lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	1378
Symbol	CR1
Synonymous	C3BR\|C4BR\|CD35\|KN
Full name	complement component (3b/4b) receptor 1 (Knops blood group)
Gene description	C3-binding protein\|C3b/C4b receptor\|CD35 antigen\|Knops blood group antigen\|complement receptor type 1
Cytoband	1q32
Gene type	protein-coding
Synonymous	MIM:120620; HGNC:HGNC:2334; Ensembl:ENSG00000203710; HPRD:00398; Vega:OTTHUMG00000036311

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.5045G>A; p.S1682N; 1:207611776-207611776	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3973C>T; p.P1325S; 1:207584669-207584669	skin	malignant_melanoma	Substitution - Missense
c.41C>T; p.P14L; 1:207496308-207496308	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5077T>A; p.C1693S; 1:207611808-207611808	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5082G>A; p.T1694T; 1:207611813-207611813	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.59C>T; p.P20L; 1:207496326-207496326	skin	malignant_melanoma	Substitution - Missense
c.3710C>T; p.S1237F; 1:207580363-207580363	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2272C>T; p.R758C; 1:207563899-207563899	breast	carcinoma	Substitution - Missense
c.622G>T; p.V208L; 1:207523745-207523745	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.301C>T; p.R101C; 1:207506083-207506083	central_nervous_system; brain	glioma	Substitution - Missense
c.4174C>T; p.R1392C; 1:207584870-207584870	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4174C>T; p.R1392C; 1:207584870-207584870	skin	malignant_melanoma	Substitution - Missense
c.4174C>T; p.R1392C; 1:207584870-207584870	skin	malignant_melanoma	Substitution - Missense
c.3783C>A; p.F1261L; 1:207580530-207580530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4174C>T; p.R1392C; 1:207584870-207584870	skin	malignant_melanoma	Substitution - Missense
c.5185C>A; p.L1729I; 1:207612001-207612001	breast	carcinoma	Substitution - Missense
c.301C>T; p.R101C; 1:207506083-207506083	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3783C>A; p.F1261L; 1:207580530-207580530	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5861C>T; p.A1954V; 1:207620024-207620024	central_nervous_system; brain	glioma	Substitution - Missense
c.4174C>T; p.R1392C; 1:207584870-207584870	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5006T>C; p.F1669S; 1:207611737-207611737	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3960T>G; p.F1320L; 1:207584656-207584656	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3610C>A; p.L1204M; 1:207580263-207580263	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2398G>T; p.A800S; 1:207564025-207564025	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4175G>A; p.R1392H; 1:207584871-207584871	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4175G>A; p.R1392H; 1:207584871-207584871	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4175G>A; p.R1392H; 1:207584871-207584871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4175G>A; p.R1392H; 1:207584871-207584871	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4861C>T; p.P1621S; 1:207609604-207609604	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4067G>A; p.R1356K; 1:207584763-207584763	oesophagus	carcinoma	Substitution - Missense
c.32C>T; p.P11L; 1:207496299-207496299	skin	malignant_melanoma	Substitution - Missense
c.4627G>C; p.V1543L; 1:207609370-207609370	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.5569G>C; p.G1857R; 1:207618100-207618100	skin	malignant_melanoma	Substitution - Missense
c.3310G>T; p.V1104L; 1:207577927-207577927	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3310G>T; p.V1104L; 1:207577927-207577927	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.5653G>A; p.G1885R; 1:207618184-207618184	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.220C>A; p.R74S; 1:207506002-207506002	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.295T>G; p.C99G; 1:207506077-207506077	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3843G>T; p.K1281N; 1:207580590-207580590	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5480C>G; p.P1827R; 1:207616743-207616743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5480C>G; p.P1827R; 1:207616743-207616743	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4811G>A; p.G1604E; 1:207609554-207609554	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3759T>C; p.C1253C; 1:207580412-207580412	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5353C>T; p.H1785Y; 1:207616616-207616616	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4027G>A; p.G1343R; 1:207584723-207584723	skin	malignant_melanoma	Substitution - Missense
c.5847G>A; p.W1949*; 1:207620010-207620010	skin; trunk	malignant_melanoma	Substitution - Nonsense
