Entrez Gene

Basic Information
Gene ID	137970
Name	UNC5D
Synonymous	unc-5 homolog D (C. elegans);UNC5D;unc-5 homolog D (C. elegans)
Definition	netrin receptor UNC5D\|netrin receptor Unc5h4\|protein unc-5 homolog 4\|protein unc-5 homolog D\|unc-5 homolog 4
Position	8p12
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 0.08.

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.2658C>T; p.F886F; 8:35790374-35790374	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2658C>T; p.F886F; 8:35790374-35790374	skin	malignant_melanoma	Substitution - coding silent
c.2658C>T; p.F886F; 8:35790374-35790374	skin	malignant_melanoma	Substitution - coding silent
c.2658C>T; p.F886F; 8:35790374-35790374	skin	malignant_melanoma	Substitution - coding silent
c.1152C>T; p.A384A; 8:35722259-35722259	pancreas	carcinoma	Substitution - coding silent
c.157G>T; p.E53*; 8:35549360-35549360	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.145C>T; p.P49S; 8:35549348-35549348	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2658C>T; p.F886F; 8:35790374-35790374	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2658C>T; p.F886F; 8:35790374-35790374	skin	malignant_melanoma	Substitution - coding silent
c.909T>C; p.D303D; 8:35686549-35686549	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.932A>G; p.E311G; 8:35686572-35686572	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.270C>T; p.N90N; 8:35549473-35549473	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2713C>T; p.Q905*; 8:35790429-35790429	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1252G>T; p.G418C; 8:35722359-35722359	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.620C>T; p.A207V; 8:35683611-35683611	skin	malignant_melanoma	Substitution - Missense
c.1516C>T; p.P506S; 8:35726379-35726379	skin	malignant_melanoma	Substitution - Missense
c.2366G>A; p.R789H; 8:35766969-35766969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2194G>T; p.E732*; 8:35759365-35759365	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1227C>A; p.V409V; 8:35722334-35722334	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2674C>A; p.P892T; 8:35790390-35790390	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1695C>A; p.A565A; 8:35731040-35731040	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.972C>A; p.I324I; 8:35686612-35686612	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2076C>A; p.G692G; 8:35750737-35750737	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1329G>A; p.L443L; 8:35726192-35726192	skin; arm	malignant_melanoma	Substitution - coding silent
c.2551T>A; p.S851T; 8:35774386-35774386	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.600C>T; p.D200D; 8:35683591-35683591	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.334A>T; p.N112Y; 8:35568124-35568124	breast	carcinoma	Substitution - Missense
c.2095C>G; p.L699V; 8:35750756-35750756	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.319C>G; p.R107G; 8:35568109-35568109	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.319C>G; p.R107G; 8:35568109-35568109	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2573C>A; p.A858D; 8:35774408-35774408	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.193C>T; p.P65S; 8:35549396-35549396	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.103G>A; p.E35K; 8:35549306-35549306	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.103G>A; p.E35K; 8:35549306-35549306	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1414C>A; p.P472T; 8:35726277-35726277	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1511C>A; p.T504N; 8:35726374-35726374	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2642G>A; p.R881K; 8:35774477-35774477	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2668A>C; p.S890R; 8:35790384-35790384	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2093C>T; p.S698F; 8:35750754-35750754	skin	malignant_melanoma	Substitution - Missense
c.1122C>T; p.D374D; 8:35722229-35722229	lung	carcinoid-endocrine_tumour	Substitution - coding silent
c.1389C>T; p.L463L; 8:35726252-35726252	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2694C>T; p.N898N; 8:35790410-35790410	skin	malignant_melanoma	Substitution - coding silent
c.2565G>T; p.R855R; 8:35774400-35774400	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2594C>T; p.A865V; 8:35774429-35774429	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1843A>T; p.I615F; 8:35748618-35748618	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1524A>G; p.G508G; 8:35726387-35726387	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1868C>A; p.S623Y; 8:35748643-35748643	breast	carcinoma	Substitution - Missense
c.918G>A; p.W306*; 8:35686558-35686558	skin	malignant_melanoma	Substitution - Nonsense
c.1845C>T; p.I615I; 8:35748620-35748620	skin	malignant_melanoma	Substitution - coding silent
c.2563C>T; p.R855W; 8:35774398-35774398	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1065C>A; p.I355I; 8:35686705-35686705	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1039G>A; p.E347K; 8:35686679-35686679	NS	NS	Substitution - Missense
