Entrez Gene

Basic Information
Gene ID	57186
Name	RALGAPA2
Synonymous	Ral GTPase activating protein, alpha subunit 2 (catalytic);RALGAPA2;Ral GTPase activating protein, alpha subunit 2 (catalytic)
Definition	250 kDa substrate of Akt\|RapGAPalpha2\|akt substrate AS250\|ral GTPase-activating protein alpha subunit 2\|ral GTPase-activating protein subunit alpha-2
Position	20p11.22
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.4370_4371delCT; p.S1457fs*1; 20:20512998-20512999	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1270A>C; p.R424R; 20:20620594-20620594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5510C>G; p.A1837G; 20:20412134-20412134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1054G>T; p.G352C; 20:20629542-20629542	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3688G>A; p.A1230T; 20:20526257-20526257	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4210G>A; p.E1404K; 20:20513159-20513159	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2292C>A; p.S764R; 20:20591226-20591226	breast	carcinoma	Substitution - Missense
c.5451C>T; p.N1817N; 20:20472873-20472873	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3423C>T; p.L1141L; 20:20535795-20535795	liver	carcinoma	Substitution - coding silent
c.4380A>G; p.R1460R; 20:20512989-20512989	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3423C>T; p.L1141L; 20:20535795-20535795	liver	carcinoma	Substitution - coding silent
c.4323G>A; p.Q1441Q; 20:20513046-20513046	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3361C>T; p.L1121L; 20:20536709-20536709	breast	carcinoma	Substitution - coding silent
c.5177C>T; p.P1726L; 20:20503382-20503382	skin	malignant_melanoma	Substitution - Missense
c.1447C>T; p.R483C; 20:20619369-20619369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.509C>A; p.T170K; 20:20640742-20640742	thyroid	carcinoma	Substitution - Missense
c.3436C>T; p.L1146L; 20:20535782-20535782	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.5452G>A; p.A1818T; 20:20472872-20472872	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4965T>C; p.A1655A; 20:20505498-20505498	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3877C>T; p.P1293S; 20:20524429-20524429	skin	malignant_melanoma	Substitution - Missense
c.5620_5621insA; p.1874; 20:20396731-20396732	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.3877C>T; p.P1293S; 20:20524429-20524429	skin	malignant_melanoma	Substitution - Missense
c.3378A>T; p.E1126D; 20:20536692-20536692	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5620_5621insA; p.1874; 20:20396731-20396732	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.510A>T; p.T170T; 20:20640741-20640741	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4188C>T; p.A1396A; 20:20513181-20513181	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4181delG; p.G1394fs*55; 20:20513188-20513188	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3545T>C; p.V1182A; 20:20531724-20531724	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3011T>C; p.L1004P; 20:20571603-20571603	liver	carcinoma	Substitution - Missense
c.781delA; p.T261fs*13; 20:20637387-20637387	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.898C>T; p.R300C; 20:20635525-20635525	skin	malignant_melanoma	Substitution - Missense
c.4781C>T; p.P1594L; 20:20512588-20512588	skin	malignant_melanoma	Substitution - Missense
c.2370G>A; p.S790S; 20:20589337-20589337	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3033C>A; p.G1011G; 20:20571581-20571581	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1190C>G; p.S397*; 20:20629406-20629406	breast	carcinoma	Substitution - Nonsense
c.3168T>A; p.N1056K; 20:20546821-20546821	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.5026G>T; p.D1676Y; 20:20505437-20505437	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2840C>T; p.S947L; 20:20572936-20572936	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5568C>T; p.F1856F; 20:20412076-20412076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3511G>A; p.E1171K; 20:20531758-20531758	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4158G>A; p.L1386L; 20:20513211-20513211	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2450G>A; p.R817Q; 20:20584945-20584945	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.853G>A; p.D285N; 20:20635570-20635570	central_nervous_system; brain	glioma	Substitution - Missense
c.3583-8_3587delTTTTATAGTTTCC; p.?; 20:20526358-20526370	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1551G>A; p.T517T; 20:20616180-20616180	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1206C>T; p.V402V; 20:20629390-20629390	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4460C>A; p.P1487H; 20:20512909-20512909	pancreas	carcinoma	Substitution - Missense
c.4460C>A; p.P1487H; 20:20512909-20512909	pancreas	carcinoma	Substitution - Missense
