Entrez Gene

Basic Information
Gene ID	201501
Name	ZBTB7C
Synonymous	zinc finger and BTB domain containing 7C;ZBTB7C;zinc finger and BTB domain containing 7C
Definition	B230208J24Rik\|affected by papillomavirus DNA integration in ME180 cells protein 1\|zinc finger and BTB domain containing 36\|zinc finger and BTB domain-containing 7C\|zinc finger and BTB domain-containing protein 36\|zinc finger and BTB domain-containing prot
Position	18q21.1
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 0.18.

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.1140G>A; p.P380P; 18:48039968-48039968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.459C>G; p.D153E; 18:48040649-48040649	liver	carcinoma	Substitution - Missense
c.1162G>A; p.G388R; 18:48039946-48039946	skin; neck	malignant_melanoma	Substitution - Missense
c.74A>T; p.N25I; 18:48041034-48041034	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.74A>T; p.N25I; 18:48041034-48041034	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.74A>T; p.N25I; 18:48041034-48041034	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.490G>A; p.D164N; 18:48040618-48040618	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.456G>A; p.E152E; 18:48040652-48040652	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1707C>T; p.N569N; 18:48029413-48029413	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.193G>A; p.A65T; 18:48040915-48040915	skin	malignant_melanoma	Substitution - Missense
c.754G>A; p.A252T; 18:48040354-48040354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.195C>T; p.A65A; 18:48040913-48040913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1774C>T; p.P592S; 18:48029346-48029346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.660G>T; p.G220G; 18:48040448-48040448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1300G>T; p.D434Y; 18:48029820-48029820	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.754G>T; p.A252S; 18:48040354-48040354	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.232G>A; p.D78N; 18:48040876-48040876	skin	malignant_melanoma	Substitution - Missense
c.232G>A; p.D78N; 18:48040876-48040876	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.877G>A; p.E293K; 18:48040231-48040231	skin	malignant_melanoma	Substitution - Missense
c.273C>T; p.F91F; 18:48040835-48040835	skin	malignant_melanoma	Substitution - coding silent
c.877G>A; p.E293K; 18:48040231-48040231	skin	malignant_melanoma	Substitution - Missense
c.105C>T; p.D35D; 18:48041003-48041003	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.105C>T; p.D35D; 18:48041003-48041003	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.499G>T; p.D167Y; 18:48040609-48040609	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1041C>T; p.F347F; 18:48040067-48040067	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.88G>A; p.D30N; 18:48041020-48041020	skin	malignant_melanoma	Substitution - Missense
c.548T>C; p.I183T; 18:48040560-48040560	breast	carcinoma	Substitution - Missense
c.87C>T; p.H29H; 18:48041021-48041021	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1787C>T; p.A596V; 18:48029333-48029333	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.82C>T; p.R28W; 18:48041026-48041026	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.426T>C; p.D142D; 18:48040682-48040682	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.394_395insG; p.D132fs*7; 18:48040713-48040714	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.426T>C; p.D142D; 18:48040682-48040682	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.953C>T; p.P318L; 18:48040155-48040155	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.953C>T; p.P318L; 18:48040155-48040155	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1374G>A; p.T458T; 18:48029746-48029746	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.459C>T; p.D153D; 18:48040649-48040649	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1662A>G; p.T554T; 18:48029458-48029458	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1662A>G; p.T554T; 18:48029458-48029458	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.954G>T; p.P318P; 18:48040154-48040154	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.503C>T; p.T168M; 18:48040605-48040605	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1287C>T; p.F429F; 18:48029833-48029833	skin	malignant_melanoma	Substitution - coding silent
