Entrez Gene

Basic Information
Gene ID	317
Name	APAF1
Synonymous	apoptotic peptidase activating factor 1;APAF1;apoptotic peptidase activating factor 1
Definition	apoptotic protease-activating factor 1
Position	12q23
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1387C>T; p.Q463*; 12:98667537-98667537	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2305-1G>T; p.?; 12:98699407-98699407	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.682C>T; p.R228C; 12:98659315-98659315	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.437A>T; p.E146V; 12:98649595-98649595	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2304+2T>C; p.?; 12:98686875-98686875	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.247C>T; p.L83F; 12:98648734-98648734	breast	carcinoma	Substitution - Missense
c.3159G>A; p.L1053L; 12:98723267-98723267	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1903G>A; p.A635T; 12:98677534-98677534	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.614G>A; p.R205Q; 12:98659247-98659247	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.511C>T; p.H171Y; 12:98649669-98649669	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1406A>G; p.Q469R; 12:98667556-98667556	liver	carcinoma	Substitution - Missense
c.436G>A; p.E146K; 12:98649594-98649594	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.987A>G; p.A329A; 12:98665584-98665584	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1840C>G; p.H614D; 12:98677471-98677471	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1748A>T; p.Q583L; 12:98671674-98671674	oesophagus	carcinoma	Substitution - Missense
c.3017T>A; p.V1006E; 12:98715485-98715485	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3017T>A; p.V1006E; 12:98715485-98715485	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.534C>T; p.F178F; 12:98659167-98659167	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1301G>A; p.R434H; 12:98666296-98666296	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3441C>T; p.D1147D; 12:98725525-98725525	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1377G>A; p.K459K; 12:98667527-98667527	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1249G>A; p.E417K; 12:98666244-98666244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2135A>G; p.H712R; 12:98683231-98683231	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.946G>T; p.E316*; 12:98662797-98662797	liver	carcinoma	Substitution - Nonsense
c.1797_1798insA; p.N602fs*24; 12:98677428-98677429	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1812G>A; p.T604T; 12:98677443-98677443	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1812G>A; p.T604T; 12:98677443-98677443	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2651G>A; p.W884*; 12:98706540-98706540	large_intestine; colon	adenoma	Substitution - Nonsense
c.1879G>C; p.G627R; 12:98677510-98677510	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.139-1G>A; p.?; 12:98648625-98648625	liver	carcinoma	Unknown
c.1055G>T; p.R352I; 12:98665652-98665652	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2689delT; p.L898fs*1; 12:98706578-98706578	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3601T>C; p.W1201R; 12:98732420-98732420	skin; extremity	malignant_melanoma	Substitution - Missense
c.176T>C; p.M59T; 12:98648663-98648663	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1455C>G; p.N485K; 12:98667605-98667605	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1939G>T; p.G647*; 12:98680295-98680295	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2829A>T; p.I943I; 12:98708692-98708692	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.574A>G; p.K192E; 12:98659207-98659207	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1195-5C>T; p.?; 12:98666185-98666185	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.1010G>A; p.R337H; 12:98665607-98665607	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.627T>C; p.D209D; 12:98659260-98659260	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2833C>T; p.R945C; 12:98708696-98708696	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.945A>T; p.K315N; 12:98662796-98662796	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1539A>C; p.K513N; 12:98671017-98671017	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3360T>C; p.L1120L; 12:98725444-98725444	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2207G>A; p.R736Q; 12:98686776-98686776	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2207G>A; p.R736Q; 12:98686776-98686776	pancreas	carcinoma	Substitution - Missense
c.17G>A; p.R6Q; 12:98648376-98648376	breast	carcinoma	Substitution - Missense
c.1731T>G; p.Y577*; 12:98671657-98671657	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2207G>A; p.R736Q; 12:98686776-98686776	pancreas	carcinoma	Substitution - Missense
c.793A>G; p.R265G; 12:98662538-98662538	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1505C>A; p.A502D; 12:98670983-98670983	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.425A>G; p.K142R; 12:98649583-98649583	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1798_1799delAA; p.N602fs*23; 12:98677429-98677430	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.676C>T; p.R226C; 12:98659309-98659309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2485A>T; p.S829C; 12:98703389-98703389	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.633delT; p.S213fs*18; 12:98659266-98659266	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1086G>T; p.E362D; 12:98665683-98665683	breast	carcinoma	Substitution - Missense
