General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 9462 |
Name | RASAL2 |
Synonymous | RAS protein activator like 2;RASAL2;RAS protein activator like 2 |
Definition | RAS protein activator-like 2|Ras protein activator like 1|ras GTPase-activating protein nGAP |
Position | 1q24 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.17. |
The copy number variations for various cancers | Top |
The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.954C>A; p.F318L; 1:178442755-178442755 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2685C>T; p.P895P; 1:178458010-178458010 |
skin | malignant_melanoma | Substitution - coding silent |
c.2147A>T; p.Q716L; 1:178454638-178454638 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1843G>A; p.A615T; 1:178452540-178452540 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1249A>G; p.K417E; 1:178443050-178443050 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.3044C>T; p.P1015L; 1:178458369-178458369 |
skin | malignant_melanoma | Substitution - Missense |
c.1527G>T; p.E509D; 1:178445616-178445616 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3637G>A; p.D1213N; 1:178467413-178467413 |
skin | malignant_melanoma | Substitution - Missense |
c.1055C>T; p.P352L; 1:178442856-178442856 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1578G>C; p.E526D; 1:178451575-178451575 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2856G>A; p.K952K; 1:178458181-178458181 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2627T>C; p.I876T; 1:178457952-178457952 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1555T>A; p.Y519N; 1:178445644-178445644 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2434C>G; p.Q812E; 1:178457759-178457759 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1659T>C; p.H553H; 1:178451656-178451656 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.22G>A; p.D8N; 1:178094568-178094568 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.358G>T; p.E120*; 1:178300073-178300073 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.957C>T; p.C319C; 1:178442758-178442758 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.957C>T; p.C319C; 1:178442758-178442758 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3245C>T; p.T1082I; 1:178464303-178464303 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.936C>T; p.A312A; 1:178442737-178442737 |
skin | malignant_melanoma | Substitution - coding silent |
c.1907C>T; p.T636I; 1:178452604-178452604 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1907C>T; p.T636I; 1:178452604-178452604 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1219G>A; p.G407R; 1:178443020-178443020 |
skin | malignant_melanoma | Substitution - Missense |
c.604C>T; p.R202C; 1:178420604-178420604 |
skin | malignant_melanoma | Substitution - Missense |
c.3771C>T; p.S1257S; 1:178473200-178473200 |
skin | malignant_melanoma | Substitution - coding silent |
c.1030G>A; p.E344K; 1:178442831-178442831 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2637G>A; p.L879L; 1:178457962-178457962 |
liver | carcinoma | Substitution - coding silent |
c.2169C>A; p.S723S; 1:178456711-178456711 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.601C>T; p.L201F; 1:178420601-178420601 |
skin | malignant_melanoma | Substitution - Missense |
c.1718+1G>A; p.?; 1:178451716-178451716 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1030G>A; p.E344K; 1:178442831-178442831 |
skin | malignant_melanoma | Substitution - Missense |
c.954C>G; p.F318L; 1:178442755-178442755 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1305A>C; p.A435A; 1:178443106-178443106 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1527G>C; p.E509D; 1:178445616-178445616 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1758G>A; p.W586*; 1:178452455-178452455 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1297G>T; p.E433*; 1:178443098-178443098 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2766T>C; p.I922I; 1:178458091-178458091 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2803G>A; p.E935K; 1:178458128-178458128 |
breast | carcinoma | Substitution - Missense |
c.1793T>G; p.I598S; 1:178452490-178452490 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.850C>T; p.R284C; 1:178441624-178441624 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.280C>T; p.P94S; 1:178299995-178299995 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1070T>G; p.I357S; 1:178442871-178442871 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1370A>G; p.N457S; 1:178443171-178443171 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2123C>T; p.S708F; 1:178454614-178454614 |
skin | malignant_melanoma | Substitution - Missense |
c.2705A>G; p.Q902R; 1:178458030-178458030 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3083G>T; p.G1028V; 1:178458408-178458408 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.923delC; p.K309fs*69; 1:178442724-178442724 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.1789G>A; p.D597N; 1:178452486-178452486 |
skin | malignant_melanoma | Substitution - Missense |
c.2168C>T; p.S723F; 1:178456710-178456710 |
skin | malignant_melanoma | Substitution - Missense |
c.516C>A; p.F172L; 1:178420516-178420516 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2503C>T; p.R835W; 1:178457828-178457828 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.904C>T; p.R302C; 1:178442705-178442705 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1729C>T; p.R577C; 1:178452426-178452426 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2989C>T; p.Q997*; 1:178458314-178458314 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.904C>T; p.R302C; 1:178442705-178442705 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3146G>A; p.R1049Q; 1:178458471-178458471 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.904C>T; p.R302C; 1:178442705-178442705 |
skin | malignant_melanoma | Substitution - Missense |
c.1044C>T; p.F348F; 1:178442845-178442845 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3001C>A; p.R1001R; 1:178458326-178458326 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3086G>A; p.S1029N; 1:178458411-178458411 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.333G>A; p.L111L; 1:178300048-178300048 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2080G>C; p.D694H; 1:178454571-178454571 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3236A>T; p.D1079V; 1:178464294-178464294 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.333G>A; p.L111L; 1:178300048-178300048 |
thyroid | carcinoma | Substitution - coding silent |
c.1813G>A; p.A605T; 1:178452510-178452510 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1855C>T; p.P619S; 1:178452552-178452552 |
skin | malignant_melanoma | Substitution - Missense |
c.1097delA; p.K368fs*10; 1:178442898-178442898 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1097delA; p.K368fs*10; 1:178442898-178442898 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1097delA; p.K368fs*10; 1:178442898-178442898 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1104_1105insA; p.D372fs*4; 1:178442905-178442906 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1111_1112insA; p.D372fs*4; 1:178442912-178442913 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.454A>T; p.T152S; 1:178390150-178390150 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1104_1105insA; p.D372fs*4; 1:178442905-178442906 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.473C>T; p.S158F; 1:178390169-178390169 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3529G>T; p.D1177Y; 1:178466094-178466094 |
breast | carcinoma | Substitution - Missense |
c.595_596CC>TT; p.P199L; 1:178420595-178420596 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1349A>T; p.E450V; 1:178443150-178443150 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1707C>G; p.I569M; 1:178451704-178451704 |
lung | carcinoid-endocrine_tumour; atypical | Substitution - Missense |
c.1895G>A; p.R632H; 1:178452592-178452592 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1580T>G; p.F527C; 1:178451577-178451577 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3655A>G; p.I1219V; 1:178473084-178473084 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.384A>G; p.P128P; 1:178300099-178300099 |
liver | carcinoma | Substitution - coding silent |
c.384A>G; p.P128P; 1:178300099-178300099 |
liver | carcinoma | Substitution - coding silent |
c.1825C>T; p.L609F; 1:178452522-178452522 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1699A>T; p.K567*; 1:178451696-178451696 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1650G>C; p.L550L; 1:178451647-178451647 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.912G>A; p.W304*; 1:178442713-178442713 |
pancreas | carcinoma | Substitution - Nonsense |
c.912G>A; p.W304*; 1:178442713-178442713 |
pancreas | carcinoid-endocrine_tumour | Substitution - Nonsense |
c.3065C>T; p.A1022V; 1:178458390-178458390 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2207C>A; p.P736H; 1:178456749-178456749 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2468delA; p.K824fs*40; 1:178457793-178457793 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.958G>A; p.E320K; 1:178442759-178442759 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.886C>T; p.R296*; 1:178442687-178442687 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2927G>A; p.R976K; 1:178458252-178458252 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2729C>T; p.S910L; 1:178458054-178458054 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1827C>T; p.L609L; 1:178452524-178452524 |
skin | malignant_melanoma | Substitution - coding silent |
c.3787G>T; p.E1263*; 1:178473216-178473216 |
prostate | adenoma | Substitution - Nonsense |
c.2144C>T; p.S715F; 1:178454635-178454635 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1625C>T; p.P542L; 1:178451622-178451622 |
skin | malignant_melanoma | Substitution - Missense |
c.274G>A; p.E92K; 1:178283689-178283689 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1625C>T; p.P542L; 1:178451622-178451622 |
skin | malignant_melanoma | Substitution - Missense |
c.2291C>T; p.S764F; 1:178456833-178456833 |
skin | malignant_melanoma | Substitution - Missense |
c.3034G>C; p.A1012P; 1:178458359-178458359 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.827G>C; p.R276T; 1:178441601-178441601 |
breast | carcinoma | Substitution - Missense |
c.358G>A; p.E120K; 1:178300073-178300073 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3776C>T; p.T1259M; 1:178473205-178473205 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1105delA; p.K371fs*7; 1:178442906-178442906 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1105delA; p.K371fs*7; 1:178442906-178442906 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1105delA; p.K371fs*7; 1:178442906-178442906 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1105delA; p.K371fs*7; 1:178442906-178442906 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1105delA; p.K371fs*7; 1:178442906-178442906 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.2206C>T; p.P736S; 1:178456748-178456748 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2206C>T; p.P736S; 1:178456748-178456748 |
skin | malignant_melanoma | Substitution - Missense |
c.2970A>G; p.P990P; 1:178458295-178458295 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2158-1G>T; p.?; 1:178456699-178456699 |
lung | carcinoma; adenocarcinoma | Unknown |
c.417A>G; p.E139E; 1:178390113-178390113 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.417A>G; p.E139E; 1:178390113-178390113 |
pancreas | carcinoma | Substitution - coding silent |
c.1576G>A; p.E526K; 1:178451573-178451573 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2212G>T; p.V738F; 1:178456754-178456754 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1166G>T; p.G389V; 1:178442967-178442967 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.238_239AC>TT; p.T80L; 1:178283653-178283654 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.549G>T; p.R183S; 1:178420549-178420549 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.307A>G; p.T103A; 1:178300022-178300022 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.220C>T; p.R74W; 1:178283635-178283635 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.374A>C; p.E125A; 1:178300089-178300089 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3495C>T; p.S1165S; 1:178466060-178466060 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1105_1106insA; p.D372fs*4; 1:178442906-178442907 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.2753T>C; p.L918P; 1:178458078-178458078 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2158-8C>A; p.?; 1:178456692-178456692 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.3726G>T; p.M1242I; 1:178473155-178473155 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.172C>T; p.R58C; 1:178283587-178283587 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3726G>T; p.M1242I; 1:178473155-178473155 |
stomach | adenocarcinoma | Substitution - Missense |
c.625C>T; p.R209C; 1:178439426-178439426 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.3593A>G; p.H1198R; 1:178467369-178467369 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1939C>A; p.L647M; 1:178452636-178452636 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.573C>T; p.D191D; 1:178420573-178420573 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3382G>A; p.E1128K; 1:178465947-178465947 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3188T>G; p.V1063G; 1:178458513-178458513 |
pancreas | carcinoma | Substitution - Missense |
c.230G>A; p.C77Y; 1:178283645-178283645 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3272C>T; p.A1091V; 1:178464330-178464330 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1112_1113insA; p.D372fs*4; 1:178442913-178442914 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.875A>G; p.D292G; 1:178442676-178442676 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.875A>G; p.D292G; 1:178442676-178442676 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.790G>A; p.G264R; 1:178441564-178441564 |
skin | malignant_melanoma | Substitution - Missense |
c.1942G>T; p.A648S; 1:178452639-178452639 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1741G>T; p.E581*; 1:178452438-178452438 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1526A>G; p.E509G; 1:178445615-178445615 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1526A>G; p.E509G; 1:178445615-178445615 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1078C>T; p.H360Y; 1:178442879-178442879 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.135G>T; p.W45C; 1:178094681-178094681 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2318C>T; p.S773F; 1:178456860-178456860 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1904G>A; p.R635Q; 1:178452601-178452601 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2221G>T; p.D741Y; 1:178456763-178456763 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.784T>C; p.L262L; 1:178441558-178441558 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.626G>A; p.R209H; 1:178439427-178439427 |
breast | carcinoma | Substitution - Missense |
c.3715C>T; p.R1239W; 1:178473144-178473144 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.549G>A; p.R183R; 1:178420549-178420549 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1480G>A; p.D494N; 1:178445569-178445569 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.868A>G; p.N290D; 1:178441642-178441642 |
ovary | other; neoplasm | Substitution - Missense |
c.2678G>A; p.R893K; 1:178458003-178458003 |
skin | malignant_melanoma | Substitution - Missense |
c.1937A>C; p.N646T; 1:178452634-178452634 |
breast | carcinoma | Substitution - Missense |
c.1615G>T; p.E539*; 1:178451612-178451612 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.940_941insA; p.K316fs*9; 1:178442741-178442742 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.1995delT; p.L667fs*1; 1:178454486-178454486 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.136G>A; p.V46I; 1:178094682-178094682 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.160C>T; p.P54S; 1:178283575-178283575 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.831C>G; p.D277E; 1:178441605-178441605 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3155C>T; p.S1052F; 1:178458480-178458480 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1193C>T; p.P398L; 1:178442994-178442994 |
skin | malignant_melanoma | Substitution - Missense |
c.374A>G; p.E125G; 1:178300089-178300089 |
liver | carcinoma | Substitution - Missense |
c.1193C>T; p.P398L; 1:178442994-178442994 |
skin | malignant_melanoma | Substitution - Missense |
c.374A>G; p.E125G; 1:178300089-178300089 |
liver | carcinoma | Substitution - Missense |
c.2949A>G; p.R983R; 1:178458274-178458274 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.213G>C; p.T71T; 1:178283628-178283628 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.599C>T; p.S200F; 1:178420599-178420599 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3002G>A; p.R1001Q; 1:178458327-178458327 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1573+2T>C; p.?; 1:178445664-178445664 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1465C>T; p.R489C; 1:178445554-178445554 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2828G>A; p.R943K; 1:178458153-178458153 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.545A>T; p.K182M; 1:178420545-178420545 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.173G>A; p.R58H; 1:178283588-178283588 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.3399C>A; p.S1133S; 1:178465964-178465964 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2389_2397delGACAACACA; p.N798_D800delNTD; 1:178457714-178457722 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.2389G>T; p.D797Y; 1:178457714-178457714 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3280C>G; p.L1094V; 1:178464338-178464338 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2632C>T; p.Q878*; 1:178457957-178457957 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.706G>C; p.G236R; 1:178439507-178439507 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.459A>C; p.S153S; 1:178390155-178390155 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.535G>T; p.G179C; 1:178420535-178420535 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3082G>A; p.G1028R; 1:178458407-178458407 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2102G>A; p.R701Q; 1:178454593-178454593 |
bone; scapula | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.3252C>T; p.S1084S; 1:178464310-178464310 |
skin | malignant_melanoma | Substitution - coding silent |
c.3260A>G; p.E1087G; 1:178464318-178464318 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3082G>A; p.G1028R; 1:178458407-178458407 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.919G>T; p.E307*; 1:178442720-178442720 |
liver | carcinoma | Substitution - Nonsense |
c.919G>T; p.E307*; 1:178442720-178442720 |
liver | carcinoma | Substitution - Nonsense |
c.1909C>G; p.L637V; 1:178452606-178452606 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2955A>G; p.I985M; 1:178458280-178458280 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2472_2473GG>TA; p.K824_D825>NN; 1:178457797-178457798 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Complex - compound substitution |
c.3681C>T; p.T1227T; 1:178473110-178473110 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2249C>T; p.T750M; 1:178456791-178456791 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1606G>A; p.E536K; 1:178451603-178451603 |
ovary | other; neoplasm | Substitution - Missense |
c.1525G>A; p.E509K; 1:178445614-178445614 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1589C>T; p.A530V; 1:178451586-178451586 |
skin | malignant_melanoma | Substitution - Missense |
c.1589C>T; p.A530V; 1:178451586-178451586 |
skin | malignant_melanoma | Substitution - Missense |
c.1520C>T; p.S507F; 1:178445609-178445609 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1472G>T; p.G491V; 1:178445561-178445561 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.305A>G; p.Q102R; 1:178300020-178300020 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2361T>G; p.D787E; 1:178457686-178457686 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1430A>G; p.D477G; 1:178445519-178445519 |
large_intestine; colon | NS | Substitution - Missense |
c.2697C>A; p.A899A; 1:178458022-178458022 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3585G>C; p.K1195N; 1:178467361-178467361 |
breast | carcinoma | Substitution - Missense |
c.276G>T; p.E92D; 1:178283691-178283691 |
breast | carcinoma | Substitution - Missense |
c.2210G>A; p.R737H; 1:178456752-178456752 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3695C>T; p.A1232V; 1:178473124-178473124 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3695C>T; p.A1232V; 1:178473124-178473124 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2507G>T; p.S836I; 1:178457832-178457832 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1976A>G; p.Y659C; 1:178454467-178454467 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3657C>T; p.I1219I; 1:178473086-178473086 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.955T>A; p.C319S; 1:178442756-178442756 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2550G>A; p.V850V; 1:178457875-178457875 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1817C>G; p.S606*; 1:178452514-178452514 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1104G>C; p.K368N; 1:178442905-178442905 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1104G>C; p.K368N; 1:178442905-178442905 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3001C>T; p.R1001*; 1:178458326-178458326 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2430G>T; p.L810L; 1:178457755-178457755 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.253G>T; p.V85L; 1:178283668-178283668 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2634G>A; p.Q878Q; 1:178457959-178457959 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.76G>A; p.V26I; 1:178094622-178094622 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1652T>C; p.I551T; 1:178451649-178451649 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1097A>G; p.E366G; 1:178442898-178442898 |
pancreas | carcinoma | Substitution - Missense |
c.2494C>T; p.P832S; 1:178457819-178457819 |
skin | malignant_melanoma | Substitution - Missense |
c.1536C>T; p.L512L; 1:178445625-178445625 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3027T>G; p.G1009G; 1:178458352-178458352 |
breast | carcinoma | Substitution - coding silent |
c.989G>A; p.R330H; 1:178442790-178442790 |
breast | carcinoma | Substitution - Missense |
c.2595A>T; p.G865G; 1:178457920-178457920 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2388G>A; p.Q796Q; 1:178457713-178457713 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3223C>G; p.Q1075E; 1:178464281-178464281 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1533C>A; p.Y511*; 1:178445622-178445622 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3068C>A; p.S1023Y; 1:178458393-178458393 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3733C>T; p.R1245C; 1:178473162-178473162 |
skin | malignant_melanoma | Substitution - Missense |
c.2657C>T; p.P886L; 1:178457982-178457982 |
skin | malignant_melanoma | Substitution - Missense |
c.2235A>C; p.S745S; 1:178456777-178456777 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1278G>T; p.L426L; 1:178443079-178443079 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2294G>T; p.S765I; 1:178456836-178456836 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2504G>A; p.R835Q; 1:178457829-178457829 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2504G>A; p.R835Q; 1:178457829-178457829 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.200C>T; p.T67I; 1:178283615-178283615 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.200C>T; p.T67I; 1:178283615-178283615 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1573G>T; p.G525W; 1:178445662-178445662 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1384G>T; p.A462S; 1:178443185-178443185 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.383C>T; p.P128L; 1:178300098-178300098 |
skin | malignant_melanoma | Substitution - Missense |