Entrez Gene

Basic Information
Gene ID	7249
Name	TSC2
Synonymous	tuberous sclerosis 2;TSC2;tuberous sclerosis 2
Definition	protein phosphatase 1, regulatory subunit 160\|tuberin\|tuberous sclerosis 2 protein
Position	16p13.3
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.35.

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.2702G>A; p.R901H; 16:2076130-2076130	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2673C>T; p.H891H; 16:2076101-2076101	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2883A>C; p.P961P; 16:2077643-2077643	breast	carcinoma	Substitution - coding silent
c.4249_4249delC; p.R1417fs*59; 16:2084471-2084471	lung	other; lymphangioleiomyomatosis	Deletion - Frameshift
c.4249_4249delC; p.R1417fs*59; 16:2084471-2084471	lung	other; lymphangioleiomyomatosis	Deletion - Frameshift
c.1381G>A; p.V461M; 16:2062991-2062991	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4249_4249delC; p.R1417fs*59; 16:2084471-2084471	lung	other; lymphangioleiomyomatosis	Deletion - Frameshift
c.481+5G>A; p.?; 16:2054445-2054445	liver	carcinoma	Unknown
c.4249_4249delC; p.R1417fs*59; 16:2084471-2084471	lung	other; lymphangioleiomyomatosis	Deletion - Frameshift
c.2409G>T; p.Q803H; 16:2074253-2074253	liver	carcinoma	Substitution - Missense
c.481+5G>A; p.?; 16:2054445-2054445	liver	carcinoma	Unknown
c.481+5G>A; p.?; 16:2054445-2054445	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.3564C>T; p.P1188P; 16:2080331-2080331	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.4249_4249delC; p.R1417fs*59; 16:2084471-2084471	lung	other; lymphangioleiomyomatosis	Deletion - Frameshift
c.552C>T; p.V184V; 16:2055472-2055472	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1733delT; p.L578fs*120; 16:2070472-2070472	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.4346C>G; p.S1449C; 16:2084568-2084568	breast	carcinoma	Substitution - Missense
c.5228G>A; p.R1743Q; 16:2088294-2088294	central_nervous_system; caudate_nucleus	glioma; astrocytoma_Grade_I	Substitution - Missense
c.3490G>A; p.A1164T; 16:2080257-2080257	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.256G>C; p.A86P; 16:2053372-2053372	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1966G>T; p.E656*; 16:2071803-2071803	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.5333C>G; p.A1778G; 16:2088519-2088519	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Missense
c.4776G>A; p.V1592V; 16:2086306-2086306	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.400G>A; p.E134K; 16:2054359-2054359	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.669C>T; p.D223D; 16:2056664-2056664	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1491C>T; p.P497P; 16:2064319-2064319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1644G>T; p.R548S; 16:2065563-2065563	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.400G>A; p.E134K; 16:2054359-2054359	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.400G>A; p.E134K; 16:2054359-2054359	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1491C>T; p.P497P; 16:2064319-2064319	pancreas	NS	Substitution - coding silent
c.3658T>A; p.S1220T; 16:2081642-2081642	skin	malignant_melanoma	Substitution - Missense
c.1563A>T; p.T521T; 16:2064391-2064391	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3619A>G; p.S1207G; 16:2081603-2081603	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.600-1G>T; p.?; 16:2056195-2056195	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2366T>C; p.V789A; 16:2074210-2074210	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1513C>T; p.R505*; 16:2064341-2064341	lung	other; lymphangioleiomyomatosis	Substitution - Nonsense
c.1074G>A; p.W358*; 16:2060768-2060768	soft_tissue; blood_vessel	perivascular_epithelioid_cell_tumour_(PEComa)	Substitution - Nonsense
c.3153C>T; p.L1051L; 16:2079297-2079297	skin	malignant_melanoma	Substitution - coding silent
c.5161A>C; p.M1721L; 16:2088227-2088227	skin	malignant_melanoma	Substitution - Missense
c.722_723insTACC; p.L243fs*96; 16:2056717-2056718	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.2901G>A; p.K967K; 16:2077661-2077661	skin	malignant_melanoma	Substitution - coding silent
c.1661C>T; p.S554L; 16:2065580-2065580	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1600-2A>G; p.?; 16:2065517-2065517	skin	malignant_melanoma	Unknown
c.1600-2A>G; p.?; 16:2065517-2065517	liver	carcinoma	Unknown
c.3421G>A; p.A1141T; 16:2080188-2080188	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1600-2A>G; p.?; 16:2065517-2065517	liver	carcinoma	Unknown
c.3429C>T; p.D1143D; 16:2080196-2080196	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1658A>C; p.Y553S; 16:2065577-2065577	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4603G>A; p.D1535N; 16:2085263-2085263	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1502A>G; p.D501G; 16:2064330-2064330	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4178_4179delCT; p.L1394fs*19; 16:2084400-2084401	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.781C>T; p.R261W; 16:2057111-2057111	lung	other; lymphangioleiomyomatosis	Substitution - Missense
c.549G>T; p.L183F; 16:2055469-2055469	pancreas	carcinoma	Substitution - Missense
c.549G>T; p.L183F; 16:2055469-2055469	pancreas	carcinoma	Substitution - Missense
c.3132-1G>C; p.?; 16:2079275-2079275	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.4090_4091insT; p.S1364fs*50; 16:2084312-2084313	lung	other; lymphangioleiomyomatosis	Insertion - Frameshift
c.4090_4091insT; p.S1364fs*50; 16:2084312-2084313	lung	other; lymphangioleiomyomatosis	Insertion - Frameshift
c.4090_4091insT; p.S1364fs*50; 16:2084312-2084313	lung	other; lymphangioleiomyomatosis	Insertion - Frameshift
c.4090_4091insT; p.S1364fs*50; 16:2084312-2084313	lung	other; lymphangioleiomyomatosis	Insertion - Frameshift
c.955G>T; p.V319L; 16:2058853-2058853	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.487_488delTT; p.F163fs*25; 16:2055407-2055408	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.4090_4091insT; p.S1364fs*50; 16:2084312-2084313	lung	other; lymphangioleiomyomatosis	Insertion - Frameshift
c.3593T>C; p.L1198P; 16:2080360-2080360	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4824C>T; p.Y1608Y; 16:2086354-2086354	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.399C>T; p.N133N; 16:2054358-2054358	liver	carcinoma	Substitution - coding silent
c.399C>T; p.N133N; 16:2054358-2054358	liver	carcinoma	Substitution - coding silent
c.1136A>G; p.E379G; 16:2061887-2061887	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1106T>G; p.L369R; 16:2060800-2060800	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1366G>T; p.E456*; 16:2062976-2062976	liver	carcinoma	Substitution - Nonsense
c.2221C>A; p.L741I; 16:2072849-2072849	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.993C>T; p.N331N; 16:2060687-2060687	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1366G>T; p.E456*; 16:2062976-2062976	liver	carcinoma	Substitution - Nonsense
c.5127_5127delC; p.F1710fs*99; 16:2088106-2088106	lung	other; lymphangioleiomyomatosis	Deletion - Frameshift
c.600-5T>C; p.?; 16:2056191-2056191	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.5024C>T; p.P1675L; 16:2087897-2087897	lung	other; lymphangioleiomyomatosis	Substitution - Missense
c.4376G>A; p.R1459Q; 16:2084598-2084598	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5164G>C; p.A1722P; 16:2088230-2088230	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4481G>A; p.G1494D; 16:2084703-2084703	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2828G>A; p.R943K; 16:2076576-2076576	breast	carcinoma	Substitution - Missense
c.4481G>A; p.G1494D; 16:2084703-2084703	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1099C>T; p.R367W; 16:2060793-2060793	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1096G>T; p.E366*; 16:2060790-2060790	lung	other; lymphangioleiomyomatosis	Substitution - Nonsense
c.1096G>T; p.E366*; 16:2060790-2060790	kidney	other; angiomyolipoma	Substitution - Nonsense
c.3724A>G; p.K1242E; 16:2081708-2081708	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1754G>A; p.R585H; 16:2070493-2070493	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1754G>A; p.R585H; 16:2070493-2070493	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.721G>A; p.V241I; 16:2056716-2056716	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.89C>A; p.S30Y; 16:2048704-2048704	skin	malignant_melanoma	Substitution - Missense
c.2069_2069delT; p.F690fs*8; 16:2071906-2071906	lung	other; lymphangioleiomyomatosis	Deletion - Frameshift
c.2069_2069delT; p.F690fs*8; 16:2071906-2071906	lung	other; lymphangioleiomyomatosis	Deletion - Frameshift
c.2069_2069delT; p.F690fs*8; 16:2071906-2071906	lung	other; lymphangioleiomyomatosis	Deletion - Frameshift
c.2069_2069delT; p.F690fs*8; 16:2071906-2071906	lung	other; lymphangioleiomyomatosis	Deletion - Frameshift
c.2069_2069delT; p.F690fs*8; 16:2071906-2071906	lung	other; lymphangioleiomyomatosis	Deletion - Frameshift
c.2069_2069delT; p.F690fs*8; 16:2071906-2071906	lung	other; lymphangioleiomyomatosis	Deletion - Frameshift
c.2640-1G>A; p.?; 16:2076067-2076067	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.481+3G>A; p.?; 16:2054443-2054443	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.4358_4372>A; p.P1453fs*66; 16:2084580-2084594	kidney	other; angiomyolipoma	Complex - frameshift
c.3662C>T; p.S1221L; 16:2081646-2081646	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4612_4613CC>AT; p.P1538I; 16:2085272-2085273	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1837C>T; p.Q613*; 16:2070576-2070576	lung	other; lymphangioleiomyomatosis	Substitution - Nonsense
c.3021C>T; p.S1007S; 16:2079086-2079086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5135C>G; p.A1712G; 16:2088114-2088114	central_nervous_system; brain	glioma	Substitution - Missense
c.4908C>T; p.D1636D; 16:2086790-2086790	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.459_459delC; p.T154fs*28; 16:2054418-2054418	kidney	other; angiomyolipoma	Deletion - Frameshift
c.4227G>A; p.R1409R; 16:2084449-2084449	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3294_3294delC; p.V1100fs*3; 16:2079566-2079566	central_nervous_system; cerebral_cortex	other; tuberous_sclerosis_tuber	Deletion - Frameshift
c.653C>T; p.S218F; 16:2056648-2056648	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5202T>C; p.D1734D; 16:2088268-2088268	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3663G>A; p.S1221S; 16:2081647-2081647	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2152C>T; p.R718C; 16:2072295-2072295	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5138G>A; p.R1713H; 16:2088117-2088117	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1462G>A; p.V488M; 16:2064290-2064290	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.494_495insA; p.Q166fs*23; 16:2055414-2055415	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.5234G>A; p.R1745H; 16:2088300-2088300	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1460C>G; p.S487*; 16:2064288-2064288	liver	carcinoma	Substitution - Nonsense
c.3328G>A; p.A1110T; 16:2079600-2079600	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2431T>C; p.C811R; 16:2074275-2074275	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4822T>G; p.Y1608D; 16:2086352-2086352	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1460C>G; p.S487*; 16:2064288-2064288	liver	carcinoma	Substitution - Nonsense
c.201C>T; p.V67V; 16:2050462-2050462	skin	malignant_melanoma	Substitution - coding silent
c.1206G>A; p.G402G; 16:2061957-2061957	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.629C>T; p.A210V; 16:2056225-2056225	breast	carcinoma	Substitution - Missense
c.2004G>T; p.G668G; 16:2071841-2071841	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1186G>T; p.D396Y; 16:2061937-2061937	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3664G>T; p.D1222Y; 16:2081648-2081648	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.177G>T; p.R59R; 16:2050438-2050438	ovary	other; neoplasm	Substitution - coding silent
c.570C>G; p.Y190*; 16:2055490-2055490	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.3404A>G; p.H1135R; 16:2080171-2080171	skin	malignant_melanoma	Substitution - Missense
c.2167A>G; p.I723V; 16:2072310-2072310	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4498G>A; p.V1500M; 16:2084955-2084955	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2674G>A; p.V892I; 16:2076102-2076102	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.252G>A; p.A84A; 16:2053368-2053368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3412C>T; p.R1138*; 16:2080179-2080179	central_nervous_system; cerebral_cortex	other; tuberous_sclerosis_tuber	Substitution - Nonsense
c.384G>A; p.K128K; 16:2054343-2054343	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1101G>A; p.R367R; 16:2060795-2060795	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3641A>T; p.N1214I; 16:2081625-2081625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2655C>A; p.I885I; 16:2076083-2076083	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3577G>A; p.G1193S; 16:2080344-2080344	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.5238_5255del18; p.H1746_R1751del; 16:2088304-2088321	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.2035G>A; p.V679M; 16:2071872-2071872	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5238_5255del18; p.H1746_R1751del; 16:2088304-2088321	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.256G>A; p.A86T; 16:2053372-2053372	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5238_5255del18; p.H1746_R1751del; 16:2088304-2088321	kidney	other; angiomyolipoma	Deletion - In frame
c.256G>A; p.A86T; 16:2053372-2053372	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.522G>A; p.S174S; 16:2055442-2055442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4885G>A; p.D1629N; 16:2086767-2086767	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.256G>A; p.A86T; 16:2053372-2053372	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5185C>A; p.R1729S; 16:2088251-2088251	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5238_5255del18; p.H1746_R1751del; 16:2088304-2088321	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.474A>G; p.E158E; 16:2054433-2054433	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5238_5255del18; p.H1746_R1751del; 16:2088304-2088321	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.5238_5255del18; p.H1746_R1751del; 16:2088304-2088321	kidney	other; angiomyolipoma	Deletion - In frame
c.3662C>A; p.S1221*; 16:2081646-2081646	liver	carcinoma	Substitution - Nonsense
c.2710T>C; p.F904L; 16:2076138-2076138	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2701C>T; p.R901C; 16:2076129-2076129	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2714G>A; p.R905Q; 16:2076142-2076142	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5233C>T; p.R1745C; 16:2088299-2088299	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2701C>T; p.R901C; 16:2076129-2076129	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4370G>A; p.R1457Q; 16:2084592-2084592	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5233C>T; p.R1745C; 16:2088299-2088299	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5131G>A; p.V1711M; 16:2088110-2088110	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3662C>A; p.S1221*; 16:2081646-2081646	liver	carcinoma	Substitution - Nonsense
c.1554C>A; p.G518G; 16:2064382-2064382	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4092C>T; p.S1364S; 16:2084314-2084314	skin	malignant_melanoma	Substitution - coding silent
c.2641T>A; p.F881I; 16:2076069-2076069	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.778A>G; p.M260V; 16:2057108-2057108	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2061_2073del13; p.L688fs*6; 16:2071898-2071910	kidney	other; angiomyolipoma	Deletion - Frameshift
c.2061_2073del13; p.L688fs*6; 16:2071898-2071910	lung	other; lymphangioleiomyomatosis	Deletion - Frameshift
c.2027G>C; p.G676A; 16:2071864-2071864	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2027G>C; p.G676A; 16:2071864-2071864	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2027G>C; p.G676A; 16:2071864-2071864	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5072T>C; p.M1691T; 16:2088051-2088051	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2027G>C; p.G676A; 16:2071864-2071864	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2027G>C; p.G676A; 16:2071864-2071864	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.888_889insT; p.V299fs*39; 16:2058786-2058787	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.2465C>T; p.A822V; 16:2074309-2074309	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.187C>T; p.Q63*; 16:2050448-2050448	liver	carcinoma	Substitution - Nonsense
c.1156G>A; p.D386N; 16:2061907-2061907	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1284C>T; p.S428S; 16:2062523-2062523	skin	malignant_melanoma	Substitution - coding silent
c.1169C>A; p.T390K; 16:2061920-2061920	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2454C>A; p.I818I; 16:2074298-2074298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.468G>A; p.L156L; 16:2054427-2054427	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1503C>A; p.D501E; 16:2064331-2064331	liver	carcinoma	Substitution - Missense
c.3542C>T; p.T1181M; 16:2080309-2080309	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4912A>T; p.K1638*; 16:2086794-2086794	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.4912A>T; p.K1638*; 16:2086794-2086794	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.4912A>T; p.K1638*; 16:2086794-2086794	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.4912A>T; p.K1638*; 16:2086794-2086794	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.4912A>T; p.K1638*; 16:2086794-2086794	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1503C>A; p.D501E; 16:2064331-2064331	liver	carcinoma	Substitution - Missense
c.2303C>T; p.P768L; 16:2072931-2072931	skin	malignant_melanoma	Substitution - Missense
c.2611A>C; p.I871L; 16:2075864-2075864	skin	malignant_melanoma	Substitution - Missense
c.2106C>A; p.D702E; 16:2072249-2072249	breast	carcinoma	Substitution - Missense
c.1882C>T; p.R628C; 16:2071552-2071552	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3168G>A; p.R1056R; 16:2079312-2079312	skin	malignant_melanoma	Substitution - coding silent
c.2080C>T; p.L694L; 16:2071917-2071917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2207C>T; p.A736V; 16:2072350-2072350	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4677C>A; p.L1559L; 16:2086207-2086207	prostate	carcinoma	Substitution - coding silent
c.3646C>A; p.L1216I; 16:2081630-2081630	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3646C>A; p.L1216I; 16:2081630-2081630	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.667G>A; p.D223N; 16:2056662-2056662	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2513G>A; p.S838N; 16:2074357-2074357	pancreas	carcinoma	Substitution - Missense
c.3867G>A; p.R1289R; 16:2082488-2082488	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1415T>C; p.V472A; 16:2063025-2063025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5159A>G; p.N1720S; 16:2088138-2088138	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2979G>A; p.T993T; 16:2079044-2079044	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.170G>A; p.R57H; 16:2050431-2050431	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.5141A>G; p.Q1714R; 16:2088120-2088120	liver	carcinoma	Substitution - Missense
c.170G>A; p.R57H; 16:2050431-2050431	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5141A>G; p.Q1714R; 16:2088120-2088120	liver	carcinoma	Substitution - Missense
c.1415T>C; p.V472A; 16:2063025-2063025	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.630G>A; p.A210A; 16:2056226-2056226	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.630G>A; p.A210A; 16:2056226-2056226	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4571C>T; p.S1524L; 16:2085231-2085231	breast	carcinoma	Substitution - Missense
c.1241G>A; p.C414Y; 16:2061992-2061992	liver	carcinoma	Substitution - Missense
c.2871G>T; p.L957F; 16:2077631-2077631	liver	carcinoma	Substitution - Missense
c.1241G>A; p.C414Y; 16:2061992-2061992	liver	carcinoma	Substitution - Missense
c.5346C>T; p.A1782A; 16:2088532-2088532	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2249_2250insC; p.R751fs*11; 16:2072877-2072878	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.4434C>T; p.D1478D; 16:2084656-2084656	breast	carcinoma	Substitution - coding silent
c.344G>A; p.R115H; 16:2054303-2054303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.344G>A; p.R115H; 16:2054303-2054303	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3409C>T; p.L1137F; 16:2080176-2080176	skin	malignant_melanoma	Substitution - Missense
c.3164G>A; p.G1055D; 16:2079308-2079308	ovary	carcinoma	Substitution - Missense
c.3867G>T; p.R1289S; 16:2082488-2082488	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1439A>G; p.Y480C; 16:2063049-2063049	liver	carcinoma	Substitution - Missense
c.1819G>A; p.A607T; 16:2070558-2070558	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1439A>G; p.Y480C; 16:2063049-2063049	liver	carcinoma	Substitution - Missense
c.1842C>T; p.A614A; 16:2071512-2071512	skin	malignant_melanoma	Substitution - coding silent
c.789_806del18; p.L264_G269del; 16:2057119-2057136	lung	other; lymphangioleiomyomatosis	Deletion - In frame
c.4292C>T; p.S1431L; 16:2084514-2084514	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3054C>T; p.L1018L; 16:2079119-2079119	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.410A>G; p.H137R; 16:2054369-2054369	parathyroid	adenoma	Substitution - Missense
c.4292C>T; p.S1431L; 16:2084514-2084514	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4091C>T; p.S1364F; 16:2084313-2084313	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5002T>G; p.F1668V; 16:2087875-2087875	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3337G>T; p.E1113*; 16:2079609-2079609	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2334C>T; p.N778N; 16:2072962-2072962	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2615C>T; p.S872F; 16:2075868-2075868	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4223G>T; p.G1408V; 16:2084445-2084445	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.491T>G; p.V164G; 16:2055411-2055411	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4916G>A; p.R1639H; 16:2086798-2086798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.610C>G; p.L204V; 16:2056206-2056206	breast	carcinoma	Substitution - Missense
c.4136C>T; p.S1379L; 16:2084358-2084358	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4136C>T; p.S1379L; 16:2084358-2084358	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1108C>T; p.Q370*; 16:2060802-2060802	lung	other; lymphangioleiomyomatosis	Substitution - Nonsense
c.1108C>T; p.Q370*; 16:2060802-2060802	lung	other; lymphangioleiomyomatosis	Substitution - Nonsense
c.4812C>A; p.G1604G; 16:2086342-2086342	breast	carcinoma	Substitution - coding silent
c.2072G>A; p.R691H; 16:2071909-2071909	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2173A>T; p.T725S; 16:2072316-2072316	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5251C>T; p.R1751C; 16:2088317-2088317	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3563C>T; p.P1188L; 16:2080330-2080330	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.3117G>C; p.T1039T; 16:2079182-2079182	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4493G>A; p.S1498N; 16:2084715-2084715	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.292C>T; p.R98W; 16:2053408-2053408	pancreas	carcinoma	Substitution - Missense
c.4298C>A; p.S1433*; 16:2084520-2084520	liver	carcinoma	Substitution - Nonsense
c.5107G>A; p.V1703M; 16:2088086-2088086	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3616A>G; p.T1206A; 16:2081600-2081600	skin	malignant_melanoma	Substitution - Missense
c.4298C>A; p.S1433*; 16:2084520-2084520	liver	carcinoma	Substitution - Nonsense
c.2743G>A; p.G915S; 16:2076491-2076491	liver	carcinoma	Substitution - Missense
c.1519C>T; p.L507L; 16:2064347-2064347	pancreas	carcinoma	Substitution - coding silent
c.5130C>T; p.F1710F; 16:2088109-2088109	skin	malignant_melanoma	Substitution - coding silent
c.3167_3167delG; p.T1057fs*13; 16:2079311-2079311	lung	other; lymphangioleiomyomatosis	Deletion - Frameshift
c.1864C>T; p.R622W; 16:2071534-2071534	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1864C>T; p.R622W; 16:2071534-2071534	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5130C>T; p.F1710F; 16:2088109-2088109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3087G>T; p.M1029I; 16:2079152-2079152	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4393G>A; p.D1465N; 16:2084615-2084615	pancreas	carcinoma	Substitution - Missense
c.4541C>G; p.S1514*; 16:2084998-2084998	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.528C>T; p.F176F; 16:2055448-2055448	skin	malignant_melanoma	Substitution - coding silent
c.3231_3232CC>TT; p.R1078W; 16:2079375-2079376	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.529_532delCTTC; p.L177fs*4; 16:2055449-2055452	lung	other; lymphangioleiomyomatosis	Deletion - Frameshift
c.529_532delCTTC; p.L177fs*4; 16:2055449-2055452	kidney	other; angiomyolipoma	Deletion - Frameshift
c.1610G>A; p.R537H; 16:2065529-2065529	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2115G>A; p.V705V; 16:2072258-2072258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1062G>T; p.Q354H; 16:2060756-2060756	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2221-1G>A; p.?; 16:2072848-2072848	kidney	carcinoma; papillary_renal_cell_carcinoma	Unknown
c.1590C>T; p.I530I; 16:2064418-2064418	skin	malignant_melanoma	Substitution - coding silent
c.2728_2729CC>TT; p.P910F; 16:2076156-2076157	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1564C>T; p.H522Y; 16:2064392-2064392	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4296C>G; p.A1432A; 16:2084518-2084518	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1564C>T; p.H522Y; 16:2064392-2064392	central_nervous_system; cerebral_cortex	other; tuberous_sclerosis_tuber	Substitution - Missense
c.654C>A; p.S218S; 16:2056649-2056649	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2221-1G>A; p.?; 16:2072848-2072848	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1025T>C; p.I342T; 16:2060719-2060719	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.5393C>T; p.S1798F; 16:2088579-2088579	skin	malignant_melanoma	Substitution - Missense
c.3610+1G>A; p.?; 16:2080378-2080378	lung	other; lymphangioleiomyomatosis	Unknown
c.5178_5179insTGCA; p.H1727fs*3; 16:2088244-2088245	lung	other; lymphangioleiomyomatosis	Insertion - Frameshift
c.2180C>A; p.P727H; 16:2072323-2072323	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.230C>T; p.A77V; 16:2053346-2053346	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2884_2885CC>TT; p.P962F; 16:2077644-2077645	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2933G>A; p.R978H; 16:2077693-2077693	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.175C>T; p.R59W; 16:2050436-2050436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.134T>A; p.L45Q; 16:2048749-2048749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5167_5168insTA; p.S1723fs*>86; 16:2088233-2088234	liver	carcinoma	Insertion - Frameshift
c.4630delA; p.K1544fs*32; 16:2085290-2085290	liver	carcinoma	Deletion - Frameshift
c.4356G>A; p.S1452S; 16:2084578-2084578	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4565A>T; p.N1522I; 16:2085022-2085022	pancreas	carcinoma	Substitution - Missense
c.4051G>T; p.E1351*; 16:2084273-2084273	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1716G>T; p.Q572H; 16:2065635-2065635	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2742+1G>A; p.?; 16:2076171-2076171	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Unknown
c.4239G>C; p.E1413D; 16:2084461-2084461	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.4439_4440insA; p.S1482fs*42; 16:2084661-2084662	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.4822T>A; p.Y1608N; 16:2086352-2086352	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.682_715del34; p.Y228fs*21; 16:2056677-2056710	kidney	other; angiomyolipoma	Deletion - Frameshift
c.4497C>T; p.F1499F; 16:2084954-2084954	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1923C>A; p.S641R; 16:2071593-2071593	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1922G>A; p.S641N; 16:2071592-2071592	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4750_4750delC; p.L1584fs*1; 16:2086280-2086280	kidney	other; angiomyolipoma	Deletion - Frameshift
c.3978G>A; p.M1326I; 16:2083789-2083789	skin	malignant_melanoma	Substitution - Missense
c.4167C>A; p.P1389P; 16:2084389-2084389	liver	carcinoma	Substitution - coding silent
c.4533C>T; p.G1511G; 16:2084990-2084990	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4167C>A; p.P1389P; 16:2084389-2084389	liver	carcinoma	Substitution - coding silent
c.1642A>G; p.R548G; 16:2065561-2065561	liver	carcinoma	Substitution - Missense
c.4938_4939delGT; p.S1647fs*5; 16:2086820-2086821	kidney	other; angiomyolipoma	Deletion - Frameshift
c.5269G>A; p.E1757K; 16:2088455-2088455	skin	malignant_melanoma	Substitution - Missense
c.4082G>A; p.R1361Q; 16:2084304-2084304	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1642A>G; p.R548G; 16:2065561-2065561	liver	carcinoma	Substitution - Missense
c.3237G>A; p.S1079S; 16:2079381-2079381	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.619G>A; p.V207I; 16:2056215-2056215	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4872G>T; p.L1624L; 16:2086754-2086754	thyroid	other; neoplasm	Substitution - coding silent
c.3984G>A; p.R1328R; 16:2083795-2083795	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3094C>T; p.R1032*; 16:2079159-2079159	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.716_718delTCA; p.I240delI; 16:2056711-2056713	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.673G>A; p.V225M; 16:2056668-2056668	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3684G>A; p.L1228L; 16:2081668-2081668	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5117G>A; p.R1706H; 16:2088096-2088096	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3995C>T; p.A1332V; 16:2083806-2083806	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.734G>C; p.R245P; 16:2056729-2056729	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5155G>A; p.A1719T; 16:2088134-2088134	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.5155G>A; p.A1719T; 16:2088134-2088134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3995C>T; p.A1332V; 16:2083806-2083806	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3397+2T>G; p.?; 16:2079671-2079671	ovary	other; neoplasm	Unknown
c.4281T>G; p.S1427R; 16:2084503-2084503	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2291T>A; p.L764Q; 16:2072919-2072919	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2386C>T; p.L796F; 16:2074230-2074230	skin	malignant_melanoma	Substitution - Missense
c.2917G>A; p.E973K; 16:2077677-2077677	liver	carcinoma	Substitution - Missense
c.4169A>G; p.E1390G; 16:2084391-2084391	liver	carcinoma	Substitution - Missense
c.1947-4_2030del88; p.?; 16:2071784-2071867	lung	other; lymphangioleiomyomatosis	Unknown
c.2355+1G>T; p.?; 16:2072984-2072984	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.785_795del11; p.L263fs*71; 16:2057115-2057125	liver	carcinoma	Deletion - Frameshift
c.226-8G>A; p.?; 16:2053334-2053334	liver	carcinoma	Unknown
c.5371G>A; p.G1791S; 16:2088557-2088557	NS	malignant_melanoma	Substitution - Missense
c.226-8G>A; p.?; 16:2053334-2053334	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1716+1G>T; p.?; 16:2065636-2065636	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.139G>A; p.E47K; 16:2050400-2050400	skin	malignant_melanoma	Substitution - Missense
c.1143G>A; p.R381R; 16:2061894-2061894	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4313G>A; p.R1438Q; 16:2084535-2084535	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.853T>C; p.Y285H; 16:2058751-2058751	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1143G>A; p.R381R; 16:2061894-2061894	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.139G>A; p.E47K; 16:2050400-2050400	skin	malignant_melanoma	Substitution - Missense
c.853T>C; p.Y285H; 16:2058751-2058751	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.741C>T; p.I247I; 16:2056736-2056736	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1414G>A; p.V472M; 16:2063024-2063024	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.504G>A; p.M168I; 16:2055424-2055424	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2529G>A; p.L843L; 16:2074373-2074373	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1414G>A; p.V472M; 16:2063024-2063024	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.866C>T; p.A289V; 16:2058764-2058764	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4959C>A; p.S1653S; 16:2086841-2086841	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.4900C>T; p.R1634C; 16:2086782-2086782	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1273A>T; p.N425Y; 16:2062512-2062512	breast	carcinoma	Substitution - Missense
c.2807G>A; p.R936Q; 16:2076555-2076555	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1743C>T; p.S581S; 16:2070482-2070482	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.932C>T; p.S311F; 16:2058830-2058830	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1210C>T; p.Q404*; 16:2061961-2061961	kidney	other; angiomyolipoma	Substitution - Nonsense
c.2008C>T; p.P670S; 16:2071845-2071845	skin; extremity	malignant_melanoma	Substitution - Missense
c.3093T>A; p.A1031A; 16:2079158-2079158	liver	carcinoma	Substitution - coding silent
c.3093T>A; p.A1031A; 16:2079158-2079158	liver	carcinoma	Substitution - coding silent
c.3532C>T; p.Q1178*; 16:2080299-2080299	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Nonsense
c.2844G>A; p.R948R; 16:2077604-2077604	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3093T>A; p.A1031A; 16:2079158-2079158	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.864C>T; p.D288D; 16:2058762-2058762	breast	carcinoma	Substitution - coding silent
c.3532C>T; p.Q1178*; 16:2080299-2080299	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Nonsense
c.50T>A; p.I17N; 16:2048665-2048665	NS	malignant_melanoma	Substitution - Missense
c.500G>A; p.W167*; 16:2055420-2055420	liver	carcinoma	Substitution - Nonsense
c.500G>A; p.W167*; 16:2055420-2055420	liver	carcinoma	Substitution - Nonsense
c.2352A>C; p.K784N; 16:2072980-2072980	central_nervous_system; brain	glioma	Substitution - Missense
c.3219G>T; p.V1073V; 16:2079363-2079363	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2692A>T; p.I898F; 16:2076120-2076120	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3069G>A; p.T1023T; 16:2079134-2079134	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5215A>C; p.K1739Q; 16:2088281-2088281	skin; extremity	malignant_melanoma	Substitution - Missense
c.1624delC; p.P543fs*18; 16:2065543-2065543	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4681_4682delAT; p.I1561fs*4; 16:2086211-2086212	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.767G>A; p.C256Y; 16:2056762-2056762	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1832G>A; p.R611Q; 16:2070571-2070571	lung	other; lymphangioleiomyomatosis	Substitution - Missense
c.3285-2A>T; p.?; 16:2079555-2079555	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1832G>A; p.R611Q; 16:2070571-2070571	kidney	other; angiomyolipoma	Substitution - Missense
c.1832G>A; p.R611Q; 16:2070571-2070571	kidney	other; angiomyolipoma	Substitution - Missense
c.4398G>A; p.S1466S; 16:2084620-2084620	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.690C>A; p.C230*; 16:2056685-2056685	prostate	adenoma	Substitution - Nonsense
c.4398G>A; p.S1466S; 16:2084620-2084620	ovary	other; neoplasm	Substitution - coding silent
c.5388C>G; p.L1796L; 16:2088574-2088574	ovary	other; neoplasm	Substitution - coding silent
c.2522T>C; p.V841A; 16:2074366-2074366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4067G>T; p.G1356V; 16:2084289-2084289	prostate	carcinoma	Substitution - Missense
c.838A>G; p.M280V; 16:2057168-2057168	liver	carcinoma	Substitution - Missense
c.5368G>A; p.V1790M; 16:2088554-2088554	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.838A>G; p.M280V; 16:2057168-2057168	liver	carcinoma	Substitution - Missense
c.4561C>A; p.P1521T; 16:2085018-2085018	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5345C>T; p.A1782V; 16:2088531-2088531	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1983delC; p.L663fs*35; 16:2071820-2071820	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4180C>T; p.L1394L; 16:2084402-2084402	breast	carcinoma	Substitution - coding silent
c.4767G>T; p.P1589P; 16:2086297-2086297	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - coding silent
c.3254C>T; p.S1085L; 16:2079398-2079398	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4909_4911delAAG; p.K1638delK; 16:2086791-2086793	liver	carcinoma	Deletion - In frame
c.1254G>T; p.R418S; 16:2062005-2062005	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2413G>A; p.V805I; 16:2074257-2074257	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4375C>T; p.R1459*; 16:2084597-2084597	breast	carcinoma	Substitution - Nonsense
c.4044C>A; p.H1348Q; 16:2084266-2084266	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1804T>C; p.Y602H; 16:2070543-2070543	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1014C>T; p.I338I; 16:2060708-2060708	skin	malignant_melanoma	Substitution - coding silent

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]