| Gene ID | 3106 |
| Symbol | HLA-B |
| Synonymous | AS|HLAB|SPDA1 |
| Full name | major histocompatibility complex, class I, B |
| Gene description | HLA class I histocompatibility antigen, B alpha chain|MHC Class I HLA heavy chain|MHC HLA-B cell surface glycoprotein|MHC HLA-B transmembrane glycoprotein|MHC class I antigen GN00104|MHC class I antigen HLA-B heavy chain|MHC class I antigen SHCHA|leukocyt |
| Cytoband | 6p21.3 |
| Gene type | protein-coding |
| Synonymous | MIM:142830; HGNC:HGNC:4932; Ensembl:ENSG00000234745; HPRD:00828; Vega:OTTHUMG00000031153 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.618T>G; p.A206A; 6:31356168-31356168 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.618T>G; p.A206A; 6:31356168-31356168 |
thyroid | other; neoplasm | Substitution - coding silent |
c.618T>G; p.A206A; 6:31356168-31356168 |
thyroid | other; neoplasm | Substitution - coding silent |
c.618T>G; p.A206A; 6:31356168-31356168 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.363C>G; p.S121R; 6:31356423-31356423 |
thyroid | other; neoplasm | Substitution - Missense |
c.272A>C; p.Y91S; 6:31356759-31356759 |
thyroid | other; neoplasm | Substitution - Missense |
c.272A>C; p.Y91S; 6:31356759-31356759 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.272A>C; p.Y91S; 6:31356759-31356759 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.272A>C; p.Y91S; 6:31356759-31356759 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.272A>C; p.Y91S; 6:31356759-31356759 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.272A>C; p.Y91S; 6:31356759-31356759 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.272A>C; p.Y91S; 6:31356759-31356759 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.252G>A; p.W84*; 6:31356779-31356779 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.272A>C; p.Y91S; 6:31356759-31356759 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.272A>C; p.Y91S; 6:31356759-31356759 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.261C>G; p.N87K; 6:31356770-31356770 |
thyroid | other; neoplasm | Substitution - Missense |
c.261C>G; p.N87K; 6:31356770-31356770 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.635_636delAC; p.H212fs*8; 6:31355576-31355577 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.756T>C; p.T252T; 6:31355456-31355456 |
thyroid | other; neoplasm | Substitution - coding silent |
c.48C>A; p.A16A; 6:31357111-31357111 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.603C>G; p.D201E; 6:31356183-31356183 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.603C>G; p.D201E; 6:31356183-31356183 |
thyroid | other; neoplasm | Substitution - Missense |
c.603C>G; p.D201E; 6:31356183-31356183 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.603C>G; p.D201E; 6:31356183-31356183 |
thyroid | other; neoplasm | Substitution - Missense |
c.603C>G; p.D201E; 6:31356183-31356183 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.486G>C; p.T162T; 6:31356300-31356300 |
thyroid | other; neoplasm | Substitution - coding silent |
c.486G>C; p.T162T; 6:31356300-31356300 |
thyroid | other; neoplasm | Substitution - coding silent |
c.486G>C; p.T162T; 6:31356300-31356300 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.256C>G; p.R86G; 6:31356775-31356775 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.739G>A; p.D247N; 6:31355473-31355473 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.933_934insT; p.V312fs*22; 6:31355185-31355186 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.797A>G; p.Q266R; 6:31355415-31355415 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.356T>G; p.L119R; 6:31356430-31356430 |
thyroid | other; neoplasm | Substitution - Missense |
c.356T>G; p.L119R; 6:31356430-31356430 |
thyroid | other; neoplasm | Substitution - Missense |
c.893_894GG>AA; p.W298*; 6:31355318-31355319 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.278C>G; p.A93G; 6:31356753-31356753 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.278C>G; p.A93G; 6:31356753-31356753 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.49C>G; p.L17V; 6:31357110-31357110 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.97T>G; p.Y33D; 6:31356934-31356934 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.97T>G; p.Y33D; 6:31356934-31356934 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.97T>G; p.Y33D; 6:31356934-31356934 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1043C>T; p.A348V; 6:31354635-31354635 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.97T>G; p.Y33D; 6:31356934-31356934 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.105C>T; p.S35S; 6:31356926-31356926 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.97T>G; p.Y33D; 6:31356934-31356934 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.424T>C; p.Y142H; 6:31356362-31356362 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.538_539delCG; p.R180fs*27; 6:31356247-31356248 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.559G>C; p.E187Q; 6:31356227-31356227 |
thyroid | other; neoplasm | Substitution - Missense |
c.559G>C; p.E187Q; 6:31356227-31356227 |
thyroid | other; neoplasm | Substitution - Missense |
c.559G>C; p.E187Q; 6:31356227-31356227 |
thyroid | other; neoplasm | Substitution - Missense |
c.559G>C; p.E187Q; 6:31356227-31356227 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.559G>C; p.E187Q; 6:31356227-31356227 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
thyroid | other; neoplasm | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
thyroid | other; neoplasm | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11T>C; p.M4T; 6:31357148-31357148 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.757G>A; p.E253K; 6:31355455-31355455 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.319G>C; p.G107R; 6:31356712-31356712 |
thyroid | other; neoplasm | Substitution - Missense |
c.319G>C; p.G107R; 6:31356712-31356712 |
thyroid | other; neoplasm | Substitution - Missense |
c.895+1G>T; p.?; 6:31355316-31355316 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.873G>A; p.P291P; 6:31355339-31355339 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.649C>T; p.P217S; 6:31355563-31355563 |