c.1295A>G; p.N432S; 18:48029825-48029825	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.476_477insGGA; p.E162_D163insE; 18:48040631-48040632	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - In frame
c.1287C>T; p.F429F; 18:48029833-48029833	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.759G>A; p.P253P; 18:48040349-48040349	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.759G>A; p.P253P; 18:48040349-48040349	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1279G>A; p.A427T; 18:48029841-48029841	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.403delG; p.E135fs*87; 18:48040705-48040705	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.403delG; p.E135fs*87; 18:48040705-48040705	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.403delG; p.E135fs*87; 18:48040705-48040705	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.403delG; p.E135fs*87; 18:48040705-48040705	liver	carcinoma	Deletion - Frameshift
c.403delG; p.E135fs*87; 18:48040705-48040705	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.403delG; p.E135fs*87; 18:48040705-48040705	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.403delG; p.E135fs*87; 18:48040705-48040705	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.403delG; p.E135fs*87; 18:48040705-48040705	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1161C>T; p.T387T; 18:48039947-48039947	pancreas	carcinoma	Substitution - coding silent
c.403delG; p.E135fs*87; 18:48040705-48040705	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.378C>T; p.I126I; 18:48040730-48040730	skin	malignant_melanoma	Substitution - coding silent
c.879G>T; p.E293D; 18:48040229-48040229	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.616G>A; p.D206N; 18:48040492-48040492	skin	malignant_melanoma	Substitution - Missense
c.287C>T; p.T96M; 18:48040821-48040821	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.300C>T; p.T100T; 18:48040808-48040808	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.300C>T; p.T100T; 18:48040808-48040808	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.453G>T; p.E151D; 18:48040655-48040655	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.266T>C; p.L89P; 18:48040842-48040842	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.140C>A; p.T47N; 18:48040968-48040968	prostate	adenoma	Substitution - Missense
c.130G>C; p.E44Q; 18:48040978-48040978	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.742T>C; p.L248L; 18:48040366-48040366	skin	malignant_melanoma	Substitution - coding silent
c.130G>C; p.E44Q; 18:48040978-48040978	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1646G>A; p.R549Q; 18:48029474-48029474	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.460G>A; p.E154K; 18:48040648-48040648	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.460G>A; p.E154K; 18:48040648-48040648	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1095G>C; p.Q365H; 18:48040013-48040013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1090C>G; p.Q364E; 18:48040018-48040018	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1394G>A; p.R465H; 18:48029726-48029726	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.968G>A; p.G323E; 18:48040140-48040140	skin	malignant_melanoma	Substitution - Missense
c.1336C>T; p.R446W; 18:48029784-48029784	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1677C>T; p.F559F; 18:48029443-48029443	skin	malignant_melanoma	Substitution - coding silent
c.402G>A; p.G134G; 18:48040706-48040706	skin	malignant_melanoma	Substitution - coding silent
c.358G>A; p.V120M; 18:48040750-48040750	meninges	meningioma	Substitution - Missense
c.793G>A; p.G265S; 18:48040315-48040315	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>A; p.D165N; 18:48040615-48040615	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.753C>T; p.F251F; 18:48040355-48040355	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.753C>T; p.F251F; 18:48040355-48040355	skin	malignant_melanoma	Substitution - coding silent
c.753C>T; p.F251F; 18:48040355-48040355	skin	malignant_melanoma	Substitution - coding silent
c.493G>A; p.D165N; 18:48040615-48040615	skin	malignant_melanoma	Substitution - Missense
c.456G>C; p.E152D; 18:48040652-48040652	urinary_tract; bladder	carcinoma	Substitution - Missense
c.384G>A; p.E128E; 18:48040724-48040724	skin	malignant_melanoma	Substitution - coding silent