c.5196C>A; p.S1732S; 20:20503363-20503363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.477C>T; p.F159F; 20:20640774-20640774	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.477C>T; p.F159F; 20:20640774-20640774	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1740G>A; p.K580K; 20:20611375-20611375	skin	malignant_melanoma	Substitution - coding silent
c.3638C>G; p.S1213C; 20:20526307-20526307	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1993C>T; p.L665L; 20:20605220-20605220	breast	carcinoma	Substitution - coding silent
c.3983C>T; p.T1328M; 20:20521018-20521018	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3411C>T; p.V1137V; 20:20536659-20536659	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1409C>A; p.S470Y; 20:20619407-20619407	kidney	other; neoplasm	Substitution - Missense
c.1109G>A; p.R370Q; 20:20629487-20629487	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.937G>A; p.E313K; 20:20635486-20635486	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2508A>G; p.G836G; 20:20584887-20584887	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5612G>T; p.G1871V; 20:20412032-20412032	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3583-1G>A; p.?; 20:20526363-20526363	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Unknown
c.2821G>C; p.D941H; 20:20572955-20572955	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2902-1G>A; p.?; 20:20571947-20571947	liver	carcinoma	Unknown
c.3215C>A; p.P1072H; 20:20546774-20546774	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1578A>G; p.E526E; 20:20616153-20616153	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.889A>G; p.M297V; 20:20635534-20635534	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4948G>T; p.A1650S; 20:20505515-20505515	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1996G>A; p.D666N; 20:20605217-20605217	skin	malignant_melanoma	Substitution - Missense
c.2271G>A; p.Q757Q; 20:20591247-20591247	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1822C>T; p.R608*; 20:20605391-20605391	skin	malignant_melanoma	Substitution - Nonsense
c.2620G>A; p.E874K; 20:20583137-20583137	skin	malignant_melanoma	Substitution - Missense
c.4132G>A; p.V1378M; 20:20513237-20513237	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1308G>A; p.Q436Q; 20:20620556-20620556	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3127A>G; p.M1043V; 20:20571487-20571487	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1308G>A; p.Q436Q; 20:20620556-20620556	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.270+1G>A; p.?; 20:20676235-20676235	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.5171G>A; p.R1724Q; 20:20503388-20503388	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1154G>A; p.R385Q; 20:20629442-20629442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1165G>A; p.E389K; 20:20629431-20629431	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1154G>A; p.R385Q; 20:20629442-20629442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3098C>A; p.S1033*; 20:20571516-20571516	thyroid	other; neoplasm	Substitution - Nonsense
c.5213G>A; p.R1738H; 20:20495271-20495271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3024T>C; p.Y1008Y; 20:20571590-20571590	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.698A>C; p.N233T; 20:20637470-20637470	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5298A>C; p.G1766G; 20:20495186-20495186	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1682A>G; p.K561R; 20:20616049-20616049	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3099A>G; p.S1033S; 20:20571515-20571515	thyroid	other; neoplasm	Substitution - coding silent
c.4793G>A; p.R1598Q; 20:20512576-20512576	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2234C>T; p.A745V; 20:20591284-20591284	breast	carcinoma	Substitution - Missense
c.2380G>A; p.E794K; 20:20589327-20589327	skin	malignant_melanoma	Substitution - Missense
c.561T>C; p.Y187Y; 20:20639890-20639890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1104G>A; p.S368S; 20:20629492-20629492	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1248T>G; p.P416P; 20:20620616-20620616	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1104G>A; p.S368S; 20:20629492-20629492	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.912T>C; p.I304I; 20:20635511-20635511	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3650A>G; p.K1217R; 20:20526295-20526295	thyroid	carcinoma	Substitution - Missense
c.4875G>T; p.L1625F; 20:20511307-20511307	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4009G>T; p.A1337S; 20:20520992-20520992	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2301C>T; p.T767T; 20:20591217-20591217	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3170C>T; p.T1057M; 20:20546819-20546819	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5246G>T; p.W1749L; 20:20495238-20495238	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5243T>A; p.V1748D; 20:20495241-20495241	pancreas	carcinoma	Substitution - Missense
