Entrez Gene

Basic Information
Gene ID	330
Name	BIRC3
Synonymous	baculoviral IAP repeat containing 3;BIRC3;baculoviral IAP repeat containing 3
Definition	IAP homolog C\|IAP-1\|RING finger protein 49\|TNFR2-TRAF signaling complex protein\|TNFR2-TRAF-signaling complex protein 1\|apoptosis inhibitor 2\|baculoviral IAP repeat-containing 3\|baculoviral IAP repeat-containing protein 3\|inhibitor of apoptosis protein 1\|m
Position	11q22
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.1763G>T; p.C588F; 11:102337050-102337050	breast	carcinoma	Substitution - Missense
c.565C>G; p.L189V; 11:102325074-102325074	breast	carcinoma	Substitution - Missense
c.1508G>A; p.G503E; 11:102336149-102336149	breast	carcinoma	Substitution - Missense
c.1536_1537delCT; p.L514fs*4; 11:102336177-102336178	breast	carcinoma	Deletion - Frameshift
c.685T>G; p.F229V; 11:102325194-102325194	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.169T>C; p.Y57H; 11:102324678-102324678	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.217C>T; p.L73L; 11:102324726-102324726	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1494G>A; p.T498T; 11:102336135-102336135	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1324+2T>C; p.?; 11:102331243-102331243	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1060G>T; p.D354Y; 11:102328924-102328924	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1366C>A; p.Q456K; 11:102336007-102336007	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.303C>T; p.S101S; 11:102324812-102324812	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1330T>G; p.L444V; 11:102335971-102335971	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.505G>A; p.E169K; 11:102325014-102325014	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1660G>T; p.E554*; 11:102336947-102336947	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.1657_1666del10; p.E553fs*12; 11:102336944-102336953	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1742G>A; p.C581Y; 11:102337029-102337029	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1672A>G; p.K558E; 11:102336959-102336959	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1658_1661delAAGA; p.R555fs*12; 11:102336945-102336948	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1609_1609delG; p.E537fs*31; 11:102336789-102336789	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1654C>T; p.Q552*; 11:102336941-102336941	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.1654C>T; p.Q552*; 11:102336941-102336941	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.1285_1286insG; p.E429fs*9; 11:102331202-102331203	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Insertion - Frameshift
c.1200G>A; p.Q400Q; 11:102331117-102331117	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1200G>A; p.Q400Q; 11:102331117-102331117	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1200G>A; p.Q400Q; 11:102331117-102331117	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1284_1288delGGAAG; p.E429fs*7; 11:102331201-102331205	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1762T>A; p.C588S; 11:102337049-102337049	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.359C>T; p.S120F; 11:102324868-102324868	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1663_1666delAGAA; p.R555fs*12; 11:102336950-102336953	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1663_1666delAGAA; p.R555fs*12; 11:102336950-102336953	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1281_1285delAAGGG; p.E429fs*7; 11:102331198-102331202	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.1640_1640delA; p.Q547fs*21; 11:102336927-102336927	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - Frameshift
c.1281_1285delAAGGG; p.E429fs*7; 11:102331198-102331202	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1708_1710delATT; p.I570del; 11:102336995-102336997	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - In frame
c.1796_1807del12; p.R600_L603del; 11:102337083-102337094	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - In frame
c.1282_1282delA; p.R428fs*19; 11:102331199-102331199	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1282_1282delA; p.R428fs*19; 11:102331199-102331199	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1281_1290del10; p.I427fs*17; 11:102331198-102331207	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1281_1290del10; p.I427fs*17; 11:102331198-102331207	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.956G>A; p.C319Y; 11:102328054-102328054	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.1756A>T; p.R586*; 11:102337043-102337043	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.1279_1280insA; p.I427fs*11; 11:102331196-102331197	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Insertion - Frameshift
c.1279_1280insA; p.I427fs*11; 11:102331196-102331197	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Insertion - Frameshift
c.1295_1296insG; p.E433fs*5; 11:102331212-102331213	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Insertion - Frameshift
