Entrez Gene

Basic Information
Gene ID	9703
Name	KIAA0100
Synonymous	KIAA0100;KIAA0100;KIAA0100
Definition	U937-associated antigen\|antigen MLAA-22\|breast cancer overexpressed gene 1\|breast cancer-overexpressed gene 1 protein\|cancer/testis antigen 101\|protein KIAA0100
Position	17q11.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1463A>G; p.N488S; 17:28638301-28638301	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2343T>C; p.S781S; 17:28635244-28635244	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4768G>T; p.A1590S; 17:28623951-28623951	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5227C>A; p.L1743I; 17:28621003-28621003	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.387C>A; p.I129I; 17:28643173-28643173	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3726_3727GC>AT; p.L1243F; 17:28633020-28633021	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1278C>T; p.S426S; 17:28638594-28638594	breast	carcinoma	Substitution - coding silent
c.2553A>G; p.L851L; 17:28635034-28635034	liver	carcinoma	Substitution - coding silent
c.1059C>G; p.L353L; 17:28639599-28639599	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2553A>G; p.L851L; 17:28635034-28635034	liver	carcinoma	Substitution - coding silent
c.6158-6delT; p.?; 17:28616515-28616515	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.6098G>A; p.R2033Q; 17:28616677-28616677	pancreas	carcinoma	Substitution - Missense
c.6098G>A; p.R2033Q; 17:28616677-28616677	pancreas	carcinoma	Substitution - Missense
c.6098G>A; p.R2033Q; 17:28616677-28616677	pancreas	carcinoma	Substitution - Missense
c.1947C>T; p.I649I; 17:28636995-28636995	breast	carcinoma	Substitution - coding silent
c.1739A>G; p.D580G; 17:28637868-28637868	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2137_2139delTCT; p.S713delS; 17:28635448-28635450	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - In frame
c.2179C>T; p.R727W; 17:28635408-28635408	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5218G>A; p.E1740K; 17:28621012-28621012	skin; trunk	malignant_melanoma	Substitution - Missense
c.955_956insC; p.L319fs*9; 17:28639960-28639961	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2802C>T; p.L934L; 17:28634785-28634785	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1633A>T; p.I545F; 17:28637974-28637974	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.4114C>T; p.R1372C; 17:28631664-28631664	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4960-2A>G; p.?; 17:28621500-28621500	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.2414C>T; p.P805L; 17:28635173-28635173	skin	malignant_melanoma	Substitution - Missense
c.5688G>T; p.L1896L; 17:28618926-28618926	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2349C>G; p.F783L; 17:28635238-28635238	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.6674C>G; p.P2225R; 17:28615098-28615098	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2304A>G; p.A768A; 17:28635283-28635283	liver	carcinoma	Substitution - coding silent
c.2304A>G; p.A768A; 17:28635283-28635283	liver	carcinoma	Substitution - coding silent
c.6097C>G; p.R2033G; 17:28616678-28616678	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.563A>T; p.K188M; 17:28642288-28642288	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.652A>G; p.T218A; 17:28642003-28642003	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5320G>T; p.D1774Y; 17:28620553-28620553	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6499G>T; p.D2167Y; 17:28615690-28615690	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1895G>A; p.C632Y; 17:28637047-28637047	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.364T>G; p.F122V; 17:28643196-28643196	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5397C>T; p.F1799F; 17:28619983-28619983	skin	malignant_melanoma	Substitution - coding silent
c.2878C>T; p.R960C; 17:28634709-28634709	liver	carcinoma	Substitution - Missense
c.3828G>A; p.L1276L; 17:28632217-28632217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5288C>T; p.S1763F; 17:28620585-28620585	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1465A>G; p.M489V; 17:28638299-28638299	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1237C>T; p.P413S; 17:28638635-28638635	skin; acral	malignant_melanoma	Substitution - Missense
c.958C>T; p.R320*; 17:28639958-28639958	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2930C>T; p.A977V; 17:28634657-28634657	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1920A>G; p.P640P; 17:28637022-28637022	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.569G>T; p.G190V; 17:28642282-28642282	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6511G>A; p.A2171T; 17:28615678-28615678	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6030G>A; p.V2010V; 17:28616745-28616745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2443C>T; p.R815C; 17:28635144-28635144	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3821G>A; p.R1274Q; 17:28632224-28632224	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5178T>G; p.T1726T; 17:28621052-28621052	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2332G>A; p.D778N; 17:28635255-28635255	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2153G>A; p.R718H; 17:28635434-28635434	lung	carcinoma	Substitution - Missense
c.2153G>A; p.R718H; 17:28635434-28635434	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3000delT; p.P1002fs*4; 17:28634587-28634587	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1284C>G; p.V428V; 17:28638588-28638588	breast	carcinoma	Substitution - coding silent
c.4987C>T; p.R1663C; 17:28621471-28621471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2474C>T; p.S825L; 17:28635113-28635113	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1053C>G; p.V351V; 17:28639605-28639605	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2639T>C; p.V880A; 17:28634948-28634948	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1994G>A; p.G665E; 17:28635593-28635593	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4594G>T; p.G1532C; 17:28628265-28628265	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4363C>T; p.R1455W; 17:28628496-28628496	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.3777C>G; p.I1259M; 17:28632970-28632970	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1583G>C; p.R528P; 17:28638024-28638024	urinary_tract; bladder	carcinoma	Substitution - Missense
c.846G>A; p.K282K; 17:28640604-28640604	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2174C>T; p.P725L; 17:28635413-28635413	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1930C>A; p.L644I; 17:28637012-28637012	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2174C>T; p.P725L; 17:28635413-28635413	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6002C>T; p.S2001F; 17:28616908-28616908	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5765_5766delAG; p.E1922fs*9; 17:28618848-28618849	eye; uveal_tract	malignant_melanoma; spindle	Deletion - Frameshift
c.199-10A>C; p.?; 17:28643669-28643669	pancreas	carcinoma	Unknown
c.6333G>A; p.M2111I; 17:28616153-28616153	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3173G>A; p.R1058Q; 17:28633984-28633984	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3691G>T; p.A1231S; 17:28633056-28633056	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5515A>G; p.M1839V; 17:28619865-28619865	liver	carcinoma	Substitution - Missense
c.2159C>A; p.P720H; 17:28635428-28635428	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5515A>G; p.M1839V; 17:28619865-28619865	liver	carcinoma	Substitution - Missense
c.2520G>T; p.E840D; 17:28635067-28635067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5194G>C; p.E1732Q; 17:28621036-28621036	ovary	other; neoplasm	Substitution - Missense
c.411T>G; p.H137Q; 17:28642973-28642973	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.5114C>T; p.S1705L; 17:28621116-28621116	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2623G>A; p.E875K; 17:28634964-28634964	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4721G>A; p.R1574Q; 17:28624264-28624264	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1003C>A; p.L335M; 17:28639913-28639913	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.661A>G; p.T221A; 17:28641994-28641994	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.576+2T>C; p.?; 17:28642273-28642273	skin	malignant_melanoma	Unknown
c.2532T>C; p.V844V; 17:28635055-28635055	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4200G>T; p.E1400D; 17:28631578-28631578	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2690_2692delTGA; p.M897delM; 17:28634895-28634897	breast	carcinoma	Deletion - In frame
c.883C>T; p.Q295*; 17:28640567-28640567	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4124C>T; p.S1375F; 17:28631654-28631654	skin	malignant_melanoma	Substitution - Missense
c.697G>T; p.E233*; 17:28641958-28641958	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3675T>C; p.H1225H; 17:28633072-28633072	breast	carcinoma	Substitution - coding silent
c.281G>A; p.R94H; 17:28643279-28643279	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1708T>A; p.L570I; 17:28637899-28637899	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1437C>G; p.H479Q; 17:28638327-28638327	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2748C>T; p.A916A; 17:28634839-28634839	liver	carcinoma	Substitution - coding silent
c.3081G>A; p.R1027R; 17:28634076-28634076	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2748C>T; p.A916A; 17:28634839-28634839	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.5920C>T; p.R1974W; 17:28616990-28616990	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4442G>A; p.R1481H; 17:28628417-28628417	breast	carcinoma	Substitution - Missense
c.5143A>C; p.S1715R; 17:28621087-28621087	liver	carcinoma	Substitution - Missense
c.76G>A; p.V26M; 17:28644180-28644180	skin; trunk	malignant_melanoma	Substitution - Missense
c.6341C>T; p.S2114F; 17:28616145-28616145	skin	malignant_melanoma	Substitution - Missense
c.1198A>C; p.S400R; 17:28639346-28639346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1667C>A; p.S556*; 17:28637940-28637940	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.4183G>T; p.A1395S; 17:28631595-28631595	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.5507A>T; p.Y1836F; 17:28619873-28619873	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4444A>C; p.N1482H; 17:28628415-28628415	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4636T>A; p.F1546I; 17:28624349-28624349	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5045T>C; p.V1682A; 17:28621413-28621413	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1206T>C; p.P402P; 17:28639338-28639338	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2129G>A; p.G710E; 17:28635458-28635458	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4276C>T; p.H1426Y; 17:28631502-28631502	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1448C>A; p.A483E; 17:28638316-28638316	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6301G>A; p.D2101N; 17:28616185-28616185	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5750G>A; p.R1917Q; 17:28618864-28618864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5828A>G; p.N1943S; 17:28617314-28617314	liver	carcinoma	Substitution - Missense
c.5828A>G; p.N1943S; 17:28617314-28617314	liver	carcinoma	Substitution - Missense
c.6476A>T; p.D2159V; 17:28615713-28615713	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1044A>G; p.Q348Q; 17:28639614-28639614	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3581C>T; p.S1194F; 17:28633286-28633286	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3709G>C; p.E1237Q; 17:28633038-28633038	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1015+1G>T; p.?; 17:28639900-28639900	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Unknown
c.1015+1G>T; p.?; 17:28639900-28639900	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Unknown
c.1015+1G>T; p.?; 17:28639900-28639900	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Unknown
c.753T>G; p.P251P; 17:28641902-28641902	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1866A>G; p.K622K; 17:28637076-28637076	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5910+1G>A; p.?; 17:28617231-28617231	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.764C>T; p.S255L; 17:28641891-28641891	skin	malignant_melanoma	Substitution - Missense
c.3213G>T; p.V1071V; 17:28633944-28633944	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1390G>A; p.V464I; 17:28638374-28638374	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2795A>G; p.E932G; 17:28634792-28634792	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4762C>T; p.R1588C; 17:28623957-28623957	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3765C>T; p.L1255L; 17:28632982-28632982	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6586G>A; p.E2196K; 17:28615186-28615186	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4762C>T; p.R1588C; 17:28623957-28623957	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5537G>A; p.S1846N; 17:28619759-28619759	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1669G>A; p.A557T; 17:28637938-28637938	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4223C>T; p.P1408L; 17:28631555-28631555	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1610C>T; p.T537I; 17:28637997-28637997	pancreas	carcinoma	Substitution - Missense
c.2152C>T; p.R718C; 17:28635435-28635435	skin	malignant_melanoma	Substitution - Missense
c.5760G>C; p.L1920L; 17:28618854-28618854	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3387G>A; p.W1129*; 17:28633627-28633627	prostate	adenoma	Substitution - Nonsense
c.285C>G; p.I95M; 17:28643275-28643275	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2643C>A; p.F881L; 17:28634944-28634944	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3180G>C; p.Q1060H; 17:28633977-28633977	skin	malignant_melanoma	Substitution - Missense
c.5779C>A; p.L1927M; 17:28618835-28618835	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1071G>C; p.K357N; 17:28639587-28639587	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2800C>A; p.L934I; 17:28634787-28634787	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2849C>T; p.S950F; 17:28634738-28634738	skin	malignant_melanoma	Substitution - Missense
c.2544G>A; p.L848L; 17:28635043-28635043	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2465G>A; p.G822D; 17:28635122-28635122	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3039A>G; p.R1013R; 17:28634548-28634548	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.354G>T; p.K118N; 17:28643206-28643206	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5263C>T; p.L1755F; 17:28620610-28620610	skin	malignant_melanoma	Substitution - Missense
c.111G>T; p.K37N; 17:28644145-28644145	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1441C>T; p.Q481*; 17:28638323-28638323	skin	malignant_melanoma	Substitution - Nonsense
c.2940C>T; p.S980S; 17:28634647-28634647	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1037G>A; p.S346N; 17:28639621-28639621	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1295T>G; p.I432S; 17:28638577-28638577	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4720C>T; p.R1574*; 17:28624265-28624265	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6391-1G>T; p.?; 17:28615799-28615799	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.5147A>G; p.Y1716C; 17:28621083-28621083	liver	carcinoma	Substitution - Missense
c.5008G>C; p.E1670Q; 17:28621450-28621450	breast	carcinoma	Substitution - Missense
c.6323G>T; p.R2108L; 17:28616163-28616163	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4009G>A; p.A1337T; 17:28631907-28631907	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2876T>G; p.M959R; 17:28634711-28634711	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2360A>T; p.E787V; 17:28635227-28635227	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1784T>C; p.V595A; 17:28637158-28637158	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3038G>A; p.R1013Q; 17:28634549-28634549	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3038G>A; p.R1013Q; 17:28634549-28634549	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6435G>T; p.L2145L; 17:28615754-28615754	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.899C>T; p.T300I; 17:28640017-28640017	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2818C>T; p.R940C; 17:28634769-28634769	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2818C>T; p.R940C; 17:28634769-28634769	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.564G>A; p.K188K; 17:28642287-28642287	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.6321G>A; p.E2107E; 17:28616165-28616165	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3496T>G; p.W1166G; 17:28633371-28633371	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5942C>T; p.S1981F; 17:28616968-28616968	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5984C>T; p.P1995L; 17:28616926-28616926	skin	malignant_melanoma	Substitution - Missense
c.955C>T; p.L319F; 17:28639961-28639961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1715G>T; p.W572L; 17:28637892-28637892	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2413_2414CC>TT; p.P805F; 17:28635173-28635174	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4300G>T; p.E1434*; 17:28628559-28628559	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4111C>T; p.R1371W; 17:28631667-28631667	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2003T>A; p.L668*; 17:28635584-28635584	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3264G>A; p.S1088S; 17:28633750-28633750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3264G>A; p.S1088S; 17:28633750-28633750	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4370C>T; p.S1457F; 17:28628489-28628489	skin	malignant_melanoma	Substitution - Missense
c.4370C>T; p.S1457F; 17:28628489-28628489	skin	malignant_melanoma	Substitution - Missense
c.5464C>T; p.R1822W; 17:28619916-28619916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.787G>A; p.E263K; 17:28640663-28640663	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1514G>A; p.G505D; 17:28638093-28638093	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5456A>C; p.E1819A; 17:28619924-28619924	liver	carcinoma	Substitution - Missense
c.291G>A; p.T97T; 17:28643269-28643269	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4162C>T; p.Q1388*; 17:28631616-28631616	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.5456A>C; p.E1819A; 17:28619924-28619924	liver	carcinoma	Substitution - Missense
c.2468C>T; p.S823L; 17:28635119-28635119	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2432C>T; p.T811I; 17:28635155-28635155	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5690G>A; p.R1897Q; 17:28618924-28618924	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4794G>A; p.V1598V; 17:28623925-28623925	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.355G>T; p.E119*; 17:28643205-28643205	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.775G>A; p.E259K; 17:28640675-28640675	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5805G>C; p.Q1935H; 17:28618809-28618809	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4033A>T; p.I1345F; 17:28631883-28631883	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4981C>T; p.R1661W; 17:28621477-28621477	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.6554C>G; p.S2185C; 17:28615218-28615218	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5323A>T; p.I1775F; 17:28620550-28620550	skin	malignant_melanoma	Substitution - Missense
c.3515C>T; p.S1172F; 17:28633352-28633352	skin	malignant_melanoma	Substitution - Missense
c.3515C>T; p.S1172F; 17:28633352-28633352	skin	malignant_melanoma	Substitution - Missense
c.2599C>T; p.P867S; 17:28634988-28634988	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1561C>T; p.L521F; 17:28638046-28638046	skin	malignant_melanoma	Substitution - Missense
c.6535G>C; p.E2179Q; 17:28615237-28615237	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2599C>T; p.P867S; 17:28634988-28634988	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.6157+2T>G; p.?; 17:28616616-28616616	breast	carcinoma	Unknown
c.5623G>T; p.E1875*; 17:28619673-28619673	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.397-1G>T; p.?; 17:28642988-28642988	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Unknown
c.2963T>C; p.V988A; 17:28634624-28634624	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3847C>T; p.R1283C; 17:28632198-28632198	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1772G>A; p.G591D; 17:28637170-28637170	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3674A>C; p.H1225P; 17:28633073-28633073	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4821G>A; p.Q1607Q; 17:28623898-28623898	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6525G>T; p.Q2175H; 17:28615664-28615664	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2784C>T; p.A928A; 17:28634803-28634803	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6525G>T; p.Q2175H; 17:28615664-28615664	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1926C>T; p.L642L; 17:28637016-28637016	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2385G>T; p.E795D; 17:28635202-28635202	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2282G>A; p.R761Q; 17:28635305-28635305	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2881C>G; p.R961G; 17:28634706-28634706	breast	carcinoma	Substitution - Missense
c.3382T>C; p.W1128R; 17:28633632-28633632	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.3702C>T; p.F1234F; 17:28633045-28633045	soft_tissue; blood_vessel	angiosarcoma	Substitution - coding silent
c.5980C>T; p.R1994W; 17:28616930-28616930	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1091C>T; p.T364I; 17:28639453-28639453	skin	malignant_melanoma	Substitution - Missense
c.2056C>G; p.L686V; 17:28635531-28635531	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.6490G>A; p.V2164I; 17:28615699-28615699	urinary_tract; bladder	carcinoma	Substitution - Missense
c.282T>C; p.R94R; 17:28643278-28643278	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2056C>G; p.L686V; 17:28635531-28635531	breast	carcinoma	Substitution - Missense
c.564G>C; p.K188N; 17:28642287-28642287	ovary	other; neoplasm	Substitution - Missense
c.1911C>T; p.I637I; 17:28637031-28637031	skin; upper_leg	malignant_melanoma	Substitution - coding silent
c.2756G>A; p.R919Q; 17:28634831-28634831	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2756G>A; p.R919Q; 17:28634831-28634831	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2756G>A; p.R919Q; 17:28634831-28634831	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2579C>T; p.S860F; 17:28635008-28635008	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5463G>A; p.V1821V; 17:28619917-28619917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1741A>G; p.M581V; 17:28637866-28637866	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5814C>T; p.L1938L; 17:28618800-28618800	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2620G>A; p.V874I; 17:28634967-28634967	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1741A>G; p.M581V; 17:28637866-28637866	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4993C>T; p.L1665L; 17:28621465-28621465	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1515T>C; p.G505G; 17:28638092-28638092	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2410A>T; p.N804Y; 17:28635177-28635177	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.916C>A; p.L306M; 17:28640000-28640000	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2859C>T; p.L953L; 17:28634728-28634728	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.138C>T; p.S46S; 17:28644118-28644118	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1413C>T; p.C471C; 17:28638351-28638351	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2046C>G; p.V682V; 17:28635541-28635541	breast	carcinoma	Substitution - coding silent
c.851A>G; p.E284G; 17:28640599-28640599	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4258T>A; p.S1420T; 17:28631520-28631520	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4171G>A; p.V1391I; 17:28631607-28631607	pancreas	carcinoma	Substitution - Missense
c.4171G>A; p.V1391I; 17:28631607-28631607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4021C>T; p.Q1341*; 17:28631895-28631895	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5754G>A; p.W1918*; 17:28618860-28618860	pancreas	carcinoma	Substitution - Nonsense
c.6575G>T; p.R2192L; 17:28615197-28615197	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.897G>A; p.L299L; 17:28640019-28640019	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2924C>T; p.A975V; 17:28634663-28634663	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.944A>G; p.D315G; 17:28639972-28639972	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5498A>C; p.K1833T; 17:28619882-28619882	liver	carcinoma	Substitution - Missense
c.5498A>C; p.K1833T; 17:28619882-28619882	liver	carcinoma	Substitution - Missense
c.5129G>T; p.R1710L; 17:28621101-28621101	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4725C>T; p.N1575N; 17:28624260-28624260	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3141C>T; p.G1047G; 17:28634016-28634016	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.6263G>C; p.R2088T; 17:28616404-28616404	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3141C>T; p.G1047G; 17:28634016-28634016	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.873C>G; p.S291S; 17:28640577-28640577	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3689G>T; p.R1230L; 17:28633058-28633058	skin	malignant_melanoma	Substitution - Missense
c.5404G>C; p.E1802Q; 17:28619976-28619976	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.488G>A; p.R163K; 17:28642896-28642896	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.5404G>C; p.E1802Q; 17:28619976-28619976	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1582C>T; p.R528*; 17:28638025-28638025	large_intestine; colon	carcinoma	Substitution - Nonsense
c.6663C>T; p.G2221G; 17:28615109-28615109	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3398G>A; p.R1133H; 17:28633616-28633616	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1045C>T; p.R349C; 17:28639613-28639613	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.98G>T; p.W33L; 17:28644158-28644158	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5982G>A; p.R1994R; 17:28616928-28616928	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.5892C>T; p.L1964L; 17:28617250-28617250	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.5892C>T; p.L1964L; 17:28617250-28617250	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1046G>A; p.R349H; 17:28639612-28639612	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1046G>A; p.R349H; 17:28639612-28639612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6087C>G; p.F2029L; 17:28616688-28616688	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3139G>A; p.G1047S; 17:28634018-28634018	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.537A>G; p.L179L; 17:28642314-28642314	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.6140C>T; p.S2047F; 17:28616635-28616635	skin	malignant_melanoma	Substitution - Missense
c.336C>T; p.S112S; 17:28643224-28643224	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.4169C>T; p.T1390I; 17:28631609-28631609	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2411A>C; p.N804T; 17:28635176-28635176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1293C>T; p.S431S; 17:28638579-28638579	skin	malignant_melanoma	Substitution - coding silent
c.447T>A; p.D149E; 17:28642937-28642937	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5243-4C>T; p.?; 17:28620634-28620634	stomach	carcinoma; adenocarcinoma	Unknown
c.3184T>C; p.L1062L; 17:28633973-28633973	skin	malignant_melanoma	Substitution - coding silent
c.5615A>C; p.E1872A; 17:28619681-28619681	liver	carcinoma	Substitution - Missense
c.2705A>T; p.K902M; 17:28634882-28634882	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2997T>C; p.P999P; 17:28634590-28634590	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1676C>G; p.S559C; 17:28637931-28637931	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2815G>A; p.E939K; 17:28634772-28634772	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6274C>T; p.R2092C; 17:28616393-28616393	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3386G>A; p.W1129*; 17:28633628-28633628	skin	malignant_melanoma	Substitution - Nonsense
c.6274C>T; p.R2092C; 17:28616393-28616393	urinary_tract; bladder	carcinoma	Substitution - Missense
c.730G>T; p.G244C; 17:28641925-28641925	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6086T>A; p.F2029Y; 17:28616689-28616689	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4830C>A; p.H1610Q; 17:28623889-28623889	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2855G>A; p.R952H; 17:28634732-28634732	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6045C>G; p.I2015M; 17:28616730-28616730	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4926C>T; p.P1642P; 17:28623793-28623793	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3070+1G>T; p.?; 17:28634516-28634516	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.1726T>C; p.L576L; 17:28637881-28637881	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1726T>C; p.L576L; 17:28637881-28637881	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2786G>A; p.R929H; 17:28634801-28634801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3365C>G; p.P1122R; 17:28633649-28633649	pancreas	carcinoma	Substitution - Missense
c.2507G>A; p.R836Q; 17:28635080-28635080	liver	carcinoma	Substitution - Missense
c.2507G>A; p.R836Q; 17:28635080-28635080	liver	carcinoma	Substitution - Missense
c.1778C>T; p.S593L; 17:28637164-28637164	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.327C>T; p.F109F; 17:28643233-28643233	breast	carcinoma	Substitution - coding silent
c.2604T>C; p.P868P; 17:28634983-28634983	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3059A>G; p.K1020R; 17:28634528-28634528	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.219T>G; p.I73M; 17:28643639-28643639	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4667T>C; p.M1556T; 17:28624318-28624318	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1573T>G; p.C525G; 17:28638034-28638034	kidney	other; neoplasm	Substitution - Missense
c.4242C>T; p.H1414H; 17:28631536-28631536	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1150G>A; p.E384K; 17:28639394-28639394	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3147G>T; p.E1049D; 17:28634010-28634010	prostate	carcinoma	Substitution - Missense
c.5037C>T; p.G1679G; 17:28621421-28621421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1513-1G>C; p.?; 17:28638095-28638095	lung; right_lower_lobe	carcinoma; adenocarcinoma	Unknown
c.5037C>T; p.G1679G; 17:28621421-28621421	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5037C>T; p.G1679G; 17:28621421-28621421	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2212G>A; p.A738T; 17:28635375-28635375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.810_817delCCTTCTCC; p.F270fs*10; 17:28640633-28640640	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2857C>G; p.L953V; 17:28634730-28634730	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2478G>A; p.V826V; 17:28635109-28635109	breast	carcinoma	Substitution - coding silent
c.4184C>T; p.A1395V; 17:28631594-28631594	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1229G>T; p.R410I; 17:28639315-28639315	breast	carcinoma	Substitution - Missense
c.3917A>G; p.N1306S; 17:28632128-28632128	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5723G>A; p.R1908H; 17:28618891-28618891	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1040G>A; p.R347H; 17:28639618-28639618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1550A>C; p.Q517P; 17:28638057-28638057	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3882T>C; p.S1294S; 17:28632163-28632163	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4621G>A; p.E1541K; 17:28624364-28624364	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2851C>T; p.R951C; 17:28634736-28634736	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5059+2T>C; p.?; 17:28621397-28621397	kidney	carcinoma; papillary_renal_cell_carcinoma	Unknown
c.2468C>G; p.S823*; 17:28635119-28635119	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense

COSMIC somatic mutation [Top]