Entrez Gene

Basic Information
Gene ID	23152
Name	CIC
Synonymous	capicua transcriptional repressor;CIC;capicua transcriptional repressor
Definition	protein capicua homolog
Position	19q13.2
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 0.33.

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.4007C>T; p.P1336L; 19:42293803-42293803	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4254C>A; p.S1418S; 19:42294231-42294231	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.346G>A; p.V116M; 19:42287134-42287134	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.794C>T; p.P265L; 19:42287838-42287838	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Missense
c.542G>T; p.R181L; 19:42287409-42287409	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2209G>A; p.A737T; 19:42290977-42290977	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.201C>A; p.A67A; 19:42286904-42286904	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2018_2019delCC; p.T673fs*16; 19:42290786-42290787	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_II	Deletion - Frameshift
c.416G>A; p.R139Q; 19:42287204-42287204	kidney	other; neoplasm	Substitution - Missense
c.758C>T; p.A253V; 19:42287720-42287720	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3443C>T; p.P1148L; 19:42292833-42292833	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1099G>T; p.E367*; 19:42289055-42289055	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2801G>A; p.R934Q; 19:42291660-42291660	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.758C>T; p.A253V; 19:42287720-42287720	central_nervous_system; brain	glioma	Substitution - Missense
c.70_71delTG; p.W24fs*26; 19:42286773-42286774	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - Frameshift
c.4550_4552delAGA; p.K1517del; 19:42294914-42294916	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Deletion - In frame
c.4719G>A; p.P1573P; 19:42295083-42295083	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.701T>A; p.L234Q; 19:42287663-42287663	central_nervous_system; brain	glioma	Substitution - Missense
c.4135_4136delCT; p.L1379fs*61; 19:42294029-42294030	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_III	Deletion - Frameshift
c.2531C>T; p.P844L; 19:42291299-42291299	skin	malignant_melanoma	Substitution - Missense
c.124C>T; p.P42S; 19:42286827-42286827	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1814_1815delGT; p.V606fs*83; 19:42290582-42290583	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - Frameshift
c.1739G>C; p.G580A; 19:42290507-42290507	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.750C>T; p.H250H; 19:42287712-42287712	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2190G>A; p.S730S; 19:42290958-42290958	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.116C>G; p.S39C; 19:42286819-42286819	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2357C>T; p.P786L; 19:42291125-42291125	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2559_2563delCAGCG; p.S854fs*75; 19:42291327-42291331	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Deletion - Frameshift
c.4450T>G; p.F1484V; 19:42294726-42294726	central_nervous_system; brain	glioma	Substitution - Missense
c.4533C>T; p.I1511I; 19:42294897-42294897	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3039C>T; p.H1013H; 19:42292330-42292330	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - coding silent
c.3150_3151insC; p.A1051fs*100; 19:42292441-42292442	breast	carcinoma; ductal_carcinoma	Insertion - Frameshift
c.3150_3151insC; p.A1051fs*100; 19:42292441-42292442	breast	carcinoma	Insertion - Frameshift
c.3039C>T; p.H1013H; 19:42292330-42292330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1196G>T; p.G399V; 19:42289242-42289242	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.110G>C; p.W37S; 19:42286813-42286813	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4226C>T; p.S1409L; 19:42294203-42294203	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.757G>A; p.A253T; 19:42287719-42287719	central_nervous_system; brain	glioma; oligodendroglioma	Substitution - Missense
c.4116_4116delC; p.S1373fs*42; 19:42294010-42294010	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - Frameshift
c.2162_2163CC>TT; p.S721F; 19:42290930-42290931	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4629C>T; p.T1543T; 19:42294993-42294993	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3337C>T; p.Q1113*; 19:42292727-42292727	central_nervous_system; brain	glioma	Substitution - Nonsense
c.3543G>C; p.K1181N; 19:42293029-42293029	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4201G>C; p.D1401H; 19:42294178-42294178	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4143C>T; p.T1381T; 19:42294037-42294037	liver	carcinoma	Substitution - coding silent
c.155_156CC>TT; p.S52F; 19:42286858-42286859	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3424G>A; p.A1142T; 19:42292814-42292814	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1954G>A; p.A652T; 19:42290722-42290722	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1485T>A; p.F495L; 19:42290253-42290253	skin	malignant_melanoma	Substitution - Missense
c.4825T>G; p.*1609G; 19:42295189-42295189	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Nonstop extension
c.168C>G; p.S56R; 19:42286871-42286871	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1711_1712insA; p.L571fs*119; 19:42290479-42290480	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1318C>T; p.R440C; 19:42289364-42289364	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.3512G>A; p.R1171Q; 19:42292998-42292998	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1318C>T; p.R440C; 19:42289364-42289364	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3198T>C; p.A1066A; 19:42292588-42292588	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.682C>T; p.R228W; 19:42287644-42287644	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Missense
c.2006C>T; p.A669V; 19:42290774-42290774	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1690C>T; p.Q564*; 19:42290458-42290458	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.682C>T; p.R228W; 19:42287644-42287644	central_nervous_system; brain	glioma	Substitution - Missense
c.4638C>A; p.A1546A; 19:42295002-42295002	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3168G>A; p.L1056L; 19:42292459-42292459	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2194A>C; p.K732Q; 19:42290962-42290962	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.688G>A; p.V230I; 19:42287650-42287650	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.688G>A; p.V230I; 19:42287650-42287650	prostate	carcinoma	Substitution - Missense
c.3343_3344CC>TT; p.P1115F; 19:42292733-42292734	skin	malignant_melanoma	Substitution - Missense
c.688G>A; p.V230I; 19:42287650-42287650	central_nervous_system; brain	glioma	Substitution - Missense
c.3640C>T; p.R1214*; 19:42293126-42293126	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.133G>A; p.A45T; 19:42286836-42286836	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3640C>T; p.R1214*; 19:42293126-42293126	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Nonsense
c.522C>G; p.L174L; 19:42287389-42287389	breast	carcinoma	Substitution - coding silent
c.3640C>T; p.R1214*; 19:42293126-42293126	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_II	Substitution - Nonsense
c.3743delC; p.P1248fs*54; 19:42293229-42293229	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_III	Deletion - Frameshift
c.1862C>T; p.P621L; 19:42290630-42290630	skin; extremity	malignant_melanoma	Substitution - Missense
c.613A>C; p.N205H; 19:42287575-42287575	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.2816G>C; p.G939A; 19:42291675-42291675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2816G>C; p.G939A; 19:42291675-42291675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2816G>C; p.G939A; 19:42291675-42291675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.952G>A; p.V318I; 19:42288908-42288908	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2816G>C; p.G939A; 19:42291675-42291675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2816G>C; p.G939A; 19:42291675-42291675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1733C>T; p.A578V; 19:42290501-42290501	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.952G>A; p.V318I; 19:42288908-42288908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2816G>C; p.G939A; 19:42291675-42291675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1733C>T; p.A578V; 19:42290501-42290501	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2816G>C; p.G939A; 19:42291675-42291675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2816G>C; p.G939A; 19:42291675-42291675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2816G>C; p.G939A; 19:42291675-42291675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3044_3045insC; p.P1016fs*135; 19:42292335-42292336	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Insertion - Frameshift
c.2146C>T; p.R716W; 19:42290914-42290914	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1976_1992del17; p.A659fs*25; 19:42290744-42290760	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - Frameshift
c.310G>A; p.E104K; 19:42287098-42287098	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.4318G>A; p.D1440N; 19:42294295-42294295	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1805G>T; p.R602I; 19:42290573-42290573	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1870G>T; p.G624*; 19:42290638-42290638	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4124C>T; p.T1375I; 19:42294018-42294018	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4007delC; p.P1336fs*3; 19:42293803-42293803	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - Frameshift
c.705C>T; p.G235G; 19:42287667-42287667	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.163C>T; p.P55S; 19:42286866-42286866	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.699_701delCCT; p.I233_L234>M; 19:42287661-42287663	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Complex - deletion inframe
c.2782G>A; p.A928T; 19:42291641-42291641	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.734A>C; p.E245A; 19:42287696-42287696	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.682C>G; p.R228G; 19:42287644-42287644	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_III	Substitution - Missense
c.2322_2323insCCCCCTG; p.V778fs*155; 19:42291090-42291091	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Insertion - Frameshift
c.3737_3738insC; p.L1249fs*6; 19:42293223-42293224	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.633_633delC; p.S211fs*46; 19:42287595-42287595	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Deletion - Frameshift
c.2322_2323insCCCCCTG; p.V778fs*155; 19:42291090-42291091	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Insertion - Frameshift
c.3257delC; p.G1088fs*5; 19:42292647-42292647	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.619T>A; p.F207I; 19:42287581-42287581	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.1033delG; p.G346fs*23; 19:42288989-42288989	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4459+1G>C; p.?; 19:42294736-42294736	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Unknown
c.1912G>A; p.E638K; 19:42290680-42290680	skin	malignant_melanoma	Substitution - Missense
c.2729_2730insGC; p.G912fs*13; 19:42291588-42291589	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Insertion - Frameshift
c.1912G>A; p.E638K; 19:42290680-42290680	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.415C>T; p.R139W; 19:42287203-42287203	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3310T>A; p.S1104T; 19:42292700-42292700	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3310T>A; p.S1104T; 19:42292700-42292700	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2111_2112delCA; p.T704fs*6; 19:42290879-42290880	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_III	Deletion - Frameshift
c.346G>T; p.V116L; 19:42287134-42287134	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_II	Substitution - Missense
c.4535G>T; p.R1512L; 19:42294899-42294899	central_nervous_system; brain	glioma	Substitution - Missense
c.4682C>T; p.S1561L; 19:42295046-42295046	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3382C>T; p.P1128S; 19:42292772-42292772	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4031_4032delCT; p.S1344fs*17; 19:42293827-42293828	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - Frameshift
c.2785C>G; p.P929A; 19:42291644-42291644	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1755C>T; p.S585S; 19:42290523-42290523	skin	malignant_melanoma	Substitution - coding silent
c.1251G>A; p.P417P; 19:42289297-42289297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2470C>T; p.Q824*; 19:42291238-42291238	central_nervous_system; brain	glioma	Substitution - Nonsense
c.2201C>T; p.S734L; 19:42290969-42290969	skin; sole	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.3321C>T; p.P1107P; 19:42292711-42292711	skin	malignant_melanoma	Substitution - coding silent
c.4790_4790delC; p.P1597fs*13; 19:42295154-42295154	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_II	Deletion - Frameshift
c.4151G>A; p.R1384Q; 19:42294045-42294045	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3157G>A; p.V1053M; 19:42292448-42292448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4790_4790delC; p.P1597fs*13; 19:42295154-42295154	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_II	Deletion - Frameshift
c.2691C>T; p.P897P; 19:42291459-42291459	skin	malignant_melanoma	Substitution - coding silent
c.1364A>G; p.D455G; 19:42289851-42289851	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.683G>A; p.R228Q; 19:42287645-42287645	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3937C>T; p.R1313W; 19:42293733-42293733	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.736A>G; p.K246E; 19:42287698-42287698	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.2350G>C; p.G784R; 19:42291118-42291118	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2733G>A; p.P911P; 19:42291592-42291592	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1210C>T; p.P404S; 19:42289256-42289256	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.523_524delAG; p.S175fs*11; 19:42287390-42287391	central_nervous_system; brain	glioma; oligoastrocytoma	Deletion - Frameshift
c.4159C>T; p.L1387L; 19:42294053-42294053	skin	malignant_melanoma	Substitution - coding silent
c.154_155insC; p.V53fs*24; 19:42286857-42286858	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Insertion - Frameshift
c.644G>A; p.R215Q; 19:42287606-42287606	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_II	Substitution - Missense
c.644G>A; p.R215Q; 19:42287606-42287606	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_II	Substitution - Missense
c.644G>A; p.R215Q; 19:42287606-42287606	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.644G>A; p.R215Q; 19:42287606-42287606	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.644G>A; p.R215Q; 19:42287606-42287606	central_nervous_system; brain	glioma	Substitution - Missense
c.644G>A; p.R215Q; 19:42287606-42287606	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.3685C>G; p.P1229A; 19:42293171-42293171	prostate	carcinoma	Substitution - Missense
c.1798C>T; p.R600C; 19:42290566-42290566	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1798C>T; p.R600C; 19:42290566-42290566	large_intestine; colon	carcinoma	Substitution - Missense
c.2211C>A; p.A737A; 19:42290979-42290979	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2211C>A; p.A737A; 19:42290979-42290979	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2086C>T; p.R696W; 19:42290854-42290854	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.766-1G>C; p.?; 19:42287809-42287809	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Unknown
c.1755C>A; p.S585S; 19:42290523-42290523	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.703G>T; p.G235C; 19:42287665-42287665	central_nervous_system; brain	glioma	Substitution - Missense
c.1592_1593insC; p.S533fs*157; 19:42290360-42290361	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.908C>T; p.T303M; 19:42287952-42287952	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3545C>T; p.A1182V; 19:42293031-42293031	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4392G>A; p.R1464R; 19:42294668-42294668	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4392G>A; p.R1464R; 19:42294668-42294668	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4392G>A; p.R1464R; 19:42294668-42294668	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4626C>T; p.G1542G; 19:42294990-42294990	liver	carcinoma	Substitution - coding silent
c.4392G>A; p.R1464R; 19:42294668-42294668	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4392G>A; p.R1464R; 19:42294668-42294668	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4392G>A; p.R1464R; 19:42294668-42294668	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4392G>A; p.R1464R; 19:42294668-42294668	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2860C>T; p.Q954*; 19:42291719-42291719	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4626C>T; p.G1542G; 19:42294990-42294990	liver	carcinoma	Substitution - coding silent
c.4392G>A; p.R1464R; 19:42294668-42294668	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4483G>A; p.A1495T; 19:42294847-42294847	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4486C>T; p.R1496C; 19:42294850-42294850	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4486C>T; p.R1496C; 19:42294850-42294850	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2280C>T; p.V760V; 19:42291048-42291048	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1583A>G; p.Y528C; 19:42290351-42290351	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.473C>T; p.P158L; 19:42287340-42287340	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2904G>A; p.P968P; 19:42292103-42292103	pancreas	carcinoma	Substitution - coding silent
c.1283G>A; p.R428H; 19:42289329-42289329	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4213G>T; p.E1405*; 19:42294190-42294190	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3302C>T; p.A1101V; 19:42292692-42292692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.706G>T; p.E236*; 19:42287668-42287668	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3565G>T; p.V1189L; 19:42293051-42293051	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.765+2T>C; p.?; 19:42287729-42287729	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2026_2030delGTGCG; p.V676fs*12; 19:42290794-42290798	central_nervous_system; brain	glioma	Deletion - Frameshift
c.4544G>A; p.R1515H; 19:42294908-42294908	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.613_616AATG>T; p.N205_A206>S; 19:42287575-42287578	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Complex - deletion inframe
c.4544G>A; p.R1515H; 19:42294908-42294908	central_nervous_system; brain	glioma	Substitution - Missense
c.4544G>A; p.R1515H; 19:42294908-42294908	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.2026_2030delGTGCG; p.V676fs*12; 19:42290794-42290798	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.4582delC; p.P1529fs*>80; 19:42294946-42294946	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1725C>T; p.P575P; 19:42290493-42290493	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1739_1740insG; p.P581fs*109; 19:42290507-42290508	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Insertion - Frameshift
c.1057C>T; p.R353*; 19:42289013-42289013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.630_632delCAG; p.S211del; 19:42287592-42287594	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Deletion - In frame
c.4066G>A; p.E1356K; 19:42293960-42293960	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2258T>G; p.V753G; 19:42291026-42291026	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2258T>G; p.V753G; 19:42291026-42291026	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1808_1809CC>TT; p.P603L; 19:42290576-42290577	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.941A>T; p.E314V; 19:42288897-42288897	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2258T>G; p.V753G; 19:42291026-42291026	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3780G>A; p.K1260K; 19:42293266-42293266	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2258T>G; p.V753G; 19:42291026-42291026	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2258T>G; p.V753G; 19:42291026-42291026	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2903_2904insCCCC; p.V969fs*183; 19:42292102-42292103	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Insertion - Frameshift
c.4573A>G; p.T1525A; 19:42294937-42294937	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1106_1109delACAG; p.D369fs*7; 19:42289062-42289065	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Deletion - Frameshift
c.2774C>G; p.P925R; 19:42291633-42291633	skin	malignant_melanoma	Substitution - Missense
c.1135-1G>A; p.?; 19:42289180-42289180	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Unknown
c.643C>T; p.R215W; 19:42287605-42287605	central_nervous_system; brain	glioma	Substitution - Missense
c.643C>T; p.R215W; 19:42287605-42287605	central_nervous_system; brain	glioma	Substitution - Missense
c.643C>T; p.R215W; 19:42287605-42287605	central_nervous_system; brain	glioma; oligodendroglioma	Substitution - Missense
c.643C>T; p.R215W; 19:42287605-42287605	central_nervous_system; brain	glioma	Substitution - Missense
c.643C>T; p.R215W; 19:42287605-42287605	central_nervous_system; brain	glioma; oligodendroglioma	Substitution - Missense
c.643C>T; p.R215W; 19:42287605-42287605	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_II	Substitution - Missense
c.643C>T; p.R215W; 19:42287605-42287605	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Missense
c.643C>T; p.R215W; 19:42287605-42287605	central_nervous_system; brain	glioma	Substitution - Missense
c.1445_1446insG; p.D483fs*31; 19:42289932-42289933	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Insertion - Frameshift
c.1445_1446insG; p.D483fs*31; 19:42289932-42289933	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Insertion - Frameshift
c.643C>T; p.R215W; 19:42287605-42287605	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.643C>T; p.R215W; 19:42287605-42287605	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.643C>T; p.R215W; 19:42287605-42287605	central_nervous_system; brain	glioma; oligodendroglioma	Substitution - Missense
c.2699-1G>A; p.?; 19:42291557-42291557	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.2699-1G>A; p.?; 19:42291557-42291557	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Unknown
c.605G>A; p.R202Q; 19:42287567-42287567	central_nervous_system; brain	glioma	Substitution - Missense
c.4121C>T; p.P1374L; 19:42294015-42294015	skin	malignant_melanoma	Substitution - Missense
c.3341delC; p.P1116fs*45; 19:42292731-42292731	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2699-1G>A; p.?; 19:42291557-42291557	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Unknown
c.605G>A; p.R202Q; 19:42287567-42287567	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_II	Substitution - Missense
c.2634T>C; p.A878A; 19:42291402-42291402	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.716A>G; p.Y239C; 19:42287678-42287678	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_II	Substitution - Missense
c.2634T>C; p.A878A; 19:42291402-42291402	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2634T>C; p.A878A; 19:42291402-42291402	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2634T>C; p.A878A; 19:42291402-42291402	thyroid	other; neoplasm	Substitution - coding silent
c.662G>A; p.R221H; 19:42287624-42287624	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.662G>A; p.R221H; 19:42287624-42287624	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2176A>C; p.S726R; 19:42290944-42290944	central_nervous_system; brain	glioma	Substitution - Missense
c.2176A>C; p.S726R; 19:42290944-42290944	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2587C>T; p.R863C; 19:42291355-42291355	skin	malignant_melanoma	Substitution - Missense
c.916G>A; p.A306T; 19:42287960-42287960	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.3410_3411insC; p.P1139fs*12; 19:42292800-42292801	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2214C>A; p.T738T; 19:42290982-42290982	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.677A>G; p.D226G; 19:42287639-42287639	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_III	Substitution - Missense
c.2533G>A; p.A845T; 19:42291301-42291301	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.202T>A; p.S68T; 19:42286905-42286905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4449C>T; p.F1483F; 19:42294725-42294725	skin	malignant_melanoma	Substitution - coding silent
c.1387A>G; p.I463V; 19:42289874-42289874	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2458delG; p.G821fs*103; 19:42291226-42291226	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1768T>C; p.F590L; 19:42290536-42290536	skin	malignant_melanoma	Substitution - Missense
c.2731C>T; p.P911S; 19:42291590-42291590	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2981_2981delA; p.Q994fs*45; 19:42292180-42292180	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Deletion - Frameshift
c.3019_3031delGTGCAGTCAGCGG; p.V1007fs*28; 19:42292310-42292322	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2981_2981delA; p.Q994fs*45; 19:42292180-42292180	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - Frameshift
c.4296C>T; p.C1432C; 19:42294273-42294273	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4454C>T; p.P1485L; 19:42294730-42294730	central_nervous_system; brain	glioma; oligodendroglioma	Substitution - Missense
c.1795_1795delC; p.R599fs*129; 19:42290563-42290563	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - Frameshift
c.2159G>T; p.G720V; 19:42290927-42290927	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.704G>A; p.G235D; 19:42287666-42287666	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Missense
c.1104_1107delAGAC; p.D369fs*7; 19:42289060-42289063	central_nervous_system; brain	glioma; oligodendroglioma	Deletion - Frameshift
c.3257C>T; p.A1086V; 19:42292647-42292647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3738delC; p.P1248fs*54; 19:42293224-42293224	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1520G>A; p.R507H; 19:42290288-42290288	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3522G>A; p.P1174P; 19:42293008-42293008	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3738delC; p.P1248fs*54; 19:42293224-42293224	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3738delC; p.P1248fs*54; 19:42293224-42293224	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2237C>T; p.A746V; 19:42291005-42291005	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2422C>A; p.L808M; 19:42291190-42291190	kidney	other; neoplasm	Substitution - Missense
c.3609A>T; p.A1203A; 19:42293095-42293095	oesophagus	carcinoma	Substitution - coding silent
c.4784C>T; p.S1595F; 19:42295148-42295148	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Missense
c.277_278insGAGTGCTG; p.D93fs*115; 19:42287065-42287066	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_III	Insertion - Frameshift
c.188G>T; p.S63I; 19:42286891-42286891	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4534C>T; p.R1512C; 19:42294898-42294898	breast	carcinoma	Substitution - Missense
c.3009-1G>T; p.?; 19:42292299-42292299	central_nervous_system; brain	glioma	Unknown
c.638G>C; p.R213P; 19:42287600-42287600	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.638G>C; p.R213P; 19:42287600-42287600	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.1549delC; p.P518fs*5; 19:42290317-42290317	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.288G>C; p.R96R; 19:42287076-42287076	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4234_4250del17; p.R1412fs*23; 19:42294211-42294227	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - Frameshift
c.1549delC; p.P518fs*5; 19:42290317-42290317	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3653C>T; p.A1218V; 19:42293139-42293139	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.4436A>C; p.Q1479P; 19:42294712-42294712	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_II	Substitution - Missense
c.1815_1816delTG; p.V606fs*83; 19:42290583-42290584	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - Frameshift
c.4004C>A; p.P1335H; 19:42293800-42293800	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.633C>G; p.S211R; 19:42287595-42287595	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_III	Substitution - Missense
c.676G>T; p.D226Y; 19:42287638-42287638	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.369G>A; p.P123P; 19:42287157-42287157	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1051C>T; p.R351W; 19:42289007-42289007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1844C>A; p.S615*; 19:42290612-42290612	fallopian_tube	carcinoma; serous_carcinoma	Substitution - Nonsense
c.3763G>C; p.E1255Q; 19:42293249-42293249	breast	carcinoma	Substitution - Missense
c.1105G>A; p.D369N; 19:42289061-42289061	skin	malignant_melanoma	Substitution - Missense
c.2956C>G; p.L986V; 19:42292155-42292155	skin	malignant_melanoma	Substitution - Missense
c.433_434delGA; p.S146fs*1; 19:42287221-42287222	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - Frameshift
c.877A>T; p.K293*; 19:42287921-42287921	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Nonsense
c.330C>T; p.P110P; 19:42287118-42287118	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4118delC; p.T1375fs*40; 19:42294012-42294012	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4118delC; p.T1375fs*40; 19:42294012-42294012	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4502_4503insA; p.F1501fs*13; 19:42294866-42294867	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Insertion - Frameshift
c.4118delC; p.T1375fs*40; 19:42294012-42294012	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.840G>A; p.E280E; 19:42287884-42287884	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.820C>T; p.R274*; 19:42287864-42287864	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.820C>T; p.R274*; 19:42287864-42287864	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3829C>T; p.R1277C; 19:42293625-42293625	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.859G>T; p.G287W; 19:42287903-42287903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4132T>C; p.S1378P; 19:42294026-42294026	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1453G>T; p.E485*; 19:42289940-42289940	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4781C>T; p.P1594L; 19:42295145-42295145	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_III	Substitution - Missense
c.1794C>G; p.F598L; 19:42290562-42290562	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3347_3348insC; p.S1117fs*34; 19:42292737-42292738	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Insertion - Frameshift
c.603G>A; p.R201R; 19:42287565-42287565	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3347_3348insC; p.S1117fs*34; 19:42292737-42292738	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Insertion - Frameshift
c.4251C>T; p.R1417R; 19:42294228-42294228	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4420G>C; p.V1474L; 19:42294696-42294696	central_nervous_system; brain	glioma	Substitution - Missense
c.2694_2695insC; p.K899fs*32; 19:42291462-42291463	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Insertion - Frameshift
c.3832G>A; p.V1278I; 19:42293628-42293628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2492C>T; p.T831M; 19:42291260-42291260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2492C>T; p.T831M; 19:42291260-42291260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.499G>A; p.G167R; 19:42287366-42287366	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.607C>G; p.P203A; 19:42287569-42287569	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.1715G>A; p.R572Q; 19:42290483-42290483	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2698G>C; p.A900P; 19:42291466-42291466	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3365_3366delTG; p.V1122fs*28; 19:42292755-42292756	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_III	Deletion - Frameshift
c.4561G>A; p.A1521T; 19:42294925-42294925	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1521delC; p.P509fs*14; 19:42290289-42290289	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1521delC; p.P509fs*14; 19:42290289-42290289	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2059G>A; p.A687T; 19:42290827-42290827	central_nervous_system; brain	glioma	Substitution - Missense
c.4421T>G; p.V1474G; 19:42294697-42294697	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.4421T>G; p.V1474G; 19:42294697-42294697	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.566G>A; p.G189E; 19:42287433-42287433	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.821G>A; p.R274Q; 19:42287865-42287865	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3131C>A; p.S1044*; 19:42292422-42292422	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Nonsense
c.4543C>T; p.R1515C; 19:42294907-42294907	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.4543C>T; p.R1515C; 19:42294907-42294907	central_nervous_system; brain	glioma	Substitution - Missense
c.4543C>T; p.R1515C; 19:42294907-42294907	central_nervous_system; brain	glioma	Substitution - Missense
c.4543C>T; p.R1515C; 19:42294907-42294907	central_nervous_system; brain	glioma	Substitution - Missense
c.4543C>T; p.R1515C; 19:42294907-42294907	central_nervous_system; brain	glioma	Substitution - Missense
c.432_433delAG; p.S146fs*1; 19:42287220-42287221	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.3340_3341insC; p.S1117fs*34; 19:42292730-42292731	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3340_3341insC; p.S1117fs*34; 19:42292730-42292731	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3340_3341insC; p.S1117fs*34; 19:42292730-42292731	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2302C>A; p.P768T; 19:42291070-42291070	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.556G>C; p.E186Q; 19:42287423-42287423	urinary_tract; bladder	carcinoma	Substitution - Missense
c.607C>T; p.P203S; 19:42287569-42287569	central_nervous_system; brain	glioma	Substitution - Missense
c.109T>C; p.W37R; 19:42286812-42286812	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3516C>A; p.P1172P; 19:42293002-42293002	prostate	carcinoma	Substitution - coding silent
c.2887-1G>A; p.?; 19:42292085-42292085	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Unknown
c.3552C>T; p.I1184I; 19:42293038-42293038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.629T>G; p.F210C; 19:42287591-42287591	central_nervous_system; brain	glioma	Substitution - Missense
c.3588C>T; p.A1196A; 19:42293074-42293074	skin	malignant_melanoma	Substitution - coding silent
c.1417G>A; p.D473N; 19:42289904-42289904	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1265G>A; p.R422Q; 19:42289311-42289311	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.797A>T; p.D266V; 19:42287841-42287841	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Missense
c.4131_4156del26; p.Q1377fs*55; 19:42294025-42294050	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - Frameshift
c.626T>G; p.I209S; 19:42287588-42287588	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.324C>T; p.P108P; 19:42287112-42287112	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2005G>A; p.A669T; 19:42290773-42290773	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2937G>A; p.P979P; 19:42292136-42292136	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4412G>A; p.R1471Q; 19:42294688-42294688	central_nervous_system; brain	glioma	Substitution - Missense
c.4412G>A; p.R1471Q; 19:42294688-42294688	central_nervous_system; brain	glioma	Substitution - Missense
c.568C>T; p.R190C; 19:42287435-42287435	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1707delC; p.L571fs*157; 19:42290475-42290475	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.745T>C; p.Y249H; 19:42287707-42287707	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4643C>T; p.A1548V; 19:42295007-42295007	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.1707delC; p.L571fs*157; 19:42290475-42290475	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.320G>A; p.G107E; 19:42287108-42287108	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.745T>C; p.Y249H; 19:42287707-42287707	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.805T>C; p.W269R; 19:42287849-42287849	central_nervous_system; brain	glioma	Substitution - Missense
c.2479T>C; p.Y827H; 19:42291247-42291247	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.768_770delGAA; p.K257del; 19:42287812-42287814	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - In frame
c.2225C>T; p.P742L; 19:42290993-42290993	skin	malignant_melanoma	Substitution - Missense
c.768_770delGAA; p.K257del; 19:42287812-42287814	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_III	Deletion - In frame
c.1092C>T; p.D364D; 19:42289048-42289048	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1337A>T; p.E446V; 19:42289383-42289383	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1092C>T; p.D364D; 19:42289048-42289048	breast	carcinoma	Substitution - coding silent
c.1505C>T; p.S502F; 19:42290273-42290273	skin	malignant_melanoma	Substitution - Missense
c.2839C>T; p.P947S; 19:42291698-42291698	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4547_4549delAGA; p.K1517delK; 19:42294911-42294913	central_nervous_system; brain	glioma; oligodendroglioma	Deletion - In frame
c.4249C>T; p.R1417C; 19:42294226-42294226	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4547_4549delAGA; p.K1517delK; 19:42294911-42294913	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Deletion - In frame
c.4249C>T; p.R1417C; 19:42294226-42294226	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3197C>T; p.A1066V; 19:42292587-42292587	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.579delC; p.N193fs*12; 19:42287446-42287446	central_nervous_system; brain	glioma; oligodendroglioma	Deletion - Frameshift
c.479T>A; p.I160N; 19:42287346-42287346	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1356C>T; p.V452V; 19:42289402-42289402	skin	malignant_melanoma	Substitution - coding silent
c.4420G>T; p.V1474F; 19:42294696-42294696	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.4420G>T; p.V1474F; 19:42294696-42294696	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.2943G>C; p.L981L; 19:42292142-42292142	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.901T>C; p.S301P; 19:42287945-42287945	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4535G>A; p.R1512H; 19:42294899-42294899	central_nervous_system; brain	glioma	Substitution - Missense
c.4535G>A; p.R1512H; 19:42294899-42294899	central_nervous_system; brain	glioma	Substitution - Missense
c.1861C>T; p.P621S; 19:42290629-42290629	skin	malignant_melanoma	Substitution - Missense
c.984C>G; p.T328T; 19:42288940-42288940	central_nervous_system; brain	glioma	Substitution - coding silent
c.2980C>T; p.Q994*; 19:42292179-42292179	central_nervous_system; brain	glioma	Substitution - Nonsense
c.984C>G; p.T328T; 19:42288940-42288940	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2980C>T; p.Q994*; 19:42292179-42292179	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Nonsense
c.638G>A; p.R213Q; 19:42287600-42287600	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3647_3648insA; p.T1217fs*6; 19:42293133-42293134	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2332_2333insG; p.V778fs*153; 19:42291100-42291101	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1885C>T; p.Q629*; 19:42290653-42290653	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3738C>T; p.S1246S; 19:42293224-42293224	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.453-2A>T; p.?; 19:42287318-42287318	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Unknown
c.714G>A; p.W238*; 19:42287676-42287676	central_nervous_system; brain	glioma	Substitution - Nonsense
c.1499G>A; p.R500H; 19:42290267-42290267	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.4544G>T; p.R1515L; 19:42294908-42294908	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Missense
c.89G>A; p.R30H; 19:42286792-42286792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.518C>T; p.S173F; 19:42287385-42287385	skin; neck	malignant_melanoma	Substitution - Missense
c.518C>T; p.S173F; 19:42287385-42287385	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2166G>A; p.P722P; 19:42290934-42290934	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.614A>G; p.N205S; 19:42287576-42287576	central_nervous_system; brain	glioma	Substitution - Missense
c.3009-1G>A; p.?; 19:42292299-42292299	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.1930G>T; p.G644*; 19:42290698-42290698	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3345C>T; p.P1115P; 19:42292735-42292735	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.4452C>A; p.F1484L; 19:42294728-42294728	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Missense
c.4615delC; p.T1541fs*>68; 19:42294979-42294979	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1122G>T; p.Q374H; 19:42289078-42289078	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3875C>T; p.P1292L; 19:42293671-42293671	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1474C>T; p.R492W; 19:42290242-42290242	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1744G>C; p.A582P; 19:42290512-42290512	breast	carcinoma	Substitution - Missense
c.1288G>A; p.A430T; 19:42289334-42289334	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.601C>T; p.R201W; 19:42287563-42287563	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.452+1G>A; p.?; 19:42287241-42287241	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.601C>T; p.R201W; 19:42287563-42287563	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Missense
c.1116G>A; p.A372A; 19:42289072-42289072	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.601C>T; p.R201W; 19:42287563-42287563	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.1953C>T; p.P651P; 19:42290721-42290721	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4166C>T; p.S1389F; 19:42294060-42294060	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.601C>T; p.R201W; 19:42287563-42287563	central_nervous_system; brain	glioma	Substitution - Missense
c.601C>T; p.R201W; 19:42287563-42287563	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Missense
c.601C>T; p.R201W; 19:42287563-42287563	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.601C>T; p.R201W; 19:42287563-42287563	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.4420_4422delGTC; p.V1474del; 19:42294696-42294698	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - In frame
c.1018C>T; p.R340W; 19:42288974-42288974	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1018C>T; p.R340W; 19:42288974-42288974	large_intestine; colon	carcinoma	Substitution - Missense
c.1018C>T; p.R340W; 19:42288974-42288974	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1542C>A; p.P514P; 19:42290310-42290310	breast	carcinoma	Substitution - coding silent
c.1804_1814del11; p.R602fs*84; 19:42290572-42290582	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_III	Deletion - Frameshift
c.4460delC; p.Q1488fs*22; 19:42294824-42294824	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.3311C>T; p.S1104F; 19:42292701-42292701	skin	malignant_melanoma	Substitution - Missense
c.2986G>T; p.V996F; 19:42292185-42292185	urinary_tract; bladder	carcinoma	Substitution - Missense
c.359G>C; p.G120A; 19:42287147-42287147	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3456C>T; p.F1152F; 19:42292846-42292846	skin	malignant_melanoma	Substitution - coding silent
c.2241A>G; p.G747G; 19:42291009-42291009	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2986G>T; p.V996F; 19:42292185-42292185	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.747C>A; p.Y249*; 19:42287709-42287709	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.359G>T; p.G120V; 19:42287147-42287147	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2209G>T; p.A737S; 19:42290977-42290977	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4115C>T; p.P1372L; 19:42294009-42294009	skin	malignant_melanoma	Substitution - Missense
c.1220G>A; p.G407E; 19:42289266-42289266	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2719C>T; p.Q907*; 19:42291578-42291578	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Nonsense
c.1281G>C; p.Q427H; 19:42289327-42289327	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.783C>T; p.F261F; 19:42287827-42287827	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3045G>A; p.L1015L; 19:42292336-42292336	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.939T>C; p.S313S; 19:42288895-42288895	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2103_2104delAA; p.N702fs*1; 19:42290871-42290872	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - Frameshift
c.1766G>A; p.R589Q; 19:42290534-42290534	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4630G>C; p.A1544P; 19:42294994-42294994	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.381G>A; p.T127T; 19:42287169-42287169	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.604C>T; p.R202W; 19:42287566-42287566	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Missense
c.2335C>T; p.Q779*; 19:42291103-42291103	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_III	Substitution - Nonsense
c.604C>T; p.R202W; 19:42287566-42287566	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Missense
c.604C>T; p.R202W; 19:42287566-42287566	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.611T>C; p.M204T; 19:42287573-42287573	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.604C>T; p.R202W; 19:42287566-42287566	central_nervous_system; brain	glioma	Substitution - Missense

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]