| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 7038 |
Name | TG |
Synonymous | thyroglobulin;TG;thyroglobulin |
Definition | - |
Position | 8q24 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.646G>A; p.D216N; 8:132881870-132881870 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1981G>T; p.D661Y; 8:132887353-132887353 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3554A>G; p.Q1185R; 8:132901473-132901473 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6369C>A; p.F2123L; 8:133012007-133012007 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6877G>A; p.A2293T; 8:133021991-133021991 |
breast | carcinoma | Substitution - Missense |
c.646G>A; p.D216N; 8:132881870-132881870 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.646G>A; p.D216N; 8:132881870-132881870 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1346C>T; p.P449L; 8:132886718-132886718 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7037-1G>T; p.?; 8:133029820-133029820 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1337C>A; p.A446E; 8:132886709-132886709 |
stomach | adenocarcinoma | Substitution - Missense |
c.2755C>T; p.P919S; 8:132888562-132888562 |
skin | malignant_melanoma | Substitution - Missense |
c.746-2A>G; p.?; 8:132882467-132882467 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1798G>A; p.E600K; 8:132887170-132887170 |
skin | malignant_melanoma | Substitution - Missense |
c.1416T>C; p.F472F; 8:132886788-132886788 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.7124G>A; p.G2375E; 8:133029908-133029908 |
skin | malignant_melanoma | Substitution - Missense |
c.4126C>A; p.P1376T; 8:132911500-132911500 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.806C>T; p.S269F; 8:132882529-132882529 |
skin | malignant_melanoma | Substitution - Missense |
c.5265C>A; p.P1755P; 8:132948807-132948807 |
skin | malignant_melanoma | Substitution - coding silent |
c.3530C>A; p.S1177Y; 8:132901449-132901449 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3583G>A; p.G1195R; 8:132901502-132901502 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3583G>A; p.G1195R; 8:132901502-132901502 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3406C>T; p.R1136W; 8:132900312-132900312 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.418T>G; p.C140G; 8:132871491-132871491 |
thyroid | carcinoma | Substitution - Missense |
c.2099A>G; p.N700S; 8:132887471-132887471 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1141G>T; p.G381C; 8:132886513-132886513 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.7156C>T; p.R2386C; 8:133029940-133029940 |
skin | malignant_melanoma | Substitution - Missense |
c.8265C>T; p.L2755L; 8:133134752-133134752 |
skin | malignant_melanoma | Substitution - coding silent |
c.8085G>C; p.E2695D; 8:133133557-133133557 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6596C>T; p.P2199L; 8:133017811-133017811 |
breast | carcinoma | Substitution - Missense |
c.666T>C; p.S222S; 8:132881890-132881890 |
thyroid | carcinoma | Substitution - coding silent |
c.2963G>C; p.R988P; 8:132893891-132893891 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.593A>G; p.N198S; 8:132873176-132873176 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7637C>T; p.S2546F; 8:133113486-133113486 |
skin | malignant_melanoma | Substitution - Missense |
c.6452C>A; p.A2151D; 8:133013654-133013654 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.7115G>T; p.G2372V; 8:133029899-133029899 |
breast | carcinoma | Substitution - Missense |
c.6071G>A; p.C2024Y; 8:132972613-132972613 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7021G>A; p.G2341S; 8:133022135-133022135 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.7423C>T; p.P2475S; 8:133096224-133096224 |
skin | malignant_melanoma | Substitution - Missense |
c.4262C>T; p.T1421I; 8:132913149-132913149 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2965G>T; p.G989W; 8:132893893-132893893 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.7796C>T; p.A2599V; 8:133116650-133116650 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4925C>T; p.S1642F; 8:132933669-132933669 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5034G>C; p.L1678F; 8:132935857-132935857 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1680G>T; p.E560D; 8:132887052-132887052 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.332G>A; p.S111N; 8:132871405-132871405 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.312A>T; p.L104F; 8:132871385-132871385 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.970G>C; p.D324H; 8:132882894-132882894 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.3524G>A; p.G1175D; 8:132901443-132901443 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.332G>A; p.S111N; 8:132871405-132871405 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4936C>T; p.R1646*; 8:132935759-132935759 |
breast | carcinoma | Substitution - Nonsense |
c.7118T>G; p.F2373C; 8:133029902-133029902 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6291C>T; p.A2097A; 8:133011929-133011929 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1503C>T; p.F501F; 8:132886875-132886875 |
skin | malignant_melanoma | Substitution - coding silent |
c.6501G>T; p.L2167L; 8:133013703-133013703 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6885C>T; p.N2295N; 8:133021999-133021999 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4831G>A; p.E1611K; 8:132933575-132933575 |
skin | malignant_melanoma | Substitution - Missense |
c.242T>C; p.L81P; 8:132869794-132869794 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8095G>A; p.E2699K; 8:133133567-133133567 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4562T>A; p.L1521Q; 8:132923371-132923371 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2268C>T; p.S756S; 8:132888075-132888075 |
pancreas | carcinoma | Substitution - coding silent |
c.4377C>A; p.C1459*; 8:132913264-132913264 |
pancreas | carcinoma | Substitution - Nonsense |
c.6097C>A; p.Q2033K; 8:132972639-132972639 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2849G>A; p.R950Q; 8:132893777-132893777 |
thyroid | carcinoma | Substitution - Missense |
c.4377C>A; p.C1459*; 8:132913264-132913264 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.2932C>T; p.P978S; 8:132893860-132893860 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3604C>T; p.R1202C; 8:132901523-132901523 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4377C>A; p.C1459*; 8:132913264-132913264 |
pancreas | carcinoma | Substitution - Nonsense |
c.1045A>G; p.T349A; 8:132882969-132882969 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6034C>T; p.L2012L; 8:132971852-132971852 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.111G>C; p.Q37H; 8:132868158-132868158 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5039A>G; p.K1680R; 8:132935862-132935862 |
pancreas | carcinoma | Substitution - Missense |
c.5039A>G; p.K1680R; 8:132935862-132935862 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6554G>A; p.R2185Q; 8:133013756-133013756 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3314T>C; p.V1105A; 8:132898894-132898894 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2433A>G; p.E811E; 8:132888240-132888240 |
skin | malignant_melanoma | Substitution - coding silent |
c.4620G>A; p.K1540K; 8:132923429-132923429 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.7733G>A; p.R2578Q; 8:133113582-133113582 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3983G>A; p.R1328H; 8:132908321-132908321 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3492C>A; p.G1164G; 8:132901411-132901411 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.5899C>T; p.R1967C; 8:132969493-132969493 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4629T>C; p.C1543C; 8:132923438-132923438 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4249T>G; p.F1417V; 8:132913136-132913136 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2577G>T; p.E859D; 8:132888384-132888384 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6380G>A; p.R2127Q; 8:133012018-133012018 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.4714G>C; p.E1572Q; 8:132929090-132929090 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6694C>T; p.P2232S; 8:133017909-133017909 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.535T>C; p.S179P; 8:132873118-132873118 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.5367G>A; p.V1789V; 8:132948909-132948909 |
skin | malignant_melanoma | Substitution - coding silent |
c.4723C>G; p.P1575A; 8:132929099-132929099 |
skin | malignant_melanoma | Substitution - Missense |
c.7325G>T; p.C2442F; 8:133095129-133095129 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1886T>C; p.V629A; 8:132887258-132887258 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4485G>A; p.V1495V; 8:132919482-132919482 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.7384C>T; p.L2462F; 8:133095188-133095188 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.7997+1G>T; p.?; 8:133131947-133131947 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.3323G>A; p.C1108Y; 8:132898903-132898903 |
liver | carcinoma | Substitution - Missense |
c.969C>T; p.G323G; 8:132882893-132882893 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3323G>A; p.C1108Y; 8:132898903-132898903 |
liver | carcinoma | Substitution - Missense |
c.5859G>T; p.K1953N; 8:132967966-132967966 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4137T>C; p.S1379S; 8:132911511-132911511 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.7326C>T; p.C2442C; 8:133095130-133095130 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7223G>A; p.R2408Q; 8:133030007-133030007 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7364G>T; p.R2455L; 8:133095168-133095168 |
liver | carcinoma | Substitution - Missense |
c.7364G>T; p.R2455L; 8:133095168-133095168 |
liver | carcinoma | Substitution - Missense |
c.7223G>A; p.R2408Q; 8:133030007-133030007 |
skin | malignant_melanoma | Substitution - Missense |
c.7509G>T; p.E2503D; 8:133096310-133096310 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7986C>T; p.F2662F; 8:133131935-133131935 |
