Entrez Gene

Basic Information
Gene ID	93492
Name	TPTE2
Synonymous	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2;TPTE2;transmembrane phosphoinositide 3-phosphatase and tensin homolog 2
Definition	PTEN-like inositol lipid phosphatase\|TPIP lipid phosphatase\|TPTE and PTEN homologous inositol lipid phosphatase\|lipid phosphatase TPIP\|phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2\|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase TPTE
Position	13q12.11
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.10.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1232A>G; p.N411S; 13:19424950-19424950	liver	carcinoma	Substitution - Missense
c.1232A>G; p.N411S; 13:19424950-19424950	liver	carcinoma	Substitution - Missense
c.1120G>C; p.G374R; 13:19426469-19426469	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1075T>C; p.L359L; 13:19426514-19426514	skin	malignant_melanoma	Substitution - coding silent
c.899G>C; p.G300A; 13:19432565-19432565	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.743-2A>G; p.?; 13:19438155-19438155	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.98T>G; p.L33R; 13:19492871-19492871	pancreas	other; adenoma	Substitution - Missense
c.98T>G; p.L33R; 13:19492871-19492871	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.98T>G; p.L33R; 13:19492871-19492871	pancreas	carcinoma	Substitution - Missense
c.214C>T; p.R72C; 13:19473981-19473981	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.98T>G; p.L33R; 13:19492871-19492871	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.98T>G; p.L33R; 13:19492871-19492871	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.98T>G; p.L33R; 13:19492871-19492871	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.98T>G; p.L33R; 13:19492871-19492871	pancreas	carcinoma	Substitution - Missense
c.578G>T; p.R193I; 13:19450338-19450338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.98T>G; p.L33R; 13:19492871-19492871	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.919C>T; p.H307Y; 13:19432545-19432545	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.353G>C; p.R118T; 13:19465493-19465493	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.774T>C; p.L258L; 13:19438122-19438122	prostate	carcinoma	Substitution - coding silent
c.152T>C; p.V51A; 13:19474043-19474043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.878C>A; p.P293H; 13:19436233-19436233	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.25G>A; p.E9K; 13:19493488-19493488	skin	malignant_melanoma	Substitution - Missense
c.25G>A; p.E9K; 13:19493488-19493488	skin	malignant_melanoma	Substitution - Missense
c.25G>A; p.E9K; 13:19493488-19493488	skin	malignant_melanoma	Substitution - Missense
c.542G>A; p.R181Q; 13:19451194-19451194	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.42C>T; p.T14T; 13:19493471-19493471	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.542G>A; p.R181Q; 13:19451194-19451194	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.715G>A; p.V239I; 13:19450103-19450103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.542G>A; p.R181Q; 13:19451194-19451194	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.542G>A; p.R181Q; 13:19451194-19451194	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.542G>A; p.R181Q; 13:19451194-19451194	skin	malignant_melanoma	Substitution - Missense
c.542G>A; p.R181Q; 13:19451194-19451194	skin	malignant_melanoma	Substitution - Missense
c.488C>T; p.S163F; 13:19464478-19464478	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.617G>T; p.R206I; 13:19450299-19450299	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1332G>T; p.E444D; 13:19423068-19423068	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.554G>T; p.R185L; 13:19451182-19451182	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.578G>A; p.R193K; 13:19450338-19450338	skin	malignant_melanoma	Substitution - Missense
c.121A>C; p.I41L; 13:19474074-19474074	breast	carcinoma	Substitution - Missense
c.121A>C; p.I41L; 13:19474074-19474074	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.564T>A; p.N188K; 13:19451172-19451172	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1072-1G>T; p.?; 13:19426518-19426518	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.488C>G; p.S163C; 13:19464478-19464478	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1058T>A; p.L353*; 13:19430481-19430481	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.169G>A; p.D57N; 13:19474026-19474026	skin	malignant_melanoma	Substitution - Missense