c.2547T>C; p.Y849Y; 1:207565868-207565868	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2607C>A; p.I869I; 1:207567828-207567828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4844T>C; p.I1615T; 1:207609587-207609587	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5733C>A; p.F1911L; 1:207619896-207619896	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.5772_5773insA; p.V1927fs*13; 1:207619935-207619936	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.139G>T; p.E47*; 1:207505921-207505921	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2803C>T; p.P935S; 1:207568024-207568024	skin	malignant_melanoma	Substitution - Missense
c.4280G>A; p.R1427H; 1:207587485-207587485	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5363C>G; p.T1788S; 1:207616626-207616626	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.487+2T>A; p.?; 1:207511656-207511656	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.5084C>A; p.P1695H; 1:207611815-207611815	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4307C>G; p.S1436C; 1:207587512-207587512	breast	carcinoma	Substitution - Missense
c.3746A>C; p.E1249A; 1:207580399-207580399	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.42G>C; p.P14P; 1:207496309-207496309	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.5081C>T; p.T1694M; 1:207611812-207611812	central_nervous_system; brain	glioma	Substitution - Missense
c.5081C>T; p.T1694M; 1:207611812-207611812	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4403T>C; p.V1468A; 1:207588717-207588717	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.5263T>G; p.L1755V; 1:207614441-207614441	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5274G>A; p.M1758I; 1:207614452-207614452	skin	malignant_melanoma	Substitution - Missense
c.2465T>G; p.F822C; 1:207564183-207564183	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4132G>A; p.G1378R; 1:207584828-207584828	skin	malignant_melanoma	Substitution - Missense
c.3581_3582CC>TT; p.S1194F; 1:207578198-207578199	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3875T>C; p.L1292S; 1:207581926-207581926	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3187C>A; p.R1063R; 1:207575680-207575680	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.5381C>T; p.P1794L; 1:207616644-207616644	skin	malignant_melanoma	Substitution - Missense
c.4120C>T; p.P1374S; 1:207584816-207584816	skin	malignant_melanoma	Substitution - Missense
c.5975C>A; p.S1992Y; 1:207623041-207623041	breast	carcinoma	Substitution - Missense
c.241_242CC>GA; p.P81E; 1:207506023-207506024	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2673C>T; p.P891P; 1:207567894-207567894	skin	malignant_melanoma	Substitution - coding silent
c.4083C>A; p.N1361K; 1:207584779-207584779	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.531C>T; p.F177F; 1:207523654-207523654	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5155C>T; p.P1719S; 1:207611971-207611971	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5155C>T; p.P1719S; 1:207611971-207611971	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4958C>A; p.P1653H; 1:207611689-207611689	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5362A>G; p.T1788A; 1:207616625-207616625	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5700G>A; p.L1900L; 1:207618231-207618231	breast	carcinoma	Substitution - coding silent
c.5779G>T; p.V1927L; 1:207619942-207619942	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.1089C>T; p.G363G; 1:207527046-207527046	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3669C>A; p.F1223L; 1:207580322-207580322	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3107G>A; p.R1036Q; 1:207575600-207575600	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3586+7C>G; p.?; 1:207578210-207578210	pancreas	carcinoma	Unknown
c.2365C>T; p.R789C; 1:207563992-207563992	skin	malignant_melanoma	Substitution - Missense
c.4734G>A; p.W1578*; 1:207609477-207609477	skin	malignant_melanoma	Substitution - Nonsense
c.4472T>G; p.I1491S; 1:207607262-207607262	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.367_368delTT; p.F123fs*5; 1:207506779-207506780	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.5372G>A; p.G1791E; 1:207616635-207616635	skin	malignant_melanoma	Substitution - Missense
c.90T>C; p.V30V; 1:207496357-207496357	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1289G>A; p.G430E; 1:207532216-207532216	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.301+1G>A; p.?; 1:207506084-207506084	stomach	carcinoma; adenocarcinoma	Unknown
c.2292C>A; p.D764E; 1:207563919-207563919	skin	malignant_melanoma	Substitution - Missense
c.5515C>T; p.R1839C; 1:207616778-207616778	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3167C>T; p.T1056M; 1:207575660-207575660	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4247T>C; p.F1416S; 1:207587452-207587452	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3167C>T; p.T1056M; 1:207575660-207575660	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2671C>T; p.P891S; 1:207567892-207567892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.741A>G; p.I247M; 1:207523864-207523864	breast	carcinoma	Substitution - Missense
c.2673C>A; p.P891P; 1:207567894-207567894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.328C>T; p.P110S; 1:207506740-207506740	skin	malignant_melanoma	Substitution - Missense
c.3281G>A; p.R1094H; 1:207577898-207577898	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2673C>A; p.P891P; 1:207567894-207567894	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2603-1G>C; p.?; 1:207567823-207567823	breast	carcinoma	Unknown
c.3920G>T; p.S1307I; 1:207581971-207581971	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3281G>A; p.R1094H; 1:207577898-207577898	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.27G>A; p.P9P; 1:207496294-207496294	breast	carcinoma	Substitution - coding silent
c.2295C>A; p.N765K; 1:207563922-207563922	skin	malignant_melanoma	Substitution - Missense
c.3661G>A; p.E1221K; 1:207580314-207580314	skin	malignant_melanoma	Substitution - Missense
c.3562C>T; p.P1188S; 1:207578179-207578179	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5512C>T; p.P1838S; 1:207616775-207616775	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3559G>C; p.E1187Q; 1:207578176-207578176	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.852C>A; p.N284K; 1:207523975-207523975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3102-10T>C; p.?; 1:207575585-207575585	liver	carcinoma	Unknown
c.45G>A; p.P15P; 1:207496312-207496312	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1544T>C; p.I515T; 1:207533481-207533481	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3208C>A; p.P1070T; 1:207577825-207577825	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1544T>C; p.I515T; 1:207533481-207533481	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3650C>T; p.S1217L; 1:207580303-207580303	breast	carcinoma	Substitution - Missense
c.1544T>C; p.I515T; 1:207533481-207533481	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3159T>G; p.H1053Q; 1:207575652-207575652	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.5970C>T; p.F1990F; 1:207623036-207623036	skin	malignant_melanoma	Substitution - coding silent
c.2566G>A; p.E856K; 1:207565887-207565887	skin	malignant_melanoma	Substitution - Missense
c.3249G>T; p.E1083D; 1:207577866-207577866	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5568C>T; p.N1856N; 1:207618099-207618099	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3703G>T; p.A1235S; 1:207580356-207580356	prostate	carcinoma	Substitution - Missense
c.4223C>T; p.T1408M; 1:207587428-207587428	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.402-1G>C; p.?; 1:207511568-207511568	breast	carcinoma	Unknown
c.6056G>A; p.G2019E; 1:207630570-207630570	skin	malignant_melanoma	Substitution - Missense
c.4864_4865GG>AA; p.G1622K; 1:207609607-207609608	skin	malignant_melanoma	Substitution - Missense
c.5131T>A; p.C1711S; 1:207611947-207611947	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4864_4865GG>AA; p.G1622K; 1:207609607-207609608	skin	malignant_melanoma	Substitution - Missense
c.903A>G; p.P301P; 1:207526769-207526769	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.236G>T; p.G79V; 1:207506018-207506018	oesophagus	carcinoma	Substitution - Missense
c.884G>A; p.R295K; 1:207524007-207524007	skin	malignant_melanoma	Substitution - Missense
c.758G>T; p.R253I; 1:207523881-207523881	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3256C>T; p.H1086Y; 1:207577873-207577873	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4028G>A; p.G1343E; 1:207584724-207584724	skin	malignant_melanoma	Substitution - Missense
c.261delA; p.N89fs*23; 1:207506043-207506043	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.829C>T; p.R277C; 1:207523952-207523952	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2340T>C; p.Y780Y; 1:207563967-207563967	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.549G>A; p.E183E; 1:207523672-207523672	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4987C>T; p.L1663L; 1:207611718-207611718	skin	malignant_melanoma	Substitution - coding silent
c.3849C>T; p.S1283S; 1:207580596-207580596	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6052C>G; p.Q2018E; 1:207630566-207630566	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1716G>T; p.Q572H; 1:207534261-207534261	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3940C>A; p.P1314T; 1:207581991-207581991	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3684T>A; p.P1228P; 1:207580337-207580337	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5862G>A; p.A1954A; 1:207620025-207620025	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.954T>A; p.P318P; 1:207526820-207526820	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4530G>T; p.K1510N; 1:207607320-207607320	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4465C>T; p.R1489*; 1:207607255-207607255	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3357C>T; p.D1119D; 1:207577974-207577974	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4921C>T; p.P1641S; 1:207609664-207609664	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2632C>T; p.P878S; 1:207567853-207567853	skin	malignant_melanoma	Substitution - Missense
