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 summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

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

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.36.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.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

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]