lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	54809
Symbol	SAMD9
Synonymous	C7orf5\|DRIF1\|NFTC\|OEF1\|OEF2
Full name	sterile alpha motif domain containing 9
Gene description	SAM domain-containing protein 9\|expressed in aggressive fibromatosis\|sterile alpha motif domain-containing protein 9
Cytoband	7q21.2
Gene type	protein-coding
Synonymous	MIM:610456; HGNC:HGNC:1348; Ensembl:ENSG00000205413; HPRD:11531; Vega:OTTHUMG00000155809

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.47A>T; p.K16I; 7:93106051-93106051	skin	malignant_melanoma	Substitution - Missense
c.3298G>A; p.G1100S; 7:93102800-93102800	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4653A>G; p.I1551M; 7:93101445-93101445	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2991_2993delGAA; p.K998delK; 7:93103105-93103107	pancreas	carcinoma; acinar_carcinoma	Deletion - In frame
c.2276G>C; p.R759T; 7:93103822-93103822	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1349G>T; p.G450V; 7:93104749-93104749	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.908T>G; p.F303C; 7:93105190-93105190	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3010A>T; p.K1004*; 7:93103088-93103088	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2156A>C; p.Q719P; 7:93103942-93103942	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.628G>T; p.D210Y; 7:93105470-93105470	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1058C>T; p.T353M; 7:93105040-93105040	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1058C>T; p.T353M; 7:93105040-93105040	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1262A>G; p.H421R; 7:93104836-93104836	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1058C>T; p.T353M; 7:93105040-93105040	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3976C>T; p.P1326S; 7:93102122-93102122	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.820G>A; p.D274N; 7:93105278-93105278	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2815G>A; p.E939K; 7:93103283-93103283	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2933A>G; p.Y978C; 7:93103165-93103165	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1223C>T; p.S408L; 7:93104875-93104875	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2053C>T; p.R685*; 7:93104045-93104045	skin	malignant_melanoma	Substitution - Nonsense
c.2353G>T; p.A785S; 7:93103745-93103745	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1223C>T; p.S408L; 7:93104875-93104875	skin	malignant_melanoma	Substitution - Missense
c.549T>C; p.P183P; 7:93105549-93105549	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.845A>T; p.K282M; 7:93105253-93105253	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1843A>T; p.N615Y; 7:93104255-93104255	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2053C>T; p.R685*; 7:93104045-93104045	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4317C>A; p.F1439L; 7:93101781-93101781	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1856T>G; p.L619R; 7:93104242-93104242	liver	carcinoma	Substitution - Missense
c.3840C>T; p.P1280P; 7:93102258-93102258	skin	malignant_melanoma	Substitution - coding silent
c.2111C>T; p.P704L; 7:93103987-93103987	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1483A>C; p.N495H; 7:93104615-93104615	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2977C>T; p.L993L; 7:93103121-93103121	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2620G>T; p.E874*; 7:93103478-93103478	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2961G>T; p.L987F; 7:93103137-93103137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4704G>A; p.E1568E; 7:93101394-93101394	skin	malignant_melanoma	Substitution - coding silent
c.3036A>G; p.L1012L; 7:93103062-93103062	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2395G>C; p.D799H; 7:93103703-93103703	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.579G>A; p.P193P; 7:93105519-93105519	skin	malignant_melanoma	Substitution - coding silent
c.2941G>T; p.V981L; 7:93103157-93103157	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.375G>A; p.P125P; 7:93105723-93105723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3701G>A; p.G1234E; 7:93102397-93102397	skin	malignant_melanoma	Substitution - Missense
c.4391T>C; p.F1464S; 7:93101707-93101707	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4120G>T; p.E1374*; 7:93101978-93101978	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2795C>G; p.T932S; 7:93103303-93103303	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4241A>T; p.Q1414L; 7:93101857-93101857	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4253T>A; p.V1418D; 7:93101845-93101845	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.245C>T; p.S82L; 7:93105853-93105853	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.245C>T; p.S82L; 7:93105853-93105853	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1014_1015insA; p.F339fs*12; 7:93105083-93105084	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4750T>A; p.Y1584N; 7:93101348-93101348	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1037G>T; p.G346V; 7:93105061-93105061	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3938C>T; p.S1313L; 7:93102160-93102160	skin	malignant_melanoma	Substitution - Missense
