Entrez Gene

Basic Information
Gene ID	5925
Name	RB1
Synonymous	OSRC\|RB\|p105-Rb\|pRb\|pp110;retinoblastoma 1;RB1;retinoblastoma 1
Definition	retinoblastoma suspectibility protein\|retinoblastoma-associated protein
Position	13q14.2
Gene Type	protein-coding
Gene Mutation:	PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation

Variant (Variant; Chr; Position)	Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)	Disease (CancerType; ValidationStatus; SequencingType)
PCGP germline mutation [Top]
RB1_R445; chr13; 48953730	SUB; NONSENSE; C; C/T; GERMLINE	RB; VALID; WGS

Variant (Variant; Chr; Position)	Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)	Disease (CancerType; ValidationStatus; SequencingType)
PCGP somatic mutation [Top]
RB1_R445*; chr13; 48953730	SUB; NONSENSE; C; C/T; SOMATIC	AMLM7; VALID; EXOME
RB1_R579*; chr13; 49027168	SUB; NONSENSE; C; C/T; SOMATIC	HYPO; VALID; EXOME
RB1_E27_UTR_3; chr13; 49055810	SUB; UTR_3; C; C/A; SOMATIC	HYPO; PUTATIVE-HQ; WGS
RB1_Y655>SY; chr13; 49033827	IPROTEINI-; -/CCT; SOMATIC	HYPO; VALID; TARGETED_SEQUENCING
RB1_Y655>SY; chr13; 49033827	IPROTEINI-; -/CCT; SOMATIC	HYPO; VALID; WGS
RB1_K192fs; chr13; 48923127	DEL; FRAMESHIFT; AA; AA/-; SOMATIC	HYPO; VALID; TARGETED_SEQUENCING
RB1_L223fs; chr13; 48934213	IFRAMESHIFT; -; -/C; SOMATIC	HYPO; VALID; TARGETED_SEQUENCING
RB1_S149*; chr13; 48919281	SUB; NONSENSE; C; C/A; SOMATIC	HYPO; VALID; TARGETED_SEQUENCING
RB1_V205fs; chr13; 48934160	IFRAMESHIFT; -; -/T; SOMATIC	HYPO; VALID; TARGETED_SEQUENCING
RB1_L317fs; chr13; 48941639	DEL; FRAMESHIFT; C; C/-; SOMATIC	HYPO; VALID; TARGETED_SEQUENCING
RB1_R358*; chr13; 48942685	SUB; NONSENSE; C; C/T; SOMATIC	RB; VALID; WGS
RB1_splice_region; chr13; 48916853	SUB; SPLICE_REGION; A; A/C; SOMATIC	RB; VALID; WGS
RB1_Y659_E20splice; chr13; 49033823	SUB; SPLICE; G; G/A; SOMATIC	RB; VALID; WGS

Mutation (CDS; AA; Chr)	Site	Histology
COSMIC somatic mutation [Top]
c.1654C>T; p.R552*; 13:47853539-47853539	liver	carcinoma; hepatocellular_carcinoma
c.1303G>T; p.G435*;	liver	carcinoma; hepatocellular_carcinoma
c.2023G>T; p.E675*;	liver	carcinoma; hepatocellular_carcinoma
c.157G>A; p.E53K;	breast	carcinoma; basal_(triple-negative)_carcinoma
c.2077G>T; p.E693*;	breast	carcinoma; lobular_carcinoma
c.1817A>G; p.Y606C;	salivary_gland	carcinoma; adenoid_cystic_carcinoma
c.225G>A; p.W75*; 13:47779504-47779504	lung	carcinoma; small_cell_carcinoma
c.256G>T; p.G86*; 13:47779535-47779535	lung	carcinoma; small_cell_carcinoma
c.1391delA; p.E465fs*13;	lung	carcinoma; small_cell_carcinoma
c.1499-2A>C; p.?;	lung	carcinoma; small_cell_carcinoma
c.1994T>G; p.L665R;	lung	carcinoma; small_cell_carcinoma
c.2187delG; p.D730fs*14;	lung	carcinoma; small_cell_carcinoma
c.1216-?_2787+?del; p.?;	breast	carcinoma
c.1819C>A; p.L607I; 13:47928345-47928345	breast	carcinoma
c.2107-?_2489+?del; p.?;	breast	carcinoma
c.2092A>T; p.R698W; 13:47931956-47931956	breast	carcinoma
c.751C>T; p.R251*; 13:47834984-47834984	eye; retina	retinoblastoma
c.1072C>T; p.R358*; 13:47840686-47840686	eye; retina	retinoblastoma
c.?; p.L234*;	salivary_gland; tongue	carcinoma; adenocarcinoma
c.?; p.L234*;	salivary_gland; tongue	carcinoma; adenocarcinoma
c.1_2787del2787; p.0?; 13:47776050-47952208	bone; pelvis	malignant_fibrous_histiocytoma-pleomorphic_sarcoma
c.1_2787del2787; p.0?; 13:47776050-47952208	bone; pelvis	malignant_fibrous_histiocytoma-pleomorphic_sarcoma
c.1_2787del2787; p.0?; 13:47776050-47952208	bone; pelvis	malignant_fibrous_histiocytoma-pleomorphic_sarcoma
c.1_2787del2787; p.0?; 13:47776050-47952208	bone; tibia	malignant_fibrous_histiocytoma-pleomorphic_sarcoma
c.1_2787del2787; p.0?; 13:47776050-47952208	bone; femur	malignant_fibrous_histiocytoma-pleomorphic_sarcoma
c.1_2787del2787; p.0?; 13:47776050-47952208	bone; pelvis	malignant_fibrous_histiocytoma-pleomorphic_sarcoma
c.1_2787del2787; p.0?; 13:47776050-47952208	bone; femur	malignant_fibrous_histiocytoma-pleomorphic_sarcoma
c.1_2787del2787; p.0?; 13:47776050-47952208	bone; femur	malignant_fibrous_histiocytoma-pleomorphic_sarcoma
c.1_2787del2787; p.0?; 13:47776050-47952208	bone; tibia	malignant_fibrous_histiocytoma-pleomorphic_sarcoma
c.1_2787del2787; p.0?; 13:47776050-47952208	soft_tissue; fibrous_tissue_and_uncertain_o	gastrointestinal_stromal_tumour
c.1_2787del2787; p.0?; 13:47776050-47952208	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.515_516delTA; p.Y173fs*11; 13:47819976-47819977	eye	retinoblastoma
c.2391_2392insA; p.R798fs*17; 13:47937407-47937408	eye	retinoblastoma
c.803_804delAA; p.N269fs*1; 13:47835036-47835037	pancreas	carcinoma; small_cell_carcinoma
c.861+2T>A; p.?; 13:47835096-47835096	pancreas	carcinoma; small_cell_carcinoma
c.1216-2A>G; p.?; 13:47849053-47849053	pancreas	carcinoma; small_cell_carcinoma
c.2228_2238del11; p.L743fs*1; 13:47937151-47937161	pancreas	carcinoma; large_cell_neuroendocrine_carcinoma
c.868_869insA; p.N290fs*20; 13:47837037-47837038	pancreas	carcinoma; large_cell_neuroendocrine_carcinoma
c.1318G>T; p.E440*; 13:47849157-47849157	lung	carcinoma; adenocarcinoma
c.649C>T; p.Q217*; 13:47832195-47832195	lung	carcinoma; adenocarcinoma
c.1689G>A; p.W563*; 13:47853574-47853574	lung	carcinoma; adenocarcinoma
c.235G>T; p.E79*; 13:47779514-47779514	lung	carcinoma; adenocarcinoma
c.1017_1039del23; p.D340fs*5; 13:47839708-47839730	lung	carcinoma; adenocarcinoma
c.264+2T>C; p.?; 13:47779545-47779545	lung	carcinoma; adenocarcinoma
c.?_?del28; p.?fs;	breast	carcinoma
c.2107-1G>A; p.?; 13:47935867-47935867	lung	carcinoma; adenocarcinoma
c.1_2787del2787; p.0?; 13:47776050-47952208	bone; femur	chondrosarcoma; central
c.?; p.E79K;	skin	malignant_melanoma
c.2053C>T; p.Q685*; 13:47931917-47931917	eye; retina	retinoblastoma
c.2106+2T>G; p.?;	eye; retina	retinoblastoma
c.1900T>C; p.S634P;	eye; retina	retinoblastoma
c.1818T>A; p.Y606*;	soft_tissue; fat	liposarcoma; pleomorphic
c.?; p.Q504*;	breast	other; phyllodes_tumour
c.?; p.K740*;	breast	other; phyllodes_tumour
c.?; p.Q685fs*11;	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.?; p.S758*;	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.1050-1G>C; p.?;	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.?; p.Q62*;	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.?; p.W195*;	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.719_1215del497; p.?;	eye; retina	retinoblastoma