skin | malignant_melanoma | Substitution - coding silent |
c.8069_8070CC>TT; p.P2690L; 8:133133541-133133542 |
skin | malignant_melanoma | Substitution - Missense |
c.5093A>C; p.Q1698P; 8:132941402-132941402 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4201G>A; p.D1401N; 8:132913088-132913088 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.462G>A; p.L154L; 8:132871535-132871535 |
skin | malignant_melanoma | Substitution - coding silent |
c.8069_8070CC>TT; p.P2690L; 8:133133541-133133542 |
skin | malignant_melanoma | Substitution - Missense |
c.3130G>A; p.A1044T; 8:132897777-132897777 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2488C>A; p.Q830K; 8:132888295-132888295 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6758G>T; p.G2253V; 8:133017973-133017973 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7512C>T; p.V2504V; 8:133096313-133096313 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3971A>T; p.E1324V; 8:132908309-132908309 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4743C>T; p.F1581F; 8:132929119-132929119 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3965T>C; p.L1322S; 8:132908303-132908303 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7512C>T; p.V2504V; 8:133096313-133096313 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7534C>T; p.Q2512*; 8:133096335-133096335 |
skin | malignant_melanoma | Substitution - Nonsense |
c.4220C>G; p.S1407*; 8:132913107-132913107 |
breast | carcinoma; ductolobular_carcinoma | Substitution - Nonsense |
c.8059G>C; p.D2687H; 8:133133531-133133531 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5981T>C; p.F1994S; 8:132971799-132971799 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.6576C>A; p.L2192L; 8:133017791-133017791 |
breast | carcinoma | Substitution - coding silent |
c.6937G>A; p.G2313R; 8:133022051-133022051 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1610C>T; p.A537V; 8:132886982-132886982 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4589G>A; p.R1530Q; 8:132923398-132923398 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6832A>T; p.S2278C; 8:133019651-133019651 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7543G>A; p.G2515R; 8:133096344-133096344 |
liver | carcinoma | Substitution - Missense |
c.7543G>A; p.G2515R; 8:133096344-133096344 |
liver | carcinoma | Substitution - Missense |
c.7863-1G>A; p.?; 8:133131811-133131811 |
skin | malignant_melanoma | Unknown |
c.4033C>T; p.P1345S; 8:132911407-132911407 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.979G>T; p.A327S; 8:132882903-132882903 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.932T>G; p.F311C; 8:132882856-132882856 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2922G>A; p.P974P; 8:132893850-132893850 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2922G>A; p.P974P; 8:132893850-132893850 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.6454G>C; p.V2152L; 8:133013656-133013656 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6131G>A; p.R2044H; 8:132972673-132972673 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1507C>A; p.Q503K; 8:132886879-132886879 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.3910A>G; p.K1304E; 8:132908248-132908248 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4057C>T; p.Q1353*; 8:132911431-132911431 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.3910A>G; p.K1304E; 8:132908248-132908248 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.927C>A; p.T309T; 8:132882851-132882851 |
thyroid | other; neoplasm | Substitution - coding silent |
c.932T>G; p.F311C; 8:132882856-132882856 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.4093A>G; p.N1365D; 8:132911467-132911467 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3377G>T; p.C1126F; 8:132900283-132900283 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.6617A>T; p.H2206L; 8:133017832-133017832 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3026G>A; p.R1009H; 8:132897673-132897673 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4144G>T; p.D1382Y; 8:132911518-132911518 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4082G>A; p.R1361H; 8:132911456-132911456 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2226G>A; p.V742V; 8:132888033-132888033 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1268G>A; p.R423H; 8:132886640-132886640 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3917G>C; p.C1306S; 8:132908255-132908255 |
thyroid | carcinoma | Substitution - Missense |
c.7132C>T; p.R2378W; 8:133029916-133029916 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1064C>T; p.P355L; 8:132882988-132882988 |
liver | carcinoma | Substitution - Missense |
c.4744G>A; p.D1582N; 8:132929120-132929120 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6057A>G; p.G2019G; 8:132972599-132972599 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7594C>T; p.R2532W; 8:133113443-133113443 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.5467+6C>G; p.?; 8:132961079-132961079 |
liver | carcinoma | Unknown |
c.1702C>A; p.L568I; 8:132887074-132887074 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1911G>A; p.W637*; 8:132887283-132887283 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5502A>G; p.G1834G; 8:132963028-132963028 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1403A>G; p.Q468R; 8:132886775-132886775 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.976C>T; p.Q326*; 8:132882900-132882900 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2976C>T; p.Y992Y; 8:132893904-132893904 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3694G>C; p.E1232Q; 8:132906747-132906747 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3694G>C; p.E1232Q; 8:132906747-132906747 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3694G>C; p.E1232Q; 8:132906747-132906747 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.7662C>T; p.A2554A; 8:133113511-133113511 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3034C>T; p.P1012S; 8:132897681-132897681 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6001G>A; p.D2001N; 8:132971819-132971819 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6747G>A; p.L2249L; 8:133017962-133017962 |
breast | carcinoma | Substitution - coding silent |
c.6121G>T; p.G2041*; 8:132972663-132972663 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.7770C>A; p.I2590I; 8:133116624-133116624 |
skin | malignant_melanoma | Substitution - coding silent |
c.6348C>A; p.S2116R; 8:133011986-133011986 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.158C>T; p.A53V; 8:132868205-132868205 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8250G>C; p.G2750G; 8:133134737-133134737 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1140A>G; p.S380S; 8:132886512-132886512 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.8230G>A; p.E2744K; 8:133134717-133134717 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3930C>T; p.Y1310Y; 8:132908268-132908268 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7416G>C; p.V2472V; 8:133096217-133096217 |
NS | NS | Substitution - coding silent |
c.4275C>T; p.L1425L; 8:132913162-132913162 |
skin | malignant_melanoma | Substitution - coding silent |
c.1882G>A; p.D628N; 8:132887254-132887254 |
skin | malignant_melanoma | Substitution - Missense |
c.6348C>A; p.S2116R; 8:133011986-133011986 |
prostate | carcinoma | Substitution - Missense |
c.4892C>A; p.A1631D; 8:132933636-132933636 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3641G>A; p.R1214Q; 8:132906694-132906694 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4176C>T; p.G1392G; 8:132913063-132913063 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.782T>G; p.I261S; 8:132882505-132882505 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3445T>C; p.C1149R; 8:132901364-132901364 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5362C>A; p.Q1788K; 8:132948904-132948904 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4251C>T; p.F1417F; 8:132913138-132913138 |
skin | malignant_melanoma | Substitution - coding silent |
c.2857C>G; p.L953V; 8:132893785-132893785 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7141T>G; p.S2381A; 8:133029925-133029925 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4285C>T; p.H1429Y; 8:132913172-132913172 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5499G>T; p.M1833I; 8:132963025-132963025 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3320C>T; p.A1107V; 8:132898900-132898900 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.5499G>T; p.M1833I; 8:132963025-132963025 |
pleura | pulmonary_blastoma | Substitution - Missense |
c.120G>A; p.T40T; 8:132868167-132868167 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5963C>A; p.S1988Y; 8:132969557-132969557 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.228C>T; p.N76N; 8:132869780-132869780 |
breast | carcinoma | Substitution - coding silent |
c.4028C>T; p.S1343F; 8:132911402-132911402 |
skin | malignant_melanoma | Substitution - Missense |
c.7516C>T; p.L2506L; 8:133096317-133096317 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.6343G>A; p.V2115I; 8:133011981-133011981 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1862C>T; p.T621M; 8:132887234-132887234 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6817A>T; p.T2273S; 8:133019636-133019636 |
skin | malignant_melanoma | Substitution - Missense |
c.3634A>T; p.S1212C; 8:132901553-132901553 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1802C>T; p.T601M; 8:132887174-132887174 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.5375G>A; p.R1792H; 8:132948917-132948917 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.981G>A; p.A327A; 8:132882905-132882905 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1296G>T; p.Q432H; 8:132886668-132886668 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.980C>T; p.A327V; 8:132882904-132882904 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3234G>C; p.E1078D; 8:132898814-132898814 |
breast | carcinoma | Substitution - Missense |
c.4103G>A; p.W1368*; 8:132911477-132911477 |
