Entrez Gene

Basic Information
Gene ID	2735
Name	GLI1
Synonymous	GLI family zinc finger 1;GLI1;GLI family zinc finger 1
Definition	GLI-Kruppel family member GLI1\|glioma-associated oncogene 1\|glioma-associated oncogene homolog 1 (zinc finger protein)\|oncogene GLI\|zinc finger protein GLI1
Position	12q13.2-q13.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.940C>G; p.R314G; 12:57467360-57467360	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2599C>A; p.Q867K; 12:57471339-57471339	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.120C>A; p.F40L; 12:57464018-57464018	breast	carcinoma	Substitution - Missense
c.505C>G; p.Q169E; 12:57465226-57465226	breast	carcinoma	Substitution - Missense
c.628C>G; p.P210A; 12:57465791-57465791	breast	carcinoma; ductolobular_carcinoma	Substitution - Missense
c.2449G>C; p.E817Q; 12:57471189-57471189	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3187C>A; p.P1063T; 12:57471927-57471927	breast	carcinoma	Substitution - Missense
c.1541C>T; p.T514I; 12:57469663-57469663	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2175A>C; p.P725P; 12:57470915-57470915	breast	carcinoma	Substitution - coding silent
c.3118C>T; p.L1040F; 12:57471858-57471858	breast	carcinoma	Substitution - Missense
c.1802C>A; p.T601N; 12:57470542-57470542	breast	carcinoma	Substitution - Missense
c.1432C>T; p.L478F; 12:57469554-57469554	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1543C>T; p.R515W; 12:57469665-57469665	breast	carcinoma	Substitution - Missense
c.967C>T; p.R323W; 12:57467387-57467387	breast	carcinoma	Substitution - Missense
c.187A>C; p.T63P; 12:57464085-57464085	breast	carcinoma	Substitution - Missense
c.2713C>G; p.Q905E; 12:57471453-57471453	breast	carcinoma	Substitution - Missense
c.1603C>T; p.P535S; 12:57470343-57470343	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.630C>T; p.P210P; 12:57465793-57465793	breast	carcinoma	Substitution - coding silent
c.1666_1667delAG; p.S556fs*85; 12:57470406-57470407	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1943G>A; p.R648H; 12:57470683-57470683	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1115G>A; p.R372H; 12:57468031-57468031	central_nervous_system; brain	glioma	Substitution - Missense
c.3152C>T; p.A1051V; 12:57471892-57471892	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1358C>T; p.S453F; 12:57469480-57469480	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1358C>T; p.S453F; 12:57469480-57469480	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1291G>C; p.V431L; 12:57468207-57468207	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1595G>A; p.R532H; 12:57470335-57470335	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1618G>A; p.E540K; 12:57470358-57470358	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1060C>T; p.R354W; 12:57467480-57467480	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.335C>T; p.S112L; 12:57464814-57464814	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1910G>A; p.R637Q; 12:57470650-57470650	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2283T>G; p.Y761*; 12:57471023-57471023	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.679C>T; p.R227C; 12:57465842-57465842	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.438G>A; p.S146S; 12:57465159-57465159	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1673G>A; p.R558H; 12:57470413-57470413	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1318C>A; p.P440T; 12:57469440-57469440	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.194G>A; p.G65D; 12:57464673-57464673	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2904A>G; p.S968S; 12:57471644-57471644	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1134G>A; p.S378S; 12:57468050-57468050	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3008A>C; p.K1003T; 12:57471748-57471748	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2791C>A; p.L931M; 12:57471531-57471531	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.704C>T; p.T235I; 12:57465867-57465867	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1139G>A; p.R380Q; 12:57468055-57468055	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2857G>T; p.G953*; 12:57471597-57471597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.58C>T; p.R20W; 12:57463749-57463749	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2082G>T; p.E694D; 12:57470822-57470822	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.338G>A; p.R113Q; 12:57464817-57464817	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2798G>A; p.G933D; 12:57471538-57471538	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.530G>A; p.C177Y; 12:57465251-57465251	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.262C>A; p.L88M; 12:57464741-57464741	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.262C>A; p.L88M; 12:57464741-57464741	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.262C>A; p.L88M; 12:57464741-57464741	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.576G>A; p.E192E; 12:57465648-57465648	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2786A>C; p.K929T; 12:57471526-57471526	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.2456G>C; p.G819A; 12:57471196-57471196	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2456G>C; p.G819A; 12:57471196-57471196	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2622T>C; p.P874P; 12:57471362-57471362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.912+2T>G; p.?; 12:57466391-57466391	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Unknown
c.1114C>T; p.R372C; 12:57468030-57468030	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.3298G>C; p.E1100Q; 12:57472038-57472038	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.941G>T; p.R314L; 12:57467361-57467361	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1054C>A; p.Q352K; 12:57467474-57467474	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1243A>C; p.K415Q; 12:57468159-57468159	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3087C>T; p.P1029P; 12:57471827-57471827	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2198G>C; p.G733A; 12:57470938-57470938	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1831C>T; p.R611W; 12:57470571-57470571	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2514T>G; p.S838R; 12:57471254-57471254	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2045_2046insAG; p.S683fs*37; 12:57470785-57470786	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.1405G>A; p.G469S; 12:57469527-57469527	kidney	other; neoplasm	Substitution - Missense
c.446T>C; p.F149S; 12:57465167-57465167	kidney	other; neoplasm	Substitution - Missense
c.940C>A; p.R314S; 12:57467360-57467360	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3085C>T; p.P1029S; 12:57471825-57471825	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2274C>T; p.P758P; 12:57471014-57471014	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.664_665delGA; p.E224fs*4; 12:57465827-57465828	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2535G>T; p.Q845H; 12:57471275-57471275	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2610T>C; p.P870P; 12:57471350-57471350	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2673G>A; p.G891G; 12:57471413-57471413	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3053G>A; p.R1018K; 12:57471793-57471793	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3096G>A; p.Q1032Q; 12:57471836-57471836	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1083G>A; p.P361P; 12:57467999-57467999	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.959C>T; p.T320M; 12:57467379-57467379	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2046C>A; p.T682T; 12:57470786-57470786	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2480C>T; p.T827I; 12:57471220-57471220	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.606C>G; p.P202P; 12:57465678-57465678	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2005G>A; p.V669M; 12:57470745-57470745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2450A>G; p.E817G; 12:57471190-57471190	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2553C>A; p.Y851*; 12:57471293-57471293	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.511C>T; p.R171W; 12:57465232-57465232	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2741G>A; p.G914D; 12:57471481-57471481	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2741G>A; p.G914D; 12:57471481-57471481	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2741G>A; p.G914D; 12:57471481-57471481	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3282C>T; p.S1094S; 12:57472022-57472022	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1138C>T; p.R380*; 12:57468054-57468054	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1138C>T; p.R380*; 12:57468054-57468054	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1490G>A; p.R497H; 12:57469612-57469612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.628C>T; p.P210S; 12:57465791-57465791	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3153T>C; p.A1051A; 12:57471893-57471893	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.97G>T; p.E33*; 12:57463788-57463788	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.815_816delGG; p.G274fs*32; 12:57466292-57466293	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.815_816delGG; p.G274fs*32; 12:57466292-57466293	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.629C>T; p.P210L; 12:57465792-57465792	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1214G>A; p.R405Q; 12:57468130-57468130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.336G>A; p.S112S; 12:57464815-57464815	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2916A>C; p.E972D; 12:57471656-57471656	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2916A>C; p.E972D; 12:57471656-57471656	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1148T>C; p.V383A; 12:57468064-57468064	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1540A>G; p.T514A; 12:57469662-57469662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.788G>A; p.G263E; 12:57466265-57466265	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2598C>A; p.T866T; 12:57471338-57471338	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.612C>A; p.S204S; 12:57465684-57465684	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1716G>T; p.E572D; 12:57470456-57470456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.815delG; p.G274fs*6; 12:57466292-57466292	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.815delG; p.G274fs*6; 12:57466292-57466292	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.815delG; p.G274fs*6; 12:57466292-57466292	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.815delG; p.G274fs*6; 12:57466292-57466292	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.815delG; p.G274fs*6; 12:57466292-57466292	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.815delG; p.G274fs*6; 12:57466292-57466292	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.815delG; p.G274fs*6; 12:57466292-57466292	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.815delG; p.G274fs*6; 12:57466292-57466292	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.815delG; p.G274fs*6; 12:57466292-57466292	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.815delG; p.G274fs*6; 12:57466292-57466292	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.815delG; p.G274fs*6; 12:57466292-57466292	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.815delG; p.G274fs*6; 12:57466292-57466292	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.815delG; p.G274fs*6; 12:57466292-57466292	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1005C>T; p.H335H; 12:57467425-57467425	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1569C>A; p.S523S; 12:57469691-57469691	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1139G>A; p.R380Q; 12:57468055-57468055	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1139G>A; p.R380Q; 12:57468055-57468055	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1139G>A; p.R380Q; 12:57468055-57468055	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.664G>A; p.E222K; 12:57465827-57465827	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.266C>T; p.S89L; 12:57464745-57464745	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.610T>C; p.S204P; 12:57465682-57465682	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.482G>A; p.R161Q; 12:57465203-57465203	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.786C>T; p.H262H; 12:57466263-57466263	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.723C>G; p.G241G; 12:57465886-57465886	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.343A>G; p.T115A; 12:57464822-57464822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3302T>C; p.F1101S; 12:57472042-57472042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.804C>T; p.F268F; 12:57466281-57466281	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3238delC; p.N1082fs*7; 12:57471978-57471978	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2915delA; p.N973fs*3; 12:57471655-57471655	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.814_815insG; p.C275fs*32; 12:57466291-57466292	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.814_815insG; p.C275fs*32; 12:57466291-57466292	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.814_815insG; p.C275fs*32; 12:57466291-57466292	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.319G>A; p.V107I; 12:57464798-57464798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3320A>C; p.*1107S; 12:57472060-57472060	liver	carcinoma	Nonstop extension
c.1106G>T; p.C369F; 12:57468022-57468022	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.938C>A; p.S313*; 12:57467358-57467358	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1325C>T; p.P442L; 12:57469447-57469447	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2007G>T; p.V669V; 12:57470747-57470747	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1720G>A; p.G574R; 12:57470460-57470460	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.81C>A; p.A27A; 12:57463772-57463772	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2140G>A; p.V714M; 12:57470880-57470880	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1899_1900ins15; p.T636_R637insNAGVT; 12:57470639-57470640	lung	carcinoma; non_small_cell_carcinoma	Insertion - In frame
c.472G>T; p.D158Y; 12:57465193-57465193	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.472G>T; p.D158Y; 12:57465193-57465193	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2113G>A; p.E705K; 12:57470853-57470853	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1493T>G; p.L498R; 12:57469615-57469615	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1085A>G; p.Y362C; 12:57468001-57468001	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.141G>A; p.M47I; 12:57464039-57464039	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2070C>T; p.P690P; 12:57470810-57470810	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2253G>T; p.L751L; 12:57470993-57470993	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2947C>T; p.H983Y; 12:57471687-57471687	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.298C>T; p.R100C; 12:57464777-57464777	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.298C>T; p.R100C; 12:57464777-57464777	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.280G>T; p.D94Y; 12:57464759-57464759	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1820C>T; p.S607F; 12:57470560-57470560	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.599C>G; p.S200C; 12:57465671-57465671	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3137A>T; p.Q1046L; 12:57471877-57471877	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1908C>A; p.T636T; 12:57470648-57470648	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3295A>G; p.T1099A; 12:57472035-57472035	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1503C>G; p.L501L; 12:57469625-57469625	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.123C>A; p.C41*; 12:57464021-57464021	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1503C>T; p.L501L; 12:57469625-57469625	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1948G>T; p.A650S; 12:57470688-57470688	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>T; p.G469C; 12:57469527-57469527	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2555C>T; p.P852L; 12:57471295-57471295	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1387_1388delAG; p.S463fs*13; 12:57469509-57469510	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1490G>A; p.R497H; 12:57469612-57469612	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3276G>A; p.L1092L; 12:57472016-57472016	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1867C>T; p.R623*; 12:57470607-57470607	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.984G>A; p.E328E; 12:57467404-57467404	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.113C>T; p.P38L; 12:57464011-57464011	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2464_2465insT; p.S824fs*2; 12:57471204-57471205	oesophagus; lower_third	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2413C>T; p.R805*; 12:57471153-57471153	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1910G>A; p.R637Q; 12:57470650-57470650	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1348A>C; p.S450R; 12:57469470-57469470	ovary	other; neoplasm	Substitution - Missense
c.440C>A; p.P147H; 12:57465161-57465161	ovary	other; neoplasm	Substitution - Missense
c.3279A>T; p.R1093S; 12:57472019-57472019	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.344C>T; p.T115I; 12:57464823-57464823	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.794G>A; p.R265Q; 12:57466271-57466271	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.336G>A; p.S112S; 12:57464815-57464815	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1247G>C; p.R416T; 12:57468163-57468163	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1941C>A; p.D647E; 12:57470681-57470681	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1896T>A; p.N632K; 12:57470636-57470636	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2234C>T; p.A745V; 12:57470974-57470974	pancreas	carcinoma	Substitution - Missense
c.2112G>A; p.Q704Q; 12:57470852-57470852	pancreas	carcinoma	Substitution - coding silent
c.2305C>T; p.Q769*; 12:57471045-57471045	pancreas	carcinoma	Substitution - Nonsense
c.2157C>T; p.N719N; 12:57470897-57470897	pancreas	carcinoma	Substitution - coding silent
c.96A>G; p.T32T; 12:57463787-57463787	pancreas	carcinoma	Substitution - coding silent
c.80delC; p.S29fs*49; 12:57463771-57463771	pancreas	carcinoma; acinar_carcinoma	Deletion - Frameshift
c.207T>A; p.S69S; 12:57464686-57464686	pancreas	carcinoma	Substitution - coding silent
c.207T>A; p.S69S; 12:57464686-57464686	pancreas	carcinoma	Substitution - coding silent
c.338G>A; p.R113Q; 12:57464817-57464817	pancreas	NS	Substitution - Missense
c.940C>T; p.R314C; 12:57467360-57467360	pancreas	carcinoma	Substitution - Missense
c.2207A>T; p.E736V; 12:57470947-57470947	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.164C>A; p.P55Q; 12:57464062-57464062	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.530G>A; p.C177Y; 12:57465251-57465251	prostate	adenoma	Substitution - Missense
c.1574C>A; p.T525N; 12:57469696-57469696	prostate	carcinoma	Substitution - Missense
c.1669C>T; p.R557C; 12:57470409-57470409	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2749G>T; p.D917Y; 12:57471489-57471489	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2274C>T; p.P758P; 12:57471014-57471014	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2807T>C; p.V936A; 12:57471547-57471547	skin	malignant_melanoma	Substitution - Missense
c.716G>A; p.W239*; 12:57465879-57465879	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1716G>A; p.E572E; 12:57470456-57470456	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.509C>T; p.S170F; 12:57465230-57465230	skin	malignant_melanoma	Substitution - Missense
c.571C>T; p.R191W; 12:57465643-57465643	skin	malignant_melanoma	Substitution - Missense
c.840G>A; p.R280R; 12:57466317-57466317	skin	malignant_melanoma	Substitution - coding silent
c.2249C>T; p.S750F; 12:57470989-57470989	skin	malignant_melanoma	Substitution - Missense
c.2167G>A; p.D723N; 12:57470907-57470907	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3013_3014GG>AA; p.G1005K; 12:57471753-57471754	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3205G>A; p.G1069S; 12:57471945-57471945	skin	malignant_melanoma	Substitution - Missense
c.3191C>T; p.S1064F; 12:57471931-57471931	skin	malignant_melanoma	Substitution - Missense
c.628C>T; p.P210S; 12:57465791-57465791	skin	malignant_melanoma	Substitution - Missense
c.1912A>G; p.R638G; 12:57470652-57470652	skin	malignant_melanoma	Substitution - Missense
c.1415G>A; p.G472E; 12:57469537-57469537	skin	malignant_melanoma	Substitution - Missense
c.2354_2355CC>TT; p.S785F; 12:57471094-57471095	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2641C>T; p.L881L; 12:57471381-57471381	skin	malignant_melanoma	Substitution - coding silent
c.3230C>T; p.P1077L; 12:57471970-57471970	skin	malignant_melanoma	Substitution - Missense
c.3292G>C; p.E1098Q; 12:57472032-57472032	skin	malignant_melanoma	Substitution - Missense
c.946G>A; p.E316K; 12:57467366-57467366	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2832A>C; p.P944P; 12:57471572-57471572	skin	malignant_melanoma	Substitution - coding silent
c.2541C>T; p.L847L; 12:57471281-57471281	skin	malignant_melanoma	Substitution - coding silent
c.2293C>T; p.P765S; 12:57471033-57471033	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2386C>T; p.L796L; 12:57471126-57471126	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.920G>A; p.G307E; 12:57467340-57467340	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1287G>A; p.L429L; 12:57468203-57468203	skin	malignant_melanoma	Substitution - coding silent
c.2580C>T; p.L860L; 12:57471320-57471320	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.612C>T; p.S204S; 12:57465684-57465684	skin	malignant_melanoma	Substitution - coding silent
c.2247C>T; p.G749G; 12:57470987-57470987	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2038C>T; p.L680F; 12:57470778-57470778	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2571C>T; p.P857P; 12:57471311-57471311	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.831G>A; p.R277R; 12:57466308-57466308	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2190G>A; p.L730L; 12:57470930-57470930	skin	malignant_melanoma	Substitution - coding silent
c.2998G>A; p.G1000R; 12:57471738-57471738	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2546C>T; p.S849F; 12:57471286-57471286	skin	malignant_melanoma	Substitution - Missense
c.143C>T; p.S48F; 12:57464041-57464041	skin	malignant_melanoma	Substitution - Missense
c.2783C>T; p.P928L; 12:57471523-57471523	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3317C>T; p.A1106V; 12:57472057-57472057	skin	malignant_melanoma	Substitution - Missense
c.2191_2192GG>AA; p.G731K; 12:57470931-57470932	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3292G>T; p.E1098*; 12:57472032-57472032	skin	malignant_melanoma	Substitution - Nonsense
c.445T>A; p.F149I; 12:57465166-57465166	skin	malignant_melanoma	Substitution - Missense
c.787G>A; p.G263R; 12:57466264-57466264	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3281C>T; p.S1094F; 12:57472021-57472021	skin	malignant_melanoma	Substitution - Missense
c.3281C>T; p.S1094F; 12:57472021-57472021	skin	malignant_melanoma	Substitution - Missense
c.3281C>T; p.S1094F; 12:57472021-57472021	skin	malignant_melanoma	Substitution - Missense
c.3030C>T; p.S1010S; 12:57471770-57471770	skin	malignant_melanoma	Substitution - coding silent
c.3092G>A; p.G1031E; 12:57471832-57471832	skin	malignant_melanoma	Substitution - Missense
c.2519G>A; p.G840E; 12:57471259-57471259	skin	malignant_melanoma	Substitution - Missense
c.1133C>T; p.S378L; 12:57468049-57468049	skin	malignant_melanoma	Substitution - Missense
c.3168C>T; p.P1056P; 12:57471908-57471908	skin; arm	malignant_melanoma	Substitution - coding silent
c.314C>T; p.S105F; 12:57464793-57464793	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.799G>A; p.E267K; 12:57466276-57466276	skin	malignant_melanoma	Substitution - Missense
c.657G>A; p.E219E; 12:57465820-57465820	skin	malignant_melanoma	Substitution - coding silent
c.1628G>A; p.S543N; 12:57470368-57470368	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1978C>A; p.L660M; 12:57470718-57470718	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.941G>A; p.R314H; 12:57467361-57467361	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.815_816insG; p.C275fs*32; 12:57466292-57466293	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.2112G>T; p.Q704H; 12:57470852-57470852	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.877C>T; p.R293C; 12:57466354-57466354	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.250T>C; p.S84P; 12:57464729-57464729	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.242G>A; p.R81Q; 12:57464721-57464721	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3237G>C; p.G1079G; 12:57471977-57471977	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.241C>T; p.R81W; 12:57464720-57464720	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1406G>T; p.G469V; 12:57469528-57469528	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2852G>A; p.G951D; 12:57471592-57471592	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.794G>A; p.R265Q; 12:57466271-57466271	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.926G>A; p.R309Q; 12:57467346-57467346	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.534+2T>C; p.?; 12:57465257-57465257	stomach	carcinoma; adenocarcinoma	Unknown
c.912+2T>C; p.?; 12:57466391-57466391	stomach	adenocarcinoma	Unknown
c.815delG; p.G274fs*6; 12:57466292-57466292	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3105_3106insC; p.L1037fs*5; 12:57471845-57471846	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.503C>A; p.P168H; 12:57465224-57465224	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.80delC; p.S29fs*49; 12:57463771-57463771	stomach	adenocarcinoma	Deletion - Frameshift
c.1873G>A; p.E625K; 12:57470613-57470613	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1806G>A; p.S602S; 12:57470546-57470546	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2360C>G; p.S787C; 12:57471100-57471100	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1665C>T; p.V555V; 12:57470405-57470405	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3090A>G; p.E1030E; 12:57471830-57471830	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1886_1887insCAACCC; p.N632_A633insPN; 12:57470626-57470627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2624C>T; p.S875L; 12:57471364-57471364	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2932G>C; p.A978P; 12:57471672-57471672	urinary_tract; bladder	carcinoma	Substitution - Missense
c.754C>A; p.L252M; 12:57465917-57465917	urinary_tract; bladder	carcinoma	Substitution - Missense
c.379G>A; p.G127S; 12:57464858-57464858	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2936A>G; p.N979S; 12:57471676-57471676	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1170C>T; p.D390D; 12:57468086-57468086	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3116C>T; p.S1039F; 12:57471856-57471856	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1704C>T; p.G568G; 12:57470444-57470444	urinary_tract; bladder	carcinoma	Substitution - coding silent

Oncogene database

COSMIC confirmed somatic mutation [Top]

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