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	5243
Symbol	ABCB1
Synonymous	ABC20\|CD243\|CLCS\|GP170\|MDR1\|P-GP\|PGY1
Full name	ATP-binding cassette, sub-family B (MDR/TAP), member 1
Gene description	P-glycoprotein 1\|colchicin sensitivity\|doxorubicin resistance\|multidrug resistance protein 1
Cytoband	7q21.12
Gene type	protein-coding
Synonymous	MIM:171050; HGNC:HGNC:40; Ensembl:ENSG00000085563; HPRD:01370; Vega:OTTHUMG00000023393

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.971G>A; p.G324E; 7:87553789-87553789	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1451T>A; p.I484K; 7:87549954-87549954	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2960C>T; p.A987V; 7:87516633-87516633	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3213C>A; p.S1071R; 7:87515300-87515300	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3755A>C; p.K1252T; 7:87504331-87504331	pancreas	carcinoma	Substitution - Missense
c.1976G>T; p.R659I; 7:87544911-87544911	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3143C>T; p.P1048L; 7:87515370-87515370	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1455T>G; p.A485A; 7:87549950-87549950	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.847G>T; p.E283*; 7:87553913-87553913	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.847G>T; p.E283*; 7:87553913-87553913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.521G>A; p.R174Q; 7:87566794-87566794	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3364C>T; p.L1122L; 7:87509400-87509400	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.862G>T; p.G288W; 7:87553898-87553898	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1838A>C; p.D613A; 7:87545912-87545912	thyroid	other; neoplasm	Substitution - Missense
c.1567C>A; p.L523M; 7:87549506-87549506	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2288G>A; p.G763E; 7:87541388-87541388	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3487A>G; p.N1163D; 7:87509277-87509277	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2020G>T; p.G674*; 7:87544867-87544867	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2659A>G; p.K887E; 7:87531320-87531320	skin	malignant_melanoma	Substitution - Missense
c.2576T>G; p.L859R; 7:87531403-87531403	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2659A>G; p.K887E; 7:87531320-87531320	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2987C>T; p.P996L; 7:87516606-87516606	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2807A>G; p.H936R; 7:87519446-87519446	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3608C>T; p.T1203M; 7:87505925-87505925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2230G>T; p.D744Y; 7:87541446-87541446	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3226A>G; p.K1076E; 7:87515287-87515287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1051A>G; p.S351G; 7:87550787-87550787	liver	carcinoma	Substitution - Missense
c.401C>T; p.S134L; 7:87566914-87566914	skin	malignant_melanoma	Substitution - Missense
c.3226A>G; p.K1076E; 7:87515287-87515287	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1710G>A; p.Q570Q; 7:87549363-87549363	breast	carcinoma	Substitution - coding silent
c.1036G>A; p.G346R; 7:87550802-87550802	skin	malignant_melanoma	Substitution - Missense
c.1000-2A>G; p.?; 7:87550840-87550840	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Unknown
c.3827G>C; p.G1276A; 7:87504259-87504259	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.116T>A; p.M39K; 7:87595767-87595767	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1811G>A; p.G604E; 7:87545939-87545939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2974A>G; p.S992G; 7:87516619-87516619	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2645A>G; p.Q882R; 7:87531334-87531334	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3147C>T; p.D1049D; 7:87515366-87515366	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2397+1G>T; p.?; 7:87539267-87539267	lung	carcinoma; adenocarcinoma	Unknown
c.1840G>T; p.E614*; 7:87545910-87545910	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2615G>T; p.G872V; 7:87531364-87531364	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2021G>A; p.G674E; 7:87544866-87544866	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.595A>G; p.T199A; 7:87566177-87566177	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3570T>C; p.L1190L; 7:87505963-87505963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2397+1G>T; p.?; 7:87539267-87539267	lung	carcinoma; adenocarcinoma	Unknown
c.1784C>G; p.A595G; 7:87545966-87545966	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3073G>T; p.G1025C; 7:87516520-87516520	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3842G>T; p.*1281L; 7:87504244-87504244	large_intestine	carcinoma; adenocarcinoma	Nonstop extension
c.3842G>T; p.*1281L; 7:87504244-87504244	large_intestine; colon	carcinoma; adenocarcinoma	Nonstop extension
c.3751G>A; p.V1251I; 7:87504335-87504335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2695G>A; p.E899K; 7:87520867-87520867	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2528T>G; p.L843R; 7:87531451-87531451	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.828-2A>G; p.?; 7:87553934-87553934	stomach	carcinoma; adenocarcinoma	Unknown
c.1561G>C; p.D521H; 7:87549512-87549512	breast	carcinoma	Substitution - Missense
