Entrez Gene

Basic Information
Gene ID	26166
Name	RGS22
Synonymous	regulator of G-protein signaling 22;RGS22;regulator of G-protein signaling 22
Definition	-
Position	8q22.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.3670C>G; p.L1224V; 8:99962924-99962924	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1706T>A; p.L569*; 8:100047580-100047580	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1170G>C; p.E390D; 8:100063598-100063598	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2949+1G>T; p.?; 8:99999261-99999261	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3006C>T; p.I1002I; 8:99996474-99996474	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2816G>A; p.G939E; 8:99999395-99999395	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3006C>T; p.I1002I; 8:99996474-99996474	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3417G>T; p.K1139N; 8:99978019-99978019	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1709C>T; p.S570L; 8:100047577-100047577	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.186A>C; p.Q62H; 8:100080287-100080287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2429A>G; p.K810R; 8:100006042-100006042	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1259A>C; p.K420T; 8:100063509-100063509	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2665C>T; p.R889W; 8:100002327-100002327	skin	malignant_melanoma	Substitution - Missense
c.1441G>C; p.D481H; 8:100062664-100062664	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1962T>G; p.G654G; 8:100040064-100040064	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.767delA; p.K256fs*9; 8:100064001-100064001	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.935G>C; p.C312S; 8:100063833-100063833	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2742delA; p.K914fs*18; 8:100002250-100002250	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2533C>T; p.P845S; 8:100004020-100004020	skin	malignant_melanoma	Substitution - Missense
c.2742delA; p.K914fs*18; 8:100002250-100002250	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2392G>T; p.D798Y; 8:100006079-100006079	liver	carcinoma	Substitution - Missense
c.2392G>T; p.D798Y; 8:100006079-100006079	liver	carcinoma	Substitution - Missense
c.3706G>T; p.A1236S; 8:99962888-99962888	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2742delA; p.K914fs*18; 8:100002250-100002250	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2533C>T; p.P845S; 8:100004020-100004020	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.580G>A; p.V194I; 8:100071383-100071383	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.580G>A; p.V194I; 8:100071383-100071383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.786C>A; p.N262K; 8:100063982-100063982	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.580G>A; p.V194I; 8:100071383-100071383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.223C>T; p.Q75*; 8:100080250-100080250	skin	malignant_melanoma	Substitution - Nonsense
c.193G>A; p.E65K; 8:100080280-100080280	skin	malignant_melanoma	Substitution - Missense
c.2814G>T; p.W938C; 8:99999397-99999397	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3272C>G; p.A1091G; 8:99982025-99982025	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1239G>T; p.K413N; 8:100063529-100063529	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1517C>T; p.A506V; 8:100052974-100052974	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.98A>C; p.N33T; 8:100093466-100093466	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.98A>C; p.N33T; 8:100093466-100093466	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1639C>A; p.L547I; 8:100052852-100052852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1644G>T; p.L548F; 8:100052847-100052847	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.393_397delATTTC; p.F132fs*3; 8:100072173-100072177	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.3139G>A; p.E1047K; 8:99987499-99987499	ovary	other; neoplasm	Substitution - Missense
c.2812T>G; p.W938G; 8:99999399-99999399	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3222G>A; p.K1074K; 8:99982075-99982075	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3486A>C; p.K1162N; 8:99977950-99977950	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.875G>C; p.R292T; 8:100063893-100063893	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1641C>G; p.L547L; 8:100052850-100052850	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1190G>T; p.R397M; 8:100063578-100063578	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.359G>A; p.G120D; 8:100072211-100072211	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.359G>A; p.G120D; 8:100072211-100072211	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2277delT; p.F759fs*20; 8:100008459-100008459	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3068G>A; p.R1023H; 8:99987570-99987570	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3068G>A; p.R1023H; 8:99987570-99987570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.726G>T; p.E242D; 8:100064042-100064042	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3068G>A; p.R1023H; 8:99987570-99987570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.552T>C; p.D184D; 8:100071411-100071411	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2679C>A; p.Y893*; 8:100002313-100002313	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.456G>T; p.W152C; 8:100071507-100071507	breast	carcinoma	Substitution - Missense
c.1689_1689+1GG>TT; p.?; 8:100052801-100052802	lung	carcinoma; adenocarcinoma	Unknown
c.1908T>C; p.D636D; 8:100041832-100041832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.379G>A; p.E127K; 8:100072191-100072191	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.2743T>C; p.Y915H; 8:100002249-100002249	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1893C>G; p.L631L; 8:100041847-100041847	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2341G>A; p.D781N; 8:100008395-100008395	breast	carcinoma	Substitution - Missense
c.2367G>A; p.E789E; 8:100006104-100006104	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.91T>C; p.Y31H; 8:100093473-100093473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3295G>C; p.E1099Q; 8:99982002-99982002	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2128G>T; p.E710*; 8:100038969-100038969	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3158G>T; p.W1053L; 8:99987480-99987480	thyroid	other; neoplasm	Substitution - Missense
c.665C>T; p.S222L; 8:100066226-100066226	skin	malignant_melanoma	Substitution - Missense
c.35C>T; p.T12I; 8:100105393-100105393	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3128G>A; p.G1043E; 8:99987510-99987510	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3120T>A; p.A1040A; 8:99987518-99987518	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3120T>A; p.A1040A; 8:99987518-99987518	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3128G>A; p.G1043E; 8:99987510-99987510	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.543T>C; p.T181T; 8:100071420-100071420	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3128G>A; p.G1043E; 8:99987510-99987510	skin; trunk	malignant_melanoma	Substitution - Missense
c.680T>C; p.V227A; 8:100066211-100066211	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1698A>C; p.E566D; 8:100047588-100047588	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2827C>T; p.H943Y; 8:99999384-99999384	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2827C>T; p.H943Y; 8:99999384-99999384	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2259A>G; p.P753P; 8:100008477-100008477	skin	malignant_melanoma	Substitution - coding silent
c.3414G>A; p.R1138R; 8:99978022-99978022	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1221T>C; p.Y407Y; 8:100063547-100063547	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1221T>C; p.Y407Y; 8:100063547-100063547	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1582C>T; p.H528Y; 8:100052909-100052909	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3321C>G; p.H1107Q; 8:99981976-99981976	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.238C>T; p.P80S; 8:100080235-100080235	skin	malignant_melanoma	Substitution - Missense
c.3414G>A; p.R1138R; 8:99978022-99978022	skin	malignant_melanoma	Substitution - coding silent
c.2011G>A; p.E671K; 8:100040015-100040015	breast	carcinoma	Substitution - Missense
c.2908T>C; p.F970L; 8:99999303-99999303	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1193C>T; p.A398V; 8:100063575-100063575	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.581T>A; p.V194E; 8:100071382-100071382	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1589G>A; p.R530H; 8:100052902-100052902	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3435_3437delTAT; p.I1146delI; 8:99977999-99978001	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Deletion - In frame
c.3118G>A; p.A1040T; 8:99987520-99987520	skin; trunk	malignant_melanoma	Substitution - Missense
c.3225G>T; p.K1075N; 8:99982072-99982072	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.897G>A; p.Q299Q; 8:100063871-100063871	skin	malignant_melanoma	Substitution - coding silent
c.1930G>T; p.E644*; 8:100041810-100041810	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1267A>G; p.K423E; 8:100063501-100063501	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3658G>A; p.E1220K; 8:99962936-99962936	skin	malignant_melanoma	Substitution - Missense
c.3488delT; p.L1163fs*4; 8:99977948-99977948	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1618C>A; p.P540T; 8:100052873-100052873	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3488delT; p.L1163fs*4; 8:99977948-99977948	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1638C>A; p.T546T; 8:100052853-100052853	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.323T>G; p.V108G; 8:100080150-100080150	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3682G>A; p.E1228K; 8:99962912-99962912	skin	malignant_melanoma	Substitution - Missense
c.1360G>A; p.E454K; 8:100062745-100062745	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1514+7A>G; p.?; 8:100062584-100062584	ovary	other; neoplasm	Unknown
c.355G>T; p.E119*; 8:100072215-100072215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.49G>T; p.E17*; 8:100105379-100105379	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.831G>A; p.E277E; 8:100063937-100063937	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.49G>T; p.E17*; 8:100105379-100105379	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.839T>C; p.V280A; 8:100063929-100063929	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>T; p.E17*; 8:100105379-100105379	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3110G>A; p.R1037H; 8:99987528-99987528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2911C>T; p.L971F; 8:99999300-99999300	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3698delA; p.K1233fs*21; 8:99962896-99962896	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.833T>G; p.V278G; 8:100063935-100063935	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2669G>C; p.R890T; 8:100002323-100002323	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1523G>T; p.R508I; 8:100052968-100052968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.235A>T; p.N79Y; 8:100080238-100080238	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.3486_3487insA; p.L1163fs*32; 8:99977949-99977950	skin	malignant_melanoma	Insertion - Frameshift
c.1681G>A; p.E561K; 8:100052810-100052810	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3486_3487insA; p.L1163fs*32; 8:99977949-99977950	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1948G>A; p.V650M; 8:100040078-100040078	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2510G>A; p.R837Q; 8:100004043-100004043	skin	malignant_melanoma	Substitution - Missense
c.2510G>A; p.R837Q; 8:100004043-100004043	skin	malignant_melanoma	Substitution - Missense
c.2510G>A; p.R837Q; 8:100004043-100004043	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2510G>A; p.R837Q; 8:100004043-100004043	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2510G>A; p.R837Q; 8:100004043-100004043	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2247G>A; p.M749I; 8:100008489-100008489	skin	malignant_melanoma	Substitution - Missense
c.2666G>A; p.R889Q; 8:100002326-100002326	skin	malignant_melanoma	Substitution - Missense
c.1051G>T; p.V351L; 8:100063717-100063717	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1786T>A; p.Y596N; 8:100047500-100047500	liver	carcinoma	Substitution - Missense
c.581T>C; p.V194A; 8:100071382-100071382	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.581T>C; p.V194A; 8:100071382-100071382	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1786T>A; p.Y596N; 8:100047500-100047500	liver	carcinoma	Substitution - Missense
c.581T>C; p.V194A; 8:100071382-100071382	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.581T>C; p.V194A; 8:100071382-100071382	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3580G>A; p.D1194N; 8:99965370-99965370	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.953C>T; p.S318F; 8:100063815-100063815	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.584C>T; p.S195L; 8:100071379-100071379	skin	malignant_melanoma	Substitution - Missense
c.1917C>T; p.Y639Y; 8:100041823-100041823	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.827A>G; p.E276G; 8:100063941-100063941	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1917C>T; p.Y639Y; 8:100041823-100041823	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1858C>G; p.H620D; 8:100041882-100041882	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1917C>T; p.Y639Y; 8:100041823-100041823	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.258G>A; p.R86R; 8:100080215-100080215	skin	malignant_melanoma	Substitution - coding silent
c.1123G>A; p.E375K; 8:100063645-100063645	skin	malignant_melanoma	Substitution - Missense
c.2687G>A; p.R896Q; 8:100002305-100002305	skin	malignant_melanoma	Substitution - Missense
c.2687G>A; p.R896Q; 8:100002305-100002305	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2123A>G; p.Y708C; 8:100038974-100038974	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1220A>G; p.Y407C; 8:100063548-100063548	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.567G>A; p.M189I; 8:100071396-100071396	skin	malignant_melanoma	Substitution - Missense
c.2423T>C; p.L808S; 8:100006048-100006048	skin	malignant_melanoma	Substitution - Missense
c.2379A>T; p.E793D; 8:100006092-100006092	skin	malignant_melanoma	Substitution - Missense
c.2481C>T; p.G827G; 8:100004072-100004072	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.454T>A; p.W152R; 8:100071509-100071509	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3611G>A; p.R1204Q; 8:99965339-99965339	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3486delA; p.K1162fs*5; 8:99977950-99977950	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.751C>T; p.H251Y; 8:100064017-100064017	skin	malignant_melanoma	Substitution - Missense
c.3486delA; p.K1162fs*5; 8:99977950-99977950	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3486delA; p.K1162fs*5; 8:99977950-99977950	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3486delA; p.K1162fs*5; 8:99977950-99977950	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.2029T>G; p.F677V; 8:100039997-100039997	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3486delA; p.K1162fs*5; 8:99977950-99977950	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3486delA; p.K1162fs*5; 8:99977950-99977950	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3486delA; p.K1162fs*5; 8:99977950-99977950	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3486delA; p.K1162fs*5; 8:99977950-99977950	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3486delA; p.K1162fs*5; 8:99977950-99977950	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2029T>G; p.F677V; 8:100039997-100039997	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3486delA; p.K1162fs*5; 8:99977950-99977950	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.713C>A; p.S238*; 8:100066178-100066178	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3298C>T; p.Q1100*; 8:99981999-99981999	breast	carcinoma	Substitution - Nonsense
c.2195C>T; p.S732F; 8:100008541-100008541	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.36T>A; p.T12T; 8:100105392-100105392	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3109C>T; p.R1037C; 8:99987529-99987529	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3109C>T; p.R1037C; 8:99987529-99987529	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.850G>C; p.D284H; 8:100063918-100063918	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3694A>G; p.K1232E; 8:99962900-99962900	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1374delA; p.K458fs*4; 8:100062731-100062731	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3234T>C; p.T1078T; 8:99982063-99982063	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.891G>A; p.K297K; 8:100063877-100063877	skin	malignant_melanoma	Substitution - coding silent
c.891G>A; p.K297K; 8:100063877-100063877	skin	malignant_melanoma	Substitution - coding silent
c.426G>T; p.R142S; 8:100071537-100071537	liver	carcinoma	Substitution - Missense
c.2070G>A; p.W690*; 8:100039027-100039027	skin	malignant_melanoma	Substitution - Nonsense
c.3776C>T; p.A1259V; 8:99962701-99962701	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1946C>T; p.T649I; 8:100040080-100040080	skin	malignant_melanoma	Substitution - Missense
c.3652G>C; p.E1218Q; 8:99962942-99962942	oesophagus	carcinoma	Substitution - Missense
c.2210T>C; p.I737T; 8:100008526-100008526	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3039C>A; p.I1013I; 8:99987599-99987599	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2379A>G; p.E793E; 8:100006092-100006092	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2683G>T; p.D895Y; 8:100002309-100002309	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1822G>T; p.G608W; 8:100047464-100047464	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2340G>A; p.S780S; 8:100008396-100008396	breast	carcinoma	Substitution - coding silent
c.1541C>G; p.S514*; 8:100052950-100052950	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.534T>C; p.P178P; 8:100071429-100071429	breast	carcinoma	Substitution - coding silent
c.2161G>A; p.A721T; 8:100038936-100038936	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1785G>T; p.L595F; 8:100047501-100047501	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.840A>G; p.V280V; 8:100063928-100063928	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3390C>A; p.F1130L; 8:99978046-99978046	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3662G>T; p.R1221I; 8:99962932-99962932	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3662G>T; p.R1221I; 8:99962932-99962932	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2308C>T; p.L770F; 8:100008428-100008428	skin	malignant_melanoma	Substitution - Missense
c.116C>A; p.P39Q; 8:100093448-100093448	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3181-3C>T; p.?; 8:99982119-99982119	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1221T>A; p.Y407*; 8:100063547-100063547	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1041T>C; p.N347N; 8:100063727-100063727	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1221T>A; p.Y407*; 8:100063547-100063547	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1686C>T; p.I562I; 8:100052805-100052805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.945T>G; p.F315L; 8:100063823-100063823	breast	carcinoma	Substitution - Missense
c.2153G>A; p.C718Y; 8:100038944-100038944	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.16C>G; p.L6V; 8:100105906-100105906	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3379C>T; p.L1127L; 8:99978057-99978057	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.436T>C; p.L146L; 8:100071527-100071527	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.607C>G; p.Q203E; 8:100066284-100066284	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2939A>G; p.Q980R; 8:99999272-99999272	pancreas	carcinoma	Substitution - Missense
c.484G>T; p.G162*; 8:100071479-100071479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.484G>T; p.G162*; 8:100071479-100071479	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2523G>T; p.W841C; 8:100004030-100004030	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3153C>T; p.L1051L; 8:99987485-99987485	skin	malignant_melanoma	Substitution - coding silent
c.513A>G; p.K171K; 8:100071450-100071450	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.383G>C; p.R128T; 8:100072187-100072187	breast	carcinoma	Substitution - Missense
c.1337C>T; p.P446L; 8:100063431-100063431	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3237T>C; p.I1079I; 8:99982060-99982060	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1394G>A; p.G465E; 8:100062711-100062711	skin	malignant_melanoma	Substitution - Missense
c.3322C>A; p.R1108R; 8:99981975-99981975	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2534C>T; p.P845L; 8:100004019-100004019	skin	malignant_melanoma	Substitution - Missense
c.2741A>C; p.K914T; 8:100002251-100002251	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.823G>A; p.E275K; 8:100063945-100063945	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1426A>T; p.K476*; 8:100062679-100062679	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2936G>A; p.R979H; 8:99999275-99999275	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2949G>T; p.K983N; 8:99999262-99999262	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1052T>C; p.V351A; 8:100063716-100063716	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3044C>T; p.S1015L; 8:99987594-99987594	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1052T>C; p.V351A; 8:100063716-100063716	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3068G>C; p.R1023P; 8:99987570-99987570	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.306A>G; p.E102E; 8:100080167-100080167	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2110C>G; p.H704D; 8:100038987-100038987	prostate	carcinoma	Substitution - Missense
c.267G>T; p.K89N; 8:100080206-100080206	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1414G>T; p.E472*; 8:100062691-100062691	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1774C>T; p.R592W; 8:100047512-100047512	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2609T>A; p.L870H; 8:100003944-100003944	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1774C>T; p.R592W; 8:100047512-100047512	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1774C>T; p.R592W; 8:100047512-100047512	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2609T>A; p.L870H; 8:100003944-100003944	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3667C>A; p.L1223I; 8:99962927-99962927	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3667C>A; p.L1223I; 8:99962927-99962927	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1774C>T; p.R592W; 8:100047512-100047512	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.113T>G; p.L38R; 8:100093451-100093451	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1553A>T; p.K518I; 8:100052938-100052938	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1235G>T; p.R412I; 8:100063533-100063533	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2108A>G; p.Y703C; 8:100038989-100038989	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3395C>T; p.P1132L; 8:99978041-99978041	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3168A>T; p.V1056V; 8:99987470-99987470	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1646C>T; p.P549L; 8:100052845-100052845	skin	malignant_melanoma	Substitution - Missense
c.50A>T; p.E17V; 8:100105378-100105378	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.81C>G; p.F27L; 8:100093483-100093483	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.233G>A; p.R78Q; 8:100080240-100080240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1240G>A; p.E414K; 8:100063528-100063528	skin	malignant_melanoma	Substitution - Missense
c.1130C>G; p.S377*; 8:100063638-100063638	breast	carcinoma	Substitution - Nonsense
c.3110G>T; p.R1037L; 8:99987528-99987528	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.233G>A; p.R78Q; 8:100080240-100080240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.700T>G; p.S234A; 8:100066191-100066191	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3111T>C; p.R1037R; 8:99987527-99987527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3111T>C; p.R1037R; 8:99987527-99987527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3649T>C; p.L1217L; 8:99962945-99962945	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.814G>A; p.E272K; 8:100063954-100063954	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.230C>A; p.P77H; 8:100080243-100080243	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.508G>A; p.V170M; 8:100071455-100071455	pancreas	carcinoma	Substitution - Missense
c.1465C>A; p.H489N; 8:100062640-100062640	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2722A>T; p.N908Y; 8:100002270-100002270	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1968G>T; p.L656F; 8:100040058-100040058	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2099T>G; p.L700R; 8:100038998-100038998	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1918G>A; p.A640T; 8:100041822-100041822	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3615+2T>A; p.?; 8:99965333-99965333	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Unknown
c.3140A>T; p.E1047V; 8:99987498-99987498	ovary	other; neoplasm	Substitution - Missense
c.23C>T; p.A8V; 8:100105899-100105899	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1156A>C; p.S386R; 8:100063612-100063612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1262T>G; p.F421C; 8:100063506-100063506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.214C>G; p.L72V; 8:100080259-100080259	breast	carcinoma	Substitution - Missense
c.2524G>A; p.D842N; 8:100004029-100004029	skin	malignant_melanoma	Substitution - Missense
c.112C>A; p.L38I; 8:100093452-100093452	skin; trunk	malignant_melanoma	Substitution - Missense
c.349C>T; p.R117C; 8:100072221-100072221	skin	malignant_melanoma	Substitution - Missense
c.1423T>C; p.S475P; 8:100062682-100062682	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1559C>T; p.A520V; 8:100052932-100052932	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2812T>C; p.W938R; 8:99999399-99999399	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1837T>C; p.S613P; 8:100041903-100041903	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.887A>C; p.E296A; 8:100063881-100063881	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2932G>A; p.A978T; 8:99999279-99999279	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.898G>A; p.D300N; 8:100063870-100063870	skin	malignant_melanoma	Substitution - Missense
c.2771C>T; p.S924F; 8:100002221-100002221	skin	malignant_melanoma	Substitution - Missense
c.43G>A; p.E15K; 8:100105385-100105385	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1219T>C; p.Y407H; 8:100063549-100063549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.576C>T; p.F192F; 8:100071387-100071387	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1930G>A; p.E644K; 8:100041810-100041810	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2266G>T; p.E756*; 8:100008470-100008470	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3443G>A; p.S1148N; 8:99977993-99977993	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3374G>T; p.G1125V; 8:99978062-99978062	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2433G>T; p.E811D; 8:100006038-100006038	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1205T>C; p.I402T; 8:100063563-100063563	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2764C>T; p.P922S; 8:100002228-100002228	skin	malignant_melanoma	Substitution - Missense
c.3103T>G; p.F1035V; 8:99987535-99987535	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3550G>T; p.V1184L; 8:99965400-99965400	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1089G>T; p.K363N; 8:100063679-100063679	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1750A>G; p.T584A; 8:100047536-100047536	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1089G>T; p.K363N; 8:100063679-100063679	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2344C>T; p.Q782*; 8:100008392-100008392	skin; arm	malignant_melanoma	Substitution - Nonsense
c.2958G>T; p.M986I; 8:99996522-99996522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.500C>T; p.P167L; 8:100071463-100071463	skin	malignant_melanoma	Substitution - Missense
c.1064A>T; p.D355V; 8:100063704-100063704	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1868C>G; p.S623C; 8:100041872-100041872	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3539C>T; p.A1180V; 8:99965411-99965411	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3474G>A; p.K1158K; 8:99977962-99977962	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.274G>T; p.V92F; 8:100080199-100080199	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3554C>A; p.P1185H; 8:99965396-99965396	thyroid	other; neoplasm	Substitution - Missense
c.2686C>T; p.R896*; 8:100002306-100002306	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.831G>T; p.E277D; 8:100063937-100063937	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2686C>T; p.R896*; 8:100002306-100002306	skin	malignant_melanoma	Substitution - Nonsense
c.464C>G; p.S155C; 8:100071499-100071499	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1603A>T; p.R535W; 8:100052888-100052888	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1603A>T; p.R535W; 8:100052888-100052888	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3041C>T; p.S1014F; 8:99987597-99987597	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2439T>A; p.F813L; 8:100006032-100006032	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2811C>T; p.G937G; 8:99999400-99999400	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.297C>T; p.A99A; 8:100080176-100080176	skin	malignant_melanoma	Substitution - coding silent
c.3106C>G; p.Q1036E; 8:99987532-99987532	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.81C>T; p.F27F; 8:100093483-100093483	skin	malignant_melanoma	Substitution - coding silent
c.2579A>C; p.K860T; 8:100003974-100003974	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2500G>A; p.V834I; 8:100004053-100004053	prostate	carcinoma	Substitution - Missense
c.1261T>C; p.F421L; 8:100063507-100063507	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2611G>C; p.E871Q; 8:100003942-100003942	liver	carcinoma	Substitution - Missense
c.2611G>C; p.E871Q; 8:100003942-100003942	liver	carcinoma	Substitution - Missense
c.805G>C; p.E269Q; 8:100063963-100063963	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.400G>A; p.E134K; 8:100072170-100072170	skin	malignant_melanoma	Substitution - Missense
c.3764_3765insA; p.N1256fs*>10; 8:99962712-99962713	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1619C>T; p.P540L; 8:100052872-100052872	skin	malignant_melanoma	Substitution - Missense
c.953C>G; p.S318C; 8:100063815-100063815	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.3505G>A; p.E1169K; 8:99977931-99977931	skin	malignant_melanoma	Substitution - Missense
c.940G>T; p.E314*; 8:100063828-100063828	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3518A>G; p.K1173R; 8:99977918-99977918	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.940G>T; p.E314*; 8:100063828-100063828	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense

COSMIC somatic mutation [Top]