Entrez Gene

Basic Information
Gene ID	4627
Name	MYH9
Synonymous	myosin, heavy chain 9, non-muscle;MYH9;myosin, heavy chain 9, non-muscle
Definition	cellular myosin heavy chain, type A\|myosin-9\|non-muscle myosin heavy chain A\|non-muscle myosin heavy chain IIa\|non-muscle myosin heavy polypeptide 9\|nonmuscle myosin heavy chain II-A
Position	22q13.1
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 0.13.

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.2608G>T; p.E870*; 22:36301557-36301557	breast	carcinoma	Substitution - Nonsense
c.2326G>T; p.D776Y; 22:36304059-36304059	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1615_1625del11; p.D539fs*25; 22:36312152-36312162	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1659C>T; p.H553H; 22:36312118-36312118	pancreas	carcinoma	Substitution - coding silent
c.2629C>T; p.Q877*; 22:36301536-36301536	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4856T>G; p.L1619R; 22:36288328-36288328	prostate	carcinoma	Substitution - Missense
c.4019C>T; p.S1340F; 22:36293405-36293405	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1683G>T; p.Q561H; 22:36312094-36312094	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1826C>T; p.S609L; 22:36309299-36309299	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1192C>T; p.R398W; 22:36318242-36318242	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.333+1G>A; p.?; 22:36348903-36348903	pancreas	carcinoma; acinar_carcinoma	Unknown
c.1287G>A; p.L429L; 22:36316610-36316610	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2460G>A; p.L820L; 22:36302607-36302607	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1420G>C; p.E474Q; 22:36314279-36314279	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1287G>A; p.L429L; 22:36316610-36316610	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.3210G>T; p.Q1070H; 22:36296905-36296905	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4818G>A; p.S1606S; 22:36288366-36288366	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1779T>G; p.N593K; 22:36309346-36309346	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3881G>A; p.S1294N; 22:36293820-36293820	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1167C>T; p.I389I; 22:36318267-36318267	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.5109G>C; p.R1703R; 22:36285906-36285906	breast	carcinoma	Substitution - coding silent
c.3214G>A; p.A1072T; 22:36296901-36296901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1211C>T; p.A404V; 22:36318223-36318223	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.229C>G; p.P77A; 22:36349008-36349008	thyroid	other; neoplasm	Substitution - Missense
c.1211C>T; p.A404V; 22:36318223-36318223	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4324A>C; p.K1442Q; 22:36292006-36292006	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3272+2T>G; p.?; 22:36296841-36296841	breast	carcinoma	Unknown
c.2604C>G; p.L868L; 22:36301561-36301561	breast	carcinoma	Substitution - coding silent
c.4396C>T; p.R1466W; 22:36289246-36289246	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.718C>T; p.R240C; 22:36321809-36321809	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3343G>A; p.E1115K; 22:36295647-36295647	skin	malignant_melanoma	Substitution - Missense
c.4800C>T; p.D1600D; 22:36288384-36288384	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1407C>G; p.I469M; 22:36314292-36314292	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4420_4422delAAG; p.K1474delK; 22:36289220-36289222	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.687T>C; p.N229N; 22:36322447-36322447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3624G>A; p.T1208T; 22:36294938-36294938	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1949A>G; p.Y650C; 22:36306502-36306502	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.584C>T; p.A195V; 22:36326596-36326596	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3060delG; p.K1020fs*9; 22:36298959-36298959	breast	carcinoma	Deletion - Frameshift
c.4727G>A; p.R1576Q; 22:36288770-36288770	oesophagus	carcinoma	Substitution - Missense
c.1458C>A; p.I486I; 22:36314241-36314241	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3540C>A; p.A1180A; 22:36295022-36295022	kidney	other; neoplasm	Substitution - coding silent
c.1150G>A; p.D384N; 22:36318284-36318284	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5735G>A; p.R1912H; 22:36284123-36284123	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5489G>A; p.R1830H; 22:36284506-36284506	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2531A>G; p.E844G; 22:36301634-36301634	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5735G>A; p.R1912H; 22:36284123-36284123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5281C>T; p.Q1761*; 22:36285323-36285323	skin	malignant_melanoma	Substitution - Nonsense
c.2347A>G; p.I783V; 22:36304038-36304038	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5734C>T; p.R1912C; 22:36284124-36284124	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.25T>C; p.Y9H; 22:36349212-36349212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5021A>C; p.K1674T; 22:36286758-36286758	pleura	pulmonary_blastoma	Substitution - Missense