c.1269A>G; p.T423T; 20:20620595-20620595	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5448C>T; p.I1816I; 20:20472876-20472876	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1859G>A; p.W620*; 20:20605354-20605354	ovary	other; neoplasm	Substitution - Nonsense
c.3159T>G; p.D1053E; 20:20546830-20546830	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.568G>T; p.E190*; 20:20639883-20639883	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.568G>T; p.E190*; 20:20639883-20639883	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2690A>T; p.D897V; 20:20583067-20583067	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4036C>A; p.Q1346K; 20:20520965-20520965	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4624C>G; p.L1542V; 20:20512745-20512745	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1115T>G; p.L372R; 20:20629481-20629481	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5223_5224insG; p.N1742fs*2; 20:20495260-20495261	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4463A>G; p.N1488S; 20:20512906-20512906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.736C>T; p.R246*; 20:20637432-20637432	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4610C>T; p.P1537L; 20:20512759-20512759	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.341delA; p.K114fs*12; 20:20643537-20643537	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2760C>T; p.L920L; 20:20573016-20573016	breast	carcinoma	Substitution - coding silent
c.2119G>A; p.E707K; 20:20601766-20601766	skin	malignant_melanoma	Substitution - Missense
c.3976T>C; p.S1326P; 20:20521025-20521025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.616G>A; p.D206N; 20:20639835-20639835	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4717G>A; p.E1573K; 20:20512652-20512652	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3718C>A; p.L1240I; 20:20524874-20524874	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2641G>C; p.V881L; 20:20583116-20583116	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4364C>G; p.S1455C; 20:20513005-20513005	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1506A>G; p.T502T; 20:20619310-20619310	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1066G>A; p.E356K; 20:20629530-20629530	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1478G>A; p.R493K; 20:20619338-20619338	breast	carcinoma	Substitution - Missense
c.114G>A; p.V38V; 20:20680794-20680794	pancreas	carcinoma	Substitution - coding silent
c.737G>A; p.R246Q; 20:20637431-20637431	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3592A>T; p.K1198*; 20:20526353-20526353	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.592A>G; p.I198V; 20:20639859-20639859	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3834C>A; p.P1278P; 20:20524472-20524472	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2246G>T; p.G749V; 20:20591272-20591272	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1687T>C; p.W563R; 20:20616044-20616044	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2070C>T; p.T690T; 20:20601815-20601815	breast	carcinoma	Substitution - coding silent
c.159G>T; p.Q53H; 20:20680749-20680749	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4697G>A; p.R1566H; 20:20512672-20512672	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4251C>T; p.S1417S; 20:20513118-20513118	skin	malignant_melanoma	Substitution - coding silent
c.1687T>C; p.W563R; 20:20616044-20616044	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3253G>C; p.A1085P; 20:20546736-20546736	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5450A>G; p.N1817S; 20:20472874-20472874	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1552A>T; p.N518Y; 20:20616179-20616179	liver	carcinoma	Substitution - Missense
c.2721C>A; p.C907*; 20:20573055-20573055	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1552A>T; p.N518Y; 20:20616179-20616179	liver	carcinoma	Substitution - Missense
c.2100G>A; p.R700R; 20:20601785-20601785	thyroid	carcinoma	Substitution - coding silent
c.3355C>T; p.P1119S; 20:20536715-20536715	skin	malignant_melanoma	Substitution - Missense
