Entrez Gene

Basic Information
Gene ID	20
Name	ABCA2
Synonymous	ATP-binding cassette, sub-family A (ABC1), member 2;ABCA2;ATP-binding cassette, sub-family A (ABC1), member 2
Definition	ATP-binding cassette 2\|ATP-binding cassette sub-family A member 2\|ATP-binding cassette transporter 2\|ATP-binding cassette, sub-family A, member 2
Position	9q34
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2940G>T; p.M980I; 9:137016455-137016455	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2165T>A; p.M722K; 9:137017833-137017833	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.196G>A; p.G66S; 9:137023020-137023020	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4091C>T; p.S1364L; 9:137014317-137014317	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2464T>C; p.Y822H; 9:137017285-137017285	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5948C>T; p.P1983L; 9:137011081-137011081	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6401C>T; p.P2134L; 9:137010077-137010077	skin	malignant_melanoma	Substitution - Missense
c.5026G>A; p.G1676S; 9:137012767-137012767	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.6401C>T; p.P2134L; 9:137010077-137010077	skin	malignant_melanoma	Substitution - Missense
c.5948C>T; p.P1983L; 9:137011081-137011081	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.296G>A; p.R99H; 9:137022845-137022845	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2769G>T; p.G923G; 9:137016728-137016728	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.5061C>T; p.S1687S; 9:137012732-137012732	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4445T>C; p.I1482T; 9:137013834-137013834	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3844G>T; p.E1282*; 9:137014951-137014951	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.5746G>A; p.G1916S; 9:137011460-137011460	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3844G>T; p.E1282*; 9:137014951-137014951	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2855G>T; p.W952L; 9:137016642-137016642	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6590C>T; p.T2197M; 9:137009809-137009809	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4839C>T; p.N1613N; 9:137013030-137013030	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.4839C>T; p.N1613N; 9:137013030-137013030	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.1838G>A; p.R613Q; 9:137018333-137018333	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1856C>T; p.P619L; 9:137018315-137018315	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.6217C>A; p.R2073S; 9:137010329-137010329	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1334G>A; p.R445Q; 9:137020427-137020427	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.6646G>A; p.G2216S; 9:137009629-137009629	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7134C>T; p.S2378S; 9:137008557-137008557	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.486C>G; p.L162L; 9:137022432-137022432	parathyroid	carcinoma	Substitution - coding silent
c.99G>T; p.L33L; 9:137024204-137024204	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5700C>T; p.V1900V; 9:137011506-137011506	skin	malignant_melanoma	Substitution - coding silent
c.3144C>T; p.S1048S; 9:137016135-137016135	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6942C>G; p.H2314Q; 9:137008857-137008857	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5679G>A; p.P1893P; 9:137011527-137011527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.750C>T; p.I250I; 9:137021539-137021539	skin	malignant_melanoma	Substitution - coding silent
c.92T>C; p.I31T; 9:137024211-137024211	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2308G>A; p.A770T; 9:137017596-137017596	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.92T>C; p.I31T; 9:137024211-137024211	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.4986G>A; p.Q1662Q; 9:137012807-137012807	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2292C>T; p.S764S; 9:137017612-137017612	skin	malignant_melanoma	Substitution - coding silent
c.6276G>A; p.A2092A; 9:137010270-137010270	thyroid	other; neoplasm	Substitution - coding silent
c.6276G>A; p.A2092A; 9:137010270-137010270	thyroid	other; neoplasm	Substitution - coding silent
c.2402+6C>T; p.?; 9:137017496-137017496	liver	carcinoma	Unknown
c.2088A>G; p.T696T; 9:137017981-137017981	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1815delT; p.F605fs*4; 9:137018723-137018723	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2035G>A; p.D679N; 9:137018034-137018034	central_nervous_system; brain	glioma	Substitution - Missense
c.3868G>A; p.E1290K; 9:137014927-137014927	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3868G>A; p.E1290K; 9:137014927-137014927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6789C>A; p.R2263R; 9:137009408-137009408	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3066C>T; p.S1022S; 9:137016329-137016329	skin	malignant_melanoma	Substitution - coding silent
c.3066C>T; p.S1022S; 9:137016329-137016329	skin	malignant_melanoma	Substitution - coding silent
c.5841C>T; p.L1947L; 9:137011268-137011268	breast	carcinoma	Substitution - coding silent
c.2343C>T; p.S781S; 9:137017561-137017561	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2402+7G>A; p.?; 9:137017495-137017495	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.5392T>A; p.F1798I; 9:137011987-137011987	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5392T>A; p.F1798I; 9:137011987-137011987	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5392T>A; p.F1798I; 9:137011987-137011987	large_intestine; colon	carcinoma	Substitution - Missense