c.2394C>T; p.S798S; 8:35766997-35766997	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1939G>C; p.D647H; 8:35750600-35750600	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1119C>T; p.S373S; 8:35722226-35722226	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2490C>T; p.F830F; 8:35774325-35774325	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1119C>T; p.S373S; 8:35722226-35722226	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1712C>A; p.S571Y; 8:35731057-35731057	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1783A>G; p.S595G; 8:35748558-35748558	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1139G>T; p.G380V; 8:35722246-35722246	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.153C>T; p.F51F; 8:35549356-35549356	skin	malignant_melanoma	Substitution - coding silent
c.153C>T; p.F51F; 8:35549356-35549356	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2219G>T; p.G740V; 8:35759390-35759390	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2597A>C; p.K866T; 8:35774432-35774432	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.968_969GG>TT; p.R323L; 8:35686608-35686609	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.852C>T; p.A284A; 8:35684697-35684697	skin	malignant_melanoma	Substitution - coding silent
c.724G>A; p.V242I; 8:35683715-35683715	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1645C>T; p.R549C; 8:35726508-35726508	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.119C>T; p.S40F; 8:35549322-35549322	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1729T>C; p.S577P; 8:35731074-35731074	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2026G>T; p.E676*; 8:35750687-35750687	breast	carcinoma	Substitution - Nonsense
c.730G>A; p.V244I; 8:35683721-35683721	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2730T>G; p.L910L; 8:35790446-35790446	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1248A>T; p.T416T; 8:35722355-35722355	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1886A>T; p.H629L; 8:35748661-35748661	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1577A>G; p.Q526R; 8:35726440-35726440	pancreas	carcinoma	Substitution - Missense
c.2163T>G; p.D721E; 8:35759334-35759334	skin	malignant_melanoma	Substitution - Missense
c.2385C>A; p.T795T; 8:35766988-35766988	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2755G>T; p.E919*; 8:35790471-35790471	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1484A>T; p.E495V; 8:35726347-35726347	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2755G>T; p.E919*; 8:35790471-35790471	large_intestine; colon	carcinoma	Substitution - Nonsense
c.1839G>T; p.L613F; 8:35748614-35748614	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1846C>A; p.P616T; 8:35748621-35748621	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1644G>A; p.G548G; 8:35726507-35726507	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2755G>T; p.E919*; 8:35790471-35790471	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1484A>T; p.E495V; 8:35726347-35726347	urinary_tract; bladder	carcinoma	Substitution - Missense
c.102C>T; p.G34G; 8:35549305-35549305	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.672C>A; p.Y224*; 8:35683663-35683663	ovary	other; neoplasm	Substitution - Nonsense
c.1014C>A; p.F338L; 8:35686654-35686654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.102C>T; p.G34G; 8:35549305-35549305	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.102C>T; p.G34G; 8:35549305-35549305	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.102C>T; p.G34G; 8:35549305-35549305	central_nervous_system; brain	glioma	Substitution - coding silent
c.2098G>A; p.D700N; 8:35750759-35750759	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.965T>G; p.L322W; 8:35686605-35686605	skin	malignant_melanoma	Substitution - Missense
c.682G>A; p.A228T; 8:35683673-35683673	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2098G>A; p.D700N; 8:35750759-35750759	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.682G>A; p.A228T; 8:35683673-35683673	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2015C>T; p.A672V; 8:35750676-35750676	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.428G>T; p.R143M; 8:35568218-35568218	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2737C>A; p.L913M; 8:35790453-35790453	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.375G>A; p.E125E; 8:35568165-35568165	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2597A>G; p.K866R; 8:35774432-35774432	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2530A>G; p.K844E; 8:35774365-35774365	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.454T>G; p.L152V; 8:35595556-35595556	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2819_2820TC>AT; p.F940>?; 8:35790535-35790536	lung	carcinoma; adenocarcinoma	Complex
c.2553C>T; p.S851S; 8:35774388-35774388	skin	malignant_melanoma	Substitution - coding silent
c.2750T>G; p.L917R; 8:35790466-35790466	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1841C>A; p.T614N; 8:35748616-35748616	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1746A>G; p.E582E; 8:35731091-35731091	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2191G>A; p.E731K; 8:35759362-35759362	breast	carcinoma	Substitution - Missense