skin | malignant_melanoma | Substitution - Missense |
c.206A>T; p.E69V; 6:31356825-31356825 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.206A>T; p.E69V; 6:31356825-31356825 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722G>A; p.W241*; 6:31355490-31355490 |
pancreas | carcinoma | Substitution - Nonsense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.265_266delCA; p.Q89fs*9; 6:31356765-31356766 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.167A>T; p.Q56L; 6:31356864-31356864 |
thyroid | other; neoplasm | Substitution - Missense |
c.735C>G; p.G245G; 6:31355477-31355477 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
thyroid | other; neoplasm | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527A>T; p.E176V; 6:31356259-31356259 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.206A>C; p.E69A; 6:31356825-31356825 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.206A>C; p.E69A; 6:31356825-31356825 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.206A>C; p.E69A; 6:31356825-31356825 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.206A>C; p.E69A; 6:31356825-31356825 |
thyroid | other; neoplasm | Substitution - Missense |
c.206A>C; p.E69A; 6:31356825-31356825 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.206A>C; p.E69A; 6:31356825-31356825 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.206A>C; p.E69A; 6:31356825-31356825 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.206A>C; p.E69A; 6:31356825-31356825 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.700C>G; p.P234A; 6:31355512-31355512 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.206A>C; p.E69A; 6:31356825-31356825 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.206A>C; p.E69A; 6:31356825-31356825 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.206A>C; p.E69A; 6:31356825-31356825 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.206A>C; p.E69A; 6:31356825-31356825 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5T>G; p.L2R; 6:31357154-31357154 |
thyroid | other; neoplasm | Substitution - Missense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5T>G; p.L2R; 6:31357154-31357154 |
thyroid | other; neoplasm | Substitution - Missense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.420C>A; p.Y140*; 6:31356366-31356366 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.420C>A; p.Y140*; 6:31356366-31356366 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.420C>A; p.Y140*; 6:31356366-31356366 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.420C>A; p.Y140*; 6:31356366-31356366 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5T>G; p.L2R; 6:31357154-31357154 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.773G>A; p.R258K; 6:31355439-31355439 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.204A>G; p.R68R; 6:31356827-31356827 |
thyroid | other; neoplasm | Substitution - coding silent |
c.204A>G; p.R68R; 6:31356827-31356827 |
thyroid | other; neoplasm | Substitution - coding silent |
c.654C>T; p.I218I; 6:31355558-31355558 |
thyroid | carcinoma | Substitution - coding silent |
c.907C>T; p.Q303*; 6:31355212-31355212 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.736G>A; p.E246K; 6:31355476-31355476 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.343+1G>A; p.?; 6:31356687-31356687 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.907C>T; p.Q303*; 6:31355212-31355212 |
skin | malignant_melanoma | Substitution - Nonsense |
c.343+1G>A; p.?; 6:31356687-31356687 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.320_321insCC; p.Y108fs*44; 6:31356710-31356711 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.418T>G; p.Y140D; 6:31356368-31356368 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.280C>A; p.Q94K; 6:31356751-31356751 |
thyroid | other; neoplasm | Substitution - Missense |
c.206_207insC; p.E69fs*30; 6:31356824-31356825 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.206_207insC; p.E69fs*30; 6:31356824-31356825 |
breast | carcinoma | Insertion - Frameshift |
c.206_207insC; p.E69fs*30; 6:31356824-31356825 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.206_207insC; p.E69fs*30; 6:31356824-31356825 |
breast | carcinoma | Insertion - Frameshift |
c.280C>A; p.Q94K; 6:31356751-31356751 |
thyroid | other; neoplasm | Substitution - Missense |
c.206_207insC; p.E69fs*30; 6:31356824-31356825 |
breast | carcinoma | Insertion - Frameshift |
c.1047C>G; p.C349W; 6:31354525-31354525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1047C>G; p.C349W; 6:31354525-31354525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
thyroid | other; neoplasm | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1047C>G; p.C349W; 6:31354525-31354525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1047C>G; p.C349W; 6:31354525-31354525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1047C>G; p.C349W; 6:31354525-31354525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1047C>G; p.C349W; 6:31354525-31354525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1047C>G; p.C349W; 6:31354525-31354525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1047C>G; p.C349W; 6:31354525-31354525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
thyroid | other; neoplasm | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1047C>G; p.C349W; 6:31354525-31354525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1047C>G; p.C349W; 6:31354525-31354525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1047C>G; p.C349W; 6:31354525-31354525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463C>A; p.R155S; 6:31356323-31356323 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.283G>A; p.A95T; 6:31356748-31356748 |
thyroid | other; neoplasm | Substitution - Missense |
c.842A>G; p.Y281C; 6:31355370-31355370 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.19C>T; p.R7*; 6:31357140-31357140 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.283G>A; p.A95T; 6:31356748-31356748 |
thyroid | other; neoplasm | Substitution - Missense |
c.283G>A; p.A95T; 6:31356748-31356748 |
thyroid | other; neoplasm | Substitution - Missense |
