Entrez Gene

Basic Information
Gene ID	4221
Name	MEN1
Synonymous	multiple endocrine neoplasia I;MEN1;multiple endocrine neoplasia I
Definition	menin
Position	11q13
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 0.50.

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.654+3A>G; p.?; 11:64807888-64807888	parathyroid	adenoma	Unknown
c.654+3A>G; p.?; 11:64807888-64807888	lung	carcinoid-endocrine_tumour; typical	Unknown
c.256A>T; p.I86F; 11:64809854-64809854	small_intestine; duodenum	carcinoid-endocrine_tumour; gastrinoma	Substitution - Missense
c.419delT; p.I140fs*45; 11:64809691-64809691	gastrointestinal_tract_(site_indeterminate)	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.1220_1221delCT; p.P407fs*41; 11:64805163-64805164	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.291_292delCC; p.I97fs*19; 11:64809818-64809819	parathyroid	adenoma	Deletion - Frameshift
c.491C>T; p.A164V; 11:64808054-64808054	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.354_356delGAA; p.K119del; 11:64809754-64809756	parathyroid	adenoma	Deletion - In frame
c.491C>T; p.A164V; 11:64808054-64808054	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.505G>T; p.G169C; 11:64808040-64808040	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.1_109del109; p.M1fs*82; 11:64810001-64810109	pancreas	carcinoid-endocrine_tumour	Deletion - Frameshift
c.291_292delCC; p.I97fs*19; 11:64809818-64809819	parathyroid	adenoma	Deletion - Frameshift
c.354_356delGAA; p.K119del; 11:64809754-64809756	gastrointestinal_tract_(site_indeterminate)	carcinoid-endocrine_tumour	Deletion - In frame
c.1033delG; p.A345fs*23; 11:64806248-64806248	pancreas	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.1033delG; p.A345fs*23; 11:64806248-64806248	small_intestine; duodenum	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.1704delC; p.K569fs*19; 11:64804463-64804463	parathyroid	adenoma-hyperplasia_NS	Deletion - Frameshift
c.1033delG; p.A345fs*23; 11:64806248-64806248	gastrointestinal_tract_(site_indeterminate)	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.1228T>C; p.F410L; 11:64805156-64805156	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.161_162insG; p.I54fs*63; 11:64809948-64809949	parathyroid	adenoma	Insertion - Frameshift
c.1606C>T; p.Q536*; 11:64804561-64804561	parathyroid	adenoma	Substitution - Nonsense
c.1606C>T; p.Q536*; 11:64804561-64804561	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.324A>T; p.R108R; 11:64809786-64809786	breast	carcinoma	Substitution - coding silent
c.1779C>A; p.S593S; 11:64804388-64804388	breast	carcinoma	Substitution - coding silent
c.593G>A; p.W198*; 11:64807952-64807952	parathyroid	adenoma	Substitution - Nonsense
c.1341_1341delT; p.F447fs*11; 11:64805043-64805043	parathyroid	adenoma	Deletion - Frameshift
c.1256delG; p.G419fs*26; 11:64805128-64805128	parathyroid	carcinoma	Deletion - Frameshift
c.247_250delCTGT; p.I85fs*33; 11:64809860-64809863	small_intestine; duodenum	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.247_250delCTGT; p.I85fs*33; 11:64809860-64809863	stomach	carcinoid-endocrine_tumour	Deletion - Frameshift
c.328G>T; p.G110W; 11:64809782-64809782	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1539_1540insC; p.R516fs*15; 11:64804627-64804628	lung	carcinoid-endocrine_tumour; typical	Insertion - Frameshift
c.1539_1540insC; p.R516fs*15; 11:64804627-64804628	parathyroid	adenoma	Insertion - Frameshift
c.230delA; p.Y77fs*42; 11:64809880-64809880	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - Frameshift
c.1313_1331del19; p.T438fs*14; 11:64805053-64805071	parathyroid	adenoma	Deletion - Frameshift
c.282_282delC; p.A95fs*24; 11:64809828-64809828	pancreas	carcinoid-endocrine_tumour	Deletion - Frameshift
c.1739C>T; p.T580M; 11:64804428-64804428	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1355G>A; p.R452Q; 11:64804812-64804812	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.654+2T>A; p.?; 11:64807889-64807889	pancreas	carcinoid-endocrine_tumour; gastrinoma	Unknown
c.981C>G; p.Y327*; 11:64806300-64806300	parathyroid	adenoma	Substitution - Nonsense
c.467_468insT; p.V157fs*23; 11:64808077-64808078	parathyroid	adenoma	Insertion - Frameshift
c.669G>A; p.L223L; 11:64807666-64807666	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.561_561delG; p.N189fs*35; 11:64807984-64807984	pancreas	carcinoid-endocrine_tumour	Deletion - Frameshift
c.203_203delC; p.D70fs*49; 11:64809907-64809907	pancreas	carcinoid-endocrine_tumour	Deletion - Frameshift
c.168_171delCAAC; p.N57fs*61; 11:64809939-64809942	parathyroid	carcinoma	Deletion - Frameshift
c.808C>A; p.L270M; 11:64807195-64807195	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1510C>A; p.L504M; 11:64804657-64804657	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1072G>A; p.E358K; 11:64805748-64805748	skin	malignant_melanoma	Substitution - Missense
c.784-1G>C; p.?; 11:64807220-64807220	parathyroid	adenoma	Unknown
c.196_201AGCCCC>T; p.S66fs*49; 11:64809909-64809914	gastrointestinal_tract_(site_indeterminate)	carcinoid-endocrine_tumour; gastrinoma	Complex - frameshift
c.253A>G; p.I85V; 11:64809857-64809857	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1654A>G; p.T552A; 11:64804513-64804513	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.817_818delCT; p.L273fs*43; 11:64807185-64807186	pancreas	carcinoid-endocrine_tumour; islet_cell	Deletion - Frameshift
c.1654A>G; p.T552A; 11:64804513-64804513	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.759_771del13; p.L254fs*23; 11:64807564-64807576	parathyroid	adenoma	Deletion - Frameshift
c.131_132insT; p.E45fs*72; 11:64809978-64809979	lung	carcinoid-endocrine_tumour; typical	Insertion - Frameshift
c.1360delA; p.K454fs*4; 11:64804807-64804807	parathyroid	adenoma	Deletion - Frameshift
c.98_105delACCTGGTG; p.D33fs*81; 11:64810005-64810012	lung	carcinoid-endocrine_tumour; atypical	Deletion - Frameshift
c.533_534insC; p.E179fs*1; 11:64808011-64808012	gastrointestinal_tract_(site_indeterminate)	carcinoid-endocrine_tumour; gastrinoma	Insertion - Frameshift
c.1159delG; p.E387fs*58; 11:64805661-64805661	pancreas	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.959C>T; p.P320L; 11:64806322-64806322	parathyroid	adenoma	Substitution - Missense
c.1795_1796delAC; p.T599fs*>12; 11:64804371-64804372	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Deletion - Frameshift
c.1683G>A; p.M561I; 11:64804484-64804484	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1681A>G; p.M561V; 11:64804486-64804486	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1546_1547insC; p.R516fs*15; 11:64804620-64804621	parathyroid	adenoma	Insertion - Frameshift
c.1546_1547insC; p.R516fs*15; 11:64804620-64804621	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1546_1547insC; p.R516fs*15; 11:64804620-64804621	parathyroid	adenoma	Insertion - Frameshift
c.1546_1547insC; p.R516fs*15; 11:64804620-64804621	breast	carcinoma	Insertion - Frameshift
c.1073A>G; p.E358G; 11:64805747-64805747	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1546_1547insC; p.R516fs*15; 11:64804620-64804621	parathyroid	adenoma	Insertion - Frameshift
c.89_91delAGG; p.E31del; 11:64810019-64810021	parathyroid	adenoma	Deletion - In frame
c.548G>A; p.W183*; 11:64807997-64807997	skin	malignant_melanoma	Substitution - Nonsense
c.548G>A; p.W183*; 11:64807997-64807997	pancreas	carcinoid-endocrine_tumour	Substitution - Nonsense
c.763G>A; p.E255K; 11:64807572-64807572	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.678A>G; p.S226S; 11:64807657-64807657	liver	carcinoma	Substitution - coding silent
c.1163A>G; p.E388G; 11:64805657-64805657	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.678A>G; p.S226S; 11:64807657-64807657	liver	carcinoma	Substitution - coding silent
c.262G>A; p.A88T; 11:64809848-64809848	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1163A>G; p.E388G; 11:64805657-64805657	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.995G>A; p.R332H; 11:64806286-64806286	central_nervous_system; brain	glioma	Substitution - Missense
c.401_401delT; p.F134fs*51; 11:64809709-64809709	parathyroid	adenoma	Deletion - Frameshift
c.1324C>T; p.Q442*; 11:64805060-64805060	pancreas	carcinoid-endocrine_tumour	Substitution - Nonsense
c.446_446delG; p.G149fs*36; 11:64808099-64808099	parathyroid	adenoma	Deletion - Frameshift
c.1324C>T; p.Q442*; 11:64805060-64805060	parathyroid	adenoma	Substitution - Nonsense
c.1324C>T; p.Q442*; 11:64805060-64805060	parathyroid	adenoma	Substitution - Nonsense
c.79_95del17; p.L27fs*84; 11:64810015-64810031	pancreas	carcinoid-endocrine_tumour	Deletion - Frameshift
c.1025C>T; p.A342V; 11:64806256-64806256	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1025C>T; p.A342V; 11:64806256-64806256	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.850G>C; p.A284P; 11:64807073-64807073	parathyroid	adenoma-hyperplasia_NS	Substitution - Missense
c.511C>T; p.R171W; 11:64808034-64808034	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.654G>T; p.R218R; 11:64807891-64807891	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - coding silent
c.1091_1095delTCTTT; p.F364fs*1; 11:64805725-64805729	parathyroid	adenoma	Deletion - Frameshift
c.960_960delC; p.Y321fs*47; 11:64806321-64806321	pancreas	carcinoid-endocrine_tumour	Deletion - Frameshift
c.248_251delTGTC; p.I85fs*33; 11:64809859-64809862	pancreas	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.362T>A; p.V121D; 11:64809748-64809748	parathyroid	carcinoma	Substitution - Missense
c.376T>G; p.W126G; 11:64809734-64809734	pancreas	carcinoid-endocrine_tumour; gastrinoma	Substitution - Missense
c.527_539del13; p.A176fs*5; 11:64808006-64808018	parathyroid	adenoma	Deletion - Frameshift
c.484G>T; p.V162F; 11:64808061-64808061	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.833_858del26; p.M278fs*30; 11:64807065-64807090	parathyroid	adenoma	Deletion - Frameshift
c.237_237delC; p.V80fs*39; 11:64809873-64809873	pituitary	adenoma; GH-PRL	Deletion - Frameshift
c.1357C>T; p.Q453*; 11:64804810-64804810	parathyroid	adenoma	Substitution - Nonsense
c.472G>A; p.A158T; 11:64808073-64808073	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1318_1319delCT; p.L440fs*8; 11:64805065-64805066	thymus	carcinoid-endocrine_tumour; ACTH	Deletion - Frameshift
c.1809C>G; p.L603L; 11:64804358-64804358	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1413G>A; p.W471*; 11:64804754-64804754	central_nervous_system; fourth_ventricle	glioma; ependymoma_Grade_III-IV	Substitution - Nonsense
c.1413G>A; p.W471*; 11:64804754-64804754	central_nervous_system; spinal_cord	glioma; ependymoma_Grade_III-IV	Substitution - Nonsense
c.111_112insT; p.S38fs*79; 11:64809998-64809999	parathyroid	adenoma	Insertion - Frameshift
c.1413G>A; p.W471*; 11:64804754-64804754	central_nervous_system; fourth_ventricle	glioma; ependymoma_Grade_III-IV	Substitution - Nonsense
c.405delG; p.D136fs*49; 11:64809705-64809705	parathyroid	adenoma	Deletion - Frameshift
c.1267T>C; p.W423R; 11:64805117-64805117	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.303_316del14; p.D102fs*10; 11:64809794-64809807	parathyroid	adenoma	Deletion - Frameshift
c.90_140del51; p.E30_F47>D; 11:64809970-64810020	parathyroid	adenoma	Complex - deletion inframe
c.753C>T; p.T251T; 11:64807582-64807582	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.989G>A; p.R330H; 11:64806292-64806292	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; non_functioning	Substitution - Missense
c.989G>A; p.R330H; 11:64806292-64806292	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1252G>A; p.D418N; 11:64805132-64805132	parathyroid	adenoma	Substitution - Missense
c.194_219del26; p.P65fs*43; 11:64809891-64809916	parathyroid	adenoma	Deletion - Frameshift
c.640G>A; p.G214S; 11:64807905-64807905	skin	malignant_melanoma	Substitution - Missense
c.1298_1311>GCA; p.H433fs*12; 11:64805073-64805086	parathyroid	adenoma	Complex - frameshift
c.39delG; p.R14fs*105; 11:64810071-64810071	parathyroid	adenoma	Deletion - Frameshift
c.248_272del25; p.L83fs*28; 11:64809838-64809862	NS	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.372_393del22; p.I125fs*53; 11:64809717-64809738	parathyroid	adenoma	Deletion - Frameshift
c.988C>T; p.R330C; 11:64806293-64806293	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1256G>A; p.G419D; 11:64805128-64805128	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.959C>G; p.P320R; 11:64806322-64806322	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.784-2A>G; p.?; 11:64807221-64807221	pancreas	carcinoid-endocrine_tumour	Unknown
c.422A>G; p.Q141R; 11:64809688-64809688	pancreas	carcinoid-endocrine_tumour; gastrinoma	Substitution - Missense
c.199_202delCCCG; p.A68fs*50; 11:64809908-64809911	parathyroid	adenoma	Deletion - Frameshift
c.465C>T; p.S155S; 11:64808080-64808080	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.794delG; p.W265fs*16; 11:64807209-64807209	gastrointestinal_tract_(site_indeterminate)	carcinoid-endocrine_tumour	Deletion - Frameshift
c.674G>T; p.G225V; 11:64807661-64807661	pancreas	carcinoid-endocrine_tumour; islet_cell	Substitution - Missense
c.135G>T; p.E45D; 11:64809975-64809975	parathyroid	adenoma-hyperplasia_NS	Substitution - Missense
c.1395C>T; p.A465A; 11:64804772-64804772	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.159_165delCATCCCT; p.I54fs*63; 11:64809945-64809951	pancreas	carcinoid-endocrine_tumour	Deletion - Frameshift
c.1162G>T; p.E388*; 11:64805658-64805658	parathyroid	adenoma	Substitution - Nonsense
c.1038_1038delT; p.V347fs*21; 11:64806243-64806243	pancreas	carcinoid-endocrine_tumour	Deletion - Frameshift
c.628_631delACAG; p.T210fs*13; 11:64807914-64807917	parathyroid	adenoma	Deletion - Frameshift
c.357G>A; p.K119K; 11:64809753-64809753	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1240_1275del36; p.L414_E425del; 11:64805109-64805144	parathyroid	hyperplasia	Deletion - In frame
c.884G>A; p.R295Q; 11:64807039-64807039	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.402delC; p.F134fs*51; 11:64809708-64809708	gastrointestinal_tract_(site_indeterminate)	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.1739C>G; p.T580R; 11:64804428-64804428	parathyroid	adenoma-hyperplasia_NS	Substitution - Missense
c.398_430del33; p.Y133_L143del; 11:64809680-64809712	parathyroid	adenoma	Deletion - In frame
c.398_430del33; p.Y133_L143del; 11:64809680-64809712	parathyroid	adenoma-hyperplasia_NS	Deletion - In frame
c.113_123del11; p.S38fs*75; 11:64809987-64809997	parathyroid	adenoma	Deletion - Frameshift
c.288_308del21; p.I97_L103del; 11:64809802-64809822	parathyroid	adenoma	Deletion - In frame
c.958C>T; p.P320S; 11:64806323-64806323	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.598G>A; p.G200S; 11:64807947-64807947	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.625C>T; p.Q209*; 11:64807920-64807920	parathyroid	adenoma	Substitution - Nonsense
c.403A>T; p.K135*; 11:64809707-64809707	soft_tissue; fibrous_tissue_and_uncertain_o	angiofibroma	Substitution - Nonsense
c.652_653delCG; p.R218fs*13; 11:64807892-64807893	pancreas	carcinoid-endocrine_tumour	Deletion - Frameshift
c.610G>A; p.E204K; 11:64807935-64807935	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.547T>C; p.W183R; 11:64807998-64807998	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.547T>C; p.W183R; 11:64807998-64807998	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.547T>C; p.W183R; 11:64807998-64807998	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.495_495delC; p.Q166fs*19; 11:64808050-64808050	parathyroid	adenoma	Deletion - Frameshift
c.499_523del25; p.A167fs*10; 11:64808022-64808046	parathyroid	adenoma	Deletion - Frameshift
c.710C>T; p.A237V; 11:64807625-64807625	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.673delG; p.G225fs*56; 11:64807662-64807662	gastrointestinal_tract_(site_indeterminate)	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.654+1G>A; p.?; 11:64807890-64807890	lung	carcinoid-endocrine_tumour; atypical	Unknown
c.754_761delGACTCGCT; p.D252fs*15; 11:64807574-64807581	parathyroid	adenoma	Deletion - Frameshift
c.597_597C>GG; p.H199fs*19; 11:64807948-64807948	parathyroid	adenoma-hyperplasia_NS	Complex - frameshift
c.434_435insT; p.F146fs*34; 11:64809675-64809676	pancreas	carcinoid-endocrine_tumour; insulinoma	Insertion - Frameshift
c.1657delT; p.F553fs*6; 11:64804510-64804510	parathyroid	hyperplasia	Deletion - Frameshift
c.1657delT; p.F553fs*6; 11:64804510-64804510	parathyroid	adenoma-hyperplasia_NS	Deletion - Frameshift
c.241_242insG; p.A81fs*36; 11:64809868-64809869	parathyroid	adenoma	Insertion - Frameshift
c.1248C>G; p.F416L; 11:64805136-64805136	thyroid	carcinoma; medullary_carcinoma	Substitution - Missense
c.620delG; p.G208fs*16; 11:64807925-64807925	small_intestine; duodenum	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.620delG; p.G208fs*16; 11:64807925-64807925	gastrointestinal_tract_(site_indeterminate)	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.620delG; p.G208fs*16; 11:64807925-64807925	small_intestine; duodenum	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.620delG; p.G208fs*16; 11:64807925-64807925	small_intestine; duodenum	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.981_982insAGC; p.Y327_H328insS; 11:64806299-64806300	parathyroid	adenoma	Insertion - In frame
c.249_252delGTCT; p.I85fs*33; 11:64809858-64809861	lung	carcinoid-endocrine_tumour; atypical	Deletion - Frameshift
c.249_252delGTCT; p.I85fs*33; 11:64809858-64809861	lung	carcinoid-endocrine_tumour; atypical	Deletion - Frameshift
c.824+2T>G; p.?; 11:64807177-64807177	parathyroid	adenoma	Unknown
c.249_252delGTCT; p.I85fs*33; 11:64809858-64809861	lung	carcinoid-endocrine_tumour; atypical	Deletion - Frameshift
c.1249T>A; p.Y417N; 11:64805135-64805135	prostate	carcinoma	Substitution - Missense
c.249_252delGTCT; p.I85fs*33; 11:64809858-64809861	breast	carcinoma	Deletion - Frameshift
c.824+2T>G; p.?; 11:64807177-64807177	parathyroid	adenoma	Unknown
c.249_252delGTCT; p.I85fs*33; 11:64809858-64809861	parathyroid	adenoma	Deletion - Frameshift
c.249_252delGTCT; p.I85fs*33; 11:64809858-64809861	pancreas	carcinoid-endocrine_tumour	Deletion - Frameshift
c.249_252delGTCT; p.I85fs*33; 11:64809858-64809861	pancreas	carcinoid-endocrine_tumour; islet_cell	Deletion - Frameshift
c.249_252delGTCT; p.I85fs*33; 11:64809858-64809861	pancreas	carcinoid-endocrine_tumour; vipoma	Deletion - Frameshift
c.44_59del16; p.S15fs*99; 11:64810051-64810066	parathyroid	adenoma	Deletion - Frameshift
c.1351-1_1357delGGTGCGGC; p.?; 11:64804810-64804817	parathyroid	adenoma	Unknown
c.1505A>T; p.K502M; 11:64804662-64804662	pituitary	adenoma; non_functioning	Substitution - Missense
c.909C>T; p.H303H; 11:64807014-64807014	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.210_225del16; p.D70fs*44; 11:64809885-64809900	pancreas	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.824+2T>G; p.?; 11:64807009-64807009	breast	carcinoma	Unknown
c.272_275delCCCG; p.R92fs*26; 11:64809835-64809838	parathyroid	adenoma	Deletion - Frameshift
c.272_275delCCCG; p.R92fs*26; 11:64809835-64809838	parathyroid	adenoma	Deletion - Frameshift
c.272_275delCCCG; p.R92fs*26; 11:64809835-64809838	parathyroid	adenoma	Deletion - Frameshift
c.1198C>T; p.Q400*; 11:64805186-64805186	pancreas	carcinoid-endocrine_tumour	Substitution - Nonsense
c.483_484GG>TT; p.V162F; 11:64808061-64808062	parathyroid	adenoma-hyperplasia_NS	Substitution - Missense
c.272_275delCCCG; p.R92fs*26; 11:64809835-64809838	parathyroid	adenoma	Deletion - Frameshift
c.185_186insT; p.F63fs*54; 11:64809924-64809925	parathyroid	adenoma	Insertion - Frameshift
c.1050-2A>G; p.?; 11:64805772-64805772	pituitary	adenoma; TSH	Unknown
c.212_218delCGCCTGG; p.P72fs*45; 11:64809892-64809898	pancreas	carcinoid-endocrine_tumour	Deletion - Frameshift
c.322C>T; p.R108*; 11:64809788-64809788	pancreas	carcinoid-endocrine_tumour	Substitution - Nonsense
c.322C>T; p.R108*; 11:64809788-64809788	parathyroid	adenoma	Substitution - Nonsense
c.1623_1652del30; p.A542_L551del; 11:64804515-64804544	gastrointestinal_tract_(site_indeterminate)	carcinoid-endocrine_tumour; gastrinoma	Deletion - In frame
c.671_675delAAGGA; p.K224fs*6; 11:64807660-64807664	parathyroid	adenoma-hyperplasia_NS	Deletion - Frameshift
c.1222G>C; p.E408Q; 11:64805162-64805162	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1682T>C; p.M561T; 11:64804485-64804485	parathyroid	adenoma	Substitution - Missense
c.349C>G; p.L117V; 11:64809761-64809761	small_intestine	carcinoid-endocrine_tumour	Substitution - Missense
c.1702_1706delACCAA; p.T568fs*27; 11:64804461-64804465	parathyroid	adenoma	Deletion - Frameshift
c.588_589insA; p.T197fs*21; 11:64807956-64807957	parathyroid	adenoma-hyperplasia_NS	Insertion - Frameshift
c.134A>G; p.E45G; 11:64809976-64809976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1718_1723delGCGCCA; p.S573_A574delSA; 11:64804444-64804449	liver	carcinoma	Deletion - In frame
c.124G>A; p.G42S; 11:64809986-64809986	gastrointestinal_tract_(site_indeterminate)	carcinoid-endocrine_tumour	Substitution - Missense
c.972G>A; p.L324L; 11:64806309-64806309	liver	carcinoma	Substitution - coding silent
c.1604C>T; p.A535V; 11:64804563-64804563	pancreas	carcinoid-endocrine_tumour; insulinoma	Substitution - Missense
c.124G>A; p.G42S; 11:64809986-64809986	parathyroid	adenoma	Substitution - Missense
c.266T>G; p.L89R; 11:64809844-64809844	lung	carcinoid-endocrine_tumour; atypical	Substitution - Missense
c.266T>G; p.L89R; 11:64809844-64809844	parathyroid	hyperplasia	Substitution - Missense
c.512G>A; p.R171Q; 11:64808033-64808033	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma	Substitution - Missense
c.884G>T; p.R295L; 11:64807039-64807039	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.266T>G; p.L89R; 11:64809844-64809844	pancreas	carcinoid-endocrine_tumour; glucagonoma	Substitution - Missense
c.512G>A; p.R171Q; 11:64808033-64808033	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.476T>G; p.F159C; 11:64808069-64808069	NS	carcinoid-endocrine_tumour; gastrinoma	Substitution - Missense
c.631G>T; p.V211F; 11:64807914-64807914	parathyroid	carcinoma	Substitution - Missense
c.512G>A; p.R171Q; 11:64808033-64808033	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.461G>A; p.S154N; 11:64808084-64808084	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1716G>A; p.S572S; 11:64804451-64804451	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.559_568del10; p.P188fs*33; 11:64807977-64807986	parathyroid	adenoma	Deletion - Frameshift
c.491C>A; p.A164D; 11:64808054-64808054	parathyroid	adenoma	Substitution - Missense
c.811G>T; p.G271*; 11:64807192-64807192	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.585G>A; p.E195E; 11:64807960-64807960	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.207_207delC; p.D70fs*49; 11:64809903-64809903	parathyroid	adenoma	Deletion - Frameshift
c.207_207delC; p.D70fs*49; 11:64809903-64809903	parathyroid	adenoma	Deletion - Frameshift
c.329G>C; p.G110A; 11:64809781-64809781	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.496C>T; p.Q166*; 11:64808049-64808049	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.496C>T; p.Q166*; 11:64808049-64808049	breast	carcinoma; lobular_carcinoma	Substitution - Nonsense
c.1045C>T; p.Q349*; 11:64806236-64806236	skin	malignant_melanoma	Substitution - Nonsense
c.914G>A; p.G305D; 11:64806367-64806367	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1635_1635delG; p.P546fs*13; 11:64804532-64804532	parathyroid	adenoma	Deletion - Frameshift
c.252_253insT; p.I85fs*32; 11:64809857-64809858	parathyroid	hyperplasia	Insertion - Frameshift
c.378G>A; p.W126*; 11:64809732-64809732	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma	Substitution - Nonsense
c.1116delC; p.N374fs*3; 11:64805704-64805704	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.95C>G; p.P32R; 11:64810015-64810015	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.252_253insT; p.I85fs*32; 11:64809857-64809858	parathyroid	adenoma-hyperplasia_NS	Insertion - Frameshift
c.252_253insT; p.I85fs*32; 11:64809857-64809858	lung	carcinoid-endocrine_tumour	Insertion - Frameshift
c.95C>G; p.P32R; 11:64810015-64810015	parathyroid	adenoma	Substitution - Missense
c.1159G>A; p.E387K; 11:64805661-64805661	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.491_493delCCT; p.A164_C165>G; 11:64808052-64808054	parathyroid	adenoma	Complex - deletion inframe
c.532T>C; p.S178P; 11:64808013-64808013	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.152_152delA; p.N51fs*68; 11:64809958-64809958	parathyroid	adenoma	Deletion - Frameshift
c.532T>C; p.S178P; 11:64808013-64808013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1546delC; p.R516fs*43; 11:64804621-64804621	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1546delC; p.R516fs*43; 11:64804621-64804621	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1656T>C; p.T552T; 11:64804511-64804511	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1546delC; p.R516fs*43; 11:64804621-64804621	liver	carcinoma	Deletion - Frameshift
c.802_803delTA; p.Y268fs*1; 11:64807200-64807201	parathyroid	adenoma	Deletion - Frameshift
c.824+1G>A; p.?; 11:64807178-64807178	parathyroid	adenoma	Unknown
c.1546delC; p.R516fs*43; 11:64804621-64804621	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1546delC; p.R516fs*43; 11:64804621-64804621	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.115_163del49; p.V40fs*63; 11:64809947-64809995	parathyroid	adenoma	Deletion - Frameshift
c.151delA; p.N51fs*68; 11:64809959-64809959	parathyroid	adenoma	Deletion - Frameshift
c.534T>A; p.S178S; 11:64808011-64808011	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.342delC; p.R115fs*4; 11:64809768-64809768	parathyroid	adenoma-hyperplasia_NS	Deletion - Frameshift
c.323G>T; p.R108L; 11:64809787-64809787	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1628C>T; p.S543L; 11:64804539-64804539	NS	carcinoid-endocrine_tumour; gastrinoma	Substitution - Missense
c.445+2delTTGG; p.?; 11:64809660-64809663	parathyroid	hyperplasia	Unknown
c.63_176del114; p.L22_P59del; 11:64809934-64810047	parathyroid	adenoma	Deletion - In frame
c.498G>A; p.Q166Q; 11:64808047-64808047	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1034delC; p.T346fs*22; 11:64806247-64806247	parathyroid	adenoma-hyperplasia_NS	Deletion - Frameshift
c.599G>A; p.G200D; 11:64807946-64807946	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.783+1G>T; p.?; 11:64807178-64807178	parathyroid	adenoma	Unknown
c.550_550delG; p.V184fs*1; 11:64807995-64807995	parathyroid	adenoma	Deletion - Frameshift
c.806_824del19; p.?; 11:64807176-64807197	pituitary	adenoma; GH-PRL	Unknown
c.581_582insACAG; p.E195fs*2; 11:64807963-64807964	pancreas	carcinoid-endocrine_tumour	Insertion - Frameshift
c.800_822del23; p.L267fs*42; 11:64807181-64807203	pancreas	carcinoid-endocrine_tumour	Deletion - Frameshift
c.225_229delCACCT; p.T76fs*39; 11:64809881-64809885	breast	carcinoma	Deletion - Frameshift
c.473C>A; p.A158D; 11:64808072-64808072	lung	carcinoid-endocrine_tumour; atypical	Substitution - Missense
c.1177C>T; p.Q393*; 11:64805643-64805643	thymus	carcinoid-endocrine_tumour	Substitution - Nonsense
c.180G>C; p.E60D; 11:64809930-64809930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.936C>G; p.Y312*; 11:64806345-64806345	lung	carcinoid-endocrine_tumour; typical	Substitution - Nonsense
c.936C>G; p.Y312*; 11:64806345-64806345	parathyroid	adenoma	Substitution - Nonsense
c.51delC; p.D17fs*102; 11:64810059-64810059	soft_tissue; fat	lipoma	Deletion - Frameshift
c.1021T>G; p.W341G; 11:64806260-64806260	liver	carcinoma	Substitution - Missense
c.901_901delC; p.L301fs*67; 11:64807022-64807022	parathyroid	adenoma	Deletion - Frameshift
c.536A>T; p.E179V; 11:64808009-64808009	pancreas	carcinoid-endocrine_tumour; glucagonoma	Substitution - Missense
c.702G>A; p.M234I; 11:64807633-64807633	skin	malignant_melanoma	Substitution - Missense
c.804_824del21; p.Y268_R275>*; 11:64807179-64807199	parathyroid	adenoma	Complex - deletion inframe
c.221delG; p.G74fs*45; 11:64809889-64809889	parathyroid	hyperplasia	Deletion - Frameshift
c.646G>A; p.A216T; 11:64807899-64807899	lung	carcinoid-endocrine_tumour; atypical	Substitution - Missense
c.218_228>CCT; p.G73fs*41; 11:64809882-64809892	pancreas	carcinoid-endocrine_tumour; gastrinoma	Complex - frameshift
c.50_53delACGA; p.D17fs*101; 11:64810057-64810060	pancreas	carcinoid-endocrine_tumour; islet_cell	Deletion - Frameshift
c.152_153delAC; p.N51fs*65; 11:64809957-64809958	parathyroid	adenoma	Deletion - Frameshift
c.1241T>C; p.L414P; 11:64805143-64805143	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.881G>A; p.G294D; 11:64807042-64807042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.440_442delTCA; p.I147del; 11:64809668-64809670	pancreas	carcinoid-endocrine_tumour; gastrinoma	Deletion - In frame
c.83_118del36; p.G28_L39del; 11:64809992-64810027	parathyroid	adenoma	Deletion - In frame
c.200C>A; p.P67H; 11:64809910-64809910	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>T; p.E469*; 11:64804762-64804762	parathyroid	hyperplasia	Substitution - Nonsense
c.989G>C; p.R330P; 11:64806292-64806292	pancreas	carcinoid-endocrine_tumour; gastrinoma	Substitution - Missense
c.989G>C; p.R330P; 11:64806292-64806292	pancreas	carcinoid-endocrine_tumour; gastrinoma	Substitution - Missense
c.1287G>A; p.T429T; 11:64805097-64805097	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1287G>A; p.T429T; 11:64805097-64805097	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.512G>T; p.R171L; 11:64808033-64808033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.150_151insC; p.N51fs*66; 11:64809959-64809960	parathyroid	adenoma	Insertion - Frameshift
c.363_367delCTCCG; p.S122fs*56; 11:64809743-64809747	parathyroid	adenoma	Deletion - Frameshift
c.1264A>G; p.K422E; 11:64805120-64805120	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1813C>A; p.R605R; 11:64804354-64804354	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1050_1051delCT; p.?; 11:64805769-64805775	gastrointestinal_tract_(site_indeterminate)	carcinoid-endocrine_tumour	Unknown
c.1802C>G; p.S601C; 11:64804365-64804365	breast	carcinoma	Substitution - Missense
c.341_376>TC; p.S114fs*60; 11:64809734-64809769	parathyroid	hyperplasia	Complex - frameshift
c.242delC; p.D82fs*37; 11:64809868-64809868	parathyroid	adenoma-hyperplasia_NS	Deletion - Frameshift
c.437delT; p.F146fs*39; 11:64809673-64809673	parathyroid	adenoma	Deletion - Frameshift
c.703G>A; p.E235K; 11:64807632-64807632	parathyroid	adenoma	Substitution - Missense
c.654+3A>G; p.?; 11:64807888-64807888	parathyroid	adenoma	Unknown
c.764_765insA; p.L256fs*14; 11:64807570-64807571	NS	carcinoid-endocrine_tumour; gastrinoma	Insertion - Frameshift
c.397_398insT; p.Y133fs*47; 11:64809712-64809713	parathyroid	adenoma	Insertion - Frameshift
c.1243C>T; p.R415*; 11:64805141-64805141	lung	carcinoid-endocrine_tumour; typical	Substitution - Nonsense
c.435C>A; p.S145R; 11:64809675-64809675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.695G>A; p.R232H; 11:64807640-64807640	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.343_356del14; p.R115fs*60; 11:64809754-64809767	parathyroid	adenoma	Deletion - Frameshift
c.377_377delG; p.W126fs*1; 11:64809733-64809733	pancreas	carcinoid-endocrine_tumour	Deletion - Frameshift
c.660G>A; p.W220*; 11:64807675-64807675	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1546C>T; p.R516W; 11:64804621-64804621	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.182_183insG; p.T62fs*55; 11:64809927-64809928	parathyroid	adenoma	Insertion - Frameshift
c.1248_1267del20; p.F416fs*26; 11:64805117-64805136	parathyroid	adenoma	Deletion - Frameshift
c.205_206insC; p.D70fs*47; 11:64809904-64809905	parathyroid	adenoma	Insertion - Frameshift
c.1300G>A; p.V434M; 11:64805084-64805084	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1621A>G; p.T541A; 11:64804546-64804546	lung	carcinoid-endocrine_tumour; typical	Substitution - Missense
c.660_668del9; p.L221_L223del; 11:64807667-64807675	pancreas	carcinoid-endocrine_tumour; gastrinoma	Deletion - In frame
c.24_36del13; p.K8fs*107; 11:64810074-64810086	lung	carcinoid-endocrine_tumour; atypical	Deletion - Frameshift
c.268delT; p.Y90fs*29; 11:64809842-64809842	pituitary	adenoma; PRL	Deletion - Frameshift
c.1091_1099del9; p.F364_V367>L; 11:64805721-64805729	parathyroid	adenoma	Complex - deletion inframe
c.323G>C; p.R108P; 11:64809787-64809787	breast	carcinoma	Substitution - Missense
c.1132G>T; p.E378*; 11:64805688-64805688	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Nonsense
c.1336C>T; p.R446C; 11:64805048-64805048	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; non_functioning	Substitution - Missense
c.1154_1155insG; p.E387fs*22; 11:64805665-64805666	parathyroid	adenoma	Insertion - Frameshift
c.1431_1440del10; p.E477fs*79; 11:64804727-64804736	parathyroid	adenoma	Deletion - Frameshift
c.1270G>T; p.E424*; 11:64805114-64805114	skin	malignant_melanoma	Substitution - Nonsense
c.1231_1231delG; p.A411fs*34; 11:64805153-64805153	parathyroid	adenoma	Deletion - Frameshift
c.429C>T; p.L143L; 11:64809681-64809681	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.553G>T; p.V185L; 11:64807992-64807992	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.304_311delGACCTGTC; p.D102fs*12; 11:64809799-64809806	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Deletion - Frameshift
c.553G>T; p.V185L; 11:64807992-64807992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1230C>A; p.F410L; 11:64805154-64805154	pituitary	adenoma; ACTH	Substitution - Missense
c.1169_1170ins11; p.G391fs*58; 11:64805650-64805651	parathyroid	adenoma	Insertion - Frameshift
c.1716_1721delGAGCGC; p.S573_A574del; 11:64804446-64804451	parathyroid	adenoma	Deletion - In frame
c.287A>C; p.Q96P; 11:64809823-64809823	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.851C>A; p.A284E; 11:64807072-64807072	pancreas	carcinoma	Substitution - Missense
c.654+1G>T; p.?; 11:64807890-64807890	pancreas	carcinoid-endocrine_tumour	Unknown
c.178G>T; p.E60*; 11:64809932-64809932	parathyroid	adenoma	Substitution - Nonsense
c.1254C>T; p.D418D; 11:64805130-64805130	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.539A>T; p.D180V; 11:64808006-64808006	parathyroid	adenoma	Substitution - Missense
c.774G>C; p.Q258H; 11:64807561-64807561	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1254C>T; p.D418D; 11:64805130-64805130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.734delC; p.P245fs*36; 11:64807601-64807601	pancreas	carcinoid-endocrine_tumour; glucagonoma	Deletion - Frameshift
c.1254C>T; p.D418D; 11:64805130-64805130	thyroid	other; neoplasm	Substitution - coding silent
c.412delG; p.A138fs*47; 11:64809698-64809698	pancreas	carcinoid-endocrine_tumour; vipoma	Deletion - Frameshift
c.201_202insG; p.A68fs*49; 11:64809908-64809909	parathyroid	adenoma	Insertion - Frameshift
c.1084_1091delAAGGAGTT; p.K362fs*2; 11:64805729-64805736	parathyroid	adenoma	Deletion - Frameshift
c.758C>T; p.S253L; 11:64807577-64807577	prostate	carcinoma	Substitution - Missense
c.1310C>A; p.A437D; 11:64805074-64805074	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.758C>T; p.S253L; 11:64807577-64807577	prostate	carcinoma	Substitution - Missense
c.1351-4C>T; p.?; 11:64804820-64804820	adrenal_gland; adrenal_gland	adrenal_cortical_hyperplasia	Unknown
c.758C>T; p.S253L; 11:64807577-64807577	parathyroid	adenoma-hyperplasia_NS	Substitution - Missense
c.435C>G; p.S145R; 11:64809675-64809675	pancreas	carcinoid-endocrine_tumour; non_functioning	Substitution - Missense
c.292C>T; p.R98*; 11:64809818-64809818	parathyroid	adenoma	Substitution - Nonsense
c.1102_1108delGCCAATG; p.A368fs*7; 11:64805712-64805718	NS	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.163_173del11; p.P55fs*58; 11:64809937-64809947	parathyroid	adenoma	Deletion - Frameshift
c.1074_1075GG>AA; p.E359K; 11:64805745-64805746	soft_tissue; fibrous_tissue_and_uncertain_o	angiofibroma	Substitution - Missense
c.292C>T; p.R98*; 11:64809818-64809818	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.292C>T; p.R98*; 11:64809818-64809818	gastrointestinal_tract_(site_indeterminate)	carcinoid-endocrine_tumour; gastrinoma	Substitution - Nonsense
c.292C>T; p.R98*; 11:64809818-64809818	pancreas	carcinoid-endocrine_tumour; non_functioning	Substitution - Nonsense
c.1102_1108delGCCAATG; p.A368fs*7; 11:64805712-64805718	small_intestine; duodenum	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.1351delG; p.V451fs*7; 11:64804816-64804816	lung	carcinoid-endocrine_tumour; atypical	Deletion - Frameshift
c.292C>T; p.R98*; 11:64809818-64809818	parathyroid	adenoma	Substitution - Nonsense
c.1102_1108delGCCAATG; p.A368fs*7; 11:64805712-64805718	small_intestine; duodenum	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.156_156delC; p.V53fs*66; 11:64809954-64809954	pancreas	carcinoid-endocrine_tumour	Deletion - Frameshift
c.135G>C; p.E45D; 11:64809975-64809975	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.8_42>GGCCT; p.L3_R14>RP; 11:64810068-64810102	parathyroid	hyperplasia	Complex - deletion inframe
c.510C>T; p.L170L; 11:64808035-64808035	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.292delC; p.R98fs*21; 11:64809818-64809818	parathyroid	adenoma	Deletion - Frameshift
c.781C>T; p.Q261*; 11:64807554-64807554	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.959C>A; p.P320H; 11:64806322-64806322	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.387C>G; p.L129L; 11:64809723-64809723	breast	carcinoma	Substitution - coding silent
c.1367G>A; p.R456H; 11:64804800-64804800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.373_374delAT; p.I125fs*54; 11:64809736-64809737	NS	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.373_374delAT; p.I125fs*54; 11:64809736-64809737	NS	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.673G>T; p.G225*; 11:64807662-64807662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.650A>T; p.E217V; 11:64807895-64807895	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.361_362insGGAG; p.V121fs*60; 11:64809748-64809749	parathyroid	adenoma	Insertion - Frameshift
c.373_374delAT; p.I125fs*54; 11:64809736-64809737	pancreas	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.1740G>A; p.T580T; 11:64804427-64804427	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1740G>A; p.T580T; 11:64804427-64804427	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1342G>T; p.E448*; 11:64805042-64805042	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Nonsense
c.1740G>A; p.T580T; 11:64804427-64804427	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1049+1G>C; p.?; 11:64806231-64806231	pancreas	carcinoid-endocrine_tumour	Unknown
c.1283C>T; p.P428L; 11:64805101-64805101	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.984C>T; p.H328H; 11:64806297-64806297	ovary	other; neoplasm	Substitution - coding silent
c.1820G>A; p.R607H; 11:64804347-64804347	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.923C>T; p.S308L; 11:64806358-64806358	urinary_tract; bladder	carcinoma	Substitution - Missense
c.617_624delGCAGGGGC; p.R206fs*9; 11:64807921-64807928	parathyroid	adenoma	Deletion - Frameshift
c.721_724delTGTG; p.C241fs*39; 11:64807611-64807614	parathyroid	adenoma	Deletion - Frameshift
c.912+1delG; p.?; 11:64807010-64807010	parathyroid	hyperplasia	Unknown
c.387C>T; p.L129L; 11:64809723-64809723	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.751_751delA; p.T251fs*30; 11:64807584-64807584	parathyroid	adenoma	Deletion - Frameshift
c.484_485GT>TG; p.V162C; 11:64808060-64808061	pancreas	carcinoid-endocrine_tumour; gastrinoma	Substitution - Missense
c.473C>T; p.A158V; 11:64808072-64808072	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1636_1637insCCACCGCC; p.E547fs*15; 11:64804530-64804531	parathyroid	adenoma	Insertion - Frameshift
c.230_230delA; p.Y77fs*42; 11:64809880-64809880	parathyroid	adenoma	Deletion - Frameshift
c.515A>T; p.D172V; 11:64808030-64808030	lung	carcinoid-endocrine_tumour	Substitution - Missense
c.230_230delA; p.Y77fs*42; 11:64809880-64809880	parathyroid	adenoma	Deletion - Frameshift
c.230_230delA; p.Y77fs*42; 11:64809880-64809880	parathyroid	adenoma	Deletion - Frameshift
c.427_427delC; p.L143fs*42; 11:64809683-64809683	lung	carcinoid-endocrine_tumour; typical	Deletion - Frameshift
c.1628C>A; p.S543*; 11:64804539-64804539	pancreas	carcinoid-endocrine_tumour; islet_cell	Substitution - Nonsense
c.1245_1245delA; p.F416fs*29; 11:64805139-64805139	parathyroid	adenoma	Deletion - Frameshift
c.536A>G; p.E179G; 11:64808009-64808009	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.1071C>T; p.D357D; 11:64805749-64805749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1378C>T; p.R460*; 11:64804789-64804789	parathyroid	adenoma	Substitution - Nonsense
c.1396G>A; p.E466K; 11:64804771-64804771	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.248delT; p.L83fs*36; 11:64809862-64809862	pancreas	carcinoma	Deletion - Frameshift
c.1830C>A; p.L610L; 11:64804337-64804337	skin	malignant_melanoma	Substitution - coding silent
c.871C>G; p.P291A; 11:64807052-64807052	parathyroid	adenoma	Substitution - Missense
c.812G>C; p.G271A; 11:64807191-64807191	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.960C>A; p.P320P; 11:64806321-64806321	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1206C>T; p.S402S; 11:64805178-64805178	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1720G>T; p.A574S; 11:64804447-64804447	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.960C>A; p.P320P; 11:64806321-64806321	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.37_97del61; p.L13fs*86; 11:64810013-64810073	pancreas	carcinoid-endocrine_tumour; gastrinoma	Deletion - Frameshift
c.868G>C; p.E290Q; 11:64807055-64807055	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.325G>T; p.E109*; 11:64809785-64809785	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma	Substitution - Nonsense
c.871C>T; p.P291S; 11:64807052-64807052	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1654A>T; p.T552S; 11:64804513-64804513	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1654A>T; p.T552S; 11:64804513-64804513	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma	Substitution - Missense
c.125G>A; p.G42D; 11:64809985-64809985	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.125G>A; p.G42D; 11:64809985-64809985	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; non_functioning	Substitution - Missense
c.88G>T; p.E30*; 11:64810022-64810022	pancreas	carcinoid-endocrine_tumour	Substitution - Nonsense
c.852A>G; p.A284A; 11:64807071-64807071	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1508G>A; p.G503D; 11:64804659-64804659	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.912+2T>A; p.?; 11:64807009-64807009	parathyroid	adenoma-hyperplasia_NS	Unknown
c.65T>G; p.L22R; 11:64810045-64810045	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.89A>G; p.E30G; 11:64810021-64810021	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1659C>G; p.F553L; 11:64804508-64804508	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.725_742del18; p.A242_I247del; 11:64807593-64807610	parathyroid	adenoma	Deletion - In frame
c.686G>A; p.R229H; 11:64807649-64807649	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.76G>A; p.E26K; 11:64810034-64810034	parathyroid	adenoma	Substitution - Missense
c.686G>A; p.R229H; 11:64807649-64807649	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.415C>T; p.H139Y; 11:64809695-64809695	parathyroid	adenoma	Substitution - Missense
c.1327T>C; p.S443P; 11:64805057-64805057	parathyroid	adenoma	Substitution - Missense
c.1327T>C; p.S443P; 11:64805057-64805057	parathyroid	adenoma	Substitution - Missense
c.139T>A; p.F47I; 11:64809971-64809971	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1217delA; p.D406fs*39; 11:64805167-64805167	retroperitoneum	carcinoid-endocrine_tumour	Deletion - Frameshift
c.1361_1362delAG; p.K454fs*76; 11:64804805-64804806	parathyroid	hyperplasia	Deletion - Frameshift
c.258_261delCGCC; p.I86fs*32; 11:64809849-64809852	parathyroid	adenoma	Deletion - Frameshift
c.590_591CC>TT; p.T197I; 11:64807954-64807955	skin	malignant_melanoma	Substitution - Missense
c.1252G>T; p.D418Y; 11:64805132-64805132	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.784_804del21; p.K262_Y268del; 11:64807199-64807219	parathyroid	adenoma	Deletion - In frame
c.794_802del9; p.W265_L267del; 11:64807201-64807209	parathyroid	adenoma	Deletion - In frame
c.1482_1483insC; p.K496fs*35; 11:64804684-64804685	parathyroid	adenoma	Insertion - Frameshift
c.134A>T; p.E45V; 11:64809976-64809976	lung	carcinoid-endocrine_tumour	Substitution - Missense
c.533C>A; p.S178Y; 11:64808012-64808012	pancreas	carcinoid-endocrine_tumour; non_functioning	Substitution - Missense
c.655-1G>A; p.?; 11:64807681-64807681	liver	carcinoma	Unknown
c.655-1G>A; p.?; 11:64807681-64807681	liver	carcinoma	Unknown
c.1439G>A; p.R480Q; 11:64804728-64804728	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.207_220del14; p.D70fs*42; 11:64809890-64809903	parathyroid	adenoma	Deletion - Frameshift
c.1-20_51del71; p.?; 11:64810059-64810129	parathyroid	adenoma	Unknown
c.1125_1128delGCTG; p.L376fs*68; 11:64805692-64805695	parathyroid	adenoma	Deletion - Frameshift
c.1410G>A; p.P470P; 11:64804757-64804757	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.479C>A; p.A160D; 11:64808066-64808066	parathyroid	adenoma	Substitution - Missense
c.479C>A; p.A160D; 11:64808066-64808066	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.330_346del17; p.G111fs*63; 11:64809764-64809780	pancreas	carcinoid-endocrine_tumour	Deletion - Frameshift

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]