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 | 11 | 126139100 | T | C | ENST00000263578 | ENSG00000110074 | 126138950 | 126148026 | ENSP00000263578 | FOXRED1 | 1 | FXRD1_HUMAN | - | - | 5'_UTR | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | het | 364 |
2 | 11 | 126139100 | T | C | ENST00000263578 | ENSG00000110074 | 126138950 | 126148026 | ENSP00000263578 | FOXRED1 | 1 | FXRD1_HUMAN | - | - | 5'_UTR | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | hom | 596 |
3 | 11 | 126139100 | T | C | ENST00000442061 | ENSG00000110074 | 126138950 | 126148026 | ENSP00000404371 | FOXRED1 | 1 | - | - | - | 5'_UTR | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | het | 364 |
4 | 11 | 126139100 | T | C | ENST00000442061 | ENSG00000110074 | 126138950 | 126148026 | ENSP00000404371 | FOXRED1 | 1 | - | - | - | 5'_UTR | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | hom | 596 |
5 | 11 | 126139100 | T | C | ENST00000524751 | ENSG00000110074 | 126138950 | 126148026 | - | FOXRED1 | 1 | - | c.12T>C | p.G4G | syn | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | het | 364 |
6 | 11 | 126139100 | T | C | ENST00000524751 | ENSG00000110074 | 126138950 | 126148026 | - | FOXRED1 | 1 | - | c.12T>C | p.G4G | syn | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | hom | 596 |
7 | 11 | 126139100 | T | C | ENST00000525083 | ENSG00000110074 | 126138950 | 126148026 | - | FOXRED1 | 1 | - | c.35T>C | p.V12A | non-syn | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | het | 364 |
8 | 11 | 126139100 | T | C | ENST00000525083 | ENSG00000110074 | 126138950 | 126148026 | - | FOXRED1 | 1 | - | c.35T>C | p.V12A | non-syn | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | hom | 596 |
9 | 11 | 126139100 | T | C | ENST00000525770 | ENSG00000110074 | 126138950 | 126148026 | ENSP00000434739 | FOXRED1 | 1 | - | - | - | 5'_UTR | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | het | 364 |
10 | 11 | 126139100 | T | C | ENST00000525770 | ENSG00000110074 | 126138950 | 126148026 | ENSP00000434739 | FOXRED1 | 1 | - | - | - | 5'_UTR | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | hom | 596 |
11 | 11 | 126139100 | T | C | ENST00000526366 | ENSG00000110074 | 126138950 | 126148026 | - | FOXRED1 | 1 | - | c.14T>C | p.V5A | non-syn | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | het | 364 |
12 | 11 | 126139100 | T | C | ENST00000526366 | ENSG00000110074 | 126138950 | 126148026 | - | FOXRED1 | 1 | - | c.14T>C | p.V5A | non-syn | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | hom | 596 |
13 | 11 | 126139100 | T | C | ENST00000526525 | ENSG00000110074 | 126138950 | 126148026 | - | FOXRED1 | 1 | - | c.35T>C | p.V12A | non-syn | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | het | 364 |
14 | 11 | 126139100 | T | C | ENST00000526525 | ENSG00000110074 | 126138950 | 126148026 | - | FOXRED1 | 1 | - | c.35T>C | p.V12A | non-syn | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | hom | 596 |
15 | 11 | 126139100 | T | C | ENST00000527004 | ENSG00000110074 | 126138950 | 126148026 | ENSP00000436374 | FOXRED1 | 1 | - | - | - | 5'_UTR | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | het | 364 |
16 | 11 | 126139100 | T | C | ENST00000527004 | ENSG00000110074 | 126138950 | 126148026 | ENSP00000436374 | FOXRED1 | 1 | - | - | - | 5'_UTR | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | hom | 596 |
17 | 11 | 126139100 | T | C | ENST00000529802 | ENSG00000110074 | 126138950 | 126148026 | - | FOXRED1 | 1 | - | c.49T>C | p.L17L | syn | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | het | 364 |
18 | 11 | 126139100 | T | C | ENST00000529802 | ENSG00000110074 | 126138950 | 126148026 | - | FOXRED1 | 1 | - | c.49T>C | p.L17L | syn | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | hom | 596 |
19 | 11 | 126139100 | T | C | ENST00000532101 | ENSG00000110074 | 126138950 | 126148026 | - | FOXRED1 | 1 | - | c.5T>C | p.V2A | non-syn | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | het | 364 |
20 | 11 | 126139100 | T | C | ENST00000532101 | ENSG00000110074 | 126138950 | 126148026 | - | FOXRED1 | 1 | - | c.5T>C | p.V2A | non-syn | rs1786702 | 0.926 | C=6532/T=2064;C=2500/T=1902;C=9032/T=3966 | - | - | - | - | hom | 596 |