c.311delA; p.N104fs*47; 6:31356720-31356720 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.19C>T; p.R7*; 6:31357140-31357140 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.539G>T; p.R180L; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.539G>T; p.R180L; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.539G>T; p.R180L; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.911C>G; p.S304C; 6:31355208-31355208 |
breast | carcinoma | Substitution - Missense |
c.1012G>A; p.G338S; 6:31355107-31355107 |
skin | malignant_melanoma | Substitution - Missense |
c.539G>T; p.R180L; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.539G>T; p.R180L; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.539G>T; p.R180L; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.539G>T; p.R180L; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.539G>T; p.R180L; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.539G>T; p.R180L; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.539G>T; p.R180L; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.539G>T; p.R180L; 6:31356247-31356247 |
thyroid | other; neoplasm | Substitution - Missense |
c.539G>T; p.R180L; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.149G>A; p.G50D; 6:31356882-31356882 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.539G>T; p.R180L; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.539G>T; p.R180L; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.144A>C; p.S48S; 6:31356887-31356887 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.539G>T; p.R180L; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.539G>T; p.R180L; 6:31356247-31356247 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.272A>T; p.Y91F; 6:31356759-31356759 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.693T>C; p.G231G; 6:31355519-31355519 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.272A>T; p.Y91F; 6:31356759-31356759 |
thyroid | other; neoplasm | Substitution - Missense |
c.880C>T; p.L294F; 6:31355332-31355332 |
thyroid | other; neoplasm | Substitution - Missense |
c.355C>T; p.L119F; 6:31356431-31356431 |
thyroid | other; neoplasm | Substitution - Missense |
c.861T>C; p.H287H; 6:31355351-31355351 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.355C>T; p.L119F; 6:31356431-31356431 |
thyroid | other; neoplasm | Substitution - Missense |
c.861T>C; p.H287H; 6:31355351-31355351 |
thyroid | other; neoplasm | Substitution - coding silent |
c.861T>C; p.H287H; 6:31355351-31355351 |
thyroid | other; neoplasm | Substitution - coding silent |
c.240delG; p.P81fs*70; 6:31356791-31356791 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.981C>T; p.V327V; 6:31355138-31355138 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.771C>G; p.T257T; 6:31355441-31355441 |
skin | malignant_melanoma | Substitution - coding silent |
c.453C>T; p.N151N; 6:31356333-31356333 |
thyroid | other; neoplasm | Substitution - coding silent |
c.354C>T; p.T118T; 6:31356432-31356432 |
thyroid | other; neoplasm | Substitution - coding silent |
c.354C>T; p.T118T; 6:31356432-31356432 |
thyroid | other; neoplasm | Substitution - coding silent |
c.986C>T; p.A329V; 6:31355133-31355133 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.986C>T; p.A329V; 6:31355133-31355133 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.848G>A; p.C283Y; 6:31355364-31355364 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.986C>T; p.A329V; 6:31355133-31355133 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.319G>T; p.G107C; 6:31356712-31356712 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.38T>C; p.L13P; 6:31357121-31357121 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.986C>T; p.A329V; 6:31355133-31355133 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.874A>G; p.K292E; 6:31355338-31355338 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874A>G; p.K292E; 6:31355338-31355338 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874A>G; p.K292E; 6:31355338-31355338 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874A>G; p.K292E; 6:31355338-31355338 |
thyroid | other; neoplasm | Substitution - Missense |
c.874A>G; p.K292E; 6:31355338-31355338 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874A>G; p.K292E; 6:31355338-31355338 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874A>G; p.K292E; 6:31355338-31355338 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874A>G; p.K292E; 6:31355338-31355338 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874A>G; p.K292E; 6:31355338-31355338 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874A>G; p.K292E; 6:31355338-31355338 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874A>G; p.K292E; 6:31355338-31355338 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874A>G; p.K292E; 6:31355338-31355338 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.15G>A; p.A5A; 6:31357144-31357144 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.874A>G; p.K292E; 6:31355338-31355338 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874A>G; p.K292E; 6:31355338-31355338 |
thyroid | other; neoplasm | Substitution - Missense |
c.874A>G; p.K292E; 6:31355338-31355338 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874A>G; p.K292E; 6:31355338-31355338 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.595_596GG>AA; p.G199K; 6:31356190-31356191 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.301A>G; p.S101G; 6:31356730-31356730 |
thyroid | other; neoplasm | Substitution - Missense |
c.589G>A; p.E197K; 6:31356197-31356197 |
breast | carcinoma | Substitution - Missense |
c.259A>G; p.N87D; 6:31356772-31356772 |
thyroid | other; neoplasm | Substitution - Missense |
c.259A>G; p.N87D; 6:31356772-31356772 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.589G>A; p.E197K; 6:31356197-31356197 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.589G>A; p.E197K; 6:31356197-31356197 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.205G>A; p.E69K; 6:31356826-31356826 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.205G>A; p.E69K; 6:31356826-31356826 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.205G>A; p.E69K; 6:31356826-31356826 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.205G>A; p.E69K; 6:31356826-31356826 |
