No. | Chr | Position | Reference | Variant | EnsemblTranscriptID | EnsemblGeneID | Gene_Start | Gene_End | EnsemblProteinID | Gene | strand | Uniprot | cChange | pChange | Nature | dbSNP | Freq | EVS | phastCons | SIFT | Polyphen | HGMD | type | samples |
---|
1 | 12 | 50506690 | C | -GTTAT | ENST00000317943 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000326052 | COX14 | 1 | COX14_HUMAN | - | - | +4bp 5'_splice_site | rs140120323 | - | - | - | - | - | - | het | 1 |
2 | 12 | 50506690 | C | -GTTAT | ENST00000317943 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000326052 | COX14 | 1 | COX14_HUMAN | - | - | +4bp 5'_splice_site | rs140120323 | - | - | - | - | - | - | hom | 2 |
3 | 12 | 50512279 | C | T | ENST00000550654 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000450331 | COX14 | 1 | COX14_HUMAN | - | - | 5'_UTR | rs55639096 | 0.5643 | - | - | - | - | - | hom | 2 |
4 | 12 | 50512279 | C | T | ENST00000550654 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000450331 | COX14 | 1 | COX14_HUMAN | - | - | 5'_UTR | rs55639096 | 0.5643 | - | - | - | - | - | het | 3 |
5 | 12 | 50512293 | G | A | ENST00000550654 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000450331 | COX14 | 1 | COX14_HUMAN | - | - | 5'_UTR | rs12229758 | 0.5623 | - | - | - | - | - | het | 4 |
6 | 12 | 50512293 | G | A | ENST00000550654 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000450331 | COX14 | 1 | COX14_HUMAN | - | - | 5'_UTR | rs12229758 | 0.5623 | - | - | - | - | - | hom | 2 |
7 | 12 | 50513900 | A | G | ENST00000317943 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000326052 | COX14 | 1 | COX14_HUMAN | c.74A>G | p.Y25C | non-syn | rs143095605 | - | G=2/A=8598;G=0/A=4406;G=2/A=13004 | lod=65:415 | DAMAGING | D | - | het | 3 |
8 | 12 | 50513900 | A | G | ENST00000548985 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000447776 | COX14 | 1 | COX14_HUMAN | c.74A>G | p.Y25C | non-syn | rs143095605 | - | G=2/A=8598;G=0/A=4406;G=2/A=13004 | lod=65:415 | DAMAGING | D | - | het | 3 |
9 | 12 | 50513900 | A | G | ENST00000550487 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000446524 | COX14 | 1 | COX14_HUMAN | c.74A>G | p.Y25C | non-syn | rs143095605 | - | G=2/A=8598;G=0/A=4406;G=2/A=13004 | lod=65:415 | DAMAGING | D | - | het | 3 |
10 | 12 | 50513900 | A | G | ENST00000550654 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000450331 | COX14 | 1 | COX14_HUMAN | c.74A>G | p.Y25C | non-syn | rs143095605 | - | G=2/A=8598;G=0/A=4406;G=2/A=13004 | lod=65:415 | DAMAGING | D | - | het | 3 |
11 | 12 | 50513947 | C | T | ENST00000317943 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000326052 | COX14 | 1 | COX14_HUMAN | c.121C>T | p.R41C | non-syn | rs148220171 | - | T=0/C=8600;T=2/C=4404;T=2/C=13004 | lod=13:243 | DAMAGING | D | - | het | 1 |
12 | 12 | 50513947 | C | T | ENST00000548985 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000447776 | COX14 | 1 | COX14_HUMAN | c.121C>T | p.R41C | non-syn | rs148220171 | - | T=0/C=8600;T=2/C=4404;T=2/C=13004 | lod=13:243 | DAMAGING | D | - | het | 1 |
13 | 12 | 50513947 | C | T | ENST00000550487 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000446524 | COX14 | 1 | COX14_HUMAN | c.121C>T | p.R41C | non-syn | rs148220171 | - | T=0/C=8600;T=2/C=4404;T=2/C=13004 | lod=13:243 | DAMAGING | D | - | het | 1 |
14 | 12 | 50513947 | C | T | ENST00000550654 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000450331 | COX14 | 1 | COX14_HUMAN | c.121C>T | p.R41C | non-syn | rs148220171 | - | T=0/C=8600;T=2/C=4404;T=2/C=13004 | lod=13:243 | DAMAGING | D | - | het | 1 |
15 | 12 | 50513976 | A | G | ENST00000317943 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000326052 | COX14 | 1 | COX14_HUMAN | c.150A>G | p.E50E | syn | NA | - | G=1/A=8599;G=0/A=4406;G=1/A=13005 | lod=49:385 | - | - | - | het | 1 |
16 | 12 | 50513976 | A | G | ENST00000548985 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000447776 | COX14 | 1 | COX14_HUMAN | c.150A>G | p.E50E | syn | NA | - | G=1/A=8599;G=0/A=4406;G=1/A=13005 | lod=49:385 | - | - | - | het | 1 |
17 | 12 | 50513976 | A | G | ENST00000550487 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000446524 | COX14 | 1 | COX14_HUMAN | c.150A>G | p.E50E | syn | NA | - | G=1/A=8599;G=0/A=4406;G=1/A=13005 | lod=49:385 | - | - | - | het | 1 |
18 | 12 | 50513976 | A | G | ENST00000550654 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000450331 | COX14 | 1 | COX14_HUMAN | c.150A>G | p.E50E | syn | NA | - | G=1/A=8599;G=0/A=4406;G=1/A=13005 | lod=49:385 | - | - | - | het | 1 |
19 | 12 | 50514059 | A | C | ENST00000317943 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000326052 | COX14 | 1 | COX14_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 7 |
20 | 12 | 50514059 | A | C | ENST00000317943 | ENSG00000178449 | 50505762 | 50514240 | ENSP00000326052 | COX14 | 1 | COX14_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | hom | 1 |