c.4951G>T; p.V1651L; 20:20505512-20505512	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1850G>A; p.R617Q; 20:20605363-20605363	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1850G>A; p.R617Q; 20:20605363-20605363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2148G>A; p.T716T; 20:20601737-20601737	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1984A>G; p.N662D; 20:20605229-20605229	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1506A>C; p.T502T; 20:20619310-20619310	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2748C>T; p.A916A; 20:20573028-20573028	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2402A>T; p.N801I; 20:20589305-20589305	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2342-4C>G; p.?; 20:20589369-20589369	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.1305C>T; p.L435L; 20:20620559-20620559	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3992A>C; p.D1331A; 20:20521009-20521009	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4057T>A; p.L1353M; 20:20520944-20520944	breast	carcinoma	Substitution - Missense
c.5563G>T; p.D1855Y; 20:20412081-20412081	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3992A>C; p.D1331A; 20:20521009-20521009	skin	malignant_melanoma	Substitution - Missense
c.5563G>T; p.D1855Y; 20:20412081-20412081	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5610C>T; p.S1870S; 20:20412034-20412034	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5610C>T; p.S1870S; 20:20412034-20412034	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.5610C>T; p.S1870S; 20:20412034-20412034	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5425A>C; p.S1809R; 20:20472899-20472899	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.4529C>T; p.S1510F; 20:20512840-20512840	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1448G>A; p.R483H; 20:20619368-20619368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4656G>C; p.M1552I; 20:20512713-20512713	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4844C>A; p.S1615Y; 20:20512525-20512525	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4949C>T; p.A1650V; 20:20505514-20505514	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2204-1G>A; p.?; 20:20591315-20591315	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.5507G>A; p.R1836Q; 20:20412137-20412137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4769G>A; p.G1590E; 20:20512600-20512600	skin	malignant_melanoma	Substitution - Missense
c.3292C>T; p.R1098C; 20:20536778-20536778	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1873G>A; p.G625S; 20:20605340-20605340	skin	malignant_melanoma	Substitution - Missense
c.5572G>A; p.A1858T; 20:20412072-20412072	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4278G>T; p.L1426L; 20:20513091-20513091	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2001A>T; p.K667N; 20:20605212-20605212	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1029G>T; p.Q343H; 20:20629567-20629567	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1208A>G; p.N403S; 20:20629388-20629388	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1522G>A; p.V508I; 20:20619294-20619294	pancreas	carcinoma	Substitution - Missense
c.5269C>A; p.R1757S; 20:20495215-20495215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4260G>A; p.V1420V; 20:20513109-20513109	breast	carcinoma	Substitution - coding silent
c.5002G>T; p.E1668*; 20:20505461-20505461	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.5615C>T; p.T1872M; 20:20412029-20412029	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1802C>T; p.T601M; 20:20605411-20605411	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4844C>T; p.S1615F; 20:20512525-20512525	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4844C>T; p.S1615F; 20:20512525-20512525	breast	carcinoma	Substitution - Missense
c.4844C>T; p.S1615F; 20:20512525-20512525	liver	carcinoma	Substitution - Missense
c.5031T>C; p.F1677F; 20:20505432-20505432	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.5115G>C; p.Q1705H; 20:20503444-20503444	breast	carcinoma	Substitution - Missense
c.1297T>C; p.W433R; 20:20620567-20620567	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1297T>C; p.W433R; 20:20620567-20620567	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2047C>A; p.L683I; 20:20601838-20601838	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3260G>T; p.R1087M; 20:20546729-20546729	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4543G>A; p.E1515K; 20:20512826-20512826	breast	carcinoma	Substitution - Missense
c.2305G>A; p.D769N; 20:20591213-20591213	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3077G>A; p.R1026H; 20:20571537-20571537	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.703G>T; p.D235Y; 20:20637465-20637465	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2182A>G; p.I728V; 20:20601703-20601703	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2716G>A; p.E906K; 20:20573060-20573060	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.863A>G; p.N288S; 20:20635560-20635560	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.767C>T; p.S256L; 20:20637401-20637401	skin	malignant_melanoma	Substitution - Missense