c.25T>C; p.Y9H; 22:36349212-36349212	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3693C>T; p.N1231N; 22:36294236-36294236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.839T>A; p.L280H; 22:36320827-36320827	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4041G>A; p.E1347E; 22:36293383-36293383	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5033T>C; p.M1678T; 22:36286746-36286746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4982G>A; p.R1661H; 22:36286797-36286797	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5860G>A; p.A1954T; 22:36282691-36282691	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3914C>T; p.A1305V; 22:36293787-36293787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3858C>A; p.T1286T; 22:36293843-36293843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3320G>A; p.R1107Q; 22:36295670-36295670	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4932+8T>G; p.?; 22:36288244-36288244	pancreas	carcinoid-endocrine_tumour	Unknown
c.3561C>T; p.I1187I; 22:36295001-36295001	skin	malignant_melanoma	Substitution - coding silent
c.3783C>G; p.F1261L; 22:36294146-36294146	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.130G>T; p.A44S; 22:36349107-36349107	kidney	other; neoplasm	Substitution - Missense
c.3872A>G; p.Q1291R; 22:36293829-36293829	liver	carcinoma	Substitution - Missense
c.1746C>T; p.D582D; 22:36309379-36309379	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1389G>A; p.S463S; 22:36314310-36314310	liver	carcinoma	Substitution - coding silent
c.5515C>T; p.R1839W; 22:36284480-36284480	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4964A>T; p.D1655V; 22:36286815-36286815	kidney	other; neoplasm	Substitution - Missense
c.1389G>A; p.S463S; 22:36314310-36314310	liver	carcinoma	Substitution - coding silent
c.2982G>T; p.K994N; 22:36299037-36299037	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5515C>T; p.R1839W; 22:36284480-36284480	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1129C>T; p.L377F; 22:36318305-36318305	skin	malignant_melanoma	Substitution - Missense
c.3840G>T; p.V1280V; 22:36293861-36293861	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.3840G>T; p.V1280V; 22:36293861-36293861	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2865G>A; p.E955E; 22:36300238-36300238	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1492G>A; p.E498K; 22:36314207-36314207	breast	carcinoma	Substitution - Missense
c.934G>T; p.G312W; 22:36320298-36320298	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1477C>T; p.Q493*; 22:36314222-36314222	oesophagus	carcinoma	Substitution - Nonsense
c.3983_3984insGAG; p.L1327_S1328insR; 22:36293440-36293441	lung	carcinoma; small_cell_carcinoma	Insertion - In frame
c.1939G>T; p.G647W; 22:36306512-36306512	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1565delC; p.P522fs*25; 22:36312212-36312212	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1565delC; p.P522fs*25; 22:36312212-36312212	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.4801G>T; p.E1601*; 22:36288383-36288383	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2043_2060del18; p.K682_L687delKLDPHL; 22:36306029-36306046	breast	carcinoma	Deletion - In frame
c.333C>T; p.Y111Y; 22:36348904-36348904	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4670G>A; p.R1557Q; 22:36288827-36288827	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5845G>T; p.G1949C; 22:36282706-36282706	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4939A>C; p.M1647L; 22:36286840-36286840	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1173_1174CC>TT; p.P392S; 22:36318260-36318261	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3817G>A; p.D1273N; 22:36294112-36294112	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5719G>A; p.A1907T; 22:36284139-36284139	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1242C>T; p.I414I; 22:36316655-36316655	skin	malignant_melanoma	Substitution - coding silent
c.4617G>A; p.T1539T; 22:36288880-36288880	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2576A>T; p.E859V; 22:36301589-36301589	breast	carcinoma	Substitution - Missense
c.2248G>C; p.D750H; 22:36304137-36304137	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5632C>T; p.Q1878*; 22:36284226-36284226	breast	carcinoma	Substitution - Nonsense
c.4165A>C; p.K1389Q; 22:36292165-36292165	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5329G>A; p.E1777K; 22:36285275-36285275	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1178G>A; p.R393H; 22:36318256-36318256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1178G>A; p.R393H; 22:36318256-36318256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2938C>T; p.Q980*; 22:36300165-36300165	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2408A>G; p.Q803R; 22:36302659-36302659	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2408A>G; p.Q803R; 22:36302659-36302659	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4200_4202delGCA; p.H1401del; 22:36292128-36292130	breast	carcinoma; ductal_carcinoma	Deletion - In frame
c.1227+2T>C; p.?; 22:36318205-36318205	breast	carcinoma	Unknown
c.1148C>T; p.T383I; 22:36318286-36318286	skin	malignant_melanoma	Substitution - Missense
