Entrez Gene

Basic Information
Gene ID	23365
Name	ARHGEF12
Synonymous	Rho guanine nucleotide exchange factor (GEF) 12;ARHGEF12;Rho guanine nucleotide exchange factor (GEF) 12
Definition	leukemia-associated RhoGEF\|leukemia-associated rho guanine nucleotide exchange factor\|rho guanine nucleotide exchange factor 12
Position	11q23.3
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.12.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2027C>T; p.S676F; 11:120451695-120451695	NS	malignant_melanoma	Substitution - Missense
c.2583C>T; p.I861I; 11:120460727-120460727	skin	malignant_melanoma	Substitution - coding silent
c.4440G>A; p.W1480*; 11:120481462-120481462	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4104G>A; p.M1368I; 11:120480297-120480297	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.4104G>A; p.M1368I; 11:120480297-120480297	pancreas	carcinoma	Substitution - Missense
c.1204-1G>T; p.?; 11:120442103-120442103	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1178T>C; p.V393A; 11:120441792-120441792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3896A>G; p.N1299S; 11:120480089-120480089	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1390T>C; p.Y464H; 11:120446447-120446447	breast	carcinoma	Substitution - Missense
c.3070G>A; p.G1024R; 11:120474596-120474596	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.177G>A; p.E59E; 11:120409428-120409428	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.4396G>T; p.A1466S; 11:120481418-120481418	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1165T>C; p.L389L; 11:120441779-120441779	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.338G>A; p.R113Q; 11:120421842-120421842	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.338G>A; p.R113Q; 11:120421842-120421842	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1724T>A; p.L575H; 11:120448335-120448335	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.338G>A; p.R113Q; 11:120421842-120421842	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4148A>T; p.D1383V; 11:120480341-120480341	breast	carcinoma	Substitution - Missense
c.3454G>A; p.G1152R; 11:120477448-120477448	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3454G>A; p.G1152R; 11:120477448-120477448	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.217G>A; p.V73I; 11:120420770-120420770	pancreas	carcinoma	Substitution - Missense
c.2973G>A; p.Q991Q; 11:120473067-120473067	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.142G>T; p.D48Y; 11:120407823-120407823	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3069A>G; p.E1023E; 11:120474595-120474595	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.361C>G; p.L121V; 11:120424370-120424370	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1924G>C; p.D642H; 11:120451592-120451592	thyroid	other; neoplasm	Substitution - Missense
c.2293G>T; p.D765Y; 11:120458147-120458147	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.33G>C; p.R11S; 11:120406118-120406118	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.280G>A; p.V94I; 11:120420833-120420833	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4028T>C; p.L1343P; 11:120480221-120480221	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4335C>T; p.I1445I; 11:120481357-120481357	skin	malignant_melanoma	Substitution - coding silent
c.1873C>T; p.R625C; 11:120451541-120451541	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4335C>T; p.I1445I; 11:120481357-120481357	skin	malignant_melanoma	Substitution - coding silent
c.1669G>T; p.V557L; 11:120448280-120448280	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4013G>A; p.R1338Q; 11:120480206-120480206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2491_2492insT; p.S833fs*15; 11:120459284-120459285	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.488C>T; p.P163L; 11:120428150-120428150	skin	malignant_melanoma	Substitution - Missense
c.4273C>A; p.Q1425K; 11:120481295-120481295	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3566C>T; p.S1189L; 11:120478189-120478189	skin	malignant_melanoma	Substitution - Missense
c.2619C>T; p.S873S; 11:120465242-120465242	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2541A>G; p.E847E; 11:120460685-120460685	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1589+9T>C; p.?; 11:120447094-120447094	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.416A>G; p.Y139C; 11:120428078-120428078	liver	carcinoma	Substitution - Missense
c.3051A>C; p.K1017N; 11:120474577-120474577	skin	malignant_melanoma	Substitution - Missense
c.2719C>T; p.R907*; 11:120465342-120465342	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2234G>A; p.S745N; 11:120458088-120458088	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3708C>T; p.I1236I; 11:120478331-120478331	skin	malignant_melanoma	Substitution - coding silent