c.1647delT; p.F549fs*4; 20:20616084-20616084	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2022G>T; p.K674N; 20:20605191-20605191	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3606G>T; p.Q1202H; 20:20526339-20526339	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3084C>T; p.D1028D; 20:20571530-20571530	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.192A>G; p.A64A; 20:20680716-20680716	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5012G>A; p.S1671N; 20:20505451-20505451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4708C>T; p.Q1570*; 20:20512661-20512661	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3171G>A; p.T1057T; 20:20546818-20546818	skin	malignant_melanoma	Substitution - coding silent
c.3171G>A; p.T1057T; 20:20546818-20546818	breast	carcinoma	Substitution - coding silent
c.4228C>T; p.H1410Y; 20:20513141-20513141	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5119G>A; p.A1707T; 20:20503440-20503440	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4139C>T; p.A1380V; 20:20513230-20513230	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3980C>T; p.S1327F; 20:20521021-20521021	pancreas	carcinoma	Substitution - Missense
c.3637T>C; p.S1213P; 20:20526308-20526308	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2008G>T; p.E670*; 20:20605205-20605205	endometrium	carcinoma; serous_carcinoma	Substitution - Nonsense
c.4857-3T>A; p.?; 20:20511328-20511328	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.4795G>T; p.G1599*; 20:20512574-20512574	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.135G>A; p.Q45Q; 20:20680773-20680773	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4913T>A; p.L1638*; 20:20511269-20511269	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.2016G>A; p.K672K; 20:20605197-20605197	breast	carcinoma	Substitution - coding silent
c.1720A>G; p.T574A; 20:20611395-20611395	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3214C>T; p.P1072S; 20:20546775-20546775	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2481G>C; p.L827F; 20:20584914-20584914	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3845C>T; p.A1282V; 20:20524461-20524461	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5111G>A; p.G1704E; 20:20503448-20503448	skin	malignant_melanoma	Substitution - Missense
c.5503G>A; p.E1835K; 20:20412141-20412141	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5452G>T; p.A1818S; 20:20472872-20472872	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4253T>A; p.F1418Y; 20:20513116-20513116	skin	malignant_melanoma	Substitution - Missense
c.2319G>A; p.P773P; 20:20591199-20591199	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1071G>T; p.Q357H; 20:20629525-20629525	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2312C>T; p.P771L; 20:20591206-20591206	skin	malignant_melanoma	Substitution - Missense
c.3728G>A; p.S1243N; 20:20524864-20524864	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3137G>A; p.G1046E; 20:20571477-20571477	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2391T>C; p.P797P; 20:20589316-20589316	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5180C>T; p.S1727L; 20:20503379-20503379	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5569G>A; p.A1857T; 20:20412075-20412075	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4490C>T; p.S1497L; 20:20512879-20512879	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3076C>T; p.R1026C; 20:20571538-20571538	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4941_4942delCA; p.H1647fs*9; 20:20505521-20505522	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1888C>T; p.L630F; 20:20605325-20605325	skin	malignant_melanoma	Substitution - Missense
c.3797G>T; p.W1266L; 20:20524509-20524509	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3210T>G; p.G1070G; 20:20546779-20546779	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3959T>C; p.L1320P; 20:20521042-20521042	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2745C>T; p.I915I; 20:20573031-20573031	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3162C>T; p.I1054I; 20:20546827-20546827	skin	malignant_melanoma	Substitution - coding silent
c.2745C>T; p.I915I; 20:20573031-20573031	skin	malignant_melanoma	Substitution - coding silent
c.1862A>T; p.D621V; 20:20605351-20605351	skin	malignant_melanoma	Substitution - Missense
c.4948G>A; p.A1650T; 20:20505515-20505515	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1460T>G; p.F487C; 20:20619356-20619356	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3900G>A; p.R1300R; 20:20524406-20524406	skin	malignant_melanoma	Substitution - coding silent
c.4660T>G; p.Y1554D; 20:20512709-20512709	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2562C>T; p.G854G; 20:20583195-20583195	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5208G>A; p.K1736K; 20:20503351-20503351	skin	malignant_melanoma	Substitution - coding silent
