Entrez Gene

Basic Information
Gene ID	7249
Name	TSC2

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
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

The somatic mutations from COSMIC database