skin | malignant_melanoma | Substitution - Nonsense |
c.4237G>A; p.D1413N; 8:132913124-132913124 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5657C>T; p.A1886V; 8:132966668-132966668 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3665C>T; p.S1222L; 8:132906718-132906718 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3665C>T; p.S1222L; 8:132906718-132906718 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4237G>A; p.D1413N; 8:132913124-132913124 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2071G>A; p.G691R; 8:132887443-132887443 |
skin | malignant_melanoma | Substitution - Missense |
c.5686+1G>A; p.?; 8:132966698-132966698 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.4830C>T; p.D1610D; 8:132933574-132933574 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2200T>G; p.S734A; 8:132888007-132888007 |
thyroid | other; neoplasm | Substitution - Missense |
c.5202C>T; p.C1734C; 8:132941511-132941511 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5202C>T; p.C1734C; 8:132941511-132941511 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7666G>A; p.V2556I; 8:133113515-133113515 |
pancreas | carcinoma | Substitution - Missense |
c.6920A>G; p.D2307G; 8:133022034-133022034 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7620C>A; p.Y2540*; 8:133113469-133113469 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2674C>T; p.H892Y; 8:132888481-132888481 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1476A>G; p.R492R; 8:132886848-132886848 |
breast | carcinoma | Substitution - coding silent |
c.4830C>G; p.D1610E; 8:132933574-132933574 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3955G>A; p.V1319I; 8:132908293-132908293 |
skin | malignant_melanoma | Substitution - Missense |
c.1340delT; p.S450fs*29; 8:132886712-132886712 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6773G>T; p.S2258I; 8:133017988-133017988 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4532T>C; p.V1511A; 8:132923341-132923341 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2783C>T; p.A928V; 8:132893711-132893711 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2783C>T; p.A928V; 8:132893711-132893711 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2783C>T; p.A928V; 8:132893711-132893711 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.7548C>A; p.L2516L; 8:133096349-133096349 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1634A>G; p.N545S; 8:132887006-132887006 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2783C>T; p.A928V; 8:132893711-132893711 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.6938G>T; p.G2313V; 8:133022052-133022052 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4532T>C; p.V1511A; 8:132923341-132923341 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.678G>C; p.R226S; 8:132881902-132881902 |
breast | carcinoma | Substitution - Missense |
c.1363C>T; p.R455C; 8:132886735-132886735 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6517C>T; p.R2173*; 8:133013719-133013719 |
liver | carcinoma | Substitution - Nonsense |
c.2404C>A; p.L802M; 8:132888211-132888211 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1592C>T; p.S531F; 8:132886964-132886964 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7123G>A; p.G2375R; 8:133029907-133029907 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6666G>T; p.W2222C; 8:133017881-133017881 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.3920G>A; p.S1307N; 8:132908258-132908258 |
skin | malignant_melanoma | Substitution - Missense |
c.3082A>G; p.M1028V; 8:132897729-132897729 |
thyroid | other; neoplasm | Substitution - Missense |
c.5906C>T; p.P1969L; 8:132969500-132969500 |
skin | malignant_melanoma | Substitution - Missense |
c.6518G>A; p.R2173Q; 8:133013720-133013720 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.7595G>A; p.R2532Q; 8:133113444-133113444 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7595G>A; p.R2532Q; 8:133113444-133113444 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5386C>A; p.Q1796K; 8:132948928-132948928 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3398A>G; p.E1133G; 8:132900304-132900304 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.710G>A; p.C237Y; 8:132881934-132881934 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4511C>A; p.A1504D; 8:132919508-132919508 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4377C>T; p.C1459C; 8:132913264-132913264 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4367G>T; p.G1456V; 8:132913254-132913254 |
skin | malignant_melanoma | Substitution - Missense |
c.7653C>T; p.D2551D; 8:133113502-133113502 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5875G>T; p.D1959Y; 8:132969469-132969469 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2231C>T; p.A744V; 8:132888038-132888038 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7956G>A; p.S2652S; 8:133131905-133131905 |
pancreas | carcinoma | Substitution - coding silent |
c.6009C>A; p.D2003E; 8:132971827-132971827 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.7956G>A; p.S2652S; 8:133131905-133131905 |
pancreas | NS | Substitution - coding silent |
c.4937G>A; p.R1646Q; 8:132935760-132935760 |
skin | malignant_melanoma | Substitution - Missense |
c.4937G>A; p.R1646Q; 8:132935760-132935760 |
skin | malignant_melanoma | Substitution - Missense |
c.6009C>A; p.D2003E; 8:132971827-132971827 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.7157G>A; p.R2386H; 8:133029941-133029941 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8056C>T; p.P2686S; 8:133133528-133133528 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6009C>A; p.D2003E; 8:132971827-132971827 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2231C>T; p.A744V; 8:132888038-132888038 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7157G>A; p.R2386H; 8:133029941-133029941 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7991G>T; p.R2664I; 8:133131940-133131940 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5930C>T; p.S1977F; 8:132969524-132969524 |
skin | malignant_melanoma | Substitution - Missense |
c.2187C>T; p.P729P; 8:132887994-132887994 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.7637C>A; p.S2546Y; 8:133113486-133113486 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.433G>C; p.G145R; 8:132871506-132871506 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.7920C>T; p.Y2640Y; 8:133131869-133131869 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116G>A; p.L372L; 8:132886488-132886488 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1534G>A; p.G512R; 8:132886906-132886906 |
skin | malignant_melanoma | Substitution - Missense |
c.1737C>G; p.L579L; 8:132887109-132887109 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.7920C>T; p.Y2640Y; 8:133131869-133131869 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.196G>A; p.D66N; 8:132869748-132869748 |
skin | malignant_melanoma | Substitution - Missense |
c.7900C>T; p.L2634F; 8:133131849-133131849 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7920C>T; p.Y2640Y; 8:133131869-133131869 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.7061delG; p.L2356fs*8; 8:133029845-133029845 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.1737C>G; p.L579L; 8:132887109-132887109 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1116G>A; p.L372L; 8:132886488-132886488 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.486G>C; p.R162S; 8:132873069-132873069 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1412T>G; p.L471R; 8:132886784-132886784 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7363C>T; p.R2455C; 8:133095167-133095167 |
skin | malignant_melanoma | Substitution - Missense |
c.3356C>T; p.A1119V; 8:132900262-132900262 |
liver | carcinoma | Substitution - Missense |
c.3922G>T; p.A1308S; 8:132908260-132908260 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7511T>A; p.V2504D; 8:133096312-133096312 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.554C>T; p.A185V; 8:132873137-132873137 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3484A>T; p.S1162C; 8:132901403-132901403 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1155G>A; p.Q385Q; 8:132886527-132886527 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6248C>T; p.S2083F; 8:132983398-132983398 |
skin | malignant_melanoma | Substitution - Missense |
c.7136G>A; p.R2379H; 8:133029920-133029920 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7036+1G>A; p.?; 8:133022151-133022151 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.4300C>T; p.P1434S; 8:132913187-132913187 |
skin | malignant_melanoma | Substitution - Missense |
c.7129C>T; p.P2377S; 8:133029913-133029913 |
skin | malignant_melanoma | Substitution - Missense |
c.4535C>G; p.T1512S; 8:132923344-132923344 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.5264C>G; p.P1755R; 8:132948806-132948806 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2676T>C; p.H892H; 8:132888483-132888483 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2676T>C; p.H892H; 8:132888483-132888483 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2676T>C; p.H892H; 8:132888483-132888483 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6951C>G; p.I2317M; 8:133022065-133022065 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2676T>C; p.H892H; 8:132888483-132888483 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2429G>C; p.R810T; 8:132888236-132888236 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.475C>T; p.R159*; 8:132871548-132871548 |
liver | carcinoma | Substitution - Nonsense |
c.475C>T; p.R159*; 8:132871548-132871548 |
liver | carcinoma | Substitution - Nonsense |
c.6877-4A>G; p.?; 8:133021987-133021987 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.1002G>A; p.G334G; 8:132882926-132882926 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.4559G>A; p.G1520D; 8:132923368-132923368 |
skin | malignant_melanoma | Substitution - Missense |
c.1635T>C; p.N545N; 8:132887007-132887007 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1419A>G; p.G473G; 8:132886791-132886791 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.1419A>G; p.G473G; 8:132886791-132886791 |