c.2136G>T; p.R712S; 20:20601749-20601749	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1859G>T; p.W620L; 20:20605354-20605354	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1178G>A; p.R393Q; 20:20629418-20629418	skin	malignant_melanoma	Substitution - Missense
c.1178G>A; p.R393Q; 20:20629418-20629418	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4227C>T; p.A1409A; 20:20513142-20513142	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4230T>C; p.H1410H; 20:20513139-20513139	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2707+2T>A; p.?; 20:20583048-20583048	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2912A>G; p.N971S; 20:20571936-20571936	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1131C>G; p.L377L; 20:20629465-20629465	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2771delA; p.H924fs*19; 20:20573005-20573005	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2417A>G; p.K806R; 20:20589290-20589290	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4085-3C>T; p.?; 20:20513287-20513287	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.3947G>A; p.S1316N; 20:20521054-20521054	skin	malignant_melanoma	Substitution - Missense
c.1928T>A; p.I643N; 20:20605285-20605285	skin	malignant_melanoma	Substitution - Missense
c.3813C>T; p.P1271P; 20:20524493-20524493	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1539+5G>A; p.?; 20:20619272-20619272	pancreas	carcinoma	Unknown
c.5404G>A; p.V1802M; 20:20472920-20472920	skin	malignant_melanoma	Substitution - Missense
c.2263G>A; p.V755M; 20:20591255-20591255	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3638C>T; p.S1213F; 20:20526307-20526307	skin	malignant_melanoma	Substitution - Missense
c.3762+1G>A; p.?; 20:20524829-20524829	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.3910T>C; p.C1304R; 20:20521091-20521091	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3428A>G; p.N1143S; 20:20535790-20535790	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5221G>T; p.G1741W; 20:20495263-20495263	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5379delT; p.F1793fs*9; 20:20472945-20472945	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4171C>T; p.L1391F; 20:20513198-20513198	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3616G>A; p.D1206N; 20:20526329-20526329	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5174T>C; p.M1725T; 20:20503385-20503385	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2284C>T; p.L762F; 20:20591234-20591234	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1615G>T; p.V539F; 20:20616116-20616116	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3826C>T; p.L1276F; 20:20524480-20524480	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4661A>G; p.Y1554C; 20:20512708-20512708	liver	carcinoma	Substitution - Missense
c.2664T>G; p.R888R; 20:20583093-20583093	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5157C>T; p.F1719F; 20:20503402-20503402	skin	malignant_melanoma	Substitution - coding silent
c.4740C>T; p.F1580F; 20:20512629-20512629	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4740C>T; p.F1580F; 20:20512629-20512629	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3798G>T; p.W1266C; 20:20524508-20524508	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5343C>A; p.F1781L; 20:20495141-20495141	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1587T>C; p.A529A; 20:20616144-20616144	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4740C>T; p.F1580F; 20:20512629-20512629	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4947C>T; p.I1649I; 20:20505516-20505516	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4791C>T; p.P1597P; 20:20512578-20512578	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.4947C>T; p.I1649I; 20:20505516-20505516	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5270G>A; p.R1757H; 20:20495214-20495214	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.3100G>A; p.D1034N; 20:20571514-20571514	thyroid	other; neoplasm	Substitution - Missense
c.2369C>T; p.S790L; 20:20589338-20589338	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5560G>A; p.E1854K; 20:20412084-20412084	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3118delT; p.Y1040fs*3; 20:20571496-20571496	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2533G>A; p.E845K; 20:20583224-20583224	skin	malignant_melanoma	Substitution - Missense
c.5166C>A; p.S1722S; 20:20503393-20503393	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4148T>G; p.V1383G; 20:20513221-20513221	breast	carcinoma	Substitution - Missense
c.4567T>G; p.L1523V; 20:20512802-20512802	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3997_3998delTT; p.F1333fs*10; 20:20521003-20521004	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.5087G>A; p.G1696D; 20:20503472-20503472	lung	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]