thyroid | other; neoplasm | Substitution - Missense |
c.205G>A; p.E69K; 6:31356826-31356826 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.205G>A; p.E69K; 6:31356826-31356826 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.205G>A; p.E69K; 6:31356826-31356826 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.205G>A; p.E69K; 6:31356826-31356826 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.205G>A; p.E69K; 6:31356826-31356826 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.205G>A; p.E69K; 6:31356826-31356826 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.205G>A; p.E69K; 6:31356826-31356826 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.205G>A; p.E69K; 6:31356826-31356826 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.205G>A; p.E69K; 6:31356826-31356826 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.205G>A; p.E69K; 6:31356826-31356826 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1002G>A; p.R334R; 6:31355117-31355117 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.872C>A; p.P291Q; 6:31355340-31355340 |
thyroid | other; neoplasm | Substitution - Missense |
c.881T>G; p.L294R; 6:31355331-31355331 |
thyroid | other; neoplasm | Substitution - Missense |
c.401_403delTCC; p.L134delL; 6:31356383-31356385 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - In frame |
c.668C>T; p.A223V; 6:31355544-31355544 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.846A>G; p.T282T; 6:31355366-31355366 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.266A>G; p.Q89R; 6:31356765-31356765 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.846A>G; p.T282T; 6:31355366-31355366 |
thyroid | other; neoplasm | Substitution - coding silent |
c.369C>T; p.Y123Y; 6:31356417-31356417 |
thyroid | other; neoplasm | Substitution - coding silent |
c.369C>T; p.Y123Y; 6:31356417-31356417 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.846A>G; p.T282T; 6:31355366-31355366 |
thyroid | other; neoplasm | Substitution - coding silent |
c.568G>T; p.E190*; 6:31356218-31356218 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.863A>T; p.E288V; 6:31355349-31355349 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.213G>C; p.P71P; 6:31356818-31356818 |
thyroid | other; neoplasm | Substitution - coding silent |
c.213G>C; p.P71P; 6:31356818-31356818 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.213G>C; p.P71P; 6:31356818-31356818 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.213G>C; p.P71P; 6:31356818-31356818 |
thyroid | other; neoplasm | Substitution - coding silent |
c.610G>C; p.E204Q; 6:31356176-31356176 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.610G>C; p.E204Q; 6:31356176-31356176 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.610G>C; p.E204Q; 6:31356176-31356176 |
thyroid | other; neoplasm | Substitution - Missense |
c.610G>C; p.E204Q; 6:31356176-31356176 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.610G>C; p.E204Q; 6:31356176-31356176 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.610G>C; p.E204Q; 6:31356176-31356176 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.610G>C; p.E204Q; 6:31356176-31356176 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.610G>C; p.E204Q; 6:31356176-31356176 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.240G>T; p.G80G; 6:31356791-31356791 |
breast | carcinoma | Substitution - coding silent |
c.610G>C; p.E204Q; 6:31356176-31356176 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.610G>C; p.E204Q; 6:31356176-31356176 |
thyroid | other; neoplasm | Substitution - Missense |
c.610G>C; p.E204Q; 6:31356176-31356176 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.610G>C; p.E204Q; 6:31356176-31356176 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.610G>C; p.E204Q; 6:31356176-31356176 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.610G>C; p.E204Q; 6:31356176-31356176 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.485C>A; p.T162K; 6:31356301-31356301 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.617_618delCT; p.A206fs*14; 6:31356168-31356169 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1047C>T; p.C349C; 6:31354525-31354525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.485C>A; p.T162K; 6:31356301-31356301 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.485C>A; p.T162K; 6:31356301-31356301 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.485C>A; p.T162K; 6:31356301-31356301 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.485C>A; p.T162K; 6:31356301-31356301 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.485C>A; p.T162K; 6:31356301-31356301 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.459C>T; p.D153D; 6:31356327-31356327 |
breast | carcinoma | Substitution - coding silent |
c.650C>T; p.P217L; 6:31355562-31355562 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.459C>T; p.D153D; 6:31356327-31356327 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.228A>G; p.I76M; 6:31356803-31356803 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.228A>G; p.I76M; 6:31356803-31356803 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.228A>G; p.I76M; 6:31356803-31356803 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.774A>G; p.R258R; 6:31355438-31355438 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.193G>A; p.A65T; 6:31356838-31356838 |
thyroid | other; neoplasm | Substitution - Missense |
c.193G>A; p.A65T; 6:31356838-31356838 |
thyroid | other; neoplasm | Substitution - Missense |
c.774A>G; p.R258R; 6:31355438-31355438 |
thyroid | other; neoplasm | Substitution - coding silent |
c.309G>C; p.R103R; 6:31356722-31356722 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.774A>G; p.R258R; 6:31355438-31355438 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.412G>C; p.D138H; 6:31356374-31356374 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.314delT; p.L105fs*46; 6:31356717-31356717 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.448_449insC; p.L150fs*27; 6:31356337-31356338 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.19C>G; p.R7G; 6:31357140-31357140 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.206A>G; p.E69G; 6:31356825-31356825 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.506G>T; p.R169L; 6:31356280-31356280 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.19C>G; p.R7G; 6:31357140-31357140 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.506G>T; p.R169L; 6:31356280-31356280 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.165C>G; p.T55T; 6:31356866-31356866 |