c.1201G>A; p.V401I; 22:36318233-36318233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5174G>A; p.R1725Q; 22:36285758-36285758	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5305G>T; p.E1769*; 22:36285299-36285299	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.4852G>T; p.D1618Y; 22:36288332-36288332	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3960G>T; p.E1320D; 22:36293464-36293464	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.274C>G; p.L92V; 22:36348963-36348963	breast	carcinoma	Substitution - Missense
c.2769G>A; p.R923R; 22:36300920-36300920	skin	malignant_melanoma	Substitution - coding silent
c.3198G>T; p.E1066D; 22:36296917-36296917	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.3097G>A; p.E1033K; 22:36298922-36298922	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.2750G>A; p.C917Y; 22:36300939-36300939	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2785_2787delGAG; p.E929delE; 22:36300902-36300904	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.2230-1G>C; p.?; 22:36304156-36304156	lung	carcinoma; adenocarcinoma	Unknown
c.5573C>T; p.A1858V; 22:36284422-36284422	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2058T>C; p.H686H; 22:36306031-36306031	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2785_2787delGAG; p.E929delE; 22:36300902-36300904	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - In frame
c.2305G>A; p.A769T; 22:36304080-36304080	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2405G>T; p.R802L; 22:36302662-36302662	breast	carcinoma	Substitution - Missense
c.19G>A; p.D7N; 22:36349218-36349218	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1314C>A; p.D438E; 22:36316583-36316583	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.435G>C; p.E145D; 22:36341425-36341425	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4018T>A; p.S1340T; 22:36293406-36293406	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3054C>T; p.L1018L; 22:36298965-36298965	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1384A>T; p.N462Y; 22:36314315-36314315	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.736A>C; p.N246H; 22:36321791-36321791	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4250G>A; p.R1417Q; 22:36292080-36292080	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.280G>A; p.E94K; 22:36348957-36348957	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5188C>T; p.R1730C; 22:36285744-36285744	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5188C>T; p.R1730C; 22:36285744-36285744	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5559C>T; p.D1853D; 22:36284436-36284436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5188C>T; p.R1730C; 22:36285744-36285744	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4218C>T; p.A1406A; 22:36292112-36292112	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3958_3960delGAG; p.E1320delE; 22:36293464-36293466	breast	carcinoma	Deletion - In frame
c.2994A>G; p.E998E; 22:36299025-36299025	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2100C>T; p.G700G; 22:36305989-36305989	skin	malignant_melanoma	Substitution - coding silent
c.4526T>G; p.L1509R; 22:36289116-36289116	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4128T>G; p.S1376R; 22:36292202-36292202	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.869-1G>A; p.?; 22:36320364-36320364	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3597G>T; p.E1199D; 22:36294965-36294965	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4437G>T; p.L1479L; 22:36289205-36289205	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2856G>A; p.L952L; 22:36300247-36300247	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2493C>T; p.F831F; 22:36302574-36302574	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3215C>T; p.A1072V; 22:36296900-36296900	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1462G>C; p.E488Q; 22:36314237-36314237	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.870C>T; p.T290T; 22:36320362-36320362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.870C>T; p.T290T; 22:36320362-36320362	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2913G>A; p.A971A; 22:36300190-36300190	prostate	adenoma	Substitution - coding silent
c.3091G>T; p.D1031Y; 22:36298928-36298928	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2378A>G; p.Y793C; 22:36304007-36304007	liver	carcinoma	Substitution - Missense
c.4447C>T; p.R1483W; 22:36289195-36289195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4535C>T; p.S1512F; 22:36289107-36289107	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4903G>A; p.E1635K; 22:36288281-36288281	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4447C>T; p.R1483W; 22:36289195-36289195	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2214G>A; p.Q738Q; 22:36305048-36305048	bone; femur	chondrosarcoma	Substitution - coding silent
c.5716A>C; p.T1906P; 22:36284142-36284142	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2697T>G; p.A899A; 22:36300992-36300992	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2788_2789insGAG; p.R930_C931insG; 22:36300900-36300901	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2697T>G; p.A899A; 22:36300992-36300992	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2697T>G; p.A899A; 22:36300992-36300992	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4306G>A; p.A1436T; 22:36292024-36292024	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2697T>G; p.A899A; 22:36300992-36300992	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4306G>A; p.A1436T; 22:36292024-36292024	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2500-47_2631+81del260; p.?; 22:36301453-36301712	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Unknown
c.5195C>T; p.A1732V; 22:36285737-36285737	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5305G>A; p.E1769K; 22:36285299-36285299	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.5075C>T; p.A1692V; 22:36285940-36285940	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4439C>T; p.S1480L; 22:36289203-36289203	liver	carcinoma	Substitution - Missense
c.3796C>A; p.R1266S; 22:36294133-36294133	skin	malignant_melanoma	Substitution - Missense
c.4020C>T; p.S1340S; 22:36293404-36293404	skin	malignant_melanoma	Substitution - coding silent
c.1615G>A; p.D539N; 22:36312162-36312162	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5409C>T; p.S1803S; 22:36285195-36285195	skin	malignant_melanoma	Substitution - coding silent
c.4020C>T; p.S1340S; 22:36293404-36293404	skin	malignant_melanoma	Substitution - coding silent
c.3978C>G; p.S1326R; 22:36293446-36293446	pancreas	carcinoma	Substitution - Missense
c.1916G>A; p.R639Q; 22:36306535-36306535	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.51C>T; p.I17I; 22:36349186-36349186	liver	carcinoma	Substitution - coding silent
c.1916G>A; p.R639Q; 22:36306535-36306535	pancreas	carcinoma	Substitution - Missense
c.51C>T; p.I17I; 22:36349186-36349186	liver	carcinoma	Substitution - coding silent
c.3879C>T; p.D1293D; 22:36293822-36293822	breast	carcinoma	Substitution - coding silent
c.2577G>T; p.E859D; 22:36301588-36301588	breast	carcinoma	Substitution - Missense
c.2215G>T; p.A739S; 22:36305047-36305047	bone; femur	chondrosarcoma	Substitution - Missense
c.3339C>A; p.I1113I; 22:36295651-36295651	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2743G>A; p.E915K; 22:36300946-36300946	urinary_tract; bladder	carcinoma	Substitution - Missense
c.858G>C; p.E286D; 22:36320808-36320808	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5833G>T; p.E1945*; 22:36282718-36282718	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Nonsense
c.494G>A; p.R165Q; 22:36327485-36327485	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1455C>T; p.F485F; 22:36314244-36314244	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1660C>T; p.P554S; 22:36312117-36312117	skin	malignant_melanoma	Substitution - Missense
c.2736A>C; p.E912D; 22:36300953-36300953	breast	carcinoma	Substitution - Missense
c.638A>C; p.Q213P; 22:36322496-36322496	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.379C>T; p.L127L; 22:36341481-36341481	breast	carcinoma	Substitution - coding silent
c.2721C>T; p.T907T; 22:36300968-36300968	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1991C>T; p.T664M; 22:36306460-36306460	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5798G>C; p.R1933P; 22:36282753-36282753	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.3744G>A; p.K1248K; 22:36294185-36294185	breast	carcinoma	Substitution - coding silent
c.445C>G; p.H149D; 22:36341415-36341415	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4307C>T; p.A1436V; 22:36292023-36292023	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4592A>T; p.E1531V; 22:36288905-36288905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1648C>T; p.Q550*; 22:36312129-36312129	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3349C>T; p.Q1117*; 22:36295641-36295641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.585G>A; p.A195A; 22:36326595-36326595	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5788G>A; p.V1930M; 22:36282763-36282763	pancreas	carcinoma	Substitution - Missense
c.2787G>T; p.E929D; 22:36300902-36300902	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3586C>T; p.Q1196*; 22:36294976-36294976	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2283C>T; p.V761V; 22:36304102-36304102	skin	malignant_melanoma	Substitution - coding silent
c.3086T>C; p.I1029T; 22:36298933-36298933	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5614C>T; p.L1872L; 22:36284244-36284244	skin	malignant_melanoma	Substitution - coding silent
c.5340G>A; p.R1780R; 22:36285264-36285264	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2774A>T; p.E925V; 22:36300915-36300915	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2893G>C; p.E965Q; 22:36300210-36300210	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2821_2822insAGA; p.K940_M941insK; 22:36300867-36300868	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - In frame
c.2774A>T; p.E925V; 22:36300915-36300915	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2774A>T; p.E925V; 22:36300915-36300915	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3777C>A; p.V1259V; 22:36294152-36294152	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3619C>T; p.Q1207*; 22:36294943-36294943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1573C>G; p.L525V; 22:36312204-36312204	urinary_tract; bladder	carcinoma	Substitution - Missense
c.811G>T; p.E271*; 22:36320855-36320855	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4220C>T; p.A1407V; 22:36292110-36292110	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3141G>A; p.E1047E; 22:36296974-36296974	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.518+1G>A; p.?; 22:36327460-36327460	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.815G>A; p.R272Q; 22:36320851-36320851	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4112A>G; p.K1371R; 22:36292218-36292218	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1877G>A; p.G626D; 22:36306574-36306574	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2496C>T; p.T832T; 22:36302571-36302571	skin	malignant_melanoma	Substitution - coding silent
c.3665delT; p.L1222fs*12; 22:36294264-36294264	NS	malignant_melanoma	Deletion - Frameshift
c.4591G>T; p.E1531*; 22:36288906-36288906	breast	carcinoma	Substitution - Nonsense
c.5302C>T; p.L1768L; 22:36285302-36285302	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3799G>A; p.V1267M; 22:36294130-36294130	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3799G>A; p.V1267M; 22:36294130-36294130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3607G>A; p.E1203K; 22:36294955-36294955	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1103A>G; p.N368S; 22:36319545-36319545	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3389C>T; p.A1130V; 22:36295601-36295601	thyroid	other; neoplasm	Substitution - Missense
c.5542C>T; p.L1848L; 22:36284453-36284453	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5106G>A; p.E1702E; 22:36285909-36285909	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3894G>A; p.K1298K; 22:36293807-36293807	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4009G>A; p.E1337K; 22:36293415-36293415	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3007G>A; p.E1003K; 22:36299012-36299012	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5063A>G; p.E1688G; 22:36285952-36285952	thyroid	other; neoplasm	Substitution - Missense
c.4564G>A; p.E1522K; 22:36288933-36288933	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2358C>T; p.F786F; 22:36304027-36304027	skin	malignant_melanoma	Substitution - coding silent
c.5124C>T; p.D1708D; 22:36285891-36285891	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.698C>T; p.S233F; 22:36322436-36322436	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4597C>T; p.Q1533*; 22:36288900-36288900	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.698C>T; p.S233F; 22:36322436-36322436	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4261G>C; p.E1421Q; 22:36292069-36292069	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5306A>G; p.E1769G; 22:36285298-36285298	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4200_4202delGCA; p.H1401_E1402>E; 22:36292128-36292130	breast	carcinoma; ductal_carcinoma	Complex - deletion inframe
c.176T>C; p.V59A; 22:36349061-36349061	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.781A>T; p.K261*; 22:36320885-36320885	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3213C>T; p.I1071I; 22:36296902-36296902	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4261G>C; p.E1421Q; 22:36292069-36292069	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3201C>T; p.L1067L; 22:36296914-36296914	skin	malignant_melanoma	Substitution - coding silent
c.1522C>A; p.L508M; 22:36314177-36314177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3667G>T; p.E1223*; 22:36294262-36294262	skin	malignant_melanoma	Substitution - Nonsense
c.5274+2T>C; p.?; 22:36285656-36285656	stomach	carcinoma; adenocarcinoma	Unknown
c.4671G>A; p.R1557R; 22:36288826-36288826	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.165C>T; p.I55I; 22:36349072-36349072	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.28C>G; p.L10V; 22:36349209-36349209	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2577_2578insCTC; p.E859_K860insL; 22:36301587-36301588	breast	carcinoma	Insertion - In frame
c.2441G>A; p.R814Q; 22:36302626-36302626	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3859G>A; p.G1287R; 22:36293842-36293842	skin	malignant_melanoma	Substitution - Missense
c.1585G>T; p.D529Y; 22:36312192-36312192	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2836C>A; p.Q946K; 22:36300853-36300853	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4415G>C; p.R1472P; 22:36289227-36289227	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2968C>T; p.L990L; 22:36300135-36300135	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1578C>T; p.A526A; 22:36312199-36312199	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.50_52delTCA; p.I17delI; 22:36349185-36349187	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.1913C>T; p.T638M; 22:36306538-36306538	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4644G>A; p.L1548L; 22:36288853-36288853	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1369G>A; p.E457K; 22:36316528-36316528	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2874C>T; p.A958A; 22:36300229-36300229	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1369G>A; p.E457K; 22:36316528-36316528	ovary	other; neoplasm	Substitution - Missense
c.4039G>A; p.E1347K; 22:36293385-36293385	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1369G>A; p.E457K; 22:36316528-36316528	ovary	other; neoplasm	Substitution - Missense
c.3341C>G; p.S1114C; 22:36295649-36295649	breast	carcinoma	Substitution - Missense
c.3026C>T; p.T1009I; 22:36298993-36298993	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4954C>T; p.R1652C; 22:36286825-36286825	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3249G>A; p.E1083E; 22:36296866-36296866	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5293G>A; p.D1765N; 22:36285311-36285311	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1747G>A; p.E583K; 22:36309378-36309378	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1747G>A; p.E583K; 22:36309378-36309378	prostate	carcinoma	Substitution - Missense
c.4982G>T; p.R1661L; 22:36286797-36286797	liver	carcinoma	Substitution - Missense
c.2440C>T; p.R814W; 22:36302627-36302627	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1397A>T; p.Q466L; 22:36314302-36314302	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.4814G>T; p.R1605L; 22:36288370-36288370	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3745_3768del24; p.K1249_E1256delKVEAQLQE; 22:36294161-36294184	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.2062G>A; p.V688M; 22:36306027-36306027	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1174C>T; p.P392S; 22:36318260-36318260	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.498A>G; p.E166E; 22:36327481-36327481	liver	carcinoma	Substitution - coding silent
c.1174C>T; p.P392S; 22:36318260-36318260	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1553C>T; p.P518L; 22:36314146-36314146	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4068G>A; p.E1356E; 22:36293356-36293356	NS	NS	Substitution - coding silent
c.2008C>T; p.R670C; 22:36306443-36306443	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5588A>G; p.D1863G; 22:36284407-36284407	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3127C>T; p.R1043*; 22:36296988-36296988	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5591A>C; p.Q1864P; 22:36284404-36284404	breast	carcinoma	Substitution - Missense
c.3488C>G; p.S1163*; 22:36295074-36295074	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.468C>T; p.T156T; 22:36341392-36341392	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5020_5022delAAG; p.K1674delK; 22:36286757-36286759	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.701G>A; p.R234H; 22:36322433-36322433	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4024C>T; p.R1342W; 22:36293400-36293400	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5646C>T; p.A1882A; 22:36284212-36284212	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5595C>T; p.A1865A; 22:36284263-36284263	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5721C>T; p.A1907A; 22:36284137-36284137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1088C>T; p.A363V; 22:36319560-36319560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.272G>A; p.C91Y; 22:36348965-36348965	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.440C>T; p.P147L; 22:36341420-36341420	skin	malignant_melanoma	Substitution - Missense
c.134G>A; p.S45N; 22:36349103-36349103	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4622T>C; p.L1541P; 22:36288875-36288875	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1506C>T; p.I502I; 22:36314193-36314193	skin	malignant_melanoma	Substitution - coding silent
c.5512C>T; p.R1838C; 22:36284483-36284483	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5512C>T; p.R1838C; 22:36284483-36284483	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3195C>T; p.A1065A; 22:36296920-36296920	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3195C>T; p.A1065A; 22:36296920-36296920	liver	carcinoma	Substitution - coding silent
c.2427G>A; p.M809I; 22:36302640-36302640	skin	malignant_melanoma	Substitution - Missense
c.5448T>C; p.I1816I; 22:36285156-36285156	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5297T>C; p.L1766P; 22:36285307-36285307	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.2404C>T; p.R802W; 22:36302663-36302663	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2T>C; p.M1T; 22:36349235-36349235	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2T>C; p.M1T; 22:36349235-36349235	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1898C>T; p.P633L; 22:36306553-36306553	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1262C>A; p.T421N; 22:36316635-36316635	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2T>C; p.M1T; 22:36349235-36349235	large_intestine; colon	carcinoma	Substitution - Missense
c.2008C>A; p.R670S; 22:36306443-36306443	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2T>C; p.M1T; 22:36349235-36349235	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2968C>A; p.L990M; 22:36300135-36300135	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3758A>C; p.Q1253P; 22:36294171-36294171	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5863G>A; p.E1955K; 22:36282688-36282688	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2968C>A; p.L990M; 22:36300135-36300135	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4078G>A; p.A1360T; 22:36293346-36293346	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.705+1G>A; p.?; 22:36322428-36322428	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.4817C>T; p.S1606L; 22:36288367-36288367	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.787C>T; p.R263C; 22:36320879-36320879	skin	malignant_melanoma	Substitution - Missense
c.2159+2T>C; p.?; 22:36305928-36305928	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.5376C>T; p.V1792V; 22:36285228-36285228	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.615C>T; p.G205G; 22:36322519-36322519	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4296G>A; p.Q1432Q; 22:36292034-36292034	thyroid	other; neoplasm	Substitution - coding silent
c.615C>T; p.G205G; 22:36322519-36322519	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.493C>T; p.R165*; 22:36327486-36327486	kidney	other; neoplasm	Substitution - Nonsense
c.452A>G; p.Y151C; 22:36341408-36341408	liver	carcinoma	Substitution - Missense
c.2499G>T; p.K833N; 22:36302568-36302568	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2290C>T; p.R764C; 22:36304095-36304095	breast	carcinoma	Substitution - Missense
c.2052C>T; p.D684D; 22:36306037-36306037	skin	malignant_melanoma	Substitution - coding silent
c.2399C>T; p.A800V; 22:36302668-36302668	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.540G>T; p.K180N; 22:36326640-36326640	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2951A>G; p.E984G; 22:36300152-36300152	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1519G>C; p.D507H; 22:36314180-36314180	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3037G>T; p.E1013*; 22:36298982-36298982	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4122G>A; p.E1374E; 22:36292208-36292208	skin	malignant_melanoma	Substitution - coding silent
c.1588G>A; p.E530K; 22:36312189-36312189	breast	carcinoma	Substitution - Missense
c.1588G>A; p.E530K; 22:36312189-36312189	breast	carcinoma	Substitution - Missense
c.1588G>A; p.E530K; 22:36312189-36312189	prostate	carcinoma	Substitution - Missense
c.3786C>T; p.N1262N; 22:36294143-36294143	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.495A>T; p.R165R; 22:36327484-36327484	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3720A>G; p.K1240K; 22:36294209-36294209	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2183C>T; p.S728F; 22:36305079-36305079	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2127C>T; p.P709P; 22:36305962-36305962	skin	malignant_melanoma	Substitution - coding silent
c.2146G>C; p.E716Q; 22:36305943-36305943	central_nervous_system; thalamus	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1565C>T; p.P522L; 22:36312212-36312212	breast	carcinoma	Substitution - Missense
c.4975G>A; p.A1659T; 22:36286804-36286804	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5677C>G; p.R1893G; 22:36284181-36284181	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4049_4051delAGG; p.E1350delE; 22:36293373-36293375	stomach	adenocarcinoma	Deletion - In frame
c.5781G>A; p.P1927P; 22:36282770-36282770	pancreas	NS	Substitution - coding silent
c.5089C>T; p.R1697C; 22:36285926-36285926	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1896G>A; p.L632L; 22:36306555-36306555	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1118A>T; p.K373M; 22:36318316-36318316	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5089C>T; p.R1697C; 22:36285926-36285926	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5546T>C; p.L1849P; 22:36284449-36284449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1193G>A; p.R398Q; 22:36318241-36318241	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1366T>G; p.F456V; 22:36316531-36316531	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1096C>T; p.P366S; 22:36319552-36319552	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2043C>A; p.G681G; 22:36306046-36306046	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4713G>T; p.R1571R; 22:36288784-36288784	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2043C>A; p.G681G; 22:36306046-36306046	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.4717C>A; p.L1573M; 22:36288780-36288780	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3803G>A; p.R1268H; 22:36294126-36294126	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4204G>A; p.E1402K; 22:36292126-36292126	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2490C>T; p.L830L; 22:36302577-36302577	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2655G>T; p.L885L; 22:36301034-36301034	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2237C>T; p.A746V; 22:36304148-36304148	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1158C>T; p.T386T; 22:36318276-36318276	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4866_4867GG>TT; p.E1623*; 22:36288317-36288318	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.224T>C; p.M75T; 22:36349013-36349013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1313A>G; p.D438G; 22:36316584-36316584	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2333A>C; p.K778T; 22:36304052-36304052	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2871C>T; p.S957S; 22:36300232-36300232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.700C>T; p.R234C; 22:36322434-36322434	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.5328C>T; p.N1776N; 22:36285276-36285276	ovary	other; neoplasm	Substitution - coding silent
c.959A>T; p.Q320L; 22:36320273-36320273	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2349C>T; p.I783I; 22:36304036-36304036	skin	malignant_melanoma	Substitution - coding silent
c.109G>C; p.D37H; 22:36349128-36349128	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4448G>A; p.R1483Q; 22:36289194-36289194	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5494G>A; p.A1832T; 22:36284501-36284501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2229G>A; p.M743I; 22:36305033-36305033	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2056C>T; p.H686Y; 22:36306033-36306033	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2056C>T; p.H686Y; 22:36306033-36306033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2056C>T; p.H686Y; 22:36306033-36306033	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2152C>T; p.R718W; 22:36305937-36305937	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1854C>T; p.I618I; 22:36306597-36306597	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3867C>A; p.L1289L; 22:36293834-36293834	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1577C>T; p.A526V; 22:36312200-36312200	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1577C>T; p.A526V; 22:36312200-36312200	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1660C>A; p.P554T; 22:36312117-36312117	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2256T>C; p.N752N; 22:36304129-36304129	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1258G>T; p.A420S; 22:36316639-36316639	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3797G>A; p.R1266H; 22:36294132-36294132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2256T>C; p.N752N; 22:36304129-36304129	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.5338C>A; p.R1780R; 22:36285266-36285266	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1566G>A; p.P522P; 22:36312211-36312211	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5055G>A; p.L1685L; 22:36286724-36286724	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2391_2392delAG; p.K797fs*103; 22:36302675-36302676	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2573G>C; p.R858T; 22:36301592-36301592	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1089G>A; p.A363A; 22:36319559-36319559	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4616C>T; p.T1539M; 22:36288881-36288881	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4616C>T; p.T1539M; 22:36288881-36288881	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1850G>A; p.R617H; 22:36306601-36306601	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1089G>A; p.A363A; 22:36319559-36319559	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2573G>C; p.R858T; 22:36301592-36301592	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1850G>A; p.R617H; 22:36306601-36306601	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2430G>C; p.K810N; 22:36302637-36302637	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3445G>T; p.E1149*; 22:36295545-36295545	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Nonsense
c.5671G>A; p.A1891T; 22:36284187-36284187	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4966G>A; p.D1656N; 22:36286813-36286813	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1056C>T; p.I352I; 22:36319592-36319592	skin	malignant_melanoma	Substitution - coding silent
c.2680G>A; p.E894K; 22:36301009-36301009	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3100G>A; p.E1034K; 22:36298919-36298919	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2007C>G; p.V669V; 22:36306444-36306444	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2119G>C; p.G707R; 22:36305970-36305970	central_nervous_system; thalamus	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1475A>G; p.Y492C; 22:36314224-36314224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4333_4335delAAG; p.K1445delK; 22:36291995-36291997	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.4974C>T; p.R1658R; 22:36286805-36286805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3682delG; p.E1228fs*6; 22:36294247-36294247	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5651A>G; p.E1884G; 22:36284207-36284207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1804C>T; p.Q602*; 22:36309321-36309321	breast	carcinoma	Substitution - Nonsense
c.4510A>G; p.T1504A; 22:36289132-36289132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5807G>A; p.R1936Q; 22:36282744-36282744	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1245G>A; p.E415E; 22:36316652-36316652	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.5647_5658del12; p.E1883_A1886delEEEA; 22:36284200-36284211	lung	carcinoma; adenocarcinoma	Deletion - In frame
c.5251C>T; p.R1751W; 22:36285681-36285681	skin	malignant_melanoma	Substitution - Missense

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]