c.1006G>A; p.A336T; 1:207526872-207526872	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3103C>T; p.H1035Y; 1:207575596-207575596	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5311+1G>A; p.?; 1:207614490-207614490	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.4720C>A; p.Q1574K; 1:207609463-207609463	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.2748C>A; p.S916R; 1:207567969-207567969	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2617A>G; p.S873G; 1:207567838-207567838	prostate	carcinoma	Substitution - Missense
c.2630T>C; p.I877T; 1:207567851-207567851	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3557G>T; p.W1186L; 1:207578174-207578174	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3623A>G; p.H1208R; 1:207580276-207580276	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3623A>G; p.H1208R; 1:207580276-207580276	kidney	other; neoplasm	Substitution - Missense
c.3109C>T; p.L1037F; 1:207575602-207575602	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.243G>A; p.P81P; 1:207506025-207506025	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2311G>A; p.E771K; 1:207563938-207563938	skin	malignant_melanoma	Substitution - Missense
c.6074C>T; p.P2025L; 1:207630588-207630588	skin	malignant_melanoma	Substitution - Missense
c.151T>C; p.F51L; 1:207505933-207505933	kidney	other; neoplasm	Substitution - Missense
c.2592A>G; p.P864P; 1:207565913-207565913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.457A>G; p.I153V; 1:207511624-207511624	bone; humerus	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4864G>A; p.G1622R; 1:207609607-207609607	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.377A>C; p.Q126P; 1:207506789-207506789	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2696C>A; p.T899K; 1:207567917-207567917	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2332C>T; p.P778S; 1:207563959-207563959	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2332C>T; p.P778S; 1:207563959-207563959	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3596C>A; p.P1199Q; 1:207580249-207580249	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5225+3G>A; p.?; 1:207612044-207612044	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.5217C>T; p.C1739C; 1:207612033-207612033	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2623C>T; p.P875S; 1:207567844-207567844	skin	malignant_melanoma	Substitution - Missense
c.611T>G; p.V204G; 1:207523734-207523734	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.5902C>T; p.R1968C; 1:207620065-207620065	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2701G>T; p.D901Y; 1:207567922-207567922	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5342T>C; p.L1781P; 1:207616605-207616605	skin	malignant_melanoma	Substitution - Missense
c.5209T>C; p.F1737L; 1:207612025-207612025	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5602C>A; p.L1868I; 1:207618133-207618133	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3952C>T; p.H1318Y; 1:207582003-207582003	pancreas	carcinoma	Substitution - Missense
c.4256G>T; p.G1419V; 1:207587461-207587461	prostate	carcinoma	Substitution - Missense
c.5757G>A; p.S1919S; 1:207619920-207619920	central_nervous_system; brain	glioma	Substitution - coding silent
c.5433G>A; p.M1811I; 1:207616696-207616696	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.486C>G; p.D162E; 1:207511653-207511653	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5926+6T>G; p.?; 1:207622002-207622002	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2651G>A; p.G884E; 1:207567872-207567872	skin	malignant_melanoma	Substitution - Missense
c.3066G>C; p.Q1022H; 1:207569911-207569911	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.224C>A; p.P75H; 1:207506006-207506006	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.220C>T; p.R74C; 1:207506002-207506002	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2723C>T; p.T908M; 1:207567944-207567944	skin	malignant_melanoma	Substitution - Missense
c.5104G>T; p.E1702*; 1:207611835-207611835	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5395A>G; p.I1799V; 1:207616658-207616658	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5395A>G; p.I1799V; 1:207616658-207616658	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.192C>A; p.P64P; 1:207505974-207505974	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.192C>A; p.P64P; 1:207505974-207505974	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.5395A>G; p.I1799V; 1:207616658-207616658	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3168G>A; p.T1056T; 1:207575661-207575661	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3168G>A; p.T1056T; 1:207575661-207575661	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.655G>A; p.D219N; 1:207523778-207523778	breast	carcinoma	Substitution - Missense
c.5761G>A; p.E1921K; 1:207619924-207619924	breast	carcinoma	Substitution - Missense
c.958C>A; p.Q320K; 1:207526824-207526824	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.958C>T; p.Q320*; 1:207526824-207526824	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.5066C>T; p.A1689V; 1:207611797-207611797	urinary_tract; bladder	carcinoma	Substitution - Missense
c.956G>A; p.G319E; 1:207526822-207526822	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5465G>A; p.R1822H; 1:207616728-207616728	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.934G>A; p.D312N; 1:207526800-207526800	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5330C>T; p.P1777L; 1:207616593-207616593	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3302G>C; p.G1101A; 1:207577919-207577919	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4169C>T; p.S1390F; 1:207584865-207584865	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4969C>A; p.L1657M; 1:207611700-207611700	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4169C>T; p.S1390F; 1:207584865-207584865	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3806G>A; p.R1269H; 1:207580553-207580553	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2128G>A; p.E710K; 1:207542472-207542472	urinary_tract; bladder	carcinoma	Substitution - Missense
c.371G>T; p.G124V; 1:207506783-207506783	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4127G>A; p.G1376E; 1:207584823-207584823	skin	malignant_melanoma	Substitution - Missense
c.4886A>C; p.H1629P; 1:207609629-207609629	skin	malignant_melanoma	Substitution - Missense
c.3280C>A; p.R1094S; 1:207577897-207577897	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.505delC; p.T171fs*21; 1:207523628-207523628	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4460G>A; p.G1487E; 1:207588774-207588774	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5941A>G; p.T1981A; 1:207623007-207623007	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.139G>A; p.E47K; 1:207505921-207505921	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5247T>C; p.S1749S; 1:207614425-207614425	skin	malignant_melanoma	Substitution - coding silent
c.5516G>T; p.R1839L; 1:207616779-207616779	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2395G>A; p.A799T; 1:207564022-207564022	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5055C>A; p.L1685L; 1:207611786-207611786	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.556C>T; p.H186Y; 1:207523679-207523679	skin	malignant_melanoma	Substitution - Missense
c.3854T>C; p.V1285A; 1:207580601-207580601	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3891T>C; p.V1297V; 1:207581942-207581942	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5323C>A; p.P1775T; 1:207616586-207616586	pancreas	carcinoma	Substitution - Missense
c.985G>A; p.G329S; 1:207526851-207526851	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5308G>T; p.E1770*; 1:207614486-207614486	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5308G>T; p.E1770*; 1:207614486-207614486	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5308G>T; p.E1770*; 1:207614486-207614486	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5230C>T; p.R1744*; 1:207614408-207614408	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Nonsense
c.5308G>T; p.E1770*; 1:207614486-207614486	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5308G>T; p.E1770*; 1:207614486-207614486	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5230C>T; p.R1744*; 1:207614408-207614408	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5230C>T; p.R1744*; 1:207614408-207614408	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.5230C>T; p.R1744*; 1:207614408-207614408	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5230C>T; p.R1744*; 1:207614408-207614408	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.5230C>T; p.R1744*; 1:207614408-207614408	central_nervous_system; brain	glioma	Substitution - Nonsense
c.5230C>T; p.R1744*; 1:207614408-207614408	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5230C>T; p.R1744*; 1:207614408-207614408	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.5308G>T; p.E1770*; 1:207614486-207614486	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5545C>T; p.P1849S; 1:207618076-207618076	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5230C>T; p.R1744*; 1:207614408-207614408	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5457C>T; p.S1819S; 1:207616720-207616720	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5308G>T; p.E1770*; 1:207614486-207614486	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5230C>T; p.R1744*; 1:207614408-207614408	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5230C>T; p.R1744*; 1:207614408-207614408	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.5230C>T; p.R1744*; 1:207614408-207614408	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5308G>T; p.E1770*; 1:207614486-207614486	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5230C>T; p.R1744*; 1:207614408-207614408	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5308G>T; p.E1770*; 1:207614486-207614486	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4105C>A; p.R1369S; 1:207584801-207584801	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2667C>A; p.V889V; 1:207567888-207567888	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3683C>T; p.P1228L; 1:207580336-207580336	skin	malignant_melanoma	Substitution - Missense
c.686delC; p.P230fs*29; 1:207523809-207523809	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.5235A>C; p.L1745F; 1:207614413-207614413	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.5129C>T; p.S1710F; 1:207611945-207611945	skin	malignant_melanoma	Substitution - Missense
c.3429G>T; p.V1143V; 1:207578046-207578046	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5023G>T; p.V1675L; 1:207611754-207611754	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.269C>T; p.S90L; 1:207506051-207506051	skin	malignant_melanoma	Substitution - Missense
c.3669C>T; p.F1223F; 1:207580322-207580322	skin	malignant_melanoma	Substitution - coding silent
c.488G>A; p.R163K; 1:207523611-207523611	skin	malignant_melanoma	Substitution - Missense
c.3385G>A; p.A1129T; 1:207578002-207578002	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.269C>T; p.S90L; 1:207506051-207506051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2701G>A; p.D901N; 1:207567922-207567922	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2701G>A; p.D901N; 1:207567922-207567922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3336C>A; p.S1112S; 1:207577953-207577953	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4824C>A; p.F1608L; 1:207609567-207609567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2710C>T; p.P904S; 1:207567931-207567931	skin	malignant_melanoma	Substitution - Missense
c.4824C>A; p.F1608L; 1:207609567-207609567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2710C>T; p.P904S; 1:207567931-207567931	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.79C>T; p.L27L; 1:207496346-207496346	skin	malignant_melanoma	Substitution - coding silent
c.122-2A>T; p.?; 1:207505902-207505902	lung	carcinoma; adenocarcinoma	Unknown
c.2310G>A; p.Q770Q; 1:207563937-207563937	skin	malignant_melanoma	Substitution - coding silent
c.3579C>A; p.C1193*; 1:207578196-207578196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4777G>A; p.A1593T; 1:207609520-207609520	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.6057A>C; p.G2019G; 1:207630571-207630571	skin	malignant_melanoma	Substitution - coding silent
c.933G>A; p.R311R; 1:207526799-207526799	skin	malignant_melanoma	Substitution - coding silent
c.5409C>T; p.C1803C; 1:207616672-207616672	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5870G>A; p.R1957K; 1:207620033-207620033	skin	malignant_melanoma	Substitution - Missense
c.4162G>A; p.E1388K; 1:207584858-207584858	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2596T>C; p.C866R; 1:207565917-207565917	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2596T>C; p.C866R; 1:207565917-207565917	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.783T>G; p.V261V; 1:207523906-207523906	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4834A>G; p.T1612A; 1:207609577-207609577	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5704C>G; p.H1902D; 1:207618235-207618235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5673T>C; p.C1891C; 1:207618204-207618204	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5186T>A; p.L1729H; 1:207612002-207612002	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.2546A>G; p.Y849C; 1:207565867-207565867	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4054C>T; p.P1352S; 1:207584750-207584750	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2603-8T>C; p.?; 1:207567816-207567816	ovary	other; neoplasm	Unknown
c.3303G>A; p.G1101G; 1:207577920-207577920	skin	malignant_melanoma	Substitution - coding silent
c.4935C>G; p.H1645Q; 1:207609678-207609678	pancreas	carcinoma	Substitution - Missense
c.3887C>A; p.S1296Y; 1:207581938-207581938	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4126G>A; p.G1376R; 1:207584822-207584822	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3787G>A; p.G1263S; 1:207580534-207580534	skin; trunk	malignant_melanoma	Substitution - Missense
c.5108C>T; p.A1703V; 1:207611839-207611839	skin	malignant_melanoma	Substitution - Missense