c.1968A>C; p.T656T; 11:120451636-120451636	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3453-8delC; p.?; 11:120477439-120477439	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.127G>T; p.D43Y; 11:120407808-120407808	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4157A>G; p.E1386G; 11:120480350-120480350	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3804T>G; p.G1268G; 11:120479997-120479997	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4157A>G; p.E1386G; 11:120480350-120480350	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.924+9T>C; p.?; 11:120431920-120431920	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.3396A>T; p.A1132A; 11:120477249-120477249	breast	carcinoma	Substitution - coding silent
c.3033G>A; p.R1011R; 11:120473127-120473127	skin	malignant_melanoma	Substitution - coding silent
c.982G>A; p.E328K; 11:120437365-120437365	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.982G>A; p.E328K; 11:120437365-120437365	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1513C>T; p.R505*; 11:120447009-120447009	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1350G>T; p.K450N; 11:120446407-120446407	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3799C>T; p.L1267L; 11:120479992-120479992	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.590A>T; p.E197V; 11:120429444-120429444	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2518C>G; p.Q840E; 11:120459311-120459311	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.742C>A; p.Q248K; 11:120429790-120429790	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3097G>T; p.D1033Y; 11:120474623-120474623	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3990T>G; p.T1330T; 11:120480183-120480183	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1619A>G; p.K540R; 11:120447903-120447903	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4192G>A; p.G1398R; 11:120480385-120480385	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.3124C>G; p.L1042V; 11:120475354-120475354	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.202C>G; p.L68V; 11:120420755-120420755	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1960G>T; p.E654*; 11:120451628-120451628	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3139C>G; p.L1047V; 11:120475369-120475369	breast	carcinoma	Substitution - Missense
c.1749G>T; p.K583N; 11:120449120-120449120	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1525C>T; p.R509*; 11:120447021-120447021	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.4412delC; p.E1473fs*38; 11:120481434-120481434	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1555G>A; p.A519T; 11:120447051-120447051	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1243T>C; p.S415P; 11:120442143-120442143	skin	malignant_melanoma	Substitution - Missense
c.3941C>T; p.P1314L; 11:120480134-120480134	skin	malignant_melanoma	Substitution - Missense
c.3941C>T; p.P1314L; 11:120480134-120480134	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1826G>A; p.R609H; 11:120449197-120449197	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2517T>G; p.L839L; 11:120459310-120459310	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.57-5T>C; p.?; 11:120407733-120407733	liver	carcinoma	Unknown
c.847A>T; p.T283S; 11:120431834-120431834	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1683G>A; p.E561E; 11:120448294-120448294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4233C>T; p.I1411I; 11:120480426-120480426	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - coding silent
c.950G>T; p.R317I; 11:120437333-120437333	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1249G>A; p.E417K; 11:120442149-120442149	skin	malignant_melanoma	Substitution - Missense
c.4328C>T; p.T1443I; 11:120481350-120481350	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2779A>T; p.K927*; 11:120467233-120467233	liver	carcinoma	Substitution - Nonsense
c.2624C>T; p.P875L; 11:120465247-120465247	skin; arm	malignant_melanoma	Substitution - Missense
c.109G>A; p.E37K; 11:120407790-120407790	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.921A>T; p.A307A; 11:120431908-120431908	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.466C>T; p.L156F; 11:120428128-120428128	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3820G>A; p.V1274I; 11:120480013-120480013	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.4396G>A; p.A1466T; 11:120481418-120481418	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2008G>C; p.A670P; 11:120451676-120451676	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.524C>G; p.S175C; 11:120428186-120428186	urinary_tract; bladder	carcinoma	Substitution - Missense
c.414C>G; p.S138S; 11:120428076-120428076	pancreas	carcinoma	Substitution - coding silent
c.414C>G; p.S138S; 11:120428076-120428076	pancreas	carcinoma	Substitution - coding silent