c.2100C>T; p.F700F; 9:137017898-137017898	skin	malignant_melanoma	Substitution - coding silent
c.5392T>A; p.F1798I; 9:137011987-137011987	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3609C>T; p.C1203C; 9:137015502-137015502	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2493C>T; p.Y831Y; 9:137017256-137017256	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2493C>T; p.Y831Y; 9:137017256-137017256	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.176C>T; p.A59V; 9:137023040-137023040	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3111C>T; p.I1037I; 9:137016168-137016168	skin	malignant_melanoma	Substitution - coding silent
c.5879A>G; p.E1960G; 9:137011230-137011230	liver	carcinoma	Substitution - Missense
c.5847C>T; p.F1949F; 9:137011262-137011262	skin	malignant_melanoma	Substitution - coding silent
c.5879A>G; p.E1960G; 9:137011230-137011230	liver	carcinoma	Substitution - Missense
c.2869delC; p.R957fs*52; 9:137016628-137016628	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.950delC; p.P317fs*118; 9:137021009-137021009	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.897+2T>C; p.?; 9:137021390-137021390	stomach	carcinoma; adenocarcinoma	Unknown
c.2373A>C; p.A791A; 9:137017531-137017531	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.5361G>A; p.L1787L; 9:137012018-137012018	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.5017G>A; p.D1673N; 9:137012776-137012776	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.7201C>T; p.R2401W; 9:137008490-137008490	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4355_4356insCC; p.R1453fs*22; 9:137013923-137013924	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.5289G>A; p.P1763P; 9:137012275-137012275	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6376G>C; p.V2126L; 9:137010102-137010102	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6410A>G; p.D2137G; 9:137010068-137010068	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2072C>T; p.P691L; 9:137017997-137017997	skin	malignant_melanoma	Substitution - Missense
c.389C>T; p.A130V; 9:137022752-137022752	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6634G>A; p.E2212K; 9:137009641-137009641	breast	carcinoma	Substitution - Missense
c.3592G>T; p.G1198W; 9:137015519-137015519	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5313C>T; p.T1771T; 9:137012149-137012149	skin	malignant_melanoma	Substitution - coding silent
c.2156C>T; p.S719F; 9:137017842-137017842	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2156C>T; p.S719F; 9:137017842-137017842	skin	malignant_melanoma	Substitution - Missense
c.2572G>A; p.A858T; 9:137017106-137017106	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5052C>T; p.L1684L; 9:137012741-137012741	skin	malignant_melanoma	Substitution - coding silent
c.4085G>A; p.R1362Q; 9:137014323-137014323	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6015C>T; p.L2005L; 9:137011014-137011014	skin	malignant_melanoma	Substitution - coding silent
c.2572G>A; p.A858T; 9:137017106-137017106	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5868C>T; p.H1956H; 9:137011241-137011241	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6105C>T; p.A2035A; 9:137010689-137010689	thyroid	other; neoplasm	Substitution - coding silent
c.2752C>T; p.H918Y; 9:137016926-137016926	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1097G>T; p.G366V; 9:137020862-137020862	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4351G>C; p.A1451P; 9:137013928-137013928	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4351G>C; p.A1451P; 9:137013928-137013928	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4351G>C; p.A1451P; 9:137013928-137013928	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4148G>A; p.R1383H; 9:137014260-137014260	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3180G>A; p.M1060I; 9:137016099-137016099	breast	carcinoma	Substitution - Missense
c.1510C>T; p.L504L; 9:137019222-137019222	skin	malignant_melanoma	Substitution - coding silent
c.6119G>T; p.R2040L; 9:137010675-137010675	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3460G>A; p.V1154M; 9:137015729-137015729	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4660G>T; p.G1554W; 9:137013209-137013209	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3723A>T; p.P1241P; 9:137015072-137015072	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6431C>T; p.T2144M; 9:137010047-137010047	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5694C>T; p.F1898F; 9:137011512-137011512	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5694C>T; p.F1898F; 9:137011512-137011512	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3232G>T; p.D1078Y; 9:137016047-137016047	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1924G>A; p.A642T; 9:137018247-137018247	breast	carcinoma	Substitution - Missense
c.5594C>T; p.P1865L; 9:137011691-137011691	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4748G>A; p.G1583E; 9:137013121-137013121	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5865C>T; p.G1955G; 9:137011244-137011244	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6784G>C; p.G2262R; 9:137009413-137009413	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6218G>A; p.R2073H; 9:137010328-137010328	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3156C>T; p.Y1052Y; 9:137016123-137016123	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5924-2A>C; p.?; 9:137011107-137011107	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.4478C>T; p.S1493F; 9:137013533-137013533	skin	malignant_melanoma	Substitution - Missense
