Entrez Gene

Basic Information
Gene ID	3977
Name	LIFR
Synonymous	leukemia inhibitory factor receptor alpha;LIFR;leukemia inhibitory factor receptor alpha
Definition	CD118 antigen\|LIF receptor\|leukemia inhibitory factor receptor
Position	5p13-p12
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 0.18.

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.196T>C; p.S66P; 5:38528787-38528787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1847C>T; p.S616L; 5:38496420-38496420	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1171G>A; p.E391K; 5:38506025-38506025	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1171G>A; p.E391K; 5:38506025-38506025	skin	malignant_melanoma	Substitution - Missense
c.1847C>T; p.S616L; 5:38496420-38496420	skin	malignant_melanoma	Substitution - Missense
c.29G>A; p.R10Q; 5:38530619-38530619	skin	malignant_melanoma	Substitution - Missense
c.1171G>A; p.E391K; 5:38506025-38506025	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1373A>C; p.N458T; 5:38504040-38504040	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1992G>A; p.S664S; 5:38493679-38493679	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2128C>T; p.Q710*; 5:38490229-38490229	breast	carcinoma	Substitution - Nonsense
c.78C>T; p.F26F; 5:38530570-38530570	skin	malignant_melanoma	Substitution - coding silent
c.1992G>A; p.S664S; 5:38493679-38493679	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1992G>A; p.S664S; 5:38493679-38493679	breast	carcinoma	Substitution - coding silent
c.15C>T; p.Y5Y; 5:38530633-38530633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2806C>T; p.R936C; 5:38482083-38482083	skin	malignant_melanoma	Substitution - Missense
c.2806C>T; p.R936C; 5:38482083-38482083	skin	malignant_melanoma	Substitution - Missense
c.2806C>T; p.R936C; 5:38482083-38482083	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1179T>A; p.Y393*; 5:38506017-38506017	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2710A>G; p.T904A; 5:38482179-38482179	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1672-1G>A; p.?; 5:38496596-38496596	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2074C>T; p.R692*; 5:38490283-38490283	skin	malignant_melanoma	Substitution - Nonsense
c.976G>A; p.V326I; 5:38510479-38510479	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.820C>G; p.Q274E; 5:38510635-38510635	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.146C>A; p.A49D; 5:38528837-38528837	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3197G>A; p.R1066Q; 5:38481692-38481692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1148A>G; p.K383R; 5:38506048-38506048	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2795G>A; p.R932H; 5:38482094-38482094	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2368G>A; p.D790N; 5:38485948-38485948	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1095T>C; p.R365R; 5:38506529-38506529	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1427T>C; p.V476A; 5:38503986-38503986	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2138G>A; p.R713H; 5:38490219-38490219	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1789C>T; p.R597*; 5:38496478-38496478	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.515G>T; p.W172L; 5:38523465-38523465	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1789C>T; p.R597*; 5:38496478-38496478	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1789C>T; p.R597*; 5:38496478-38496478	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1333A>C; p.N445H; 5:38504080-38504080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.515G>T; p.W172L; 5:38523465-38523465	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2932C>G; p.Q978E; 5:38481957-38481957	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1788A>G; p.I596M; 5:38496479-38496479	liver	carcinoma	Substitution - Missense
c.1528C>T; p.R510C; 5:38502709-38502709	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.385G>T; p.E129*; 5:38527167-38527167	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1528C>T; p.R510C; 5:38502709-38502709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1528C>T; p.R510C; 5:38502709-38502709	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.189G>A; p.W63*; 5:38528794-38528794	skin	malignant_melanoma	Substitution - Nonsense
c.1528C>T; p.R510C; 5:38502709-38502709	skin	malignant_melanoma	Substitution - Missense
c.829G>A; p.V277M; 5:38510626-38510626	skin	malignant_melanoma	Substitution - Missense
c.462C>T; p.Y154Y; 5:38523518-38523518	skin	malignant_melanoma	Substitution - coding silent
c.337A>C; p.N113H; 5:38527215-38527215	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.337A>C; p.N113H; 5:38527215-38527215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.337A>C; p.N113H; 5:38527215-38527215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2727G>A; p.E909E; 5:38482162-38482162	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2477A>T; p.Y826F; 5:38485839-38485839	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1431A>C; p.Q477H; 5:38503982-38503982	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1529G>A; p.R510H; 5:38502708-38502708	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.628C>T; p.P210S; 5:38511898-38511898	skin	malignant_melanoma	Substitution - Missense
c.790G>A; p.G264S; 5:38510665-38510665	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.177T>G; p.N59K; 5:38528806-38528806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.404T>A; p.I135N; 5:38523576-38523576	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2660G>A; p.S887N; 5:38482599-38482599	skin	malignant_melanoma	Substitution - Missense
c.2850T>C; p.C950C; 5:38482039-38482039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2217G>A; p.S739S; 5:38489196-38489196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2620C>T; p.P874S; 5:38482639-38482639	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.716G>T; p.S239I; 5:38511810-38511810	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1582C>T; p.H528Y; 5:38502655-38502655	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2620C>T; p.P874S; 5:38482639-38482639	skin	malignant_melanoma	Substitution - Missense
c.2217G>A; p.S739S; 5:38489196-38489196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1582C>T; p.H528Y; 5:38502655-38502655	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1121G>T; p.S374I; 5:38506503-38506503	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1687G>T; p.E563*; 5:38496580-38496580	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3028A>C; p.N1010H; 5:38481861-38481861	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1343C>A; p.A448D; 5:38504070-38504070	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.542G>C; p.S181T; 5:38523438-38523438	central_nervous_system; brain	glioma	Substitution - Missense
c.1153G>T; p.A385S; 5:38506043-38506043	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3248G>A; p.G1083E; 5:38481641-38481641	skin	malignant_melanoma	Substitution - Missense
c.542G>C; p.S181T; 5:38523438-38523438	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1647A>G; p.G549G; 5:38499537-38499537	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2042G>C; p.S681T; 5:38493629-38493629	skin	malignant_melanoma	Substitution - Missense
c.3185C>T; p.S1062F; 5:38481704-38481704	urinary_tract; bladder	carcinoma	Substitution - Missense
c.53A>G; p.K18R; 5:38530595-38530595	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1103G>A; p.S368N; 5:38506521-38506521	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1665T>C; p.Y555Y; 5:38499519-38499519	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.672T>C; p.I224I; 5:38511854-38511854	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2011_2012insT; p.M672fs*12; 5:38493659-38493660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Insertion - Frameshift
c.609G>A; p.W203*; 5:38511917-38511917	skin	malignant_melanoma	Substitution - Nonsense
c.758A>T; p.K253M; 5:38510697-38510697	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3160A>C; p.I1054L; 5:38481729-38481729	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3289G>A; p.D1097N; 5:38481600-38481600	skin	malignant_melanoma	Substitution - Missense
c.2953G>A; p.A985T; 5:38481936-38481936	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2564G>T; p.S855I; 5:38484802-38484802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2940G>T; p.M980I; 5:38481949-38481949	large_intestine	adenoma	Substitution - Missense
c.2741G>A; p.R914Q; 5:38482148-38482148	skin	malignant_melanoma	Substitution - Missense
c.56G>T; p.R19I; 5:38530592-38530592	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2629G>A; p.E877K; 5:38482630-38482630	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1914G>A; p.G638G; 5:38493757-38493757	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.954C>T; p.T318T; 5:38510501-38510501	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.300T>C; p.I100I; 5:38527252-38527252	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.223C>T; p.R75C; 5:38528760-38528760	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1738G>A; p.E580K; 5:38496529-38496529	skin	malignant_melanoma	Substitution - Missense
c.364A>G; p.T122A; 5:38527188-38527188	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2060A>G; p.E687G; 5:38493611-38493611	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1948G>A; p.D650N; 5:38493723-38493723	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2060A>G; p.E687G; 5:38493611-38493611	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2585G>A; p.R862Q; 5:38484781-38484781	skin	malignant_melanoma	Substitution - Missense
c.984delT; p.F328fs*12; 5:38510471-38510471	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.60G>A; p.M20I; 5:38530588-38530588	skin	malignant_melanoma	Substitution - Missense
c.2560A>G; p.T854A; 5:38484806-38484806	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1522C>T; p.R508W; 5:38502715-38502715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1522C>T; p.R508W; 5:38502715-38502715	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2158G>T; p.E720*; 5:38490199-38490199	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2230T>A; p.W744R; 5:38489183-38489183	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1201C>A; p.P401T; 5:38505995-38505995	skin	malignant_melanoma	Substitution - Missense
c.1354delT; p.S452fs*36; 5:38504059-38504059	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.2665T>C; p.C889R; 5:38482594-38482594	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.124G>A; p.V42I; 5:38530524-38530524	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2358G>C; p.K786N; 5:38485958-38485958	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1253G>C; p.R418P; 5:38505943-38505943	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1719A>G; p.V573V; 5:38496548-38496548	breast	carcinoma	Substitution - coding silent
c.517G>A; p.E173K; 5:38523463-38523463	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2664C>T; p.V888V; 5:38482595-38482595	skin	malignant_melanoma	Substitution - coding silent
c.3127G>A; p.D1043N; 5:38481762-38481762	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2335+1G>C; p.?; 5:38489077-38489077	lung	carcinoma; adenocarcinoma	Unknown
c.404T>C; p.I135T; 5:38523576-38523576	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2243C>T; p.P748L; 5:38489170-38489170	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3204T>G; p.F1068L; 5:38481685-38481685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.823G>T; p.E275*; 5:38510632-38510632	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2584C>T; p.R862*; 5:38484782-38484782	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2584C>T; p.R862*; 5:38484782-38484782	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1703T>C; p.I568T; 5:38496564-38496564	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2694G>A; p.L898L; 5:38482195-38482195	skin	malignant_melanoma	Substitution - coding silent
c.944T>C; p.V315A; 5:38510511-38510511	NS	malignant_melanoma	Substitution - Missense
c.3199C>A; p.Q1067K; 5:38481690-38481690	breast	carcinoma	Substitution - Missense
c.1439G>A; p.R480Q; 5:38502798-38502798	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.532C>T; p.R178C; 5:38523448-38523448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.955G>A; p.E319K; 5:38510500-38510500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.955G>A; p.E319K; 5:38510500-38510500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.955G>A; p.E319K; 5:38510500-38510500	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.955G>A; p.E319K; 5:38510500-38510500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.955G>A; p.E319K; 5:38510500-38510500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.532C>T; p.R178C; 5:38523448-38523448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1575A>C; p.K525N; 5:38502662-38502662	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1456G>T; p.G486*; 5:38502781-38502781	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.533G>A; p.R178H; 5:38523447-38523447	oesophagus	carcinoma	Substitution - Missense
c.929G>C; p.S310T; 5:38510526-38510526	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1256C>T; p.S419L; 5:38505940-38505940	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2984C>A; p.P995H; 5:38481905-38481905	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3131C>A; p.S1044Y; 5:38481758-38481758	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2387T>C; p.L796P; 5:38485929-38485929	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1239C>G; p.H413Q; 5:38505957-38505957	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1523G>A; p.R508Q; 5:38502714-38502714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1170C>T; p.N390N; 5:38506026-38506026	liver	carcinoma	Substitution - coding silent
c.970G>A; p.G324R; 5:38510485-38510485	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1170C>T; p.N390N; 5:38506026-38506026	liver	carcinoma	Substitution - coding silent
c.254A>G; p.N85S; 5:38528729-38528729	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.858C>T; p.N286N; 5:38510597-38510597	skin	malignant_melanoma	Substitution - coding silent
c.1732G>A; p.D578N; 5:38496535-38496535	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1732G>A; p.D578N; 5:38496535-38496535	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2466G>T; p.E822D; 5:38485850-38485850	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2994G>A; p.G998G; 5:38481895-38481895	liver	carcinoma	Substitution - coding silent
c.2994G>A; p.G998G; 5:38481895-38481895	liver	carcinoma	Substitution - coding silent
c.1965C>T; p.C655C; 5:38493706-38493706	large_intestine; rectum	adenoma	Substitution - coding silent
c.1965C>T; p.C655C; 5:38493706-38493706	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2093A>T; p.N698I; 5:38490264-38490264	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1459G>A; p.V487I; 5:38502778-38502778	skin	malignant_melanoma	Substitution - Missense
c.3194C>T; p.S1065F; 5:38481695-38481695	skin	malignant_melanoma	Substitution - Missense
c.3180A>G; p.P1060P; 5:38481709-38481709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2915T>C; p.V972A; 5:38481974-38481974	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>A; p.E469K; 5:38504008-38504008	breast	carcinoma	Substitution - Missense
c.866T>C; p.L289S; 5:38510589-38510589	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.982T>G; p.F328V; 5:38510473-38510473	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>A; p.E469K; 5:38504008-38504008	skin	malignant_melanoma	Substitution - Missense
c.2107G>T; p.G703*; 5:38490250-38490250	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2227A>C; p.K743Q; 5:38489186-38489186	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2629G>T; p.E877*; 5:38482630-38482630	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.719C>T; p.P240L; 5:38511807-38511807	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1748C>T; p.S583F; 5:38496519-38496519	skin	malignant_melanoma	Substitution - Missense
c.2353delG; p.V785fs*12; 5:38485963-38485963	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1601-1G>A; p.?; 5:38499584-38499584	skin; trunk	malignant_melanoma	Unknown
c.634G>T; p.E212*; 5:38511892-38511892	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2059G>T; p.E687*; 5:38493612-38493612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.482G>A; p.G161D; 5:38523498-38523498	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2059G>T; p.E687*; 5:38493612-38493612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1930C>T; p.L644F; 5:38493741-38493741	skin	malignant_melanoma	Substitution - Missense
c.1413G>A; p.K471K; 5:38504000-38504000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1865C>T; p.A622V; 5:38496402-38496402	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2398G>A; p.D800N; 5:38485918-38485918	skin	malignant_melanoma	Substitution - Missense
c.828_829insA; p.V277fs*17; 5:38510626-38510627	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1865C>T; p.A622V; 5:38496402-38496402	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.356G>A; p.G119E; 5:38527196-38527196	skin	malignant_melanoma	Substitution - Missense
c.867G>A; p.L289L; 5:38510588-38510588	skin	malignant_melanoma	Substitution - coding silent
c.582G>A; p.L194L; 5:38511944-38511944	breast	carcinoma	Substitution - coding silent
c.2526C>A; p.I842I; 5:38484840-38484840	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2705C>A; p.P902H; 5:38482184-38482184	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1930C>A; p.L644I; 5:38493741-38493741	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2402T>G; p.L801R; 5:38485914-38485914	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.50A>C; p.N17T; 5:38530598-38530598	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1416A>T; p.K472N; 5:38503997-38503997	liver	carcinoma	Substitution - Missense
c.1477C>T; p.L493F; 5:38502760-38502760	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.1416A>T; p.K472N; 5:38503997-38503997	liver	carcinoma	Substitution - Missense
c.1477C>T; p.L493F; 5:38502760-38502760	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.416C>T; p.P139L; 5:38523564-38523564	skin	malignant_melanoma	Substitution - Missense
c.2705C>T; p.P902L; 5:38482184-38482184	skin	malignant_melanoma	Substitution - Missense
c.2705C>T; p.P902L; 5:38482184-38482184	skin	malignant_melanoma	Substitution - Missense
c.2502G>A; p.V834V; 5:38484864-38484864	skin	malignant_melanoma	Substitution - coding silent
c.182A>T; p.Q61L; 5:38528801-38528801	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1732G>C; p.D578H; 5:38496535-38496535	NS	NS	Substitution - Missense
c.547G>A; p.E183K; 5:38523433-38523433	skin	malignant_melanoma	Substitution - Missense
c.263G>A; p.R88H; 5:38527289-38527289	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.263G>A; p.R88H; 5:38527289-38527289	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1985G>A; p.C662Y; 5:38493686-38493686	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2063C>T; p.S688F; 5:38493608-38493608	skin	malignant_melanoma	Substitution - Missense
c.375C>G; p.F125L; 5:38527177-38527177	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.403A>G; p.I135V; 5:38523577-38523577	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.669C>T; p.Y223Y; 5:38511857-38511857	thyroid	carcinoma	Substitution - coding silent
c.1598C>A; p.A533D; 5:38502639-38502639	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2481G>T; p.V827V; 5:38485835-38485835	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3151A>T; p.N1051Y; 5:38481738-38481738	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1139T>C; p.V380A; 5:38506057-38506057	skin	malignant_melanoma	Substitution - Missense
c.35C>T; p.S12F; 5:38530613-38530613	skin	malignant_melanoma	Substitution - Missense
c.1456G>A; p.G486R; 5:38502781-38502781	skin	malignant_melanoma	Substitution - Missense
c.3016C>T; p.H1006Y; 5:38481873-38481873	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.129T>C; p.N43N; 5:38530519-38530519	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1730C>T; p.S577L; 5:38496537-38496537	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3173G>A; p.G1058E; 5:38481716-38481716	skin	malignant_melanoma	Substitution - Missense
c.1123T>G; p.F375V; 5:38506073-38506073	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1079C>T; p.A360V; 5:38506545-38506545	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3179C>T; p.P1060L; 5:38481710-38481710	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2435G>A; p.R812Q; 5:38485881-38485881	skin	malignant_melanoma	Substitution - Missense
c.2435G>A; p.R812Q; 5:38485881-38485881	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2910A>T; p.A970A; 5:38481979-38481979	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.208C>A; p.P70T; 5:38528775-38528775	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.705G>A; p.W235*; 5:38511821-38511821	skin	malignant_melanoma	Substitution - Nonsense
c.2033C>T; p.P678L; 5:38493638-38493638	skin	malignant_melanoma	Substitution - Missense
c.590A>T; p.K197I; 5:38511936-38511936	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.62_63insAGAATGAG; p.T22fs*2; 5:38530585-38530586	ovary	carcinoma; clear_cell_carcinoma	Insertion - Frameshift
c.350A>G; p.D117G; 5:38527202-38527202	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1686T>C; p.N562N; 5:38496581-38496581	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1646G>A; p.G549E; 5:38499538-38499538	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1891C>T; p.L631F; 5:38493780-38493780	skin	malignant_melanoma	Substitution - Missense
c.3250G>C; p.G1084R; 5:38481639-38481639	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2904G>A; p.G968G; 5:38481985-38481985	skin	malignant_melanoma	Substitution - coding silent
c.409G>A; p.D137N; 5:38523571-38523571	skin	malignant_melanoma	Substitution - Missense
c.92C>G; p.S31*; 5:38530556-38530556	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.766C>T; p.P256S; 5:38510689-38510689	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2752C>T; p.P918S; 5:38482137-38482137	skin	malignant_melanoma	Substitution - Missense
c.2057T>G; p.I686R; 5:38493614-38493614	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.123A>G; p.Q41Q; 5:38530525-38530525	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1886-1G>C; p.?; 5:38493786-38493786	breast	carcinoma	Unknown
c.1352T>C; p.L451P; 5:38504061-38504061	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1897A>G; p.I633V; 5:38493774-38493774	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2131T>C; p.L711L; 5:38490226-38490226	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.484T>A; p.S162T; 5:38523496-38523496	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2036C>T; p.S679L; 5:38493635-38493635	breast	carcinoma	Substitution - Missense
c.667T>C; p.Y223H; 5:38511859-38511859	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2803G>A; p.D935N; 5:38482086-38482086	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2024G>T; p.R675I; 5:38493647-38493647	breast	carcinoma	Substitution - Missense
c.1677A>G; p.L559L; 5:38496590-38496590	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1932C>T; p.L644L; 5:38493739-38493739	skin	malignant_melanoma	Substitution - coding silent
c.587G>A; p.G196D; 5:38511939-38511939	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2830C>T; p.H944Y; 5:38482059-38482059	skin	malignant_melanoma	Substitution - Missense
c.1380A>G; p.A460A; 5:38504033-38504033	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.224G>A; p.R75H; 5:38528759-38528759	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2161G>T; p.E721*; 5:38490196-38490196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2392A>C; p.I798L; 5:38485924-38485924	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1547T>C; p.F516S; 5:38502690-38502690	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2599G>A; p.E867K; 5:38482660-38482660	skin	malignant_melanoma	Substitution - Missense
c.1994C>A; p.S665Y; 5:38493677-38493677	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2491G>A; p.E831K; 5:38485825-38485825	skin	malignant_melanoma	Substitution - Missense
c.2504G>T; p.G835V; 5:38484862-38484862	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.655G>A; p.E219K; 5:38511871-38511871	skin	malignant_melanoma	Substitution - Missense
c.2251G>A; p.E751K; 5:38489162-38489162	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3265A>C; p.N1089H; 5:38481624-38481624	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.418G>C; p.E140Q; 5:38523562-38523562	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2138G>T; p.R713L; 5:38490219-38490219	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1885+1G>C; p.?; 5:38496381-38496381	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2313T>C; p.S771S; 5:38489100-38489100	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.309_315delTTCACAT; p.S104fs*5; 5:38527237-38527243	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2909C>T; p.A970V; 5:38481980-38481980	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.108A>G; p.L36L; 5:38530540-38530540	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - coding silent
c.1464A>C; p.E488D; 5:38502773-38502773	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1830A>G; p.K610K; 5:38496437-38496437	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.443_444insTT; p.T150fs*7; 5:38523536-38523537	lung	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.2466G>A; p.E822E; 5:38485850-38485850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1611G>T; p.K537N; 5:38499573-38499573	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.53A>C; p.K18T; 5:38530595-38530595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1819G>A; p.V607I; 5:38496448-38496448	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1551G>A; p.W517*; 5:38502686-38502686	skin	malignant_melanoma	Substitution - Nonsense
c.514delT; p.W172fs*14; 5:38523466-38523466	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2272G>A; p.G758R; 5:38489141-38489141	skin	malignant_melanoma	Substitution - Missense
c.1042G>T; p.E348*; 5:38506582-38506582	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1042G>T; p.E348*; 5:38506582-38506582	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3029A>T; p.N1010I; 5:38481860-38481860	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2312C>T; p.S771F; 5:38489101-38489101	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1330A>G; p.I444V; 5:38504083-38504083	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2337T>C; p.G779G; 5:38485979-38485979	skin	malignant_melanoma	Substitution - coding silent
c.1331T>A; p.I444N; 5:38504082-38504082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1267A>G; p.I423V; 5:38505929-38505929	skin	malignant_melanoma	Substitution - Missense
c.2504G>A; p.G835E; 5:38484862-38484862	skin	malignant_melanoma	Substitution - Missense
c.1337C>G; p.S446*; 5:38504076-38504076	breast	carcinoma	Substitution - Nonsense
c.1337C>G; p.S446*; 5:38504076-38504076	breast	carcinoma	Substitution - Nonsense
c.142G>A; p.G48R; 5:38530506-38530506	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3086G>A; p.R1029K; 5:38481803-38481803	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.553G>A; p.V185I; 5:38523427-38523427	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2453G>A; p.G818E; 5:38485863-38485863	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2993G>A; p.G998E; 5:38481896-38481896	skin	malignant_melanoma	Substitution - Missense
c.675C>T; p.D225D; 5:38511851-38511851	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1488G>A; p.L496L; 5:38502749-38502749	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3074C>A; p.T1025N; 5:38481815-38481815	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.337A>T; p.N113Y; 5:38527215-38527215	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2231G>A; p.W744*; 5:38489182-38489182	skin	malignant_melanoma	Substitution - Nonsense
c.2263T>G; p.F755V; 5:38489150-38489150	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3137G>T; p.R1046I; 5:38481752-38481752	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1090C>A; p.P364T; 5:38506534-38506534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3196C>T; p.R1066*; 5:38481693-38481693	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.905G>A; p.R302H; 5:38510550-38510550	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1245G>A; p.P415P; 5:38505951-38505951	skin	malignant_melanoma	Substitution - coding silent
c.1524G>A; p.R508R; 5:38502713-38502713	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.2100C>T; p.F700F; 5:38490257-38490257	skin	malignant_melanoma	Substitution - coding silent
c.1046T>G; p.I349S; 5:38506578-38506578	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1884T>G; p.N628K; 5:38496383-38496383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2505A>G; p.G835G; 5:38484861-38484861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.16G>A; p.V6I; 5:38530632-38530632	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.826A>G; p.K276E; 5:38510629-38510629	liver	carcinoma	Substitution - Missense
c.826A>G; p.K276E; 5:38510629-38510629	liver	carcinoma	Substitution - Missense
c.2654A>T; p.Q885L; 5:38482605-38482605	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2029G>T; p.V677F; 5:38493642-38493642	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2075G>A; p.R692Q; 5:38490282-38490282	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2450G>A; p.G817D; 5:38485866-38485866	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.2450G>A; p.G817D; 5:38485866-38485866	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3250G>A; p.G1084R; 5:38481639-38481639	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3250G>A; p.G1084R; 5:38481639-38481639	large_intestine	carcinoma; adenocarcinoma	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]