c.3805G>A; p.D1269N; 7:93102293-93102293	skin	malignant_melanoma	Substitution - Missense
c.3012_3013insT; p.S1005fs*1; 7:93103085-93103086	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.374C>T; p.P125L; 7:93105724-93105724	skin	malignant_melanoma	Substitution - Missense
c.374C>T; p.P125L; 7:93105724-93105724	prostate	carcinoma	Substitution - Missense
c.484G>C; p.V162L; 7:93105614-93105614	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2811G>T; p.Q937H; 7:93103287-93103287	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2470C>T; p.R824*; 7:93103628-93103628	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1761A>C; p.K587N; 7:93104337-93104337	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3011A>T; p.K1004I; 7:93103087-93103087	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.898T>G; p.S300A; 7:93105200-93105200	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1531A>C; p.S511R; 7:93104567-93104567	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2071T>G; p.W691G; 7:93104027-93104027	NS	malignant_melanoma	Substitution - Missense
c.2751C>T; p.L917L; 7:93103347-93103347	skin	malignant_melanoma	Substitution - coding silent
c.3402G>A; p.W1134*; 7:93102696-93102696	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1449A>G; p.L483L; 7:93104649-93104649	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1041_1053del13; p.S348fs*47; 7:93105045-93105057	breast	carcinoma; basal_(triple-negative)_carcinoma	Deletion - Frameshift
c.4388C>A; p.S1463Y; 7:93101710-93101710	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4388C>A; p.S1463Y; 7:93101710-93101710	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4388C>A; p.S1463Y; 7:93101710-93101710	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2537G>A; p.R846K; 7:93103561-93103561	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4388C>A; p.S1463Y; 7:93101710-93101710	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.545_546AG>CC; p.Q182>?; 7:93105552-93105553	lung	carcinoma; adenocarcinoma	Complex
c.3784T>G; p.F1262V; 7:93102314-93102314	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2167G>C; p.D723H; 7:93103931-93103931	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1376G>T; p.R459L; 7:93104722-93104722	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3051C>A; p.F1017L; 7:93103047-93103047	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4102G>A; p.E1368K; 7:93101996-93101996	skin	malignant_melanoma	Substitution - Missense
c.4102G>A; p.E1368K; 7:93101996-93101996	skin	malignant_melanoma	Substitution - Missense
c.4102G>A; p.E1368K; 7:93101996-93101996	skin	malignant_melanoma	Substitution - Missense
c.4102G>A; p.E1368K; 7:93101996-93101996	skin; arm	malignant_melanoma	Substitution - Missense
c.4302A>G; p.L1434L; 7:93101796-93101796	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3126A>G; p.E1042E; 7:93102972-93102972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3996C>G; p.C1332W; 7:93102102-93102102	breast	carcinoma	Substitution - Missense
c.1301T>G; p.I434S; 7:93104797-93104797	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1675A>T; p.T559S; 7:93104423-93104423	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.617C>T; p.A206V; 7:93105481-93105481	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3825T>C; p.F1275F; 7:93102273-93102273	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3825T>C; p.F1275F; 7:93102273-93102273	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4271T>C; p.L1424P; 7:93101827-93101827	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2855G>C; p.G952A; 7:93103243-93103243	skin	malignant_melanoma	Substitution - Missense
c.4487G>A; p.G1496E; 7:93101611-93101611	skin	malignant_melanoma	Substitution - Missense
c.170T>C; p.M57T; 7:93105928-93105928	ovary	other; neoplasm	Substitution - Missense
c.4487G>A; p.G1496E; 7:93101611-93101611	skin; mucosal	malignant_melanoma	Substitution - Missense
c.853C>T; p.R285*; 7:93105245-93105245	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.853C>T; p.R285*; 7:93105245-93105245	skin	malignant_melanoma	Substitution - Nonsense
c.853C>T; p.R285*; 7:93105245-93105245	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3788C>A; p.S1263Y; 7:93102310-93102310	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2274C>T; p.F758F; 7:93103824-93103824	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.105T>A; p.I35I; 7:93105993-93105993	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.853C>T; p.R285*; 7:93105245-93105245	pancreas	carcinoma	Substitution - Nonsense
c.1140C>T; p.F380F; 7:93104958-93104958	skin	malignant_melanoma	Substitution - coding silent