thyroid | other; neoplasm | Substitution - coding silent |
c.180C>T; p.F60F; 6:31356851-31356851 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.180C>T; p.F60F; 6:31356851-31356851 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.705G>A; p.A235A; 6:31355507-31355507 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.74-4C>T; p.?; 6:31356961-31356961 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.705G>A; p.A235A; 6:31355507-31355507 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.74-8A>G; p.?; 6:31356965-31356965 |
thyroid | other; neoplasm | Unknown |
c.74-8A>G; p.?; 6:31356965-31356965 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.689T>C; p.L230P; 6:31355523-31355523 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.672C>T; p.T224T; 6:31355540-31355540 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.721T>C; p.W241R; 6:31355491-31355491 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.704C>A; p.A235E; 6:31355508-31355508 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.698A>G; p.Y233C; 6:31355514-31355514 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.362G>C; p.S121T; 6:31356424-31356424 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.986C>A; p.A329D; 6:31355133-31355133 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.755C>T; p.T252I; 6:31355457-31355457 |
skin | malignant_melanoma | Substitution - Missense |
c.971G>T; p.G324V; 6:31355148-31355148 |
thyroid | other; neoplasm | Substitution - Missense |
c.971G>T; p.G324V; 6:31355148-31355148 |
thyroid | other; neoplasm | Substitution - Missense |
c.538C>G; p.R180G; 6:31356248-31356248 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.538C>G; p.R180G; 6:31356248-31356248 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.538C>G; p.R180G; 6:31356248-31356248 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.538C>G; p.R180G; 6:31356248-31356248 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.538C>G; p.R180G; 6:31356248-31356248 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.371G>A; p.G124D; 6:31356415-31356415 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.922_923insA; p.I308fs*26; 6:31355196-31355197 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.206_207insT; p.E69fs*30; 6:31356824-31356825 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.206_207insT; p.E69fs*30; 6:31356824-31356825 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.206_207insT; p.E69fs*30; 6:31356824-31356825 |
breast | carcinoma | Insertion - Frameshift |
c.387G>C; p.P129P; 6:31356399-31356399 |
thyroid | other; neoplasm | Substitution - coding silent |
c.782G>C; p.G261A; 6:31355430-31355430 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.387G>C; p.P129P; 6:31356399-31356399 |
thyroid | other; neoplasm | Substitution - coding silent |
c.387G>C; p.P129P; 6:31356399-31356399 |
thyroid | other; neoplasm | Substitution - coding silent |
c.207_208insT; p.E70fs*1; 6:31356823-31356824 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.560A>C; p.E187A; 6:31356226-31356226 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.560A>C; p.E187A; 6:31356226-31356226 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.560A>C; p.E187A; 6:31356226-31356226 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.560A>C; p.E187A; 6:31356226-31356226 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.560A>C; p.E187A; 6:31356226-31356226 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.560A>C; p.E187A; 6:31356226-31356226 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.560A>C; p.E187A; 6:31356226-31356226 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.560A>C; p.E187A; 6:31356226-31356226 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.419A>T; p.Y140F; 6:31356367-31356367 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.605A>C; p.K202T; 6:31356181-31356181 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.605A>C; p.K202T; 6:31356181-31356181 |
thyroid | other; neoplasm | Substitution - Missense |
c.419A>T; p.Y140F; 6:31356367-31356367 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.419A>T; p.Y140F; 6:31356367-31356367 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.605A>C; p.K202T; 6:31356181-31356181 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.419A>T; p.Y140F; 6:31356367-31356367 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.419A>T; p.Y140F; 6:31356367-31356367 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.419A>T; p.Y140F; 6:31356367-31356367 |
thyroid | other; neoplasm | Substitution - Missense |
c.419A>T; p.Y140F; 6:31356367-31356367 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.605A>C; p.K202T; 6:31356181-31356181 |
thyroid | other; neoplasm | Substitution - Missense |
c.419A>T; p.Y140F; 6:31356367-31356367 |
thyroid | other; neoplasm | Substitution - Missense |
c.605A>C; p.K202T; 6:31356181-31356181 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.419A>T; p.Y140F; 6:31356367-31356367 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.419A>T; p.Y140F; 6:31356367-31356367 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.419A>T; p.Y140F; 6:31356367-31356367 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.985G>A; p.A329T; 6:31355134-31355134 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.985G>A; p.A329T; 6:31355134-31355134 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.985G>A; p.A329T; 6:31355134-31355134 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.985G>A; p.A329T; 6:31355134-31355134 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.106G>A; p.V36M; 6:31356925-31356925 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.269T>A; p.I90N; 6:31356762-31356762 |
