Entrez Gene

Basic Information
Gene ID	2050
Name	EPHB4
Synonymous	EPH receptor B4;EPHB4;EPH receptor B4
Definition	ephrin receptor EphB4\|ephrin type-B receptor 4\|hepatoma transmembrane kinase\|soluble EPHB4 variant 1\|soluble EPHB4 variant 2\|soluble EPHB4 variant 3\|tyrosine-protein kinase TYRO11\|tyrosine-protein kinase receptor HTK
Position	7q22
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.2593C>T; p.P865S; 7:100805586-100805586	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2014G>A; p.E672K; 7:100812851-100812851	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.943C>T; p.P315S; 7:100820162-100820162	skin	malignant_melanoma	Substitution - Missense
c.809C>T; p.A270V; 7:100820296-100820296	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2108C>T; p.S703F; 7:100812757-100812757	skin	malignant_melanoma	Substitution - Missense
c.2458C>T; p.P820S; 7:100806446-100806446	skin	malignant_melanoma	Substitution - Missense
c.1401C>T; p.Y467Y; 7:100818541-100818541	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1414C>T; p.H472Y; 7:100818528-100818528	skin; arm	malignant_melanoma	Substitution - Missense
c.377T>G; p.L126R; 7:100823678-100823678	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1486G>T; p.G496W; 7:100817294-100817294	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1296G>T; p.E432D; 7:100819558-100819558	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.794A>T; p.N265I; 7:100822285-100822285	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.794A>T; p.N265I; 7:100822285-100822285	liver	carcinoma	Substitution - Missense
c.1829T>C; p.I610T; 7:100813136-100813136	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2466G>A; p.W822*; 7:100806438-100806438	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2466G>A; p.W822*; 7:100806438-100806438	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.359C>T; p.A120V; 7:100823696-100823696	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1292G>A; p.R431Q; 7:100819562-100819562	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.412-1G>T; p.?; 7:100822668-100822668	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1298-6T>G; p.?; 7:100818650-100818650	liver	carcinoma	Unknown
c.360G>A; p.A120A; 7:100823695-100823695	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1974G>A; p.R658R; 7:100812891-100812891	pancreas	carcinoma	Substitution - coding silent
c.2565C>T; p.D855D; 7:100805614-100805614	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2688C>T; p.H896H; 7:100805312-100805312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2472G>A; p.M824I; 7:100806432-100806432	urinary_tract; bladder	carcinoma	Substitution - Missense
c.840A>T; p.S280S; 7:100820265-100820265	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1037C>T; p.P346L; 7:100819817-100819817	skin	malignant_melanoma	Substitution - Missense
c.1037C>T; p.P346L; 7:100819817-100819817	skin	malignant_melanoma	Substitution - Missense
c.1037C>T; p.P346L; 7:100819817-100819817	skin	malignant_melanoma	Substitution - Missense
c.1674C>T; p.V558V; 7:100813936-100813936	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2484C>T; p.D828D; 7:100806420-100806420	stomach	adenocarcinoma	Substitution - coding silent
c.2378_2379CC>TT; p.A793V; 7:100806525-100806526	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.998G>A; p.R333H; 7:100819856-100819856	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1759A>G; p.T587A; 7:100813206-100813206	prostate	carcinoma	Substitution - Missense
c.1887G>A; p.V629V; 7:100812978-100812978	ovary	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1887G>A; p.V629V; 7:100812978-100812978	ovary	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2880A>C; p.K960N; 7:100803545-100803545	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1918_1920delAAG; p.K640delK; 7:100812945-100812947	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - In frame
c.2571G>A; p.W857*; 7:100805608-100805608	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1919A>C; p.K640T; 7:100812946-100812946	skin	malignant_melanoma	Substitution - Missense
c.1945C>A; p.L649M; 7:100812920-100812920	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1834G>A; p.V612I; 7:100813131-100813131	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified	Substitution - Missense
c.2397C>T; p.S799S; 7:100806507-100806507	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2366C>T; p.P789L; 7:100806538-100806538	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.820G>T; p.G274C; 7:100820285-100820285	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.814G>T; p.A272S; 7:100820291-100820291	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2750G>A; p.R917Q; 7:100805250-100805250	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2196C>G; p.A732A; 7:100807503-100807503	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2000T>C; p.I667T; 7:100812865-100812865	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2324C>T; p.T775M; 7:100807375-100807375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1216G>A; p.V406I; 7:100819638-100819638	breast	carcinoma	Substitution - Missense