c.2661G>A; p.E887E; 9:137017017-137017017	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2655G>A; p.P885P; 9:137017023-137017023	pancreas	carcinoma	Substitution - coding silent
c.405G>A; p.P135P; 9:137022736-137022736	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.364G>A; p.E122K; 9:137022777-137022777	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3716G>T; p.S1239I; 9:137015079-137015079	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1266-3C>T; p.?; 9:137020498-137020498	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.3243G>A; p.T1081T; 9:137016036-137016036	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4522T>C; p.Y1508H; 9:137013489-137013489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.816G>T; p.Q272H; 9:137021473-137021473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3019G>A; p.A1007T; 9:137016376-137016376	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2444C>T; p.S815L; 9:137017305-137017305	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2194G>C; p.E732Q; 9:137017804-137017804	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.77C>T; p.A26V; 9:137024226-137024226	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2667C>T; p.D889D; 9:137017011-137017011	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4321C>T; p.H1441Y; 9:137013958-137013958	skin	malignant_melanoma	Substitution - Missense
c.5159G>T; p.R1720L; 9:137012513-137012513	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.5505C>A; p.I1835I; 9:137011874-137011874	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1021T>A; p.S341T; 9:137020938-137020938	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6179A>G; p.Y2060C; 9:137010367-137010367	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2459T>C; p.I820T; 9:137017290-137017290	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6730C>T; p.H2244Y; 9:137009545-137009545	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3621C>A; p.L1207L; 9:137015490-137015490	prostate	carcinoma	Substitution - coding silent
c.4197C>T; p.P1399P; 9:137014211-137014211	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2323G>A; p.G775S; 9:137017581-137017581	soft_tissue; fibrous_tissue_and_uncertain_o	gastrointestinal_stromal_tumour	Substitution - Missense
c.1974C>T; p.Y658Y; 9:137018197-137018197	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.5158C>T; p.R1720W; 9:137012514-137012514	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3085G>A; p.A1029T; 9:137016310-137016310	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2620G>A; p.V874M; 9:137017058-137017058	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.6622A>G; p.I2208V; 9:137009777-137009777	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6690T>C; p.L2230L; 9:137009585-137009585	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1749C>T; p.F583F; 9:137018789-137018789	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3677C>T; p.A1226V; 9:137015434-137015434	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1538_1541delTGCG; p.L513fs*7; 9:137019191-137019194	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2710G>A; p.A904T; 9:137016968-137016968	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5508C>A; p.Y1836*; 9:137011871-137011871	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3300C>A; p.I1100I; 9:137015979-137015979	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5508C>A; p.Y1836*; 9:137011871-137011871	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2600C>T; p.A867V; 9:137017078-137017078	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1218C>T; p.F406F; 9:137020741-137020741	skin	malignant_melanoma	Substitution - coding silent
c.2037T>C; p.D679D; 9:137018032-137018032	thyroid	other; neoplasm	Substitution - coding silent
c.5117C>T; p.S1706F; 9:137012555-137012555	skin	malignant_melanoma	Substitution - Missense
c.6244G>A; p.E2082K; 9:137010302-137010302	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5990C>T; p.A1997V; 9:137011039-137011039	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.6672C>T; p.F2224F; 9:137009603-137009603	skin	malignant_melanoma	Substitution - coding silent
c.4241-1G>A; p.?; 9:137014039-137014039	urinary_tract; bladder	carcinoma	Unknown
c.2709C>T; p.D903D; 9:137016969-137016969	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3713C>T; p.S1238F; 9:137015082-137015082	skin	malignant_melanoma	Substitution - Missense
c.1327G>A; p.E443K; 9:137020434-137020434	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3203G>T; p.G1068V; 9:137016076-137016076	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1912G>A; p.E638K; 9:137018259-137018259	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1327G>A; p.E443K; 9:137020434-137020434	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.7074C>T; p.F2358F; 9:137008617-137008617	skin	malignant_melanoma	Substitution - coding silent
c.5991G>A; p.A1997A; 9:137011038-137011038	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5991G>A; p.A1997A; 9:137011038-137011038	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4934C>T; p.A1645V; 9:137012859-137012859	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1759G>T; p.E587*; 9:137018779-137018779	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2026G>A; p.V676M; 9:137018043-137018043	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.6886G>T; p.V2296L; 9:137008995-137008995	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5379C>T; p.V1793V; 9:137012000-137012000	skin	malignant_melanoma	Substitution - coding silent