pancreas | carcinoma | Substitution - coding silent |
c.8238G>A; p.T2746T; 8:133134725-133134725 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.526G>A; p.G176R; 8:132873109-132873109 |
skin | malignant_melanoma | Substitution - Missense |
c.7525G>T; p.G2509W; 8:133096326-133096326 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5241C>A; p.I1747I; 8:132948783-132948783 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.707A>G; p.H236R; 8:132881931-132881931 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2625A>C; p.Q875H; 8:132888432-132888432 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3171G>T; p.G1057G; 8:132898200-132898200 |
breast | carcinoma | Substitution - coding silent |
c.1579G>A; p.D527N; 8:132886951-132886951 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5993G>A; p.R1998Q; 8:132971811-132971811 |
oesophagus | carcinoma | Substitution - Missense |
c.7532C>A; p.S2511Y; 8:133096333-133096333 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7867G>A; p.E2623K; 8:133131816-133131816 |
skin | malignant_melanoma | Substitution - Missense |
c.7532C>A; p.S2511Y; 8:133096333-133096333 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5421A>G; p.G1807G; 8:132961027-132961027 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5262A>C; p.S1754S; 8:132948804-132948804 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3660C>T; p.N1220N; 8:132906713-132906713 |
breast | carcinoma | Substitution - coding silent |
c.7243G>A; p.G2415S; 8:133095047-133095047 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7015G>A; p.V2339I; 8:133022129-133022129 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3660C>T; p.N1220N; 8:132906713-132906713 |
prostate | carcinoma | Substitution - coding silent |
c.3235A>G; p.K1079E; 8:132898815-132898815 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; non_functioning | Substitution - Missense |
c.4949G>A; p.G1650E; 8:132935772-132935772 |
skin | malignant_melanoma | Substitution - Missense |
c.8278G>A; p.E2760K; 8:133134765-133134765 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4809C>T; p.C1603C; 8:132929185-132929185 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3837G>A; p.R1279R; 8:132906890-132906890 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - coding silent |
c.378C>T; p.Y126Y; 8:132871451-132871451 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8215G>A; p.E2739K; 8:133134702-133134702 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3248G>C; p.S1083T; 8:132898828-132898828 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.4424C>A; p.P1475H; 8:132919421-132919421 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4681G>A; p.E1561K; 8:132923490-132923490 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3133G>A; p.G1045R; 8:132897780-132897780 |
breast | carcinoma | Substitution - Missense |
c.57C>T; p.A19A; 8:132867057-132867057 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2764C>A; p.P922T; 8:132893692-132893692 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7694C>T; p.S2565F; 8:133113543-133113543 |
skin | malignant_melanoma | Substitution - Missense |
c.5598C>A; p.V1866V; 8:132966609-132966609 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4635C>T; p.D1545D; 8:132923444-132923444 |
prostate | carcinoma | Substitution - coding silent |
c.7478C>G; p.A2493G; 8:133096279-133096279 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5274G>A; p.L1758L; 8:132948816-132948816 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8020T>C; p.F2674L; 8:133133492-133133492 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.195C>T; p.N65N; 8:132869747-132869747 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.98C>T; p.P33L; 8:132868145-132868145 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.5905C>T; p.P1969S; 8:132969499-132969499 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5014G>A; p.D1672N; 8:132935837-132935837 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5589G>T; p.Q1863H; 8:132966600-132966600 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3935A>G; p.D1312G; 8:132908273-132908273 |
thyroid | other; neoplasm | Substitution - Missense |
c.195C>T; p.N65N; 8:132869747-132869747 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3935A>G; p.D1312G; 8:132908273-132908273 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.98C>T; p.P33L; 8:132868145-132868145 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.342C>A; p.T114T; 8:132871415-132871415 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7266C>A; p.A2422A; 8:133095070-133095070 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6779C>T; p.P2260L; 8:133017994-133017994 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4886T>C; p.F1629S; 8:132933630-132933630 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3G>A; p.M1I; 8:132867003-132867003 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3459G>C; p.K1153N; 8:132901378-132901378 |
breast | carcinoma | Substitution - Missense |
c.2346C>T; p.F782F; 8:132888153-132888153 |
skin | malignant_melanoma | Substitution - coding silent |
c.3459G>C; p.K1153N; 8:132901378-132901378 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.7279G>A; p.E2427K; 8:133095083-133095083 |
skin | malignant_melanoma | Substitution - Missense |
c.2861G>A; p.G954E; 8:132893789-132893789 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6109G>A; p.E2037K; 8:132972651-132972651 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4817-1G>A; p.?; 8:132933560-132933560 |
urinary_tract; bladder | carcinoma | Unknown |
c.4212G>C; p.Q1404H; 8:132913099-132913099 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5946G>A; p.V1982V; 8:132969540-132969540 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4817-1G>A; p.?; 8:132933560-132933560 |
urinary_tract; bladder | carcinoma | Unknown |
c.4600A>G; p.K1534E; 8:132923409-132923409 |
thyroid | carcinoma | Substitution - Missense |
c.7496C>A; p.S2499Y; 8:133096297-133096297 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3663_3670delGTCGGAGG; p.S1222fs*8; 8:132906716-132906723 |
prostate | carcinoma | Deletion - Frameshift |
c.5512G>A; p.D1838N; 8:132963038-132963038 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5266A>C; p.S1756R; 8:132948808-132948808 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.7266C>T; p.A2422A; 8:133095070-133095070 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5512G>A; p.D1838N; 8:132963038-132963038 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.7266C>T; p.A2422A; 8:133095070-133095070 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4342T>C; p.L1448L; 8:132913229-132913229 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4012T>C; p.F1338L; 8:132911386-132911386 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3946A>T; p.T1316S; 8:132908284-132908284 |
small_intestine | carcinoid-endocrine_tumour | Substitution - Missense |
c.3886T>A; p.F1296I; 8:132908224-132908224 |
prostate | adenoma | Substitution - Missense |
c.7016T>C; p.V2339A; 8:133022130-133022130 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3746G>T; p.C1249F; 8:132906799-132906799 |
breast | carcinoma | Substitution - Missense |
c.5573C>T; p.P1858L; 8:132966584-132966584 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4882G>T; p.D1628Y; 8:132933626-132933626 |
breast | carcinoma | Substitution - Missense |
c.4772C>T; p.S1591F; 8:132929148-132929148 |
skin | malignant_melanoma | Substitution - Missense |
c.1907G>T; p.C636F; 8:132887279-132887279 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4496C>A; p.T1499N; 8:132919493-132919493 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1907G>T; p.C636F; 8:132887279-132887279 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.5174T>A; p.L1725H; 8:132941483-132941483 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2767G>C; p.G923R; 8:132893695-132893695 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.5936G>A; p.R1979K; 8:132969530-132969530 |
skin | malignant_melanoma | Substitution - Missense |
c.5830C>T; p.P1944S; 8:132967937-132967937 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6827G>A; p.G2276E; 8:133019646-133019646 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.711T>C; p.C237C; 8:132881935-132881935 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6827G>A; p.G2276E; 8:133019646-133019646 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3291C>G; p.N1097K; 8:132898871-132898871 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.8148C>T; p.S2716S; 8:133133620-133133620 |
skin | malignant_melanoma | Substitution - coding silent |
c.2873T>C; p.L958P; 8:132893801-132893801 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4487G>A; p.G1496D; 8:132919484-132919484 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4642G>T; p.G1548W; 8:132923451-132923451 |
skin | malignant_melanoma | Substitution - Missense |
c.3543T>C; p.C1181C; 8:132901462-132901462 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7664G>A; p.R2555H; 8:133113513-133113513 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7345G>T; p.E2449*; 8:133095149-133095149 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.7097T>G; p.V2366G; 8:133029881-133029881 |
breast | carcinoma | Substitution - Missense |
c.3200C>T; p.S1067F; 8:132898229-132898229 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.341C>G; p.T114S; 8:132871414-132871414 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2555G>A; p.G852E; 8:132888362-132888362 |
skin | malignant_melanoma | Substitution - Missense |
c.1985G>A; p.C662Y; 8:132887357-132887357 |
breast | carcinoma | Substitution - Missense |
c.3808C>T; p.R1270C; 8:132906861-132906861 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4864G>A; p.E1622K; 8:132933608-132933608 |
skin | malignant_melanoma | Substitution - Missense |