thyroid | other; neoplasm | Substitution - Missense |
c.106G>A; p.V36M; 6:31356925-31356925 |
thyroid | other; neoplasm | Substitution - Missense |
c.106G>A; p.V36M; 6:31356925-31356925 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.106G>A; p.V36M; 6:31356925-31356925 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.299A>T; p.E100V; 6:31356732-31356732 |
thyroid | other; neoplasm | Substitution - Missense |
c.106G>A; p.V36M; 6:31356925-31356925 |
thyroid | other; neoplasm | Substitution - Missense |
c.560A>T; p.E187V; 6:31356226-31356226 |
thyroid | other; neoplasm | Substitution - Missense |
c.560A>T; p.E187V; 6:31356226-31356226 |
thyroid | other; neoplasm | Substitution - Missense |
c.560A>T; p.E187V; 6:31356226-31356226 |
thyroid | other; neoplasm | Substitution - Missense |
c.560A>T; p.E187V; 6:31356226-31356226 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.560A>T; p.E187V; 6:31356226-31356226 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.572G>C; p.W191S; 6:31356214-31356214 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.572G>C; p.W191S; 6:31356214-31356214 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.572G>C; p.W191S; 6:31356214-31356214 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.499A>T; p.T167S; 6:31356287-31356287 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.572G>C; p.W191S; 6:31356214-31356214 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.572G>C; p.W191S; 6:31356214-31356214 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.477C>G; p.A159A; 6:31356309-31356309 |
thyroid | other; neoplasm | Substitution - coding silent |
c.477C>G; p.A159A; 6:31356309-31356309 |
thyroid | other; neoplasm | Substitution - coding silent |
c.477C>G; p.A159A; 6:31356309-31356309 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.103T>G; p.S35A; 6:31356928-31356928 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.103T>G; p.S35A; 6:31356928-31356928 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.103T>G; p.S35A; 6:31356928-31356928 |
thyroid | other; neoplasm | Substitution - Missense |
c.103T>G; p.S35A; 6:31356928-31356928 |
thyroid | other; neoplasm | Substitution - Missense |
c.620-2A>C; p.?; 6:31355594-31355594 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.968T>C; p.I323T; 6:31355151-31355151 |
thyroid | other; neoplasm | Substitution - Missense |
c.312C>A; p.N104K; 6:31356719-31356719 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.212C>T; p.P71L; 6:31356819-31356819 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.636C>T; p.H212H; 6:31355576-31355576 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.246G>A; p.E82E; 6:31356785-31356785 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.862G>T; p.E288*; 6:31355350-31355350 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.710T>G; p.I237S; 6:31355502-31355502 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.583T>C; p.Y195H; 6:31356203-31356203 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.583T>C; p.Y195H; 6:31356203-31356203 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.583T>C; p.Y195H; 6:31356203-31356203 |
thyroid | other; neoplasm | Substitution - Missense |
c.583T>C; p.Y195H; 6:31356203-31356203 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.583T>C; p.Y195H; 6:31356203-31356203 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.583T>C; p.Y195H; 6:31356203-31356203 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.859C>T; p.H287Y; 6:31355353-31355353 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.343G>A; p.G115R; 6:31356688-31356688 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.648C>T; p.H216H; 6:31355564-31355564 |
liver | carcinoma | Substitution - coding silent |
c.855A>G; p.V285V; 6:31355357-31355357 |
thyroid | other; neoplasm | Substitution - coding silent |
c.855A>G; p.V285V; 6:31355357-31355357 |
thyroid | other; neoplasm | Substitution - coding silent |
c.355C>A; p.L119I; 6:31356431-31356431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.355C>A; p.L119I; 6:31356431-31356431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.355C>A; p.L119I; 6:31356431-31356431 |
thyroid | other; neoplasm | Substitution - Missense |
c.355C>A; p.L119I; 6:31356431-31356431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.355C>A; p.L119I; 6:31356431-31356431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.355C>A; p.L119I; 6:31356431-31356431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.355C>A; p.L119I; 6:31356431-31356431 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.409C>T; p.H137Y; 6:31356377-31356377 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.714_715delAC; p.L239fs*14; 6:31355497-31355498 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK-T_cell_lymphoma | Deletion - Frameshift |
c.409C>T; p.H137Y; 6:31356377-31356377 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.409C>T; p.H137Y; 6:31356377-31356377 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.311A>T; p.N104I; 6:31356720-31356720 |
thyroid | other; neoplasm | Substitution - Missense |
c.539G>A; p.R180Q; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.681C>A; p.C227*; 6:31355531-31355531 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.539G>A; p.R180Q; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.539G>A; p.R180Q; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.681C>A; p.C227*; 6:31355531-31355531 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.409C>T; p.H137Y; 6:31356377-31356377 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.409C>T; p.H137Y; 6:31356377-31356377 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.539G>A; p.R180Q; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.409C>T; p.H137Y; 6:31356377-31356377 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.409C>T; p.H137Y; 6:31356377-31356377 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.311A>T; p.N104I; 6:31356720-31356720 |
thyroid | other; neoplasm | Substitution - Missense |