c.1499_1695del197; p.?;	eye; retina	retinoblastoma
c.1961_2211del251; p.?;	eye; retina	retinoblastoma
c.1_2787del2787; p.0?; 13:47776050-47952208	eye; retina	retinoblastoma
c.2106+1G>A; p.?;	lung	carcinoma; small_cell_carcinoma
c.1215+1G>T; p.?; 13:47845630-47845630	lung	carcinoma; small_cell_carcinoma
c.364delA; p.N123fs*2;	liver	carcinoma; hepatocellular_carcinoma
c.2077G>T; p.E693*;	breast	carcinoma; lobular_carcinoma
c.1789C>T; p.Q597*;	NS	NS
c.2486C>G; p.S829*;	lung	carcinoma; small_cell_carcinoma
c.1345G>C; p.G449R;	lung	carcinoma; small_cell_carcinoma
c.1332G>T; p.Q444H; 13:47849171-47849171	lung	carcinoma; small_cell_carcinoma
c.1106delT; p.P370fs*10;	lung	carcinoma; small_cell_carcinoma
c.2594G>T; p.G865V;	large_intestine; colon	carcinoma; adenocarcinoma
c.1942T>A; p.S648T;	large_intestine; colon	carcinoma; adenocarcinoma
c.1303G>T; p.G435*;	lung	carcinoma; small_cell_carcinoma
c.381-2A>T; p.?;	lung	carcinoma; small_cell_carcinoma
c.265-2A>T; p.?;	lung	carcinoma; small_cell_carcinoma
c.751C>T; p.R251*; 13:47834984-47834984	lung	carcinoma; small_cell_carcinoma
c.785delG; p.I263fs*1;	lung	carcinoma; small_cell_carcinoma
c.2184C>A; p.Y728*;	lung	carcinoma; adenocarcinoma
c.2077delG; p.E693fs*3; 13:47931941-47931941	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.769_773delCAGAA; p.N258fs*11; 13:47835002-47835006	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma
c.234G>A; p.W78*; 13:47779513-47779513	lung	carcinoma; small_cell_carcinoma
c.2113_2121delATGTGTTCC; p.C706_M708delCSM;	lung	carcinoma; small_cell_carcinoma
c.441_442insC; p.M148fs*9;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.?; p.Q93*;	NS	malignant_melanoma
c.1981C>T; p.R661W; 13:47931845-47931845	pancreas	carcinoma; acinar_carcinoma
c.1128-2A>T; p.?;	pancreas	carcinoma; acinar_carcinoma
c.1442delT; p.H483fs*12;	pancreas	carcinoma; acinar_carcinoma
c.608-1G>A; p.?;	urinary_tract; bladder	carcinoma
c.649C>T; p.Q217*; 13:47832195-47832195	urinary_tract; bladder	carcinoma
c.2293A>T; p.K765*;	urinary_tract; bladder	carcinoma
c.2489+1G>C; p.?;	urinary_tract; bladder	carcinoma
c.1030C>T; p.Q344*; 13:47839721-47839721	urinary_tract; bladder	carcinoma
c.2171T>A; p.I724N;	urinary_tract; bladder	carcinoma
c.1215+1G>A; p.?; 13:47845630-47845630	urinary_tract; bladder	carcinoma
c.1318G>A; p.E440K;	urinary_tract; bladder	carcinoma
c.1901C>G; p.S634*;	urinary_tract; bladder	carcinoma
c.1463C>T; p.A488V;	urinary_tract; bladder	carcinoma
c.1695+1G>T; p.?;	urinary_tract; bladder	carcinoma
c.1468G>T; p.A490S;	liver	carcinoma
c.1469C>T; p.A490V;	liver	carcinoma
c.1163T>G; p.I388S; 13:47845577-47845577	breast	carcinoma; basal_(triple-negative)_carcinoma
c.1544C>T; p.P515L; 13:47853429-47853429	breast	carcinoma; basal_(triple-negative)_carcinoma
c.265_607del343; p.?; 13:47814736-47821160	breast	carcinoma; basal_(triple-negative)_carcinoma
c.2183A>G; p.Y728C; 13:47935944-47935944	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1666C>T; p.R556*; 13:47853551-47853551	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.265-1G>A; p.?; 13:47814735-47814735	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.225G>A; p.W75*; 13:47779504-47779504	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1325delG; p.G442fs*15; 13:47849164-47849164	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2212-1G>A; p.?; 13:47937134-47937134	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1346delG; p.G449fs*8; 13:47851744-47851744	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2465delC; p.P822fs*4; 13:47937481-47937481	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1961-1G>A; p.?; 13:47931824-47931824	cervix	carcinoma
c.367A>G; p.N123D; 13:47814838-47814838	ovary	carcinoma
c.1738G>T; p.E580*;	NS	NS
c.1411C>T; p.Q471*; 13:47852211-47852211	skin	malignant_melanoma; acral_lentiginous
c.1261G>A; p.D421N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.2107_2211del105; p.I703_E737del35; 13:47935868-47935972	prostate	carcinoma; adenocarcinoma
c.2143A>T; p.K715*; 13:47935904-47935904	prostate	carcinoma; adenocarcinoma
c.2143A>T; p.K715*; 13:47935904-47935904	prostate	carcinoma; adenocarcinoma
c.2143A>T; p.K715*; 13:47935904-47935904	prostate	carcinoma; adenocarcinoma
c.1_2787del2787; p.0?; 13:47776050-47952208	breast	carcinoma; luminal_NS_carcinoma
c.1833A>T; p.R611S;	oesophagus	carcinoma; adenocarcinoma
c.2604T>C; p.P868P;	oesophagus	carcinoma; adenocarcinoma
c.1363C>T; p.R455*; 13:47851761-47851761	skin	malignant_melanoma
c.596T>A; p.L199*; 13:47821149-47821149	skin	malignant_melanoma
c.1363C>T; p.R455*; 13:47851761-47851761	skin	malignant_melanoma
c.596T>A; p.L199*; 13:47821149-47821149	skin	malignant_melanoma
c.1363C>T; p.R455*; 13:47851761-47851761	skin	malignant_melanoma
c.596T>A; p.L199*; 13:47821149-47821149	skin	malignant_melanoma
c.450A>T; p.R150S;	stomach	carcinoma; adenocarcinoma
c.2664-10T>A; p.?;	stomach	carcinoma; adenocarcinoma
c.2117G>T; p.C706F; 13:47935878-47935878	lung	carcinoma; small_cell_carcinoma
c.1700C>A; p.S567*; 13:47925134-47925134	lung	carcinoma; small_cell_carcinoma
c.2242G>T; p.E748*; 13:47937165-47937165	lung	carcinoma; small_cell_carcinoma
c.2242G>T; p.E748*; 13:47937165-47937165	lung	carcinoma; small_cell_carcinoma
c.2244delG; p.E748fs*6; 13:47937167-47937167	liver	carcinoma; hepatocellular_carcinoma
c.540-2_551delagGATATCTACTGA; p.?;	liver	carcinoma; hepatocellular_carcinoma
c.2212_2325del114; p.T738_R775del38; 13:47937135-47937248	breast	carcinoma; basal_(triple-negative)_carcinoma
c.409G>T; p.E137*; 13:47817245-47817245	large_intestine; colon	carcinoma; adenocarcinoma
c.1498+2_1498+20del19; p.?;	liver	carcinoma
c.1581delT; p.Y529fs*3; 13:47853466-47853466	liver	carcinoma
c.2107-1_2109delgATT; p.?;	liver	carcinoma
c.2224_2226GTT>ATG; p.V742M;	lung	carcinoma; adenocarcinoma
c.769C>T; p.Q257*;	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma
c.2107-2A>G; p.?; 13:47935866-47935866	urinary_tract; bladder	carcinoma
c.2107-2A>G; p.?; 13:47935866-47935866	urinary_tract; bladder	carcinoma
c.2234A>T; p.K745I;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.929G>A; p.G310E;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1915C>T; p.Q639*;	lung	carcinoma; adenocarcinoma
c.1980_1983delCCGG; p.R661fs*1; 13:47931844-47931847	lung	carcinoma; small_cell_carcinoma
c.138-1G>T; p.?;	lung	carcinoma; adenocarcinoma
c.465delT; p.Y155fs*1;	lung	carcinoma; adenocarcinoma
c.770A>G; p.Q257R;	lung	carcinoma; adenocarcinoma
c.2173_2174insTT; p.T726fs*1;	lung	carcinoma; adenocarcinoma
c.1696-2A>G; p.?;	lung	carcinoma; adenocarcinoma
c.2314G>T; p.A772S;	lung	carcinoma; adenocarcinoma
c.1980_1983delCCGG; p.R661fs*1; 13:47931844-47931847	lung	carcinoma; small_cell_carcinoma
c.2330delC; p.P777fs*33; 13:47937346-47937346	lung	carcinoma; small_cell_carcinoma
c.2307_2308GC>TT; p.L769_Q770>F*; 13:47937230-47937231	lung	carcinoma; small_cell_carcinoma
c.245C>A; p.S82*; 13:47779524-47779524	lung	carcinoma; giant_cell_carcinoma
c.2092A>T; p.R698W; 13:47931956-47931956	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma
c.607_608ins107; p.G203fs*8;	breast	carcinoma
c.265_2787del2523; p.?; 13:47814736-47952208	breast	carcinoma; basal_(triple-negative)_carcinoma
c.607_608ins227; p.G203fs*9;	breast	carcinoma; basal_(triple-negative)_carcinoma
c.234G>A; p.W78*; 13:47779513-47779513	skin; trunk	malignant_melanoma
c.1960G>A; p.V654M;	skin; trunk	malignant_melanoma
c.2117G>T; p.C706F; 13:47935878-47935878	lung	carcinoma; small_cell_carcinoma
c.2117G>T; p.C706F; 13:47935878-47935878	lung	carcinoma; small_cell_carcinoma
c.2110A>G; p.M704V; 13:47935871-47935871	ovary	carcinoma
c.2392C>T; p.R798W; 13:47937408-47937408	ovary	carcinoma
c.1909C>T; p.Q637*;	pancreas	carcinoma; ductal_carcinoma
c.1076_1080delAAAGT; p.S360fs*2;	breast	carcinoma
c.1031_1043del13; p.D346fs*17;	NS	NS
c.1215+1G>A; p.?; 13:47845630-47845630	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2028_2040del13; p.L676fs*16; 13:47931892-47931904	lung	carcinoma; small_cell_carcinoma
c.539C>T; p.S180L;	liver	carcinoma
c.1463C>A; p.A488E;	liver	carcinoma
c.1499-1G>C; p.?;	liver	carcinoma
c.2036delT; p.I679fs*17;	liver	carcinoma
c.1654C>T; p.R552*; 13:47853539-47853539	liver	carcinoma
c.1183C>T; p.Q395*; 13:47845597-47845597	lung	carcinoma; small_cell_carcinoma
c.964G>T; p.E322*;	lung	carcinoma; small_cell_carcinoma
c.1961-1delg; p.?;	lung	carcinoma; small_cell_carcinoma
c.1962G>T; p.V654V;	lung	carcinoma; small_cell_carcinoma
c.584delG; p.W195fs*1;	lung	carcinoma; small_cell_carcinoma
c.1362C>G; p.Y454*;	lung	carcinoma; small_cell_carcinoma
c.1575C>T; p.A525A;	lung	carcinoma; small_cell_carcinoma
c.1577_1578TT>AA; p.F526*;	lung	carcinoma; small_cell_carcinoma
c.1571_1578delAAGCCTTT; p.K524fs*28;	lung	carcinoma; small_cell_carcinoma
c.265-1G>T; p.?; 13:47814735-47814735	lung	carcinoma; small_cell_carcinoma
c.555delA; p.N186fs*6;	lung	carcinoma; small_cell_carcinoma
c.596T>G; p.L199*;	lung	carcinoma; small_cell_carcinoma
c.1318G>T; p.E440*; 13:47849157-47849157	lung	carcinoma; small_cell_carcinoma
c.649C>T; p.Q217*; 13:47832195-47832195	lung	carcinoma; small_cell_carcinoma
c.1422-2A>T; p.?;	lung	carcinoma; small_cell_carcinoma
c.1735C>T; p.R579*; 13:47925169-47925169	lung	carcinoma; small_cell_carcinoma
c.380+2T>A; p.?;	lung	carcinoma; small_cell_carcinoma
c.1389+1G>T; p.?;	lung	carcinoma; small_cell_carcinoma
c.2106+1G>T; p.?;	lung	carcinoma; small_cell_carcinoma
c.2214A>G; p.T738T;	lung	carcinoma; small_cell_carcinoma
c.2212-2A>T; p.?;	lung	carcinoma; small_cell_carcinoma
c.751C>T; p.R251*; 13:47834984-47834984	lung	carcinoma; mixed_small_cell_carcinoma-adenocarcinoma
c.2687_2689delAAT; p.K896_F897>I; 13:47949515-47949517	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.2077delG; p.E693fs*3; 13:47931941-47931941	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.622A>G; p.M208V; 13:47832168-47832168	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.473T>C; p.L158S; 13:47817309-47817309	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.1981C>T; p.R661W; 13:47931845-47931845	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.413T>G; p.I138S; 13:47817249-47817249	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.2031delA; p.E677fs*19; 13:47931895-47931895	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.2381G>T; p.S794I; 13:47937397-47937397	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.1389+72G>T; p.?; 13:47851859-47851859	lung	carcinoma; adenocarcinoma
c.1695+2T>C; p.?; 13:47853582-47853582	lung	carcinoma; squamous_cell_carcinoma
c.2018A>C; p.H673P; 13:47931882-47931882	lung	carcinoma; mixed_adenosquamous_carcinoma
c.2422_2440del19; p.P808fs*12; 13:47937438-47937456	bone	osteosarcoma; osteoblastic
c.1399C>T; p.R467*; 13:47852199-47852199	bone	osteosarcoma; osteoblastic
c.1861C>A; p.R621S; 13:47928387-47928387	pituitary	adenoma; ACTH-FSH-GH-LH-PRL
c.982A>C; p.N328H; 13:47839673-47839673	eye; retina	retinoblastoma
c.1834T>C; p.S612P; 13:47928360-47928360	prostate	carcinoma; adenocarcinoma
c.559T>A; p.S187T; 13:47821112-47821112	prostate	carcinoma; adenocarcinoma
c.773delA; p.N258fs*6; 13:47835006-47835006	prostate	carcinoma; adenocarcinoma
c.1537_1538delTC; p.S513fs*9; 13:47853422-47853423	prostate	carcinoma; adenocarcinoma
c.719_724delAAACAG; p.K240_A242>T; 13:47834952-47834957	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.160G>T; p.E54*; 13:47779439-47779439	eye; retina	retinoblastoma
c.341C>A; p.S114*; 13:47814812-47814812	eye; retina	retinoblastoma
c.751C>T; p.R251*; 13:47834984-47834984	eye; retina	retinoblastoma
c.1072C>T; p.R358*; 13:47840686-47840686	eye; retina	retinoblastoma
c.1333C>T; p.R445*; 13:47851731-47851731	eye; retina	retinoblastoma
c.377T>G; p.I126S; 13:47814848-47814848	eye; retina	retinoblastoma
c.2152G>A; p.D718N; 13:47935913-47935913	eye; retina	retinoblastoma
c.1389+1G>C; p.?; 13:47851788-47851788	eye; retina	retinoblastoma
c.1167_1174delAAATTCAG; p.L389fs*3; 13:47845581-47845588	liver	carcinoma; hepatocellular_carcinoma
c.229delA; p.T77fs*34; 13:47779508-47779508	liver	carcinoma; hepatocellular_carcinoma
c.1216-2A>G; p.?; 13:47849053-47849053	eye; retina	retinoblastoma
c.370_371delAT; p.I124fs*6; 13:47814841-47814842	eye; retina	retinoblastoma
c.1333C>T; p.R445*; 13:47851731-47851731	eye; retina	retinoblastoma
c.1654C>T; p.R552*; 13:47853539-47853539	eye; retina	retinoblastoma
c.1666C>T; p.R556*; 13:47853551-47853551	eye; retina	retinoblastoma
c.1215+1G>A; p.?; 13:47845630-47845630	eye; retina	retinoblastoma
c.2065_2066ins100; p.Q689fs; 13:47931929-47931930	eye; retina	retinoblastoma
c.1215+1G>A; p.?; 13:47845630-47845630	eye; retina	retinoblastoma
c.2158A>T; p.K720*; 13:47935919-47935919	eye; retina	retinoblastoma
c.409G>T; p.E137*; 13:47817245-47817245	eye; retina	retinoblastoma
c.958C>T; p.R320*; 13:47839649-47839649	eye; retina	retinoblastoma
c.1735C>T; p.R579*; 13:47925169-47925169	eye; retina	retinoblastoma
c.1654C>T; p.R552*; 13:47853539-47853539	eye; retina	retinoblastoma
c.184C>T; p.Q62*; 13:47779463-47779463	eye; retina	retinoblastoma
c.1960+1G>A; p.?; 13:47928487-47928487	eye; retina	retinoblastoma
c.409G>T; p.E137*; 13:47817245-47817245	eye; retina	retinoblastoma
c.1735_1744del10; p.R579fs*29; 13:47925169-47925178	eye; retina	retinoblastoma
c.1363C>T; p.R455*; 13:47851761-47851761	eye; retina	retinoblastoma
c.1447_1448delCA; p.H483fs*9; 13:47852327-47852328	eye; retina	retinoblastoma
c.958C>T; p.R320*; 13:47839649-47839649	eye; retina	retinoblastoma
c.2084delT; p.M695fs*10; 13:47931948-47931948	eye; retina	retinoblastoma
c.336_340delGATGT; p.E112fs*6; 13:47814807-47814811	eye; retina	retinoblastoma
c.958C>T; p.R320*; 13:47839649-47839649	eye; retina	retinoblastoma
c.1666C>T; p.R556*; 13:47853551-47853551	eye; retina	retinoblastoma
c.751C>T; p.R251*; 13:47834984-47834984	eye; retina	retinoblastoma
c.958C>T; p.R320*; 13:47839649-47839649	eye; retina	retinoblastoma
c.1585_1586insT; p.Y529fs*26; 13:47853470-47853471	eye; retina	retinoblastoma
c.1723_1726delCAAT; p.S576fs*34; 13:47925157-47925160	eye; retina	retinoblastoma
c.380+1G>T; p.?; 13:47814852-47814852	eye; retina	retinoblastoma
c.1816_1817insT; p.Y606fs*47; 13:47928342-47928343	eye; retina	retinoblastoma
c.227delT; p.L76fs*1; 13:47779506-47779506	eye; retina	retinoblastoma
c.1072C>T; p.R358*; 13:47840686-47840686	eye; retina	retinoblastoma
c.1494T>A; p.Y498*; 13:47852374-47852374	eye; retina	retinoblastoma
c.2244_2245ins8; p.E748fs;	eye; retina	retinoblastoma
c.2107_2211del105; p.I703_E737del35; 13:47935868-47935972	ovary	carcinoma; endometrioid_carcinoma
c.2520delG; p.T841fs*8; 13:47945527-47945527	eye; retina	retinoblastoma
c.1960+2T>C; p.?; 13:47928488-47928488	eye; retina	retinoblastoma
c.2244delG; p.E748fs*6; 13:47937167-47937167	eye; retina	retinoblastoma
c.1049+1G>T; p.?; 13:47839741-47839741	eye; retina	retinoblastoma
c.1504_1510ACATCTC>21; p.T502fs*22; 13:47853389-47853395	eye; retina	retinoblastoma
c.1363C>T; p.R455*; 13:47851761-47851761	eye; retina	retinoblastoma
c.210_211insG; p.R71fs*39; 13:47779489-47779490	eye; retina	retinoblastoma
c.1236delA; p.E413fs*4; 13:47849075-47849075	eye; retina	retinoblastoma
c.1467C>A; p.C489*; 13:47852347-47852347	eye; retina	retinoblastoma
c.1166T>A; p.L389*; 13:47845580-47845580	eye; retina	retinoblastoma
c.2310_2311insT; p.Y771fs*24; 13:47937233-47937234	eye; retina	retinoblastoma
c.1416_1417insAAA; p.N472_F473insK; 13:47852216-47852217	eye; retina	retinoblastoma
c.1939_1940delCT; p.L647fs*5; 13:47928465-47928466	eye; retina	retinoblastoma
c.2261T>G; p.V754G; 13:47937184-47937184	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2495delT; p.L832fs*1; 13:47945502-47945502	lung	carcinoma; small_cell_carcinoma
c.2346delA; p.P783fs*27; 13:47937362-47937362	lung	carcinoma; small_cell_carcinoma
c.2160_2161insT; p.K722fs*29; 13:47935921-47935922	lung	carcinoma; small_cell_carcinoma
c.2051delT; p.F684fs*12; 13:47931915-47931915	lung	carcinoma; small_cell_carcinoma
c.1452_1453delGT; p.M484fs*8; 13:47852332-47852333	lung	carcinoma; small_cell_carcinoma
c.2133_2180del48; p.C712_A727del16; 13:47935894-47935941	lung	carcinoma; small_cell_carcinoma
c.2261T>G; p.V754G; 13:47937184-47937184	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.380+10C>G; p.?; 13:47814861-47814861	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.2517C>T; p.F839F; 13:47945524-47945524	central_nervous_system; brain	glioma; astrocytoma_Grade_III
c.769_773delCAGAA; p.N258fs*11; 13:47835002-47835006	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2491delA; p.?fs; 13:47945496-47945497	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2520+3GA>AT; p.?; 13:47945530-47945530	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1980_1983delCCGG; p.R661fs*1; 13:47931844-47931847	lung	carcinoma; small_cell_carcinoma
c.2490_2520del31; p.I831fs*8; 13:47945497-47945527	lung	carcinoid-endocrine_tumour; atypical
c.1332G>T; p.Q444H; 13:47849171-47849171	soft_tissue; fibrous_tissue_and_uncertain_o	malignant_fibrous_histiocytoma-pleomorphic_sarcoma; mixed
c.2326-2A>C; p.?; 13:47937340-47937340	soft_tissue; fibrous_tissue_and_uncertain_o	malignant_fibrous_histiocytoma-pleomorphic_sarcoma; myxoid
c.648delT; p.Q217fs*2; 13:47832194-47832194	soft_tissue; fibrous_tissue_and_uncertain_o	malignant_fibrous_histiocytoma-pleomorphic_sarcoma; storiform_pleomorphic
c.1960_1961ins17; p.V654fs*6;	soft_tissue; fibrous_tissue_and_uncertain_o	malignant_fibrous_histiocytoma-pleomorphic_sarcoma; storiform_pleomorphic
c.1216_1237del22; p.N406fs*4; 13:47849055-47849076	eye; retina	retinoblastoma
c.42C>T; p.A14A; 13:47776091-47776091	eye; retina	retinoblastoma
c.1939_1940delCT; p.L647fs*5; 13:47928465-47928466	eye; retina	retinoblastoma
c.1072C>T; p.R358*; 13:47840686-47840686	eye; retina	retinoblastoma
c.1363C>T; p.R455*; 13:47851761-47851761	eye; retina	retinoblastoma
c.500+2delt; p.?; 13:47817338-47817338	eye; retina	retinoblastoma
c.484_485TT>C; p.F162fs*13; 13:47817320-47817321	eye; retina	retinoblastoma
c.2520+3_2520+6delgagt; p.?; 13:47945530-47945533	eye; retina	retinoblastoma
c.958C>T; p.R320*; 13:47839649-47839649	eye; retina	retinoblastoma
c.1183C>T; p.Q395*; 13:47845597-47845597	eye; retina	retinoblastoma
c.1666C>T; p.R556*; 13:47853551-47853551	eye; retina	retinoblastoma
c.401_404delTACT; p.L134fs*1; 13:47817237-47817240	eye; retina	retinoblastoma
c.1654C>T; p.R552*; 13:47853539-47853539	eye; retina	retinoblastoma
c.967G>T; p.E323*; 13:47839658-47839658	eye; retina	retinoblastoma
c.1438_1439insA; p.N480fs*13; 13:47852318-47852319	eye; retina	retinoblastoma
c.1215+1G>A; p.?; 13:47845630-47845630	eye; retina	retinoblastoma
c.1215+1G>A; p.?; 13:47845630-47845630	eye; retina	retinoblastoma
c.2212-27delCTACTTTTACAT; p.?; 13:47937108-47937119	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2212-23delTTTTACAT; p.?; 13:47937112-47937119	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II
