Entrez Gene

Basic Information
Gene ID	7468
Name	WHSC1
Synonymous	Wolf-Hirschhorn syndrome candidate 1;WHSC1;Wolf-Hirschhorn syndrome candidate 1
Definition	IL5 promoter REII region-binding protein\|histone-lysine N-methyltransferase NSD2\|multiple myeloma SET domain containing protein type III\|nuclear SET domain-containing protein 2\|probable histone-lysine N-methyltransferase NSD2\|trithorax/ash1-related protei
Position	4p16.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.1957G>T; p.V653F; 4:1951147-1951147	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.3374A>G; p.D1125G; 4:1974864-1974864	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1675-9A>T; p.?; 4:1938442-1938442	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.509A>C; p.K170T; 4:1901163-1901163	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1229A>T; p.E410V; 4:1918442-1918442	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2331G>A; p.P777P; 4:1953517-1953517	bone; sacrum	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2834G>C; p.G945A; 4:1956141-1956141	breast	carcinoma	Substitution - Missense
c.2027C>G; p.P676R; 4:1952121-1952121	breast	carcinoma	Substitution - Missense
c.3955G>A; p.G1319R; 4:1978766-1978766	breast	carcinoma	Substitution - Missense
c.2738A>G; p.H913R; 4:1956045-1956045	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1777G>A; p.A593T; 4:1939674-1939674	breast	carcinoma	Substitution - Missense
c.1289A>G; p.D430G; 4:1918502-1918502	breast	carcinoma	Substitution - Missense
c.760+2T>C; p.?; 4:1904380-1904380	breast	carcinoma	Unknown
c.1656C>G; p.D552E; 4:1935244-1935244	breast	carcinoma	Substitution - Missense
c.3502G>A; p.D1168N; 4:1974992-1974992	breast	carcinoma	Substitution - Missense
c.3448A>G; p.T1150A; 4:1974938-1974938	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3798C>A; p.S1266S; 4:1976651-1976651	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2196A>G; p.V732V; 4:1953382-1953382	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3324C>T; p.H1108H; 4:1961103-1961103	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3192G>T; p.E1064D; 4:1959677-1959677	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.80T>A; p.I27N; 4:1900734-1900734	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1502G>A; p.R501H; 4:1930717-1930717	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4057C>T; p.R1353W; 4:1978868-1978868	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1804C>T; p.R602W; 4:1939701-1939701	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2535C>A; p.C845*; 4:1955709-1955709	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.205G>A; p.D69N; 4:1900859-1900859	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2485G>A; p.V829I; 4:1955307-1955307	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2802G>A; p.A934A; 4:1956109-1956109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.125G>A; p.R42H; 4:1900779-1900779	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.229G>A; p.D77N; 4:1900883-1900883	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1922A>G; p.Y641C; 4:1951112-1951112	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2271C>T; p.F757F; 4:1953457-1953457	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1249G>A; p.D417N; 4:1918462-1918462	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3683G>A; p.R1228H; 4:1976536-1976536	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2264G>A; p.R755Q; 4:1953450-1953450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4072T>C; p.W1358R; 4:1978883-1978883	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1577G>T; p.R526I; 4:1935165-1935165	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2580C>T; p.I860I; 4:1955754-1955754	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2749G>T; p.E917*; 4:1956056-1956056	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3744C>T; p.G1248G; 4:1976597-1976597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1627G>A; p.D543N; 4:1935215-1935215	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.778C>T; p.R260C; 4:1916888-1916888	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3448A>G; p.T1150A; 4:1974938-1974938	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3448A>G; p.T1150A; 4:1974938-1974938	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3448A>G; p.T1150A; 4:1974938-1974938	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1081A>C; p.K361Q; 4:1918294-1918294	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2368G>A; p.V790I; 4:1955190-1955190	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.3295G>A; p.E1099K; 4:1961074-1961074	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.3295G>A; p.E1099K; 4:1961074-1961074	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3295G>A; p.E1099K; 4:1961074-1961074	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3295G>A; p.E1099K; 4:1961074-1961074	