c.4405C>A; p.P1469T; 11:120481427-120481427	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4574C>G; p.T1525S; 11:120484457-120484457	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1229A>G; p.Y410C; 11:120442129-120442129	liver	carcinoma	Substitution - Missense
c.1554T>C; p.C518C; 11:120447050-120447050	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1229A>G; p.Y410C; 11:120442129-120442129	liver	carcinoma	Substitution - Missense
c.2683C>T; p.L895L; 11:120465306-120465306	skin	malignant_melanoma	Substitution - coding silent
c.3378A>G; p.L1126L; 11:120477231-120477231	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3010T>C; p.Y1004H; 11:120473104-120473104	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.146G>T; p.S49I; 11:120409397-120409397	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4467G>C; p.E1489D; 11:120481489-120481489	breast	carcinoma	Substitution - Missense
c.1144C>T; p.P382S; 11:120441758-120441758	prostate	carcinoma	Substitution - Missense
c.1197G>A; p.A399A; 11:120441811-120441811	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1197G>A; p.A399A; 11:120441811-120441811	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3116A>C; p.Y1039S; 11:120475346-120475346	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.216C>T; p.C72C; 11:120420769-120420769	pancreas	carcinoma	Substitution - coding silent
c.1295G>T; p.R432L; 11:120442195-120442195	central_nervous_system; brain	glioma	Substitution - Missense
c.3122T>C; p.L1041S; 11:120475352-120475352	stomach	adenocarcinoma	Substitution - Missense
c.1252A>G; p.T418A; 11:120442152-120442152	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3976T>C; p.Y1326H; 11:120480169-120480169	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.717C>T; p.I239I; 11:120429765-120429765	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2764C>A; p.R922S; 11:120467218-120467218	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3868G>A; p.G1290R; 11:120480061-120480061	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2221C>A; p.R741R; 11:120457752-120457752	liver	carcinoma	Substitution - coding silent
c.2977C>T; p.R993C; 11:120473071-120473071	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.342C>T; p.I114I; 11:120421846-120421846	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2584G>A; p.D862N; 11:120460728-120460728	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1781G>A; p.R594Q; 11:120449152-120449152	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.489G>A; p.P163P; 11:120428151-120428151	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1781G>A; p.R594Q; 11:120449152-120449152	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1726C>A; p.P576T; 11:120448337-120448337	skin	malignant_melanoma	Substitution - Missense
c.4441G>T; p.G1481*; 11:120481463-120481463	breast	carcinoma	Substitution - Nonsense
c.2447G>A; p.R816Q; 11:120459240-120459240	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1659G>T; p.K553N; 11:120448270-120448270	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2173G>T; p.E725*; 11:120457234-120457234	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3363T>G; p.T1121T; 11:120476746-120476746	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4013G>T; p.R1338L; 11:120480206-120480206	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.471C>T; p.A157A; 11:120428133-120428133	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.714G>T; p.E238D; 11:120429762-120429762	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2978G>A; p.R993H; 11:120473072-120473072	large_intestine; colon	carcinoma	Substitution - Missense
c.3319G>A; p.A1107T; 11:120476702-120476702	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3319G>A; p.A1107T; 11:120476702-120476702	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1450C>T; p.R484W; 11:120446507-120446507	breast	carcinoma	Substitution - Missense
c.2699C>A; p.S900Y; 11:120465322-120465322	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2699C>A; p.S900Y; 11:120465322-120465322	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3463G>A; p.D1155N; 11:120477457-120477457	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.685C>T; p.R229*; 11:120429733-120429733	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.685C>T; p.R229*; 11:120429733-120429733	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.4323C>A; p.P1441P; 11:120481345-120481345	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.77G>A; p.R26Q; 11:120407758-120407758	breast	carcinoma	Substitution - Missense
c.77G>A; p.R26Q; 11:120407758-120407758	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1093-1G>T; p.?; 11:120441706-120441706	lung	carcinoma; adenocarcinoma	Unknown
c.77G>A; p.R26Q; 11:120407758-120407758	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3799C>G; p.L1267V; 11:120479992-120479992	breast	carcinoma	Substitution - Missense
c.4153C>T; p.R1385C; 11:120480346-120480346	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.180G>T; p.E60D; 11:120409431-120409431	liver	carcinoma	Substitution - Missense
c.3573A>C; p.K1191N; 11:120478196-120478196	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2003C>T; p.S668F; 11:120451671-120451671	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3926G>T; p.G1309V; 11:120480119-120480119	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.3926G>T; p.G1309V; 11:120480119-120480119	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4354C>G; p.H1452D; 11:120481376-120481376	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.946G>T; p.E316*; 11:120437329-120437329	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.22A>G; p.I8V; 11:120337265-120337265	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1547G>A; p.R516Q; 11:120447043-120447043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.545C>G; p.S182C; 11:120428207-120428207	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2399G>T; p.R800I; 11:120459192-120459192	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2295T>C; p.D765D; 11:120458149-120458149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3509C>T; p.S1170L; 11:120477503-120477503	skin	malignant_melanoma	Substitution - Missense
c.25A>T; p.T9S; 11:120337268-120337268	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3567G>A; p.S1189S; 11:120478190-120478190	breast	carcinoma	Substitution - coding silent
c.3741G>A; p.R1247R; 11:120478364-120478364	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.676G>A; p.D226N; 11:120429724-120429724	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3940C>T; p.P1314S; 11:120480133-120480133	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3725C>T; p.P1242L; 11:120478348-120478348	skin	malignant_melanoma	Substitution - Missense
c.3333A>G; p.E1111E; 11:120476716-120476716	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3085A>G; p.K1029E; 11:120474611-120474611	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2135A>T; p.D712V; 11:120457196-120457196	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4325T>C; p.M1442T; 11:120481347-120481347	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1906G>A; p.V636M; 11:120451574-120451574	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.457C>T; p.Q153*; 11:120428119-120428119	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.4325T>C; p.M1442T; 11:120481347-120481347	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.413C>T; p.S138F; 11:120428075-120428075	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2623C>T; p.P875S; 11:120465246-120465246	skin; arm	malignant_melanoma	Substitution - Missense
c.2114G>A; p.R705H; 11:120457175-120457175	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2114G>A; p.R705H; 11:120457175-120457175	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2114G>A; p.R705H; 11:120457175-120457175	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2740G>C; p.D914H; 11:120467194-120467194	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3364G>A; p.V1122I; 11:120476747-120476747	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2712G>T; p.K904N; 11:120465335-120465335	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1365C>T; p.L455L; 11:120446422-120446422	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.664-9A>C; p.?; 11:120429703-120429703	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3986G>A; p.R1329Q; 11:120480179-120480179	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2437T>C; p.F813L; 11:120459230-120459230	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2447G>T; p.R816L; 11:120459240-120459240	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1263C>G; p.I421M; 11:120442163-120442163	breast	carcinoma	Substitution - Missense
c.2597A>T; p.E866V; 11:120460741-120460741	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1162T>G; p.F388V; 11:120441776-120441776	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1162T>G; p.F388V; 11:120441776-120441776	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1688G>A; p.R563Q; 11:120448299-120448299	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1162T>G; p.F388V; 11:120441776-120441776	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1162T>G; p.F388V; 11:120441776-120441776	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.345C>G; p.I115M; 11:120421849-120421849	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3603G>A; p.G1201G; 11:120478226-120478226	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.378T>A; p.N126K; 11:120424387-120424387	pancreas	carcinoma	Substitution - Missense
c.1385G>A; p.R462H; 11:120446442-120446442	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2557C>T; p.R853*; 11:120460701-120460701	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1874G>A; p.R625H; 11:120451542-120451542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2557C>T; p.R853*; 11:120460701-120460701	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1793C>T; p.P598L; 11:120449164-120449164	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3239_3243delTTAAG; p.K1081fs*12; 11:120475469-120475473	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.2602T>C; p.L868L; 11:120460746-120460746	pancreas	carcinoma	Substitution - coding silent
c.4389C>A; p.S1463S; 11:120481411-120481411	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4212G>A; p.E1404E; 11:120480405-120480405	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3811G>A; p.E1271K; 11:120480004-120480004	ovary	other; neoplasm	Substitution - Missense
c.1303C>T; p.H435Y; 11:120445422-120445422	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3317G>A; p.G1106D; 11:120476700-120476700	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3317G>A; p.G1106D; 11:120476700-120476700	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1303C>T; p.H435Y; 11:120445422-120445422	pancreas	carcinoma	Substitution - Missense
c.3719A>C; p.H1240P; 11:120478342-120478342	breast	carcinoma	Substitution - Missense
c.3226T>C; p.F1076L; 11:120475456-120475456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.156G>T; p.K52N; 11:120409407-120409407	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3582T>C; p.S1194S; 11:120478205-120478205	skin	malignant_melanoma	Substitution - coding silent
c.1322C>T; p.P441L; 11:120445441-120445441	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3366C>T; p.V1122V; 11:120477219-120477219	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1898C>A; p.P633H; 11:120451566-120451566	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.819G>A; p.G273G; 11:120431806-120431806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1737+7A>C; p.?; 11:120448355-120448355	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1737+7A>C; p.?; 11:120448355-120448355	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.3740G>A; p.R1247Q; 11:120478363-120478363	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4095G>A; p.M1365I; 11:120480288-120480288	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2605C>T; p.L869L; 11:120460749-120460749	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.778G>T; p.A260S; 11:120429826-120429826	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4450G>A; p.E1484K; 11:120481472-120481472	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4450G>A; p.E1484K; 11:120481472-120481472	large_intestine; colon	carcinoma	Substitution - Missense
c.778G>T; p.A260S; 11:120429826-120429826	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.3547T>C; p.L1183L; 11:120478170-120478170	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2625A>T; p.P875P; 11:120465248-120465248	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3211G>C; p.D1071H; 11:120475441-120475441	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.308C>T; p.A103V; 11:120421812-120421812	skin	malignant_melanoma	Substitution - Missense
c.1564A>T; p.I522F; 11:120447060-120447060	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.440G>A; p.R147H; 11:120428102-120428102	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.753G>A; p.E251E; 11:120429801-120429801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.925-1G>C; p.?; 11:120437307-120437307	lung	carcinoma; adenocarcinoma	Unknown
c.1814G>A; p.R605Q; 11:120449185-120449185	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4584C>T; p.C1528C; 11:120484467-120484467	central_nervous_system; brain	glioma	Substitution - coding silent
c.512C>T; p.P171L; 11:120428174-120428174	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.512C>T; p.P171L; 11:120428174-120428174	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2733T>A; p.F911L; 11:120465356-120465356	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4268C>T; p.P1423L; 11:120481290-120481290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4021G>A; p.V1341M; 11:120480214-120480214	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1018G>A; p.G340R; 11:120440147-120440147	skin	malignant_melanoma	Substitution - Missense
c.1939C>T; p.R647C; 11:120451607-120451607	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.656G>A; p.R219Q; 11:120429510-120429510	skin	malignant_melanoma	Substitution - Missense
c.1444G>T; p.D482Y; 11:120446501-120446501	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2237T>C; p.V746A; 11:120458091-120458091	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.4624G>T; p.D1542Y; 11:120484507-120484507	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3550G>T; p.E1184*; 11:120478173-120478173	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]