c.3012A>T; p.K1004N; 7:93103086-93103086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4392C>G; p.F1464L; 7:93101706-93101706	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.639G>A; p.M213I; 7:93105459-93105459	skin	malignant_melanoma	Substitution - Missense
c.2151G>A; p.M717I; 7:93103947-93103947	skin	malignant_melanoma	Substitution - Missense
c.1590T>C; p.H530H; 7:93104508-93104508	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3350C>A; p.S1117Y; 7:93102748-93102748	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4743A>G; p.P1581P; 7:93101355-93101355	liver	carcinoma	Substitution - coding silent
c.3458T>A; p.L1153*; 7:93102640-93102640	kidney	other; neoplasm	Substitution - Nonsense
c.2880G>T; p.M960I; 7:93103218-93103218	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1630C>T; p.L544L; 7:93104468-93104468	skin	malignant_melanoma	Substitution - coding silent
c.1226A>G; p.Y409C; 7:93104872-93104872	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3988G>A; p.E1330K; 7:93102110-93102110	skin	malignant_melanoma	Substitution - Missense
c.4765G>C; p.V1589L; 7:93101333-93101333	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2704C>T; p.R902W; 7:93103394-93103394	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4573G>C; p.E1525Q; 7:93101525-93101525	pancreas	carcinoma	Substitution - Missense
c.1432G>T; p.E478*; 7:93104666-93104666	skin	malignant_melanoma	Substitution - Nonsense
c.2827G>A; p.G943R; 7:93103271-93103271	skin	malignant_melanoma	Substitution - Missense
c.2139A>G; p.R713R; 7:93103959-93103959	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3847A>G; p.N1283D; 7:93102251-93102251	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2139A>G; p.R713R; 7:93103959-93103959	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.661C>T; p.R221*; 7:93105437-93105437	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1437G>A; p.T479T; 7:93104661-93104661	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1437G>A; p.T479T; 7:93104661-93104661	skin	malignant_melanoma	Substitution - coding silent
c.4108A>G; p.T1370A; 7:93101990-93101990	breast	carcinoma	Substitution - Missense
c.2633A>C; p.N878T; 7:93103465-93103465	pancreas	carcinoma	Substitution - Missense
c.281delA; p.N94fs*35; 7:93105817-93105817	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3624C>A; p.I1208I; 7:93102474-93102474	skin	malignant_melanoma	Substitution - coding silent
c.2521C>A; p.P841T; 7:93103577-93103577	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3424G>A; p.G1142R; 7:93102674-93102674	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1651G>T; p.D551Y; 7:93104447-93104447	liver	carcinoma	Substitution - Missense
c.4635C>G; p.I1545M; 7:93101463-93101463	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1651G>T; p.D551Y; 7:93104447-93104447	liver	carcinoma	Substitution - Missense
c.246G>A; p.S82S; 7:93105852-93105852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2209C>T; p.H737Y; 7:93103889-93103889	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2578A>T; p.K860*; 7:93103520-93103520	kidney	other; neoplasm	Substitution - Nonsense
c.1563C>T; p.V521V; 7:93104535-93104535	breast	carcinoma	Substitution - coding silent
c.4155G>T; p.K1385N; 7:93101943-93101943	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1577C>T; p.S526L; 7:93104521-93104521	breast	carcinoma	Substitution - Missense
c.1959A>G; p.E653E; 7:93104139-93104139	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4160A>T; p.N1387I; 7:93101938-93101938	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4759G>A; p.E1587K; 7:93101339-93101339	skin	malignant_melanoma	Substitution - Missense
c.3120_3121ins20; p.D1041fs*70; 7:93102977-93102978	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.1555T>C; p.S519P; 7:93104543-93104543	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1727T>G; p.I576S; 7:93104371-93104371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3625C>T; p.Q1209*; 7:93102473-93102473	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2231C>G; p.T744S; 7:93103867-93103867	breast	carcinoma	Substitution - Missense
c.4529C>T; p.S1510F; 7:93101569-93101569	skin	malignant_melanoma	Substitution - Missense
c.2965G>A; p.A989T; 7:93103133-93103133	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3132A>T; p.E1044D; 7:93102966-93102966	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4529C>T; p.S1510F; 7:93101569-93101569	skin	malignant_melanoma	Substitution - Missense
c.2838C>T; p.N946N; 7:93103260-93103260	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1744A>G; p.I582V; 7:93104354-93104354	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.662G>C; p.R221P; 7:93105436-93105436	skin	malignant_melanoma	Substitution - Missense