c.169G>A; p.D57N; 13:19474026-19474026	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1119C>T; p.D373D; 13:19426470-19426470	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.640G>T; p.V214F; 13:19450276-19450276	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.135C>T; p.F45F; 13:19474060-19474060	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.231T>C; p.A77A; 13:19473964-19473964	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.231T>C; p.A77A; 13:19473964-19473964	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.846_847CC>TT; p.H283Y; 13:19436264-19436265	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.240A>T; p.L80F; 13:19473955-19473955	liver	carcinoma	Substitution - Missense
c.1247C>A; p.P416Q; 13:19423153-19423153	pancreas	carcinoma	Substitution - Missense
c.240A>T; p.L80F; 13:19473955-19473955	liver	carcinoma	Substitution - Missense
c.1215G>C; p.T405T; 13:19424967-19424967	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.412G>A; p.D138N; 13:19465288-19465288	skin	malignant_melanoma	Substitution - Missense
c.606T>C; p.N202N; 13:19450310-19450310	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.871G>A; p.E291K; 13:19436240-19436240	skin	malignant_melanoma	Substitution - Missense
c.672C>G; p.T224T; 13:19450146-19450146	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.67C>T; p.P23S; 13:19492902-19492902	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.67C>T; p.P23S; 13:19492902-19492902	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.215G>A; p.R72H; 13:19473980-19473980	breast	carcinoma	Substitution - Missense
c.120-1G>T; p.?; 13:19474076-19474076	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1028A>C; p.E343A; 13:19430511-19430511	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.502C>T; p.P168S; 13:19464464-19464464	skin	malignant_melanoma	Substitution - Missense
c.521G>A; p.R174Q; 13:19451215-19451215	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.451A>G; p.I151V; 13:19464515-19464515	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1244T>A; p.L415Q; 13:19423156-19423156	skin	malignant_melanoma	Substitution - Missense
c.104C>A; p.S35*; 13:19492865-19492865	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.138G>C; p.L46L; 13:19474057-19474057	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.439G>A; p.V147I; 13:19465261-19465261	central_nervous_system; brain	glioma	Substitution - Missense
c.401G>A; p.R134Q; 13:19465299-19465299	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.401G>A; p.R134Q; 13:19465299-19465299	NS	malignant_melanoma	Substitution - Missense
c.1330G>A; p.E444K; 13:19423070-19423070	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1330G>A; p.E444K; 13:19423070-19423070	skin	malignant_melanoma	Substitution - Missense
c.1164+1G>A; p.?; 13:19426424-19426424	skin; trunk	malignant_melanoma	Unknown
c.157C>T; p.L53F; 13:19474038-19474038	skin	malignant_melanoma	Substitution - Missense
c.1152G>A; p.Q384Q; 13:19426437-19426437	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.503C>A; p.P168Q; 13:19464463-19464463	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1211A>G; p.N404S; 13:19424971-19424971	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1250G>A; p.R417K; 13:19423150-19423150	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.160C>G; p.L54V; 13:19474035-19474035	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1035G>T; p.K345N; 13:19430504-19430504	thyroid	carcinoma	Substitution - Missense
c.265C>G; p.R89G; 13:19473930-19473930	urinary_tract; bladder	carcinoma	Substitution - Missense
c.160C>T; p.L54F; 13:19474035-19474035	skin	malignant_melanoma	Substitution - Missense
c.1293T>G; p.I431M; 13:19423107-19423107	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.423C>T; p.D141D; 13:19465277-19465277	skin	malignant_melanoma	Substitution - coding silent
c.423C>T; p.D141D; 13:19465277-19465277	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.950G>A; p.R317Q; 13:19432514-19432514	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.950G>A; p.R317Q; 13:19432514-19432514	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.115A>G; p.K39E; 13:19492854-19492854	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.115A>G; p.K39E; 13:19492854-19492854	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1026G>A; p.M342I; 13:19430513-19430513	skin	malignant_melanoma	Substitution - Missense