c.4772C>A; p.S1591Y; 8:132929148-132929148 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4841G>A; p.S1614N; 8:132933585-132933585 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1579G>T; p.D527Y; 8:132886951-132886951 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3709C>A; p.P1237T; 8:132906762-132906762 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3098C>A; p.A1033E; 8:132897745-132897745 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell | Substitution - Missense |
c.8061C>A; p.D2687E; 8:133133533-133133533 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3071C>T; p.S1024L; 8:132897718-132897718 |
skin | malignant_melanoma | Substitution - Missense |
c.4580G>T; p.G1527V; 8:132923389-132923389 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.4276C>T; p.Q1426*; 8:132913163-132913163 |
skin; trunk | malignant_melanoma | Substitution - Nonsense |
c.4825G>A; p.E1609K; 8:132933569-132933569 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2502G>A; p.P834P; 8:132888309-132888309 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2626C>A; p.L876I; 8:132888433-132888433 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6888G>A; p.A2296A; 8:133022002-133022002 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8048delC; p.W2685fs*26; 8:133133520-133133520 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.8048delC; p.W2685fs*26; 8:133133520-133133520 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6567C>A; p.I2189I; 8:133017782-133017782 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8048delC; p.W2685fs*26; 8:133133520-133133520 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5839C>T; p.P1947S; 8:132967946-132967946 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7563G>A; p.K2521K; 8:133096364-133096364 |
liver | carcinoma | Substitution - coding silent |
c.5120C>A; p.P1707H; 8:132941429-132941429 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2411T>C; p.V804A; 8:132888218-132888218 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2687G>A; p.R896Q; 8:132888494-132888494 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3281C>T; p.S1094F; 8:132898861-132898861 |
skin | malignant_melanoma | Substitution - Missense |
c.450G>T; p.G150G; 8:132871523-132871523 |
thyroid | carcinoma | Substitution - coding silent |
c.1427T>G; p.F476C; 8:132886799-132886799 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.203G>T; p.R68L; 8:132869755-132869755 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3606C>T; p.R1202R; 8:132901525-132901525 |
pancreas | carcinoma | Substitution - coding silent |
c.260G>A; p.G87E; 8:132869812-132869812 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7258C>T; p.P2420S; 8:133095062-133095062 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4318T>C; p.C1440R; 8:132913205-132913205 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3606C>T; p.R1202R; 8:132901525-132901525 |
pancreas | carcinoma | Substitution - coding silent |
c.1680G>A; p.E560E; 8:132887052-132887052 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4662G>T; p.W1554C; 8:132923471-132923471 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1680G>A; p.E560E; 8:132887052-132887052 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4029C>A; p.S1343S; 8:132911403-132911403 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1680G>A; p.E560E; 8:132887052-132887052 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1856C>G; p.S619*; 8:132887228-132887228 |
breast | carcinoma | Substitution - Nonsense |
c.4506T>C; p.A1502A; 8:132919503-132919503 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3032C>T; p.S1011F; 8:132897679-132897679 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.6196C>T; p.P2066S; 8:132972738-132972738 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.8239G>T; p.A2747S; 8:133134726-133134726 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4506T>C; p.A1502A; 8:132919503-132919503 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6275C>A; p.S2092*; 8:133011913-133011913 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.5724G>A; p.E1908E; 8:132967831-132967831 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1004C>T; p.P335L; 8:132882928-132882928 |
skin | malignant_melanoma | Substitution - Missense |
c.7110C>T; p.I2370I; 8:133029894-133029894 |
skin | malignant_melanoma | Substitution - coding silent |
c.3455T>C; p.L1152P; 8:132901374-132901374 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4310G>A; p.W1437*; 8:132913197-132913197 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.7248C>T; p.S2416S; 8:133095052-133095052 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4862C>T; p.T1621M; 8:132933606-132933606 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2443G>A; p.G815R; 8:132888250-132888250 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.377A>G; p.Y126C; 8:132871450-132871450 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3040G>A; p.D1014N; 8:132897687-132897687 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.5149C>G; p.L1717V; 8:132941458-132941458 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2449T>C; p.F817L; 8:132888256-132888256 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.643C>T; p.P215S; 8:132881867-132881867 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2029C>T; p.P677S; 8:132887401-132887401 |
skin | malignant_melanoma | Substitution - Missense |
c.2374A>G; p.N792D; 8:132888181-132888181 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5570C>T; p.S1857F; 8:132966581-132966581 |
skin | malignant_melanoma | Substitution - Missense |
c.3040G>A; p.D1014N; 8:132897687-132897687 |
pancreas | carcinoma | Substitution - Missense |
c.1524C>T; p.S508S; 8:132886896-132886896 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1333C>T; p.R445*; 8:132886705-132886705 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4074C>T; p.T1358T; 8:132911448-132911448 |
skin | malignant_melanoma | Substitution - coding silent |
c.5089T>A; p.F1697I; 8:132941398-132941398 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6796C>T; p.Q2266*; 8:133019615-133019615 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.7864C>T; p.L2622L; 8:133131813-133131813 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - coding silent |
c.2949G>A; p.A983A; 8:132893877-132893877 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2949G>A; p.A983A; 8:132893877-132893877 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2491G>T; p.D831Y; 8:132888298-132888298 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.8208G>A; p.Q2736Q; 8:133134695-133134695 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.6987C>T; p.I2329I; 8:133022101-133022101 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4622C>T; p.A1541V; 8:132923431-132923431 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1538G>A; p.G513E; 8:132886910-132886910 |
skin | malignant_melanoma | Substitution - Missense |
c.1538G>A; p.G513E; 8:132886910-132886910 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7383C>A; p.V2461V; 8:133095187-133095187 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1364G>A; p.R455H; 8:132886736-132886736 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8112C>T; p.L2704L; 8:133133584-133133584 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.6222delT; p.C2076fs*77; 8:132983372-132983372 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.60T>C; p.N20N; 8:132867060-132867060 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.4987C>T; p.Q1663*; 8:132935810-132935810 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5263C>T; p.P1755S; 8:132948805-132948805 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7135C>T; p.R2379C; 8:133029919-133029919 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.84C>T; p.A28A; 8:132868131-132868131 |
thyroid | carcinoma | Substitution - coding silent |
c.324C>A; p.Y108*; 8:132871397-132871397 |
breast | carcinoma | Substitution - Nonsense |
c.3098C>T; p.A1033V; 8:132897745-132897745 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.201_202CC>AG; p.R68G; 8:132869753-132869754 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4933-1G>T; p.?; 8:132935755-132935755 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.7135C>T; p.R2379C; 8:133029919-133029919 |
liver | carcinoma | Substitution - Missense |
c.5995C>T; p.R1999W; 8:132971813-132971813 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.7135C>T; p.R2379C; 8:133029919-133029919 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.90C>T; p.P30P; 8:132868137-132868137 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - coding silent |
c.6200T>A; p.I2067N; 8:132983350-132983350 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7135C>T; p.R2379C; 8:133029919-133029919 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5972A>G; p.N1991S; 8:132969566-132969566 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.7135C>T; p.R2379C; 8:133029919-133029919 |
liver | carcinoma | Substitution - Missense |
c.783_784insG; p.F262fs*12; 8:132882506-132882507 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.5256G>A; p.L1752L; 8:132948798-132948798 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7593C>T; p.G2531G; 8:133113442-133113442 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.36C>T; p.A12A; 8:132867036-132867036 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.7593C>T; p.G2531G; 8:133113442-133113442 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.7540G>A; p.D2514N; 8:133096341-133096341 |
skin | malignant_melanoma | Substitution - Missense |
c.8026C>T; p.R2676W; 8:133133498-133133498 |
breast | carcinoma | Substitution - Missense |
c.7540G>A; p.D2514N; 8:133096341-133096341 |
skin | malignant_melanoma | Substitution - Missense |
c.7540G>A; p.D2514N; 8:133096341-133096341 |
skin | malignant_melanoma | Substitution - Missense |
c.7540G>A; p.D2514N; 8:133096341-133096341 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4967G>A; p.S1656N; 8:132935790-132935790 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6020C>T; p.T2007I; 8:132971838-132971838 |
pancreas | carcinoma | Substitution - Missense |
c.3421A>T; p.S1141C; 8:132900327-132900327 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.856G>A; p.A286T; 8:132882579-132882579 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8203G>A; p.G2735R; 8:133134690-133134690 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1603C>T; p.P535S; 8:132886975-132886975 |
skin | malignant_melanoma | Substitution - Missense |
c.8131A>T; p.K2711*; 8:133133603-133133603 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4304G>T; p.R1435M; 8:132913191-132913191 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4000C>T; p.Q1334*; 8:132908338-132908338 |
skin | malignant_melanoma | Substitution - Nonsense |
c.3278G>T; p.R1093I; 8:132898858-132898858 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5188C>T; p.R1730C; 8:132941497-132941497 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4068T>C; p.C1356C; 8:132911442-132911442 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3705G>A; p.S1235S; 8:132906758-132906758 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4602G>A; p.K1534K; 8:132923411-132923411 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1361C>G; p.A454G; 8:132886733-132886733 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.3705G>A; p.S1235S; 8:132906758-132906758 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3669G>T; p.E1223D; 8:132906722-132906722 |
breast | carcinoma | Substitution - Missense |
c.2220G>A; p.R740R; 8:132888027-132888027 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7138G>A; p.V2380M; 8:133029922-133029922 |
prostate | carcinoma | Substitution - Missense |
c.145G>A; p.V49M; 8:132868192-132868192 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5854C>T; p.R1952W; 8:132967961-132967961 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1759G>C; p.V587L; 8:132887131-132887131 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.145G>A; p.V49M; 8:132868192-132868192 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.5214C>A; p.V1738V; 8:132941523-132941523 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2036G>T; p.G679V; 8:132887408-132887408 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3511G>A; p.A1171T; 8:132901430-132901430 |
skin; hand | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1118C>T; p.S373F; 8:132886490-132886490 |
breast | carcinoma | Substitution - Missense |
c.7663C>T; p.R2555C; 8:133113512-133113512 |
NS | NS | Substitution - Missense |
c.5473G>T; p.D1825Y; 8:132962999-132962999 |
prostate | adenoma | Substitution - Missense |
c.2645C>T; p.S882F; 8:132888452-132888452 |
skin | malignant_melanoma | Substitution - Missense |
c.1900G>A; p.G634R; 8:132887272-132887272 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.555G>C; p.A185A; 8:132873138-132873138 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.206C>T; p.S69F; 8:132869758-132869758 |
skin | malignant_melanoma | Substitution - Missense |
c.4942G>A; p.A1648T; 8:132935765-132935765 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1268G>T; p.R423L; 8:132886640-132886640 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3728A>G; p.Q1243R; 8:132906781-132906781 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.206C>T; p.S69F; 8:132869758-132869758 |
skin | malignant_melanoma | Substitution - Missense |
c.4684G>T; p.D1562Y; 8:132923493-132923493 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5485C>A; p.R1829R; 8:132963011-132963011 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3312C>T; p.F1104F; 8:132898892-132898892 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1188G>A; p.W396*; 8:132886560-132886560 |
liver | carcinoma | Substitution - Nonsense |
c.7501T>C; p.W2501R; 8:133096302-133096302 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2002C>T; p.R668C; 8:132887374-132887374 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7501T>C; p.W2501R; 8:133096302-133096302 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.6866C>T; p.P2289L; 8:133019685-133019685 |
skin | malignant_melanoma | Substitution - Missense |
c.6160G>C; p.E2054Q; 8:132972702-132972702 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1188G>A; p.W396*; 8:132886560-132886560 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.3848G>A; p.R1283Q; 8:132908186-132908186 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4932+10G>A; p.?; 8:132933686-132933686 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.4468T>G; p.C1490G; 8:132919465-132919465 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.4575G>C; p.Q1525H; 8:132923384-132923384 |
prostate | carcinoma | Substitution - Missense |
c.7414G>A; p.V2472M; 8:133096215-133096215 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7465C>T; p.R2489C; 8:133096266-133096266 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1253A>G; p.D418G; 8:132886625-132886625 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4872G>T; p.E1624D; 8:132933616-132933616 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.8227G>A; p.E2743K; 8:133134714-133134714 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5814C>A; p.G1938G; 8:132967921-132967921 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1253A>G; p.D418G; 8:132886625-132886625 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2451C>A; p.F817L; 8:132888258-132888258 |
liver | carcinoma | Substitution - Missense |
c.7472C>T; p.P2491L; 8:133096273-133096273 |
skin | malignant_melanoma | Substitution - Missense |
c.555G>A; p.A185A; 8:132873138-132873138 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4588C>T; p.R1530*; 8:132923397-132923397 |
pancreas | carcinoma | Substitution - Nonsense |
c.4588C>T; p.R1530*; 8:132923397-132923397 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.6970G>A; p.A2324T; 8:133022084-133022084 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2584C>T; p.L862F; 8:132888391-132888391 |
skin | malignant_melanoma | Substitution - Missense |
c.1713C>T; p.L571L; 8:132887085-132887085 |
skin | malignant_melanoma | Substitution - coding silent |
c.1423A>G; p.K475E; 8:132886795-132886795 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2451C>A; p.F817L; 8:132888258-132888258 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.5334T>G; p.P1778P; 8:132948876-132948876 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.597C>T; p.T199T; 8:132873180-132873180 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1863G>A; p.T621T; 8:132887235-132887235 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3855G>A; p.Q1285Q; 8:132908193-132908193 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1169C>T; p.S390F; 8:132886541-132886541 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1300T>G; p.S434A; 8:132886672-132886672 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3324C>T; p.C1108C; 8:132898904-132898904 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.766G>A; p.E256K; 8:132882489-132882489 |
skin | malignant_melanoma | Substitution - Missense |
c.5254C>T; p.L1752L; 8:132948796-132948796 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6374C>T; p.A2125V; 8:133012012-133012012 |
skin | malignant_melanoma | Substitution - Missense |
c.3359C>T; p.S1120L; 8:132900265-132900265 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3748C>T; p.R1250C; 8:132906801-132906801 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.3477G>C; p.R1159S; 8:132901396-132901396 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.352C>T; p.P118S; 8:132871425-132871425 |
skin; ankle | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.4248G>T; p.T1416T; 8:132913135-132913135 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1420G>C; p.G474R; 8:132886792-132886792 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.352C>T; p.P118S; 8:132871425-132871425 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.352C>T; p.P118S; 8:132871425-132871425 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8235G>T; p.L2745F; 8:133134722-133134722 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.8094G>C; p.K2698N; 8:133133566-133133566 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.402G>T; p.Q134H; 8:132871475-132871475 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7679C>T; p.A2560V; 8:133113528-133113528 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3288A>T; p.E1096D; 8:132898868-132898868 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.7007G>A; p.R2336Q; 8:133022121-133022121 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.7007G>A; p.R2336Q; 8:133022121-133022121 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3282C>T; p.S1094S; 8:132898862-132898862 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.505C>T; p.R169C; 8:132873088-132873088 |
skin | malignant_melanoma | Substitution - Missense |
c.6083A>C; p.N2028T; 8:132972625-132972625 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.275G>T; p.C92F; 8:132871348-132871348 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4033C>A; p.P1345T; 8:132911407-132911407 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.505C>T; p.R169C; 8:132873088-132873088 |
skin | malignant_melanoma | Substitution - Missense |
c.8140G>T; p.D2714Y; 8:133133612-133133612 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.7461C>T; p.F2487F; 8:133096262-133096262 |
skin | malignant_melanoma | Substitution - coding silent |
c.6015C>A; p.C2005*; 8:132971833-132971833 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.7438G>A; p.G2480S; 8:133096239-133096239 |
skin | malignant_melanoma | Substitution - Missense |
c.7589G>A; p.R2530Q; 8:133113438-133113438 |
thyroid | other; neoplasm | Substitution - Missense |
c.7589G>A; p.R2530Q; 8:133113438-133113438 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.6970G>T; p.A2324S; 8:133022084-133022084 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.7998-1G>T; p.?; 8:133133469-133133469 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.6130C>A; p.R2044S; 8:132972672-132972672 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4192C>T; p.R1398C; 8:132913079-132913079 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4192C>T; p.R1398C; 8:132913079-132913079 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7812C>A; p.A2604A; 8:133116666-133116666 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1489_1490insTCAG; p.F500fs*38; 8:132886861-132886862 |
oesophagus | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4201G>T; p.D1401Y; 8:132913088-132913088 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5560G>T; p.E1854*; 8:132966571-132966571 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.863A>C; p.Q288P; 8:132882586-132882586 |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; large_cell | Substitution - Missense |
c.4268G>A; p.R1423H; 8:132913155-132913155 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1243C>A; p.L415I; 8:132886615-132886615 |
oesophagus | carcinoma | Substitution - Missense |
c.6679C>A; p.Q2227K; 8:133017894-133017894 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2359C>T; p.R787*; 8:132888166-132888166 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4180G>A; p.D1394N; 8:132913067-132913067 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5969C>A; p.S1990Y; 8:132969563-132969563 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.887G>A; p.R296Q; 8:132882610-132882610 |
skin | malignant_melanoma | Substitution - Missense |
c.7908C>T; p.F2636F; 8:133131857-133131857 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1204G>T; p.A402S; 8:132886576-132886576 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1684_1685insA; p.N563fs*35; 8:132887056-132887057 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.7408C>T; p.L2470L; 8:133096209-133096209 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2533G>A; p.V845I; 8:132888340-132888340 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1870G>A; p.G624R; 8:132887242-132887242 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1636A>G; p.K546E; 8:132887008-132887008 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3162G>T; p.E1054D; 8:132898191-132898191 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7803A>G; p.A2601A; 8:133116657-133116657 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.7774C>T; p.P2592S; 8:133116628-133116628 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1446G>T; p.Q482H; 8:132886818-132886818 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2229G>T; p.Q743H; 8:132888036-132888036 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1535G>C; p.G512A; 8:132886907-132886907 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7162G>C; p.G2388R; 8:133029946-133029946 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7437G>A; p.W2479*; 8:133096238-133096238 |
skin | malignant_melanoma | Substitution - Nonsense |
c.520_521GG>AA; p.G174K; 8:132873103-132873104 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6662C>G; p.S2221*; 8:133017877-133017877 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Nonsense |
c.5185G>A; p.D1729N; 8:132941494-132941494 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7022G>T; p.G2341V; 8:133022136-133022136 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2364G>T; p.W788C; 8:132888171-132888171 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7405C>T; p.L2469F; 8:133096206-133096206 |
oesophagus | carcinoma | Substitution - Missense |
c.5848C>T; p.L1950L; 8:132967955-132967955 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.54G>A; p.S18S; 8:132867054-132867054 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1800A>G; p.E600E; 8:132887172-132887172 |
liver | carcinoma | Substitution - coding silent |
c.54G>A; p.S18S; 8:132867054-132867054 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1701C>T; p.F567F; 8:132887073-132887073 |
skin | malignant_melanoma | Substitution - coding silent |
c.8119C>T; p.R2707*; 8:133133591-133133591 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2127G>C; p.E709D; 8:132887499-132887499 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1723C>T; p.P575S; 8:132887095-132887095 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2127G>C; p.E709D; 8:132887499-132887499 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1345C>T; p.P449S; 8:132886717-132886717 |
skin | malignant_melanoma | Substitution - Missense |
c.2037C>T; p.G679G; 8:132887409-132887409 |
thyroid | carcinoma | Substitution - coding silent |
c.380C>T; p.A127V; 8:132871453-132871453 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4220C>T; p.S1407L; 8:132913107-132913107 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.4220C>T; p.S1407L; 8:132913107-132913107 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2127G>C; p.E709D; 8:132887499-132887499 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.6397G>C; p.E2133Q; 8:133012035-133012035 |
liver | carcinoma | Substitution - Missense |
c.6397G>C; p.E2133Q; 8:133012035-133012035 |
liver | carcinoma | Substitution - Missense |
c.6881C>A; p.P2294H; 8:133021995-133021995 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817G>T; p.E273*; 8:132882540-132882540 |
breast | carcinoma | Substitution - Nonsense |
c.4048T>C; p.S1350P; 8:132911422-132911422 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.263G>A; p.R88Q; 8:132869815-132869815 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7274G>T; p.S2425I; 8:133095078-133095078 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.6461G>C; p.C2154S; 8:133013663-133013663 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3610_3611delAC; p.T1204fs*7; 8:132901529-132901530 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1793T>G; p.V598G; 8:132887165-132887165 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4493C>T; p.T1498M; 8:132919490-132919490 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4653G>C; p.L1551L; 8:132923462-132923462 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5719G>A; p.A1907T; 8:132967826-132967826 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1065G>A; p.P355P; 8:132882989-132882989 |
liver | carcinoma | Substitution - coding silent |
c.1065G>A; p.P355P; 8:132882989-132882989 |
liver | carcinoma | Substitution - coding silent |
c.609G>A; p.M203I; 8:132873192-132873192 |
skin | malignant_melanoma | Substitution - Missense |
c.4746C>T; p.D1582D; 8:132929122-132929122 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1755C>T; p.I585I; 8:132887127-132887127 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7955C>T; p.S2652L; 8:133131904-133131904 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1020C>T; p.D340D; 8:132882944-132882944 |
large_intestine; rectum | adenoma | Substitution - coding silent |
c.4628G>C; p.C1543S; 8:132923437-132923437 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.5021C>T; p.P1674L; 8:132935844-132935844 |
skin | malignant_melanoma | Substitution - Missense |
c.6553C>T; p.R2185W; 8:133013755-133013755 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.7114G>T; p.G2372*; 8:133029898-133029898 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2499C>T; p.F833F; 8:132888306-132888306 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6529C>T; p.R2177C; 8:133013731-133013731 |
skin | malignant_melanoma | Substitution - Missense |
c.6529C>T; p.R2177C; 8:133013731-133013731 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7862+7C>T; p.?; 8:133116723-133116723 |
pancreas | carcinoma | Unknown |
c.7195G>C; p.A2399P; 8:133029979-133029979 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5972A>T; p.N1991I; 8:132969566-132969566 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5972A>T; p.N1991I; 8:132969566-132969566 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.5021C>T; p.P1674L; 8:132935844-132935844 |
skin | malignant_melanoma | Substitution - Missense |
c.5992C>T; p.R1998*; 8:132971810-132971810 |
breast | carcinoma | Substitution - Nonsense |
c.2571C>T; p.P857P; 8:132888378-132888378 |
skin | malignant_melanoma | Substitution - coding silent |
c.1922C>T; p.S641F; 8:132887294-132887294 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.962G>A; p.R321Q; 8:132882886-132882886 |
breast | carcinoma | Substitution - Missense |
c.4907A>G; p.N1636S; 8:132933651-132933651 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7111C>T; p.R2371*; 8:133029895-133029895 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.6819G>A; p.T2273T; 8:133019638-133019638 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7111C>T; p.R2371*; 8:133029895-133029895 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3416C>T; p.S1139L; 8:132900322-132900322 |
breast | carcinoma | Substitution - Missense |
c.7161C>T; p.G2387G; 8:133029945-133029945 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.6819G>A; p.T2273T; 8:133019638-133019638 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2053C>T; p.P685S; 8:132887425-132887425 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6180C>T; p.F2060F; 8:132972722-132972722 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5411C>T; p.P1804L; 8:132961017-132961017 |
skin | malignant_melanoma | Substitution - Missense |
c.6006G>A; p.A2002A; 8:132971824-132971824 |
skin | malignant_melanoma | Substitution - coding silent |
c.434G>A; p.G145E; 8:132871507-132871507 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.434G>A; p.G145E; 8:132871507-132871507 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.2340G>T; p.Q780H; 8:132888147-132888147 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.4505C>T; p.A1502V; 8:132919502-132919502 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.434G>A; p.G145E; 8:132871507-132871507 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2340G>T; p.Q780H; 8:132888147-132888147 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.6177C>T; p.P2059P; 8:132972719-132972719 |
skin | malignant_melanoma | Substitution - coding silent |
c.135A>C; p.Q45H; 8:132868182-132868182 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.903T>C; p.C301C; 8:132882827-132882827 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.8075C>A; p.A2692D; 8:133133547-133133547 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3035C>T; p.P1012L; 8:132897682-132897682 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4379-7T>C; p.?; 8:132919369-132919369 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.903T>C; p.C301C; 8:132882827-132882827 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.4038C>A; p.V1346V; 8:132911412-132911412 |
ovary | other; neoplasm | Substitution - coding silent |
c.813C>T; p.F271F; 8:132882536-132882536 |
skin | malignant_melanoma | Substitution - coding silent |
c.6562+1G>A; p.?; 8:133013765-133013765 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.3328G>C; p.E1110Q; 8:132898908-132898908 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5250G>T; p.G1750G; 8:132948792-132948792 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4038C>A; p.V1346V; 8:132911412-132911412 |
ovary | other; neoplasm | Substitution - coding silent |
c.4323G>C; p.S1441S; 8:132913210-132913210 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5309A>G; p.E1770G; 8:132948851-132948851 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3025C>T; p.R1009C; 8:132897672-132897672 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2543C>T; p.A848V; 8:132888350-132888350 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.4142C>T; p.P1381L; 8:132911516-132911516 |
skin | malignant_melanoma | Substitution - Missense |
c.7921G>T; p.E2641*; 8:133131870-133131870 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.622G>T; p.V208F; 8:132873205-132873205 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.6046C>T; p.Q2016*; 8:132971864-132971864 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.3840C>T; p.A1280A; 8:132906893-132906893 |
skin | malignant_melanoma | Substitution - coding silent |
c.3704C>T; p.S1235L; 8:132906757-132906757 |
skin | malignant_melanoma | Substitution - Missense |
c.7707C>T; p.S2569S; 8:133113556-133113556 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1589C>A; p.S530Y; 8:132886961-132886961 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6709C>T; p.P2237S; 8:133017924-133017924 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.4817-1G>T; p.?; 8:132933560-132933560 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.295C>A; p.Q99K; 8:132871368-132871368 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.8221G>A; p.E2741K; 8:133134708-133134708 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1434G>T; p.V478V; 8:132886806-132886806 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1967C>T; p.P656L; 8:132887339-132887339 |
skin | malignant_melanoma | Substitution - Missense |
c.5389G>T; p.E1797*; 8:132948931-132948931 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4798G>A; p.V1600M; 8:132929174-132929174 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4798G>A; p.V1600M; 8:132929174-132929174 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3637C>T; p.P1213S; 8:132906690-132906690 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1261C>T; p.L421F; 8:132886633-132886633 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.6258G>A; p.E2086E; 8:132983408-132983408 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3221C>T; p.P1074L; 8:132898801-132898801 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5118C>T; p.N1706N; 8:132941427-132941427 |
skin; upper_leg | malignant_melanoma | Substitution - coding silent |
c.2296G>A; p.D766N; 8:132888103-132888103 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1261C>T; p.L421F; 8:132886633-132886633 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4825G>C; p.E1609Q; 8:132933569-132933569 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.476G>A; p.R159Q; 8:132871549-132871549 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7412C>T; p.A2471V; 8:133096213-133096213 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2913C>G; p.G971G; 8:132893841-132893841 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2931G>A; p.P977P; 8:132893859-132893859 |
stomach | adenocarcinoma | Substitution - coding silent |
c.7734G>A; p.R2578R; 8:133113583-133113583 |
skin | malignant_melanoma | Substitution - coding silent |
c.2503G>A; p.V835M; 8:132888310-132888310 |
liver | carcinoma | Substitution - Missense |
c.3400G>C; p.E1134Q; 8:132900306-132900306 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.7754+1G>A; p.?; 8:133113604-133113604 |
skin | malignant_melanoma | Unknown |
c.277C>A; p.L93M; 8:132871350-132871350 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2503G>A; p.V835M; 8:132888310-132888310 |
liver | carcinoma | Substitution - Missense |
c.486G>A; p.R162R; 8:132873069-132873069 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1665A>C; p.E555D; 8:132887037-132887037 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1232C>T; p.T411M; 8:132886604-132886604 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3226A>T; p.T1076S; 8:132898806-132898806 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4795C>T; p.P1599S; 8:132929171-132929171 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2743C>T; p.P915S; 8:132888550-132888550 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5341A>T; p.T1781S; 8:132948883-132948883 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1564C>T; p.L522F; 8:132886936-132886936 |
skin | malignant_melanoma | Substitution - Missense |
c.1693C>G; p.L565V; 8:132887065-132887065 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5223G>C; p.Q1741H; 8:132941532-132941532 |
breast | carcinoma | Substitution - Missense |
c.1749T>C; p.H583H; 8:132887121-132887121 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7249G>A; p.A2417T; 8:133095053-133095053 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1395G>T; p.K465N; 8:132886767-132886767 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3360G>A; p.S1120S; 8:132900266-132900266 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.464G>A; p.G155E; 8:132871537-132871537 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.596C>T; p.T199I; 8:132873179-132873179 |
skin | malignant_melanoma | Substitution - Missense |
c.2628C>A; p.L876L; 8:132888435-132888435 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.464G>A; p.G155E; 8:132871537-132871537 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5383G>T; p.D1795Y; 8:132948925-132948925 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3283C>A; p.Q1095K; 8:132898863-132898863 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4440C>A; p.F1480L; 8:132919437-132919437 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1399C>G; p.L467V; 8:132886771-132886771 |
breast | carcinoma | Substitution - Missense |
c.4551C>T; p.N1517N; 8:132923360-132923360 |
liver | carcinoma | Substitution - coding silent |
c.8269A>C; p.S2757R; 8:133134756-133134756 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3804C>T; p.S1268S; 8:132906857-132906857 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4551C>T; p.N1517N; 8:132923360-132923360 |
liver | carcinoma | Substitution - coding silent |
c.3611delC; p.G1206fs*57; 8:132901530-132901530 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.259G>A; p.G87R; 8:132869811-132869811 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.6622C>T; p.R2208W; 8:133017837-133017837 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.6622C>T; p.R2208W; 8:133017837-133017837 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.7632G>A; p.Q2544Q; 8:133113481-133113481 |
skin | malignant_melanoma | Substitution - coding silent |
c.6622C>T; p.R2208W; 8:133017837-133017837 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1638G>A; p.K546K; 8:132887010-132887010 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3293C>A; p.P1098Q; 8:132898873-132898873 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.890G>A; p.C297Y; 8:132882814-132882814 |
skin | malignant_melanoma | Substitution - Missense |
c.6850C>A; p.L2284I; 8:133019669-133019669 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4323G>T; p.S1441S; 8:132913210-132913210 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4780C>T; p.P1594S; 8:132929156-132929156 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.4394G>A; p.G1465E; 8:132919391-132919391 |
skin | malignant_melanoma | Substitution - Missense |
c.5092C>T; p.Q1698*; 8:132941401-132941401 |
skin | malignant_melanoma | Substitution - Nonsense |
c.790_791GG>TC; p.G264S; 8:132882513-132882514 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4780C>T; p.P1594S; 8:132929156-132929156 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4193G>A; p.R1398H; 8:132913080-132913080 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.5046A>C; p.Q1682H; 8:132941355-132941355 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2882A>T; p.K961M; 8:132893810-132893810 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2882A>T; p.K961M; 8:132893810-132893810 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4263C>T; p.T1421T; 8:132913150-132913150 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3368G>A; p.G1123D; 8:132900274-132900274 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2882A>T; p.K961M; 8:132893810-132893810 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.490T>G; p.C164G; 8:132873073-132873073 |
thyroid | carcinoma | Substitution - Missense |
c.4645C>T; p.R1549W; 8:132923454-132923454 |
breast | carcinoma | Substitution - Missense |
c.127C>T; p.L43L; 8:132868174-132868174 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.7281G>T; p.E2427D; 8:133095085-133095085 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7082C>T; p.A2361V; 8:133029866-133029866 |
pancreas | carcinoma | Substitution - Missense |
c.7878G>A; p.A2626A; 8:133131827-133131827 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3690G>A; p.L1230L; 8:132906743-132906743 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4398C>T; p.S1466S; 8:132919395-132919395 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8199G>A; p.K2733K; 8:133134686-133134686 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1049G>A; p.R350Q; 8:132882973-132882973 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1825G>A; p.E609K; 8:132887197-132887197 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3737A>C; p.Q1246P; 8:132906790-132906790 |
thyroid | carcinoma | Substitution - Missense |