c.5379C>T; p.V1793V; 9:137012000-137012000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3439C>T; p.L1147L; 9:137015750-137015750	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3439C>T; p.L1147L; 9:137015750-137015750	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3734C>T; p.P1245L; 9:137015061-137015061	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2478C>T; p.Y826Y; 9:137017271-137017271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3734C>T; p.P1245L; 9:137015061-137015061	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1412G>A; p.R471H; 9:137020349-137020349	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5173C>T; p.R1725C; 9:137012499-137012499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.404C>T; p.P135L; 9:137022737-137022737	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6412G>A; p.A2138T; 9:137010066-137010066	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1651G>A; p.G551S; 9:137018974-137018974	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.769C>A; p.Q257K; 9:137021520-137021520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3163G>A; p.D1055N; 9:137016116-137016116	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3442G>A; p.D1148N; 9:137015747-137015747	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2565C>A; p.S855S; 9:137017113-137017113	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5971C>T; p.R1991C; 9:137011058-137011058	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2285C>T; p.S762F; 9:137017619-137017619	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5971C>T; p.R1991C; 9:137011058-137011058	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5484C>T; p.V1828V; 9:137011895-137011895	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.6564C>T; p.S2188S; 9:137009835-137009835	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2064G>T; p.Q688H; 9:137018005-137018005	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4404C>T; p.F1468F; 9:137013875-137013875	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2064G>T; p.Q688H; 9:137018005-137018005	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5755G>A; p.A1919T; 9:137011451-137011451	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4124C>T; p.S1375L; 9:137014284-137014284	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1154A>G; p.E385G; 9:137020805-137020805	thyroid	carcinoma	Substitution - Missense
c.3772A>G; p.I1258V; 9:137015023-137015023	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3387G>A; p.K1129K; 9:137015802-137015802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.432A>C; p.R144S; 9:137022709-137022709	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6682C>T; p.L2228F; 9:137009593-137009593	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1285C>T; p.L429L; 9:137020476-137020476	thyroid	carcinoma	Substitution - coding silent
c.4610C>T; p.S1537L; 9:137013259-137013259	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4877C>T; p.T1626M; 9:137012916-137012916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4877C>T; p.T1626M; 9:137012916-137012916	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3081C>T; p.N1027N; 9:137016314-137016314	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7202G>A; p.R2401Q; 9:137008489-137008489	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.501G>T; p.T167T; 9:137022417-137022417	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6647G>A; p.G2216D; 9:137009628-137009628	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5793C>T; p.H1931H; 9:137011413-137011413	prostate	carcinoma	Substitution - coding silent
c.6647G>A; p.G2216D; 9:137009628-137009628	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2017G>A; p.D673N; 9:137018052-137018052	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3219C>A; p.H1073Q; 9:137016060-137016060	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.5065C>T; p.R1689C; 9:137012728-137012728	skin	malignant_melanoma	Substitution - Missense
c.6058C>T; p.R2020C; 9:137010736-137010736	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4693C>T; p.R1565C; 9:137013176-137013176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2382G>A; p.A794A; 9:137017522-137017522	breast	carcinoma	Substitution - coding silent
c.3007G>A; p.D1003N; 9:137016388-137016388	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4083C>T; p.A1361A; 9:137014325-137014325	skin	malignant_melanoma	Substitution - coding silent
c.4107G>A; p.S1369S; 9:137014301-137014301	pancreas	carcinoma	Substitution - coding silent
c.2662G>A; p.G888R; 9:137017016-137017016	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1603G>C; p.D535H; 9:137019022-137019022	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.5472C>T; p.H1824H; 9:137011907-137011907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4405G>A; p.V1469I; 9:137013874-137013874	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.6486C>T; p.D2162D; 9:137009992-137009992	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3728G>A; p.R1243Q; 9:137015067-137015067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1093G>A; p.G365S; 9:137020866-137020866	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2893C>T; p.Q965*; 9:137016604-137016604	skin	malignant_melanoma	Substitution - Nonsense