c.4630G>T; p.V1544L; 1:207609373-207609373	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3673A>G; p.S1225G; 1:207580326-207580326	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1078G>A; p.D360N; 1:207527035-207527035	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4195_4196CC>AA; p.P1399K; 1:207587400-207587401	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4305C>T; p.F1435F; 1:207587510-207587510	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.145C>T; p.L49F; 1:207505927-207505927	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.991G>A; p.D331N; 1:207526857-207526857	skin	malignant_melanoma	Substitution - Missense
c.1031G>A; p.G344E; 1:207526897-207526897	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5156C>T; p.P1719L; 1:207611972-207611972	skin	malignant_melanoma	Substitution - Missense
c.5009C>T; p.S1670L; 1:207611740-207611740	skin	malignant_melanoma	Substitution - Missense
c.2334C>T; p.P778P; 1:207563961-207563961	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5156C>T; p.P1719L; 1:207611972-207611972	breast	carcinoma	Substitution - Missense
c.932G>A; p.R311K; 1:207526798-207526798	skin	malignant_melanoma	Substitution - Missense
c.2303C>T; p.P768L; 1:207563930-207563930	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2751C>G; p.T917T; 1:207567972-207567972	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.597C>T; p.S199S; 1:207523720-207523720	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.327T>A; p.D109E; 1:207506739-207506739	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5492G>A; p.G1831E; 1:207616755-207616755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3330G>A; p.E1110E; 1:207577947-207577947	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3193C>T; p.P1065S; 1:207577810-207577810	skin	malignant_melanoma	Substitution - Missense
c.5027T>A; p.F1676Y; 1:207611758-207611758	kidney	other; neoplasm	Substitution - Missense
c.326A>T; p.D109V; 1:207506738-207506738	skin	malignant_melanoma	Substitution - Missense
c.4224G>A; p.T1408T; 1:207587429-207587429	skin	malignant_melanoma	Substitution - coding silent
c.4224G>A; p.T1408T; 1:207587429-207587429	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4367C>T; p.S1456L; 1:207588681-207588681	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.469G>A; p.E157K; 1:207511636-207511636	skin	malignant_melanoma	Substitution - Missense
c.2051T>C; p.I684T; 1:207542395-207542395	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2051T>C; p.I684T; 1:207542395-207542395	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2051T>C; p.I684T; 1:207542395-207542395	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2051T>C; p.I684T; 1:207542395-207542395	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.495T>C; p.P165P; 1:207523618-207523618	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.333G>A; p.V111V; 1:207506745-207506745	skin	malignant_melanoma	Substitution - coding silent
c.5387G>A; p.G1796E; 1:207616650-207616650	skin	malignant_melanoma	Substitution - Missense
c.5882C>G; p.P1961R; 1:207620045-207620045	breast	carcinoma	Substitution - Missense
c.2777G>A; p.G926E; 1:207567998-207567998	skin	malignant_melanoma	Substitution - Missense
c.961G>A; p.E321K; 1:207526827-207526827	skin	malignant_melanoma	Substitution - Missense
c.5693G>T; p.S1898I; 1:207618224-207618224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3380G>C; p.G1127A; 1:207577997-207577997	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3380G>C; p.G1127A; 1:207577997-207577997	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3249G>A; p.E1083E; 1:207577866-207577866	skin	malignant_melanoma	Substitution - coding silent
c.1008G>A; p.A336A; 1:207526874-207526874	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3601C>T; p.P1201S; 1:207580254-207580254	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4945+1G>A; p.?; 1:207609689-207609689	oesophagus	carcinoma; adenocarcinoma	Unknown
c.2717G>A; p.R906K; 1:207567938-207567938	skin	malignant_melanoma	Substitution - Missense
c.2731G>A; p.D911N; 1:207567952-207567952	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4942A>T; p.R1648W; 1:207609685-207609685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5312-1G>A; p.?; 1:207616574-207616574	skin	malignant_melanoma	Unknown
c.4595G>A; p.S1532N; 1:207609338-207609338	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5067G>A; p.A1689A; 1:207611798-207611798	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5311C>T; p.Q1771*; 1:207614489-207614489	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.5877C>T; p.D1959D; 1:207620040-207620040	skin	malignant_melanoma	Substitution - coding silent
c.5943G>A; p.T1981T; 1:207623009-207623009	skin	malignant_melanoma	Substitution - coding silent