c.901C>T; p.P301S; 8:35684746-35684746	skin	malignant_melanoma	Substitution - Missense
c.1829C>G; p.P610R; 8:35748604-35748604	liver	carcinoma	Substitution - Missense
c.1992C>T; p.L664L; 8:35750653-35750653	skin	malignant_melanoma	Substitution - coding silent
c.1829C>G; p.P610R; 8:35748604-35748604	liver	carcinoma	Substitution - Missense
c.1690G>A; p.G564S; 8:35731035-35731035	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1984C>T; p.H662Y; 8:35750645-35750645	skin; trunk	malignant_melanoma	Substitution - Missense
c.1690G>A; p.G564S; 8:35731035-35731035	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1369G>T; p.D457Y; 8:35726232-35726232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.444C>T; p.R148R; 8:35568234-35568234	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.163C>A; p.P55T; 8:35549366-35549366	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1794C>T; p.V598V; 8:35748569-35748569	skin	malignant_melanoma	Substitution - coding silent
c.1969G>A; p.D657N; 8:35750630-35750630	skin	malignant_melanoma	Substitution - Missense
c.1893G>A; p.K631K; 8:35748668-35748668	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1311T>C; p.S437S; 8:35726174-35726174	thyroid	other; neoplasm	Substitution - coding silent
c.1311T>C; p.S437S; 8:35726174-35726174	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2481C>A; p.I827I; 8:35774316-35774316	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2643-1G>A; p.?; 8:35790358-35790358	skin	malignant_melanoma	Unknown
c.657G>T; p.S219S; 8:35683648-35683648	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.657G>T; p.S219S; 8:35683648-35683648	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.2761G>C; p.G921R; 8:35790477-35790477	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2410C>T; p.R804W; 8:35767013-35767013	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2332C>T; p.R778W; 8:35766935-35766935	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2046C>T; p.A682A; 8:35750707-35750707	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2332C>T; p.R778W; 8:35766935-35766935	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2332C>T; p.R778W; 8:35766935-35766935	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2718T>A; p.H906Q; 8:35790434-35790434	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.358G>A; p.D120N; 8:35568148-35568148	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1699C>T; p.P567S; 8:35731044-35731044	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.358G>A; p.D120N; 8:35568148-35568148	skin	malignant_melanoma	Substitution - Missense
c.295G>C; p.D99H; 8:35549498-35549498	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2269T>C; p.W757R; 8:35759440-35759440	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1138G>T; p.G380C; 8:35722245-35722245	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.452A>C; p.Y151S; 8:35595554-35595554	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2053C>T; p.Q685*; 8:35750714-35750714	liver	carcinoma	Substitution - Nonsense
c.693C>A; p.I231I; 8:35683684-35683684	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2053C>T; p.Q685*; 8:35750714-35750714	liver	carcinoma	Substitution - Nonsense
c.1982G>T; p.C661F; 8:35750643-35750643	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.629A>T; p.N210I; 8:35683620-35683620	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1604C>A; p.T535K; 8:35726467-35726467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.675C>T; p.T225T; 8:35683666-35683666	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1777C>G; p.L593V; 8:35748552-35748552	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1431A>C; p.K477N; 8:35726294-35726294	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1777C>G; p.L593V; 8:35748552-35748552	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1972C>A; p.P658T; 8:35750633-35750633	breast	carcinoma	Substitution - Missense
c.2594C>A; p.A865D; 8:35774429-35774429	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.487A>G; p.R163G; 8:35595589-35595589	skin	malignant_melanoma	Substitution - Missense
c.187A>T; p.S63C; 8:35549390-35549390	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1297C>T; p.L433L; 8:35726160-35726160	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.605A>C; p.N202T; 8:35683596-35683596	skin	malignant_melanoma	Substitution - Missense
c.1519C>A; p.H507N; 8:35726382-35726382	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2643G>A; p.R881R; 8:35790359-35790359	skin	malignant_melanoma	Substitution - coding silent
c.2333G>A; p.R778Q; 8:35766936-35766936	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.496C>T; p.P166S; 8:35595598-35595598	skin	malignant_melanoma	Substitution - Missense
c.496C>T; p.P166S; 8:35595598-35595598	skin	malignant_melanoma	Substitution - Missense
c.1120G>A; p.D374N; 8:35722227-35722227	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2605G>A; p.D869N; 8:35774440-35774440	skin	malignant_melanoma	Substitution - Missense
c.823A>T; p.T275S; 8:35684668-35684668	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.120C>T; p.S40S; 8:35549323-35549323	skin	malignant_melanoma	Substitution - coding silent