c.1710G>T; p.Q570H; 9:137018915-137018915	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5166C>T; p.I1722I; 9:137012506-137012506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5166C>T; p.I1722I; 9:137012506-137012506	skin	malignant_melanoma	Substitution - coding silent
c.3453G>A; p.T1151T; 9:137015736-137015736	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3003_3004GG>AA; p.D1002N; 9:137016391-137016392	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6826C>T; p.R2276W; 9:137009371-137009371	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2749G>A; p.V917M; 9:137016929-137016929	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4359C>A; p.R1453R; 9:137013920-137013920	liver	carcinoma	Substitution - coding silent
c.4359C>A; p.R1453R; 9:137013920-137013920	liver	carcinoma	Substitution - coding silent
c.486C>A; p.L162L; 9:137022432-137022432	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1657G>T; p.A553S; 9:137018968-137018968	thyroid	other; neoplasm	Substitution - Missense
c.2870G>A; p.R957H; 9:137016627-137016627	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6851C>T; p.T2284M; 9:137009030-137009030	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2313C>T; p.I771I; 9:137017591-137017591	breast	carcinoma	Substitution - coding silent
c.723G>A; p.T241T; 9:137021566-137021566	pancreas	carcinoma	Substitution - coding silent
c.5447C>T; p.A1816V; 9:137011932-137011932	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.4435G>T; p.V1479F; 9:137013844-137013844	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4435G>T; p.V1479F; 9:137013844-137013844	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.398C>T; p.A133V; 9:137022743-137022743	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.3789C>T; p.A1263A; 9:137015006-137015006	skin	malignant_melanoma	Substitution - coding silent
c.398C>T; p.A133V; 9:137022743-137022743	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2453G>T; p.G818V; 9:137017296-137017296	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.398C>T; p.A133V; 9:137022743-137022743	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6437G>A; p.R2146Q; 9:137010041-137010041	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3508A>G; p.K1170E; 9:137015681-137015681	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.5145C>T; p.A1715A; 9:137012527-137012527	skin	malignant_melanoma	Substitution - coding silent
c.195C>G; p.A65A; 9:137023021-137023021	skin	malignant_melanoma	Substitution - coding silent
c.2406C>T; p.F802F; 9:137017343-137017343	skin	malignant_melanoma	Substitution - coding silent
c.2194G>A; p.E732K; 9:137017804-137017804	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3479G>A; p.R1160H; 9:137015710-137015710	skin	malignant_melanoma	Substitution - Missense
c.2208G>T; p.K736N; 9:137017790-137017790	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1864G>A; p.V622M; 9:137018307-137018307	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4767C>T; p.F1589F; 9:137013102-137013102	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2861G>A; p.R954H; 9:137016636-137016636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3806C>G; p.S1269*; 9:137014989-137014989	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.5924-1G>T; p.?; 9:137011106-137011106	stomach	carcinoma; adenocarcinoma	Unknown
c.4918C>T; p.R1640C; 9:137012875-137012875	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.554T>C; p.V185A; 9:137022364-137022364	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2710G>T; p.A904S; 9:137016968-137016968	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.554T>C; p.V185A; 9:137022364-137022364	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3594G>A; p.G1198G; 9:137015517-137015517	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4147C>T; p.R1383C; 9:137014261-137014261	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6591G>T; p.T2197T; 9:137009808-137009808	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3132A>G; p.P1044P; 9:137016147-137016147	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4048C>T; p.P1350S; 9:137014360-137014360	skin	malignant_melanoma	Substitution - Missense
c.4788C>T; p.P1596P; 9:137013081-137013081	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.537A>C; p.A179A; 9:137022381-137022381	breast	carcinoma	Substitution - coding silent
c.4655C>T; p.S1552L; 9:137013214-137013214	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1880G>A; p.R627H; 9:137018291-137018291	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3638A>G; p.Y1213C; 9:137015473-137015473	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4994T>G; p.V1665G; 9:137012799-137012799	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.3504G>A; p.K1168K; 9:137015685-137015685	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6578G>A; p.R2193Q; 9:137009821-137009821	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5863G>T; p.G1955C; 9:137011246-137011246	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.856G>A; p.E286K; 9:137021433-137021433	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6320C>T; p.T2107M; 9:137010226-137010226	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2928G>A; p.E976E; 9:137016467-137016467	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3112C>T; p.L1038L; 9:137016167-137016167	skin	malignant_melanoma	Substitution - coding silent
c.2180T>C; p.I727T; 9:137017818-137017818	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2403-1G>A; p.?; 9:137017347-137017347	liver	carcinoma	Unknown
c.6026T>C; p.M2009T; 9:137011003-137011003	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2403-1G>A; p.?; 9:137017347-137017347	liver	carcinoma	Unknown
c.1456_1480del25; p.V486fs*27; 9:137019252-137019276	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.6616G>A; p.A2206T; 9:137009783-137009783	skin	malignant_melanoma	Substitution - Missense
c.6914C>T; p.P2305L; 9:137008967-137008967	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3847G>T; p.A1283S; 9:137014948-137014948	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1227C>A; p.L409L; 9:137020732-137020732	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3722delC; p.P1241fs*6; 9:137015073-137015073	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2139G>A; p.V713V; 9:137017859-137017859	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4985A>C; p.Q1662P; 9:137012808-137012808	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2713G>A; p.V905M; 9:137016965-137016965	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4985A>C; p.Q1662P; 9:137012808-137012808	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4985A>C; p.Q1662P; 9:137012808-137012808	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4985A>C; p.Q1662P; 9:137012808-137012808	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1842_1843GG>AA; p.D615N; 9:137018328-137018329	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2379C>T; p.Y793Y; 9:137017525-137017525	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.454C>G; p.L152V; 9:137022464-137022464	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4915G>A; p.V1639I; 9:137012878-137012878	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4417A>G; p.M1473V; 9:137013862-137013862	liver	carcinoma	Substitution - Missense
c.4417A>G; p.M1473V; 9:137013862-137013862	liver	carcinoma	Substitution - Missense
c.7274G>T; p.R2425L; 9:137008417-137008417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3137C>T; p.S1046L; 9:137016142-137016142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3137C>T; p.S1046L; 9:137016142-137016142	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2166G>T; p.M722I; 9:137017832-137017832	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3867C>T; p.F1289F; 9:137014928-137014928	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2403C>A; p.C801*; 9:137017346-137017346	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.3867C>T; p.F1289F; 9:137014928-137014928	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5855A>T; p.Y1952F; 9:137011254-137011254	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3232G>C; p.D1078H; 9:137016047-137016047	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4335C>G; p.V1445V; 9:137013944-137013944	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2693C>T; p.T898I; 9:137016985-137016985	skin	malignant_melanoma	Substitution - Missense
c.2693C>T; p.T898I; 9:137016985-137016985	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4562C>T; p.S1521L; 9:137013307-137013307	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4562C>T; p.S1521L; 9:137013307-137013307	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4525G>A; p.A1509T; 9:137013486-137013486	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4244T>C; p.V1415A; 9:137014035-137014035	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6051G>A; p.R2017R; 9:137010978-137010978	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3057G>A; p.Q1019Q; 9:137016338-137016338	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5772C>T; p.F1924F; 9:137011434-137011434	skin	malignant_melanoma	Substitution - coding silent
c.7062G>A; p.L2354L; 9:137008737-137008737	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.290T>C; p.L97P; 9:137022851-137022851	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6495G>T; p.R2165R; 9:137009983-137009983	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3214C>G; p.Q1072E; 9:137016065-137016065	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3445G>A; p.E1149K; 9:137015744-137015744	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6414G>A; p.A2138A; 9:137010064-137010064	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2397G>A; p.M799I; 9:137017507-137017507	kidney	other; neoplasm	Substitution - Missense
c.2451C>T; p.C817C; 9:137017298-137017298	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2451C>T; p.C817C; 9:137017298-137017298	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1928A>G; p.Y643C; 9:137018243-137018243	liver	carcinoma	Substitution - Missense
c.1928A>G; p.Y643C; 9:137018243-137018243	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.6511C>T; p.L2171L; 9:137009888-137009888	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1990C>A; p.Q664K; 9:137018181-137018181	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1990C>A; p.Q664K; 9:137018181-137018181	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6885C>T; p.D2295D; 9:137008996-137008996	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6073A>T; p.T2025S; 9:137010721-137010721	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5338G>T; p.A1780S; 9:137012124-137012124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4991G>T; p.R1664L; 9:137012802-137012802	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.5952C>T; p.F1984F; 9:137011077-137011077	skin	malignant_melanoma	Substitution - coding silent
c.3243G>T; p.T1081T; 9:137016036-137016036	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.734G>A; p.G245E; 9:137021555-137021555	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense

COSMIC somatic mutation [Top]