | a0003c0003t0004a0018c0018t0004 | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*154C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 154 | chr1 | 12938521 | |||||
| chr1:12938540
|
C | T | 9 | a0003c0003t0004a0004c0005t0002a0006c0007t0003others(6): Show | 20 | HG00609.hp2 HG00741.hp1 HG01069.hp2 others(17): Show |
3_prime_UTR_variant | MODIFIER | c.*135G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 135 | chr1 | 12938540 | |||||
| chr1:12938572
|
T | C | 2 | a0003c0003t0004a0018c0018t0004 | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*103A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 103 | chr1 | 12938572 | |||||
| chr1:12938592
|
A | T | 2 | a0003c0003t0004a0018c0018t0004 | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*83T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 4/4 | 83 | chr1 | 12938592 | |||||
| chr1:12942524
|
C | T | 2 | a0003c0003t0004a0018c0018t0004 | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-6G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | chr1 | 12942524 | ||||||
| chr1:12942525
|
G | T | 5 | a0004c0005t0002a0005c0004t0005a0015c0017t0002others(2): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
5_prime_UTR_variant | MODIFIER | c.-7C>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/4 | 7 | chr1 | 12942525 | |||||
| chr1:12947548
|
T | A | 5 | a0004c0005t0002a0005c0004t0005a0015c0017t0002others(2): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
5_prime_UTR_variant | MODIFIER | c.-54A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/4 | 5030 | chr1 | 12947548 | |||||
| chr1:12947564
|
A | G | 7 | a0004c0005t0002a0005c0004t0005a0009c0009t0007others(4): Show | 13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-70T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/4 | chr1 | 12947564 | ||||||
| chr1:12947569
|
G | A | 2 | a0003c0003t0004a0018c0018t0004 | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
5_prime_UTR_variant | MODIFIER | c.-75C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/4 | 5051 | chr1 | 12947569 | |||||
| chr1:12947575
|
C | T | 1 | a0013c0014t0006 | 1 | HG01175.hp1 | 5_prime_UTR_variant | MODIFIER | c.-81G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/4 | 5057 | chr1 | 12947575 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:12939376
|
A | C | 3 | a0003c0003t0004g0008a0003c0003t0004g0054a0018c0018t0004g0056 | 5 | HG01261.hp2 HG03017.hp2 NA18970.hp2 others(2): Show |
intron_variant | MODIFIER | c.870-140T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939376 | ||||||
| chr1:12939397
|
T | C | 18 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(15): Show | 21 | HG00609.hp2 HG00741.hp1 HG01069.hp2 others(18): Show |
intron_variant | MODIFIER | c.870-161A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939397 | ||||||
| chr1:12939426
|
G | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-190C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939426 | ||||||
| chr1:12939427
|
C | G | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-191G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939427 | ||||||
| chr1:12939459
|
C | A | 5 | a0004c0005t0002g0016a0004c0005t0002g0020a0004c0005t0002g0022others(2): Show | 5 | HG00609.hp2 HG01069.hp2 HG01993.hp2 others(2): Show |
intron_variant | MODIFIER | c.870-223G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939459 | ||||||
| chr1:12939535
|
C | T | 1 | a0002c0002t0001g0038 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.870-299G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939535 | ||||||
| chr1:12939536
|
C | G | 1 | a0009c0009t0007g0015 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.870-300G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939536 | ||||||
| chr1:12939637
|
G | A | 1 | a0003c0003t0004g0054 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.870-401C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939637 | ||||||
| chr1:12939706
|
T | TA | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-471dupT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939706 | ||||||
| chr1:12939706
|
TA | T | 15 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(12): Show | 17 | HG00609.hp2 HG00741.hp1 HG01069.hp2 others(14): Show |
intron_variant | MODIFIER | c.870-471delT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939706 | ||||||
| chr1:12939721
|
GA | G | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-486delT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939721 | ||||||
| chr1:12939752
|
C | T | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-516G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939752 | ||||||
| chr1:12939871
|
A | G | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-635T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939871 | ||||||
| chr1:12939886
|
A | G | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-650T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939886 | ||||||
| chr1:12939909
|
C | G | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-673G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939909 | ||||||
| chr1:12939917
|
G | A | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.870-681C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939917 | ||||||
| chr1:12939938
|
A | T | 2 | a0006c0007t0003g0012a0006c0007t0003g0040 | 3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.870-702T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939938 | ||||||
| chr1:12939964
|
T | C | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.870-728A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939964 | ||||||
| chr1:12939986
|
C | G | 3 | a0003c0003t0004g0008a0003c0003t0004g0054a0018c0018t0004g0056 | 5 | HG01261.hp2 HG03017.hp2 NA18970.hp2 others(2): Show |
intron_variant | MODIFIER | c.870-750G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12939986 | ||||||
| chr1:12940021
|
T | G | 1 | a0002c0002t0001g0033 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.870-785A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940021 | ||||||
| chr1:12940068
|
C | G | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-832G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940068 | ||||||
| chr1:12940099
|
G | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.870-863C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940099 | ||||||
| chr1:12940182
|
A | G | 2 | a0006c0007t0003g0012a0006c0007t0003g0040 | 3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.869+802T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940182 | ||||||