c.201C>A; p.S67S; 12:98648688-98648688	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.418C>T; p.L140F; 12:98649576-98649576	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.575A>C; p.K192T; 12:98659208-98659208	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1608+1_1608+2insTA; p.?; 12:98671087-98671088	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.2474A>C; p.D825A; 12:98703378-98703378	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3184T>C; p.S1062P; 12:98723292-98723292	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.177G>T; p.M59I; 12:98648664-98648664	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2127C>T; p.N709N; 12:98683223-98683223	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2595G>A; p.E865E; 12:98703499-98703499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.771G>A; p.Q257Q; 12:98662516-98662516	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.153A>T; p.Q51H; 12:98648640-98648640	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2316G>A; p.A772A; 12:98699419-98699419	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.92G>A; p.S31N; 12:98648451-98648451	thyroid	carcinoma	Substitution - Missense
c.3001C>A; p.Q1001K; 12:98715469-98715469	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2316G>A; p.A772A; 12:98699419-98699419	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1975G>A; p.E659K; 12:98680331-98680331	breast	carcinoma	Substitution - Missense
c.3135A>T; p.E1045D; 12:98723243-98723243	liver	carcinoma	Substitution - Missense
c.3135A>T; p.E1045D; 12:98723243-98723243	liver	carcinoma	Substitution - Missense
c.3191A>G; p.D1064G; 12:98723299-98723299	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2068G>A; p.E690K; 12:98683164-98683164	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1799A>G; p.K600R; 12:98677430-98677430	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2329G>T; p.E777*; 12:98699432-98699432	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1309T>A; p.L437I; 12:98666304-98666304	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.139-10delT; p.?; 12:98648616-98648616	stomach	adenocarcinoma	Unknown
c.2954T>G; p.I985S; 12:98712431-98712431	liver	carcinoma	Substitution - Missense
c.2800G>A; p.E934K; 12:98708663-98708663	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3224G>A; p.G1075E; 12:98723658-98723658	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.622C>T; p.Q208*; 12:98659255-98659255	skin	malignant_melanoma	Substitution - Nonsense
c.3224G>A; p.G1075E; 12:98723658-98723658	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1522G>A; p.D508N; 12:98671000-98671000	skin	malignant_melanoma	Substitution - Missense
c.1435G>A; p.D479N; 12:98667585-98667585	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2262T>G; p.D754E; 12:98686831-98686831	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1265C>T; p.S422F; 12:98666260-98666260	skin	malignant_melanoma	Substitution - Missense
c.676C>A; p.R226S; 12:98659309-98659309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2058T>C; p.S686S; 12:98683154-98683154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1431G>T; p.Q477H; 12:98667581-98667581	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Missense
c.2886T>C; p.A962A; 12:98712363-98712363	skin	malignant_melanoma	Substitution - coding silent
c.1754A>G; p.K585R; 12:98671680-98671680	bone; tibia	chondrosarcoma	Substitution - Missense
c.3121C>A; p.R1041R; 12:98723229-98723229	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.392A>T; p.K131M; 12:98649550-98649550	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.392A>T; p.K131M; 12:98649550-98649550	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2115C>T; p.C705C; 12:98683211-98683211	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3040G>A; p.D1014N; 12:98715508-98715508	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.515C>G; p.S172C; 12:98649673-98649673	breast	carcinoma	Substitution - Missense
c.3673G>A; p.V1225M; 12:98732492-98732492	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3673G>A; p.V1225M; 12:98732492-98732492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2812C>T; p.L938F; 12:98708675-98708675	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1360C>G; p.Q454E; 12:98666355-98666355	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1917A>T; p.L639F; 12:98677548-98677548	skin	malignant_melanoma	Substitution - Missense
c.437A>G; p.E146G; 12:98649595-98649595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.600G>T; p.Q200H; 12:98659233-98659233	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.437A>G; p.E146G; 12:98649595-98649595	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1062G>T; p.R354S; 12:98665659-98665659	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2121C>T; p.F707F; 12:98683217-98683217	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1232T>C; p.V411A; 12:98666227-98666227	skin	malignant_melanoma	Substitution - Missense
c.239A>T; p.Y80F; 12:98648726-98648726	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.13G>C; p.A5P; 12:98648372-98648372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.508G>T; p.D170Y; 12:98649666-98649666	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.125A>T; p.K42I; 12:98648484-98648484	liver	carcinoma	Substitution - Missense
c.613C>A; p.R205R; 12:98659246-98659246	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1410G>A; p.P470P; 12:98667560-98667560	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1410G>A; p.P470P; 12:98667560-98667560	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1944G>C; p.E648D; 12:98680300-98680300	pancreas	carcinoma	Substitution - Missense
c.2250A>T; p.R750S; 12:98686819-98686819	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2114G>A; p.C705Y; 12:98683210-98683210	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1132G>T; p.D378Y; 12:98665729-98665729	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1593T>C; p.H531H; 12:98671071-98671071	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.304T>G; p.S102A; 12:98648791-98648791	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3534C>A; p.G1178G; 12:98727250-98727250	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1071G>A; p.S357S; 12:98665668-98665668	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2155G>A; p.G719R; 12:98683251-98683251	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3500C>T; p.P1167L; 12:98727216-98727216	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2358delC; p.F787fs*2; 12:98699461-98699461	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2658T>C; p.H886H; 12:98706547-98706547	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.59T>C; p.I20T; 12:98648418-98648418	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.59T>C; p.I20T; 12:98648418-98648418	stomach	adenocarcinoma	Substitution - Missense
c.438A>G; p.E146E; 12:98649596-98649596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2963T>C; p.L988S; 12:98715431-98715431	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.438A>G; p.E146E; 12:98649596-98649596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.438A>G; p.E146E; 12:98649596-98649596	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.438A>G; p.E146E; 12:98649596-98649596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2120T>C; p.F707S; 12:98683216-98683216	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2038A>C; p.K680Q; 12:98680394-98680394	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2339G>T; p.S780I; 12:98699442-98699442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1798delA; p.N602fs*8; 12:98677429-98677429	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3127C>T; p.H1043Y; 12:98723235-98723235	liver	carcinoma	Substitution - Missense
c.3127C>T; p.H1043Y; 12:98723235-98723235	liver	carcinoma	Substitution - Missense
c.1798delA; p.N602fs*8; 12:98677429-98677429	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1798delA; p.N602fs*8; 12:98677429-98677429	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1798delA; p.N602fs*8; 12:98677429-98677429	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3331-1G>C; p.?; 12:98725414-98725414	urinary_tract; bladder	carcinoma	Unknown
c.2248A>G; p.R750G; 12:98686817-98686817	liver	carcinoma	Substitution - Missense
c.2794G>T; p.E932*; 12:98708657-98708657	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1997C>G; p.S666C; 12:98680353-98680353	breast	carcinoma	Substitution - Missense
c.2510C>T; p.T837M; 12:98703414-98703414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3649G>T; p.G1217*; 12:98732468-98732468	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1785G>A; p.L595L; 12:98671711-98671711	breast	carcinoma	Substitution - coding silent
c.1646C>G; p.S549C; 12:98671572-98671572	oesophagus	carcinoma	Substitution - Missense
c.392A>G; p.K131R; 12:98649550-98649550	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.392A>G; p.K131R; 12:98649550-98649550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.392A>G; p.K131R; 12:98649550-98649550	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.392A>G; p.K131R; 12:98649550-98649550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.392A>G; p.K131R; 12:98649550-98649550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2014A>G; p.I672V; 12:98680370-98680370	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.482C>G; p.S161C; 12:98649640-98649640	breast	carcinoma	Substitution - Missense
c.149A>T; p.Q50L; 12:98648636-98648636	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.236G>T; p.G79V; 12:98648723-98648723	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2057C>A; p.S686Y; 12:98683153-98683153	breast	carcinoma	Substitution - Missense
c.135T>C; p.N45N; 12:98648494-98648494	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3615C>T; p.V1205V; 12:98732434-98732434	skin	malignant_melanoma	Substitution - coding silent
c.2674C>T; p.P892S; 12:98706563-98706563	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2365A>T; p.N789Y; 12:98699468-98699468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1357C>T; p.L453F; 12:98666352-98666352	skin	malignant_melanoma	Substitution - Missense
c.2021C>T; p.T674I; 12:98680377-98680377	skin	malignant_melanoma	Substitution - Missense
c.2773G>T; p.E925*; 12:98708636-98708636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2316delG; p.T773fs*11; 12:98699419-98699419	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.1396A>T; p.R466*; 12:98667546-98667546	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.3381C>T; p.N1127N; 12:98725465-98725465	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1655G>A; p.G552E; 12:98671581-98671581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2111G>A; p.C704Y; 12:98683207-98683207	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.796G>T; p.D266Y; 12:98662541-98662541	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2200G>T; p.E734*; 12:98686769-98686769	breast	carcinoma	Substitution - Nonsense
c.2156G>A; p.G719E; 12:98683252-98683252	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1436A>G; p.D479G; 12:98667586-98667586	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2156G>A; p.G719E; 12:98683252-98683252	liver	carcinoma	Substitution - Missense
c.1712C>T; p.P571L; 12:98671638-98671638	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2615G>A; p.R872H; 12:98706504-98706504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2615G>A; p.R872H; 12:98706504-98706504	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2305-2A>C; p.?; 12:98699406-98699406	kidney	carcinoma; papillary_renal_cell_carcinoma	Unknown
c.1966C>T; p.H656Y; 12:98680322-98680322	breast	carcinoma	Substitution - Missense
c.3679C>T; p.P1227S; 12:98732498-98732498	prostate	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]