c.2125G>T; p.D709Y; 8:35750786-35750786	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.113C>T; p.P38L; 8:35549316-35549316	skin	malignant_melanoma	Substitution - Missense
c.665G>A; p.G222E; 8:35683656-35683656	skin	malignant_melanoma	Substitution - Missense
c.1030C>T; p.Q344*; 8:35686670-35686670	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1272C>T; p.F424F; 8:35722379-35722379	skin	malignant_melanoma	Substitution - coding silent
c.1384G>A; p.E462K; 8:35726247-35726247	skin	malignant_melanoma	Substitution - Missense
c.2596A>G; p.K866E; 8:35774431-35774431	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1272C>T; p.F424F; 8:35722379-35722379	skin	malignant_melanoma	Substitution - coding silent
c.2258C>T; p.P753L; 8:35759429-35759429	skin	malignant_melanoma	Substitution - Missense
c.1219G>A; p.V407M; 8:35722326-35722326	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.713T>A; p.L238Q; 8:35683704-35683704	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.651G>A; p.R217R; 8:35683642-35683642	skin	malignant_melanoma	Substitution - coding silent
c.867G>A; p.M289I; 8:35684712-35684712	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2337G>A; p.Q779Q; 8:35766940-35766940	skin	malignant_melanoma	Substitution - coding silent
c.1541G>T; p.S514I; 8:35726404-35726404	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1541G>T; p.S514I; 8:35726404-35726404	liver	carcinoma	Substitution - Missense
c.346C>T; p.Q116*; 8:35568136-35568136	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.112C>A; p.P38T; 8:35549315-35549315	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2609G>T; p.W870L; 8:35774444-35774444	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.951A>C; p.P317P; 8:35686591-35686591	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2365C>T; p.R789C; 8:35766968-35766968	breast	carcinoma	Substitution - Missense
c.216G>A; p.A72A; 8:35549419-35549419	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.773C>G; p.A258G; 8:35684618-35684618	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.216G>A; p.A72A; 8:35549419-35549419	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.216G>A; p.A72A; 8:35549419-35549419	breast	carcinoma	Substitution - coding silent
c.100_101GG>AA; p.G34N; 8:35549303-35549304	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2045C>G; p.A682G; 8:35750706-35750706	pancreas	carcinoma	Substitution - Missense
c.2298G>T; p.Q766H; 8:35759469-35759469	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2792C>A; p.S931*; 8:35790508-35790508	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.741T>A; p.N247K; 8:35684586-35684586	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1225G>T; p.V409F; 8:35722332-35722332	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1340G>A; p.R447Q; 8:35726203-35726203	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.215C>T; p.A72V; 8:35549418-35549418	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1707G>T; p.E569D; 8:35731052-35731052	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1351G>A; p.G451R; 8:35726214-35726214	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.760A>T; p.T254S; 8:35684605-35684605	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1263C>A; p.T421T; 8:35722370-35722370	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2492C>T; p.A831V; 8:35774327-35774327	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.119delC; p.I41fs*12; 8:35549322-35549322	liver	carcinoma	Deletion - Frameshift
c.1863C>G; p.V621V; 8:35748638-35748638	breast	carcinoma	Substitution - coding silent
c.1657C>T; p.P553S; 8:35726520-35726520	breast	carcinoma	Substitution - Missense
c.112C>T; p.P38S; 8:35549315-35549315	skin	malignant_melanoma	Substitution - Missense
c.716C>T; p.S239L; 8:35683707-35683707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1705G>A; p.E569K; 8:35731050-35731050	skin; trunk	malignant_melanoma	Substitution - Missense
c.2551T>C; p.S851P; 8:35774386-35774386	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1705G>A; p.E569K; 8:35731050-35731050	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2301A>C; p.E767D; 8:35766904-35766904	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.814C>T; p.R272W; 8:35684659-35684659	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2814C>T; p.A938A; 8:35790530-35790530	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.856T>C; p.C286R; 8:35684701-35684701	liver	carcinoma	Substitution - Missense
c.736+1G>A; p.?; 8:35683728-35683728	skin	malignant_melanoma	Unknown
c.1269C>A; p.N423K; 8:35722376-35722376	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1980G>C; p.A660A; 8:35750641-35750641	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.192C>T; p.N64N; 8:35549395-35549395	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1921G>A; p.E641K; 8:35750582-35750582	skin	malignant_melanoma	Substitution - Missense
c.1643G>T; p.G548V; 8:35726506-35726506	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1186A>C; p.T396P; 8:35722293-35722293	breast	carcinoma	Substitution - Missense
c.1575C>T; p.I525I; 8:35726438-35726438	skin	malignant_melanoma	Substitution - coding silent
c.2359C>T; p.L787L; 8:35766962-35766962	skin	malignant_melanoma	Substitution - coding silent
c.2444T>G; p.V815G; 8:35767047-35767047	liver	carcinoma	Substitution - Missense
c.2444T>G; p.V815G; 8:35767047-35767047	liver	carcinoma	Substitution - Missense
c.2444T>G; p.V815G; 8:35767047-35767047	liver	carcinoma	Substitution - Missense
c.940G>A; p.V314I; 8:35686580-35686580	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1266C>A; p.F422L; 8:35722373-35722373	breast	carcinoma	Substitution - Missense
c.2506A>T; p.T836S; 8:35774341-35774341	liver	carcinoma	Substitution - Missense
c.940G>A; p.V314I; 8:35686580-35686580	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2506A>T; p.T836S; 8:35774341-35774341	liver	carcinoma	Substitution - Missense
c.940G>A; p.V314I; 8:35686580-35686580	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2506A>T; p.T836S; 8:35774341-35774341	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1848G>A; p.P616P; 8:35748623-35748623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2649A>T; p.L883F; 8:35790365-35790365	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2757G>C; p.E919D; 8:35790473-35790473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.395T>C; p.V132A; 8:35568185-35568185	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1218C>T; p.G406G; 8:35722325-35722325	pancreas	carcinoma	Substitution - coding silent
c.2564G>A; p.R855Q; 8:35774399-35774399	skin	malignant_melanoma	Substitution - Missense
c.1209T>C; p.S403S; 8:35722316-35722316	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.365A>T; p.H122L; 8:35568155-35568155	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2471G>A; p.R824Q; 8:35774306-35774306	skin	malignant_melanoma	Substitution - Missense
c.2471G>A; p.R824Q; 8:35774306-35774306	skin	malignant_melanoma	Substitution - Missense
c.885C>T; p.T295T; 8:35684730-35684730	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2633G>A; p.S878N; 8:35774468-35774468	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2701G>A; p.E901K; 8:35790417-35790417	skin; scalp	malignant_melanoma	Substitution - Missense
c.2483C>A; p.T828N; 8:35774318-35774318	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1885C>G; p.H629D; 8:35748660-35748660	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.399G>T; p.A133A; 8:35568189-35568189	ovary	other; neoplasm	Substitution - coding silent
c.1697T>A; p.I566N; 8:35731042-35731042	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2481C>T; p.I827I; 8:35774316-35774316	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2624A>T; p.Q875L; 8:35774459-35774459	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2624A>T; p.Q875L; 8:35774459-35774459	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.210C>T; p.C70C; 8:35549413-35549413	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2600G>T; p.G867V; 8:35774435-35774435	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1904A>G; p.Q635R; 8:35748679-35748679	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2069T>A; p.V690D; 8:35750730-35750730	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.209G>C; p.C70S; 8:35549412-35549412	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.851C>T; p.A284V; 8:35684696-35684696	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1440C>T; p.V480V; 8:35726303-35726303	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2416C>A; p.L806I; 8:35767019-35767019	ovary	other; neoplasm	Substitution - Missense
c.1440C>T; p.V480V; 8:35726303-35726303	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.110T>A; p.L37H; 8:35549313-35549313	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.741T>G; p.N247K; 8:35684586-35684586	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2416C>A; p.L806I; 8:35767019-35767019	ovary	other; neoplasm	Substitution - Missense
c.1840A>G; p.T614A; 8:35748615-35748615	skin	malignant_melanoma	Substitution - Missense
c.308-1G>A; p.?; 8:35568097-35568097	skin	malignant_melanoma	Unknown
c.2019C>T; p.L673L; 8:35750680-35750680	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2728C>T; p.L910F; 8:35790444-35790444	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1558A>T; p.N520Y; 8:35726421-35726421	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1877G>A; p.W626*; 8:35748652-35748652	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2464_2465insT; p.S822fs*2; 8:35774299-35774300	skin; face	malignant_melanoma	Insertion - Frameshift
c.2280A>G; p.K760K; 8:35759451-35759451	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.1074A>C; p.K358N; 8:35705933-35705933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1786C>T; p.P596S; 8:35748561-35748561	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2233C>T; p.L745F; 8:35759404-35759404	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2402T>A; p.I801N; 8:35767005-35767005	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1969G>T; p.D657Y; 8:35750630-35750630	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2090A>G; p.N697S; 8:35750751-35750751	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2000G>A; p.S667N; 8:35750661-35750661	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1624G>T; p.V542F; 8:35726487-35726487	breast	carcinoma	Substitution - Missense
c.2539A>G; p.K847E; 8:35774374-35774374	pancreas	carcinoma	Substitution - Missense
c.902C>T; p.P301L; 8:35684747-35684747	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.717G>A; p.S239S; 8:35683708-35683708	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.717G>A; p.S239S; 8:35683708-35683708	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1155C>T; p.V385V; 8:35722262-35722262	skin	malignant_melanoma	Substitution - coding silent
c.2095C>A; p.L699M; 8:35750756-35750756	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.717G>A; p.S239S; 8:35683708-35683708	liver	carcinoma	Substitution - coding silent
c.863G>A; p.G288E; 8:35684708-35684708	skin	malignant_melanoma	Substitution - Missense
c.787T>A; p.C263S; 8:35684632-35684632	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1944A>T; p.E648D; 8:35750605-35750605	breast	carcinoma	Substitution - Missense
c.873G>T; p.V291V; 8:35684718-35684718	liver	carcinoma	Substitution - coding silent
c.873G>T; p.V291V; 8:35684718-35684718	liver	carcinoma	Substitution - coding silent
c.407A>G; p.H136R; 8:35568197-35568197	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.168T>C; p.D56D; 8:35549371-35549371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1814T>C; p.M605T; 8:35748589-35748589	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1667G>T; p.G556V; 8:35731012-35731012	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.933A>G; p.E311E; 8:35686573-35686573	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1667G>T; p.G556V; 8:35731012-35731012	large_intestine; colon	carcinoma	Substitution - Missense
c.1553C>T; p.P518L; 8:35726416-35726416	skin	malignant_melanoma	Substitution - Missense
c.933A>G; p.E311E; 8:35686573-35686573	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1667G>T; p.G556V; 8:35731012-35731012	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1180G>T; p.G394C; 8:35722287-35722287	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1614G>T; p.R538S; 8:35726477-35726477	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.423G>T; p.K141N; 8:35568213-35568213	thyroid	other; neoplasm	Substitution - Missense
c.2794G>A; p.E932K; 8:35790510-35790510	NS	malignant_melanoma	Substitution - Missense
c.1980G>A; p.A660A; 8:35750641-35750641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2190G>T; p.L730L; 8:35759361-35759361	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.773C>T; p.A258V; 8:35684618-35684618	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1434G>C; p.V478V; 8:35726297-35726297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2299-1_2299GG>TT; p.?; 8:35766901-35766902	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.1006G>A; p.G336S; 8:35686646-35686646	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.342T>C; p.T114T; 8:35568132-35568132	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2238G>A; p.Q746Q; 8:35759409-35759409	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2176G>T; p.G726C; 8:35759347-35759347	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1098C>T; p.P366P; 8:35705957-35705957	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.719C>A; p.A240D; 8:35683710-35683710	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2145T>A; p.F715L; 8:35750806-35750806	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2167A>G; p.R723G; 8:35759338-35759338	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2374C>G; p.P792A; 8:35766977-35766977	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.314A>G; p.K105R; 8:35568104-35568104	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2792C>T; p.S931L; 8:35790508-35790508	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.815G>A; p.R272Q; 8:35684660-35684660	stomach	adenocarcinoma	Substitution - Missense
c.2581G>A; p.D861N; 8:35774416-35774416	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.204C>G; p.L68L; 8:35549407-35549407	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2647T>G; p.L883V; 8:35790363-35790363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1043A>C; p.N348T; 8:35686683-35686683	skin	malignant_melanoma	Substitution - Missense
c.115G>A; p.E39K; 8:35549318-35549318	ovary	other; neoplasm	Substitution - Missense
c.1150G>C; p.A384P; 8:35722257-35722257	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2547C>A; p.P849P; 8:35774382-35774382	breast	carcinoma	Substitution - coding silent
c.1465G>T; p.G489*; 8:35726328-35726328	pancreas	carcinoma; acinar_carcinoma	Substitution - Nonsense
c.938C>T; p.S313F; 8:35686578-35686578	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2659G>A; p.A887T; 8:35790375-35790375	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2360T>C; p.L787P; 8:35766963-35766963	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.555G>C; p.E185D; 8:35595657-35595657	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2045C>T; p.A682V; 8:35750706-35750706	prostate	carcinoma	Substitution - Missense
c.904G>C; p.V302L; 8:35684749-35684749	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.231G>A; p.Q77Q; 8:35549434-35549434	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.952G>A; p.E318K; 8:35686592-35686592	pancreas	carcinoid-endocrine_tumour; islet_cell	Substitution - Missense
c.558G>A; p.V186V; 8:35683549-35683549	skin	malignant_melanoma	Substitution - coding silent
c.218delG; p.R73fs*32; 8:35549421-35549421	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1805C>A; p.P602H; 8:35748580-35748580	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1282C>A; p.R428S; 8:35722389-35722389	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2141C>T; p.A714V; 8:35750802-35750802	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2545C>T; p.P849S; 8:35774380-35774380	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1227C>T; p.V409V; 8:35722334-35722334	skin	malignant_melanoma	Substitution - coding silent
c.2717A>T; p.H906L; 8:35790433-35790433	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2141C>T; p.A714V; 8:35750802-35750802	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2511C>T; p.F837F; 8:35774346-35774346	skin	malignant_melanoma	Substitution - coding silent
c.2175A>T; p.Q725H; 8:35759346-35759346	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2013T>A; p.Y671*; 8:35750674-35750674	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.840C>G; p.L280L; 8:35684685-35684685	breast	carcinoma	Substitution - coding silent
c.2815G>A; p.D939N; 8:35790531-35790531	skin	malignant_melanoma	Substitution - Missense
c.2299G>A; p.E767K; 8:35766902-35766902	skin	malignant_melanoma	Substitution - Missense
c.1752C>T; p.S584S; 8:35748527-35748527	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2299G>A; p.E767K; 8:35766902-35766902	skin	malignant_melanoma	Substitution - Missense
c.1408T>C; p.F470L; 8:35726271-35726271	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1137G>A; p.S379S; 8:35722244-35722244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1160C>A; p.A387D; 8:35722267-35722267	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1716G>A; p.W572*; 8:35731061-35731061	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2307G>A; p.P769P; 8:35766910-35766910	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2491G>A; p.A831T; 8:35774326-35774326	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2307G>A; p.P769P; 8:35766910-35766910	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1575C>A; p.I525I; 8:35726438-35726438	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1461C>A; p.S487S; 8:35726324-35726324	pancreas	carcinoma	Substitution - coding silent
c.1770T>C; p.S590S; 8:35748545-35748545	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2315G>T; p.R772L; 8:35766918-35766918	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2422G>C; p.G808R; 8:35767025-35767025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2845T>A; p.*949K; 8:35790561-35790561	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Nonstop extension
c.998G>T; p.R333I; 8:35686638-35686638	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1819G>A; p.V607I; 8:35748594-35748594	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2813C>A; p.A938D; 8:35790529-35790529	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.968G>A; p.R323Q; 8:35686608-35686608	breast	carcinoma	Substitution - Missense
c.1817T>C; p.I606T; 8:35748592-35748592	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.428G>A; p.R143K; 8:35568218-35568218	skin	malignant_melanoma	Substitution - Missense
c.968G>A; p.R323Q; 8:35686608-35686608	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.249C>T; p.N83N; 8:35549452-35549452	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.360C>G; p.D120E; 8:35568150-35568150	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1067T>A; p.L356Q; 8:35686707-35686707	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2247C>T; p.V749V; 8:35759418-35759418	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1476G>A; p.E492E; 8:35726339-35726339	breast	carcinoma	Substitution - coding silent
c.1666G>A; p.G556R; 8:35726529-35726529	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2799C>T; p.S933S; 8:35790515-35790515	skin	malignant_melanoma	Substitution - coding silent
c.1102+1G>T; p.?; 8:35705962-35705962	breast	carcinoma	Unknown
c.1494C>T; p.G498G; 8:35726357-35726357	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.442C>T; p.R148C; 8:35568232-35568232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2103C>A; p.Y701*; 8:35750764-35750764	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1359C>T; p.I453I; 8:35726222-35726222	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1359C>T; p.I453I; 8:35726222-35726222	skin	malignant_melanoma	Substitution - coding silent
c.2775G>A; p.T925T; 8:35790491-35790491	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1050A>G; p.T350T; 8:35686690-35686690	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1940A>C; p.D647A; 8:35750601-35750601	pancreas	carcinoma	Substitution - Missense
c.435C>A; p.A145A; 8:35568225-35568225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.674C>T; p.T225I; 8:35683665-35683665	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1349G>A; p.S450N; 8:35726212-35726212	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.42T>C; p.A14A; 8:35544489-35544489	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.133C>T; p.P45S; 8:35549336-35549336	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.960A>G; p.E320E; 8:35686600-35686600	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1818C>G; p.I606M; 8:35748593-35748593	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1081C>A; p.L361I; 8:35705940-35705940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2418C>A; p.L806L; 8:35767021-35767021	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1443G>T; p.Q481H; 8:35726306-35726306	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2312C>A; p.S771Y; 8:35766915-35766915	skin	malignant_melanoma	Substitution - Missense
c.169G>A; p.D57N; 8:35549372-35549372	skin	malignant_melanoma	Substitution - Missense
c.2749C>A; p.L917I; 8:35790465-35790465	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.715T>A; p.S239T; 8:35683706-35683706	breast	carcinoma	Substitution - Missense
c.2413C>T; p.Q805*; 8:35767016-35767016	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.564G>A; p.W188*; 8:35683555-35683555	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1200G>A; p.R400R; 8:35722307-35722307	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.281C>T; p.S94F; 8:35549484-35549484	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1328T>C; p.L443P; 8:35726191-35726191	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1077A>C; p.K359N; 8:35705936-35705936	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.552C>G; p.A184A; 8:35595654-35595654	prostate	carcinoma	Substitution - coding silent
c.1979C>T; p.A660V; 8:35750640-35750640	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.686C>A; p.A229D; 8:35683677-35683677	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.490G>A; p.E164K; 8:35595592-35595592	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.490G>A; p.E164K; 8:35595592-35595592	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.796G>C; p.G266R; 8:35684641-35684641	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2078G>A; p.C693Y; 8:35750739-35750739	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1979C>A; p.A660E; 8:35750640-35750640	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2034C>T; p.I678I; 8:35750695-35750695	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1873C>A; p.H625N; 8:35748648-35748648	lung	carcinoma; mixed_small_cell_carcinoma-adenocarcinoma	Substitution - Missense
c.907G>A; p.D303N; 8:35686547-35686547	skin	malignant_melanoma	Substitution - Missense
c.1906C>A; p.Q636K; 8:35748681-35748681	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1211A>G; p.D404G; 8:35722318-35722318	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.478C>A; p.P160T; 8:35595580-35595580	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.899G>T; p.C300F; 8:35684744-35684744	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.538G>C; p.G180R; 8:35595640-35595640	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.538_539GG>AA; p.G180K; 8:35595640-35595641	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.656C>T; p.S219L; 8:35683647-35683647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1568C>T; p.P523L; 8:35726431-35726431	skin	malignant_melanoma	Substitution - Missense
c.253G>A; p.E85K; 8:35549456-35549456	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1918G>A; p.E640K; 8:35748693-35748693	skin	malignant_melanoma	Substitution - Missense
c.1103G>T; p.S368I; 8:35722210-35722210	urinary_tract; bladder	carcinoma	Substitution - Missense
c.231G>T; p.Q77H; 8:35549434-35549434	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2757G>T; p.E919D; 8:35790473-35790473	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1320G>A; p.Q440Q; 8:35726183-35726183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1907A>C; p.Q636P; 8:35748682-35748682	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.693C>T; p.I231I; 8:35683684-35683684	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.693C>T; p.I231I; 8:35683684-35683684	skin	malignant_melanoma	Substitution - coding silent
c.1282C>T; p.R428C; 8:35722389-35722389	skin	malignant_melanoma	Substitution - Missense
c.307+7G>C; p.?; 8:35549517-35549517	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Unknown
c.1302C>T; p.L434L; 8:35726165-35726165	central_nervous_system; brain	glioma	Substitution - coding silent
c.995C>T; p.P332L; 8:35686635-35686635	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1789G>A; p.E597K; 8:35748564-35748564	breast	carcinoma	Substitution - Missense
c.1847C>A; p.P616Q; 8:35748622-35748622	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.322G>A; p.E108K; 8:35568112-35568112	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.322G>A; p.E108K; 8:35568112-35568112	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.622G>C; p.D208H; 8:35683613-35683613	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.277G>A; p.V93I; 8:35549480-35549480	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Mutation summary in protein domains

Top

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

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]