c.3764C>T; p.P1255L; 7:93102334-93102334	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4125A>T; p.Q1375H; 7:93101973-93101973	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3764C>T; p.P1255L; 7:93102334-93102334	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3287A>G; p.K1096R; 7:93102811-93102811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1739C>T; p.P580L; 7:93104359-93104359	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3287A>G; p.K1096R; 7:93102811-93102811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1199G>A; p.G400E; 7:93104899-93104899	skin	malignant_melanoma	Substitution - Missense
c.946T>A; p.C316S; 7:93105152-93105152	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4733T>C; p.I1578T; 7:93101365-93101365	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.922G>A; p.D308N; 7:93105176-93105176	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.706C>T; p.H236Y; 7:93105392-93105392	skin	malignant_melanoma	Substitution - Missense
c.3016C>A; p.Q1006K; 7:93103082-93103082	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3016C>A; p.Q1006K; 7:93103082-93103082	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3016C>A; p.Q1006K; 7:93103082-93103082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1566G>A; p.R522R; 7:93104532-93104532	skin	malignant_melanoma	Substitution - coding silent
c.3800C>T; p.S1267F; 7:93102298-93102298	skin	malignant_melanoma	Substitution - Missense
c.3653A>C; p.D1218A; 7:93102445-93102445	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1630C>A; p.L544I; 7:93104468-93104468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2373C>T; p.Y791Y; 7:93103725-93103725	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1404A>G; p.V468V; 7:93104694-93104694	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1630C>A; p.L544I; 7:93104468-93104468	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1630C>A; p.L544I; 7:93104468-93104468	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3604G>T; p.E1202*; 7:93102494-93102494	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2471G>C; p.R824P; 7:93103627-93103627	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4288G>A; p.E1430K; 7:93101810-93101810	skin	malignant_melanoma	Substitution - Missense
c.3643C>T; p.P1215S; 7:93102455-93102455	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3083delT; p.L1028fs*76; 7:93103015-93103015	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2294delA; p.N765fs*13; 7:93103804-93103804	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.218A>T; p.E73V; 7:93105880-93105880	breast	carcinoma	Substitution - Missense
c.2210A>G; p.H737R; 7:93103888-93103888	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2376A>G; p.V792V; 7:93103722-93103722	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.316C>T; p.R106C; 7:93105782-93105782	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3988G>C; p.E1330Q; 7:93102110-93102110	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1312G>A; p.A438T; 7:93104786-93104786	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3229C>T; p.R1077W; 7:93102869-93102869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.442G>A; p.D148N; 7:93105656-93105656	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4185C>A; p.L1395L; 7:93101913-93101913	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.960T>C; p.Y320Y; 7:93105138-93105138	thyroid	other; neoplasm	Substitution - coding silent
c.311A>T; p.K104M; 7:93105787-93105787	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.931C>T; p.P311S; 7:93105167-93105167	skin	malignant_melanoma	Substitution - Missense
c.1238A>G; p.Y413C; 7:93104860-93104860	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2425C>T; p.L809F; 7:93103673-93103673	skin	malignant_melanoma	Substitution - Missense
c.2844G>T; p.K948N; 7:93103254-93103254	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3278A>G; p.Y1093C; 7:93102820-93102820	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2893A>G; p.T965A; 7:93103205-93103205	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2844G>T; p.K948N; 7:93103254-93103254	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.98G>T; p.R33M; 7:93106000-93106000	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.98G>T; p.R33M; 7:93106000-93106000	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.976C>T; p.Q326*; 7:93105122-93105122	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2669C>A; p.T890N; 7:93103429-93103429	breast	carcinoma	Substitution - Missense
c.976C>T; p.Q326*; 7:93105122-93105122	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.3462T>G; p.D1154E; 7:93102636-93102636	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3188G>A; p.G1063E; 7:93102910-93102910	skin	malignant_melanoma	Substitution - Missense
c.1658G>A; p.R553K; 7:93104440-93104440	skin	malignant_melanoma	Substitution - Missense
c.2834G>A; p.G945E; 7:93103264-93103264	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2834G>A; p.G945E; 7:93103264-93103264	breast	carcinoma	Substitution - Missense