c.115A>G; p.K39E; 13:19492854-19492854	NS	malignant_melanoma	Substitution - Missense
c.1026G>A; p.M342I; 13:19430513-19430513	skin	malignant_melanoma	Substitution - Missense
c.1255G>A; p.E419K; 13:19423145-19423145	skin	malignant_melanoma	Substitution - Missense
c.1255G>A; p.E419K; 13:19423145-19423145	skin	malignant_melanoma	Substitution - Missense
c.746G>A; p.R249K; 13:19438150-19438150	skin	malignant_melanoma	Substitution - Missense
c.533A>G; p.K178R; 13:19451203-19451203	central_nervous_system; brain	glioma	Substitution - Missense
c.553C>T; p.R185*; 13:19451183-19451183	skin	malignant_melanoma	Substitution - Nonsense
c.76A>G; p.S26G; 13:19492893-19492893	skin; extremity	malignant_melanoma	Substitution - Missense
c.76A>G; p.S26G; 13:19492893-19492893	skin; extremity	malignant_melanoma	Substitution - Missense
c.880_882delTCT; p.S294delS; 13:19436229-19436231	stomach	carcinoma; adenocarcinoma	Deletion - In frame
c.76A>G; p.S26G; 13:19492893-19492893	skin; extremity	malignant_melanoma	Substitution - Missense
c.76A>G; p.S26G; 13:19492893-19492893	skin; trunk	malignant_melanoma	Substitution - Missense
c.542G>T; p.R181L; 13:19451194-19451194	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.608G>T; p.R203M; 13:19450308-19450308	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.707A>T; p.E236V; 13:19450111-19450111	skin	malignant_melanoma	Substitution - Missense
c.1303G>T; p.E435*; 13:19423097-19423097	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.799G>T; p.A267S; 13:19438097-19438097	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.479G>A; p.G160E; 13:19464487-19464487	skin	malignant_melanoma	Substitution - Missense
c.512A>T; p.E171V; 13:19451224-19451224	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.415G>A; p.G139R; 13:19465285-19465285	skin	malignant_melanoma	Substitution - Missense
c.886-1G>T; p.?; 13:19432579-19432579	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1250G>T; p.R417I; 13:19423150-19423150	breast	carcinoma	Substitution - Missense
c.298C>T; p.R100*; 13:19465548-19465548	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.298C>T; p.R100*; 13:19465548-19465548	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.298C>T; p.R100*; 13:19465548-19465548	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.742G>A; p.G248R; 13:19450076-19450076	skin	malignant_melanoma	Substitution - Missense
c.298C>T; p.R100*; 13:19465548-19465548	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.298C>T; p.R100*; 13:19465548-19465548	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1300C>T; p.P434S; 13:19423100-19423100	skin	malignant_melanoma	Substitution - Missense
c.1081G>T; p.D361Y; 13:19426508-19426508	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.772C>T; p.L258F; 13:19438124-19438124	skin	malignant_melanoma	Substitution - Missense
c.141C>T; p.V47V; 13:19474054-19474054	skin	malignant_melanoma	Substitution - coding silent
c.939C>T; p.L313L; 13:19432525-19432525	skin	malignant_melanoma	Substitution - coding silent
c.801C>T; p.A267A; 13:19438095-19438095	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.965A>T; p.K322I; 13:19432499-19432499	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.888T>G; p.N296K; 13:19432576-19432576	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.965A>T; p.K322I; 13:19432499-19432499	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.965A>T; p.K322I; 13:19432499-19432499	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.924C>G; p.L308L; 13:19432540-19432540	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.924C>G; p.L308L; 13:19432540-19432540	thyroid	other; neoplasm	Substitution - coding silent
c.924C>G; p.L308L; 13:19432540-19432540	thyroid	other; neoplasm	Substitution - coding silent
c.1160C>T; p.S387F; 13:19426429-19426429	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.924C>G; p.L308L; 13:19432540-19432540	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.720G>A; p.A240A; 13:19450098-19450098	skin	malignant_melanoma	Substitution - coding silent
