Entrez Gene

Basic Information
Gene ID	6416
Name	MAP2K4
Synonymous	mitogen-activated protein kinase kinase 4;MAP2K4;mitogen-activated protein kinase kinase 4
Definition	JNK-activated kinase 1\|JNK-activating kinase 1\|MAP kinase kinase 4\|MAPK/ERK kinase 4\|MAPKK 4\|MEK 4\|SAPK/ERK kinase 1\|c-Jun N-terminal kinase kinase 1\|dual specificity mitogen-activated protein kinase kinase 4\|stress-activated protein kinase kinase 1
Position	17p12
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.812C>T; p.A271V; 17:12113359-12113359	pancreas	carcinoma	Substitution - Missense
c.793_799delGGCTGTA; p.C266fs*8; 17:12113340-12113346	breast	carcinoma	Deletion - Frameshift
c.425A>T; p.Q142L; 17:12095606-12095606	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.425A>T; p.Q142L; 17:12095606-12095606	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.873G>T; p.W291C; 17:12125353-12125353	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.374G>T; p.G125V; 17:12081511-12081511	stomach	carcinoma	Substitution - Missense
c.997G>T; p.E333*; 17:12129244-12129244	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.820A>G; p.R274G; 17:12125300-12125300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.820A>G; p.R274G; 17:12125300-12125300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.551C>T; p.S184L; 17:12107827-12107827	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.551C>T; p.S184L; 17:12107827-12107827	breast	carcinoma	Substitution - Missense
c.551C>T; p.S184L; 17:12107827-12107827	breast	carcinoma	Substitution - Missense
c.1041-1G>A; p.?; 17:12139838-12139838	oesophagus	carcinoma; adenocarcinoma	Unknown
c.774T>C; p.I258I; 17:12113321-12113321	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.551C>T; p.S184L; 17:12107827-12107827	breast	carcinoma	Substitution - Missense
c.551C>T; p.S184L; 17:12107827-12107827	breast	carcinoma	Substitution - Missense
c.551C>T; p.S184L; 17:12107827-12107827	breast	carcinoma; luminal_NS_carcinoma	Substitution - Missense
c.1006_1007insTC; p.S339fs*25; 17:12129253-12129254	breast	carcinoma	Insertion - Frameshift
c.269C>T; p.S90F; 17:12081406-12081406	skin	malignant_melanoma	Substitution - Missense
c.296C>T; p.A99V; 17:12081433-12081433	large_intestine; colon	NS	Substitution - Missense
c.219-2_219-1delAG; p.?; 17:12081354-12081355	breast	carcinoma	Unknown
c.219-2_219-1delAG; p.?; 17:12081354-12081355	breast	carcinoma	Unknown
c.219-2_219-1delAG; p.?; 17:12081354-12081355	breast	carcinoma	Unknown
c.697T>G; p.S233A; 17:12113244-12113244	breast	carcinoma	Substitution - Missense
c.883A>T; p.I295F; 17:12125363-12125363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1040+5G>A; p.?; 17:12129292-12129292	pancreas	carcinoma	Unknown
c.793G>T; p.G265C; 17:12113340-12113340	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.495T>A; p.Y165*; 17:12095676-12095676	breast	carcinoma	Substitution - Nonsense
c.515_516insT; p.D173fs*1; 17:12107791-12107792	breast	carcinoma	Insertion - Frameshift
c.644C>G; p.A215G; 17:12110385-12110385	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.656T>C; p.L219S; 17:12110397-12110397	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.251C>G; p.S84*; 17:12081388-12081388	breast	carcinoma	Substitution - Nonsense
c.960C>T; p.V320V; 17:12129207-12129207	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.401G>A; p.R134Q; 17:12095582-12095582	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.277C>T; p.Q93*; 17:12081414-12081414	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1038_1039insAACTTG; p.L346_C347insNL; 17:12129285-12129286	breast	carcinoma	Insertion - In frame
c.277C>T; p.Q93*; 17:12081414-12081414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.961G>A; p.V321M; 17:12129208-12129208	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.701A>T; p.N234I; 17:12113248-12113248	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.701A>T; p.N234I; 17:12113248-12113248	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.966A>C; p.K322N; 17:12129213-12129213	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.237C>T; p.H79H; 17:12081374-12081374	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1040G>A; p.C347Y; 17:12129287-12129287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.421G>T; p.E141*; 17:12095602-12095602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1069A>C; p.K357Q; 17:12139867-12139867	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1167A>T; p.P389P; 17:12141227-12141227	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.205C>T; p.Q69*; 17:12054978-12054978	breast	carcinoma	Substitution - Nonsense
c.330A>G; p.R110R; 17:12081467-12081467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1119T>A; p.R373R; 17:12141179-12141179	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.330A>G; p.R110R; 17:12081467-12081467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.330A>G; p.R110R; 17:12081467-12081467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.668_669insT; p.L223fs*22; 17:12110409-12110410	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.815C>T; p.P272L; 17:12125295-12125295	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.860G>A; p.R287H; 17:12125340-12125340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.860G>A; p.R287H; 17:12125340-12125340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.460C>T; p.R154W; 17:12095641-12095641	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.460C>T; p.R154W; 17:12095641-12095641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.746G>A; p.G249D; 17:12113293-12113293	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.460C>T; p.R154W; 17:12095641-12095641	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.460C>T; p.R154W; 17:12095641-12095641	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.444delT; p.L149fs*3; 17:12095625-12095625	breast	carcinoma	Deletion - Frameshift
c.841C>T; p.R281*; 17:12125321-12125321	pancreas	carcinoma	Substitution - Nonsense
c.841C>T; p.R281*; 17:12125321-12125321	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.841C>T; p.R281*; 17:12125321-12125321	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.841C>T; p.R281*; 17:12125321-12125321	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.634-1G>A; p.?; 17:12110374-12110374	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.287A>T; p.D96V; 17:12081424-12081424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.619A>T; p.K207*; 17:12107895-12107895	breast	carcinoma	Substitution - Nonsense
c.794G>A; p.G265D; 17:12113341-12113341	pancreas	carcinoma	Substitution - Missense
c.978G>A; p.P326P; 17:12129225-12129225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.978G>A; p.P326P; 17:12129225-12129225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.978G>A; p.P326P; 17:12129225-12129225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.910C>T; p.R304*; 17:12129157-12129157	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.910C>T; p.R304*; 17:12129157-12129157	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.927G>C; p.K309N; 17:12129174-12129174	testis	germ_cell_tumour	Substitution - Missense
c.219-2A>G; p.?; 17:12081354-12081354	stomach	carcinoma; adenocarcinoma	Unknown
c.742T>G; p.F248V; 17:12113289-12113289	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.533T>G; p.M178R; 17:12107809-12107809	pancreas	carcinoma	Substitution - Missense
c.589G>T; p.D197Y; 17:12107865-12107865	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.976C>T; p.P326S; 17:12129223-12129223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.373G>A; p.G125R; 17:12081510-12081510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.373G>A; p.G125R; 17:12081510-12081510	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.842G>A; p.R281Q; 17:12125322-12125322	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.746G>T; p.G249V; 17:12113293-12113293	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.929G>A; p.W310*; 17:12129176-12129176	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.929G>A; p.W310*; 17:12129176-12129176	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.633+1_633+2insT; p.?; 17:12107910-12107911	breast	carcinoma	Unknown
c.978G>C; p.P326P; 17:12129225-12129225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1041-2A>G; p.?; 17:12139837-12139837	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.836C>T; p.A279V; 17:12125316-12125316	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.814C>T; p.P272S; 17:12125294-12125294	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.882delG; p.I295fs*23; 17:12125362-12125362	lung	carcinoma; large_cell_carcinoma	Deletion - Frameshift
c.882delG; p.I295fs*23; 17:12125362-12125362	lung	carcinoma; large_cell_carcinoma	Deletion - Frameshift
c.155C>T; p.P52L; 17:12054928-12054928	skin	malignant_melanoma	Substitution - Missense
c.817G>A; p.E273K; 17:12125297-12125297	breast	carcinoma	Substitution - Missense
c.868G>T; p.V290F; 17:12125348-12125348	breast	carcinoma	Substitution - Missense
c.218+1_218+2insT; p.?; 17:12054992-12054993	breast	carcinoma	Unknown
c.840A>G; p.S280S; 17:12125320-12125320	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1154T>C; p.L385P; 17:12141214-12141214	breast	carcinoma	Substitution - Missense
c.817G>T; p.E273*; 17:12125297-12125297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.253G>A; p.G85R; 17:12081390-12081390	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.949C>T; p.L317L; 17:12129196-12129196	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.473_474insC; p.Y160fs*14; 17:12095654-12095655	breast	carcinoma	Insertion - Frameshift
c.400C>T; p.R134W; 17:12095581-12095581	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.R134W; 17:12095581-12095581	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.400C>T; p.R134W; 17:12095581-12095581	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.R134W; 17:12095581-12095581	breast	carcinoma	Substitution - Missense
c.400C>T; p.R134W; 17:12095581-12095581	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.R134W; 17:12095581-12095581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.686-1G>A; p.?; 17:12113232-12113232	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.928T>C; p.W310R; 17:12129175-12129175	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.R134W; 17:12095581-12095581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.R134W; 17:12095581-12095581	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.R134W; 17:12095581-12095581	pancreas	carcinoma	Substitution - Missense
c.557A>G; p.D186G; 17:12107833-12107833	breast	carcinoma	Substitution - Missense
c.895G>T; p.E299*; 17:12129142-12129142	breast	carcinoma	Substitution - Nonsense
c.745G>C; p.G249R; 17:12113292-12113292	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1_1200del1200; p.0?; 17:12020887-12141260	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Whole gene deletion
c.1_1200del1200; p.0?; 17:12020887-12141260	breast	carcinoma; luminal_NS_carcinoma	Whole gene deletion
c.1_1200del1200; p.0?; 17:12020887-12141260	breast	carcinoma	Whole gene deletion
c.1_1200del1200; p.0?; 17:12020887-12141260	pancreas	carcinoma; ductal_carcinoma	Whole gene deletion
c.335C>T; p.A112V; 17:12081472-12081472	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1_1200del1200; p.0?; 17:12020887-12141260	ovary	carcinoma; serous_carcinoma	Whole gene deletion
c.1_1200del1200; p.0?; 17:12020887-12141260	ovary	carcinoma; serous_carcinoma	Whole gene deletion
c.1_1200del1200; p.0?; 17:12020887-12141260	ovary	carcinoma; serous_carcinoma	Whole gene deletion
c.355A>G; p.M119V; 17:12081492-12081492	skin	malignant_melanoma	Substitution - Missense
c.783_784delAA; p.D263fs*4; 17:12113330-12113331	breast	carcinoma	Deletion - Frameshift
c.783_784delAA; p.D263fs*4; 17:12113330-12113331	breast	carcinoma	Deletion - Frameshift
c.835G>T; p.A279S; 17:12125315-12125315	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.839C>A; p.S280*; 17:12125319-12125319	breast	carcinoma	Substitution - Nonsense
c.771T>C; p.S257S; 17:12113318-12113318	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.839C>A; p.S280*; 17:12125319-12125319	breast	carcinoma; luminal_NS_carcinoma	Substitution - Nonsense
c.839C>A; p.S280*; 17:12125319-12125319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1091A>C; p.H364P; 17:12141151-12141151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.685+1G>A; p.?; 17:12110427-12110427	pancreas	carcinoma	Unknown
c.685+1G>A; p.?; 17:12110427-12110427	pancreas	carcinoma	Unknown
c.685+1G>A; p.?; 17:12110427-12110427	pancreas	carcinoma	Unknown
c.685+1G>A; p.?; 17:12110427-12110427	pancreas	carcinoma	Unknown
c.685+1G>A; p.?; 17:12110427-12110427	pancreas	carcinoma	Unknown
c.917C>G; p.P306R; 17:12129164-12129164	breast	carcinoma	Substitution - Missense
c.441G>T; p.M147I; 17:12095622-12095622	kidney	other; neoplasm	Substitution - Missense
c.480C>T; p.Y160Y; 17:12095661-12095661	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.836C>A; p.A279E; 17:12125316-12125316	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1043T>G; p.L348R; 17:12139841-12139841	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.677T>G; p.I226S; 17:12110418-12110418	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.602C>T; p.P201L; 17:12107878-12107878	skin	malignant_melanoma	Substitution - Missense
c.1166C>T; p.P389L; 17:12141226-12141226	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.368C>A; p.P123Q; 17:12081505-12081505	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.829C>T; p.P277S; 17:12125309-12125309	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239G>A; p.S80N; 17:12081376-12081376	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1086+1G>A; p.?; 17:12139885-12139885	breast	carcinoma	Unknown
c.1132G>A; p.A378T; 17:12141192-12141192	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.599T>C; p.I200T; 17:12107875-12107875	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.814-1G>A; p.?; 17:12125293-12125293	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.962T>A; p.V321E; 17:12129209-12129209	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.421G>A; p.E141K; 17:12095602-12095602	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.607G>T; p.E203*; 17:12107883-12107883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.945T>C; p.D315D; 17:12129192-12129192	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.335_336insT; p.Y113fs*19; 17:12081472-12081473	breast	carcinoma	Insertion - Frameshift
c.979C>T; p.Q327*; 17:12129226-12129226	pancreas	carcinoma; acinar_carcinoma	Substitution - Nonsense
c.754G>A; p.G252R; 17:12113301-12113301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.683G>A; p.R228K; 17:12110424-12110424	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.739G>A; p.D247N; 17:12113286-12113286	liver	carcinoma	Substitution - Missense
c.739G>A; p.D247N; 17:12113286-12113286	pancreas	carcinoma	Substitution - Missense
c.739G>A; p.D247N; 17:12113286-12113286	liver	carcinoma	Substitution - Missense
c.871T>C; p.W291R; 17:12125351-12125351	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.663A>G; p.E221E; 17:12110404-12110404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.814-1G>T; p.?; 17:12125293-12125293	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.1066C>T; p.P356S; 17:12139864-12139864	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.661G>T; p.E221*; 17:12110402-12110402	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.661G>T; p.E221*; 17:12110402-12110402	pancreas	carcinoma; adenocarcinoma	Substitution - Nonsense
c.661G>T; p.E221*; 17:12110402-12110402	pancreas	carcinoma	Substitution - Nonsense
c.929G>T; p.W310L; 17:12129176-12129176	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.770C>T; p.S257F; 17:12113317-12113317	skin	malignant_melanoma	Substitution - Missense
c.544T>C; p.S182P; 17:12107820-12107820	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.770C>T; p.S257F; 17:12113317-12113317	breast	carcinoma	Substitution - Missense
c.310G>T; p.D104Y; 17:12081447-12081447	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.759G>A; p.Q253Q; 17:12113306-12113306	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.811G>A; p.A271T; 17:12113358-12113358	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.811G>A; p.A271T; 17:12113358-12113358	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.811G>A; p.A271T; 17:12113358-12113358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.811G>A; p.A271T; 17:12113358-12113358	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.714C>A; p.D238E; 17:12113261-12113261	skin	malignant_melanoma	Substitution - Missense
c.908G>T; p.G303V; 17:12129155-12129155	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.386_393+9del17; p.?; 17:12081523-12081539	breast	carcinoma	Unknown
c.908G>T; p.G303V; 17:12129155-12129155	pancreas	carcinoma	Substitution - Missense
c.451G>T; p.V151L; 17:12095632-12095632	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.451G>T; p.V151L; 17:12095632-12095632	pancreas	carcinoma	Substitution - Missense
c.451G>T; p.V151L; 17:12095632-12095632	pancreas	carcinoma	Substitution - Missense
c.1054G>T; p.E352*; 17:12139852-12139852	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.436C>T; p.L146F; 17:12095617-12095617	skin	malignant_melanoma	Substitution - Missense
c.401G>T; p.R134L; 17:12095582-12095582	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1087-1G>C; p.?; 17:12141146-12141146	breast	carcinoma	Unknown
c.917C>A; p.P306H; 17:12129164-12129164	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.891+1G>C; p.?; 17:12125372-12125372	lung	carcinoma; adenocarcinoma	Unknown
c.329G>A; p.R110Q; 17:12081466-12081466	pancreas	carcinoma	Substitution - Missense
c.973C>A; p.P325T; 17:12129220-12129220	urinary_tract; bladder	carcinoma	Substitution - Missense
c.946C>T; p.Q316*; 17:12129193-12129193	breast	carcinoma	Substitution - Nonsense
c.1092T>C; p.H364H; 17:12141152-12141152	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.569_591del23; p.K190fs*47; 17:12107845-12107867	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.962T>C; p.V321A; 17:12129209-12129209	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.952_953delAC; p.Q319fs*11; 17:12129199-12129200	breast	carcinoma	Deletion - Frameshift
c.821G>T; p.R274I; 17:12125301-12125301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.752G>T; p.S251I; 17:12113299-12113299	breast	carcinoma	Substitution - Missense
c.752G>T; p.S251I; 17:12113299-12113299	breast	carcinoma	Substitution - Missense
c.219-1G>C; p.?; 17:12081355-12081355	breast	carcinoma	Unknown
c.219-1G>C; p.?; 17:12081355-12081355	breast	carcinoma; luminal_NS_carcinoma	Unknown
c.219-1G>C; p.?; 17:12081355-12081355	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1046C>T; p.T349M; 17:12139844-12139844	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.835G>A; p.A279T; 17:12125315-12125315	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1023C>G; p.I341M; 17:12129270-12129270	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.835G>A; p.A279T; 17:12125315-12125315	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.835G>A; p.A279T; 17:12125315-12125315	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.891+2T>C; p.?; 17:12125373-12125373	breast	carcinoma	Unknown
c.891+2T>C; p.?; 17:12125373-12125373	stomach	carcinoma; adenocarcinoma	Unknown
c.752G>A; p.S251N; 17:12113299-12113299	skin	malignant_melanoma	Substitution - Missense
c.752G>A; p.S251N; 17:12113299-12113299	skin	malignant_melanoma	Substitution - Missense
c.752G>A; p.S251N; 17:12113299-12113299	salivary_gland	carcinoma; myoepithelial_carcinoma	Substitution - Missense
c.513+2T>C; p.?; 17:12095696-12095696	breast	carcinoma; lobular_carcinoma	Unknown
c.1047G>A; p.T349T; 17:12139845-12139845	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.977C>T; p.P326L; 17:12129224-12129224	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.977C>T; p.P326L; 17:12129224-12129224	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.977C>T; p.P326L; 17:12129224-12129224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1200+92G>A; p.?; 17:12141329-12141329	large_intestine	carcinoma; adenocarcinoma	Unknown
c.409G>A; p.V137M; 17:12095590-12095590	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.442G>T; p.D148Y; 17:12095623-12095623	kidney	other; neoplasm	Substitution - Missense
c.328C>T; p.R110*; 17:12081465-12081465	stomach	carcinoma	Substitution - Nonsense
c.1153C>G; p.L385V; 17:12141213-12141213	breast	carcinoma	Substitution - Missense
c.328C>T; p.R110*; 17:12081465-12081465	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.328C>T; p.R110*; 17:12081465-12081465	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.685+2T>C; p.?; 17:12110428-12110428	large_intestine; colon	carcinoma; adenocarcinoma	Unknown

COSMIC somatic mutation [Top]