c.958C>T; p.R320*; 13:47839649-47839649	eye; retina	retinoblastoma
c.1735C>T; p.R579*; 13:47925169-47925169	eye; retina	retinoblastoma
c.1735C>T; p.R579*; 13:47925169-47925169	eye; retina	retinoblastoma
c.2063T>C; p.L688P; 13:47931927-47931927	eye; retina	retinoblastoma
c.763C>T; p.R255*; 13:47834996-47834996	eye; retina	retinoblastoma
c.958C>T; p.R320*; 13:47839649-47839649	eye; retina	retinoblastoma
c.975T>G; p.Y325*; 13:47839666-47839666	eye; retina	retinoblastoma
c.1215+1G>A; p.?; 13:47845630-47845630	eye; retina	retinoblastoma
c.2326-2A>C; p.?; 13:47937340-47937340	eye; retina	retinoblastoma
c.1215+1G>A; p.?; 13:47845630-47845630	bone; tibia	osteosarcoma
c.1499-1G>T; p.?; 13:47853383-47853383	bone; tibia	osteosarcoma; chondroblastic
c.1499-1G>T; p.?; 13:47853383-47853383	bone; tibia	osteosarcoma; chondroblastic
c.1421G>A; p.S474N; 13:47852221-47852221	eye; retina	retinoblastoma
c.1970T>C; p.L657P;	breast	carcinoma; basal_(triple-negative)_carcinoma
c.585G>A; p.W195*;	breast	carcinoma; basal_(triple-negative)_carcinoma
c.2102_2106+8delACCAAgtaagaaa; p.?;	breast	carcinoma; basal_(triple-negative)_carcinoma
c.1960delG; p.V654fs*4;	breast	carcinoma; basal_(triple-negative)_carcinoma
c.2239G>T; p.E747*;	breast	carcinoma; basal_(triple-negative)_carcinoma
c.346_349delACTT; p.T116fs*8; 13:47814817-47814820	central_nervous_system; brain	glioma
c.1072C>T; p.R358*; 13:47840686-47840686	eye; retina	retinoblastoma
c.1072C>T; p.R358*; 13:47840686-47840686	eye; retina	retinoblastoma
c.265-2A>C; p.?; 13:47814734-47814734	eye; retina	retinoblastoma
c.1961-1G>A; p.?; 13:47931824-47931824	eye; retina	retinoblastoma
c.?; p.E280?;	lung	carcinoma; non_small_cell_carcinoma
c.1975T>C; p.Y659H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.2326-1G>A; p.?;	prostate	carcinoma
c.2359C>T; p.R787*; 13:47937375-47937375	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2359C>T; p.R787*; 13:47937375-47937375	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>A; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2104C>T; p.Q702*; 13:47931968-47931968	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1814+2T>C; p.?; 13:47925250-47925250	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1814+2T>C; p.?; 13:47925250-47925250	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.799_836del38; p.L267fs*3; 13:47835032-47835069	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1272C>A; p.Y424*; 13:47849111-47849111	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1862G>C; p.R621P;	ovary	carcinoma; serous_carcinoma
c.1684G>C; p.A562P;	ovary	carcinoma; serous_carcinoma
c.2091C>G; p.D697E;	lung	carcinoma; adenocarcinoma
c.2267A>G; p.Y756C;	lung	carcinoma; adenocarcinoma
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.751C>T; p.R251*; 13:47834984-47834984	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.751C>T; p.R251*; 13:47834984-47834984	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1976A>T; p.Y659F; 13:47931840-47931840	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1976A>T; p.Y659F; 13:47931840-47931840	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1961-1G>T; p.?; 13:47931824-47931824	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1961-1G>T; p.?; 13:47931824-47931824	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1183C>T; p.Q395*; 13:47845597-47845597	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1183C>T; p.Q395*; 13:47845597-47845597	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2490-1G>C; p.?; 13:47945496-47945496	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2490-1G>C; p.?; 13:47945496-47945496	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1960G>C; p.V654L; 13:47928486-47928486	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1770T>C; p.C590C; 13:47925204-47925204	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.151G>T; p.E51*; 13:47779430-47779430	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.791C>T; p.A264V;	ovary	carcinoma; serous_carcinoma
c.1319delA; p.I441fs*16;	ovary	carcinoma; serous_carcinoma
c.2359C>T; p.R787*; 13:47937375-47937375	ovary	carcinoma; serous_carcinoma
c.1421+2T>G; p.?;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1981C>T; p.R661W; 13:47931845-47931845	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2104C>A; p.Q702K; 13:47931968-47931968	ovary	carcinoma; serous_carcinoma
c.2390_2406del17; p.L797fs*1; 13:47937406-47937422	ovary	carcinoma; serous_carcinoma
c.203A>G; p.D68G;	lung	carcinoma; squamous_cell_carcinoma
c.958C>T; p.R320*; 13:47839649-47839649	ovary	carcinoma; serous_carcinoma
c.1656_1671del16; p.C553fs*53; 13:47853541-47853556	ovary	carcinoma; serous_carcinoma
c.2288G>C; p.R763T;	ovary	carcinoma; serous_carcinoma
c.1574delC; p.F526fs*6;	ovary	carcinoma; serous_carcinoma
c.1216-1G>C; p.?; 13:47849054-47849054	ovary	carcinoma; serous_carcinoma
c.1723C>T; p.Q575*;	ovary	carcinoma; serous_carcinoma
c.1215+1G>A; p.?; 13:47845630-47845630	ovary	carcinoma; serous_carcinoma
c.265-2A>G; p.?;	lung	carcinoma; squamous_cell_carcinoma
c.380+2T>G; p.?;	lung	carcinoma; squamous_cell_carcinoma
c.1498A>T; p.R500*;	lung	carcinoma; adenocarcinoma
c.184C>T; p.Q62*; 13:47779463-47779463	ovary	carcinoma; serous_carcinoma
c.264G>T; p.L88F;	lung	carcinoma; squamous_cell_carcinoma
c.380G>T; p.S127I; 13:47814851-47814851	lung	carcinoma; squamous_cell_carcinoma
c.1901C>G; p.S634*;	lung	carcinoma; squamous_cell_carcinoma
c.1814+2T>A; p.?;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.1328C>G; p.S443*;	lung; right_lower_lobe	carcinoma; adenocarcinoma
c.1351C>T; p.R451C;	lung	carcinoma; squamous_cell_carcinoma
c.1927A>T; p.K643*;	lung	carcinoma; squamous_cell_carcinoma
c.1333-2A>G; p.?;	lung	carcinoma; squamous_cell_carcinoma
c.1192_1193GA>TT; p.E398L;	lung	carcinoma; adenocarcinoma
c.1030C>T; p.Q344*; 13:47839721-47839721	lung	carcinoma; adenocarcinoma
c.861+1G>A; p.?;	lung; right_lower_lobe	carcinoma; adenocarcinoma
c.1001G>A; p.R334K;	breast	carcinoma
c.2486C>G; p.S829*;	breast	carcinoma
c.1050-2A>T; p.?;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.1399C>T; p.R467*; 13:47852199-47852199	endometrium	carcinoma; endometrioid_carcinoma
c.2143A>G; p.K715E;	large_intestine; colon	carcinoma; adenocarcinoma
c.752G>A; p.R251Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.1544C>T; p.P515L; 13:47853429-47853429	large_intestine; colon	carcinoma; adenocarcinoma
c.1666C>T; p.R556*; 13:47853551-47853551	large_intestine; colon	carcinoma; adenocarcinoma
c.2183A>G; p.Y728C; 13:47935944-47935944	large_intestine; colon	carcinoma; adenocarcinoma
c.152A>G; p.E51G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1836T>C; p.S612S;	large_intestine; caecum	carcinoma; adenocarcinoma
c.410A>G; p.E137G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2152G>A; p.D718N; 13:47935913-47935913	large_intestine; colon	carcinoma; adenocarcinoma
c.1668A>G; p.R556R;	large_intestine; colon	carcinoma; adenocarcinoma
c.485T>C; p.F162S;	large_intestine; colon	carcinoma; adenocarcinoma
c.2094G>T; p.R698S;	large_intestine; colon	carcinoma; adenocarcinoma
c.561T>C; p.S187S;	large_intestine; colon	carcinoma; adenocarcinoma
c.2118T>C; p.C706C;	large_intestine; colon	carcinoma; adenocarcinoma
c.1467C>G; p.C489W;	large_intestine; colon	carcinoma; adenocarcinoma
c.498A>G; p.E166E;	large_intestine; colon	carcinoma; adenocarcinoma
c.2590G>T; p.E864*;	breast	carcinoma
c.1818T>G; p.Y606*;	breast	carcinoma
c.1363C>A; p.R455R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1820T>C; p.L607P;	large_intestine; colon	carcinoma; adenocarcinoma
c.2054A>G; p.Q685R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1768T>C; p.C590R;	large_intestine; colon	carcinoma; adenocarcinoma
c.964G>A; p.E322K;	large_intestine; colon	carcinoma; adenocarcinoma
c.1499-1G>T; p.?; 13:47853383-47853383	large_intestine; colon	carcinoma; adenocarcinoma
c.561T>C; p.S187S;	large_intestine; colon	carcinoma; adenocarcinoma
c.1736G>T; p.R579L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1333C>T; p.R445*; 13:47851731-47851731	large_intestine; colon	carcinoma; adenocarcinoma
c.1163T>C; p.I388T;	large_intestine; colon	carcinoma; adenocarcinoma
c.1687T>C; p.W563R;	large_intestine; colon	carcinoma; adenocarcinoma
c.2359C>A; p.R787R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1334G>T; p.R445L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1990A>G; p.T664A;	large_intestine; colon	carcinoma; adenocarcinoma
c.2107A>T; p.I703F;	large_intestine; colon	carcinoma; adenocarcinoma
c.1667G>A; p.R556Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.786G>A; p.R262R;	large_intestine; colon	carcinoma; adenocarcinoma
c.838G>T; p.E280*;	large_intestine; colon	carcinoma; adenocarcinoma
c.195G>T; p.K65N;	large_intestine; colon	carcinoma; adenocarcinoma
c.373G>T; p.E125*;	large_intestine; colon	carcinoma; adenocarcinoma
c.162A>G; p.E54E;	large_intestine; colon	carcinoma; adenocarcinoma
c.1954delA; p.V654fs*4; 13:47928480-47928480	large_intestine; colon	carcinoma; adenocarcinoma
c.1666C>T; p.R556*; 13:47853551-47853551	large_intestine; colon	carcinoma; adenocarcinoma
c.2092A>G; p.R698G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1598A>G; p.E533G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2118T>C; p.C706C;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1271A>G; p.Y424C;	large_intestine; rectum	NS
c.982A>G; p.N328D;	large_intestine; rectum	NS
c.1688G>T; p.W563L;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1770T>C; p.C590C; 13:47925204-47925204	large_intestine; rectum	carcinoma; adenocarcinoma
c.2063T>C; p.L688P; 13:47931927-47931927	large_intestine; rectum	carcinoma; adenocarcinoma
c.2083A>G; p.M695V;	large_intestine; rectum	NS
c.838G>T; p.E280*;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1351C>T; p.R451C;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1344T>G; p.L448L;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1185A>G; p.Q395Q;	large_intestine; rectum	carcinoma; adenocarcinoma
c.2153A>G; p.D718G;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1654C>T; p.R552*; 13:47853539-47853539	breast	carcinoma
c.712C>T; p.P238S;	endometrium	carcinoma; endometrioid_carcinoma
c.370_371delAT; p.I124fs*6; 13:47814841-47814842	endometrium	carcinoma; endometrioid_carcinoma
c.2263T>A; p.F755I;	endometrium	carcinoma; endometrioid_carcinoma
c.815G>T; p.R272I;	endometrium	carcinoma; endometrioid_carcinoma
c.853A>G; p.I285V;	endometrium	carcinoma; endometrioid_carcinoma
c.1352G>A; p.R451H;	endometrium	carcinoma; endometrioid_carcinoma
c.2273C>T; p.S758L;	endometrium	carcinoma; endometrioid_carcinoma
c.644C>G; p.S215*;	breast	carcinoma
c.651G>A; p.Q217Q;	large_intestine	carcinoma; adenocarcinoma
c.959G>T; p.R320L;	large_intestine	carcinoma; adenocarcinoma
c.1977T>C; p.Y659Y;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2359C>T; p.R787*; 13:47937375-47937375	large_intestine; caecum	carcinoma; adenocarcinoma
c.1318G>A; p.E440K;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1333C>T; p.R445*; 13:47851731-47851731	large_intestine; caecum	carcinoma; adenocarcinoma
c.958C>T; p.R320*; 13:47839649-47839649	endometrium	carcinoma; endometrioid_carcinoma
c.2489+2T>A; p.?;	endometrium	carcinoma; endometrioid_carcinoma
c.1318G>A; p.E440K;	endometrium	carcinoma; endometrioid_carcinoma
c.409G>T; p.E137*; 13:47817245-47817245	endometrium	carcinoma; endometrioid_carcinoma
c.873T>C; p.V291V;	endometrium	carcinoma; endometrioid_carcinoma
c.440C>T; p.A147V;	endometrium	carcinoma; endometrioid_carcinoma
c.2570G>A; p.R857H;	endometrium	carcinoma; endometrioid_carcinoma
c.1333C>T; p.R445*; 13:47851731-47851731	large_intestine; caecum	carcinoma; adenocarcinoma
c.1820T>C; p.L607P;	large_intestine; caecum	carcinoma; adenocarcinoma
c.153A>G; p.E51E;	large_intestine; colon	carcinoma; adenocarcinoma
c.472T>C; p.L158L;	large_intestine; colon	carcinoma; adenocarcinoma
c.982A>G; p.N328D;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1545A>G; p.P515P;	large_intestine; caecum	carcinoma; adenocarcinoma
c.181T>A; p.C61S;	large_intestine; caecum	carcinoma; adenocarcinoma
c.184C>A; p.Q62K;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1499-2A>T; p.?;	large_intestine; colon	carcinoma; adenocarcinoma
c.1687T>C; p.W563R;	large_intestine; colon	carcinoma; adenocarcinoma
c.161A>G; p.E54G;	large_intestine; colon	carcinoma; adenocarcinoma
c.785G>A; p.R262Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.1185A>G; p.Q395Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.1861C>T; p.R621C;	large_intestine; colon	carcinoma; adenocarcinoma
c.1687T>C; p.W563R;	large_intestine; colon	carcinoma; adenocarcinoma
c.2709A>G; p.E903E;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.282G>T; p.K94N;	endometrium	carcinoma; endometrioid_carcinoma
c.1860G>A; p.T620T;	endometrium	carcinoma; endometrioid_carcinoma
c.1463C>T; p.A488V;	endometrium	carcinoma; endometrioid_carcinoma
c.443T>C; p.M148T;	endometrium	carcinoma; endometrioid_carcinoma
c.2169C>A; p.I723I;	endometrium	carcinoma; endometrioid_carcinoma
c.1860G>A; p.T620T;	endometrium	carcinoma; endometrioid_carcinoma
c.2617A>G; p.K873E;	breast	carcinoma
c.287A>G; p.K96R;	endometrium	carcinoma; endometrioid_carcinoma
c.210_211insAG; p.A74fs*4;	breast	carcinoma
c.757delC; p.R254fs*10;	breast	carcinoma
c.277C>T; p.Q93*;	breast	carcinoma
c.644C>A; p.S215*; 13:47832190-47832190	breast	carcinoma
c.1960G>A; p.V654M;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.2360G>A; p.R787Q;	endometrium	carcinoma; endometrioid_carcinoma
c.2284C>T; p.Q762*;	endometrium	carcinoma; endometrioid_carcinoma
c.2626C>T; p.R876C;	endometrium	carcinoma; endometrioid_carcinoma
c.1237G>T; p.E413*;	endometrium	carcinoma; endometrioid_carcinoma
c.1633G>T; p.E545*;	endometrium	carcinoma; endometrioid_carcinoma
c.184C>T; p.Q62*; 13:47779463-47779463	urinary_tract; bladder	carcinoma
c.2548C>T; p.Q850*; 13:47948865-47948865	urinary_tract; bladder	carcinoma
c.2594G>T; p.G865V;	urinary_tract; bladder	carcinoma
c.1598A>G; p.E533G;	large_intestine; colon	carcinoma; adenocarcinoma
c.390A>C; p.K130N;	large_intestine; colon	carcinoma; adenocarcinoma
c.1351C>T; p.R451C;	large_intestine; colon	carcinoma; adenocarcinoma
c.2169C>A; p.I723I;	large_intestine; colon	carcinoma; adenocarcinoma
c.2393G>T; p.R798L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1975T>C; p.Y659H;	large_intestine; rectum	carcinoma; adenocarcinoma
c.151G>T; p.E51*; 13:47779430-47779430	large_intestine; rectum	carcinoma; adenocarcinoma
c.2153A>G; p.D718G;	large_intestine; rectum	carcinoma; adenocarcinoma
c.561T>C; p.S187S;	large_intestine; rectum	carcinoma; adenocarcinoma
c.2118T>C; p.C706C;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1185A>G; p.Q395Q;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1695+2T>A; p.?;	large_intestine; colon	carcinoma; adenocarcinoma
c.2092A>G; p.R698G;	large_intestine; colon	carcinoma; adenocarcinoma
c.765A>G; p.R255R;	large_intestine; colon	carcinoma; adenocarcinoma
c.2502A>G; p.S834S;	large_intestine; colon	carcinoma; adenocarcinoma
c.413T>C; p.I138T;	large_intestine; colon	carcinoma; adenocarcinoma
c.1165T>C; p.L389L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1184A>G; p.Q395R;	large_intestine; colon	carcinoma; adenocarcinoma
c.2143A>G; p.K715E;	large_intestine; colon	carcinoma; adenocarcinoma
c.2267A>G; p.Y756C;	large_intestine; caecum	carcinoma; adenocarcinoma
c.968A>G; p.E323G;	large_intestine; colon	carcinoma; adenocarcinoma
c.751C>T; p.R251*; 13:47834984-47834984	large_intestine; colon	carcinoma; adenocarcinoma
c.1333C>T; p.R445*; 13:47851731-47851731	large_intestine; colon	carcinoma; adenocarcinoma
c.2517C>T; p.F839F; 13:47945524-47945524	large_intestine; colon	carcinoma; adenocarcinoma
c.2153A>G; p.D718G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1960+2T>C; p.?; 13:47928488-47928488	large_intestine; colon	carcinoma; adenocarcinoma
c.1597G>T; p.E533*; 13:47853482-47853482	large_intestine; caecum	carcinoma; adenocarcinoma
c.380G>A; p.S127N;	large_intestine; caecum	carcinoma; adenocarcinoma
c.751C>T; p.R251*; 13:47834984-47834984	large_intestine; caecum	carcinoma; adenocarcinoma
c.1363C>T; p.R455*; 13:47851761-47851761	large_intestine; caecum	carcinoma; adenocarcinoma
c.962A>T; p.Y321F;	large_intestine; colon	carcinoma; adenocarcinoma
c.1499-1G>T; p.?; 13:47853383-47853383	large_intestine; colon	carcinoma; adenocarcinoma
c.2092A>G; p.R698G;	large_intestine; colon	carcinoma; adenocarcinoma
c.2267A>G; p.Y756C;	large_intestine; colon	carcinoma; adenocarcinoma
c.244T>C; p.S82P;	large_intestine; colon	carcinoma; adenocarcinoma
c.498A>G; p.E166E;	large_intestine; colon	carcinoma; adenocarcinoma
c.379A>G; p.S127G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1333C>T; p.R445*; 13:47851731-47851731	large_intestine; caecum	carcinoma; adenocarcinoma
c.1597G>A; p.E533K;	large_intestine; colon	carcinoma; adenocarcinoma
c.2182T>C; p.Y728H;	large_intestine; colon	carcinoma; adenocarcinoma
c.244T>C; p.S82P;	large_intestine; colon	carcinoma; adenocarcinoma
c.1072C>A; p.R358R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1598A>G; p.E533G;	large_intestine; colon	carcinoma; adenocarcinoma
c.236A>G; p.E79G;	large_intestine; colon	carcinoma; adenocarcinoma
c.2104C>A; p.Q702K; 13:47931968-47931968	large_intestine; colon	carcinoma; adenocarcinoma
c.1981C>T; p.R661W; 13:47931845-47931845	large_intestine; colon	carcinoma; adenocarcinoma
c.1493A>G; p.Y498C;	large_intestine; colon	carcinoma; adenocarcinoma
c.1596C>T; p.I532I;	endometrium	carcinoma; endometrioid_carcinoma
c.268G>A; p.G90S;	endometrium	carcinoma; endometrioid_carcinoma
c.2252C>A; p.S751Y;	endometrium	carcinoma; endometrioid_carcinoma
c.1215+1G>A; p.?; 13:47845630-47845630	endometrium	carcinoma; endometrioid_carcinoma
c.409G>T; p.E137*; 13:47817245-47817245	endometrium	carcinoma; endometrioid_carcinoma
c.1633G>T; p.E545*;	endometrium	carcinoma; endometrioid_carcinoma
c.1750G>T; p.D584Y;	endometrium	carcinoma; endometrioid_carcinoma
c.868A>C; p.N290H;	endometrium	carcinoma; endometrioid_carcinoma
c.246A>G; p.S82S;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2092A>G; p.R698G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1667G>A; p.R556Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.2326-2A>G; p.?;	large_intestine; colon	carcinoma; adenocarcinoma
c.450A>G; p.R150R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1073G>A; p.R358Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.959G>T; p.R320L;	large_intestine; colon	carcinoma; adenocarcinoma
c.2579A>G; p.K860R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1318G>A; p.E440K;	large_intestine; colon	carcinoma; adenocarcinoma
c.377T>C; p.I126T;	large_intestine; colon	carcinoma; adenocarcinoma
c.484T>A; p.F162I;	large_intestine; colon	carcinoma; adenocarcinoma
c.967G>T; p.E323*; 13:47839658-47839658	large_intestine; colon	carcinoma; adenocarcinoma
c.1863T>C; p.R621R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1544C>T; p.P515L; 13:47853429-47853429	large_intestine; colon	carcinoma; adenocarcinoma
c.1333C>T; p.R445*; 13:47851731-47851731	large_intestine; caecum	carcinoma; adenocarcinoma
c.411A>G; p.E137E;	large_intestine; colon	carcinoma; adenocarcinoma
c.968A>G; p.E323G;	large_intestine; colon	carcinoma; adenocarcinoma
c.2106A>G; p.Q702Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.412A>G; p.I138V;	large_intestine; colon	carcinoma; adenocarcinoma
c.1836T>A; p.S612S;	large_intestine; colon	carcinoma; adenocarcinoma
c.962A>G; p.Y321C;	large_intestine; colon	carcinoma; adenocarcinoma
c.765A>G; p.R255R;	large_intestine; colon	carcinoma; adenocarcinoma
c.244T>C; p.S82P;	large_intestine; colon	carcinoma; adenocarcinoma
c.152A>G; p.E51G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2026_2027insTAGAACA; p.I679fs*15;	breast	carcinoma
c.258A>G; p.G86G;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1696-2A>G; p.?;	endometrium	carcinoma; endometrioid_carcinoma
c.1654C>T; p.R552*; 13:47853539-47853539	urinary_tract; bladder	carcinoma
c.2153A>G; p.D718G;	large_intestine; colon	carcinoma; adenocarcinoma
c.161A>G; p.E54G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.162A>G; p.E54E;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1499-2A>T; p.?;	large_intestine; caecum	carcinoma; adenocarcinoma
c.753A>G; p.R251R;	large_intestine; colon	carcinoma; adenocarcinoma
c.224G>T; p.W75L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1167A>T; p.L389F;	large_intestine; colon	carcinoma; adenocarcinoma
c.1834T>C; p.S612P; 13:47928360-47928360	large_intestine; colon	carcinoma; adenocarcinoma
c.233G>T; p.W78L;	large_intestine; colon	carcinoma; adenocarcinoma
c.2053C>T; p.Q685*; 13:47931917-47931917	large_intestine; caecum	carcinoma; adenocarcinoma
c.752G>T; p.R251L;	large_intestine; caecum	carcinoma; adenocarcinoma
c.764G>A; p.R255Q;	large_intestine; rectum	carcinoma; adenocarcinoma
c.969A>G; p.E323E;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1318G>A; p.E440K;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1648T>A; p.L550I;	breast	carcinoma
c.1650delA; p.E551fs*60;	breast	carcinoma
c.1494T>C; p.Y498Y;	breast	carcinoma
c.1363C>T; p.R455*; 13:47851761-47851761	breast	carcinoma
c.2144A>G; p.K715R;	large_intestine; rectum	carcinoma; adenocarcinoma
c.963C>T; p.Y321Y;	prostate	carcinoma; adenocarcinoma
c.676T>C; p.F226L;	prostate	carcinoma; adenocarcinoma
c.2408_2415delACATCTAT; p.I804fs*8;	breast	carcinoma
c.2053C>T; p.Q685*; 13:47931917-47931917	large_intestine; colon	carcinoma; adenocarcinoma
c.2107-2A>T; p.?;	large_intestine; colon	carcinoma; adenocarcinoma
c.340T>C; p.S114P;	large_intestine; colon	carcinoma; adenocarcinoma
c.1163T>C; p.I388T;	large_intestine; rectum	carcinoma; adenocarcinoma
c.222T>C; p.A74A;	large_intestine; rectum	carcinoma; adenocarcinoma
c.233G>A; p.W78*;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1700C>T; p.S567L;	urinary_tract; bladder	carcinoma
c.1786C>G; p.L596V;	urinary_tract; bladder	carcinoma
c.2293A>T; p.K765*;	urinary_tract; bladder	carcinoma
c.2530A>T; p.K844*;	urinary_tract; bladder	carcinoma
c.2548C>T; p.Q850*; 13:47948865-47948865	urinary_tract; bladder	carcinoma
c.379A>T; p.S127C;	large_intestine; colon	carcinoma; adenocarcinoma
c.963C>T; p.Y321Y;	large_intestine; colon	carcinoma; adenocarcinoma
c.2361A>G; p.R787R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1318G>A; p.E440K;	large_intestine; colon	carcinoma; adenocarcinoma
c.2183A>G; p.Y728C; 13:47935944-47935944	large_intestine; colon	carcinoma; adenocarcinoma
c.1333C>T; p.R445*; 13:47851731-47851731	large_intestine; colon	carcinoma; adenocarcinoma
c.1147C>A; p.Q383K;	large_intestine; colon	carcinoma; adenocarcinoma
c.1655G>T; p.R552L;	large_intestine; colon	carcinoma; adenocarcinoma
c.341C>T; p.S114L;	large_intestine; colon	carcinoma; adenocarcinoma
c.162A>G; p.E54E;	large_intestine; colon	carcinoma; adenocarcinoma
c.244T>C; p.S82P;	large_intestine; colon	carcinoma; adenocarcinoma
c.335A>G; p.E112G;	large_intestine; colon	carcinoma; adenocarcinoma
c.2092A>G; p.R698G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1770T>C; p.C590C; 13:47925204-47925204	large_intestine; colon	carcinoma; adenocarcinoma
c.1836T>C; p.S612S;	large_intestine; colon	carcinoma; adenocarcinoma
c.486C>G; p.F162L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1982G>T; p.R661L;	large_intestine; colon	carcinoma; adenocarcinoma
c.2118T>C; p.C706C;	large_intestine; colon	carcinoma; adenocarcinoma
c.1834T>C; p.S612P; 13:47928360-47928360	large_intestine; colon	carcinoma; adenocarcinoma
c.244T>C; p.S82P;	large_intestine; caecum	carcinoma; adenocarcinoma
c.958C>T; p.R320*; 13:47839649-47839649	large_intestine; caecum	carcinoma; adenocarcinoma
c.244T>C; p.S82P;	large_intestine; colon	carcinoma; adenocarcinoma
c.539+1G>A; p.?;	large_intestine; colon	carcinoma; adenocarcinoma
c.1688G>A; p.W563*;	large_intestine; colon	carcinoma; adenocarcinoma
c.160G>T; p.E54*; 13:47779439-47779439	large_intestine; colon	carcinoma; adenocarcinoma
c.1597G>A; p.E533K;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1620C>T; p.G540G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1735C>A; p.R579R;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2107-2A>G; p.?; 13:47935866-47935866	large_intestine; colon	carcinoma; adenocarcinoma
c.751C>T; p.R251*; 13:47834984-47834984	large_intestine; colon	carcinoma; adenocarcinoma
c.649C>T; p.Q217*; 13:47832195-47832195	urinary_tract; bladder	carcinoma
c.683A>G; p.K228R;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma
c.1318G>T; p.E440*; 13:47849157-47849157	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma
c.2359C>T; p.R787*; 13:47937375-47937375	prostate	carcinoma
c.289delG; p.E97fs*14;	prostate	carcinoma
c.289delG; p.E97fs*14;	prostate	carcinoma
c.2330delC; p.P777fs*33; 13:47937346-47937346	prostate	carcinoma
c.1190C>A; p.S397*;	central_nervous_system; brain	glioma; astrocytoma_Grade_II
c.751C>T; p.R251*; 13:47834984-47834984	skin	malignant_melanoma

PCGP germline mutation [Top]

PCGP somatic mutation [Top]

COSMIC somatic mutation [Top]