c.4614T>C; p.F1538F; 1:207609357-207609357	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.5273T>C; p.M1758T; 1:207614451-207614451	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4955C>T; p.P1652L; 1:207611686-207611686	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2756G>A; p.R919H; 1:207567977-207567977	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5273T>C; p.M1758T; 1:207614451-207614451	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.5273T>C; p.M1758T; 1:207614451-207614451	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5273T>C; p.M1758T; 1:207614451-207614451	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.977G>T; p.C326F; 1:207526843-207526843	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2606T>C; p.I869T; 1:207567827-207567827	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5605C>T; p.P1869S; 1:207618136-207618136	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2517-1G>A; p.?; 1:207565837-207565837	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.5562C>G; p.I1854M; 1:207618093-207618093	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.303T>C; p.R101R; 1:207506715-207506715	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1003G>C; p.A335P; 1:207526869-207526869	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4865G>A; p.G1622E; 1:207609608-207609608	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.609G>A; p.K203K; 1:207523732-207523732	breast	carcinoma	Substitution - coding silent
c.5167G>A; p.V1723M; 1:207611983-207611983	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4165C>T; p.L1389F; 1:207584861-207584861	skin	malignant_melanoma	Substitution - Missense
c.3585G>T; p.R1195S; 1:207578202-207578202	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3585G>T; p.R1195S; 1:207578202-207578202	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5044A>T; p.S1682C; 1:207611775-207611775	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.217T>C; p.C73R; 1:207505999-207505999	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.273C>T; p.V91V; 1:207506055-207506055	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5044A>T; p.S1682C; 1:207611775-207611775	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.221G>A; p.R74H; 1:207506003-207506003	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5942C>T; p.T1981M; 1:207623008-207623008	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5279C>T; p.A1760V; 1:207614457-207614457	skin	malignant_melanoma	Substitution - Missense
c.5584G>A; p.G1862R; 1:207618115-207618115	skin	malignant_melanoma	Substitution - Missense
c.2433C>A; p.F811L; 1:207564151-207564151	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5504G>T; p.S1835I; 1:207616767-207616767	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4421C>G; p.T1474R; 1:207588735-207588735	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4843A>G; p.I1615V; 1:207609586-207609586	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3219C>T; p.A1073A; 1:207577836-207577836	skin	malignant_melanoma	Substitution - coding silent
c.4843A>G; p.I1615V; 1:207609586-207609586	thyroid	other; neoplasm	Substitution - Missense
c.4621G>A; p.G1541R; 1:207609364-207609364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2806C>A; p.R936S; 1:207568027-207568027	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3485T>C; p.V1162A; 1:207578102-207578102	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1855delC; p.T621fs*21; 1:207542199-207542199	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4360+3G>T; p.?; 1:207587568-207587568	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.3414C>A; p.C1138*; 1:207578031-207578031	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4156C>T; p.R1386C; 1:207584852-207584852	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5684G>A; p.G1895E; 1:207618215-207618215	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.197G>T; p.G66V; 1:207505979-207505979	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4271A>C; p.Y1424S; 1:207587476-207587476	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3174G>A; p.P1058P; 1:207575667-207575667	pancreas	carcinoma	Substitution - coding silent
c.3699A>T; p.R1233S; 1:207580352-207580352	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.51C>T; p.P17P; 1:207496318-207496318	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2549G>T; p.C850F; 1:207565870-207565870	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3527G>A; p.R1176H; 1:207578144-207578144	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3348C>T; p.T1116T; 1:207577965-207577965	skin	malignant_melanoma	Substitution - coding silent
c.969C>A; p.F323L; 1:207526835-207526835	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4213G>A; p.A1405T; 1:207587418-207587418	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2491A>T; p.K831*; 1:207564209-207564209	NS	NS	Substitution - Nonsense
c.5498G>A; p.W1833*; 1:207616761-207616761	skin	malignant_melanoma	Substitution - Nonsense
c.3323T>G; p.V1108G; 1:207577940-207577940	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.154G>T; p.A52S; 1:207505936-207505936	breast	carcinoma	Substitution - Missense
c.3867-1G>T; p.?; 1:207581917-207581917	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.154G>T; p.A52S; 1:207505936-207505936	stomach	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation