Entrez Gene

Basic Information
Gene ID	55512
Name	SMPD3
Synonymous	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II);SMPD3;sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
Definition	nSMase-2\|neutral sphingomyelinase 2\|neutral sphingomyelinase II\|sphingomyelin phosphodiesterase 3
Position	16q22.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1651C>G; p.L551V; 16:68363554-68363554	skin	malignant_melanoma	Substitution - Missense
c.222G>A; p.S74S; 16:68371960-68371960	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.498G>A; p.Q166Q; 16:68371684-68371684	skin	malignant_melanoma	Substitution - coding silent
c.395G>A; p.C132Y; 16:68371787-68371787	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.597C>T; p.A199A; 16:68371585-68371585	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.258C>A; p.S86S; 16:68371924-68371924	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1177G>A; p.G393S; 16:68371005-68371005	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1671G>C; p.L557L; 16:68363534-68363534	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.491G>A; p.R164Q; 16:68371691-68371691	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1520T>C; p.V507A; 16:68364786-68364786	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1913A>C; p.D638A; 16:68361261-68361261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1913A>C; p.D638A; 16:68361261-68361261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1913A>C; p.D638A; 16:68361261-68361261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1913A>C; p.D638A; 16:68361261-68361261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1913A>C; p.D638A; 16:68361261-68361261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1913A>C; p.D638A; 16:68361261-68361261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1913A>C; p.D638A; 16:68361261-68361261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1913A>C; p.D638A; 16:68361261-68361261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1913A>C; p.D638A; 16:68361261-68361261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1913A>C; p.D638A; 16:68361261-68361261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1913A>C; p.D638A; 16:68361261-68361261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.780C>T; p.D260D; 16:68371402-68371402	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1913A>C; p.D638A; 16:68361261-68361261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1913A>C; p.D638A; 16:68361261-68361261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1913A>C; p.D638A; 16:68361261-68361261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1913A>C; p.D638A; 16:68361261-68361261	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.286A>C; p.I96L; 16:68371896-68371896	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.286A>C; p.I96L; 16:68371896-68371896	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1122G>A; p.L374L; 16:68371060-68371060	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1318C>A; p.L440I; 16:68370864-68370864	breast	carcinoma	Substitution - Missense
c.1408G>A; p.A470T; 16:68364898-68364898	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.882C>A; p.S294R; 16:68371300-68371300	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1540G>A; p.D514N; 16:68364766-68364766	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1540G>A; p.D514N; 16:68364766-68364766	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1646-3_1646-2insC; p.?; 16:68363561-68363562	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.807C>T; p.N269N; 16:68371375-68371375	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.733G>A; p.V245M; 16:68371449-68371449	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.807C>T; p.N269N; 16:68371375-68371375	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.43G>A; p.A15T; 16:68372139-68372139	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1309G>A; p.A437T; 16:68370873-68370873	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.252C>T; p.F84F; 16:68371930-68371930	skin	malignant_melanoma	Substitution - coding silent
c.579C>T; p.G193G; 16:68371603-68371603	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1077C>T; p.F359F; 16:68371105-68371105	skin	malignant_melanoma	Substitution - coding silent
c.456G>A; p.K152K; 16:68371726-68371726	skin	malignant_melanoma	Substitution - coding silent
c.1414C>T; p.R472W; 16:68364892-68364892	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.457G>A; p.E153K; 16:68371725-68371725	skin	malignant_melanoma	Substitution - Missense
c.1793T>C; p.L598P; 16:68361676-68361676	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.804G>A; p.R268R; 16:68371378-68371378	skin	malignant_melanoma	Substitution - coding silent
c.804G>A; p.R268R; 16:68371378-68371378	skin	malignant_melanoma	Substitution - coding silent
c.1883G>T; p.S628I; 16:68361291-68361291	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1883G>T; p.S628I; 16:68361291-68361291	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.859G>A; p.G287R; 16:68371323-68371323	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.348G>T; p.K116N; 16:68371834-68371834	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1071G>A; p.L357L; 16:68371111-68371111	skin	malignant_melanoma	Substitution - coding silent
c.1035C>T; p.F345F; 16:68371147-68371147	skin	malignant_melanoma	Substitution - coding silent
c.501C>A; p.I167I; 16:68371681-68371681	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.969C>T; p.L323L; 16:68371213-68371213	skin	malignant_melanoma	Substitution - coding silent
c.1904G>A; p.G635D; 16:68361270-68361270	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1176C>T; p.Y392Y; 16:68371006-68371006	skin	malignant_melanoma	Substitution - coding silent
c.1507G>A; p.A503T; 16:68364799-68364799	skin	malignant_melanoma	Substitution - Missense
c.1507G>A; p.A503T; 16:68364799-68364799	skin	malignant_melanoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	thyroid	other; neoplasm	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.656A>G; p.H219R; 16:68371526-68371526	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1916A>C; p.H639P; 16:68361258-68361258	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.43G>C; p.A15P; 16:68372139-68372139	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.359C>T; p.P120L; 16:68371823-68371823	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.893C>T; p.S298F; 16:68371289-68371289	skin	malignant_melanoma	Substitution - Missense
c.798G>A; p.Q266Q; 16:68371384-68371384	skin	malignant_melanoma	Substitution - coding silent
c.141G>A; p.Q47Q; 16:68372041-68372041	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1073A>G; p.D358G; 16:68371109-68371109	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.234G>A; p.A78A; 16:68371948-68371948	skin	malignant_melanoma	Substitution - coding silent
c.1371C>T; p.I457I; 16:68365045-68365045	skin	malignant_melanoma	Substitution - coding silent
c.1117A>T; p.K373*; 16:68371065-68371065	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1807G>A; p.G603S; 16:68361662-68361662	skin	malignant_melanoma	Substitution - Missense
c.1807G>A; p.G603S; 16:68361662-68361662	skin	malignant_melanoma	Substitution - Missense
c.1504G>A; p.V502M; 16:68364802-68364802	skin	malignant_melanoma	Substitution - Missense
c.1661C>T; p.T554M; 16:68363544-68363544	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1078C>T; p.L360L; 16:68371104-68371104	prostate	carcinoma	Substitution - coding silent
c.1933C>T; p.R645*; 16:68361241-68361241	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1137C>T; p.H379H; 16:68371045-68371045	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.45C>T; p.A15A; 16:68372137-68372137	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1249G>T; p.D417Y; 16:68370933-68370933	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.92T>G; p.V31G; 16:68372090-68372090	large_intestine; colon	NS	Substitution - Missense
c.1190G>A; p.C397Y; 16:68370992-68370992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1190G>A; p.C397Y; 16:68370992-68370992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.92T>G; p.V31G; 16:68372090-68372090	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.189C>T; p.F63F; 16:68371993-68371993	skin	malignant_melanoma	Substitution - coding silent
c.233C>T; p.A78V; 16:68371949-68371949	pancreas	carcinoma	Substitution - Missense
c.1455T>C; p.D485D; 16:68364851-68364851	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1355G>T; p.R452I; 16:68365061-68365061	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.137G>A; p.R46H; 16:68372045-68372045	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.414C>T; p.L138L; 16:68371768-68371768	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1164C>T; p.D388D; 16:68371018-68371018	breast	carcinoma	Substitution - coding silent
c.544G>A; p.A182T; 16:68371638-68371638	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.832C>T; p.Q278*; 16:68371350-68371350	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1306G>A; p.G436R; 16:68370876-68370876	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1955A>T; p.E652V; 16:68361219-68361219	skin; arm	malignant_melanoma	Substitution - Missense
c.1330G>A; p.V444M; 16:68365086-68365086	skin	malignant_melanoma	Substitution - Missense
c.947A>T; p.E316V; 16:68371235-68371235	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1781G>T; p.G594V; 16:68361688-68361688	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1429G>A; p.D477N; 16:68364877-68364877	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.576C>T; p.G192G; 16:68371606-68371606	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1672T>C; p.Y558H; 16:68363533-68363533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.577G>A; p.G193S; 16:68371605-68371605	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1684G>A; p.V562M; 16:68363521-68363521	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1301C>T; p.S434F; 16:68370881-68370881	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.492_493insC; p.Q166fs*18; 16:68371689-68371690	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1128G>T; p.E376D; 16:68371054-68371054	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.434T>A; p.F145Y; 16:68371748-68371748	urinary_tract; bladder	carcinoma	Substitution - Missense
c.795C>T; p.G265G; 16:68371387-68371387	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1535A>G; p.N512S; 16:68364771-68364771	central_nervous_system; brain	glioma	Substitution - Missense
c.702C>T; p.V234V; 16:68371480-68371480	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1729G>A; p.G577S; 16:68361740-68361740	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1814G>A; p.R605H; 16:68361655-68361655	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.745G>T; p.G249C; 16:68371437-68371437	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.732C>T; p.I244I; 16:68371450-68371450	liver	carcinoma	Substitution - coding silent
c.732C>T; p.I244I; 16:68371450-68371450	liver	carcinoma	Substitution - coding silent
c.521C>T; p.P174L; 16:68371661-68371661	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.498G>T; p.Q166H; 16:68371684-68371684	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.754G>A; p.G252S; 16:68371428-68371428	skin	malignant_melanoma	Substitution - Missense
c.490C>T; p.R164W; 16:68371692-68371692	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1408G>T; p.A470S; 16:68364898-68364898	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1113C>T; p.A371A; 16:68371069-68371069	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1102A>G; p.K368E; 16:68371080-68371080	skin; neck	malignant_melanoma	Substitution - Missense
c.736C>T; p.R246C; 16:68371446-68371446	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.202C>A; p.L68M; 16:68371980-68371980	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.221C>T; p.S74L; 16:68371961-68371961	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1021C>A; p.P341T; 16:68371161-68371161	oesophagus	carcinoma	Substitution - Missense
c.1241C>T; p.P414L; 16:68370941-68370941	skin	malignant_melanoma	Substitution - Missense
c.1285G>A; p.D429N; 16:68370897-68370897	skin	malignant_melanoma	Substitution - Missense
c.1241C>T; p.P414L; 16:68370941-68370941	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.221C>T; p.S74L; 16:68371961-68371961	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1839G>T; p.E613D; 16:68361630-68361630	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1645+2T>C; p.?; 16:68363775-68363775	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1013G>A; p.R338K; 16:68371169-68371169	skin	malignant_melanoma	Substitution - Missense
c.1146C>A; p.F382L; 16:68371036-68371036	breast	carcinoma	Substitution - Missense
c.258C>T; p.S86S; 16:68371924-68371924	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1696G>A; p.D566N; 16:68363509-68363509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1162G>A; p.D388N; 16:68371020-68371020	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1063G>A; p.A355T; 16:68371119-68371119	liver	carcinoma	Substitution - Missense
c.1940T>C; p.M647T; 16:68361234-68361234	pancreas	carcinoma	Substitution - Missense
c.1451_1452delCT; p.A484fs*21; 16:68364854-68364855	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1063G>A; p.A355T; 16:68371119-68371119	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.531C>T; p.T177T; 16:68371651-68371651	skin	malignant_melanoma	Substitution - coding silent
c.1063G>A; p.A355T; 16:68371119-68371119	liver	carcinoma	Substitution - Missense
c.825A>T; p.P275P; 16:68371357-68371357	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.207C>T; p.A69A; 16:68371975-68371975	skin	malignant_melanoma	Substitution - coding silent
c.598G>A; p.V200I; 16:68371584-68371584	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1891A>C; p.T631P; 16:68361283-68361283	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1891A>C; p.T631P; 16:68361283-68361283	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1891A>C; p.T631P; 16:68361283-68361283	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1891A>C; p.T631P; 16:68361283-68361283	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1891A>C; p.T631P; 16:68361283-68361283	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.946G>A; p.E316K; 16:68371236-68371236	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.355G>A; p.G119R; 16:68371827-68371827	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1610G>A; p.R537H; 16:68363812-68363812	small_intestine	carcinoid-endocrine_tumour	Substitution - Missense
c.1662G>A; p.T554T; 16:68363543-68363543	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.15G>A; p.T5T; 16:68372167-68372167	skin	malignant_melanoma	Substitution - coding silent
c.692G>A; p.G231E; 16:68371490-68371490	skin	malignant_melanoma	Substitution - Missense
c.1726G>A; p.E576K; 16:68361743-68361743	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1726G>A; p.E576K; 16:68361743-68361743	urinary_tract; bladder	carcinoma	Substitution - Missense
c.794G>A; p.G265D; 16:68371388-68371388	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1784_1792delGGAAGGAGC; p.R595_E597delRKE; 16:68361677-68361685	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame

COSMIC somatic mutation [Top]