Entrez Gene

Basic Information
Gene ID	3716
Name	JAK1
Synonymous	Janus kinase 1;JAK1;Janus kinase 1
Definition	tyrosine-protein kinase JAK1
Position	1p32.3-p31.3
Gene Type	protein-coding

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

c.1950C>T; p.I650I; 1:64846686-64846686	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.3268A>C; p.K1090Q; 1:64835497-64835497	breast	carcinoma	Substitution - Missense
c.566G>A; p.C189Y; 1:64869392-64869392	breast	carcinoma	Substitution - Missense
c.2116-2A>C; p.?; 1:64844891-64844891	breast	carcinoma	Unknown
c.3392G>A; p.C1131Y; 1:64834635-64834635	breast	carcinoma	Substitution - Missense
c.1798G>T; p.G600W; 1:64847633-64847633	breast	carcinoma	Substitution - Missense
c.2112C>G; p.Y704*; 1:64845516-64845516	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.1401G>A; p.W467*; 1:64857713-64857713	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.2404-1G>C; p.?; 1:64841602-64841602	breast	carcinoma	Unknown
c.803T>G; p.V268G; 1:64867053-64867053	breast	carcinoma	Substitution - Missense
c.1406G>A; p.C469Y; 1:64857708-64857708	breast	carcinoma	Substitution - Missense
c.556G>C; p.E186Q; 1:64869402-64869402	breast	carcinoma	Substitution - Missense
c.1909G>A; p.E637K; 1:64846727-64846727	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.1710G>C; p.M570I; 1:64850849-64850849	central_nervous_system; brainstem	glioma; astrocytoma_Grade_II	Substitution - Missense
c.3093T>C; p.D1031D; 1:64837979-64837979	central_nervous_system; brain	glioma	Substitution - coding silent
c.1410C>T; p.T470T; 1:64857704-64857704	central_nervous_system; brain	glioma	Substitution - coding silent
c.1761G>T; p.E587D; 1:64847670-64847670	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3275T>C; p.I1092T; 1:64835490-64835490	central_nervous_system; thalamus	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.933C>T; p.L311L; 1:64866923-64866923	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1847A>C; p.K616T; 1:64847584-64847584	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2995T>C; p.Y999H; 1:64838077-64838077	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1698delC; p.V567fs*4; 1:64850861-64850861	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1641G>A; p.K547K; 1:64855516-64855516	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2919C>T; p.N973N; 1:64838513-64838513	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3415C>T; p.R1139W; 1:64834612-64834612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2002G>T; p.E668*; 1:64845626-64845626	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.848C>T; p.A283V; 1:64867008-64867008	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2873T>G; p.F958C; 1:64838559-64838559	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.535G>A; p.E179K; 1:64869423-64869423	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.205+1G>A; p.?; 1:64883276-64883276	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.383G>A; p.R128H; 1:64873470-64873470	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.911C>T; p.S304L; 1:64866945-64866945	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2795T>G; p.L932R; 1:64839650-64839650	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1927A>G; p.R643G; 1:64846709-64846709	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.762G>A; p.K254K; 1:64867094-64867094	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1256C>T; p.A419V; 1:64860183-64860183	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.928G>A; p.V310I; 1:64866928-64866928	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.810C>A; p.Y270*; 1:64867046-64867046	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2480G>A; p.C827Y; 1:64841525-64841525	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.520C>T; p.R174*; 1:64869438-64869438	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.274A>G; p.N92D; 1:64879080-64879080	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2997C>T; p.Y999Y; 1:64838075-64838075	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1685A>G; p.Q562R; 1:64850874-64850874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3100T>A; p.Y1034N; 1:64837972-64837972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3141-1G>T; p.?; 1:64836216-64836216	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2369G>A; p.G790D; 1:64844098-64844098	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.464T>C; p.L155P; 1:64873389-64873389	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2263C>T; p.R755*; 1:64844204-64844204	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2515C>T; p.R839*; 1:64841490-64841490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1972G>T; p.V658F; 1:64846664-64846664	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1972G>T; p.V658F; 1:64846664-64846664	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1972G>T; p.V658F; 1:64846664-64846664	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1972G>T; p.V658F; 1:64846664-64846664	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2635C>T; p.R879C; 1:64841259-64841259	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2635C>T; p.R879C; 1:64841259-64841259	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1692G>T; p.W564C; 1:64850867-64850867	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2185A>T; p.S729C; 1:64844820-64844820	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2689G>A; p.E897K; 1:64839756-64839756	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1944A>C; p.K648N; 1:64846692-64846692	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1937C>T; p.S646F; 1:64846699-64846699	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1871_1885del15; p.L624_R629>W; 1:64847546-64847560	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Complex - deletion inframe
c.2202C>A; p.F734L; 1:64844803-64844803	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1891_1892insGAGGGA; p.D630_I631insRG; 1:64847539-64847540	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.2108G>C; p.S703T; 1:64845520-64845520	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.2108G>C; p.S703T; 1:64845520-64845520	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1130T>A; p.I377K; 1:64864833-64864833	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2695G>A; p.D899N; 1:64839750-64839750	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2705G>T; p.G902V; 1:64839740-64839740	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.991-6T>C; p.?; 1:64864978-64864978	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Unknown
c.3290G>A; p.G1097D; 1:64835475-64835475	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.1954T>C; p.Y652H; 1:64846682-64846682	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1810G>T; p.D604Y; 1:64847621-64847621	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2347C>T; p.L783F; 1:64844120-64844120	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2347C>T; p.L783F; 1:64844120-64844120	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2108G>T; p.S703I; 1:64845520-64845520	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2108G>T; p.S703I; 1:64845520-64845520	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2108G>T; p.S703I; 1:64845520-64845520	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2108G>T; p.S703I; 1:64845520-64845520	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.212C>G; p.S71C; 1:64879142-64879142	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.3035A>G; p.E1012G; 1:64838037-64838037	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1892_1893insGAGGGA; p.I631>MRD; 1:64847538-64847539	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.1975C>T; p.R659C; 1:64846661-64846661	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome	Substitution - Missense
c.2702C>G; p.T901R; 1:64839743-64839743	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.3032_3033insAACG; p.E1012fs*2; 1:64838039-64838040	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.2171G>A; p.R724H; 1:64844834-64844834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2171G>A; p.R724H; 1:64844834-64844834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2171G>A; p.R724H; 1:64844834-64844834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2171G>A; p.R724H; 1:64844834-64844834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2171G>A; p.R724H; 1:64844834-64844834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.2171G>A; p.R724H; 1:64844834-64844834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2171G>A; p.R724H; 1:64844834-64844834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2171G>A; p.R724H; 1:64844834-64844834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2171G>A; p.R724H; 1:64844834-64844834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1105T>A; p.F369I; 1:64864858-64864858	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.243T>A; p.Y81*; 1:64879111-64879111	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2672T>A; p.L891H; 1:64839773-64839773	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.278G>A; p.R93H; 1:64879076-64879076	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3109G>A; p.V1037I; 1:64837963-64837963	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2951C>T; p.A984V; 1:64838481-64838481	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.575T>A; p.M192K; 1:64869383-64869383	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.825A>C; p.E275D; 1:64867031-64867031	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.825A>C; p.E275D; 1:64867031-64867031	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1289delC; p.P430fs*2; 1:64860150-64860150	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1289delC; p.P430fs*2; 1:64860150-64860150	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1100C>G; p.S367C; 1:64864863-64864863	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3078A>G; p.K1026K; 1:64837994-64837994	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2779G>A; p.E927K; 1:64839666-64839666	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2394G>A; p.T798T; 1:64844073-64844073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.843C>T; p.Y281Y; 1:64867013-64867013	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1123A>G; p.I375V; 1:64864840-64864840	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1778C>T; p.T593M; 1:64847653-64847653	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2689G>A; p.E897K; 1:64839756-64839756	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2689G>A; p.E897K; 1:64839756-64839756	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1096T>G; p.F366V; 1:64864867-64864867	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3345G>A; p.P1115P; 1:64835420-64835420	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2264G>A; p.R755Q; 1:64844203-64844203	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2264G>A; p.R755Q; 1:64844203-64844203	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1035_1036insA; p.L346fs*4; 1:64864927-64864928	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2345C>T; p.T782M; 1:64844122-64844122	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2199A>G; p.P733P; 1:64844806-64844806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1432A>G; p.T478A; 1:64857682-64857682	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1599G>A; p.T533T; 1:64855558-64855558	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2953G>T; p.V985F; 1:64838479-64838479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.425delA; p.K142fs*26; 1:64873428-64873428	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3277G>T; p.G1093C; 1:64835488-64835488	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2107A>G; p.S703G; 1:64845521-64845521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2041C>T; p.R681W; 1:64845587-64845587	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2041C>T; p.R681W; 1:64845587-64845587	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3151G>C; p.E1051Q; 1:64836205-64836205	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1981G>A; p.V661M; 1:64846655-64846655	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1965C>T; p.G655G; 1:64846671-64846671	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.913A>G; p.N305D; 1:64866943-64866943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1297G>A; p.V433I; 1:64860142-64860142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2346G>A; p.T782T; 1:64844121-64844121	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2049C>T; p.S683S; 1:64845579-64845579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2839G>A; p.D947N; 1:64839606-64839606	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.246C>T; p.D82D; 1:64879108-64879108	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1028G>A; p.R343Q; 1:64864935-64864935	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2580_2581insA; p.P861fs*4; 1:64841313-64841314	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.928G>A; p.V310I; 1:64866928-64866928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.928G>A; p.V310I; 1:64866928-64866928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1713C>T; p.S571S; 1:64850846-64850846	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1591C>A; p.L531M; 1:64855566-64855566	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.310C>T; p.R104W; 1:64879044-64879044	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.360C>T; p.N120N; 1:64873493-64873493	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2206A>G; p.K736E; 1:64844799-64844799	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2813T>C; p.V938A; 1:64839632-64839632	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.520C>T; p.R174*; 1:64869438-64869438	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.736delG; p.D246fs*3; 1:64867120-64867120	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1139C>A; p.S380Y; 1:64864824-64864824	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1016delA; p.N339fs*3; 1:64864947-64864947	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1345G>A; p.A449T; 1:64857769-64857769	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.534C>T; p.T178T; 1:64869424-64869424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1581G>T; p.K527N; 1:64855576-64855576	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2094G>A; p.L698L; 1:64845534-64845534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2483T>C; p.M828T; 1:64841522-64841522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2483T>C; p.M828T; 1:64841522-64841522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2483T>C; p.M828T; 1:64841522-64841522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1978G>A; p.D660N; 1:64846658-64846658	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1594C>T; p.R532C; 1:64855563-64855563	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2842G>A; p.G948R; 1:64839603-64839603	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2842G>A; p.G948R; 1:64839603-64839603	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2580delA; p.K860fs*16; 1:64841314-64841314	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2580delA; p.K860fs*16; 1:64841314-64841314	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2580delA; p.K860fs*16; 1:64841314-64841314	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3094_3096delAAG; p.K1032delK; 1:64837976-64837978	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1595G>A; p.R532H; 1:64855562-64855562	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1595G>A; p.R532H; 1:64855562-64855562	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2705G>A; p.G902E; 1:64839740-64839740	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2185A>T; p.S729C; 1:64844820-64844820	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2185A>T; p.S729C; 1:64844820-64844820	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2649+6T>C; p.?; 1:64841239-64841239	liver	carcinoma	Unknown
c.679A>G; p.K227E; 1:64867177-64867177	liver	carcinoma	Substitution - Missense
c.679A>G; p.K227E; 1:64867177-64867177	liver	carcinoma	Substitution - Missense
c.1933G>T; p.V645F; 1:64846703-64846703	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1933G>T; p.V645F; 1:64846703-64846703	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2170C>T; p.R724C; 1:64844835-64844835	liver	carcinoma	Substitution - Missense
c.2729T>C; p.L910P; 1:64839716-64839716	liver	carcinoma	Substitution - Missense
c.2729T>C; p.L910P; 1:64839716-64839716	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2729T>C; p.L910P; 1:64839716-64839716	liver	carcinoma	Substitution - Missense
c.725A>G; p.N242S; 1:64867131-64867131	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2108G>T; p.S703I; 1:64845520-64845520	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2108G>T; p.S703I; 1:64845520-64845520	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2108G>T; p.S703I; 1:64845520-64845520	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2370C>T; p.G790G; 1:64844097-64844097	liver	carcinoma	Substitution - coding silent
c.1932G>T; p.Q644H; 1:64846704-64846704	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1932G>T; p.Q644H; 1:64846704-64846704	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.18A>T; p.I6I; 1:64883464-64883464	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2501A>G; p.Q834R; 1:64841504-64841504	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.814G>T; p.A272S; 1:64867042-64867042	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3459A>T; p.L1153F; 1:64834568-64834568	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1488G>C; p.K496N; 1:64855669-64855669	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2345C>T; p.T782M; 1:64844122-64844122	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2778C>T; p.I926I; 1:64839667-64839667	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1203G>T; p.E401D; 1:64860236-64860236	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2281C>T; p.P761S; 1:64844186-64844186	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3305C>A; p.T1102K; 1:64835460-64835460	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2484G>A; p.M828I; 1:64841521-64841521	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1344C>T; p.Y448Y; 1:64857770-64857770	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.367G>T; p.E123*; 1:64873486-64873486	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.23A>G; p.E8G; 1:64883459-64883459	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1978G>C; p.D660H; 1:64846658-64846658	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2118G>A; p.E706E; 1:64844887-64844887	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1281_1282insC; p.A428fs*25; 1:64860157-64860158	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1395G>C; p.L465L; 1:64857719-64857719	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2498A>C; p.N833T; 1:64841507-64841507	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.418A>T; p.K140*; 1:64873435-64873435	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.418A>T; p.K140*; 1:64873435-64873435	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.850G>A; p.E284K; 1:64867006-64867006	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3421A>T; p.S1141C; 1:64834606-64834606	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1276G>T; p.D426Y; 1:64860163-64860163	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2447C>G; p.S816*; 1:64841558-64841558	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1976G>A; p.R659H; 1:64846660-64846660	NS	malignant_melanoma	Substitution - Missense
c.578C>T; p.A193V; 1:64869380-64869380	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3083_3086delTTGA; p.I1028fs*25; 1:64837986-64837989	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3122G>A; p.R1041Q; 1:64837950-64837950	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2477G>A; p.R826H; 1:64841528-64841528	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1390G>A; p.V464M; 1:64857724-64857724	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.117C>A; p.I39I; 1:64883365-64883365	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.919G>A; p.G307S; 1:64866937-64866937	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2246G>C; p.R749T; 1:64844759-64844759	ovary	other; neoplasm	Substitution - Missense
c.1434C>T; p.T478T; 1:64857680-64857680	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.9T>C; p.Y3Y; 1:64883473-64883473	ovary	other; neoplasm	Substitution - coding silent
c.323G>A; p.R108Q; 1:64879031-64879031	ovary	other; neoplasm	Substitution - Missense
c.573G>A; p.G191G; 1:64869385-64869385	ovary	other; neoplasm	Substitution - coding silent
c.1289delC; p.P430fs*2; 1:64860150-64860150	pancreas	carcinoma; acinar_carcinoma	Deletion - Frameshift
c.3032T>A; p.V1011D; 1:64838040-64838040	pancreas	carcinoma	Substitution - Missense
c.425delA; p.K142fs*26; 1:64873428-64873428	pancreas	carcinoma; acinar_carcinoma	Deletion - Frameshift
c.1328C>T; p.P443L; 1:64860111-64860111	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2083G>A; p.A695T; 1:64845545-64845545	pancreas	carcinoma	Substitution - Missense
c.2083G>A; p.A695T; 1:64845545-64845545	pancreas	carcinoma	Substitution - Missense
c.1899+4A>C; p.?; 1:64847528-64847528	pancreas	carcinoma	Unknown
c.1479G>T; p.K493N; 1:64855678-64855678	pancreas	carcinoma	Substitution - Missense
c.2905C>A; p.P969T; 1:64838527-64838527	parathyroid	carcinoma	Substitution - Missense
c.2325C>G; p.D775E; 1:64844142-64844142	pleura	pulmonary_blastoma	Substitution - Missense
c.3375T>G; p.Y1125*; 1:64834652-64834652	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.562G>A; p.E188K; 1:64869396-64869396	prostate	carcinoma	Substitution - Missense
c.3174T>G; p.F1058L; 1:64836182-64836182	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1204G>C; p.A402P; 1:64860235-64860235	prostate	carcinoma	Substitution - Missense
c.1289_1290insC; p.L431fs*22; 1:64860149-64860150	prostate	carcinoma	Insertion - Frameshift
c.1289_1290insC; p.L431fs*22; 1:64860149-64860150	prostate	carcinoma	Insertion - Frameshift
c.1289_1290insC; p.L431fs*22; 1:64860149-64860150	prostate	carcinoma	Insertion - Frameshift
c.2222G>A; p.G741D; 1:64844783-64844783	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2968G>A; p.G990R; 1:64838104-64838104	skin; trunk	malignant_melanoma	Substitution - Missense
c.1549C>T; p.P517S; 1:64855608-64855608	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1193C>T; p.S398F; 1:64860246-64860246	skin	malignant_melanoma	Substitution - Missense
c.305C>T; p.S102F; 1:64879049-64879049	skin	malignant_melanoma	Substitution - Missense
c.41C>T; p.A14V; 1:64883441-64883441	skin	malignant_melanoma	Substitution - Missense
c.866C>T; p.S289F; 1:64866990-64866990	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3090C>T; p.T1030T; 1:64837982-64837982	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.69G>A; p.K23K; 1:64883413-64883413	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1288C>T; p.P430S; 1:64860151-64860151	skin	malignant_melanoma	Substitution - Missense
c.998C>T; p.S333F; 1:64864965-64864965	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2798A>T; p.Y933F; 1:64839647-64839647	skin	malignant_melanoma	Substitution - Missense
c.448C>A; p.L150I; 1:64873405-64873405	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.786C>T; p.S262S; 1:64867070-64867070	skin	malignant_melanoma	Substitution - coding silent
c.1030A>G; p.K344E; 1:64864933-64864933	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3004C>T; p.R1002W; 1:64838068-64838068	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.425delA; p.K142fs*26; 1:64873428-64873428	stomach	adenocarcinoma	Deletion - Frameshift
c.2195G>A; p.G732D; 1:64844810-64844810	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3369G>T; p.E1123D; 1:64835396-64835396	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.246C>T; p.D82D; 1:64879108-64879108	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.928G>A; p.V310I; 1:64866928-64866928	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2270C>T; p.P757L; 1:64844197-64844197	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1434C>T; p.T478T; 1:64857680-64857680	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1833T>G; p.T611T; 1:64847598-64847598	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2117A>C; p.E706A; 1:64844888-64844888	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3169A>G; p.K1057E; 1:64836187-64836187	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2433G>A; p.R811R; 1:64841572-64841572	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2931C>G; p.L977L; 1:64838501-64838501	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.877A>T; p.I293F; 1:64866979-64866979	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.605T>C; p.M202T; 1:64869353-64869353	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1624C>T; p.R542C; 1:64855533-64855533	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2580delA; p.K860fs*16; 1:64841314-64841314	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.561C>T; p.N187N; 1:64869397-64869397	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2290G>A; p.V764I; 1:64844177-64844177	thyroid	carcinoma	Substitution - Missense
c.2049C>T; p.S683S; 1:64845579-64845579	thyroid	other; neoplasm	Substitution - coding silent
c.1709T>C; p.M570T; 1:64850850-64850850	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1842G>A; p.E614E; 1:64847589-64847589	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.620A>T; p.Q207L; 1:64869338-64869338	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.120C>T; p.F40F; 1:64883362-64883362	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2940G>T; p.Q980H; 1:64838492-64838492	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2572G>C; p.E858Q; 1:64841322-64841322	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2598C>T; p.D866D; 1:64841296-64841296	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2598C>T; p.D866D; 1:64841296-64841296	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.199G>A; p.A67T; 1:64883283-64883283	urinary_tract; bladder	carcinoma	Substitution - Missense
c.199G>A; p.A67T; 1:64883283-64883283	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1649-1G>A; p.?; 1:64850911-64850911	urinary_tract; bladder	carcinoma	Unknown
c.2989C>T; p.R997W; 1:64838083-64838083	urinary_tract; bladder	carcinoma	Substitution - Missense
c.638A>G; p.K213R; 1:64869320-64869320	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.638A>G; p.K213R; 1:64869320-64869320	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2939A>T; p.Q980L; 1:64838493-64838493	urinary_tract; bladder	carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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