c.562G>T; p.G188C; 7:93105536-93105536	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2363G>A; p.R788H; 7:93103735-93103735	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.153delA; p.E52fs*16; 7:93105945-93105945	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3306T>C; p.A1102A; 7:93102792-93102792	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1868C>T; p.S623F; 7:93104230-93104230	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4297T>G; p.F1433V; 7:93101801-93101801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2380G>C; p.V794L; 7:93103718-93103718	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.676T>A; p.C226S; 7:93105422-93105422	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3620C>A; p.T1207K; 7:93102478-93102478	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3651_3652insT; p.D1218fs*1; 7:93102446-93102447	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1597A>T; p.I533L; 7:93104501-93104501	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3651_3652insT; p.D1218fs*1; 7:93102446-93102447	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3651_3652insT; p.D1218fs*1; 7:93102446-93102447	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Insertion - Frameshift
c.2138G>T; p.R713I; 7:93103960-93103960	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.595G>C; p.A199P; 7:93105503-93105503	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; non_functioning	Substitution - Missense
c.418G>T; p.V140F; 7:93105680-93105680	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1155T>A; p.N385K; 7:93104943-93104943	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.2764G>A; p.A922T; 7:93103334-93103334	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2557G>T; p.V853L; 7:93103541-93103541	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2312_2313insT; p.E772fs*1; 7:93103785-93103786	skin; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.3260C>T; p.A1087V; 7:93102838-93102838	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.872A>C; p.E291A; 7:93105226-93105226	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.517T>C; p.Y173H; 7:93105581-93105581	pancreas	carcinoma	Substitution - Missense
c.4266A>G; p.I1422M; 7:93101832-93101832	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3042G>A; p.E1014E; 7:93103056-93103056	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2720G>T; p.G907V; 7:93103378-93103378	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.107T>G; p.L36W; 7:93105991-93105991	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3631C>A; p.L1211I; 7:93102467-93102467	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1939G>T; p.D647Y; 7:93104159-93104159	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.119A>G; p.D40G; 7:93105979-93105979	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4246C>T; p.R1416*; 7:93101852-93101852	skin	malignant_melanoma	Substitution - Nonsense
c.4246C>T; p.R1416*; 7:93101852-93101852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3969C>T; p.F1323F; 7:93102129-93102129	skin	malignant_melanoma	Substitution - coding silent
c.3502C>T; p.Q1168*; 7:93102596-93102596	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4246C>T; p.R1416*; 7:93101852-93101852	breast	carcinoma	Substitution - Nonsense
c.4246C>T; p.R1416*; 7:93101852-93101852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2407G>A; p.E803K; 7:93103691-93103691	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1663C>T; p.P555S; 7:93104435-93104435	skin	malignant_melanoma	Substitution - Missense
c.1663C>T; p.P555S; 7:93104435-93104435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1663C>T; p.P555S; 7:93104435-93104435	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1868C>A; p.S623Y; 7:93104230-93104230	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4603G>A; p.E1535K; 7:93101495-93101495	skin	malignant_melanoma	Substitution - Missense
c.1868C>A; p.S623Y; 7:93104230-93104230	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3509G>C; p.S1170T; 7:93102589-93102589	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3269G>T; p.R1090I; 7:93102829-93102829	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1868C>A; p.S623Y; 7:93104230-93104230	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.978A>G; p.Q326Q; 7:93105120-93105120	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1093G>C; p.D365H; 7:93105005-93105005	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3237C>A; p.N1079K; 7:93102861-93102861	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1287T>A; p.D429E; 7:93104811-93104811	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1930A>G; p.K644E; 7:93104168-93104168	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4546G>T; p.D1516Y; 7:93101552-93101552	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1255A>G; p.K419E; 7:93104843-93104843	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2329G>A; p.V777I; 7:93103769-93103769	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2788G>A; p.D930N; 7:93103310-93103310	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.4001G>T; p.R1334I; 7:93102097-93102097	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4577T>G; p.L1526R; 7:93101521-93101521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3715C>T; p.P1239S; 7:93102383-93102383	skin	malignant_melanoma	Substitution - Missense
c.4730C>T; p.S1577F; 7:93101368-93101368	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4287A>T; p.S1429S; 7:93101811-93101811	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4730C>T; p.S1577F; 7:93101368-93101368	skin	malignant_melanoma	Substitution - Missense
c.932C>T; p.P311L; 7:93105166-93105166	skin	malignant_melanoma	Substitution - Missense
c.1031G>T; p.R344L; 7:93105067-93105067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3028G>T; p.D1010Y; 7:93103070-93103070	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4585C>T; p.R1529C; 7:93101513-93101513	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3164T>G; p.I1055S; 7:93102934-93102934	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.422A>T; p.E141V; 7:93105676-93105676	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2777C>A; p.S926*; 7:93103321-93103321	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4586G>T; p.R1529L; 7:93101512-93101512	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2284G>A; p.V762M; 7:93103814-93103814	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.2866T>G; p.F956V; 7:93103232-93103232	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3549G>A; p.P1183P; 7:93102549-93102549	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3413A>G; p.N1138S; 7:93102685-93102685	breast	carcinoma	Substitution - Missense
c.3549G>A; p.P1183P; 7:93102549-93102549	large_intestine; colon	NS	Substitution - coding silent
c.3877C>T; p.R1293W; 7:93102221-93102221	skin	malignant_melanoma	Substitution - Missense
c.2646T>G; p.F882L; 7:93103452-93103452	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2646T>G; p.F882L; 7:93103452-93103452	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2651C>T; p.S884F; 7:93103447-93103447	skin	malignant_melanoma	Substitution - Missense
c.983A>C; p.Y328S; 7:93105115-93105115	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4725_4726insA; p.F1576fs*10; 7:93101372-93101373	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.675T>C; p.A225A; 7:93105423-93105423	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3119G>T; p.R1040L; 7:93102979-93102979	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1804T>G; p.S602A; 7:93104294-93104294	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.344A>G; p.K115R; 7:93105754-93105754	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3795A>C; p.K1265N; 7:93102303-93102303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3849T>C; p.N1283N; 7:93102249-93102249	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1630C>G; p.L544V; 7:93104468-93104468	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.873A>C; p.E291D; 7:93105225-93105225	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4039C>T; p.L1347F; 7:93102059-93102059	skin	malignant_melanoma	Substitution - Missense
c.1936G>A; p.E646K; 7:93104162-93104162	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2616C>T; p.I872I; 7:93103482-93103482	skin	malignant_melanoma	Substitution - coding silent
c.3801C>T; p.S1267S; 7:93102297-93102297	skin	malignant_melanoma	Substitution - coding silent
c.2919C>T; p.I973I; 7:93103179-93103179	stomach	adenocarcinoma	Substitution - coding silent
c.2919C>T; p.I973I; 7:93103179-93103179	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2919C>T; p.I973I; 7:93103179-93103179	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3373C>T; p.Q1125*; 7:93102725-93102725	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3067G>T; p.G1023*; 7:93103031-93103031	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2919C>T; p.I973I; 7:93103179-93103179	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1108G>T; p.A370S; 7:93104990-93104990	skin	malignant_melanoma	Substitution - Missense
c.4393A>G; p.K1465E; 7:93101705-93101705	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1390C>T; p.H464Y; 7:93104708-93104708	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.883C>A; p.P295T; 7:93105215-93105215	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1373G>T; p.S458I; 7:93104725-93104725	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1987A>G; p.T663A; 7:93104111-93104111	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3701G>T; p.G1234V; 7:93102397-93102397	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.559C>T; p.P187S; 7:93105539-93105539	skin	malignant_melanoma	Substitution - Missense
