Entrez Gene

Basic Information
Gene ID	613
Name	BCR
Synonymous	breakpoint cluster region;BCR;breakpoint cluster region
Definition	BCR/FGFR1 chimera protein\|FGFR1/BCR chimera protein\|breakpoint cluster region protein\|renal carcinoma antigen NY-REN-26
Position	22q11.23
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 0.06.

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.598A>G; p.I200V; 22:23181558-23181558	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.979G>A; p.G327S; 22:23181939-23181939	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.934delC; p.R313fs*186; 22:23181894-23181894	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.2632G>C; p.E878Q; 22:23289546-23289546	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1578T>G; p.P526P; 22:23261366-23261366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3075C>T; p.I1025I; 22:23310326-23310326	skin	malignant_melanoma	Substitution - coding silent
c.483C>A; p.I161I; 22:23181443-23181443	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.483C>A; p.I161I; 22:23181443-23181443	thyroid	other; neoplasm	Substitution - coding silent
c.483C>A; p.I161I; 22:23181443-23181443	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2464G>C; p.E822Q; 22:23287216-23287216	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2993T>C; p.M998T; 22:23295136-23295136	large_intestine; colon	NS	Substitution - Missense
c.3316G>A; p.D1106N; 22:23311830-23311830	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2087G>A; p.R696Q; 22:23273746-23273746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.935_936delCC; p.R313fs*9; 22:23181895-23181896	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.2367C>G; p.I789M; 22:23285162-23285162	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3316G>A; p.D1106N; 22:23311830-23311830	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1046A>G; p.Q349R; 22:23182006-23182006	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2700T>C; p.N900N; 22:23289614-23289614	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1803C>A; p.A601A; 22:23268458-23268458	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1738C>T; p.L580F; 22:23261526-23261526	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2700T>C; p.N900N; 22:23289614-23289614	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2546C>T; p.S849F; 22:23288116-23288116	skin	malignant_melanoma	Substitution - Missense
c.634C>T; p.R212C; 22:23181594-23181594	pancreas	carcinoma	Substitution - Missense
c.1772A>G; p.Y591C; 22:23268427-23268427	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3274_3275insCCGG; p.V1094fs*17; 22:23311788-23311789	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1292G>A; p.G431E; 22:23253811-23253811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.134T>C; p.L45P; 22:23181094-23181094	liver	carcinoma	Substitution - Missense
c.134T>C; p.L45P; 22:23181094-23181094	liver	carcinoma	Substitution - Missense
c.1368T>C; p.I456I; 22:23253887-23253887	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3210C>T; p.I1070I; 22:23311724-23311724	skin	malignant_melanoma	Substitution - coding silent
c.3021G>A; p.P1007P; 22:23309432-23309432	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3021G>A; p.P1007P; 22:23309432-23309432	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3021G>A; p.P1007P; 22:23309432-23309432	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1352A>G; p.D451G; 22:23253871-23253871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3611C>G; p.A1204G; 22:23314599-23314599	pancreas	carcinoma	Substitution - Missense
c.3021G>A; p.P1007P; 22:23309432-23309432	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.1542G>T; p.L514L; 22:23261030-23261030	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1542G>T; p.L514L; 22:23261030-23261030	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.922C>T; p.R308C; 22:23181882-23181882	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1975-10C>T; p.?; 22:23273624-23273624	ovary	other; neoplasm	Unknown
c.721G>A; p.G241S; 22:23181681-23181681	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2561G>A; p.R854H; 22:23288131-23288131	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1921+4A>T; p.?; 22:23271596-23271596	liver	carcinoma	Unknown
c.1921+4A>T; p.?; 22:23271596-23271596	liver	carcinoma	Unknown
c.191C>G; p.A64G; 22:23181151-23181151	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.980G>A; p.G327D; 22:23181940-23181940	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1180C>T; p.H394Y; 22:23182140-23182140	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.980G>A; p.G327D; 22:23181940-23181940	urinary_tract; bladder	carcinoma	Substitution - Missense
c.980G>A; p.G327D; 22:23181940-23181940	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.3747C>T; p.F1249F; 22:23315453-23315453	skin	malignant_melanoma	Substitution - coding silent
c.1365C>G; p.Y455*; 22:23253884-23253884	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.3747C>T; p.F1249F; 22:23315453-23315453	skin	malignant_melanoma	Substitution - coding silent
c.36G>T; p.K12N; 22:23180996-23180996	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3543C>T; p.F1181F; 22:23314053-23314053	skin	malignant_melanoma	Substitution - coding silent
c.3543C>T; p.F1181F; 22:23314053-23314053	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3766C>T; p.P1256S; 22:23315472-23315472	skin	malignant_melanoma	Substitution - Missense
c.2628C>G; p.S876S; 22:23289542-23289542	central_nervous_system; brain	glioma	Substitution - coding silent
c.1099A>G; p.S367G; 22:23182059-23182059	liver	carcinoma	Substitution - Missense
c.1099A>G; p.S367G; 22:23182059-23182059	liver	carcinoma	Substitution - Missense
c.825G>C; p.E275D; 22:23181785-23181785	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.86G>A; p.G29D; 22:23181046-23181046	haematopoietic_and_lymphoid_tissue; soft_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1840C>T; p.Q614*; 22:23268495-23268495	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1680C>A; p.F560L; 22:23261468-23261468	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.158G>A; p.R53H; 22:23181118-23181118	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1091G>A; p.R364Q; 22:23182051-23182051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1856C>G; p.S619C; 22:23268511-23268511	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2037C>T; p.R679R; 22:23273696-23273696	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1629C>T; p.I543I; 22:23261417-23261417	skin	malignant_melanoma	Substitution - coding silent
c.2243C>T; p.T748M; 22:23285038-23285038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.956G>A; p.R319Q; 22:23181916-23181916	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1472A>G; p.D491G; 22:23260960-23260960	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2534C>T; p.T845M; 22:23288104-23288104	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1010A>T; p.N337I; 22:23181970-23181970	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.583G>C; p.E195Q; 22:23181543-23181543	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.440C>T; p.P147L; 22:23181400-23181400	skin	malignant_melanoma	Substitution - Missense
c.2105A>C; p.K702T; 22:23273764-23273764	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3052A>G; p.T1018A; 22:23309463-23309463	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3052A>G; p.T1018A; 22:23309463-23309463	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.955C>A; p.R319R; 22:23181915-23181915	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3471G>A; p.P1157P; 22:23313981-23313981	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1831G>A; p.A611T; 22:23268486-23268486	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.830A>G; p.Q277R; 22:23181790-23181790	skin	malignant_melanoma	Substitution - Missense
c.1314C>T; p.C438C; 22:23253833-23253833	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1692C>A; p.L564L; 22:23261480-23261480	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1314C>T; p.C438C; 22:23253833-23253833	liver	carcinoma	Substitution - coding silent
c.1314C>T; p.C438C; 22:23253833-23253833	liver	carcinoma	Substitution - coding silent
c.171C>T; p.I57I; 22:23181131-23181131	breast	carcinoma	Substitution - coding silent
c.2772G>T; p.K924N; 22:23290403-23290403	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3723C>T; p.S1241S; 22:23314711-23314711	skin	malignant_melanoma	Substitution - coding silent
c.171C>G; p.I57M; 22:23181131-23181131	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.850G>C; p.V284L; 22:23181810-23181810	haematopoietic_and_lymphoid_tissue; soft_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1987C>T; p.H663Y; 22:23273646-23273646	skin	malignant_melanoma	Substitution - Missense
c.3494T>C; p.L1165P; 22:23314004-23314004	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1838C>A; p.A613D; 22:23268493-23268493	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1736A>C; p.D579A; 22:23261524-23261524	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.704C>T; p.S235F; 22:23181664-23181664	skin	malignant_melanoma	Substitution - Missense
c.2083C>T; p.R695*; 22:23273742-23273742	pancreas	carcinoma	Substitution - Nonsense
c.138G>T; p.E46D; 22:23181098-23181098	breast	carcinoma	Substitution - Missense
c.1549C>T; p.L517L; 22:23261037-23261037	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1389G>A; p.S463S; 22:23253908-23253908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3363G>A; p.V1121V; 22:23312927-23312927	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.485G>A; p.R162H; 22:23181445-23181445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3363G>A; p.V1121V; 22:23312927-23312927	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.805C>T; p.P269S; 22:23181765-23181765	skin	malignant_melanoma	Substitution - Missense
c.2538C>T; p.F846F; 22:23288108-23288108	skin	malignant_melanoma	Substitution - coding silent
c.2099C>T; p.T700M; 22:23273758-23273758	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1699C>T; p.R567C; 22:23261487-23261487	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.972C>T; p.C324C; 22:23181932-23181932	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1276G>T; p.A426S; 22:23182236-23182236	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.972C>T; p.C324C; 22:23181932-23181932	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2765G>A; p.G922E; 22:23290396-23290396	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1857C>T; p.S619S; 22:23268512-23268512	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1286C>T; p.S429L; 22:23253805-23253805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1586C>T; p.A529V; 22:23261374-23261374	skin; trunk	malignant_melanoma	Substitution - Missense
c.814C>T; p.P272S; 22:23181774-23181774	skin	malignant_melanoma	Substitution - Missense
c.3183_3184delGA; p.R1064fs*45; 22:23311697-23311698	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2321C>T; p.P774L; 22:23285116-23285116	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3368C>T; p.A1123V; 22:23312932-23312932	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2311G>C; p.E771Q; 22:23285106-23285106	breast	carcinoma	Substitution - Missense
c.2112A>G; p.G704G; 22:23273771-23273771	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3609C>T; p.L1203L; 22:23314597-23314597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2387A>G; p.N796S; 22:23285182-23285182	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.531C>T; p.Y177Y; 22:23181491-23181491	skin; hand	malignant_melanoma	Substitution - coding silent
c.2361G>C; p.L787F; 22:23285156-23285156	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.900G>C; p.Q300H; 22:23181860-23181860	breast	carcinoma	Substitution - Missense
c.77G>A; p.R26H; 22:23181037-23181037	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2981C>T; p.T994M; 22:23295124-23295124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3053C>T; p.T1018I; 22:23309464-23309464	skin	malignant_melanoma	Substitution - Missense
c.648G>A; p.Q216Q; 22:23181608-23181608	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.2175G>C; p.L725L; 22:23284036-23284036	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3505C>T; p.L1169L; 22:23314015-23314015	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.607C>A; p.L203M; 22:23181567-23181567	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3073-8T>C; p.?; 22:23310316-23310316	breast	carcinoma	Unknown
c.3073-8T>C; p.?; 22:23310316-23310316	stomach	carcinoma; adenocarcinoma	Unknown
c.3073-8T>C; p.?; 22:23310316-23310316	oesophagus	carcinoma; adenocarcinoma	Unknown
c.3183-4G>A; p.?; 22:23311693-23311693	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.3073-8T>C; p.?; 22:23310316-23310316	breast	carcinoma	Unknown
c.669delG; p.D225fs*27; 22:23181629-23181629	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2363A>T; p.K788M; 22:23285158-23285158	pancreas	carcinoma	Substitution - Missense
c.3379A>T; p.T1127S; 22:23312943-23312943	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1195G>A; p.V399M; 22:23182155-23182155	prostate	carcinoma	Substitution - Missense
c.3532A>C; p.T1178P; 22:23314042-23314042	breast	carcinoma	Substitution - Missense
c.2180A>G; p.H727R; 22:23284041-23284041	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2036G>A; p.R679H; 22:23273695-23273695	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2898G>A; p.L966L; 22:23295041-23295041	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.543G>C; p.E181D; 22:23181503-23181503	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.399G>T; p.R133S; 22:23181359-23181359	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1902G>A; p.T634T; 22:23271573-23271573	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.102G>T; p.E34D; 22:23181062-23181062	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2526G>A; p.K842K; 22:23287278-23287278	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1715G>A; p.S572N; 22:23261503-23261503	thyroid	other; neoplasm	Substitution - Missense
c.848A>G; p.Y283C; 22:23181808-23181808	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3384G>T; p.L1128L; 22:23312948-23312948	breast	carcinoma	Substitution - coding silent
c.3638G>A; p.R1213Q; 22:23314626-23314626	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2793C>T; p.C931C; 22:23292551-23292551	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1390C>T; p.P464S; 22:23253909-23253909	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3582A>C; p.A1194A; 22:23314570-23314570	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2456C>T; p.S819L; 22:23287208-23287208	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.859A>G; p.M287V; 22:23181819-23181819	skin	malignant_melanoma	Substitution - Missense
c.3722C>T; p.S1241F; 22:23314710-23314710	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3360C>T; p.D1120D; 22:23312924-23312924	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.421G>A; p.E141K; 22:23181381-23181381	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; cortisol_producing	Substitution - Missense
c.421G>A; p.E141K; 22:23181381-23181381	haematopoietic_and_lymphoid_tissue; soft_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.410C>T; p.A137V; 22:23181370-23181370	central_nervous_system; brain	glioma	Substitution - Missense
c.3263T>A; p.I1088N; 22:23311777-23311777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.846C>G; p.I282M; 22:23181806-23181806	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3645C>G; p.S1215S; 22:23314633-23314633	liver	carcinoma	Substitution - coding silent
c.1434C>T; p.V478V; 22:23253953-23253953	skin	malignant_melanoma	Substitution - coding silent
c.3470C>T; p.P1157L; 22:23313980-23313980	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2849A>T; p.Y950F; 22:23292607-23292607	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1231G>A; p.G411R; 22:23182191-23182191	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2877C>T; p.N959N; 22:23292635-23292635	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1603C>T; p.Q535*; 22:23261391-23261391	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3505C>A; p.L1169M; 22:23314015-23314015	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3615G>A; p.T1205T; 22:23314603-23314603	pancreas	carcinoma	Substitution - coding silent
c.3234C>T; p.I1078I; 22:23311748-23311748	skin	malignant_melanoma	Substitution - coding silent
c.2176C>T; p.R726C; 22:23284037-23284037	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2563G>T; p.A855S; 22:23288133-23288133	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.209A>G; p.Y70C; 22:23181169-23181169	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2707+5_2707+6insC; p.?; 22:23289626-23289627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2707+5_2707+6insC; p.?; 22:23289626-23289627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2707+5_2707+6insC; p.?; 22:23289626-23289627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2707+5_2707+6insC; p.?; 22:23289626-23289627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2707+5_2707+6insC; p.?; 22:23289626-23289627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2707+5_2707+6insC; p.?; 22:23289626-23289627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2707+5_2707+6insC; p.?; 22:23289626-23289627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2707+5_2707+6insC; p.?; 22:23289626-23289627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2707+5_2707+6insC; p.?; 22:23289626-23289627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2707+5_2707+6insC; p.?; 22:23289626-23289627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2707+5_2707+6insC; p.?; 22:23289626-23289627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2707+5_2707+6insC; p.?; 22:23289626-23289627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1122G>A; p.S374S; 22:23182082-23182082	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1122G>A; p.S374S; 22:23182082-23182082	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1122G>A; p.S374S; 22:23182082-23182082	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1735G>A; p.D579N; 22:23261523-23261523	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1168A>G; p.K390E; 22:23182128-23182128	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2237+1G>A; p.?; 22:23284099-23284099	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.809C>G; p.P270R; 22:23181769-23181769	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1828C>T; p.Q610*; 22:23268483-23268483	skin	malignant_melanoma	Substitution - Nonsense
c.705C>A; p.S235S; 22:23181665-23181665	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.936C>T; p.P312P; 22:23181896-23181896	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1198T>C; p.S400P; 22:23182158-23182158	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1198T>C; p.S400P; 22:23182158-23182158	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2032C>A; p.L678I; 22:23273691-23273691	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1611G>A; p.V537V; 22:23261399-23261399	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1697C>T; p.P566L; 22:23261485-23261485	skin	malignant_melanoma	Substitution - Missense
c.2688G>A; p.P896P; 22:23289602-23289602	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.924C>T; p.R308R; 22:23181884-23181884	skin	malignant_melanoma	Substitution - coding silent
c.1901C>T; p.T634M; 22:23271572-23271572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3810A>T; p.E1270D; 22:23315516-23315516	skin; extremity	malignant_melanoma	Substitution - Missense
c.3810A>T; p.E1270D; 22:23315516-23315516	skin; extremity	malignant_melanoma	Substitution - Missense
c.2258G>A; p.C753Y; 22:23285053-23285053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1427C>T; p.A476V; 22:23253946-23253946	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.503C>T; p.P168L; 22:23181463-23181463	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]