| chr1:12940187
|
A | C | 2 | a0007c0006t0003g0011a0007c0006t0003g0036 | 3 | HG02486.hp1 HG02970.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.869+797T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940187 | ||||||
| chr1:12940225
|
G | C | 2 | a0007c0006t0003g0011a0007c0006t0003g0036 | 3 | HG02486.hp1 HG02970.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.869+759C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940225 | ||||||
| chr1:12940409
|
A | T | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+575T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940409 | ||||||
| chr1:12940434
|
T | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+550A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940434 | ||||||
| chr1:12940435
|
T | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+549A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940435 | ||||||
| chr1:12940436
|
G | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+548C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940436 | ||||||
| chr1:12940440
|
C | T | 1 | a0009c0009t0007g0015 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.869+544G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940440 | ||||||
| chr1:12940441
|
G | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+543C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940441 | ||||||
| chr1:12940446
|
G | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+538C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940446 | ||||||
| chr1:12940453
|
C | G | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.869+531G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940453 | ||||||
| chr1:12940453
|
C | T | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+531G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940453 | ||||||
| chr1:12940465
|
G | C | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.869+519C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940465 | ||||||
| chr1:12940487
|
A | C | 1 | a0009c0009t0007g0015 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.869+497T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940487 | ||||||
| chr1:12940504
|
G | A | 3 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055 | 5 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.869+480C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940504 | ||||||
| chr1:12940515
|
T | G | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.869+469A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940515 | ||||||
| chr1:12940636
|
C | T | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+348G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940636 | ||||||
| chr1:12940672
|
A | G | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+312T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940672 | ||||||
| chr1:12940690
|
A | G | 6 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(3): Show | 9 | HG00741.hp1 HG01071.hp1 HG01261.hp2 others(6): Show |
intron_variant | MODIFIER | c.869+294T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940690 | ||||||
| chr1:12940738
|
C | G | 2 | a0006c0007t0003g0012a0006c0007t0003g0040 | 3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.869+246G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940738 | ||||||
| chr1:12940760
|
G | A | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.869+224C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940760 | ||||||
| chr1:12940846
|
A | C | 1 | a0001c0001t0001g0049 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.869+138T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940846 | ||||||
| chr1:12940926
|
C | T | 5 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(2): Show | 7 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(4): Show |
intron_variant | MODIFIER | c.869+58G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940926 | ||||||
| chr1:12940930
|
T | G | 5 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(2): Show | 7 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(4): Show |
intron_variant | MODIFIER | c.869+54A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940930 | ||||||
| chr1:12940942
|
C | T | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+42G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940942 | ||||||
| chr1:12940956
|
G | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+28C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940956 | ||||||
| chr1:12940964
|
A | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.869+20T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 3/3 | chr1 | 12940964 | ||||||
| chr1:12941588
|
A | C | 12 | a0001c0001t0001g0045a0002c0002t0001g0002a0002c0002t0001g0009others(9): Show | 19 | HG00408.hp1 HG00621.hp2 HG00673.hp2 others(16): Show |
intron_variant | MODIFIER | c.288-23T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941588 | ||||||
| chr1:12941633
|
C | G | 44 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(41): Show | 72 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(69): Show |
intron_variant | MODIFIER | c.288-68G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941633 | ||||||
| chr1:12941635
|
T | G | 29 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(26): Show | 55 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(52): Show |
intron_variant | MODIFIER | c.288-70A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941635 | ||||||
| chr1:12941659
|
C | G | 15 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(12): Show | 34 | HG00408.hp2 HG00438.hp2 HG00673.hp1 others(31): Show |
intron_variant | MODIFIER | c.288-94G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941659 | ||||||
| chr1:12941662
|
C | G | 41 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(38): Show | 67 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(64): Show |
intron_variant | MODIFIER | c.288-97G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941662 | ||||||
| chr1:12941760
|
A | G | 19 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(16): Show | 23 | HG00609.hp2 HG00741.hp1 HG01069.hp2 others(20): Show |
intron_variant | MODIFIER | c.288-195T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941760 | ||||||
| chr1:12941769
|
G | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.288-204C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941769 | ||||||
| chr1:12941787
|
G | A | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.288-222C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941787 | ||||||
| chr1:12941876
|
A | T | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.288-311T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941876 | ||||||
| chr1:12941880
|
C | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.288-315G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941880 | ||||||
| chr1:12941892
|
T | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.288-327A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941892 | ||||||
| chr1:12941899
|
T | G | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+333A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941899 | ||||||
| chr1:12941949
|
G | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+283C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12941949 | ||||||
| chr1:12942061
|
A | C | 1 | a0017c0016t0002g0018 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.287+171T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942061 | ||||||
| chr1:12942132
|
C | G | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+100G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942132 | ||||||
| chr1:12942138
|
C | G | 13 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(10): Show | 13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
intron_variant | MODIFIER | c.287+94G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942138 | ||||||
| chr1:12942163
|
G | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+69C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942163 | ||||||
| chr1:12942171
|
A | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+61T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942171 | ||||||
| chr1:12942177
|
C | G | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+55G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942177 | ||||||
| chr1:12942184
|
T | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+48A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942184 | ||||||
| chr1:12942185
|
G | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+47C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942185 | ||||||
| chr1:12942192
|
T | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.287+40A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942192 | ||||||
| chr1:12942203
|
T | C | 3 | a0001c0001t0001g0003a0001c0001t0001g0043a0001c0001t0001g0049 | 7 | HG00609.hp1 HG02132.hp1 HG02165.hp2 others(4): Show |
intron_variant | MODIFIER | c.287+29A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 2/3 | chr1 | 12942203 | ||||||
| chr1:12942560
|
G | A | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-22-20C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942560 | ||||||
| chr1:12942582
|
C | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-42G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942582 | ||||||
| chr1:12942593
|
C | A | 1 | a0003c0003t0004g0054 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-22-53G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942593 | ||||||
| chr1:12942599
|
T | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-59A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942599 | ||||||
| chr1:12942609
|
C | G | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-69G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942609 | ||||||
| chr1:12942611
|
A | G | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-71T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942611 | ||||||
| chr1:12942647
|
C | T | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-22-107G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942647 | ||||||
| chr1:12942669
|
C | T | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-129G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942669 | ||||||
| chr1:12942695
|
C | T | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-22-155G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942695 | ||||||
| chr1:12942757
|
G | T | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-217C>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942757 | ||||||
| chr1:12942773
|
T | G | 1 | a0002c0002t0001g0034 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-22-233A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942773 | ||||||
| chr1:12942830
|
T | TA | 2 | a0006c0007t0003g0012a0006c0007t0003g0040 | 3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-22-291dupT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942830 | ||||||
| chr1:12942884
|
A | G | 17 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(14): Show | 19 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(16): Show |
intron_variant | MODIFIER | c.-22-344T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942884 | ||||||
| chr1:12942914
|
G | A | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-22-374C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942914 | ||||||
| chr1:12942929
|
C | T | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-389G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942929 | ||||||
| chr1:12942962
|
C | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-422G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12942962 | ||||||
| chr1:12943049
|
T | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-509A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943049 | ||||||
| chr1:12943059
|
C | G | 1 | a0002c0002t0001g0027 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.-22-519G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943059 | ||||||
| chr1:12943075
|
C | A | 1 | a0002c0002t0001g0010 | 2 | NA19060.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.-22-535G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943075 | ||||||
| chr1:12943077
|
CTCTT | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-541_-22-538del others(4): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943077 | ||||||
| chr1:12943178
|
A | ACT | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-640_-22-639dup others(2): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943178 | ||||||
| chr1:12943194
|
T | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-654A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943194 | ||||||
| chr1:12943208
|
T | C | 45 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(42): Show | 73 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(70): Show |
intron_variant | MODIFIER | c.-22-668A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943208 | ||||||
| chr1:12943237
|
G | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-697C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943237 | ||||||
| chr1:12943261
|
G | A | 1 | a0004c0005t0002g0022 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.-22-721C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943261 | ||||||
| chr1:12943281
|
TC | T | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-742delG | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943281 | ||||||
| chr1:12943308
|
G | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-768C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943308 | ||||||
| chr1:12943316
|
T | A | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-776A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943316 | ||||||
| chr1:12943424
|
G | C | 18 | a0002c0002t0001g0032a0003c0003t0004g0008a0003c0003t0004g0054others(15): Show | 20 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(17): Show |
intron_variant | MODIFIER | c.-22-884C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943424 | ||||||
| chr1:12943465
|
A | G | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-925T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943465 | ||||||
| chr1:12943470
|
T | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-930A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943470 | ||||||
| chr1:12943579
|
G | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-1039C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943579 | ||||||
| chr1:12943590
|
T | C | 1 | a0002c0002t0001g0028 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.-22-1050A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943590 | ||||||
| chr1:12943639
|
G | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-1099C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943639 | ||||||
| chr1:12943650
|
A | T | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-22-1110T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943650 | ||||||
| chr1:12943676
|
G | A | 2 | a0002c0002t0001g0009a0002c0002t0001g0037 | 3 | HG00408.hp1 HG00621.hp2 HG00673.hp2 |
intron_variant | MODIFIER | c.-22-1136C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943676 | ||||||
| chr1:12943710
|
T | G | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-1170A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943710 | ||||||
| chr1:12943848
|
G | A | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-1308C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943848 | ||||||
| chr1:12943849
|
G | C | 1 | a0014c0012t0001g0050 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-22-1309C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943849 | ||||||
| chr1:12943876
|
CAG | C | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-1338_-22-1337d others(4): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943876 | ||||||
| chr1:12943978
|
T | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-1438A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943978 | ||||||
| chr1:12943993
|
A | T | 1 | a0010c0010t0008g0014 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-22-1453T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12943993 | ||||||
| chr1:12944015
|
C | T | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-1475G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944015 | ||||||
| chr1:12944050
|
G | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22-1510C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944050 | ||||||
| chr1:12944074
|
AAGTCCTG others(2144): Show |
A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+1292_-22-1535d others(2): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944074 | ||||||
| chr1:12944091
|
C | T | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-1551G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944091 | ||||||
| chr1:12944198
|
G | A | 13 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(10): Show | 13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
intron_variant | MODIFIER | c.-22-1658C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944198 | ||||||
| chr1:12944215
|
G | A | 17 | a0001c0001t0001g0053a0004c0005t0002g0016a0004c0005t0002g0019others(14): Show | 18 | HG00423.hp1 HG00438.hp1 HG00609.hp2 others(15): Show |
intron_variant | MODIFIER | c.-22-1675C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944215 | ||||||
| chr1:12944354
|
T | A | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-1814A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944354 | ||||||
| chr1:12944368
|
G | A | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-1828C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944368 | ||||||
| chr1:12944443
|
T | C | 13 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(10): Show | 13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
intron_variant | MODIFIER | c.-22-1903A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944443 | ||||||
| chr1:12944473
|
G | A | 1 | a0004c0005t0002g0016 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.-22-1933C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944473 | ||||||
| chr1:12944499
|
A | G | 2 | a0006c0007t0003g0012a0006c0007t0003g0040 | 3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-22-1959T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944499 | ||||||
| chr1:12944565
|
G | A | 1 | a0010c0010t0008g0014 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-22-2025C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944565 | ||||||
| chr1:12944614
|
T | G | 1 | a0013c0014t0006g0013 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-22-2074A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944614 | ||||||
| chr1:12944638
|
A | C | 2 | a0006c0007t0003g0012a0006c0007t0003g0040 | 3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-22-2098T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944638 | ||||||
| chr1:12944649
|
G | A | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-2109C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944649 | ||||||
| chr1:12944685
|
AT | A | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-2146delA | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944685 | ||||||
| chr1:12944688
|
T | A | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-22-2148A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944688 | ||||||
| chr1:12944749
|
A | G | 4 | a0002c0002t0001g0004a0002c0002t0001g0030a0009c0009t0007g0015others(1): Show | 7 | HG00423.hp2 HG00735.hp1 HG01123.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22-2209T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944749 | ||||||
| chr1:12944757
|
G | A | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-2217C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944757 | ||||||
| chr1:12944845
|
C | G | 2 | a0006c0007t0003g0012a0006c0007t0003g0040 | 3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-22-2305G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944845 | ||||||
| chr1:12944923
|
G | A | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-22-2383C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12944923 | ||||||
| chr1:12945043
|
C | T | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-23+2474G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945043 | ||||||
| chr1:12945137
|
A | T | 2 | a0005c0004t0005g0017a0005c0004t0005g0026 | 2 | NA18971.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.-23+2380T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945137 | ||||||
| chr1:12945138
|
G | T | 2 | a0005c0004t0005g0017a0005c0004t0005g0026 | 2 | NA18971.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.-23+2379C>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945138 | ||||||
| chr1:12945250
|
G | A | 1 | a0001c0001t0001g0048 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-23+2267C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945250 | ||||||
| chr1:12945283
|
T | C | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-23+2234A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945283 | ||||||
| chr1:12945384
|
T | A | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-23+2133A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945384 | ||||||
| chr1:12945411
|
T | C | 13 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(10): Show | 13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
intron_variant | MODIFIER | c.-23+2106A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945411 | ||||||
| chr1:12945507
|
T | A | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-23+2010A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945507 | ||||||
| chr1:12945510
|
G | A | 1 | a0010c0010t0008g0014 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-23+2007C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945510 | ||||||
| chr1:12945510
|
G | T | 16 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(13): Show | 18 | HG00609.hp2 HG00741.hp1 HG01069.hp2 others(15): Show |
intron_variant | MODIFIER | c.-23+2007C>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945510 | ||||||
| chr1:12945579
|
T | C | 1 | a0007c0006t0003g0036 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-23+1938A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945579 | ||||||
| chr1:12945653
|
A | C | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-23+1864T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945653 | ||||||
| chr1:12945696
|
A | T | 1 | a0002c0002t0001g0029 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.-23+1821T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945696 | ||||||
| chr1:12945758
|
T | A | 13 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(10): Show | 13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
intron_variant | MODIFIER | c.-23+1759A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945758 | ||||||
| chr1:12945825
|
T | C | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-23+1692A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945825 | ||||||
| chr1:12945843
|
C | T | 2 | a0006c0007t0003g0012a0006c0007t0003g0040 | 3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-23+1674G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945843 | ||||||
| chr1:12945860
|
T | C | 41 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(38): Show | 67 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(64): Show |
intron_variant | MODIFIER | c.-23+1657A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945860 | ||||||
| chr1:12945980
|
C | CAAAAA | 4 | a0005c0004t0005g0023a0005c0004t0005g0025a0005c0004t0005g0026others(1): Show | 4 | HG03654.hp2 NA19011.hp2 NA19054.hp1 others(1): Show |
intron_variant | MODIFIER | c.-23+1532_-23+1536d others(7): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945980 | ||||||
| chr1:12945980
|
CA | C | 5 | a0002c0002t0001g0029a0002c0002t0001g0030a0002c0002t0001g0031others(2): Show | 5 | HG02027.hp1 HG02293.hp2 NA19005.hp1 others(2): Show |
intron_variant | MODIFIER | c.-23+1536delT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945980 | ||||||
| chr1:12945980
|
CAAA | C | 6 | a0001c0001t0001g0007a0001c0001t0001g0041a0001c0001t0001g0049others(3): Show | 8 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(5): Show |
intron_variant | MODIFIER | c.-23+1534_-23+1536d others(5): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945980 | ||||||
| chr1:12945980
|
CAAAA | C | 16 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0045others(13): Show | 36 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(33): Show |
intron_variant | MODIFIER | c.-23+1533_-23+1536d others(6): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945980 | ||||||
| chr1:12945980
|
CAAAAA | C | 3 | a0001c0001t0001g0005a0001c0001t0001g0043a0008c0008t0001g0042 | 6 | HG01993.hp1 HG02132.hp1 HG02132.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+1532_-23+1536d others(7): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945980 | ||||||
| chr1:12945980
|
CAAAAAAA others(12): Show |
C | 1 | a0010c0010t0008g0014 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-23+1518_-23+1536d others(21): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12945980 | ||||||
| chr1:12946193
|
CAAA | C | 13 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(10): Show | 13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
intron_variant | MODIFIER | c.-23+1321_-23+1323d others(5): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946193 | ||||||
| chr1:12946208
|
T | G | 13 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(10): Show | 13 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(10): Show |
intron_variant | MODIFIER | c.-23+1309A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946208 | ||||||
| chr1:12946283
|
A | AAG | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+1233_-23+1234i others(4): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946283 | ||||||
| chr1:12946316
|
C | T | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+1201G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946316 | ||||||
| chr1:12946362
|
C | T | 1 | a0010c0010t0008g0014 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-23+1155G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946362 | ||||||
| chr1:12946363
|
A | C | 1 | a0010c0010t0008g0014 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-23+1154T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946363 | ||||||
| chr1:12946456
|
G | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+1061C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946456 | ||||||
| chr1:12946592
|
C | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+925G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946592 | ||||||
| chr1:12946613
|
T | C | 2 | a0006c0007t0003g0012a0006c0007t0003g0040 | 3 | HG00741.hp1 HG01071.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-23+904A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946613 | ||||||
| chr1:12946674
|
T | G | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+843A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946674 | ||||||
| chr1:12946679
|
A | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+838T>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946679 | ||||||
| chr1:12946699
|
T | A | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-23+818A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946699 | ||||||
| chr1:12946777
|
G | A | 1 | a0001c0001t0001g0051 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.-23+740C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946777 | ||||||
| chr1:12946779
|
G | T | 1 | a0001c0001t0001g0041 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.-23+738C>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946779 | ||||||
| chr1:12946815
|
C | G | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+702G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946815 | ||||||
| chr1:12946819
|
G | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+698C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946819 | ||||||
| chr1:12946834
|
T | A | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-23+683A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946834 | ||||||
| chr1:12946835
|
C | A | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-23+682G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946835 | ||||||
| chr1:12946852
|
T | TA | 2 | a0004c0005t0002g0016a0005c0004t0005g0025 | 2 | NA18943.hp2 NA19054.hp1 |
intron_variant | MODIFIER | c.-23+664dupT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946852 | ||||||
| chr1:12946853
|
A | T | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+664T>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946853 | ||||||
| chr1:12946856
|
AT | A | 2 | a0010c0010t0008g0014a0018c0018t0004g0056 | 2 | NA19077.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-23+660delA | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946856 | ||||||
| chr1:12946857
|
T | A | 15 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(12): Show | 17 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(14): Show |
intron_variant | MODIFIER | c.-23+660A>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946857 | ||||||
| chr1:12946889
|
C | T | 1 | a0004c0005t0002g0016 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.-23+628G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946889 | ||||||
| chr1:12946943
|
C | G | 1 | a0003c0003t0004g0054 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-23+574G>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946943 | ||||||
| chr1:12946952
|
G | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+565C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12946952 | ||||||
| chr1:12947055
|
G | C | 1 | a0002c0002t0001g0035 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.-23+462C>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947055 | ||||||
| chr1:12947068
|
G | A | 4 | a0006c0007t0003g0012a0006c0007t0003g0040a0007c0006t0003g0011others(1): Show | 6 | HG00741.hp1 HG01071.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.-23+449C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947068 | ||||||
| chr1:12947083
|
G | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+434C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947083 | ||||||
| chr1:12947104
|
T | G | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+413A>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947104 | ||||||
| chr1:12947164
|
C | CA | 7 | a0002c0002t0001g0037a0002c0002t0001g0038a0002c0002t0001g0039others(4): Show | 7 | HG00621.hp2 HG01123.hp2 NA19005.hp2 others(4): Show |
intron_variant | MODIFIER | c.-23+352dupT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947164 | ||||||
| chr1:12947195
|
C | T | 11 | a0004c0005t0002g0016a0004c0005t0002g0019a0004c0005t0002g0020others(8): Show | 11 | HG00609.hp2 HG01069.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-23+322G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947195 | ||||||
| chr1:12947209
|
C | T | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+308G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947209 | ||||||
| chr1:12947281
|
A | G | 2 | a0009c0009t0007g0015a0010c0010t0008g0014 | 2 | NA18998.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.-23+236T>C | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947281 | ||||||
| chr1:12947303
|
C | A | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+214G>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947303 | ||||||
| chr1:12947382
|
C | CA | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+134dupT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947382 | ||||||
| chr1:12947403
|
G | GA | 5 | a0001c0001t0001g0053a0003c0003t0004g0008a0003c0003t0004g0054others(2): Show | 7 | HG00438.hp1 HG01261.hp2 HG01433.hp2 others(4): Show |
intron_variant | MODIFIER | c.-23+113dupT | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947403 | ||||||
| chr1:12947447
|
C | T | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+70G>A | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947447 | ||||||
| chr1:12947458
|
T | C | 4 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-23+59A>G | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947458 | ||||||
| chr1:12947511
|
G | A | 33 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(30): Show | 54 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(51): Show |
splice_region_variant&intron_variant | LOW | c.-23+6C>T | PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | 12947511 |