c.1538_1540CTC>T; p.S513fs*5; 11:102336179-102336181	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Complex - frameshift
c.1085_1085delT; p.I362fs*15; 11:102331002-102331002	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1633G>T; p.E545*; 11:102336920-102336920	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.82T>C; p.C28R; 11:102324591-102324591	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1599T>G; p.Y533*; 11:102336779-102336779	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.1586A>T; p.Q529L; 11:102336766-102336766	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1666_1666delA; p.T556fs*12; 11:102336953-102336953	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1746_1799del54; p.P583_R600del; 11:102337033-102337086	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - In frame
c.1638_1639insA; p.Q547fs*12; 11:102336925-102336926	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Insertion - Frameshift
c.1638_1639insA; p.Q547fs*12; 11:102336925-102336926	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Insertion - Frameshift
c.1638_1639insA; p.Q547fs*12; 11:102336925-102336926	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Insertion - Frameshift
c.1162A>G; p.M388V; 11:102331079-102331079	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1162A>G; p.M388V; 11:102331079-102331079	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1350_1351insT; p.R451fs*1; 11:102335991-102335992	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Insertion - Frameshift
c.1307_1307delC; p.T436fs*11; 11:102331224-102331224	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - Frameshift
c.1313_1314delAA; p.K439fs*4; 11:102331230-102331231	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1270G>T; p.E424*; 11:102331187-102331187	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.1270G>T; p.E424*; 11:102331187-102331187	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.1270G>T; p.E424*; 11:102331187-102331187	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.1673_1674delAA; p.K558fs*34; 11:102336960-102336961	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1718G>A; p.G573D; 11:102337005-102337005	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1636G>T; p.E546*; 11:102336923-102336923	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.1679G>C; p.C560S; 11:102336966-102336966	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1328_1331delATTT; p.L444fs*2; 11:102335969-102335972	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - Frameshift
c.1328_1331delATTT; p.L444fs*2; 11:102335969-102335972	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - Frameshift
c.1328_1331delATTT; p.L444fs*2; 11:102335969-102335972	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - Frameshift
c.1643_1643delT; p.L548fs*20; 11:102336930-102336930	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1643_1643delT; p.L548fs*20; 11:102336930-102336930	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1385T>C; p.I462T; 11:102336026-102336026	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1690G>T; p.E564*; 11:102336977-102336977	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.1710_1712delTCC; p.P571del; 11:102336997-102336999	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - In frame
c.1690G>T; p.E564*; 11:102336977-102336977	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.1267_1268insCAGA; p.E424fs*4; 11:102331184-102331185	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Insertion - Frameshift
c.1692_1692delA; p.V565fs*3; 11:102336979-102336979	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1594_1598delAAATA; p.K532fs*25; 11:102336774-102336778	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1622-25_1622-5del; p.?; 11:102336884-102336904	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Unknown
c.1282_1285delAGGG; p.R428fs*18; 11:102331199-102331202	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.166T>A; p.Y56N; 11:102324675-102324675	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1801A>T; p.T601S; 11:102337088-102337088	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1302_1303insG; p.A435fs*3; 11:102331219-102331220	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Insertion - Frameshift
c.1754T>A; p.L585*; 11:102337041-102337041	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.1283_1287delGGGAA; p.E429fs*7; 11:102331200-102331204	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.953G>C; p.R318T; 11:102325565-102325565	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1318G>T; p.E440*; 11:102331235-102331235	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.1101_1132del32; p.E368fs*5; 11:102331018-102331049	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1772G>A; p.C591Y; 11:102337059-102337059	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1101_1132del32; p.E368fs*5; 11:102331018-102331049	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1747_1780del34; p.P583fs*12; 11:102337034-102337067	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1639_1639delC; p.Q547fs*21; 11:102336926-102336926	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1639_1639delC; p.Q547fs*21; 11:102336926-102336926	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - Frameshift
c.1639_1639delC; p.Q547fs*21; 11:102336926-102336926	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.1639_1639delC; p.Q547fs*21; 11:102336926-102336926	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.1639_1639delC; p.Q547fs*21; 11:102336926-102336926	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1639_1639delC; p.Q547fs*21; 11:102336926-102336926	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1639_1639delC; p.Q547fs*21; 11:102336926-102336926	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1639_1639delC; p.Q547fs*21; 11:102336926-102336926	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - Frameshift
c.1639_1639delC; p.Q547fs*21; 11:102336926-102336926	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1659_1662delAGAA; p.R555fs*12; 11:102336946-102336949	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1322C>G; p.S441*; 11:102331239-102331239	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.1322C>G; p.S441*; 11:102331239-102331239	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.1317_1318AG>T; p.K439fs*8; 11:102331234-102331235	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Complex - frameshift
c.1322C>G; p.S441*; 11:102331239-102331239	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.1598_1615>GTGGGAAT; p.Y533fs*32; 11:102336778-102336795	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Complex - frameshift
c.1641_1641delA; p.Q547fs*21; 11:102336928-102336928	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.1319_1322delAATC; p.S441fs*5; 11:102331236-102331239	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - Frameshift
c.1798C>G; p.R600G; 11:102337085-102337085	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.650C>T; p.P217L; 11:102325159-102325159	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1798C>G; p.R600G; 11:102337085-102337085	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1796T>G; p.V599G; 11:102337083-102337083	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.873A>C; p.K291N; 11:102325485-102325485	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1442T>G; p.V481G; 11:102336083-102336083	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1364T>G; p.F455C; 11:102336005-102336005	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.163T>C; p.F55L; 11:102324672-102324672	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1327G>A; p.D443N; 11:102335968-102335968	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1332delA; p.L444fs*3; 11:102335973-102335973	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.367T>C; p.S123P; 11:102324876-102324876	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.367T>C; p.S123P; 11:102324876-102324876	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.367T>C; p.S123P; 11:102324876-102324876	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1608A>G; p.T536T; 11:102336788-102336788	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.368C>A; p.S123*; 11:102324877-102324877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.742T>C; p.S248P; 11:102325251-102325251	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.832A>C; p.S278R; 11:102325341-102325341	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1102G>T; p.E368*; 11:102331019-102331019	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1414G>A; p.G472R; 11:102336055-102336055	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.357delT; p.S120fs*27; 11:102324866-102324866	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1343G>A; p.R448Q; 11:102335984-102335984	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.601G>T; p.D201Y; 11:102325110-102325110	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.601G>T; p.D201Y; 11:102325110-102325110	large_intestine; colon	carcinoma	Substitution - Missense
c.889G>C; p.G297R; 11:102325501-102325501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.20G>T; p.S7I; 11:102324529-102324529	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.368C>T; p.S123L; 11:102324877-102324877	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.368C>T; p.S123L; 11:102324877-102324877	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.733T>A; p.Y245N; 11:102325242-102325242	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.515G>T; p.R172I; 11:102325024-102325024	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1463C>T; p.T488M; 11:102336104-102336104	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.889G>T; p.G297C; 11:102325501-102325501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1690G>T; p.E564*; 11:102336977-102336977	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.912_913delTG; p.G305fs*2; 11:102325524-102325525	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1536_1537delCT; p.L514fs*4; 11:102336177-102336178	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.505G>A; p.E169K; 11:102325014-102325014	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.343T>G; p.S115A; 11:102324852-102324852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1622-1G>T; p.?; 11:102336908-102336908	liver	carcinoma	Unknown
c.1642T>C; p.L548L; 11:102336929-102336929	liver	carcinoma	Substitution - coding silent
c.1621+3A>G; p.?; 11:102336804-102336804	liver	carcinoma	Unknown
c.1621+3A>G; p.?; 11:102336804-102336804	liver	carcinoma	Unknown
c.1102G>A; p.E368K; 11:102331019-102331019	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1438G>A; p.D480N; 11:102336079-102336079	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.710A>T; p.N237I; 11:102325219-102325219	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1255G>C; p.D419H; 11:102331172-102331172	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1646G>A; p.R549Q; 11:102336933-102336933	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.92A>C; p.Y31S; 11:102324601-102324601	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.914G>T; p.G305V; 11:102325526-102325526	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1198C>T; p.Q400*; 11:102331115-102331115	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.606A>G; p.R202R; 11:102325115-102325115	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.743C>G; p.S248C; 11:102325252-102325252	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1607C>G; p.T536R; 11:102336787-102336787	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1632G>T; p.V544V; 11:102336919-102336919	ovary	other; neoplasm	Substitution - coding silent
c.369A>G; p.S123S; 11:102324878-102324878	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.33A>C; p.S11S; 11:102324542-102324542	pancreas	carcinoma	Substitution - coding silent
c.1104A>G; p.E368E; 11:102331021-102331021	skin	malignant_melanoma	Substitution - coding silent
c.771C>T; p.A257A; 11:102325280-102325280	skin	malignant_melanoma	Substitution - coding silent
c.1093G>A; p.E365K; 11:102331010-102331010	skin	malignant_melanoma	Substitution - Missense
c.697C>A; p.P233T; 11:102325206-102325206	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1609G>A; p.E537K; 11:102336789-102336789	skin	malignant_melanoma	Substitution - Missense
c.139G>A; p.E47K; 11:102324648-102324648	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1775G>A; p.R592K; 11:102337062-102337062	skin	malignant_melanoma	Substitution - Missense
c.833G>A; p.S278N; 11:102325342-102325342	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1125C>T; p.I375I; 11:102331042-102331042	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.425C>T; p.P142L; 11:102324934-102324934	skin	malignant_melanoma	Substitution - Missense
c.993C>T; p.I331I; 11:102328091-102328091	skin	malignant_melanoma	Substitution - coding silent
c.574G>A; p.A192T; 11:102325083-102325083	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.505G>A; p.E169K; 11:102325014-102325014	skin	malignant_melanoma	Substitution - Missense
c.505G>A; p.E169K; 11:102325014-102325014	skin	malignant_melanoma	Substitution - Missense
c.1711C>T; p.P571S; 11:102336998-102336998	skin	malignant_melanoma	Substitution - Missense
c.118C>T; p.P40S; 11:102324627-102324627	skin	malignant_melanoma	Substitution - Missense
c.890G>A; p.G297D; 11:102325502-102325502	skin	malignant_melanoma	Substitution - Missense
c.1462A>C; p.T488P; 11:102336103-102336103	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1462A>C; p.T488P; 11:102336103-102336103	stomach	adenocarcinoma	Substitution - Missense
c.1571A>C; p.H524P; 11:102336212-102336212	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.99G>C; p.M33I; 11:102324608-102324608	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.772C>T; p.R258C; 11:102325281-102325281	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.303C>T; p.S101S; 11:102324812-102324812	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.352A>T; p.T118S; 11:102324861-102324861	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.889G>A; p.G297S; 11:102325501-102325501	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.982_1002del21; p.E329_Q335delEFIRQVQ; 11:102328080-102328100	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Deletion - In frame
c.428C>T; p.S143L; 11:102324937-102324937	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1574T>G; p.L525*; 11:102336215-102336215	thyroid	other; neoplasm	Substitution - Nonsense
c.564delT; p.L189fs*9; 11:102325073-102325073	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1038A>G; p.L346L; 11:102328902-102328902	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1038A>G; p.L346L; 11:102328902-102328902	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.73G>T; p.D25Y; 11:102324582-102324582	urinary_tract; bladder	carcinoma	Substitution - Missense
c.73G>T; p.D25Y; 11:102324582-102324582	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.446G>C; p.R149T; 11:102324955-102324955	urinary_tract; bladder	carcinoma	Substitution - Missense

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COSMIC confirmed somatic mutation [Top]

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