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.3295G>A; p.E1099K; 4:1961074-1961074	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3295G>A; p.E1099K; 4:1961074-1961074	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3295G>A; p.E1099K; 4:1961074-1961074	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.3295G>A; p.E1099K; 4:1961074-1961074	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2835_2836insC; p.S946fs*21; 4:1956142-1956143	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.2490C>T; p.N830N; 4:1955312-1955312	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.4046A>T; p.K1349M; 4:1978857-1978857	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3376C>T; p.R1126C; 4:1974866-1974866	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1798C>T; p.R600*; 4:1939695-1939695	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Nonsense
c.1356G>A; p.R452R; 4:1918569-1918569	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - coding silent
c.1410G>A; p.E470E; 4:1918623-1918623	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.3054C>A; p.C1018*; 4:1959539-1959539	kidney	other; neoplasm	Substitution - Nonsense
c.2374T>C; p.Y792H; 4:1955196-1955196	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.62T>A; p.M21K; 4:1900716-1900716	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.581G>T; p.S194I; 4:1901235-1901235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.581G>T; p.S194I; 4:1901235-1901235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.581G>T; p.S194I; 4:1901235-1901235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.581G>T; p.S194I; 4:1901235-1901235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.581G>T; p.S194I; 4:1901235-1901235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.581G>T; p.S194I; 4:1901235-1901235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.581G>T; p.S194I; 4:1901235-1901235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.581G>T; p.S194I; 4:1901235-1901235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.581G>T; p.S194I; 4:1901235-1901235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.581G>T; p.S194I; 4:1901235-1901235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.581G>T; p.S194I; 4:1901235-1901235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2802G>A; p.A934A; 4:1956109-1956109	kidney	other; neoplasm	Substitution - coding silent
c.997G>A; p.A333T; 4:1918210-1918210	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3295G>A; p.E1099K; 4:1961074-1961074	kidney	Wilms_tumour	Substitution - Missense
c.3568G>C; p.V1190L; 4:1975347-1975347	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3932C>T; p.T1311I; 4:1978743-1978743	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.484G>C; p.E162Q; 4:1901138-1901138	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.548T>G; p.L183R; 4:1901202-1901202	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.277G>A; p.A93T; 4:1900931-1900931	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1127C>A; p.S376Y; 4:1918340-1918340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1653G>C; p.T551T; 4:1935241-1935241	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3572G>A; p.C1191Y; 4:1975351-1975351	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1979G>A; p.R660Q; 4:1951169-1951169	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3312G>A; p.A1104A; 4:1961091-1961091	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1502G>A; p.R501H; 4:1930717-1930717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2834_2835insC; p.S946fs*21; 4:1956141-1956142	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2445C>A; p.A815A; 4:1955267-1955267	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4057C>T; p.R1353W; 4:1978868-1978868	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.310G>T; p.E104*; 4:1900964-1900964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1009G>A; p.V337M; 4:1918222-1918222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.495G>A; p.A165A; 4:1901149-1901149	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2383G>A; p.G795R; 4:1955205-1955205	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2682G>A; p.W894*; 4:1955989-1955989	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1816G>A; p.A606T; 4:1939713-1939713	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2676-1G>T; p.?; 4:1955982-1955982	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2028G>A; p.P676P; 4:1952122-1952122	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.395A>G; p.Y132C; 4:1901049-1901049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3842C>A; p.P1281H; 4:1978653-1978653	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1740G>A; p.S580S; 4:1938516-1938516	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1410G>T; p.E470D; 4:1918623-1918623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.84C>T; p.L28L; 4:1900738-1900738	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3886T>C; p.C1296R; 4:1978697-1978697	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3261A>G; p.E1087E; 4:1961040-1961040	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4020_4021insC; p.E1344fs*>23; 4:1978831-1978832	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4020_4021insC; p.E1344fs*>23; 4:1978831-1978832	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4020_4021insC; p.E1344fs*>23; 4:1978831-1978832	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4020_4021insC; p.E1344fs*>23; 4:1978831-1978832	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4020_4021insC; p.E1344fs*>23; 4:1978831-1978832	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4002A>G; p.R1334R; 4:1978813-1978813	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1214T>G; p.L405R; 4:1918427-1918427	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3260A>G; p.E1087G; 4:1961039-1961039	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3260A>G; p.E1087G; 4:1961039-1961039	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3260A>G; p.E1087G; 4:1961039-1961039	large_intestine; rectum	NS	Substitution - Missense
c.3260A>G; p.E1087G; 4:1961039-1961039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4021delC; p.P1343fs*>23; 4:1978832-1978832	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4021delC; p.P1343fs*>23; 4:1978832-1978832	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4021delC; p.P1343fs*>23; 4:1978832-1978832	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4021delC; p.P1343fs*>23; 4:1978832-1978832	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1936G>A; p.E646K; 4:1951126-1951126	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2908C>T; p.R970C; 4:1957959-1957959	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3270C>T; p.N1090N; 4:1961049-1961049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1201C>T; p.R401W; 4:1918414-1918414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3840T>C; p.C1280C; 4:1978651-1978651	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2564C>A; p.P855H; 4:1955738-1955738	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2564C>A; p.P855H; 4:1955738-1955738	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2831G>A; p.R944Q; 4:1956138-1956138	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1422G>T; p.E474D; 4:1930637-1930637	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3207G>T; p.K1069N; 4:1959692-1959692	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1279G>A; p.A427T; 4:1918492-1918492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3560delA; p.T1189fs*140; 4:1975339-1975339	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.289delA; p.K97fs*9; 4:1900943-1900943	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1901A>G; p.D634G; 4:1951091-1951091	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2521G>T; p.G841W; 4:1955695-1955695	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.310G>A; p.E104K; 4:1900964-1900964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3905C>T; p.S1302L; 4:1978716-1978716	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4000A>G; p.R1334G; 4:1978811-1978811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2863G>A; p.G955R; 4:1956170-1956170	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1678G>C; p.D560H; 4:1938454-1938454	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1697C>T; p.T566M; 4:1938473-1938473	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3379A>G; p.I1127V; 4:1974869-1974869	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.692C>T; p.S231L; 4:1904310-1904310	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.469A>T; p.N157Y; 4:1901123-1901123	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3858C>T; p.D1286D; 4:1978669-1978669	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2686G>A; p.A896T; 4:1955993-1955993	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.275G>A; p.G92D; 4:1900929-1900929	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3779C>T; p.T1260I; 4:1976632-1976632	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1190T>C; p.M397T; 4:1918403-1918403	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2233delA; p.K746fs*4; 4:1953419-1953419	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1924G>A; p.E642K; 4:1951114-1951114	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>A; p.A165T; 4:1901147-1901147	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4017G>T; p.E1339D; 4:1978828-1978828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2029G>A; p.G677S; 4:1952123-1952123	liver	carcinoma	Substitution - Missense
c.2741A>G; p.E914G; 4:1956048-1956048	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3148G>A; p.E1050K; 4:1959633-1959633	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1756G>C; p.A586P; 4:1938532-1938532	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.858A>G; p.G286G; 4:1916968-1916968	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1596A>G; p.I532M; 4:1935184-1935184	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3294C>T; p.D1098D; 4:1961073-1961073	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3295G>A; p.E1099K; 4:1961074-1961074	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3285G>A; p.E1095E; 4:1961064-1961064	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3050A>T; p.N1017I; 4:1959535-1959535	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1957G>T; p.V653F; 4:1951147-1951147	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.855A>C; p.E285D; 4:1916965-1916965	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1322G>T; p.R441M; 4:1918535-1918535	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1685_1686insC; p.E563fs*>23; 4:1978839-1978840	lung	carcinoma; non_small_cell_carcinoma	Insertion - Frameshift
c.3395C>T; p.P1132L; 4:1974885-1974885	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.108G>A; p.P36P; 4:1900762-1900762	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3090_3091GG>TC; p.E1031Q; 4:1959575-1959576	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2593G>T; p.G865C; 4:1955767-1955767	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2310C>T; p.S770S; 4:1953496-1953496	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2909G>T; p.R970L; 4:1957960-1957960	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2863G>A; p.G955R; 4:1956170-1956170	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1887G>T; p.S629S; 4:1951077-1951077	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.295C>T; p.R99C; 4:1900949-1900949	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1194G>T; p.K398N; 4:1918407-1918407	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3532A>G; p.N1178D; 4:1975311-1975311	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1061A>T; p.H354L; 4:1918274-1918274	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1740G>A; p.S580S; 4:1938516-1938516	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1937A>G; p.E646G; 4:1951127-1951127	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3325G>A; p.A1109T; 4:1961104-1961104	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.124C>T; p.R42C; 4:1900778-1900778	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2305G>A; p.A769T; 4:1953491-1953491	oesophagus	carcinoma	Substitution - Missense
c.1017G>A; p.E339E; 4:1918230-1918230	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.385delA; p.T129fs*5; 4:1901039-1901039	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.3259G>C; p.E1087Q; 4:1961038-1961038	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4000A>C; p.R1334R; 4:1978811-1978811	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3873T>G; p.P1291P; 4:1978684-1978684	pancreas	NS	Substitution - coding silent
c.3873T>G; p.P1291P; 4:1978684-1978684	pancreas	carcinoma	Substitution - coding silent
c.3479G>A; p.R1160H; 4:1974969-1974969	pancreas	carcinoma	Substitution - Missense
c.4020_4021insC; p.E1344fs*>23; 4:1978831-1978832	pancreas	carcinoma; ductal_carcinoma	Insertion - Frameshift
c.3255G>C; p.K1085N; 4:1959740-1959740	prostate	carcinoma	Substitution - Missense
c.3377G>A; p.R1126H; 4:1974867-1974867	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3858C>T; p.D1286D; 4:1978669-1978669	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3858C>T; p.D1286D; 4:1978669-1978669	prostate	carcinoma	Substitution - coding silent
c.2480C>T; p.A827V; 4:1955302-1955302	skin	malignant_melanoma	Substitution - Missense
c.960C>T; p.A320A; 4:1918173-1918173	skin	malignant_melanoma	Substitution - coding silent
c.3607_3608GG>AA; p.G1203K; 4:1975386-1975387	skin	malignant_melanoma	Substitution - Missense
c.2824G>A; p.G942R; 4:1956131-1956131	skin	malignant_melanoma	Substitution - Missense
c.141C>T; p.F47F; 4:1900795-1900795	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.3015C>T; p.I1005I; 4:1959500-1959500	skin	malignant_melanoma	Substitution - coding silent
c.863G>A; p.G288E; 4:1916973-1916973	skin	malignant_melanoma	Substitution - Missense
c.107_119del?; p.?; 4:1900761-1900773	skin; trunk	malignant_melanoma; nodular	Unknown
c.1905_1906GC>AT; p.P636S; 4:1951095-1951096	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.530C>T; p.S177F; 4:1901184-1901184	skin	malignant_melanoma	Substitution - Missense
c.2754C>T; p.F918F; 4:1956061-1956061	skin	malignant_melanoma	Substitution - coding silent
c.2754C>T; p.F918F; 4:1956061-1956061	skin	malignant_melanoma	Substitution - coding silent
c.2754C>T; p.F918F; 4:1956061-1956061	skin	malignant_melanoma	Substitution - coding silent
c.62T>G; p.M21R; 4:1900716-1900716	skin	malignant_melanoma	Substitution - Missense
c.1255G>A; p.G419R; 4:1918468-1918468	skin	malignant_melanoma	Substitution - Missense
c.1128C>T; p.S376S; 4:1918341-1918341	skin	malignant_melanoma	Substitution - coding silent
c.3787T>C; p.Y1263H; 4:1976640-1976640	skin	malignant_melanoma	Substitution - Missense
c.1425_1426CC>TT; p.P476S; 4:1930640-1930641	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2812C>T; p.P938S; 4:1956119-1956119	skin	malignant_melanoma	Substitution - Missense
c.2766C>T; p.F922F; 4:1956073-1956073	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2329C>T; p.P777S; 4:1953515-1953515	skin; mucosal	malignant_melanoma	Substitution - Missense
c.32C>T; p.S11F; 4:1900686-1900686	skin	malignant_melanoma	Substitution - Missense
c.3451C>T; p.L1151F; 4:1974941-1974941	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1127C>T; p.S376F; 4:1918340-1918340	skin	malignant_melanoma	Substitution - Missense
c.215C>T; p.P72L; 4:1900869-1900869	skin	malignant_melanoma	Substitution - Missense
c.1910C>T; p.S637L; 4:1951100-1951100	skin	malignant_melanoma	Substitution - Missense
c.3058C>T; p.P1020S; 4:1959543-1959543	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3995C>T; p.S1332L; 4:1978806-1978806	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3147C>T; p.G1049G; 4:1959632-1959632	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2038C>T; p.L680L; 4:1952132-1952132	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2033G>A; p.S678N; 4:1952127-1952127	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3611A>G; p.D1204G; 4:1975390-1975390	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2671T>G; p.Y891D; 4:1955845-1955845	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3967T>C; p.C1323R; 4:1978778-1978778	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.521A>C; p.K174T; 4:1901175-1901175	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2478C>T; p.H826H; 4:1955300-1955300	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.428T>G; p.I143S; 4:1901082-1901082	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3681G>A; p.R1227R; 4:1976534-1976534	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4021delC; p.P1343fs*>23; 4:1978832-1978832	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1501C>T; p.R501C; 4:1930716-1930716	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.747T>C; p.Y249Y; 4:1904365-1904365	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1799G>A; p.R600Q; 4:1939696-1939696	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1246C>T; p.P416S; 4:1918459-1918459	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3291C>T; p.I1097I; 4:1961070-1961070	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3959G>A; p.R1320Q; 4:1978770-1978770	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2803C>T; p.R935*; 4:1956110-1956110	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2185C>T; p.R729C; 4:1953371-1953371	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2185C>T; p.R729C; 4:1953371-1953371	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1872T>C; p.T624T; 4:1939769-1939769	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3430T>G; p.C1144G; 4:1974920-1974920	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3892C>A; p.L1298I; 4:1978703-1978703	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3394C>A; p.P1132T; 4:1974884-1974884	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.82C>T; p.L28F; 4:1900736-1900736	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.82C>T; p.L28F; 4:1900736-1900736	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.3259G>A; p.E1087K; 4:1961038-1961038	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2185C>T; p.R729C; 4:1953371-1953371	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2185C>T; p.R729C; 4:1953371-1953371	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2474A>C; p.H825P; 4:1955296-1955296	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3550C>T; p.L1184L; 4:1975329-1975329	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3875C>T; p.S1292L; 4:1978686-1978686	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1494G>A; p.Q498Q; 4:1930709-1930709	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.841C>A; p.L281I; 4:1916951-1916951	urinary_tract; bladder	carcinoma	Substitution - Missense
c.787C>T; p.H263Y; 4:1916897-1916897	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1574A>G; p.K525R; 4:1935162-1935162	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1743C>G; p.L581L; 4:1938519-1938519	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2628G>A; p.K876K; 4:1955802-1955802	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2672A>G; p.Y891C; 4:1955846-1955846	urinary_tract; bladder	carcinoma	Substitution - Missense
c.583C>G; p.P195A; 4:1901237-1901237	urinary_tract; bladder	carcinoma	Substitution - Missense

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COSMIC confirmed somatic mutation [Top]

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