c.539G>A; p.R180Q; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.409C>T; p.H137Y; 6:31356377-31356377 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.409C>T; p.H137Y; 6:31356377-31356377 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.409C>T; p.H137Y; 6:31356377-31356377 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.409C>T; p.H137Y; 6:31356377-31356377 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.409C>T; p.H137Y; 6:31356377-31356377 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.539G>A; p.R180Q; 6:31356247-31356247 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.409C>T; p.H137Y; 6:31356377-31356377 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1044G>A; p.A348A; 6:31354634-31354634 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1044G>A; p.A348A; 6:31354634-31354634 |
pancreas | carcinoma | Substitution - coding silent |
c.353C>T; p.T118I; 6:31356433-31356433 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.353C>T; p.T118I; 6:31356433-31356433 |
thyroid | other; neoplasm | Substitution - Missense |
c.353C>T; p.T118I; 6:31356433-31356433 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.353C>T; p.T118I; 6:31356433-31356433 |
thyroid | other; neoplasm | Substitution - Missense |
c.353C>T; p.T118I; 6:31356433-31356433 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.353C>T; p.T118I; 6:31356433-31356433 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.926_927delTG; p.V309fs*24; 6:31355192-31355193 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.353C>T; p.T118I; 6:31356433-31356433 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.419A>C; p.Y140S; 6:31356367-31356367 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.353C>T; p.T118I; 6:31356433-31356433 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.767A>T; p.E256V; 6:31355445-31355445 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.344-1G>C; p.?; 6:31356443-31356443 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.724C>T; p.Q242*; 6:31355488-31355488 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.207_208insC; p.E70fs*29; 6:31356823-31356824 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.709A>T; p.I237F; 6:31355503-31355503 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.141C>T; p.I47I; 6:31356890-31356890 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.141C>T; p.I47I; 6:31356890-31356890 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.141C>T; p.I47I; 6:31356890-31356890 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.720delC; p.W241fs*56; 6:31355492-31355492 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.317G>T; p.R106L; 6:31356714-31356714 |
thyroid | other; neoplasm | Substitution - Missense |
c.317G>T; p.R106L; 6:31356714-31356714 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.317G>T; p.R106L; 6:31356714-31356714 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.317G>T; p.R106L; 6:31356714-31356714 |
thyroid | other; neoplasm | Substitution - Missense |
c.317G>T; p.R106L; 6:31356714-31356714 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.787A>G; p.R263G; 6:31355425-31355425 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.787A>G; p.R263G; 6:31355425-31355425 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.787A>G; p.R263G; 6:31355425-31355425 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.787A>G; p.R263G; 6:31355425-31355425 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.787A>G; p.R263G; 6:31355425-31355425 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.272A>G; p.Y91C; 6:31356759-31356759 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.787A>G; p.R263G; 6:31355425-31355425 |
thyroid | other; neoplasm | Substitution - Missense |
c.787A>G; p.R263G; 6:31355425-31355425 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.787A>G; p.R263G; 6:31355425-31355425 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.272A>G; p.Y91C; 6:31356759-31356759 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.204delA; p.E69fs*8; 6:31356827-31356827 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.204delA; p.E69fs*8; 6:31356827-31356827 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.626_627insC; p.T211fs*10; 6:31355585-31355586 |
oesophagus | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1012+1G>A; p.?; 6:31355106-31355106 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.626_627insC; p.T211fs*10; 6:31355585-31355586 |
oesophagus | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.204delA; p.E69fs*8; 6:31356827-31356827 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1012+1G>A; p.?; 6:31355106-31355106 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.626_627insC; p.T211fs*10; 6:31355585-31355586 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.204delA; p.E69fs*8; 6:31356827-31356827 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.204delA; p.E69fs*8; 6:31356827-31356827 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.313C>G; p.L105V; 6:31356718-31356718 |
thyroid | other; neoplasm | Substitution - Missense |
c.313C>G; p.L105V; 6:31356718-31356718 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.559G>A; p.E187K; 6:31356227-31356227 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.924C>T; p.I308I; 6:31355195-31355195 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.559G>A; p.E187K; 6:31356227-31356227 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.538C>T; p.R180W; 6:31356248-31356248 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.538C>T; p.R180W; 6:31356248-31356248 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.559G>A; p.E187K; 6:31356227-31356227 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.538C>T; p.R180W; 6:31356248-31356248 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.133_134insC; p.R45fs*54; 6:31356897-31356898 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.538C>T; p.R180W; 6:31356248-31356248 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.313C>G; p.L105V; 6:31356718-31356718 |
thyroid | other; neoplasm | Substitution - Missense |
c.559G>A; p.E187K; 6:31356227-31356227 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.559G>A; p.E187K; 6:31356227-31356227 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.538C>T; p.R180W; 6:31356248-31356248 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.559G>A; p.E187K; 6:31356227-31356227 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.538C>T; p.R180W; 6:31356248-31356248 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.44delC; p.A15fs*5; 6:31357115-31357115 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.559G>A; p.E187K; 6:31356227-31356227 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.538C>T; p.R180W; 6:31356248-31356248 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.538C>T; p.R180W; 6:31356248-31356248 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.559G>A; p.E187K; 6:31356227-31356227 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.620-1G>C; p.?; 6:31355593-31355593 |
lung | carcinoma; adenocarcinoma | Unknown |
c.142T>G; p.S48A; 6:31356889-31356889 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.142T>G; p.S48A; 6:31356889-31356889 |
thyroid | other; neoplasm | Substitution - Missense |
c.292G>T; p.D98Y; 6:31356739-31356739 |
thyroid | other; neoplasm | Substitution - Missense |
c.512G>T; p.W171L; 6:31356274-31356274 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.226A>G; p.I76V; 6:31356805-31356805 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.80A>C; p.H27P; 6:31356951-31356951 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.226A>G; p.I76V; 6:31356805-31356805 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.292G>T; p.D98Y; 6:31356739-31356739 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.226A>G; p.I76V; 6:31356805-31356805 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.379G>C; p.V127L; 6:31356407-31356407 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.379G>C; p.V127L; 6:31356407-31356407 |
thyroid | other; neoplasm | Substitution - Missense |
c.379G>C; p.V127L; 6:31356407-31356407 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.379G>C; p.V127L; 6:31356407-31356407 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.626delC; p.P209fs*5; 6:31355586-31355586 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.626delC; p.P209fs*5; 6:31355586-31355586 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.412G>A; p.D138N; 6:31356374-31356374 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.412G>A; p.D138N; 6:31356374-31356374 |
thyroid | other; neoplasm | Substitution - Missense |
c.142T>A; p.S48T; 6:31356889-31356889 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.142T>A; p.S48T; 6:31356889-31356889 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.142T>A; p.S48T; 6:31356889-31356889 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.209A>C; p.E70A; 6:31356822-31356822 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.209A>C; p.E70A; 6:31356822-31356822 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.209A>C; p.E70A; 6:31356822-31356822 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.435G>A; p.K145K; 6:31356351-31356351 |
thyroid | other; neoplasm | Substitution - coding silent |
c.334A>C; p.S112R; 6:31356697-31356697 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.470G>A; p.W157*; 6:31356316-31356316 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.470G>A; p.W157*; 6:31356316-31356316 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.917delT; p.V306fs*13; 6:31355202-31355202 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.895G>A; p.E299K; 6:31355317-31355317 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.895G>A; p.E299K; 6:31355317-31355317 |
thyroid | other; neoplasm | Substitution - Missense |
c.895G>A; p.E299K; 6:31355317-31355317 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.302G>A; p.S101N; 6:31356729-31356729 |
thyroid | other; neoplasm | Substitution - Missense |
c.282G>C; p.Q94H; 6:31356749-31356749 |
thyroid | other; neoplasm | Substitution - Missense |
c.270C>T; p.I90I; 6:31356761-31356761 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.74-9C>T; p.?; 6:31356966-31356966 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.74-9C>T; p.?; 6:31356966-31356966 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.282G>C; p.Q94H; 6:31356749-31356749 |
thyroid | other; neoplasm | Substitution - Missense |
c.74-9C>T; p.?; 6:31356966-31356966 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.74-9C>T; p.?; 6:31356966-31356966 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.282G>C; p.Q94H; 6:31356749-31356749 |
thyroid | other; neoplasm | Substitution - Missense |
c.222G>A; p.P74P; 6:31356809-31356809 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.45G>A; p.A15A; 6:31357114-31357114 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.25G>C; p.V9L; 6:31357134-31357134 |
central_nervous_system; cerebellum | glioma; ependymoma | Substitution - Missense |
c.1016G>C; p.G339A; 6:31354662-31354662 |
skin | malignant_melanoma | Substitution - Missense |
c.723G>A; p.W241*; 6:31355489-31355489 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.956C>A; p.A319E; 6:31355163-31355163 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.786T>C; p.D262D; 6:31355426-31355426 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.314T>C; p.L105P; 6:31356717-31356717 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.314T>C; p.L105P; 6:31356717-31356717 |
thyroid | other; neoplasm | Substitution - Missense |
c.314T>C; p.L105P; 6:31356717-31356717 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.229G>C; p.E77Q; 6:31356802-31356802 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.314T>C; p.L105P; 6:31356717-31356717 |
pancreas | carcinoma | Substitution - Missense |
c.314T>C; p.L105P; 6:31356717-31356717 |
thyroid | other; neoplasm | Substitution - Missense |
c.314T>C; p.L105P; 6:31356717-31356717 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.314T>C; p.L105P; 6:31356717-31356717 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.357C>G; p.L119L; 6:31356429-31356429 |
thyroid | other; neoplasm | Substitution - coding silent |
c.895+2T>C; p.?; 6:31355315-31355315 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.357C>G; p.L119L; 6:31356429-31356429 |
thyroid | other; neoplasm | Substitution - coding silent |
c.285A>G; p.A95A; 6:31356746-31356746 |
thyroid | other; neoplasm | Substitution - coding silent |