c.1953T>C; p.A651A; 7:93104145-93104145	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1953T>C; p.A651A; 7:93104145-93104145	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3119G>A; p.R1040H; 7:93102979-93102979	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.662G>T; p.R221L; 7:93105436-93105436	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3119G>A; p.R1040H; 7:93102979-93102979	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1909T>G; p.L637V; 7:93104189-93104189	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4164C>T; p.F1388F; 7:93101934-93101934	skin	malignant_melanoma	Substitution - coding silent
c.4164C>T; p.F1388F; 7:93101934-93101934	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3700G>T; p.G1234*; 7:93102398-93102398	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.521G>A; p.R174H; 7:93105577-93105577	breast	carcinoma	Substitution - Missense
c.3055G>A; p.D1019N; 7:93103043-93103043	skin	malignant_melanoma	Substitution - Missense
c.3055G>A; p.D1019N; 7:93103043-93103043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3535G>A; p.E1179K; 7:93102563-93102563	skin	malignant_melanoma	Substitution - Missense
c.1509A>C; p.E503D; 7:93104589-93104589	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2240C>T; p.A747V; 7:93103858-93103858	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2524G>A; p.E842K; 7:93103574-93103574	skin	malignant_melanoma	Substitution - Missense
c.3503A>C; p.Q1168P; 7:93102595-93102595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.666T>G; p.F222L; 7:93105432-93105432	skin	malignant_melanoma	Substitution - Missense
c.2375T>G; p.V792G; 7:93103723-93103723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4428A>G; p.Q1476Q; 7:93101670-93101670	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1447C>G; p.L483V; 7:93104651-93104651	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4270C>A; p.L1424M; 7:93101828-93101828	skin	malignant_melanoma	Substitution - Missense
c.334C>T; p.Q112*; 7:93105764-93105764	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.854G>A; p.R285Q; 7:93105244-93105244	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.854G>A; p.R285Q; 7:93105244-93105244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.488C>T; p.S163L; 7:93105610-93105610	skin	malignant_melanoma	Substitution - Missense
c.3563G>A; p.R1188Q; 7:93102535-93102535	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.357C>T; p.N119N; 7:93105741-93105741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1617T>C; p.F539F; 7:93104481-93104481	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3636G>A; p.Q1212Q; 7:93102462-93102462	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.951A>G; p.Q317Q; 7:93105147-93105147	liver	carcinoma	Substitution - coding silent
c.2016C>T; p.F672F; 7:93104082-93104082	skin	malignant_melanoma	Substitution - coding silent
c.951A>G; p.Q317Q; 7:93105147-93105147	liver	carcinoma	Substitution - coding silent
c.2105C>A; p.S702Y; 7:93103993-93103993	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1025T>C; p.F342S; 7:93105073-93105073	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.3962C>T; p.S1321L; 7:93102136-93102136	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2114T>C; p.F705S; 7:93103984-93103984	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2105C>A; p.S702Y; 7:93103993-93103993	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3478T>A; p.S1160T; 7:93102620-93102620	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3962C>T; p.S1321L; 7:93102136-93102136	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1607G>A; p.R536K; 7:93104491-93104491	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2105C>A; p.S702Y; 7:93103993-93103993	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3962C>T; p.S1321L; 7:93102136-93102136	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2171C>A; p.S724Y; 7:93103927-93103927	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2352G>T; p.G784G; 7:93103746-93103746	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4194C>T; p.I1398I; 7:93101904-93101904	skin	malignant_melanoma	Substitution - coding silent
c.3677G>C; p.R1226T; 7:93102421-93102421	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.301G>A; p.V101M; 7:93105797-93105797	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3120C>T; p.R1040R; 7:93102978-93102978	liver	carcinoma	Substitution - coding silent
c.4639G>A; p.E1547K; 7:93101459-93101459	skin	malignant_melanoma	Substitution - Missense
c.335A>G; p.Q112R; 7:93105763-93105763	skin	malignant_melanoma	Substitution - Missense
c.2990A>T; p.K997M; 7:93103108-93103108	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.520C>T; p.R174C; 7:93105578-93105578	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.520C>T; p.R174C; 7:93105578-93105578	skin	malignant_melanoma	Substitution - Missense
c.750C>T; p.I250I; 7:93105348-93105348	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3522G>A; p.E1174E; 7:93102576-93102576	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3554C>G; p.S1185*; 7:93102544-93102544	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.3261G>A; p.A1087A; 7:93102837-93102837	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.1951G>A; p.A651T; 7:93104147-93104147	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3261G>A; p.A1087A; 7:93102837-93102837	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - coding silent
c.3763C>T; p.P1255S; 7:93102335-93102335	skin	malignant_melanoma	Substitution - Missense
c.3763C>T; p.P1255S; 7:93102335-93102335	skin	malignant_melanoma	Substitution - Missense
c.2905A>C; p.K969Q; 7:93103193-93103193	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.459G>A; p.R153R; 7:93105639-93105639	skin	malignant_melanoma	Substitution - coding silent
c.3088G>A; p.D1030N; 7:93103010-93103010	skin; neck	malignant_melanoma	Substitution - Missense
c.1320G>T; p.L440F; 7:93104778-93104778	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.195T>G; p.I65M; 7:93105903-93105903	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3663T>C; p.N1221N; 7:93102435-93102435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1320G>T; p.L440F; 7:93104778-93104778	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4134C>A; p.V1378V; 7:93101964-93101964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4646_4647insT; p.T1550fs*13; 7:93101451-93101452	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.3658A>G; p.K1220E; 7:93102440-93102440	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4561G>A; p.E1521K; 7:93101537-93101537	skin	malignant_melanoma	Substitution - Missense
c.3155C>T; p.S1052F; 7:93102943-93102943	skin	malignant_melanoma	Substitution - Missense
c.3125A>G; p.E1042G; 7:93102973-93102973	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3155C>T; p.S1052F; 7:93102943-93102943	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3155C>T; p.S1052F; 7:93102943-93102943	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4307C>T; p.S1436F; 7:93101791-93101791	skin	malignant_melanoma	Substitution - Missense
c.4684A>C; p.R1562R; 7:93101414-93101414	liver	carcinoma	Substitution - coding silent
c.1000G>A; p.E334K; 7:93105098-93105098	skin	malignant_melanoma	Substitution - Missense
c.2073G>A; p.W691*; 7:93104025-93104025	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Nonsense
c.2953C>T; p.H985Y; 7:93103145-93103145	breast	carcinoma	Substitution - Missense
c.3259G>T; p.A1087S; 7:93102839-93102839	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.108G>A; p.L36L; 7:93105990-93105990	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2588G>T; p.R863I; 7:93103510-93103510	liver	carcinoma	Substitution - Missense
c.2588G>T; p.R863I; 7:93103510-93103510	liver	carcinoma	Substitution - Missense
c.2622A>G; p.E874E; 7:93103476-93103476	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.574G>C; p.D192H; 7:93105524-93105524	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3286A>T; p.K1096*; 7:93102812-93102812	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.3955C>A; p.L1319I; 7:93102143-93102143	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1059G>A; p.T353T; 7:93105039-93105039	skin	malignant_melanoma	Substitution - coding silent
c.3955C>A; p.L1319I; 7:93102143-93102143	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1059G>A; p.T353T; 7:93105039-93105039	skin	malignant_melanoma	Substitution - coding silent
c.806A>G; p.N269S; 7:93105292-93105292	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2117T>A; p.V706D; 7:93103981-93103981	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3414C>T; p.N1138N; 7:93102684-93102684	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3414C>T; p.N1138N; 7:93102684-93102684	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.686C>T; p.S229L; 7:93105412-93105412	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3801C>A; p.S1267S; 7:93102297-93102297	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.433G>T; p.D145Y; 7:93105665-93105665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.686C>T; p.S229L; 7:93105412-93105412	skin	malignant_melanoma	Substitution - Missense
c.1207G>T; p.D403Y; 7:93104891-93104891	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.287C>T; p.P96L; 7:93105811-93105811	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2388C>A; p.L796L; 7:93103710-93103710	breast	carcinoma	Substitution - coding silent
c.287C>T; p.P96L; 7:93105811-93105811	skin	malignant_melanoma	Substitution - Missense
c.1207G>T; p.D403Y; 7:93104891-93104891	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2452A>G; p.I818V; 7:93103646-93103646	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1756T>C; p.W586R; 7:93104342-93104342	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1951G>T; p.A651S; 7:93104147-93104147	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3214C>T; p.L1072F; 7:93102884-93102884	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2860G>A; p.E954K; 7:93103238-93103238	skin	malignant_melanoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation