Entrez Gene

Basic Information
Gene ID	10664
Name	CTCF
Synonymous	CCCTC-binding factor (zinc finger protein);CTCF;CCCTC-binding factor (zinc finger protein)
Definition	11 zinc finger transcriptional repressor\|11-zinc finger protein\|CTCFL paralog\|transcriptional repressor CTCF
Position	16q21-q22.3
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 0.48.

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.139G>T; p.G47W; 16:67610971-67610971	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.838A>C; p.N280H; 16:67612007-67612007	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1738C>A; p.P580T; 16:67629434-67629434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1548C>T; p.T516T; 16:67628399-67628399	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.40G>A; p.E14K; 16:67610872-67610872	thyroid	other; neoplasm	Substitution - Missense
c.1025G>A; p.R342H; 16:67616817-67616817	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1163G>A; p.S388N; 16:67620773-67620773	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1548C>T; p.T516T; 16:67628399-67628399	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1983G>A; p.Q661Q; 16:67636835-67636835	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1951C>T; p.R651W; 16:67636803-67636803	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.626_627delAG; p.S210fs*19; 16:67611458-67611459	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1089C>T; p.V363V; 16:67620699-67620699	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.948_949delCA; p.T317fs*91; 16:67612117-67612118	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.2145C>G; p.D715E; 16:67637833-67637833	liver	carcinoma	Substitution - Missense
c.2145C>G; p.D715E; 16:67637833-67637833	liver	carcinoma	Substitution - Missense
c.781+2T>G; p.?; 16:67611615-67611615	breast	carcinoma	Unknown
c.781+2T>G; p.?; 16:67611615-67611615	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.405delG; p.A137fs*17; 16:67611237-67611237	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.43A>T; p.T15S; 16:67610875-67610875	thyroid	other; neoplasm	Substitution - Missense
c.877C>A; p.P293T; 16:67612046-67612046	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1133C>T; p.P378L; 16:67620743-67620743	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.767_771delAAATT; p.I257fs*11; 16:67611599-67611603	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.940_941insAC; p.G318fs*16; 16:67612109-67612110	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.940_941insAC; p.G318fs*16; 16:67612109-67612110	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1507G>A; p.A503T; 16:67626704-67626704	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1133C>T; p.P378L; 16:67620743-67620743	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1566delT; p.Y523fs*61; 16:67628417-67628417	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.999C>T; p.T333T; 16:67616791-67616791	skin	malignant_melanoma	Substitution - coding silent
c.1332A>T; p.T444T; 16:67621566-67621566	oesophagus	carcinoma	Substitution - coding silent
c.552_553insC; p.Q186fs*5; 16:67611384-67611385	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.552_553insC; p.Q186fs*5; 16:67611384-67611385	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1342C>T; p.R448*; 16:67621576-67621576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1342C>T; p.R448*; 16:67621576-67621576	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.1342C>T; p.R448*; 16:67621576-67621576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1342C>T; p.R448*; 16:67621576-67621576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1342C>T; p.R448*; 16:67621576-67621576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1342C>T; p.R448*; 16:67621576-67621576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1407C>A; p.C469*; 16:67626604-67626604	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1342C>T; p.R448*; 16:67621576-67621576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1066T>C; p.C356R; 16:67616858-67616858	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1342C>T; p.R448*; 16:67621576-67621576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1342C>T; p.R448*; 16:67621576-67621576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1342C>T; p.R448*; 16:67621576-67621576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.649G>T; p.E217*; 16:67611481-67611481	liver	carcinoma	Substitution - Nonsense
c.214C>T; p.Q72*; 16:67611046-67611046	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.214C>T; p.Q72*; 16:67611046-67611046	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.71C>G; p.T24S; 16:67610903-67610903	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1181T>C; p.L394P; 16:67620791-67620791	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1569C>A; p.Y523*; 16:67628420-67628420	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2059G>T; p.E687*; 16:67637747-67637747	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1061C>T; p.S354F; 16:67616853-67616853	urinary_tract; bladder	carcinoma	Substitution - Missense
c.862C>G; p.H288D; 16:67612031-67612031	breast	carcinoma	Substitution - Missense
c.1061C>T; p.S354F; 16:67616853-67616853	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1061C>T; p.S354F; 16:67616853-67616853	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1061C>T; p.S354F; 16:67616853-67616853	skin	malignant_melanoma	Substitution - Missense
c.1132C>G; p.P378A; 16:67620742-67620742	breast	carcinoma	Substitution - Missense
c.591T>A; p.Y197*; 16:67611423-67611423	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.782-1_782insTAC; p.G261>VR; 16:67611950-67611951	breast	carcinoma	Complex - insertion inframe
c.1444C>A; p.L482I; 16:67626641-67626641	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2077G>A; p.D693N; 16:67637765-67637765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2055A>G; p.I685M; 16:67637743-67637743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1650C>T; p.F550F; 16:67628501-67628501	skin	malignant_melanoma	Substitution - coding silent
c.1231A>G; p.I411V; 16:67621465-67621465	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1103G>A; p.R368H; 16:67620713-67620713	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1231A>G; p.I411V; 16:67621465-67621465	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1094A>C; p.K365T; 16:67620704-67620704	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1094A>C; p.K365T; 16:67620704-67620704	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1094A>C; p.K365T; 16:67620704-67620704	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1873G>T; p.E625*; 16:67636725-67636725	breast	carcinoma	Substitution - Nonsense
c.1094A>C; p.K365T; 16:67620704-67620704	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1861G>A; p.D621N; 16:67636713-67636713	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1555G>A; p.G519R; 16:67628406-67628406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.540_541insG; p.E182fs*9; 16:67611372-67611373	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1168_1169insGT; p.D390fs*6; 16:67620778-67620779	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1118A>T; p.H373L; 16:67620728-67620728	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1584C>A; p.C528*; 16:67628435-67628435	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.604delA; p.T204fs*18; 16:67611436-67611436	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1659G>T; p.A553A; 16:67628510-67628510	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.981C>T; p.C327C; 16:67616773-67616773	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.61_64delGAGA; p.K23fs*38; 16:67610893-67610896	breast	carcinoma	Deletion - Frameshift
c.1593C>A; p.T531T; 16:67628444-67628444	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1811C>G; p.S604C; 16:67629507-67629507	central_nervous_system; brain	glioma	Substitution - Missense
c.2135C>T; p.P712L; 16:67637823-67637823	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1129C>T; p.R377C; 16:67620739-67620739	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.683T>C; p.F228S; 16:67611515-67611515	breast	carcinoma	Substitution - Missense
c.44C>G; p.T15S; 16:67610876-67610876	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1129C>T; p.R377C; 16:67620739-67620739	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1129C>T; p.R377C; 16:67620739-67620739	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1341C>T; p.A447A; 16:67621575-67621575	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2155G>A; p.E719K; 16:67637843-67637843	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1112G>A; p.R371H; 16:67620722-67620722	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1112G>A; p.R371H; 16:67620722-67620722	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1102C>T; p.R368C; 16:67620712-67620712	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1027T>C; p.Y343H; 16:67616819-67616819	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.604_605insA; p.T204fs*26; 16:67611436-67611437	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.1891G>T; p.E631*; 16:67636743-67636743	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.872A>G; p.E291G; 16:67612041-67612041	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.872A>G; p.E291G; 16:67612041-67612041	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.872A>G; p.E291G; 16:67612041-67612041	pancreas	carcinoma	Substitution - Missense
c.872A>G; p.E291G; 16:67612041-67612041	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.1913C>T; p.P638L; 16:67636765-67636765	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.872A>G; p.E291G; 16:67612041-67612041	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1950G>A; p.K650K; 16:67636802-67636802	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1024C>T; p.R342C; 16:67616816-67616816	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2164C>A; p.L722I; 16:67637852-67637852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1015C>T; p.R339W; 16:67616807-67616807	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.367A>G; p.T123A; 16:67611199-67611199	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.556C>T; p.Q186*; 16:67611388-67611388	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.850C>T; p.H284Y; 16:67612019-67612019	breast	carcinoma	Substitution - Missense
c.941_942delAC; p.T317fs*91; 16:67612110-67612111	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.488G>A; p.G163E; 16:67611320-67611320	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.86delG; p.E30fs*32; 16:67610918-67610918	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.781+1G>A; p.?; 16:67611614-67611614	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1927C>T; p.P643S; 16:67636779-67636779	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.1390G>A; p.E464K; 16:67626587-67626587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.102A>G; p.E34E; 16:67610934-67610934	breast	carcinoma	Substitution - coding silent
c.1807C>T; p.R603C; 16:67629503-67629503	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1807C>T; p.R603C; 16:67629503-67629503	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1807C>T; p.R603C; 16:67629503-67629503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.52delA; p.G19fs*43; 16:67610884-67610884	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1810delT; p.S604fs*27; 16:67629506-67629506	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1895delT; p.I632fs*10; 16:67636747-67636747	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1556G>A; p.G519E; 16:67628407-67628407	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1549C>T; p.H517Y; 16:67628400-67628400	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.556_557delCA; p.Q186fs*4; 16:67611388-67611389	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1425G>T; p.V475V; 16:67626622-67626622	breast	carcinoma	Substitution - coding silent
c.535G>T; p.E179*; 16:67611367-67611367	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1A>G; p.M1V; 16:67610833-67610833	breast	carcinoma	Substitution - Missense
c.895_896delTG; p.C299fs*15; 16:67612064-67612065	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1964C>T; p.P655L; 16:67636816-67636816	skin	malignant_melanoma	Substitution - Missense
c.5A>G; p.E2G; 16:67610837-67610837	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1369C>T; p.R457*; 16:67626566-67626566	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1369C>T; p.R457*; 16:67626566-67626566	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.1369C>T; p.R457*; 16:67626566-67626566	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.1369C>T; p.R457*; 16:67626566-67626566	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1886C>T; p.A629V; 16:67636738-67636738	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1369C>T; p.R457*; 16:67626566-67626566	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1369C>T; p.R457*; 16:67626566-67626566	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.713C>A; p.S238*; 16:67611545-67611545	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2166C>G; p.L722L; 16:67637854-67637854	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1464A>G; p.S488S; 16:67626661-67626661	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1070_1071insT; p.Y358fs*51; 16:67616862-67616863	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.773A>G; p.K258R; 16:67611605-67611605	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.772A>G; p.K258E; 16:67611604-67611604	breast	carcinoma	Substitution - Missense
c.135G>A; p.T45T; 16:67610967-67610967	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.847C>T; p.R283C; 16:67612016-67612016	breast	carcinoma	Substitution - Missense
c.1554C>T; p.T518T; 16:67628405-67628405	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2064_2065insA; p.E691fs*5; 16:67637752-67637753	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.1123G>A; p.G375R; 16:67620733-67620733	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.189G>T; p.M63I; 16:67611021-67611021	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1741G>C; p.D581H; 16:67629437-67629437	thyroid	carcinoma	Substitution - Missense
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1016G>A; p.R339Q; 16:67616808-67616808	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.148G>C; p.V50L; 16:67610980-67610980	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1016G>A; p.R339Q; 16:67616808-67616808	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.610_611insA; p.T204fs*26; 16:67611442-67611443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.136G>A; p.D46N; 16:67610968-67610968	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1056G>T; p.K352N; 16:67616848-67616848	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1818A>G; p.K606K; 16:67629514-67629514	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1516C>T; p.Q506*; 16:67626713-67626713	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.638G>A; p.R213H; 16:67611470-67611470	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.871G>T; p.E291*; 16:67612040-67612040	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.19G>A; p.E7K; 16:67610851-67610851	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.850C>A; p.H284N; 16:67612019-67612019	breast	carcinoma	Substitution - Missense
c.19G>A; p.E7K; 16:67610851-67610851	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1998G>T; p.Q666H; 16:67636850-67636850	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.86G>A; p.R29Q; 16:67610918-67610918	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1294G>T; p.E432*; 16:67621528-67621528	breast	carcinoma	Substitution - Nonsense
c.1543C>T; p.R515C; 16:67628394-67628394	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1890A>G; p.V630V; 16:67636742-67636742	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - coding silent
c.1507G>T; p.A503S; 16:67626704-67626704	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1598G>T; p.R533L; 16:67628449-67628449	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1130G>A; p.R377H; 16:67620740-67620740	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1130G>A; p.R377H; 16:67620740-67620740	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.433G>T; p.E145*; 16:67611265-67611265	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1130G>A; p.R377H; 16:67620740-67620740	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1130G>A; p.R377H; 16:67620740-67620740	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1779G>C; p.K593N; 16:67629475-67629475	thyroid	carcinoma	Substitution - Missense
c.239G>T; p.G80V; 16:67611071-67611071	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1034A>G; p.H345R; 16:67616826-67616826	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1837+1G>C; p.?; 16:67629534-67629534	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1408C>T; p.R470C; 16:67626605-67626605	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1408C>T; p.R470C; 16:67626605-67626605	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1396G>A; p.G466S; 16:67626593-67626593	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1518+1G>T; p.?; 16:67626716-67626716	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1253A>G; p.Q418R; 16:67621487-67621487	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.1253A>G; p.Q418R; 16:67621487-67621487	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.1658C>T; p.A553V; 16:67628509-67628509	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.858A>C; p.K286N; 16:67612027-67612027	oesophagus	carcinoma	Substitution - Missense
c.134C>T; p.T45M; 16:67610966-67610966	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2166C>T; p.L722L; 16:67637854-67637854	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1364A>G; p.H455R; 16:67626561-67626561	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1654C>T; p.P552S; 16:67628505-67628505	skin	malignant_melanoma	Substitution - Missense
c.1544G>A; p.R515H; 16:67628395-67628395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1654C>T; p.P552S; 16:67628505-67628505	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.363T>A; p.P121P; 16:67611195-67611195	breast	carcinoma	Substitution - coding silent
c.2081C>T; p.A694V; 16:67637769-67637769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1213A>G; p.K405E; 16:67621447-67621447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1697G>A; p.R566H; 16:67628548-67628548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1454A>G; p.H485R; 16:67626651-67626651	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1768G>T; p.E590*; 16:67629464-67629464	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1535_1560del26; p.M512fs*10; 16:67628386-67628411	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.1979A>G; p.N660S; 16:67636831-67636831	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.610delA; p.T204fs*18; 16:67611442-67611442	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.3G>T; p.M1I; 16:67610835-67610835	pancreas	carcinoma	Substitution - Missense
c.610delA; p.T204fs*18; 16:67611442-67611442	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.82_95del14; p.R28fs*17; 16:67610914-67610927	breast	carcinoma	Deletion - Frameshift
c.610delA; p.T204fs*18; 16:67611442-67611442	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.610delA; p.T204fs*18; 16:67611442-67611442	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.3G>T; p.M1I; 16:67610835-67610835	pancreas	carcinoma	Substitution - Missense
c.3G>T; p.M1I; 16:67610835-67610835	pancreas	carcinoma	Substitution - Missense
c.610delA; p.T204fs*18; 16:67611442-67611442	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.610delA; p.T204fs*18; 16:67611442-67611442	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.610delA; p.T204fs*18; 16:67611442-67611442	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.3G>T; p.M1I; 16:67610835-67610835	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.610delA; p.T204fs*18; 16:67611442-67611442	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1051T>C; p.F351L; 16:67616843-67616843	urinary_tract; bladder	carcinoma	Substitution - Missense
c.778A>T; p.K260*; 16:67611610-67611610	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1437delC; p.Y480fs*31; 16:67626634-67626634	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.592C>T; p.Q198*; 16:67611424-67611424	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1061_1062CC>TT; p.S354F; 16:67616853-67616854	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1826C>T; p.S609F; 16:67629522-67629522	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.278C>T; p.T93I; 16:67611110-67611110	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.853_854AT>G; p.M285fs*25; 16:67612022-67612023	endometrium	carcinoma; endometrioid_carcinoma	Complex - frameshift
c.851A>C; p.H284P; 16:67612020-67612020	breast	carcinoma	Substitution - Missense
c.1702-1G>C; p.?; 16:67629397-67629397	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1432G>A; p.E478K; 16:67626629-67626629	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1655C>A; p.P552H; 16:67628506-67628506	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1702-1G>C; p.?; 16:67629397-67629397	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1053C>T; p.F351F; 16:67616845-67616845	skin	malignant_melanoma	Substitution - coding silent
c.822G>C; p.T274T; 16:67611991-67611991	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.41A>G; p.E14G; 16:67610873-67610873	thyroid	other; neoplasm	Substitution - Missense
c.1844_1845insT; p.E616fs*1; 16:67636696-67636697	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1704T>A; p.N568K; 16:67629400-67629400	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1546A>G; p.T516A; 16:67628397-67628397	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1746C>T; p.G582G; 16:67629442-67629442	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.84C>T; p.R28R; 16:67610916-67610916	skin	malignant_melanoma	Substitution - coding silent
c.1518+1G>A; p.?; 16:67626716-67626716	stomach	carcinoma; adenocarcinoma	Unknown
c.1134G>T; p.P378P; 16:67620744-67620744	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.334G>T; p.E112*; 16:67611166-67611166	endometrium	carcinoma; serous_carcinoma	Substitution - Nonsense
c.334G>T; p.E112*; 16:67611166-67611166	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1689A>T; p.T563T; 16:67628540-67628540	breast	carcinoma	Substitution - coding silent
c.603_604insA; p.T204fs*26; 16:67611435-67611436	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.603_604insA; p.T204fs*26; 16:67611435-67611436	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1480C>T; p.R494C; 16:67626677-67626677	large_intestine; colon	NS	Substitution - Missense
c.603_604insA; p.T204fs*26; 16:67611435-67611436	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.603_604insA; p.T204fs*26; 16:67611435-67611436	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1480C>T; p.R494C; 16:67626677-67626677	pancreas	carcinoma	Substitution - Missense
c.603_604insA; p.T204fs*26; 16:67611435-67611436	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1097T>G; p.L366*; 16:67620707-67620707	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1097T>G; p.L366*; 16:67620707-67620707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1126G>A; p.E376K; 16:67620736-67620736	urinary_tract; bladder	carcinoma	Substitution - Missense
c.422_426AAGTG>T; p.E141fs*12; 16:67611254-67611258	endometrium	carcinoma; endometrioid_carcinoma	Complex - frameshift
c.538C>T; p.Q180*; 16:67611370-67611370	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.538C>T; p.Q180*; 16:67611370-67611370	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1703_1704insT; p.T569fs*7; 16:67629399-67629400	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Insertion - Frameshift
c.538C>T; p.Q180*; 16:67611370-67611370	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1248T>G; p.F416L; 16:67621482-67621482	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1041C>A; p.H347Q; 16:67616833-67616833	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.1630C>T; p.R544C; 16:67628481-67628481	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.61G>T; p.E21*; 16:67610893-67610893	breast	carcinoma	Substitution - Nonsense
c.629G>A; p.S210N; 16:67611461-67611461	ovary	other; neoplasm	Substitution - Missense
c.935A>G; p.H312R; 16:67612104-67612104	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1602G>A; p.Q534Q; 16:67628453-67628453	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.612_613delAA; p.K205fs*24; 16:67611444-67611445	breast	carcinoma	Deletion - Frameshift
c.873G>C; p.E291D; 16:67612042-67612042	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.573G>A; p.W191*; 16:67611405-67611405	breast	carcinoma	Substitution - Nonsense
c.1809C>T; p.R603R; 16:67629505-67629505	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2064delA; p.E691fs*30; 16:67637752-67637752	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2064delA; p.E691fs*30; 16:67637752-67637752	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.619A>C; p.T207P; 16:67611451-67611451	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1702-3T>G; p.?; 16:67629395-67629395	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.677A>G; p.Y226C; 16:67611509-67611509	breast	carcinoma	Substitution - Missense
c.1999+1G>A; p.?; 16:67636852-67636852	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.149delT; p.V50fs*12; 16:67610981-67610981	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1660G>T; p.A554S; 16:67628511-67628511	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1837+4A>G; p.?; 16:67629537-67629537	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.1455T>C; p.H485H; 16:67626652-67626652	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.574_575insA; p.D194fs*36; 16:67611406-67611407	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1689A>G; p.T563T; 16:67628540-67628540	lung	carcinoma; squamous_cell_carcinoma	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]