c.1100C>T; p.P367L; 18:48040008-48040008	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.61C>T; p.L21L; 18:48041047-48041047	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1221G>A; p.L407L; 18:48029899-48029899	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.960delG; p.P321fs*18; 18:48040148-48040148	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.960delG; p.P321fs*18; 18:48040148-48040148	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.960delG; p.P321fs*18; 18:48040148-48040148	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.960delG; p.P321fs*18; 18:48040148-48040148	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.231C>T; p.I77I; 18:48040877-48040877	skin	malignant_melanoma	Substitution - coding silent
c.231C>T; p.I77I; 18:48040877-48040877	skin	malignant_melanoma	Substitution - coding silent
c.451G>C; p.E151Q; 18:48040657-48040657	oesophagus	carcinoma	Substitution - Missense
c.418G>A; p.E140K; 18:48040690-48040690	skin	malignant_melanoma	Substitution - Missense
c.727G>A; p.D243N; 18:48040381-48040381	skin	malignant_melanoma	Substitution - Missense
c.981G>A; p.A327A; 18:48040127-48040127	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1300G>A; p.D434N; 18:48029820-48029820	skin	malignant_melanoma	Substitution - Missense
c.810G>A; p.L270L; 18:48040298-48040298	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.988G>A; p.D330N; 18:48040120-48040120	skin	malignant_melanoma	Substitution - Missense
c.988G>A; p.D330N; 18:48040120-48040120	prostate	adenoma	Substitution - Missense
c.1269C>A; p.I423I; 18:48029851-48029851	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.744G>C; p.L248F; 18:48040364-48040364	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1672C>G; p.L558V; 18:48029448-48029448	liver	carcinoma	Substitution - Missense
c.1672C>G; p.L558V; 18:48029448-48029448	liver	carcinoma	Substitution - Missense
c.241C>T; p.Q81*; 18:48040867-48040867	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1659G>A; p.E553E; 18:48029461-48029461	skin	malignant_melanoma	Substitution - coding silent
c.1417C>T; p.R473C; 18:48029703-48029703	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.925T>C; p.F309L; 18:48040183-48040183	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.18_19insAT; p.E7fs*63; 18:48041089-48041090	peritoneum; appendix	other; pseudomyxoma_peritonei	Insertion - Frameshift
c.505G>A; p.E169K; 18:48040603-48040603	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.715G>T; p.A239S; 18:48040393-48040393	liver	carcinoma	Substitution - Missense
c.1350C>T; p.C450C; 18:48029770-48029770	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.715G>T; p.A239S; 18:48040393-48040393	liver	carcinoma	Substitution - Missense
c.149C>T; p.S50F; 18:48040959-48040959	skin	malignant_melanoma	Substitution - Missense
c.715G>T; p.A239S; 18:48040393-48040393	liver	carcinoma	Substitution - Missense
c.715G>T; p.A239S; 18:48040393-48040393	liver	carcinoma	Substitution - Missense
c.435C>T; p.D145D; 18:48040673-48040673	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.435C>T; p.D145D; 18:48040673-48040673	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.340C>T; p.L114L; 18:48040768-48040768	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1757G>A; p.R586Q; 18:48029363-48029363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.409G>A; p.D137N; 18:48040699-48040699	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.403G>A; p.E135K; 18:48040705-48040705	skin	malignant_melanoma	Substitution - Missense
c.717C>T; p.A239A; 18:48040391-48040391	skin	malignant_melanoma	Substitution - coding silent
c.1385A>C; p.H462P; 18:48029735-48029735	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1385A>C; p.H462P; 18:48029735-48029735	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1131G>A; p.G377G; 18:48039977-48039977	skin	malignant_melanoma	Substitution - coding silent
c.1516G>A; p.V506M; 18:48029604-48029604	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.807G>A; p.Q269Q; 18:48040301-48040301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1724C>T; p.A575V; 18:48029396-48029396	skin	malignant_melanoma	Substitution - Missense
c.1849G>A; p.A617T; 18:48029271-48029271	ovary	other; neoplasm	Substitution - Missense
c.1428G>A; p.R476R; 18:48029692-48029692	skin	malignant_melanoma	Substitution - coding silent
c.220G>A; p.V74I; 18:48040888-48040888	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.194C>T; p.A65V; 18:48040914-48040914	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.373G>A; p.E125K; 18:48040735-48040735	skin	malignant_melanoma	Substitution - Missense
c.1351G>A; p.E451K; 18:48029769-48029769	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1302C>A; p.D434E; 18:48029818-48029818	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1332C>T; p.G444G; 18:48029788-48029788	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1332C>T; p.G444G; 18:48029788-48029788	liver	carcinoma	Substitution - coding silent
c.1092G>A; p.Q364Q; 18:48040016-48040016	breast	carcinoma	Substitution - coding silent
c.611C>A; p.P204H; 18:48040497-48040497	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1704G>A; p.R568R; 18:48029416-48029416	skin	malignant_melanoma	Substitution - coding silent
c.1545C>T; p.G515G; 18:48029575-48029575	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.396C>T; p.D132D; 18:48040712-48040712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.27T>C; p.I9I; 18:48041081-48041081	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.961C>A; p.P321T; 18:48040147-48040147	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.39C>T; p.F13F; 18:48041069-48041069	skin	malignant_melanoma	Substitution - coding silent
c.27T>C; p.I9I; 18:48041081-48041081	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.759G>T; p.P253P; 18:48040349-48040349	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.430G>A; p.D144N; 18:48040678-48040678	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1045C>T; p.P349S; 18:48040063-48040063	skin	malignant_melanoma	Substitution - Missense
c.805C>T; p.Q269*; 18:48040303-48040303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.874G>A; p.E292K; 18:48040234-48040234	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.328G>A; p.A110T; 18:48040780-48040780	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1203C>T; p.F401F; 18:48039905-48039905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1203C>T; p.F401F; 18:48039905-48039905	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1203C>T; p.F401F; 18:48039905-48039905	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.748C>T; p.P250S; 18:48040360-48040360	skin; extremity	malignant_melanoma	Substitution - Missense
c.1249G>A; p.E417K; 18:48029871-48029871	skin	malignant_melanoma	Substitution - Missense
c.1451C>G; p.A484G; 18:48029669-48029669	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1426C>T; p.R476W; 18:48029694-48029694	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.83G>A; p.R28Q; 18:48041025-48041025	breast	carcinoma	Substitution - Missense
c.83G>A; p.R28Q; 18:48041025-48041025	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1091A>C; p.Q364P; 18:48040017-48040017	breast	carcinoma	Substitution - Missense
c.883G>A; p.E295K; 18:48040225-48040225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1209-6T>C; p.?; 18:48029917-48029917	kidney	other; neoplasm	Unknown
c.802G>A; p.A268T; 18:48040306-48040306	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.523G>T; p.E175*; 18:48040585-48040585	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.933G>A; p.K311K; 18:48040175-48040175	skin	malignant_melanoma	Substitution - coding silent
c.1536C>T; p.G512G; 18:48029584-48029584	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.9T>C; p.N3N; 18:48041099-48041099	stomach	adenocarcinoma	Substitution - coding silent
c.630C>T; p.S210S; 18:48040478-48040478	skin	malignant_melanoma	Substitution - coding silent
c.735A>G; p.R245R; 18:48040373-48040373	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.394delG; p.D132fs*90; 18:48040714-48040714	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.394delG; p.D132fs*90; 18:48040714-48040714	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.394delG; p.D132fs*90; 18:48040714-48040714	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.870G>A; p.K290K; 18:48040238-48040238	skin	malignant_melanoma	Substitution - coding silent
c.394delG; p.D132fs*90; 18:48040714-48040714	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.394delG; p.D132fs*90; 18:48040714-48040714	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1186A>G; p.I396V; 18:48039922-48039922	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1656G>A; p.E552E; 18:48029464-48029464	skin	malignant_melanoma	Substitution - coding silent
c.577G>C; p.D193H; 18:48040531-48040531	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.246T>C; p.P82P; 18:48040862-48040862	stomach	carcinoma; adenocarcinoma	Substitution - coding silent

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]