c.857G>T; p.R286I; 7:87553903-87553903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.857G>T; p.R286I; 7:87553903-87553903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.663C>T; p.I221I; 7:87566109-87566109	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.857G>T; p.R286I; 7:87553903-87553903	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2566C>T; p.Q856*; 7:87531413-87531413	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1990A>T; p.R664*; 7:87544897-87544897	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.53A>C; p.K18T; 7:87600132-87600132	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.53A>C; p.K18T; 7:87600132-87600132	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.857G>T; p.R286I; 7:87553903-87553903	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2714G>A; p.R905Q; 7:87520848-87520848	skin	malignant_melanoma	Substitution - Missense
c.61A>G; p.N21D; 7:87600124-87600124	prostate	adenoma	Substitution - Missense
c.2428A>G; p.T810A; 7:87536511-87536511	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.745A>G; p.K249E; 7:87561345-87561345	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.602delT; p.F201fs*5; 7:87566170-87566170	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1999T>A; p.S667T; 7:87544888-87544888	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3554C>T; p.A1185V; 7:87505979-87505979	skin	malignant_melanoma	Substitution - Missense
c.3253C>T; p.R1085W; 7:87515260-87515260	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.572G>T; p.G191V; 7:87566200-87566200	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3566C>T; p.A1189V; 7:87505967-87505967	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.122G>T; p.R41L; 7:87585676-87585676	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3253C>T; p.R1085W; 7:87515260-87515260	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3566C>T; p.A1189V; 7:87505967-87505967	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.806G>A; p.G269E; 7:87561284-87561284	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1066G>T; p.A356S; 7:87550772-87550772	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.304G>T; p.G102W; 7:87570206-87570206	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3609G>A; p.T1203T; 7:87505924-87505924	breast	carcinoma	Substitution - coding silent
c.118-1G>T; p.?; 7:87585681-87585681	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2245C>T; p.R749*; 7:87541431-87541431	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2365C>T; p.R789*; 7:87539300-87539300	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2018G>A; p.R673H; 7:87544869-87544869	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2018G>A; p.R673H; 7:87544869-87544869	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2018G>A; p.R673H; 7:87544869-87544869	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2245C>T; p.R749*; 7:87541431-87541431	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.3048T>G; p.P1016P; 7:87516545-87516545	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.234C>A; p.I78I; 7:87585564-87585564	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2681G>C; p.G894A; 7:87531298-87531298	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.863G>A; p.G288E; 7:87553897-87553897	skin	malignant_melanoma	Substitution - Missense
c.758T>C; p.V253A; 7:87561332-87561332	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2816G>C; p.G939A; 7:87519437-87519437	breast	carcinoma	Substitution - Missense
c.2413G>A; p.D805N; 7:87536526-87536526	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3258C>T; p.F1086F; 7:87515255-87515255	skin	malignant_melanoma	Substitution - coding silent
c.2413G>A; p.D805N; 7:87536526-87536526	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2651T>G; p.L884R; 7:87531328-87531328	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.42G>T; p.K14N; 7:87600143-87600143	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.42G>T; p.K14N; 7:87600143-87600143	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1475G>T; p.R492L; 7:87549930-87549930	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3698G>A; p.R1233H; 7:87504388-87504388	pancreas	carcinoma	Substitution - Missense
c.44A>G; p.N15S; 7:87600141-87600141	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.423A>G; p.G141G; 7:87566892-87566892	skin	malignant_melanoma	Substitution - coding silent
c.3649G>A; p.A1217T; 7:87504437-87504437	skin; subungual	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.1738C>T; p.R580W; 7:87546012-87546012	skin	malignant_melanoma	Substitution - Missense
c.3649G>A; p.A1217T; 7:87504437-87504437	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2742G>T; p.Q914H; 7:87520820-87520820	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2087C>T; p.S696F; 7:87544253-87544253	skin	malignant_melanoma	Substitution - Missense
c.117G>T; p.M39I; 7:87595766-87595766	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2087C>T; p.S696F; 7:87544253-87544253	skin	malignant_melanoma	Substitution - Missense
c.188C>A; p.A63D; 7:87585610-87585610	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1674G>A; p.T558T; 7:87549399-87549399	central_nervous_system; brain	glioma	Substitution - coding silent
c.1553A>G; p.H518R; 7:87549852-87549852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.579C>G; p.F193L; 7:87566193-87566193	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2787-1G>T; p.?; 7:87519467-87519467	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.2044C>T; p.L682F; 7:87544843-87544843	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1137G>A; p.S379S; 7:87550555-87550555	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1137G>A; p.S379S; 7:87550555-87550555	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1137G>A; p.S379S; 7:87550555-87550555	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.1137G>A; p.S379S; 7:87550555-87550555	pancreas	carcinoma	Substitution - coding silent
c.1137G>A; p.S379S; 7:87550555-87550555	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1803C>T; p.F601F; 7:87545947-87545947	breast	carcinoma	Substitution - coding silent
c.918C>A; p.I306I; 7:87553842-87553842	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1891G>A; p.A631T; 7:87544996-87544996	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.42_44delGAA; p.K14delK; 7:87600141-87600143	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.102C>T; p.V34V; 7:87595781-87595781	breast	carcinoma	Substitution - coding silent
c.42_44delGAA; p.K14delK; 7:87600141-87600143	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.2102T>G; p.M701R; 7:87544238-87544238	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.42_44delGAA; p.K14delK; 7:87600141-87600143	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.1005C>A; p.F335L; 7:87550833-87550833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1176G>T; p.L392F; 7:87550516-87550516	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1176G>T; p.L392F; 7:87550516-87550516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3674G>A; p.R1225H; 7:87504412-87504412	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1991G>T; p.R664I; 7:87544896-87544896	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3674G>A; p.R1225H; 7:87504412-87504412	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1715C>T; p.A572V; 7:87549358-87549358	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.748G>A; p.A250T; 7:87561342-87561342	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.805G>A; p.G269R; 7:87561285-87561285	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.525T>C; p.L175L; 7:87566790-87566790	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.36G>T; p.K12N; 7:87600149-87600149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2717C>A; p.T906N; 7:87520845-87520845	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.170C>G; p.A57G; 7:87585628-87585628	breast	carcinoma	Substitution - Missense
c.1169G>A; p.G390E; 7:87550523-87550523	skin	malignant_melanoma	Substitution - Missense
c.1140G>T; p.K380N; 7:87550552-87550552	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.828-1G>T; p.?; 7:87553933-87553933	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.2759A>G; p.Y920C; 7:87520803-87520803	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.974A>G; p.E325G; 7:87553786-87553786	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2280A>T; p.L760L; 7:87541396-87541396	liver	carcinoma	Substitution - coding silent
c.1346G>A; p.G449E; 7:87550175-87550175	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2661G>T; p.K887N; 7:87531318-87531318	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.836A>C; p.K279T; 7:87553924-87553924	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2280A>T; p.L760L; 7:87541396-87541396	liver	carcinoma	Substitution - coding silent
c.194T>G; p.L65R; 7:87585604-87585604	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.485G>A; p.W162*; 7:87566830-87566830	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.2455G>A; p.A819T; 7:87536484-87536484	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1025delC; p.A342fs*27; 7:87550813-87550813	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1852G>C; p.E618Q; 7:87545898-87545898	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3557T>C; p.I1186T; 7:87505976-87505976	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2222G>T; p.R741I; 7:87541454-87541454	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2170C>A; p.L724M; 7:87544170-87544170	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3800A>G; p.Y1267C; 7:87504286-87504286	lung	carcinoma	Substitution - Missense
c.2454C>T; p.L818L; 7:87536485-87536485	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1177G>A; p.E393K; 7:87550515-87550515	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3231C>A; p.S1077R; 7:87515282-87515282	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2263T>C; p.F755L; 7:87541413-87541413	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1480A>C; p.N494H; 7:87549925-87549925	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3764G>T; p.G1255V; 7:87504322-87504322	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2872C>T; p.R958W; 7:87519381-87519381	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2872C>T; p.R958W; 7:87519381-87519381	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2920G>T; p.V974F; 7:87519333-87519333	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2920G>T; p.V974F; 7:87519333-87519333	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2961C>T; p.A987A; 7:87516632-87516632	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2103G>A; p.M701I; 7:87544237-87544237	skin	malignant_melanoma	Substitution - Missense
c.2961C>T; p.A987A; 7:87516632-87516632	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2590A>T; p.I864F; 7:87531389-87531389	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2480G>A; p.G827E; 7:87536459-87536459	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2591T>A; p.I864N; 7:87531388-87531388	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1639C>T; p.R547C; 7:87549434-87549434	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2279T>C; p.L760P; 7:87541397-87541397	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1223A>C; p.K408T; 7:87550469-87550469	pancreas	carcinoma	Substitution - Missense
c.3182A>G; p.K1061R; 7:87515331-87515331	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3349T>A; p.S1117T; 7:87509415-87509415	ovary	other; neoplasm	Substitution - Missense
c.1990A>G; p.R664G; 7:87544897-87544897	NS	malignant_melanoma	Substitution - Missense
c.1990A>G; p.R664G; 7:87544897-87544897	NS	malignant_melanoma	Substitution - Missense
c.817G>T; p.E273*; 7:87561273-87561273	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.817G>T; p.E273*; 7:87561273-87561273	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.817G>T; p.E273*; 7:87561273-87561273	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.817G>T; p.E273*; 7:87561273-87561273	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.548A>G; p.N183S; 7:87566224-87566224	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.184G>A; p.G62R; 7:87585614-87585614	skin	malignant_melanoma	Substitution - Missense
c.1446C>A; p.T482T; 7:87549959-87549959	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.184G>A; p.G62R; 7:87585614-87585614	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1465C>T; p.R489C; 7:87549940-87549940	skin	malignant_melanoma	Substitution - Missense
c.1465C>T; p.R489C; 7:87549940-87549940	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1465C>T; p.R489C; 7:87549940-87549940	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1465C>T; p.R489C; 7:87549940-87549940	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1777C>T; p.R593C; 7:87545973-87545973	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1777C>T; p.R593C; 7:87545973-87545973	skin	malignant_melanoma	Substitution - Missense
c.2879G>A; p.G960E; 7:87519374-87519374	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2879G>A; p.G960E; 7:87519374-87519374	skin	malignant_melanoma	Substitution - Missense
c.3628A>C; p.S1210R; 7:87505905-87505905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1994A>G; p.K665R; 7:87544893-87544893	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2577G>A; p.L859L; 7:87531402-87531402	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2689G>A; p.A897T; 7:87520873-87520873	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.339-4delT; p.?; 7:87566980-87566980	stomach	adenocarcinoma	Unknown
c.2288G>T; p.G763V; 7:87541388-87541388	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.156G>A; p.V52V; 7:87585642-87585642	pancreas	carcinoma	Substitution - coding silent
c.1337C>A; p.P446H; 7:87550184-87550184	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.457C>T; p.H153Y; 7:87566858-87566858	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3042_3043insC; p.T1015fs*5; 7:87516550-87516551	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2501C>T; p.A834V; 7:87531478-87531478	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.703-1G>C; p.?; 7:87561388-87561388	breast	carcinoma	Unknown
c.804A>G; p.G268G; 7:87561286-87561286	pancreas	carcinoma	Substitution - coding silent
c.2416G>A; p.D806N; 7:87536523-87536523	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3084+4A>G; p.?; 7:87516505-87516505	oesophagus	carcinoma; adenocarcinoma	Unknown
c.696G>T; p.W232C; 7:87566076-87566076	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1095C>T; p.I365I; 7:87550743-87550743	skin	malignant_melanoma	Substitution - coding silent
c.3496A>T; p.S1166C; 7:87506037-87506037	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3146A>G; p.D1049G; 7:87515367-87515367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.703-1G>T; p.?; 7:87561388-87561388	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1136C>A; p.S379*; 7:87550556-87550556	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1726-3T>C; p.?; 7:87546027-87546027	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.1227C>T; p.I409I; 7:87550294-87550294	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3793G>A; p.G1265S; 7:87504293-87504293	skin	malignant_melanoma	Substitution - Missense
c.3129C>A; p.N1043K; 7:87515384-87515384	thyroid	other; neoplasm	Substitution - Missense
c.2246G>A; p.R749Q; 7:87541430-87541430	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2246G>A; p.R749Q; 7:87541430-87541430	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.763G>C; p.E255Q; 7:87561327-87561327	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2246G>A; p.R749Q; 7:87541430-87541430	stomach	adenocarcinoma	Substitution - Missense
c.1345G>A; p.G449R; 7:87550176-87550176	skin	malignant_melanoma	Substitution - Missense
c.1795G>A; p.A599T; 7:87545955-87545955	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1979C>G; p.S660C; 7:87544908-87544908	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3041A>G; p.K1014R; 7:87516552-87516552	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.499G>A; p.D167N; 7:87566816-87566816	skin	malignant_melanoma	Substitution - Missense
c.1175T>C; p.L392S; 7:87550517-87550517	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1239G>A; p.L413L; 7:87550282-87550282	skin	malignant_melanoma	Substitution - coding silent
c.2246G>T; p.R749L; 7:87541430-87541430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3177G>A; p.E1059E; 7:87515336-87515336	skin	malignant_melanoma	Substitution - coding silent
c.826A>C; p.R276R; 7:87561264-87561264	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3564T>C; p.R1188R; 7:87505969-87505969	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2153C>T; p.A718V; 7:87544187-87544187	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1251G>A; p.V417V; 7:87550270-87550270	breast	carcinoma	Substitution - coding silent
c.3757G>A; p.E1253K; 7:87504329-87504329	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3757G>A; p.E1253K; 7:87504329-87504329	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1807G>C; p.D603H; 7:87545943-87545943	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.646C>T; p.L216F; 7:87566126-87566126	skin	malignant_melanoma	Substitution - Missense
c.1216G>T; p.E406*; 7:87550476-87550476	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1379C>A; p.T460N; 7:87550026-87550026	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.325G>T; p.E109*; 7:87570185-87570185	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.955A>C; p.T319P; 7:87553805-87553805	breast	carcinoma	Substitution - Missense
c.1720G>C; p.D574H; 7:87549353-87549353	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2664A>C; p.K888N; 7:87531315-87531315	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1224+2T>C; p.?; 7:87550466-87550466	stomach	carcinoma; adenocarcinoma	Unknown
c.1144G>A; p.G382R; 7:87550548-87550548	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2713C>A; p.R905R; 7:87520849-87520849	skin	malignant_melanoma	Substitution - coding silent
c.3644A>G; p.Q1215R; 7:87504442-87504442	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3288T>C; p.L1096L; 7:87509476-87509476	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.771C>A; p.V257V; 7:87561319-87561319	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3046C>T; p.P1016S; 7:87516547-87516547	skin	malignant_melanoma	Substitution - Missense
c.1789G>A; p.V597I; 7:87545961-87545961	central_nervous_system; brainstem	glioma; astrocytoma_Grade_III	Substitution - Missense
c.2230G>A; p.D744N; 7:87541446-87541446	skin	malignant_melanoma	Substitution - Missense
c.1509T>G; p.A503A; 7:87549896-87549896	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1789G>A; p.V597I; 7:87545961-87545961	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.893C>G; p.S298C; 7:87553867-87553867	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.952A>G; p.T318A; 7:87553808-87553808	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2936C>T; p.S979L; 7:87516657-87516657	skin	malignant_melanoma	Substitution - Missense
c.1412G>A; p.G471D; 7:87549993-87549993	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1471G>A; p.G491S; 7:87549934-87549934	skin; arm	malignant_melanoma	Substitution - Missense
c.282T>C; p.N94N; 7:87585516-87585516	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3345C>T; p.I1115I; 7:87509419-87509419	skin	malignant_melanoma	Substitution - coding silent
c.766G>T; p.E256*; 7:87561324-87561324	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1519G>A; p.A507T; 7:87549886-87549886	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2702T>A; p.I901K; 7:87520860-87520860	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3416T>C; p.V1139A; 7:87509348-87509348	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2634G>T; p.M878I; 7:87531345-87531345	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1628G>A; p.R543H; 7:87549445-87549445	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2678C>A; p.S893Y; 7:87531301-87531301	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2871C>T; p.F957F; 7:87519382-87519382	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.668C>T; p.P223L; 7:87566104-87566104	skin	malignant_melanoma	Substitution - Missense
c.3301A>T; p.I1101L; 7:87509463-87509463	skin	malignant_melanoma	Substitution - Missense
c.248G>A; p.G83E; 7:87585550-87585550	skin	malignant_melanoma	Substitution - Missense
c.248G>A; p.G83E; 7:87585550-87585550	skin	malignant_melanoma	Substitution - Missense
c.469C>T; p.R157*; 7:87566846-87566846	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.913C>T; p.L305L; 7:87553847-87553847	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1184G>A; p.R395K; 7:87550508-87550508	skin	malignant_melanoma	Substitution - Missense
c.3430G>C; p.E1144Q; 7:87509334-87509334	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2005C>G; p.R669G; 7:87544882-87544882	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2718C>T; p.T906T; 7:87520844-87520844	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1542G>A; p.M514I; 7:87549863-87549863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3182A>C; p.K1061T; 7:87515331-87515331	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1725+1G>C; p.?; 7:87549347-87549347	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1368G>T; p.Q456H; 7:87550037-87550037	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1368G>T; p.Q456H; 7:87550037-87550037	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2296T>A; p.S766T; 7:87541380-87541380	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1115A>G; p.K372R; 7:87550577-87550577	liver	carcinoma	Substitution - Missense
c.1614G>T; p.R538S; 7:87549459-87549459	breast	carcinoma	Substitution - Missense
c.987A>G; p.G329G; 7:87553773-87553773	central_nervous_system; brain	glioma	Substitution - coding silent
c.3107C>T; p.T1036I; 7:87515406-87515406	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1568T>A; p.L523Q; 7:87549505-87549505	prostate	carcinoma	Substitution - Missense
c.308T>A; p.F103Y; 7:87570202-87570202	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3194C>T; p.T1065M; 7:87515319-87515319	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3194C>T; p.T1065M; 7:87515319-87515319	breast	carcinoma	Substitution - Missense
c.3194C>T; p.T1065M; 7:87515319-87515319	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3194C>T; p.T1065M; 7:87515319-87515319	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1745C>T; p.T582I; 7:87546005-87546005	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3055G>T; p.D1019Y; 7:87516538-87516538	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1686C>A; p.D562E; 7:87549387-87549387	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2744A>G; p.K915R; 7:87520818-87520818	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1294G>A; p.G432R; 7:87550227-87550227	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2785A>T; p.R929*; 7:87520777-87520777	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1752G>A; p.V584V; 7:87545998-87545998	prostate	carcinoma	Substitution - coding silent
c.1211G>A; p.R404Q; 7:87550481-87550481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1555-1G>A; p.?; 7:87549519-87549519	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1840G>A; p.E614K; 7:87545910-87545910	skin	malignant_melanoma	Substitution - Missense
c.164C>G; p.T55S; 7:87585634-87585634	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1211G>A; p.R404Q; 7:87550481-87550481	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1211G>A; p.R404Q; 7:87550481-87550481	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2855C>T; p.S952F; 7:87519398-87519398	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.1211G>A; p.R404Q; 7:87550481-87550481	skin	malignant_melanoma	Substitution - Missense
c.2549C>T; p.S850F; 7:87531430-87531430	skin	malignant_melanoma	Substitution - Missense
c.2855C>T; p.S952F; 7:87519398-87519398	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1211G>A; p.R404Q; 7:87550481-87550481	breast	carcinoma	Substitution - Missense
c.2947T>G; p.F983V; 7:87516646-87516646	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3796A>G; p.I1266V; 7:87504290-87504290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2275T>C; p.F759L; 7:87541401-87541401	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.382G>T; p.A128S; 7:87566933-87566933	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1847T>C; p.M616T; 7:87545903-87545903	liver	carcinoma	Substitution - Missense
c.75A>G; p.K25K; 7:87595808-87595808	breast	carcinoma	Substitution - coding silent
c.2665G>T; p.E889*; 7:87531314-87531314	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1847T>C; p.M616T; 7:87545903-87545903	liver	carcinoma	Substitution - Missense
c.100G>A; p.V34I; 7:87595783-87595783	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3228G>T; p.K1076N; 7:87515285-87515285	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2021G>C; p.G674A; 7:87544866-87544866	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.689C>T; p.A230V; 7:87566083-87566083	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1371T>A; p.D457E; 7:87550034-87550034	NS	malignant_melanoma	Substitution - Missense
c.1788C>T; p.D596D; 7:87545962-87545962	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.318T>G; p.N106K; 7:87570192-87570192	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1106T>C; p.I369T; 7:87550732-87550732	skin; extremity	malignant_melanoma	Substitution - Missense
c.2374G>A; p.V792I; 7:87539291-87539291	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2623G>A; p.E875K; 7:87531356-87531356	breast	carcinoma	Substitution - Missense
c.287-1G>T; p.?; 7:87570224-87570224	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1136C>T; p.S379L; 7:87550556-87550556	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2359C>T; p.R787W; 7:87539306-87539306	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2966G>A; p.G989E; 7:87516627-87516627	breast	carcinoma	Substitution - Missense
c.1402G>A; p.E468K; 7:87550003-87550003	skin	malignant_melanoma	Substitution - Missense
c.785G>T; p.R262I; 7:87561305-87561305	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1402G>A; p.E468K; 7:87550003-87550003	skin	malignant_melanoma	Substitution - Missense
c.1980C>A; p.S660S; 7:87544907-87544907	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2413G>T; p.D805Y; 7:87536526-87536526	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2088C>A; p.S696S; 7:87544252-87544252	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1108G>C; p.D370H; 7:87550730-87550730	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3355G>A; p.E1119K; 7:87509409-87509409	skin; extremity	malignant_melanoma	Substitution - Missense
c.787A>T; p.T263S; 7:87561303-87561303	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3673C>T; p.R1225C; 7:87504413-87504413	prostate	carcinoma	Substitution - Missense
c.1366C>T; p.Q456*; 7:87550039-87550039	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.34_36delAAG; p.K14delK; 7:87600149-87600151	ovary	carcinoma	Deletion - In frame
c.3518G>A; p.G1173E; 7:87506015-87506015	skin	malignant_melanoma	Substitution - Missense
c.122G>A; p.R41H; 7:87585676-87585676	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2165G>T; p.G722V; 7:87544175-87544175	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2165G>A; p.G722E; 7:87544175-87544175	skin	malignant_melanoma	Substitution - Missense
c.122G>A; p.R41H; 7:87585676-87585676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3327C>T; p.L1109L; 7:87509437-87509437	skin; leg	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.965T>C; p.L322P; 7:87553795-87553795	central_nervous_system; brain	glioma	Substitution - Missense
c.1312C>T; p.Q438*; 7:87550209-87550209	skin	malignant_melanoma	Substitution - Nonsense
c.3043A>T; p.T1015S; 7:87516550-87516550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.602_603TC>AT; p.F201Y; 7:87566169-87566170	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.301A>G; p.T101A; 7:87570209-87570209	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3074G>T; p.G1025V; 7:87516519-87516519	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.847G>A; p.E283K; 7:87553913-87553913	skin	malignant_melanoma	Substitution - Missense
c.1111A>C; p.N371H; 7:87550727-87550727	ovary	other; neoplasm	Substitution - Missense
c.3547C>T; p.R1183C; 7:87505986-87505986	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1399C>T; p.R467W; 7:87550006-87550006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1399C>T; p.R467W; 7:87550006-87550006	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1399C>T; p.R467W; 7:87550006-87550006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1399C>T; p.R467W; 7:87550006-87550006	prostate	carcinoma	Substitution - Missense
c.1399C>T; p.R467W; 7:87550006-87550006	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1399C>T; p.R467W; 7:87550006-87550006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.880A>T; p.T294S; 7:87553880-87553880	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.848_850delAAG; p.E283delE; 7:87553910-87553912	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Deletion - In frame
c.2366G>A; p.R789Q; 7:87539299-87539299	skin	malignant_melanoma	Substitution - Missense
c.1932C>A; p.S644S; 7:87544955-87544955	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3625G>A; p.E1209K; 7:87505908-87505908	skin	malignant_melanoma	Substitution - Missense
c.2864G>T; p.G955V; 7:87519389-87519389	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2041A>G; p.K681E; 7:87544846-87544846	urinary_tract; bladder	carcinoma	Substitution - Missense
c.880A>G; p.T294A; 7:87553880-87553880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2398G>T; p.D800Y; 7:87536541-87536541	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1169G>C; p.G390A; 7:87550523-87550523	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.682T>C; p.S228P; 7:87566090-87566090	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1301G>T; p.S434I; 7:87550220-87550220	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3601G>A; p.E1201K; 7:87505932-87505932	skin	malignant_melanoma	Substitution - Missense
c.624T>C; p.F208F; 7:87566148-87566148	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2674G>T; p.G892C; 7:87531305-87531305	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.624T>C; p.F208F; 7:87566148-87566148	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3244C>A; p.L1082I; 7:87515269-87515269	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2166A>G; p.G722G; 7:87544174-87544174	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.750T>C; p.A250A; 7:87561340-87561340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1656C>A; p.L552L; 7:87549417-87549417	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2065-1G>T; p.?; 7:87544276-87544276	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1419G>A; p.V473V; 7:87549986-87549986	breast	carcinoma	Substitution - coding silent
c.3832A>G; p.K1278E; 7:87504254-87504254	skin	malignant_melanoma	Substitution - Missense
c.829T>C; p.Y277H; 7:87553931-87553931	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1790T>C; p.V597A; 7:87545960-87545960	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.857G>C; p.R286T; 7:87553903-87553903	parathyroid	carcinoma	Substitution - Missense
c.1829G>A; p.G610E; 7:87545921-87545921	skin	malignant_melanoma	Substitution - Missense
c.1829G>A; p.G610E; 7:87545921-87545921	skin	malignant_melanoma	Substitution - Missense
c.1829G>A; p.G610E; 7:87545921-87545921	skin	malignant_melanoma	Substitution - Missense
c.470G>T; p.R157L; 7:87566845-87566845	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2995G>A; p.A999T; 7:87516598-87516598	large_intestine; colon	carcinoma	Substitution - Missense
c.1829G>A; p.G610E; 7:87545921-87545921	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1829G>A; p.G610E; 7:87545921-87545921	skin	malignant_melanoma	Substitution - Missense
c.1855A>G; p.K619E; 7:87545895-87545895	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3533G>T; p.G1178V; 7:87506000-87506000	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1690G>C; p.E564Q; 7:87549383-87549383	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.304G>C; p.G102R; 7:87570206-87570206	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.513T>A; p.L171L; 7:87566802-87566802	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2704G>T; p.E902*; 7:87520858-87520858	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1608G>A; p.K536K; 7:87549465-87549465	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2816G>A; p.G939E; 7:87519437-87519437	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.620G>A; p.G207E; 7:87566152-87566152	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.991G>T; p.V331L; 7:87553769-87553769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2896C>A; p.H966N; 7:87519357-87519357	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2556C>A; p.I852I; 7:87531423-87531423	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2313C>T; p.F771F; 7:87541363-87541363	skin	malignant_melanoma	Substitution - coding silent
c.2313C>T; p.F771F; 7:87541363-87541363	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2135T>C; p.V712A; 7:87544205-87544205	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2313C>T; p.F771F; 7:87541363-87541363	skin	malignant_melanoma	Substitution - coding silent
c.1292G>A; p.C431Y; 7:87550229-87550229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2190A>G; p.I730M; 7:87544150-87544150	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2522C>A; p.A841E; 7:87531457-87531457	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1466G>A; p.R489H; 7:87549939-87549939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3117A>C; p.E1039D; 7:87515396-87515396	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3225G>A; p.G1075G; 7:87515288-87515288	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3225G>A; p.G1075G; 7:87515288-87515288	skin	malignant_melanoma	Substitution - coding silent
c.1392G>A; p.R464R; 7:87550013-87550013	skin	malignant_melanoma	Substitution - coding silent
c.1972T>C; p.S658P; 7:87544915-87544915	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1399C>A; p.R467R; 7:87550006-87550006	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2684A>T; p.K895M; 7:87531295-87531295	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2269C>A; p.L757I; 7:87541407-87541407	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3596T>C; p.L1199S; 7:87505937-87505937	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3596T>C; p.L1199S; 7:87505937-87505937	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.121C>T; p.R41C; 7:87585677-87585677	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.121C>T; p.R41C; 7:87585677-87585677	skin	malignant_melanoma	Substitution - Missense
c.121C>T; p.R41C; 7:87585677-87585677	central_nervous_system; brain	glioma	Substitution - Missense
c.121C>T; p.R41C; 7:87585677-87585677	skin	malignant_melanoma	Substitution - Missense
c.1603C>T; p.Q535*; 7:87549470-87549470	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3523C>T; p.Q1175*; 7:87506010-87506010	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1725G>A; p.K575K; 7:87549348-87549348	skin	malignant_melanoma	Substitution - coding silent
c.1341A>G; p.T447T; 7:87550180-87550180	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1407C>T; p.I469I; 7:87549998-87549998	skin	malignant_melanoma	Substitution - coding silent
c.3019C>A; p.H1007N; 7:87516574-87516574	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1280G>A; p.G427E; 7:87550241-87550241	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.755C>A; p.A252E; 7:87561335-87561335	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3104T>C; p.V1035A; 7:87515409-87515409	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1322A>G; p.Q441R; 7:87550199-87550199	urinary_tract; bladder	carcinoma	Substitution - Missense
c.654T>A; p.I218I; 7:87566118-87566118	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1786G>C; p.D596H; 7:87545964-87545964	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2430C>A; p.T810T; 7:87536509-87536509	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2320G>A; p.G774S; 7:87539345-87539345	breast	carcinoma	Substitution - Missense
c.2828C>T; p.S943F; 7:87519425-87519425	skin	malignant_melanoma	Substitution - Missense
c.2521G>A; p.A841T; 7:87531458-87531458	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1092A>C; p.E364D; 7:87550746-87550746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.443G>C; p.R148T; 7:87566872-87566872	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2914G>T; p.E972*; 7:87519339-87519339	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.961G>C; p.V321L; 7:87553799-87553799	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.493G>A; p.V165M; 7:87566822-87566822	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1680C>A; p.A560A; 7:87549393-87549393	oesophagus	carcinoma	Substitution - coding silent
c.2435G>A; p.G812E; 7:87536504-87536504	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.421G>T; p.G141*; 7:87566894-87566894	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2873G>A; p.R958Q; 7:87519380-87519380	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2873G>A; p.R958Q; 7:87519380-87519380	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2314C>T; p.L772F; 7:87541362-87541362	skin	malignant_melanoma	Substitution - Missense
c.405T>G; p.F135L; 7:87566910-87566910	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2873G>A; p.R958Q; 7:87519380-87519380	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1423C>A; p.Q475K; 7:87549982-87549982	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2744A>C; p.K915T; 7:87520818-87520818	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.749C>A; p.A250D; 7:87561341-87561341	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.356G>A; p.S119N; 7:87566959-87566959	skin	malignant_melanoma	Substitution - Missense
c.1035T>C; p.V345V; 7:87550803-87550803	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3144G>A; p.P1048P; 7:87515369-87515369	breast	carcinoma	Substitution - coding silent
c.2191A>C; p.I731L; 7:87544149-87544149	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1812A>G; p.G604G; 7:87545938-87545938	breast	carcinoma	Substitution - coding silent
c.3261C>T; p.Y1087Y; 7:87515252-87515252	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3261C>T; p.Y1087Y; 7:87515252-87515252	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3163G>T; p.G1055*; 7:87515350-87515350	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.284G>T; p.R95I; 7:87585514-87585514	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1581_1582delAG; p.A529fs*27; 7:87549491-87549492	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1581_1582delAG; p.A529fs*27; 7:87549491-87549492	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.661A>G; p.I221V; 7:87566111-87566111	liver	carcinoma	Substitution - Missense
c.2452C>A; p.L818I; 7:87536487-87536487	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1095C>A; p.I365I; 7:87550743-87550743	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1312C>A; p.Q438K; 7:87550209-87550209	stomach	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation