Entrez Gene

Basic Information
Gene ID	672
Name	BRCA1
Synonymous	breast cancer 1, early onset;BRCA1;breast cancer 1, early onset
Definition	BRCA1/BRCA2-containing complex, subunit 1\|Fanconi anemia, complementation group S\|RING finger protein 53\|breast and ovarian cancer susceptibility protein 1\|breast and ovarian cancer sususceptibility protein 1\|breast cancer type 1 susceptibility protein\|pr
Position	17q21
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.3372C>T; p.F1124F; 17:43092159-43092159	skin	malignant_melanoma	Substitution - coding silent
c.2288C>T; p.S763F; 17:43093243-43093243	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.824G>A; p.G275D; 17:43094707-43094707	skin; sole	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.824G>A; p.G275D; 17:43094707-43094707	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.4581G>T; p.E1527D; 17:43074425-43074425	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1729G>T; p.E577*; 17:43093802-43093802	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4496C>T; p.S1499F; 17:43074510-43074510	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1883G>A; p.S628N; 17:43093648-43093648	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.25G>C; p.E9Q; 17:43124072-43124072	breast	carcinoma	Substitution - Missense
c.4643C>T; p.T1548M; 17:43074363-43074363	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2494C>T; p.P832S; 17:43093037-43093037	skin	malignant_melanoma	Substitution - Missense
c.4946G>A; p.R1649K; 17:43070968-43070968	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.3774G>T; p.E1258D; 17:43091757-43091757	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3774G>T; p.E1258D; 17:43091757-43091757	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.80+1G>A; p.?; 17:43124016-43124016	breast	carcinoma	Unknown
c.1303G>T; p.D435Y; 17:43094228-43094228	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1415C>A; p.P472H; 17:43094116-43094116	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.5073A>C; p.T1691T; 17:43067609-43067609	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2736G>C; p.K912N; 17:43092795-43092795	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.80+1G>T; p.?; 17:43124016-43124016	ovary	carcinoma; serous_carcinoma	Unknown
c.5278-1G>T; p.?; 17:43051118-43051118	ovary	carcinoma; serous_carcinoma	Unknown
c.3059C>T; p.P1020L; 17:43092472-43092472	skin	malignant_melanoma	Substitution - Missense
c.5432A>T; p.Q1811L; 17:43047678-43047678	breast	carcinoma	Substitution - Missense
c.547+1G>A; p.?; 17:43099774-43099774	pancreas	carcinoma	Unknown
c.5278-1G>T; p.?; 17:43051118-43051118	ovary	carcinoma; serous_carcinoma	Unknown
c.20G>T; p.R7L; 17:43124077-43124077	ovary	other; neoplasm	Substitution - Missense
c.171G>A; p.G57G; 17:43106497-43106497	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3252T>A; p.L1084L; 17:43092279-43092279	breast	carcinoma	Substitution - coding silent
c.4308T>C; p.S1436S; 17:43082453-43082453	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4150G>T; p.G1384W; 17:43090979-43090979	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.340T>A; p.S114T; 17:43104223-43104223	urinary_tract; bladder	carcinoma	Substitution - Missense
c.340T>A; p.S114T; 17:43104223-43104223	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1309C>G; p.H437D; 17:43094222-43094222	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2250C>T; p.L750L; 17:43093281-43093281	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3648_3649insAGAACTTA; p.S1217fs*21; 17:43091882-43091883	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.2274G>A; p.L758L; 17:43093257-43093257	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2274G>A; p.L758L; 17:43093257-43093257	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2274G>A; p.L758L; 17:43093257-43093257	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3713C>A; p.P1238H; 17:43091818-43091818	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1960_1961insA; p.Y655fs*18; 17:43093570-43093571	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.4676-1G>A; p.?; 17:43071239-43071239	breast	carcinoma	Unknown
c.504G>A; p.K168K; 17:43099818-43099818	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5570_5573delAGAT; p.Q1857fs*>6; 17:43045697-43045700	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.4606G>A; p.E1536K; 17:43074400-43074400	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3263T>C; p.V1088A; 17:43092268-43092268	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3562_3563delAG; p.R1188fs*3; 17:43091968-43091969	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.3362_3363insA; p.N1121fs*12; 17:43092168-43092169	breast	carcinoma	Insertion - Frameshift
c.1537C>T; p.H513Y; 17:43093994-43093994	skin	malignant_melanoma	Substitution - Missense
c.2379G>A; p.K793K; 17:43093152-43093152	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.509G>A; p.R170Q; 17:43099813-43099813	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3736A>G; p.T1246A; 17:43091795-43091795	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.744C>A; p.T248T; 17:43094787-43094787	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3736A>G; p.T1246A; 17:43091795-43091795	stomach	adenocarcinoma	Substitution - Missense
c.1292T>G; p.L431*; 17:43094239-43094239	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.68_69delAG; p.E23fs*17; 17:43124028-43124029	central_nervous_system; brainstem	glioma; astrocytoma_Grade_III	Deletion - Frameshift
c.859_863delAACAG; p.N287fs*6; 17:43094668-43094672	ovary	carcinoma	Deletion - Frameshift
c.1965C>G; p.Y655*; 17:43093566-43093566	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3082C>T; p.R1028C; 17:43092449-43092449	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4946G>T; p.R1649I; 17:43070968-43070968	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2684A>G; p.Q895R; 17:43092847-43092847	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3739G>A; p.V1247I; 17:43091792-43091792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4399C>T; p.Q1467*; 17:43076573-43076573	ovary	other; neoplasm	Substitution - Nonsense
c.4399C>T; p.Q1467*; 17:43076573-43076573	ovary	other; neoplasm	Substitution - Nonsense
c.1603G>T; p.G535*; 17:43093928-43093928	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4327C>T; p.R1443*; 17:43082434-43082434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1108G>A; p.V370I; 17:43094423-43094423	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.4484+1delG; p.?; 17:43076487-43076487	ovary	carcinoma; serous_carcinoma	Unknown
c.141C>G; p.C47W; 17:43106527-43106527	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2429A>C; p.N810T; 17:43093102-43093102	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.67delG; p.E23fs*8; 17:43124030-43124030	breast	carcinoma	Deletion - Frameshift
c.2429A>C; p.N810T; 17:43093102-43093102	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5290C>A; p.L1764I; 17:43051105-43051105	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1343A>G; p.H448R; 17:43094188-43094188	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1202G>A; p.G401E; 17:43094329-43094329	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1041G>A; p.L347L; 17:43094490-43094490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1041G>A; p.L347L; 17:43094490-43094490	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1382T>G; p.F461C; 17:43094149-43094149	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2269delG; p.V757fs*8; 17:43093262-43093262	ovary	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.4134C>T; p.V1378V; 17:43090995-43090995	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2269delG; p.V757fs*8; 17:43093262-43093262	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.5132A>G; p.K1711R; 17:43063894-43063894	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2613G>A; p.P871P; 17:43092918-43092918	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.21C>T; p.R7R; 17:43124076-43124076	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5074G>A; p.D1692N; 17:43067608-43067608	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.21C>T; p.R7R; 17:43124076-43124076	ovary	other; neoplasm	Substitution - coding silent
c.5492C>T; p.P1831L; 17:43045778-43045778	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.669G>C; p.K223N; 17:43095847-43095847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.889A>G; p.M297V; 17:43094642-43094642	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4686T>C; p.P1562P; 17:43071228-43071228	skin	malignant_melanoma	Substitution - coding silent
c.3436_3439delTGTT; p.C1146fs*8; 17:43092092-43092095	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.5447C>G; p.T1816R; 17:43047663-43047663	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.348A>G; p.E116E; 17:43104215-43104215	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.329delA; p.K110fs*9; 17:43104234-43104234	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.348A>G; p.E116E; 17:43104215-43104215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4164G>A; p.Q1388Q; 17:43090965-43090965	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1-3G>C; p.?; 17:43124099-43124099	breast	carcinoma; ductal_carcinoma	Unknown
c.4265_4266GG>TT; p.G1422V; 17:43082495-43082496	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2060A>C; p.Q687P; 17:43093471-43093471	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2931A>G; p.P977P; 17:43092600-43092600	ovary	other; neoplasm	Substitution - coding silent
c.2060A>C; p.Q687P; 17:43093471-43093471	pancreas	carcinoma	Substitution - Missense
c.1-3G>C; p.?; 17:43124099-43124099	breast	carcinoma; ductal_carcinoma	Unknown
c.342T>C; p.S114S; 17:43104221-43104221	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1353A>G; p.S451S; 17:43094178-43094178	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.342T>C; p.S114S; 17:43104221-43104221	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.286G>C; p.D96H; 17:43104883-43104883	breast	carcinoma	Substitution - Missense
c.3026C>A; p.S1009*; 17:43092505-43092505	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.342T>C; p.S114S; 17:43104221-43104221	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.342T>C; p.S114S; 17:43104221-43104221	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1353A>G; p.S451S; 17:43094178-43094178	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.342T>C; p.S114S; 17:43104221-43104221	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.342T>C; p.S114S; 17:43104221-43104221	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3326A>C; p.K1109T; 17:43092205-43092205	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2945C>T; p.P982L; 17:43092586-43092586	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4572T>A; p.S1524S; 17:43074434-43074434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3903T>C; p.S1301S; 17:43091628-43091628	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1204G>A; p.E402K; 17:43094327-43094327	skin	malignant_melanoma	Substitution - Missense
c.2945C>T; p.P982L; 17:43092586-43092586	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2333G>A; p.G778D; 17:43093198-43093198	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1570G>A; p.A524T; 17:43093961-43093961	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4208A>G; p.N1403S; 17:43082553-43082553	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1485G>A; p.E495E; 17:43094046-43094046	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2971A>C; p.K991Q; 17:43092560-43092560	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5442C>T; p.A1814A; 17:43047668-43047668	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.567T>C; p.D189D; 17:43097270-43097270	pancreas	carcinoma	Substitution - coding silent
c.5023A>G; p.T1675A; 17:43067659-43067659	liver	carcinoma	Substitution - Missense
c.1067A>G; p.Q356R; 17:43094464-43094464	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5023A>G; p.T1675A; 17:43067659-43067659	liver	carcinoma	Substitution - Missense
c.3925A>C; p.N1309H; 17:43091606-43091606	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4269C>G; p.S1423R; 17:43082492-43082492	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3478A>T; p.K1160*; 17:43092053-43092053	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1096G>A; p.D366N; 17:43094435-43094435	breast	carcinoma	Substitution - Missense
c.5055T>C; p.T1685T; 17:43067627-43067627	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1116G>A; p.W372*; 17:43094415-43094415	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.5245C>T; p.P1749S; 17:43057084-43057084	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5245C>T; p.P1749S; 17:43057084-43057084	skin	malignant_melanoma	Substitution - Missense
c.1961delA; p.K654fs*47; 17:43093570-43093570	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1961delA; p.K654fs*47; 17:43093570-43093570	stomach	adenocarcinoma	Deletion - Frameshift
c.1961delA; p.K654fs*47; 17:43093570-43093570	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1961delA; p.K654fs*47; 17:43093570-43093570	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3526_3526delG; p.V1176fs*34; 17:43092005-43092005	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2604_2605insGTCA; p.F869fs*35; 17:43092926-43092927	ovary	carcinoma	Insertion - Frameshift
c.4614G>A; p.Q1538Q; 17:43074392-43074392	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.441+2T>A; p.?; 17:43104120-43104120	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.5253A>G; p.R1751R; 17:43057076-43057076	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5253A>G; p.R1751R; 17:43057076-43057076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3773A>G; p.E1258G; 17:43091758-43091758	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.441+2T>A; p.?; 17:43104120-43104120	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.3199A>T; p.N1067Y; 17:43092332-43092332	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.441+2T>A; p.?; 17:43104120-43104120	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.925A>C; p.K309Q; 17:43094606-43094606	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1017G>A; p.K339K; 17:43094514-43094514	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1473G>A; p.Q491Q; 17:43094058-43094058	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2017G>T; p.E673*; 17:43093514-43093514	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.346G>A; p.E116K; 17:43104217-43104217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4787C>A; p.S1596*; 17:43071127-43071127	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3031G>A; p.E1011K; 17:43092500-43092500	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.280C>T; p.Q94*; 17:43104889-43104889	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1961_1961delA; p.K654fs*47; 17:43093570-43093570	ovary	carcinoma	Deletion - Frameshift
c.3642G>T; p.E1214D; 17:43091889-43091889	skin	malignant_melanoma	Substitution - Missense
c.525G>T; p.K175N; 17:43099797-43099797	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3310A>G; p.K1104E; 17:43092221-43092221	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5333-1G>T; p.?; 17:43049195-43049195	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2885A>C; p.E962A; 17:43092646-43092646	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3310A>G; p.K1104E; 17:43092221-43092221	stomach	adenocarcinoma	Substitution - Missense
c.1441C>T; p.L481L; 17:43094090-43094090	skin	malignant_melanoma	Substitution - coding silent
c.4162C>G; p.Q1388E; 17:43090967-43090967	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.4155A>G; p.L1385L; 17:43090974-43090974	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.5440delG; p.A1814fs*20; 17:43047670-43047670	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2963C>G; p.S988*; 17:43092568-43092568	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.5503C>A; p.R1835R; 17:43045767-43045767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1585C>T; p.P529S; 17:43093946-43093946	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1234G>A; p.V412I; 17:43094297-43094297	thyroid	carcinoma	Substitution - Missense
c.5505A>G; p.R1835R; 17:43045765-43045765	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4993G>T; p.V1665L; 17:43067689-43067689	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5505A>G; p.R1835R; 17:43045765-43045765	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2612C>T; p.P871L; 17:43092919-43092919	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2612C>T; p.P871L; 17:43092919-43092919	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2612C>T; p.P871L; 17:43092919-43092919	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2612C>T; p.P871L; 17:43092919-43092919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1682C>A; p.S561Y; 17:43093849-43093849	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2612C>T; p.P871L; 17:43092919-43092919	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3862delG; p.E1288fs*19; 17:43091669-43091669	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.2612C>T; p.P871L; 17:43092919-43092919	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2935C>T; p.R979C; 17:43092596-43092596	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2719G>A; p.E907K; 17:43092812-43092812	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5504G>T; p.R1835L; 17:43045766-43045766	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1829G>T; p.R610M; 17:43093702-43093702	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2927A>G; p.N976S; 17:43092604-43092604	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1961_1962insA; p.Y655fs*18; 17:43093569-43093570	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2004C>T; p.L668L; 17:43093527-43093527	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.90G>T; p.L30F; 17:43115770-43115770	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.90G>T; p.L30F; 17:43115770-43115770	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.90G>T; p.L30F; 17:43115770-43115770	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.90G>T; p.L30F; 17:43115770-43115770	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.4099G>C; p.E1367Q; 17:43091030-43091030	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1723G>C; p.E575Q; 17:43093808-43093808	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4099G>C; p.E1367Q; 17:43091030-43091030	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1103A>G; p.E368G; 17:43094428-43094428	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3671C>T; p.P1224L; 17:43091860-43091860	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3418A>G; p.S1140G; 17:43092113-43092113	breast	carcinoma; luminal_NS_carcinoma	Substitution - Missense
c.114G>T; p.K38N; 17:43115746-43115746	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.5503C>T; p.R1835*; 17:43045767-43045767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5503C>T; p.R1835*; 17:43045767-43045767	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1518G>T; p.R506S; 17:43094013-43094013	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.149A>C; p.K50T; 17:43106519-43106519	breast	carcinoma	Substitution - Missense
c.1866G>A; p.A622A; 17:43093665-43093665	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4612C>T; p.Q1538*; 17:43074394-43074394	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.3926A>T; p.N1309I; 17:43091605-43091605	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5245_5246CC>TT; p.P1749L; 17:43057083-43057084	skin	malignant_melanoma	Substitution - Missense
c.3042G>A; p.M1014I; 17:43092489-43092489	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2438delG; p.G813fs*2; 17:43093093-43093093	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.4930G>T; p.E1644*; 17:43070984-43070984	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3042G>A; p.M1014I; 17:43092489-43092489	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Missense
c.2398A>T; p.K800*; 17:43093133-43093133	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.5406+4delA; p.?; 17:43049117-43049117	NS	NS	Unknown
c.4440T>C; p.S1480S; 17:43076532-43076532	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3027A>G; p.S1009S; 17:43092504-43092504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1865C>T; p.A622V; 17:43093666-43093666	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1293A>G; p.L431L; 17:43094238-43094238	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1988G>A; p.S663N; 17:43093543-43093543	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1865C>T; p.A622V; 17:43093666-43093666	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1293A>G; p.L431L; 17:43094238-43094238	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1865C>T; p.A622V; 17:43093666-43093666	pancreas	carcinoma	Substitution - Missense
c.1865C>T; p.A622V; 17:43093666-43093666	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3027A>G; p.S1009S; 17:43092504-43092504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3548A>G; p.K1183R; 17:43091983-43091983	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2069A>G; p.K690R; 17:43093462-43093462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3548A>G; p.K1183R; 17:43091983-43091983	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3548A>G; p.K1183R; 17:43091983-43091983	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3548A>G; p.K1183R; 17:43091983-43091983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3548A>G; p.K1183R; 17:43091983-43091983	thyroid	other; neoplasm	Substitution - Missense
c.4766G>A; p.R1589H; 17:43071148-43071148	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3548A>G; p.K1183R; 17:43091983-43091983	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3548A>G; p.K1183R; 17:43091983-43091983	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.32_33insC; p.Q12fs*5; 17:43124064-43124065	ovary	carcinoma; transitional_cell_carcinoma	Insertion - Frameshift
c.2468G>T; p.R823I; 17:43093063-43093063	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2986A>C; p.K996Q; 17:43092545-43092545	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.882delA; p.D295fs*3; 17:43094649-43094649	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.5383_5384insT; p.S1796fs*34; 17:43049143-43049144	ovary	carcinoma; undifferentiated_carcinoma	Insertion - Frameshift
c.1421T>G; p.L474*; 17:43094110-43094110	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.604C>T; p.Q202*; 17:43095912-43095912	skin	malignant_melanoma	Substitution - Nonsense
c.2800C>T; p.Q934*; 17:43092731-43092731	breast	carcinoma	Substitution - Nonsense
c.2708G>C; p.C903S; 17:43092823-43092823	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4030G>A; p.D1344N; 17:43091501-43091501	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4030G>A; p.D1344N; 17:43091501-43091501	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1714G>A; p.E572K; 17:43093817-43093817	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1720C>A; p.L574I; 17:43093811-43093811	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5313C>T; p.P1771P; 17:43051082-43051082	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.3563G>A; p.R1188K; 17:43091968-43091968	liver	carcinoma	Substitution - Missense
c.3563G>A; p.R1188K; 17:43091968-43091968	liver	carcinoma	Substitution - Missense
c.3420T>C; p.S1140S; 17:43092111-43092111	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3420T>C; p.S1140S; 17:43092111-43092111	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3762_3766delGAACA; p.K1254fs*11; 17:43091765-43091769	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.3548_3549delAA; p.K1183fs*4; 17:43091982-43091983	endometrium	carcinoma	Deletion - Frameshift
c.5258G>A; p.R1753K; 17:43057071-43057071	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5258G>A; p.R1753K; 17:43057071-43057071	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1294C>G; p.L432V; 17:43094237-43094237	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2825C>T; p.A942V; 17:43092706-43092706	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5380G>T; p.E1794*; 17:43049147-43049147	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.5380G>T; p.E1794*; 17:43049147-43049147	ovary	other; neoplasm	Substitution - Nonsense
c.1931_1933delGTT; p.C644delC; 17:43093598-43093600	breast	carcinoma	Deletion - In frame
c.1122A>G; p.T374T; 17:43094409-43094409	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2450delG; p.G817fs*29; 17:43093081-43093081	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.5129delG; p.G1710fs*4; 17:43063897-43063897	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2679G>T; p.K893N; 17:43092852-43092852	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2274G>C; p.L758F; 17:43093257-43093257	breast	carcinoma; ductolobular_carcinoma	Substitution - Missense
c.1855C>A; p.H619N; 17:43093676-43093676	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3172A>G; p.I1058V; 17:43092359-43092359	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2082C>T; p.S694S; 17:43093449-43093449	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.331G>T; p.E111*; 17:43104232-43104232	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1855C>A; p.H619N; 17:43093676-43093676	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5333-5T>C; p.?; 17:43049199-43049199	pancreas	carcinoma	Unknown
c.2082C>T; p.S694S; 17:43093449-43093449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1855C>A; p.H619N; 17:43093676-43093676	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2082C>T; p.S694S; 17:43093449-43093449	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1855C>A; p.H619N; 17:43093676-43093676	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1855C>A; p.H619N; 17:43093676-43093676	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5333-5T>C; p.?; 17:43049199-43049199	pancreas	carcinoma	Unknown
c.1855C>A; p.H619N; 17:43093676-43093676	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3748G>A; p.E1250K; 17:43091783-43091783	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3748G>A; p.E1250K; 17:43091783-43091783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.963G>T; p.W321C; 17:43094568-43094568	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.404A>G; p.K135R; 17:43104159-43104159	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3113A>G; p.E1038G; 17:43092418-43092418	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3113A>G; p.E1038G; 17:43092418-43092418	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2072G>T; p.R691I; 17:43093459-43093459	thyroid	other; neoplasm	Substitution - Missense
c.4025C>T; p.S1342L; 17:43091506-43091506	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.1120A>G; p.T374A; 17:43094411-43094411	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2311T>C; p.L771L; 17:43093220-43093220	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2311T>C; p.L771L; 17:43093220-43093220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.5363G>T; p.G1788V; 17:43049164-43049164	breast	carcinoma	Substitution - Missense
c.4302T>C; p.S1434S; 17:43082459-43082459	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3724A>G; p.T1242A; 17:43091807-43091807	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4427A>G; p.K1476R; 17:43076545-43076545	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.590G>T; p.C197F; 17:43097247-43097247	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4709T>C; p.L1570P; 17:43071205-43071205	skin	malignant_melanoma	Substitution - Missense
c.4427A>G; p.K1476R; 17:43076545-43076545	stomach	adenocarcinoma	Substitution - Missense
c.1254G>C; p.E418D; 17:43094277-43094277	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1714G>T; p.E572*; 17:43093817-43093817	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1086G>A; p.E362E; 17:43094445-43094445	breast	carcinoma	Substitution - coding silent
c.4778_4779insT; p.P1594fs*28; 17:43071135-43071136	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2958C>G; p.I986M; 17:43092573-43092573	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.340T>C; p.S114P; 17:43104223-43104223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3367G>T; p.D1123Y; 17:43092164-43092164	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2169delT; p.P724fs*12; 17:43093362-43093362	breast	carcinoma; basal_(triple-negative)_carcinoma	Deletion - Frameshift
c.340T>C; p.S114P; 17:43104223-43104223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1116G>T; p.W372C; 17:43094415-43094415	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2858G>A; p.C953Y; 17:43092673-43092673	meninges	meningioma	Substitution - Missense
c.66_67delAG; p.E23fs*17; 17:43124030-43124031	breast	carcinoma; basal_(triple-negative)_carcinoma	Deletion - Frameshift
c.2272T>C; p.L758L; 17:43093259-43093259	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3925_3926AA>CT; p.N1309L; 17:43091605-43091606	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.231G>A; p.T77T; 17:43104938-43104938	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.5456A>G; p.N1819S; 17:43047654-43047654	prostate	adenoma	Substitution - Missense
c.5251C>T; p.R1751*; 17:43057078-43057078	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4810C>T; p.Q1604*; 17:43071104-43071104	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1555A>T; p.K519*; 17:43093976-43093976	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3025T>C; p.S1009P; 17:43092506-43092506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3025T>C; p.S1009P; 17:43092506-43092506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3025T>C; p.S1009P; 17:43092506-43092506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3025T>C; p.S1009P; 17:43092506-43092506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.814G>A; p.E272K; 17:43094717-43094717	skin	malignant_melanoma	Substitution - Missense
c.814G>A; p.E272K; 17:43094717-43094717	skin	malignant_melanoma	Substitution - Missense
c.3025T>C; p.S1009P; 17:43092506-43092506	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1352C>G; p.S451*; 17:43094179-43094179	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.2521C>T; p.R841W; 17:43093010-43093010	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2623C>T; p.P875S; 17:43092908-43092908	skin	malignant_melanoma	Substitution - Missense
c.1A>G; p.M1V; 17:43124096-43124096	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1544A>T; p.E515V; 17:43093987-43093987	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2695G>C; p.V899L; 17:43092836-43092836	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1627G>T; p.G543C; 17:43093904-43093904	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4190G>T; p.R1397M; 17:43082571-43082571	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2506G>T; p.E836*; 17:43093025-43093025	ovary	carcinoma	Substitution - Nonsense
c.1635G>A; p.V545V; 17:43093896-43093896	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.4825G>T; p.E1609*; 17:43071089-43071089	ovary	carcinoma	Substitution - Nonsense
c.3789G>T; p.L1263F; 17:43091742-43091742	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2583C>T; p.F861F; 17:43092948-43092948	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4030G>C; p.D1344H; 17:43091501-43091501	breast	carcinoma	Substitution - Missense
c.2061_2064delGACA; p.T688fs*12; 17:43093467-43093470	breast	carcinoma	Deletion - Frameshift
c.3789G>T; p.L1263F; 17:43091742-43091742	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4049G>C; p.G1350A; 17:43091482-43091482	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.805T>G; p.L269V; 17:43094726-43094726	skin	malignant_melanoma	Substitution - Missense
c.3231G>A; p.G1077G; 17:43092300-43092300	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1897C>T; p.P633S; 17:43093634-43093634	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3953T>C; p.I1318T; 17:43091578-43091578	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1031C>T; p.A344V; 17:43094500-43094500	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.3119G>A; p.S1040N; 17:43092412-43092412	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1466A>G; p.E489G; 17:43094065-43094065	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5153-1G>A; p.?; 17:43063374-43063374	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2446_2456del11; p.H816fs*3; 17:43093075-43093085	ovary	carcinoma	Deletion - Frameshift
c.5263_5264insC; p.Q1756fs*74; 17:43057065-43057066	breast	carcinoma; basal_(triple-negative)_carcinoma	Insertion - Frameshift
c.191_212del22; p.C64fs*1; 17:43106456-43106477	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.3020C>A; p.S1007*; 17:43092511-43092511	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.145C>A; p.L49M; 17:43106523-43106523	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3080G>T; p.S1027I; 17:43092451-43092451	breast	carcinoma	Substitution - Missense
c.3669T>C; p.L1223L; 17:43091862-43091862	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3841C>T; p.Q1281*; 17:43091690-43091690	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4005G>C; p.L1335L; 17:43091526-43091526	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.346G>T; p.E116*; 17:43104217-43104217	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.3569C>A; p.P1190H; 17:43091962-43091962	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3336delA; p.E1112fs*5; 17:43092195-43092195	liver	carcinoma	Deletion - Frameshift
c.246_247insT; p.V83fs*2; 17:43104922-43104923	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1702_1703CC>TT; p.P568F; 17:43093828-43093829	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2215_2216insTA; p.K739fs*15; 17:43093315-43093316	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1149T>C; p.N383N; 17:43094382-43094382	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1828A>C; p.R610R; 17:43093703-43093703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3465_3466insTGTTAGAT; p.D1156fs*2; 17:43092065-43092066	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.3298G>A; p.G1100R; 17:43092233-43092233	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3163G>A; p.G1055S; 17:43092368-43092368	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.445G>T; p.E149*; 17:43099877-43099877	ovary	other; neoplasm	Substitution - Nonsense
c.1337G>C; p.R446T; 17:43094194-43094194	urinary_tract; bladder	carcinoma	Substitution - Missense
c.189A>C; p.L63F; 17:43106479-43106479	ovary	other; neoplasm	Substitution - Missense
c.1574T>C; p.V525A; 17:43093957-43093957	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.959G>C; p.R320T; 17:43094572-43094572	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5020A>T; p.I1674F; 17:43067662-43067662	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4837A>G; p.S1613G; 17:43071077-43071077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1557delG; p.A521fs*11; 17:43093974-43093974	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.4837A>G; p.S1613G; 17:43071077-43071077	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2954C>T; p.P985L; 17:43092577-43092577	skin	malignant_melanoma	Substitution - Missense
c.3621G>T; p.K1207N; 17:43091910-43091910	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1026G>C; p.L342L; 17:43094505-43094505	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4188G>C; p.Q1396H; 17:43082573-43082573	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.139T>C; p.C47R; 17:43106529-43106529	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2659G>A; p.A887T; 17:43092872-43092872	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4188G>C; p.Q1396H; 17:43082573-43082573	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2936G>A; p.R979H; 17:43092595-43092595	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3292C>A; p.L1098I; 17:43092239-43092239	skin	malignant_melanoma	Substitution - Missense
c.2461G>T; p.D821Y; 17:43093070-43093070	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5118A>G; p.G1706G; 17:43063908-43063908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3097G>A; p.E1033K; 17:43092434-43092434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3690A>T; p.L1230F; 17:43091841-43091841	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.4785_4790delTTCAAC; p.T1597_S1598delTS; 17:43071124-43071129	skin	malignant_melanoma	Deletion - In frame
c.4675+4A>T; p.?; 17:43074327-43074327	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.2426A>G; p.E809G; 17:43093105-43093105	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3608G>A; p.R1203Q; 17:43091923-43091923	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5174A>G; p.E1725G; 17:43063352-43063352	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2158G>T; p.E720*; 17:43093373-43093373	breast	carcinoma	Substitution - Nonsense
c.1563A>G; p.A521A; 17:43093968-43093968	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1563A>G; p.A521A; 17:43093968-43093968	breast	carcinoma	Substitution - coding silent
c.3069G>A; p.V1023V; 17:43092462-43092462	breast	carcinoma	Substitution - coding silent
c.2704G>C; p.E902Q; 17:43092827-43092827	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2773_2774insA; p.I925fs*13; 17:43092757-43092758	breast	carcinoma; ductal_carcinoma	Insertion - Frameshift
c.4196C>G; p.T1399S; 17:43082565-43082565	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2334C>A; p.G778G; 17:43093197-43093197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5366C>T; p.A1789V; 17:43049161-43049161	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1932T>G; p.C644W; 17:43093599-43093599	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3343G>C; p.E1115Q; 17:43092188-43092188	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3794_3795insAA; p.N1265fs*4; 17:43091736-43091737	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.1630C>G; p.Q544E; 17:43093901-43093901	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2225A>G; p.N742S; 17:43093306-43093306	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.5277+1G>A; p.?; 17:43057051-43057051	breast	carcinoma; basal_(triple-negative)_carcinoma	Unknown
c.1630C>G; p.Q544E; 17:43093901-43093901	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.4784C>T; p.S1595F; 17:43071130-43071130	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1616C>T; p.T539M; 17:43093915-43093915	pancreas	carcinoma	Substitution - Missense
c.141C>T; p.C47C; 17:43106527-43106527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2731G>A; p.G911R; 17:43092800-43092800	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3761A>C; p.K1254T; 17:43091770-43091770	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2441T>C; p.L814P; 17:43093090-43093090	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2803A>T; p.K935*; 17:43092728-43092728	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.5173G>T; p.E1725*; 17:43063353-43063353	ovary	carcinoma; mixed_carcinoma	Substitution - Nonsense
c.441+2T>G; p.?; 17:43104120-43104120	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1344C>T; p.H448H; 17:43094187-43094187	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2668G>A; p.G890R; 17:43092863-43092863	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3896A>T; p.Q1299L; 17:43091635-43091635	skin	malignant_melanoma	Substitution - Missense
c.441+2T>G; p.?; 17:43104120-43104120	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.4641G>T; p.L1547F; 17:43074365-43074365	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4765C>T; p.R1589C; 17:43071149-43071149	skin	malignant_melanoma	Substitution - Missense
c.2332G>T; p.G778C; 17:43093199-43093199	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3229G>T; p.G1077W; 17:43092302-43092302	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.441+2T>G; p.?; 17:43104120-43104120	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.441+2T>G; p.?; 17:43104120-43104120	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.441+2T>G; p.?; 17:43104120-43104120	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1665delT; p.N555fs*17; 17:43093866-43093866	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.441+2T>G; p.?; 17:43104120-43104120	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.3827T>A; p.L1276*; 17:43091704-43091704	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.4920A>C; p.T1640T; 17:43070994-43070994	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.156C>A; p.L52L; 17:43106512-43106512	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1788C>T; p.L596L; 17:43093743-43093743	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5000A>C; p.K1667T; 17:43067682-43067682	liver	carcinoma	Substitution - Missense
c.5000A>C; p.K1667T; 17:43067682-43067682	liver	carcinoma	Substitution - Missense
c.962G>T; p.W321L; 17:43094569-43094569	prostate	adenoma	Substitution - Missense
c.5574C>A; p.I1858I; 17:43045696-43045696	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1227A>T; p.V409V; 17:43094304-43094304	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5333-2A>G; p.?; 17:43049196-43049196	urinary_tract; bladder	carcinoma	Unknown
c.5277+1G>T; p.?; 17:43057051-43057051	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.5333-2A>G; p.?; 17:43049196-43049196	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.427G>C; p.E143Q; 17:43104136-43104136	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4508C>A; p.S1503*; 17:43074498-43074498	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.427G>C; p.E143Q; 17:43104136-43104136	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4324C>T; p.L1442L; 17:43082437-43082437	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.4791C>T; p.T1597T; 17:43071123-43071123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1359G>T; p.E453D; 17:43094172-43094172	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1817C>T; p.P606L; 17:43093714-43093714	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]