c.720G>A; p.A240A; 13:19450098-19450098	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.411G>T; p.R137S; 13:19465289-19465289	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.552T>C; p.Y184Y; 13:19451184-19451184	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.11G>T; p.S4I; 13:19503224-19503224	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1193C>A; p.P398Q; 13:19424989-19424989	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.386C>T; p.S129L; 13:19465314-19465314	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1330G>C; p.E444Q; 13:19423070-19423070	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.983C>T; p.S328L; 13:19432481-19432481	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.983C>T; p.S328L; 13:19432481-19432481	skin	malignant_melanoma	Substitution - Missense
c.937C>G; p.L313V; 13:19432527-19432527	urinary_tract; bladder	carcinoma	Substitution - Missense
c.236G>C; p.G79A; 13:19473959-19473959	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.236G>C; p.G79A; 13:19473959-19473959	urinary_tract; bladder	carcinoma	Substitution - Missense
c.600C>T; p.F200F; 13:19450316-19450316	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.211T>A; p.Y71N; 13:19473984-19473984	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.774T>G; p.L258L; 13:19438122-19438122	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1024A>T; p.M342L; 13:19430515-19430515	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.548A>C; p.H183P; 13:19451188-19451188	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.783C>T; p.S261S; 13:19438113-19438113	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.548A>C; p.H183P; 13:19451188-19451188	pancreas	carcinoma	Substitution - Missense
c.949C>T; p.R317W; 13:19432515-19432515	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.714C>T; p.I238I; 13:19450104-19450104	skin	malignant_melanoma	Substitution - coding silent
c.1238T>C; p.L413P; 13:19423162-19423162	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.281G>A; p.G94E; 13:19473914-19473914	skin	malignant_melanoma	Substitution - Missense
c.886-1G>C; p.?; 13:19432579-19432579	prostate	carcinoma; adenocarcinoma	Unknown
c.886-1G>C; p.?; 13:19432579-19432579	breast	carcinoma	Unknown
c.886-1G>C; p.?; 13:19432579-19432579	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1158C>T; p.F386F; 13:19426431-19426431	skin	malignant_melanoma	Substitution - coding silent
c.299G>A; p.R100Q; 13:19465547-19465547	breast	carcinoma	Substitution - Missense
c.1163C>T; p.S388L; 13:19426426-19426426	skin	malignant_melanoma	Substitution - Missense
c.65+1G>T; p.?; 13:19493447-19493447	lung	carcinoma; small_cell_carcinoma	Unknown
c.180C>T; p.F60F; 13:19474015-19474015	skin	malignant_melanoma	Substitution - coding silent
c.299G>A; p.R100Q; 13:19465547-19465547	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.668T>C; p.F223S; 13:19450150-19450150	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.830G>A; p.R277K; 13:19436281-19436281	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1131G>C; p.L377L; 13:19426458-19426458	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.265C>T; p.R89*; 13:19473930-19473930	skin	malignant_melanoma	Substitution - Nonsense
c.265C>T; p.R89*; 13:19473930-19473930	skin	malignant_melanoma	Substitution - Nonsense
c.265C>T; p.R89*; 13:19473930-19473930	skin	malignant_melanoma	Substitution - Nonsense
c.784G>A; p.E262K; 13:19438112-19438112	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.784G>A; p.E262K; 13:19438112-19438112	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.784G>A; p.E262K; 13:19438112-19438112	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.784G>A; p.E262K; 13:19438112-19438112	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.784G>A; p.E262K; 13:19438112-19438112	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.784G>A; p.E262K; 13:19438112-19438112	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.784G>A; p.E262K; 13:19438112-19438112	skin	malignant_melanoma	Substitution - Missense
c.784G>A; p.E262K; 13:19438112-19438112	skin	malignant_melanoma	Substitution - Missense
c.784G>A; p.E262K; 13:19438112-19438112	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.784G>A; p.E262K; 13:19438112-19438112	skin; arm	malignant_melanoma	Substitution - Missense
c.503C>T; p.P168L; 13:19464463-19464463	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.984G>A; p.S328S; 13:19432480-19432480	breast	carcinoma	Substitution - coding silent
c.984G>A; p.S328S; 13:19432480-19432480	breast	carcinoma	Substitution - coding silent
c.554G>A; p.R185Q; 13:19451182-19451182	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.728G>A; p.C243Y; 13:19450090-19450090	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.984G>A; p.S328S; 13:19432480-19432480	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.984G>A; p.S328S; 13:19432480-19432480	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.308G>A; p.R103Q; 13:19465538-19465538	breast	carcinoma	Substitution - Missense
c.308G>A; p.R103Q; 13:19465538-19465538	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.410G>A; p.R137K; 13:19465290-19465290	skin	malignant_melanoma	Substitution - Missense
c.1160C>A; p.S387Y; 13:19426429-19426429	thyroid	carcinoma	Substitution - Missense
c.326G>T; p.R109I; 13:19465520-19465520	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.326G>T; p.R109I; 13:19465520-19465520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.579A>C; p.R193S; 13:19450337-19450337	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.307C>T; p.R103*; 13:19465539-19465539	pancreas	carcinoma	Substitution - Nonsense
c.1165-1G>T; p.?; 13:19425018-19425018	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1235G>A; p.R412K; 13:19424947-19424947	skin	malignant_melanoma	Substitution - Missense
c.307C>T; p.R103*; 13:19465539-19465539	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.307C>T; p.R103*; 13:19465539-19465539	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.307C>T; p.R103*; 13:19465539-19465539	prostate	carcinoma	Substitution - Nonsense
c.586G>T; p.D196Y; 13:19450330-19450330	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1115A>T; p.Y372F; 13:19426474-19426474	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.43G>A; p.E15K; 13:19493470-19493470	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.193C>T; p.L65F; 13:19474002-19474002	skin	malignant_melanoma	Substitution - Missense
c.88G>A; p.G30R; 13:19492881-19492881	skin	malignant_melanoma	Substitution - Missense
c.750C>T; p.T250T; 13:19438146-19438146	pancreas	carcinoma	Substitution - coding silent
c.57G>A; p.A19A; 13:19493456-19493456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.57G>A; p.A19A; 13:19493456-19493456	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.57G>A; p.A19A; 13:19493456-19493456	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.643C>A; p.P215T; 13:19450273-19450273	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.57G>A; p.A19A; 13:19493456-19493456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1194A>C; p.P398P; 13:19424988-19424988	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.733G>A; p.G245R; 13:19450085-19450085	skin	malignant_melanoma	Substitution - Missense
c.586G>A; p.D196N; 13:19450330-19450330	skin	malignant_melanoma	Substitution - Missense
c.449G>T; p.R150L; 13:19464517-19464517	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1093_1096delGACA; p.D365fs*3; 13:19426493-19426496	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.661G>A; p.V221M; 13:19450157-19450157	skin	malignant_melanoma	Substitution - Missense
c.1061G>A; p.G354E; 13:19430478-19430478	skin	malignant_melanoma	Substitution - Missense
c.1093G>A; p.D365N; 13:19426496-19426496	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.114T>A; p.S38R; 13:19492855-19492855	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.334C>T; p.H112Y; 13:19465512-19465512	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.326G>A; p.R109K; 13:19465520-19465520	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.334C>T; p.H112Y; 13:19465512-19465512	skin	malignant_melanoma	Substitution - Missense
c.114T>A; p.S38R; 13:19492855-19492855	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.334C>T; p.H112Y; 13:19465512-19465512	skin	malignant_melanoma	Substitution - Missense
c.294A>T; p.L98F; 13:19465552-19465552	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1179C>G; p.Y393*; 13:19425003-19425003	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1120G>A; p.G374S; 13:19426469-19426469	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.740A>C; p.K247T; 13:19450078-19450078	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1290A>C; p.K430N; 13:19423110-19423110	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.988C>T; p.R330C; 13:19432476-19432476	skin	malignant_melanoma	Substitution - Missense
c.942T>C; p.P314P; 13:19432522-19432522	skin	malignant_melanoma	Substitution - coding silent
c.24C>T; p.N8N; 13:19493489-19493489	oesophagus	carcinoma	Substitution - coding silent
c.824G>A; p.G275E; 13:19436287-19436287	skin	malignant_melanoma	Substitution - Missense
c.24C>T; p.N8N; 13:19493489-19493489	pancreas	carcinoma	Substitution - coding silent

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]