c.2324C>T; p.T775M; 7:100807375-100807375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1480C>T; p.L494L; 7:100817300-100817300	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1422G>C; p.K474N; 7:100818520-100818520	prostate	carcinoma	Substitution - Missense
c.537G>A; p.Q179Q; 7:100822542-100822542	skin	malignant_melanoma	Substitution - coding silent
c.2767A>G; p.R923G; 7:100805233-100805233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2202G>C; p.M734I; 7:100807497-100807497	oesophagus	carcinoma	Substitution - Missense
c.1620G>C; p.L540L; 7:100813990-100813990	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.296C>T; p.S99F; 7:100823759-100823759	skin	malignant_melanoma	Substitution - Missense
c.1402G>A; p.E468K; 7:100818540-100818540	skin	malignant_melanoma	Substitution - Missense
c.1527G>A; p.A509A; 7:100817253-100817253	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.27G>A; p.W9*; 7:100827004-100827004	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1989C>T; p.S663S; 7:100812876-100812876	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2116C>T; p.R706W; 7:100812749-100812749	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.915C>T; p.R305R; 7:100820190-100820190	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1724C>T; p.S575L; 7:100813684-100813684	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1331G>A; p.R444Q; 7:100818611-100818611	breast	carcinoma	Substitution - Missense
c.1891C>T; p.R631W; 7:100812974-100812974	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2953C>A; p.P985T; 7:100803472-100803472	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.786T>A; p.A262A; 7:100822293-100822293	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.786T>A; p.A262A; 7:100822293-100822293	liver	carcinoma	Substitution - coding silent
c.2463C>T; p.Y821Y; 7:100806441-100806441	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2590C>T; p.R864W; 7:100805589-100805589	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.820G>A; p.G274S; 7:100820285-100820285	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2883C>A; p.I961I; 7:100803542-100803542	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1298-1G>C; p.?; 7:100818645-100818645	stomach	carcinoma; adenocarcinoma	Unknown
c.2067C>T; p.V689V; 7:100812798-100812798	skin	malignant_melanoma	Substitution - coding silent
c.2523G>A; p.P841P; 7:100805656-100805656	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.944C>T; p.P315L; 7:100820161-100820161	skin	malignant_melanoma	Substitution - Missense
c.944C>T; p.P315L; 7:100820161-100820161	skin	malignant_melanoma	Substitution - Missense
c.2666G>A; p.R889Q; 7:100805513-100805513	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2666G>A; p.R889Q; 7:100805513-100805513	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2128G>A; p.G710R; 7:100807571-100807571	skin	malignant_melanoma	Substitution - Missense
c.1083C>T; p.C361C; 7:100819771-100819771	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2383C>T; p.R795W; 7:100806521-100806521	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.313C>T; p.R105C; 7:100823742-100823742	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1412A>G; p.Y471C; 7:100818530-100818530	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.901G>A; p.V301I; 7:100820204-100820204	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.367G>A; p.A123T; 7:100823688-100823688	urinary_tract; bladder	carcinoma	Substitution - Missense
c.367G>A; p.A123T; 7:100823688-100823688	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1626G>C; p.A542A; 7:100813984-100813984	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1760C>T; p.T587I; 7:100813205-100813205	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.494G>A; p.R165H; 7:100822585-100822585	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.945C>T; p.P315P; 7:100820160-100820160	skin	malignant_melanoma	Substitution - coding silent
c.193C>A; p.R65S; 7:100823862-100823862	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.930G>T; p.R310R; 7:100820175-100820175	liver	carcinoma	Substitution - coding silent
c.930G>T; p.R310R; 7:100820175-100820175	liver	carcinoma	Substitution - coding silent
c.99G>T; p.V33V; 7:100824227-100824227	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1938C>G; p.I646M; 7:100812927-100812927	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.378C>T; p.L126L; 7:100823677-100823677	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1873G>A; p.E625K; 7:100812992-100812992	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1798A>C; p.N600H; 7:100813167-100813167	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2197G>A; p.E733K; 7:100807502-100807502	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.859C>G; p.P287A; 7:100820246-100820246	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1241_1242CC>GA; p.S414*; 7:100819612-100819613	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.600G>A; p.L200L; 7:100822479-100822479	breast	carcinoma	Substitution - coding silent
c.2543C>A; p.S848Y; 7:100805636-100805636	skin	malignant_melanoma	Substitution - Missense
c.180G>T; p.V60V; 7:100823875-100823875	central_nervous_system; brain	glioma	Substitution - coding silent
c.1330C>T; p.R444W; 7:100818612-100818612	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2636G>A; p.R879Q; 7:100805543-100805543	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2597G>A; p.R866H; 7:100805582-100805582	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.166C>T; p.R56C; 7:100823889-100823889	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2597G>A; p.R866H; 7:100805582-100805582	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1603C>T; p.R535W; 7:100814007-100814007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1773C>T; p.I591I; 7:100813192-100813192	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1657C>T; p.L553L; 7:100813953-100813953	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2301G>A; p.E767E; 7:100807398-100807398	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1603C>T; p.R535W; 7:100814007-100814007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1855G>A; p.E619K; 7:100813110-100813110	skin	malignant_melanoma	Substitution - Missense
c.267G>A; p.T89T; 7:100823788-100823788	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1013C>T; p.S338F; 7:100819841-100819841	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.246C>A; p.G82G; 7:100823809-100823809	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1575G>A; p.Q525Q; 7:100817205-100817205	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2738G>T; p.G913V; 7:100805262-100805262	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1969C>G; p.Q657E; 7:100812896-100812896	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.742C>T; p.Q248*; 7:100822337-100822337	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1258G>A; p.V420I; 7:100819596-100819596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2418C>T; p.Y806Y; 7:100806486-100806486	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1233G>T; p.G411G; 7:100819621-100819621	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.770C>T; p.P257L; 7:100822309-100822309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2665C>T; p.R889W; 7:100805514-100805514	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2665C>T; p.R889W; 7:100805514-100805514	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2665C>T; p.R889W; 7:100805514-100805514	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1186C>T; p.L396L; 7:100819668-100819668	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1565A>G; p.H522R; 7:100817215-100817215	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2665C>T; p.R889W; 7:100805514-100805514	stomach	adenocarcinoma	Substitution - Missense
c.524A>G; p.Y175C; 7:100822555-100822555	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1189C>T; p.R397C; 7:100819665-100819665	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1357G>A; p.A453T; 7:100818585-100818585	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1892G>A; p.R631Q; 7:100812973-100812973	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1706G>A; p.G569E; 7:100813702-100813702	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1262C>A; p.P421Q; 7:100819592-100819592	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.592G>T; p.A198S; 7:100822487-100822487	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1968G>A; p.R656R; 7:100812897-100812897	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1632G>A; p.T544T; 7:100813978-100813978	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1752A>G; p.G584G; 7:100813656-100813656	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1752A>G; p.G584G; 7:100813656-100813656	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1752A>G; p.G584G; 7:100813656-100813656	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1309G>A; p.V437M; 7:100818633-100818633	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1719A>G; p.E573E; 7:100813689-100813689	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1120G>T; p.G374W; 7:100819734-100819734	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.942C>A; p.D314E; 7:100820163-100820163	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.503C>T; p.P168L; 7:100822576-100822576	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.942C>A; p.D314E; 7:100820163-100820163	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1767C>T; p.V589V; 7:100813198-100813198	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.269T>C; p.L90P; 7:100823786-100823786	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.687C>T; p.P229P; 7:100822392-100822392	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1751G>A; p.G584E; 7:100813657-100813657	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1099G>A; p.G367R; 7:100819755-100819755	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2595C>T; p.P865P; 7:100805584-100805584	skin	malignant_melanoma	Substitution - coding silent
c.128A>T; p.E43V; 7:100823927-100823927	ovary	carcinoma	Substitution - Missense
c.2215C>T; p.R739*; 7:100807484-100807484	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.369C>A; p.A123A; 7:100823686-100823686	thyroid	other; neoplasm	Substitution - coding silent
c.2280C>T; p.G760G; 7:100807419-100807419	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2186G>A; p.R729Q; 7:100807513-100807513	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2065G>A; p.V689I; 7:100812800-100812800	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2065G>A; p.V689I; 7:100812800-100812800	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2151C>T; p.L717L; 7:100807548-100807548	skin	malignant_melanoma	Substitution - coding silent
c.1749C>T; p.I583I; 7:100813659-100813659	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.493C>T; p.R165C; 7:100822586-100822586	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.935G>T; p.R312L; 7:100820170-100820170	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.913C>A; p.R305S; 7:100820192-100820192	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.361G>T; p.D121Y; 7:100823694-100823694	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2484+1G>A; p.?; 7:100806419-100806419	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2603C>T; p.P868L; 7:100805576-100805576	skin	malignant_melanoma	Substitution - Missense
c.2343G>C; p.K781N; 7:100806561-100806561	oesophagus	carcinoma	Substitution - Missense
c.683T>C; p.V228A; 7:100822396-100822396	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1530C>T; p.R510R; 7:100817250-100817250	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1530C>T; p.R510R; 7:100817250-100817250	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.571C>T; p.H191Y; 7:100822508-100822508	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2398G>A; p.A800T; 7:100806506-100806506	stomach	carcinoma	Substitution - Missense
c.2773G>A; p.E925K; 7:100805227-100805227	skin	malignant_melanoma	Substitution - Missense
c.1301C>T; p.P434L; 7:100818641-100818641	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.827T>G; p.F276C; 7:100820278-100820278	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1662G>A; p.V554V; 7:100813948-100813948	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1830C>T; p.I610I; 7:100813135-100813135	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1986G>A; p.L662L; 7:100812879-100812879	breast	carcinoma	Substitution - coding silent
c.1213G>C; p.E405Q; 7:100819641-100819641	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1095A>G; p.R365R; 7:100819759-100819759	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.106C>T; p.P36S; 7:100824220-100824220	skin	malignant_melanoma	Substitution - Missense
c.616C>T; p.R206*; 7:100822463-100822463	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1659G>C; p.L553L; 7:100813951-100813951	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1079G>A; p.R360H; 7:100819775-100819775	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.935G>A; p.R312H; 7:100820170-100820170	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.935G>A; p.R312H; 7:100820170-100820170	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2154G>T; p.V718V; 7:100807545-100807545	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1261C>T; p.P421S; 7:100819593-100819593	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2166G>A; p.R722R; 7:100807533-100807533	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1159G>A; p.V387M; 7:100819695-100819695	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.118G>A; p.G40R; 7:100824208-100824208	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.444G>A; p.R148R; 7:100822635-100822635	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2177C>T; p.S726L; 7:100807522-100807522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2064C>A; p.P688P; 7:100812801-100812801	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2064C>A; p.P688P; 7:100812801-100812801	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2272G>C; p.D758H; 7:100807427-100807427	breast	carcinoma	Substitution - Missense
c.1676C>T; p.A559V; 7:100813934-100813934	breast	carcinoma	Substitution - Missense
c.2209G>A; p.V737I; 7:100807490-100807490	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1545C>T; p.Y515Y; 7:100817235-100817235	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1545C>T; p.Y515Y; 7:100817235-100817235	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified	Substitution - coding silent
c.947G>A; p.R316Q; 7:100820158-100820158	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1150delC; p.R384fs*26; 7:100819704-100819704	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2949_2950insACCG; p.A984fs*>6; 7:100803475-100803476	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift

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]