Entrez Gene

Basic Information
Gene ID	8243
Name	SMC1A

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.1180G>A; p.E394K; 23:53411835-53411835	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2028G>T; p.E676D; 23:53405275-53405275	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.101A>G; p.N34S; 23:53422500-53422500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2595G>T; p.E865D; 23:53396585-53396585	breast	carcinoma	Substitution - Missense
c.1145C>G; p.A382G; 23:53411870-53411870	skin	malignant_melanoma	Substitution - Missense
c.2114C>T; p.A705V; 23:53405094-53405094	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2114C>T; p.A705V; 23:53405094-53405094	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2563-1G>A; p.?; 23:53396618-53396618	lung	carcinoma; small_cell_carcinoma	Unknown
c.1549G>A; p.G517S; 23:53405953-53405953	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3152G>T; p.R1051L; 23:53382639-53382639	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3058A>G; p.I1020V; 23:53383169-53383169	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2924G>A; p.R975Q; 23:53394827-53394827	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1756C>T; p.R586W; 23:53405648-53405648	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3316C>T; p.P1106S; 23:53382353-53382353	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1904G>A; p.R635H; 23:53405500-53405500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.953C>T; p.S318F; 23:53412155-53412155	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1990delC; p.R664fs*8; 23:53405313-53405313	skin; trunk	malignant_melanoma	Deletion - Frameshift
c.1948G>T; p.G650*; 23:53405355-53405355	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.562C>T; p.R188C; 23:53413285-53413285	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2395C>T; p.R799W; 23:53403591-53403591	breast	carcinoma	Substitution - Missense
c.3055C>T; p.R1019C; 23:53383172-53383172	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1444G>T; p.E482*; 23:53409163-53409163	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3393G>A; p.G1131G; 23:53382276-53382276	breast	carcinoma	Substitution - coding silent
c.991G>T; p.G331C; 23:53412117-53412117	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.232G>A; p.A78T; 23:53415047-53415047	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1745A>G; p.D582G; 23:53405659-53405659	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2369G>A; p.R790Q; 23:53403617-53403617	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.287G>A; p.R96H; 23:53414992-53414992	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2369G>A; p.R790Q; 23:53403617-53403617	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2369G>A; p.R790Q; 23:53403617-53403617	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2369G>A; p.R790Q; 23:53403617-53403617	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2369G>A; p.R790Q; 23:53403617-53403617	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3178G>A; p.E1060K; 23:53382613-53382613	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.104G>T; p.G35V; 23:53422497-53422497	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1414G>T; p.E472*; 23:53409193-53409193	breast	carcinoma	Substitution - Nonsense
c.3270C>T; p.R1090R; 23:53382521-53382521	breast	carcinoma	Substitution - coding silent
c.2705A>G; p.N902S; 23:53396475-53396475	pancreas	carcinoma	Substitution - Missense
c.578C>T; p.A193V; 23:53413269-53413269	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1663G>A; p.D555N; 23:53405839-53405839	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3269G>A; p.R1090H; 23:53382522-53382522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1235G>A; p.R412Q; 23:53411780-53411780	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1276C>T; p.R426W; 23:53409482-53409482	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1913C>A; p.T638K; 23:53405390-53405390	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1535C>A; p.P512H; 23:53409072-53409072	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1216C>T; p.R406C; 23:53411799-53411799	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1295A>C; p.Q432P; 23:53409463-53409463	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.2266C>T; p.Q756*; 23:53403824-53403824	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.2398C>G; p.Q800E; 23:53403588-53403588	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2266C>T; p.Q756*; 23:53403824-53403824	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.421G>A; p.E141K; 23:53413426-53413426	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3248A>G; p.E1083G; 23:53382543-53382543	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1744G>T; p.D582Y; 23:53405660-53405660	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1167G>A; p.L389L; 23:53411848-53411848	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1344C>T; p.S448S; 23:53409263-53409263	skin	malignant_melanoma	Substitution - coding silent
c.686A>C; p.Y229S; 23:53413068-53413068	skin	malignant_melanoma	Substitution - Missense
c.1461C>T; p.A487A; 23:53409146-53409146	skin	malignant_melanoma	Substitution - coding silent
c.2561A>G; p.K854R; 23:53399590-53399590	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.907G>A; p.E303K; 23:53412201-53412201	urinary_tract; bladder	carcinoma	Substitution - Missense
c.907G>A; p.E303K; 23:53412201-53412201	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.421G>C; p.E141Q; 23:53413426-53413426	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3449C>T; p.A1150V; 23:53381076-53381076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2517G>A; p.E839E; 23:53399634-53399634	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1877G>A; p.R626H; 23:53405527-53405527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1877G>A; p.R626H; 23:53405527-53405527	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1877G>A; p.R626H; 23:53405527-53405527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.793G>C; p.E265Q; 23:53412961-53412961	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.873G>A; p.L291L; 23:53412235-53412235	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1254+1G>A; p.?; 23:53411760-53411760	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.1254+1G>A; p.?; 23:53411760-53411760	urinary_tract; bladder	carcinoma	Unknown
c.1990C>T; p.R664W; 23:53405313-53405313	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3264G>T; p.L1088L; 23:53382527-53382527	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1377G>A; p.L459L; 23:53409230-53409230	pancreas	carcinoma	Substitution - coding silent
c.169C>T; p.R57W; 23:53415110-53415110	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2684G>A; p.R895H; 23:53396496-53396496	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2684G>A; p.R895H; 23:53396496-53396496	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1300C>T; p.R434W; 23:53409458-53409458	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1548C>T; p.Y516Y; 23:53405954-53405954	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1300C>T; p.R434W; 23:53409458-53409458	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.638A>G; p.K213R; 23:53413116-53413116	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3655G>A; p.D1219N; 23:53380150-53380150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2538A>G; p.E846E; 23:53399613-53399613	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1375C>T; p.L459L; 23:53409232-53409232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2463G>A; p.L821L; 23:53399688-53399688	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2390T>G; p.V797G; 23:53403596-53403596	breast	carcinoma	Substitution - Missense
c.3530A>G; p.Q1177R; 23:53380708-53380708	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2446C>G; p.R816G; 23:53399705-53399705	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.3609C>G; p.V1203V; 23:53380629-53380629	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1277G>A; p.R426Q; 23:53409481-53409481	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1526G>A; p.R509H; 23:53409081-53409081	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3556G>A; p.V1186I; 23:53380682-53380682	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1880G>A; p.R627H; 23:53405524-53405524	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.586C>T; p.R196C; 23:53413261-53413261	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3268C>T; p.R1090C; 23:53382523-53382523	skin	malignant_melanoma	Substitution - Missense
c.552T>G; p.F184L; 23:53413295-53413295	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2795_2796CC>AT; p.A932D; 23:53396293-53396294	breast	carcinoma	Substitution - Missense
c.1935A>T; p.L645L; 23:53405368-53405368	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3429C>A; p.A1143A; 23:53382240-53382240	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2956C>T; p.L986L; 23:53394795-53394795	skin	malignant_melanoma	Substitution - coding silent
c.2400G>T; p.Q800H; 23:53403586-53403586	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2059G>T; p.E687*; 23:53405149-53405149	kidney	other; neoplasm	Substitution - Nonsense
c.2559A>C; p.K853N; 23:53399592-53399592	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2559A>C; p.K853N; 23:53399592-53399592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.363A>T; p.L121F; 23:53414806-53414806	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.544A>G; p.T182A; 23:53413303-53413303	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3592G>A; p.E1198K; 23:53380646-53380646	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.3592G>A; p.E1198K; 23:53380646-53380646	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2447G>A; p.R816H; 23:53399704-53399704	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3299C>A; p.P1100H; 23:53382370-53382370	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2460G>A; p.Q820Q; 23:53399691-53399691	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2239C>T; p.R747C; 23:53403851-53403851	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.861G>A; p.K287K; 23:53412247-53412247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3298C>G; p.P1100A; 23:53382371-53382371	liver	carcinoma	Substitution - Missense
c.1107G>T; p.E369D; 23:53412001-53412001	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2095C>T; p.R699C; 23:53405113-53405113	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1018_1020delATG; p.M340delM; 23:53412088-53412090	NS	NS	Deletion - In frame
c.1057C>T; p.R353W; 23:53412051-53412051	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1057C>T; p.R353W; 23:53412051-53412051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.746T>C; p.I249T; 23:53413008-53413008	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1025C>T; p.S342L; 23:53412083-53412083	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2240G>A; p.R747H; 23:53403850-53403850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2313G>C; p.Q771H; 23:53403777-53403777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1329C>A; p.T443T; 23:53409429-53409429	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1881C>T; p.R627R; 23:53405523-53405523	breast	carcinoma	Substitution - coding silent
c.1525C>T; p.R509C; 23:53409082-53409082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1329C>G; p.T443T; 23:53409429-53409429	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.809T>G; p.L270R; 23:53412945-53412945	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.884G>A; p.R295Q; 23:53412224-53412224	breast	carcinoma	Substitution - Missense
c.2132G>T; p.R711L; 23:53405076-53405076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1069G>A; p.E357K; 23:53412039-53412039	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1327A>G; p.T443A; 23:53409431-53409431	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.563G>A; p.R188H; 23:53413284-53413284	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.563G>A; p.R188H; 23:53413284-53413284	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.563G>A; p.R188H; 23:53413284-53413284	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2801A>G; p.K934R; 23:53396288-53396288	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.650T>A; p.V217E; 23:53413104-53413104	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.761A>G; p.K254R; 23:53412993-53412993	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2470G>C; p.E824Q; 23:53399681-53399681	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3386C>T; p.S1129L; 23:53382283-53382283	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1524G>A; p.K508K; 23:53409083-53409083	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2456T>A; p.I819N; 23:53399695-53399695	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2456T>A; p.I819N; 23:53399695-53399695	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.1211A>G; p.Q404R; 23:53411804-53411804	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3556G>C; p.V1186L; 23:53380682-53380682	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2870C>T; p.S957F; 23:53394881-53394881	skin	malignant_melanoma	Substitution - Missense
c.3196C>T; p.R1066C; 23:53382595-53382595	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3196C>T; p.R1066C; 23:53382595-53382595	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.854+1G>A; p.?; 23:53412899-53412899	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2714T>A; p.M905K; 23:53396375-53396375	breast	carcinoma	Substitution - Missense
c.2878_2879insG; p.E960fs*21; 23:53394872-53394873	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.459T>C; p.A153A; 23:53413388-53413388	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1472G>A; p.R491H; 23:53409135-53409135	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1757G>A; p.R586Q; 23:53405647-53405647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.533C>T; p.A178V; 23:53413314-53413314	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.533C>T; p.A178V; 23:53413314-53413314	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1592A>T; p.Q531L; 23:53405910-53405910	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2131C>T; p.R711W; 23:53405077-53405077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2131C>T; p.R711W; 23:53405077-53405077	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1463G>A; p.R488H; 23:53409144-53409144	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2131C>T; p.R711W; 23:53405077-53405077	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2795C>A; p.A932D; 23:53396294-53396294	breast	carcinoma	Substitution - Missense
c.1592A>T; p.Q531L; 23:53405910-53405910	urinary_tract; bladder	carcinoma	Substitution - Missense
c.914C>A; p.T305N; 23:53412194-53412194	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.868G>C; p.E290Q; 23:53412240-53412240	breast	carcinoma	Substitution - Missense
c.3263T>C; p.L1088P; 23:53382528-53382528	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2750C>A; p.T917N; 23:53396339-53396339	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2317G>A; p.E773K; 23:53403669-53403669	pancreas	carcinoma	Substitution - Missense
c.2275G>C; p.E759Q; 23:53403815-53403815	breast	carcinoma	Substitution - Missense
c.2077C>T; p.R693W; 23:53405131-53405131	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2317G>A; p.E773K; 23:53403669-53403669	pancreas	carcinoma	Substitution - Missense
c.1486C>T; p.R496C; 23:53409121-53409121	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.386A>G; p.K129R; 23:53414783-53414783	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3084G>A; p.M1028I; 23:53383143-53383143	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2695G>A; p.G899R; 23:53396485-53396485	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.495G>C; p.A165A; 23:53413352-53413352	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.3598C>A; p.L1200I; 23:53380640-53380640	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1910A>G; p.K637R; 23:53405494-53405494	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1434C>T; p.N478N; 23:53409173-53409173	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2911A>G; p.S971G; 23:53394840-53394840	haematopoietic_and_lymphoid_tissue; pharynx	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2796C>T; p.A932A; 23:53396293-53396293	breast	carcinoma	Substitution - coding silent
c.2368C>T; p.R790W; 23:53403618-53403618	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2796C>G; p.A932A; 23:53396293-53396293	pancreas	carcinoma	Substitution - coding silent
c.2701G>A; p.A901T; 23:53396479-53396479	liver	carcinoma	Substitution - Missense
c.3461T>A; p.V1154D; 23:53381064-53381064	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1941G>T; p.Q647H; 23:53405362-53405362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1329C>T; p.T443T; 23:53409429-53409429	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2685T>C; p.R895R; 23:53396495-53396495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.249C>T; p.V83V; 23:53415030-53415030	breast	carcinoma	Substitution - coding silent
c.2096G>A; p.R699H; 23:53405112-53405112	prostate	adenoma	Substitution - Missense
c.1162A>G; p.T388A; 23:53411853-53411853	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2106G>C; p.Q702H; 23:53405102-53405102	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3334A>G; p.N1112D; 23:53382335-53382335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.495G>A; p.A165A; 23:53413352-53413352	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.567G>C; p.K189N; 23:53413280-53413280	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2563G>T; p.E855*; 23:53396617-53396617	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense

The somatic mutations from COSMIC database