Entrez Gene

Basic Information
Gene ID	5925
Name	RB1
Synonymous	retinoblastoma 1;RB1;retinoblastoma 1
Definition	prepro-retinoblastoma-associated protein\|protein phosphatase 1, regulatory subunit 130\|retinoblastoma suspectibility protein\|retinoblastoma-associated protein
Position	13q14.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.400T>G; p.L134V; 13:48345099-48345099	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1411C>T; p.Q471*; 13:48380074-48380074	skin	malignant_melanoma; acral_lentiginous	Substitution - Nonsense
c.649C>T; p.Q217*; 13:48360058-48360058	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.649C>T; p.Q217*; 13:48360058-48360058	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.649C>T; p.Q217*; 13:48360058-48360058	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1726_1729delTCAA; p.S576fs*34; 13:48453023-48453026	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - Frameshift
c.472T>C; p.L158L; 13:48345171-48345171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.649C>T; p.Q217*; 13:48360058-48360058	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.649C>T; p.Q217*; 13:48360058-48360058	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.649C>T; p.Q217*; 13:48360058-48360058	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2244delG; p.E748fs*6; 13:48465030-48465030	eye; retina	retinoblastoma	Deletion - Frameshift
c.2244delG; p.E748fs*6; 13:48465030-48465030	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.2496_2497delAG; p.L832fs*5; 13:48473366-48473367	eye; retina	retinoblastoma	Deletion - Frameshift
c.615A>G; p.V205V; 13:48360024-48360024	skin	malignant_melanoma	Substitution - coding silent
c.2187delG; p.D730fs*14; 13:48463811-48463811	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1448A>G; p.H483R; 13:48380191-48380191	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.157G>A; p.E53K; 13:48307299-48307299	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.967G>T; p.E323*; 13:48367521-48367521	eye; retina	retinoblastoma	Substitution - Nonsense
c.967G>T; p.E323*; 13:48367521-48367521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.967G>T; p.E323*; 13:48367521-48367521	prostate	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1654C>T; p.R552*; 13:48381402-48381402	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1654C>T; p.R552*; 13:48381402-48381402	eye; retina	retinoblastoma	Substitution - Nonsense
c.1654C>T; p.R552*; 13:48381402-48381402	liver	carcinoma	Substitution - Nonsense
c.235G>T; p.E79*; 13:48307377-48307377	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.962A>G; p.Y321C; 13:48367516-48367516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1463C>A; p.A488E; 13:48380206-48380206	liver	carcinoma	Substitution - Missense
c.1654C>T; p.R552*; 13:48381402-48381402	eye; retina	retinoblastoma	Substitution - Nonsense
c.1654C>T; p.R552*; 13:48381402-48381402	breast	carcinoma	Substitution - Nonsense
c.1654C>T; p.R552*; 13:48381402-48381402	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1391delA; p.E465fs*13; 13:48380054-48380054	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1352G>A; p.R451H; 13:48379613-48379613	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.335A>G; p.E112G; 13:48342669-48342669	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1654C>T; p.R552*; 13:48381402-48381402	eye; retina	retinoblastoma	Substitution - Nonsense
c.1654C>T; p.R552*; 13:48381402-48381402	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.648delT; p.Q217fs*2; 13:48360057-48360057	soft_tissue; fibrous_tissue_and_uncertain_o	malignant_fibrous_histiocytoma-pleomorphic_sarcoma; storiform_pleomorphic	Deletion - Frameshift
c.203A>G; p.D68G; 13:48307345-48307345	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.753A>G; p.R251R; 13:48362849-48362849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2212-2A>T; p.?; 13:48464996-48464996	lung	carcinoma; small_cell_carcinoma	Unknown
c.341C>T; p.S114L; 13:48342675-48342675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1216_1237del22; p.N406fs*4; 13:48376918-48376939	eye; retina	retinoblastoma	Deletion - Frameshift
c.364delA; p.N123fs*2; 13:48342698-48342698	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.2336T>A; p.L779*; 13:48465215-48465215	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1735_1744del10; p.R579fs*29; 13:48453032-48453041	eye; retina	retinoblastoma	Deletion - Frameshift
c.1976A>T; p.Y659F; 13:48459703-48459703	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.264+1G>C; p.?; 13:48307407-48307407	urinary_tract; bladder	carcinoma	Unknown
c.1976A>T; p.Y659F; 13:48459703-48459703	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2390_2406del17; p.L797fs*1; 13:48465269-48465285	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1237G>T; p.E413*; 13:48376939-48376939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1738G>T; p.E580*; 13:48453035-48453035	fallopian_tube	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2051delT; p.F684fs*12; 13:48459778-48459778	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2158A>T; p.K720*; 13:48463782-48463782	eye; retina	retinoblastoma	Substitution - Nonsense
c.2489+1G>C; p.?; 13:48465369-48465369	urinary_tract; bladder	carcinoma	Unknown
c.2326-2A>C; p.?; 13:48465203-48465203	eye; retina	retinoblastoma	Unknown
c.2326-2A>C; p.?; 13:48465203-48465203	soft_tissue; fibrous_tissue_and_uncertain_o	malignant_fibrous_histiocytoma-pleomorphic_sarcoma; myxoid	Unknown
c.470T>C; p.V157A; 13:48345169-48345169	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.861+1G>T; p.?; 13:48362958-48362958	breast	other; fibroadenoma	Unknown
c.470T>C; p.V157A; 13:48345169-48345169	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2489+1G>C; p.?; 13:48465369-48465369	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.2489+1G>C; p.?; 13:48465369-48465369	urinary_tract; bladder	carcinoma	Unknown
c.452T>C; p.L151P; 13:48345151-48345151	oesophagus	carcinoma	Substitution - Missense
c.1128-2A>T; p.?; 13:48373403-48373403	pancreas	carcinoma; acinar_carcinoma	Unknown
c.1106delT; p.P370fs*10; 13:48368583-48368583	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.585G>A; p.W195*; 13:48349001-48349001	skin; scalp	carcinoma; Merkel_cell_carcinoma	Substitution - Nonsense
c.380+2T>A; p.?; 13:48342716-48342716	lung	carcinoma; small_cell_carcinoma	Unknown
c.2107A>T; p.I703F; 13:48463731-48463731	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.585G>A; p.W195*; 13:48349001-48349001	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.265-2A>C; p.?; 13:48342597-48342597	eye; retina	retinoblastoma	Unknown
c.585G>A; p.W195*; 13:48349001-48349001	skin	malignant_melanoma	Substitution - Nonsense
c.1344T>G; p.L448L; 13:48379605-48379605	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1363C>A; p.R455R; 13:48379624-48379624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.379A>T; p.S127C; 13:48342713-48342713	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1666C>T; p.R556*; 13:48381414-48381414	eye; retina	retinoblastoma	Substitution - Nonsense
c.1666C>T; p.R556*; 13:48381414-48381414	skin	malignant_melanoma	Substitution - Nonsense
c.1666C>T; p.R556*; 13:48381414-48381414	eye; retina	retinoblastoma	Substitution - Nonsense
c.1666C>T; p.R556*; 13:48381414-48381414	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1499-2A>T; p.?; 13:48381245-48381245	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1666C>T; p.R556*; 13:48381414-48381414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1666C>T; p.R556*; 13:48381414-48381414	eye; retina	retinoblastoma	Substitution - Nonsense
c.1666C>T; p.R556*; 13:48381414-48381414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1666C>T; p.R556*; 13:48381414-48381414	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1499-2A>T; p.?; 13:48381245-48381245	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.958C>T; p.R320*; 13:48367512-48367512	eye; retina	retinoblastoma	Substitution - Nonsense
c.958C>T; p.R320*; 13:48367512-48367512	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.958C>T; p.R320*; 13:48367512-48367512	eye; retina	retinoblastoma	Substitution - Nonsense
c.958C>T; p.R320*; 13:48367512-48367512	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.958C>T; p.R320*; 13:48367512-48367512	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.958C>T; p.R320*; 13:48367512-48367512	eye; retina	retinoblastoma	Substitution - Nonsense
c.1325delG; p.G442fs*15; 13:48377027-48377027	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.718+3A>T; p.?; 13:48360130-48360130	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Unknown
c.2065_2066ins100; p.Q689fs; 13:48459792-48459793	eye; retina	retinoblastoma	Insertion - Frameshift
c.958C>T; p.R320*; 13:48367512-48367512	eye; retina	retinoblastoma	Substitution - Nonsense
c.958C>T; p.R320*; 13:48367512-48367512	eye; retina	retinoblastoma	Substitution - Nonsense
c.958C>T; p.R320*; 13:48367512-48367512	eye; retina	retinoblastoma	Substitution - Nonsense
c.2182T>C; p.Y728H; 13:48463806-48463806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.958C>T; p.R320*; 13:48367512-48367512	eye; retina	retinoblastoma	Substitution - Nonsense
c.2212-1G>C; p.?; 13:48464997-48464997	oesophagus	carcinoma	Unknown
c.958C>T; p.R320*; 13:48367512-48367512	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1598A>G; p.E533G; 13:48381346-48381346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2240_2241delAG; p.E747fs*3; 13:48465026-48465027	eye; retina	retinoblastoma	Deletion - Frameshift
c.1816_1817insT; p.Y606fs*47; 13:48456205-48456206	eye; retina	retinoblastoma	Insertion - Frameshift
c.498A>G; p.E166E; 13:48345197-48345197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.498A>G; p.E166E; 13:48345197-48345197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.555delA; p.N186fs*6; 13:48348971-48348971	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1598A>G; p.E533G; 13:48381346-48381346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1598A>G; p.E533G; 13:48381346-48381346	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.982A>C; p.N328H; 13:48367536-48367536	eye; retina	retinoblastoma	Substitution - Missense
c.608-1G>A; p.?; 13:48360016-48360016	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.2363G>A; p.S788N; 13:48465242-48465242	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.608-1G>A; p.?; 13:48360016-48360016	urinary_tract; bladder	carcinoma	Unknown
c.2107-2A>T; p.?; 13:48463729-48463729	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.441_442insC; p.M148fs*9; 13:48345140-48345141	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.2212_2325del114; p.T738_R775del38; 13:48464998-48465111	breast	carcinoma; basal_(triple-negative)_carcinoma	Deletion - In frame
c.1961-1G>T; p.?; 13:48459687-48459687	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2258_2259insT; p.V754fs*4; 13:48465044-48465045	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.450A>T; p.R150S; 13:48345149-48345149	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2565C>T; p.S855S; 13:48476745-48476745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1961-1G>T; p.?; 13:48459687-48459687	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1334G>T; p.R445L; 13:48379595-48379595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1814+2T>C; p.?; 13:48453113-48453113	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1596C>T; p.I532I; 13:48381344-48381344	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.379A>G; p.S127G; 13:48342713-48342713	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2590G>T; p.E864*; 13:48476770-48476770	breast	carcinoma	Substitution - Nonsense
c.959G>T; p.R320L; 13:48367513-48367513	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1964_1965insCCT; p.Y655_R656insL; 13:48459691-48459692	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - In frame
c.2307_2308GC>TT; p.L769_Q770>F*; 13:48465093-48465094	lung	carcinoma; small_cell_carcinoma	Complex - compound substitution
c.2381G>T; p.S794I; 13:48465260-48465260	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.959G>T; p.R320L; 13:48367513-48367513	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1382T>C; p.L461P; 13:48379643-48379643	skin	malignant_melanoma	Substitution - Missense
c.1467C>A; p.C489*; 13:48380210-48380210	eye; retina	retinoblastoma	Substitution - Nonsense
c.1163T>G; p.I388S; 13:48373440-48373440	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.561T>C; p.S187S; 13:48348977-48348977	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.561T>C; p.S187S; 13:48348977-48348977	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.963C>T; p.Y321Y; 13:48367517-48367517	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1346delG; p.G449fs*8; 13:48379607-48379607	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.561T>C; p.S187S; 13:48348977-48348977	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.963C>T; p.Y321Y; 13:48367517-48367517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1768T>C; p.C590R; 13:48453065-48453065	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.181delT; p.C61fs*4; 13:48307323-48307323	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1818T>G; p.Y606*; 13:48456207-48456207	breast	carcinoma	Substitution - Nonsense
c.1786C>G; p.L596V; 13:48453083-48453083	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1499-2A>G; p.?; 13:48381245-48381245	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2092A>G; p.R698G; 13:48459819-48459819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2092A>G; p.R698G; 13:48459819-48459819	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2092A>G; p.R698G; 13:48459819-48459819	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2092A>G; p.R698G; 13:48459819-48459819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2092A>G; p.R698G; 13:48459819-48459819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.222T>C; p.A74A; 13:48307364-48307364	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.539C>T; p.S180L; 13:48347863-48347863	liver	carcinoma	Substitution - Missense
c.559T>A; p.S187T; 13:48348975-48348975	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.380+1G>T; p.?; 13:48342715-48342715	eye; retina	retinoblastoma	Unknown
c.1363C>T; p.R455*; 13:48379624-48379624	skin	malignant_melanoma	Substitution - Nonsense
c.757delC; p.R254fs*10; 13:48362853-48362853	breast	carcinoma	Deletion - Frameshift
c.1363C>T; p.R455*; 13:48379624-48379624	skin	malignant_melanoma	Substitution - Nonsense
c.1363C>T; p.R455*; 13:48379624-48379624	skin	malignant_melanoma	Substitution - Nonsense
c.1363C>T; p.R455*; 13:48379624-48379624	skin	malignant_melanoma	Substitution - Nonsense
c.1363C>T; p.R455*; 13:48379624-48379624	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Nonsense
c.1363C>T; p.R455*; 13:48379624-48379624	eye; retina	retinoblastoma	Substitution - Nonsense
c.1363C>T; p.R455*; 13:48379624-48379624	eye; retina	retinoblastoma	Substitution - Nonsense
c.1363C>T; p.R455*; 13:48379624-48379624	breast	carcinoma	Substitution - Nonsense
c.1363C>T; p.R455*; 13:48379624-48379624	eye; retina	retinoblastoma	Substitution - Nonsense
c.1574delC; p.F526fs*6; 13:48381322-48381322	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.236A>G; p.E79G; 13:48307378-48307378	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1363C>T; p.R455*; 13:48379624-48379624	liver	carcinoma	Substitution - Nonsense
c.1363C>T; p.R455*; 13:48379624-48379624	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2559T>A; p.C853*; 13:48476739-48476739	breast	carcinoma	Substitution - Nonsense
c.2143A>G; p.K715E; 13:48463767-48463767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1049+1G>T; p.?; 13:48367604-48367604	eye; retina	retinoblastoma	Unknown
c.2408_2415delACATCTAT; p.I804fs*8; 13:48465287-48465294	breast	carcinoma	Deletion - Frameshift
c.2143A>G; p.K715E; 13:48463767-48463767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.969A>C; p.E323D; 13:48367523-48367523	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1770T>C; p.C590C; 13:48453067-48453067	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.607+1G>A; p.?; 13:48349024-48349024	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.607+1G>A; p.?; 13:48349024-48349024	oesophagus	carcinoma	Unknown
c.607+1G>A; p.?; 13:48349024-48349024	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.264G>T; p.L88F; 13:48307406-48307406	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2391_2392insA; p.R798fs*17; 13:48465270-48465271	eye	retinoblastoma	Insertion - Frameshift
c.868A>C; p.N290H; 13:48364900-48364900	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1770T>C; p.C590C; 13:48453067-48453067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4C>T; p.P2S; 13:48303916-48303916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2036delT; p.I679fs*17; 13:48459763-48459763	liver	carcinoma	Deletion - Frameshift
c.2517C>T; p.F839F; 13:48473387-48473387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2517C>T; p.F839F; 13:48473387-48473387	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - coding silent
c.265_607del343; p.?; 13:48342599-48349023	breast	carcinoma; basal_(triple-negative)_carcinoma	Unknown
c.2018A>C; p.H673P; 13:48459745-48459745	lung	carcinoma; mixed_adenosquamous_carcinoma	Substitution - Missense
c.2490-1G>C; p.?; 13:48473359-48473359	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.464_465insTGATG; p.L158fs*19; 13:48345163-48345164	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.786G>A; p.R262R; 13:48362882-48362882	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2626C>T; p.R876C; 13:48476806-48476806	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2364C>T; p.S788S; 13:48465243-48465243	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2106+1G>T; p.?; 13:48459834-48459834	lung	carcinoma; small_cell_carcinoma	Unknown
c.1723_1726delCAAT; p.S576fs*34; 13:48453020-48453023	eye; retina	retinoblastoma	Deletion - Frameshift
c.1049+1G>A; p.?; 13:48367604-48367604	liver	carcinoma	Unknown
c.2261T>G; p.V754G; 13:48465047-48465047	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.153A>G; p.E51E; 13:48307295-48307295	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.853A>G; p.I285V; 13:48362949-48362949	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1049+1G>A; p.?; 13:48367604-48367604	liver	carcinoma	Unknown
c.2102_2106+8delACCAAGTAAGAAA; p.?; 13:48459829-48459841	breast	carcinoma; basal_(triple-negative)_carcinoma	Unknown
c.719_724delAAACAG; p.K240_A242>T; 13:48362815-48362820	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Complex - deletion inframe
c.2261T>G; p.V754G; 13:48465047-48465047	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.746C>G; p.S249*; 13:48362842-48362842	skin	malignant_melanoma	Substitution - Nonsense
c.1215+1G>A; p.?; 13:48373493-48373493	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.2489+1G>T; p.?; 13:48465369-48465369	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	eye; retina	retinoblastoma	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	urinary_tract; bladder	carcinoma	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	eye; retina	retinoblastoma	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	bone; tibia	osteosarcoma	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	urinary_tract; bladder	carcinoma	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	ovary	carcinoma; serous_carcinoma	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2263T>A; p.F755I; 13:48465049-48465049	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2489+1G>T; p.?; 13:48465369-48465369	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2495delT; p.L832fs*1; 13:48473365-48473365	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.785delG; p.I263fs*1; 13:48362881-48362881	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1960G>A; p.V654M; 13:48456349-48456349	skin; trunk	malignant_melanoma	Substitution - Missense
c.2023G>A; p.E675K; 13:48459750-48459750	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2183A>G; p.Y728C; 13:48463807-48463807	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2183A>G; p.Y728C; 13:48463807-48463807	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1049+3A>G; p.?; 13:48367606-48367606	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Unknown
c.2183A>G; p.Y728C; 13:48463807-48463807	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1960G>A; p.V654M; 13:48456349-48456349	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1190C>A; p.S397*; 13:48373467-48373467	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Nonsense
c.964G>T; p.E322*; 13:48367518-48367518	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1190C>A; p.S397*; 13:48373467-48373467	ovary	other; neoplasm	Substitution - Nonsense
c.162A>G; p.E54E; 13:48307304-48307304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.162A>G; p.E54E; 13:48307304-48307304	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.484T>A; p.F162I; 13:48345183-48345183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.162A>G; p.E54E; 13:48307304-48307304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1135A>T; p.M379L; 13:48373412-48373412	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1463C>T; p.A488V; 13:48380206-48380206	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1463C>T; p.A488V; 13:48380206-48380206	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1183C>T; p.Q395*; 13:48373460-48373460	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2152G>A; p.D718N; 13:48463776-48463776	eye; retina	retinoblastoma	Substitution - Missense
c.2570G>T; p.R857L; 13:48476750-48476750	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1463C>T; p.A488V; 13:48380206-48380206	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2028_2040del13; p.L676fs*16; 13:48459755-48459767	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1183C>T; p.Q395*; 13:48373460-48373460	eye; retina	retinoblastoma	Substitution - Nonsense
c.1463C>T; p.A488V; 13:48380206-48380206	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2152G>A; p.D718N; 13:48463776-48463776	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2031delA; p.E677fs*19; 13:48459758-48459758	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.1183C>T; p.Q395*; 13:48373460-48373460	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1818T>A; p.Y606*; 13:48456207-48456207	soft_tissue; fat	liposarcoma; pleomorphic	Substitution - Nonsense
c.596T>A; p.L199*; 13:48349012-48349012	skin	malignant_melanoma	Substitution - Nonsense
c.596T>A; p.L199*; 13:48349012-48349012	skin	malignant_melanoma	Substitution - Nonsense
c.596T>A; p.L199*; 13:48349012-48349012	skin	malignant_melanoma	Substitution - Nonsense
c.596T>A; p.L199*; 13:48349012-48349012	skin	malignant_melanoma	Substitution - Nonsense
c.969A>G; p.E323E; 13:48367523-48367523	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.450A>G; p.R150R; 13:48345149-48345149	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.342G>A; p.S114S; 13:48342676-48342676	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1468G>T; p.A490S; 13:48380211-48380211	liver	carcinoma	Substitution - Missense
c.1468G>T; p.A490S; 13:48380211-48380211	liver	carcinoma	Substitution - Missense
c.2239G>T; p.E747*; 13:48465025-48465025	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.413T>C; p.I138T; 13:48345112-48345112	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.380G>A; p.S127N; 13:48342714-48342714	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.377T>G; p.I126S; 13:48342711-48342711	eye; retina	retinoblastoma	Substitution - Missense
c.346_349delACTT; p.T116fs*8; 13:48342680-48342683	central_nervous_system; brain	glioma	Deletion - Frameshift
c.1467C>G; p.C489W; 13:48380210-48380210	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.764G>A; p.R255Q; 13:48362860-48362860	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1960+1G>A; p.?; 13:48456350-48456350	eye; retina	retinoblastoma	Unknown
c.2409_2410insATCT; p.I806fs*10; 13:48465288-48465289	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.764G>A; p.R255Q; 13:48362860-48362860	breast	carcinoma	Substitution - Missense
c.184C>A; p.Q62K; 13:48307326-48307326	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2003G>A; p.R668H; 13:48459730-48459730	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.268G>A; p.G90S; 13:48342602-48342602	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.229delA; p.T77fs*34; 13:48307371-48307371	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.2520delG; p.T841fs*8; 13:48473390-48473390	eye; retina	retinoblastoma	Deletion - Frameshift
c.2346A>G; p.I782M; 13:48465225-48465225	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1736G>T; p.R579L; 13:48453033-48453033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2604T>C; p.P868P; 13:48476784-48476784	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1216-2A>G; p.?; 13:48376916-48376916	eye; retina	retinoblastoma	Unknown
c.1216-2A>G; p.?; 13:48376916-48376916	pancreas	carcinoma	Unknown
c.52G>A; p.A18T; 13:48303964-48303964	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1216-2A>G; p.?; 13:48376916-48376916	pancreas	carcinoma	Unknown
c.1216-2A>G; p.?; 13:48376916-48376916	pancreas	carcinoma; small_cell_carcinoma	Unknown
c.1962G>T; p.V654V; 13:48459689-48459689	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1535T>A; p.L512*; 13:48381283-48381283	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.1332G>T; p.Q444H; 13:48377034-48377034	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1004T>G; p.L335*; 13:48367558-48367558	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1960+2T>C; p.?; 13:48456351-48456351	eye; retina	retinoblastoma	Unknown
c.1960+2T>C; p.?; 13:48456351-48456351	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1332G>T; p.Q444H; 13:48377034-48377034	soft_tissue; fibrous_tissue_and_uncertain_o	malignant_fibrous_histiocytoma-pleomorphic_sarcoma; mixed	Substitution - Missense
c.160G>T; p.E54*; 13:48307302-48307302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.540-2_551delAGGATATCTACTGA; p.?; 13:48348954-48348967	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.160G>T; p.E54*; 13:48307302-48307302	eye; retina	retinoblastoma	Substitution - Nonsense
c.152A>G; p.E51G; 13:48307294-48307294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.152A>G; p.E51G; 13:48307294-48307294	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2106A>G; p.Q702Q; 13:48459833-48459833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2465delC; p.P822fs*4; 13:48465344-48465344	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.2617A>G; p.K873E; 13:48476797-48476797	breast	carcinoma	Substitution - Missense
c.2709A>G; p.E903E; 13:48477400-48477400	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1939_1940delCT; p.L647fs*5; 13:48456328-48456329	eye; retina	retinoblastoma	Deletion - Frameshift
c.785G>A; p.R262Q; 13:48362881-48362881	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.712C>T; p.P238S; 13:48360121-48360121	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.785G>A; p.R262Q; 13:48362881-48362881	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1447_1448delCA; p.H483fs*9; 13:48380190-48380191	eye; retina	retinoblastoma	Deletion - Frameshift
c.1939_1940delCT; p.L647fs*5; 13:48456328-48456329	eye; retina	retinoblastoma	Deletion - Frameshift
c.1700C>T; p.S567L; 13:48452997-48452997	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2084delT; p.M695fs*10; 13:48459811-48459811	eye; retina	retinoblastoma	Deletion - Frameshift
c.2094G>T; p.R698S; 13:48459821-48459821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.289delG; p.E97fs*14; 13:48342623-48342623	prostate	carcinoma	Deletion - Frameshift
c.289delG; p.E97fs*14; 13:48342623-48342623	prostate	carcinoma	Deletion - Frameshift
c.1333C>T; p.R445*; 13:48379594-48379594	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	eye; retina	retinoblastoma	Substitution - Nonsense
c.1860G>A; p.T620T; 13:48456249-48456249	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1333C>T; p.R445*; 13:48379594-48379594	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2548C>T; p.Q850*; 13:48476728-48476728	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.299G>C; p.G100A; 13:48342633-48342633	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1333C>T; p.R445*; 13:48379594-48379594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.823G>T; p.E275*; 13:48362919-48362919	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2548C>T; p.Q850*; 13:48476728-48476728	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2384C>A; p.S795*; 13:48465263-48465263	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	eye; retina	retinoblastoma	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.962A>T; p.Y321F; 13:48367516-48367516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1333C>T; p.R445*; 13:48379594-48379594	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1333C>T; p.R445*; 13:48379594-48379594	eye; retina	retinoblastoma	Substitution - Nonsense
c.1860G>A; p.T620T; 13:48456249-48456249	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1499-2A>C; p.?; 13:48381245-48381245	lung	carcinoma; small_cell_carcinoma	Unknown
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; tibia	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; femur	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	eye; retina	retinoblastoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; pelvis	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	breast	carcinoma; luminal_NS_carcinoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; pelvis	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; pelvis	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.1700C>A; p.S567*; 13:48452997-48452997	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; pelvis	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; tibia	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; femur	chondrosarcoma; central	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	soft_tissue; fibrous_tissue_and_uncertain_o	gastrointestinal_stromal_tumour	Whole gene deletion
c.1982G>A; p.R661Q; 13:48459709-48459709	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; femur	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.1_2787del2787; p.0?; 13:48303913-48480071	bone; femur	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	Whole gene deletion
c.2118T>C; p.C706C; 13:48463742-48463742	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2118T>C; p.C706C; 13:48463742-48463742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2106+2T>G; p.?; 13:48459835-48459835	eye; retina	retinoblastoma	Unknown
c.2118T>C; p.C706C; 13:48463742-48463742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.539+1G>A; p.?; 13:48347864-48347864	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2118T>C; p.C706C; 13:48463742-48463742	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1494T>C; p.Y498Y; 13:48380237-48380237	breast	carcinoma	Substitution - coding silent
c.968A>G; p.E323G; 13:48367522-48367522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2664-10T>A; p.?; 13:48477345-48477345	stomach	carcinoma; adenocarcinoma	Unknown
c.968A>G; p.E323G; 13:48367522-48367522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.500+2delT; p.?; 13:48345201-48345201	eye; retina	retinoblastoma	Unknown
c.1050-1G>C; p.?; 13:48368526-48368526	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.1050-1G>C; p.?; 13:48368526-48368526	ovary	other; neoplasm	Unknown
c.769C>T; p.Q257*; 13:48362865-48362865	skin	malignant_melanoma	Substitution - Nonsense
c.1050-2A>T; p.?; 13:48368525-48368525	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.929G>A; p.G310E; 13:48364961-48364961	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2308C>T; p.Q770*; 13:48465094-48465094	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.171_172insT; p.T58fs*52; 13:48307313-48307314	eye; retina	retinoblastoma	Insertion - Frameshift
c.769C>T; p.Q257*; 13:48362865-48362865	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2083A>G; p.M695V; 13:48459810-48459810	large_intestine; rectum	NS	Substitution - Missense
c.1597G>A; p.E533K; 13:48381345-48381345	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2053C>T; p.Q685*; 13:48459780-48459780	eye; retina	retinoblastoma	Substitution - Nonsense
c.1597G>A; p.E533K; 13:48381345-48381345	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2053C>T; p.Q685*; 13:48459780-48459780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2053C>T; p.Q685*; 13:48459780-48459780	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.584delG; p.W195fs*1; 13:48349000-48349000	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.265_2787del2523; p.?; 13:48342599-48480071	breast	carcinoma; basal_(triple-negative)_carcinoma	Unknown
c.770A>G; p.Q257R; 13:48362866-48362866	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1577_1578TT>AA; p.F526*; 13:48381325-48381326	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1585_1586insT; p.Y529fs*26; 13:48381333-48381334	eye; retina	retinoblastoma	Insertion - Frameshift
c.1861C>A; p.R621S; 13:48456250-48456250	pituitary	adenoma; ACTH-FSH-GH-LH-PRL	Substitution - Missense
c.2329C>T; p.P777S; 13:48465208-48465208	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1861C>A; p.R621S; 13:48456250-48456250	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.200C>A; p.P67Q; 13:48307342-48307342	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2107-1G>A; p.?; 13:48463730-48463730	lung	carcinoma; adenocarcinoma	Unknown
c.1981C>T; p.R661W; 13:48459708-48459708	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2107_2211del105; p.I703_E737del35; 13:48463731-48463835	prostate	carcinoma; adenocarcinoma	Deletion - In frame
c.1981C>T; p.R661W; 13:48459708-48459708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1981C>T; p.R661W; 13:48459708-48459708	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1981C>T; p.R661W; 13:48459708-48459708	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1981C>T; p.R661W; 13:48459708-48459708	oesophagus	carcinoma	Substitution - Missense
c.1981C>T; p.R661W; 13:48459708-48459708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2107-1G>A; p.?; 13:48463730-48463730	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2107_2211del105; p.I703_E737del35; 13:48463731-48463835	ovary	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1498+2_1498+20del19; p.?; 13:48380243-48380261	liver	carcinoma	Unknown
c.2214A>G; p.T738T; 13:48465000-48465000	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2520+4A>G; p.?; 13:48473394-48473394	eye; retina	retinoblastoma	Unknown
c.151G>T; p.E51*; 13:48307293-48307293	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1834T>C; p.S612P; 13:48456223-48456223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.225G>A; p.W75*; 13:48307367-48307367	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.184C>T; p.Q62*; 13:48307326-48307326	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.225G>A; p.W75*; 13:48307367-48307367	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1834T>C; p.S612P; 13:48456223-48456223	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1834T>C; p.S612P; 13:48456223-48456223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.607+1G>T; p.?; 13:48349024-48349024	ovary	other; neoplasm	Unknown
c.184C>T; p.Q62*; 13:48307326-48307326	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.184C>T; p.Q62*; 13:48307326-48307326	eye; retina	retinoblastoma	Substitution - Nonsense
c.1442delT; p.H483fs*12; 13:48380185-48380185	pancreas	carcinoma; acinar_carcinoma	Deletion - Frameshift
c.1167_1174delAAATTCAG; p.L389fs*3; 13:48373444-48373451	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.225G>A; p.W75*; 13:48307367-48307367	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.184C>T; p.Q62*; 13:48307326-48307326	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.298G>A; p.G100R; 13:48342632-48342632	skin; upper_leg	carcinoma; Merkel_cell_carcinoma	Substitution - Missense
c.842_843insAT; p.H281fs*6; 13:48362938-48362939	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.515_516delTA; p.Y173fs*11; 13:48347839-48347840	eye	retinoblastoma	Deletion - Frameshift
c.2242G>T; p.E748*; 13:48465028-48465028	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1271A>G; p.Y424C; 13:48376973-48376973	large_intestine; rectum	NS	Substitution - Missense
c.2242G>T; p.E748*; 13:48465028-48465028	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.195G>T; p.K65N; 13:48307337-48307337	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.138-1G>T; p.?; 13:48307279-48307279	lung	carcinoma; adenocarcinoma	Unknown
c.411A>G; p.E137E; 13:48345110-48345110	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1499_1695del197; p.?; 13:48381247-48381443	eye; retina	retinoblastoma	Unknown
c.1696-2A>G; p.?; 13:48452991-48452991	lung	carcinoma; adenocarcinoma	Unknown
c.1696-2A>G; p.?; 13:48452991-48452991	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2486C>G; p.S829*; 13:48465365-48465365	breast	carcinoma	Substitution - Nonsense
c.1656_1671del16; p.C553fs*53; 13:48381404-48381419	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2486C>G; p.S829*; 13:48465365-48465365	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1165T>C; p.L389L; 13:48373442-48373442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1076_1080delAAAGT; p.S360fs*2; 13:48368553-48368557	breast	carcinoma	Deletion - Frameshift
c.1163T>C; p.I388T; 13:48373440-48373440	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1543C>T; p.P515S; 13:48381291-48381291	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1688G>T; p.W563L; 13:48381436-48381436	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.277C>T; p.Q93*; 13:48342611-48342611	breast	carcinoma	Substitution - Nonsense
c.2273C>T; p.S758L; 13:48465059-48465059	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1163T>C; p.I388T; 13:48373440-48373440	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1575C>T; p.A525A; 13:48381323-48381323	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.277C>T; p.Q93*; 13:48342611-48342611	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1684G>C; p.A562P; 13:48381432-48381432	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1753C>A; p.H585N; 13:48453050-48453050	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.373G>T; p.E125*; 13:48342707-48342707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.265-1G>A; p.?; 13:48342598-48342598	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.265-1G>A; p.?; 13:48342598-48342598	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.373G>T; p.E125*; 13:48342707-48342707	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.995A>G; p.D332G; 13:48367549-48367549	haematopoietic_and_lymphoid_tissue; skin	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Substitution - Missense
c.409G>T; p.E137*; 13:48345108-48345108	eye; retina	retinoblastoma	Substitution - Nonsense
c.409G>T; p.E137*; 13:48345108-48345108	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.409G>T; p.E137*; 13:48345108-48345108	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.409G>T; p.E137*; 13:48345108-48345108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.440C>T; p.A147V; 13:48345139-48345139	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.409G>T; p.E137*; 13:48345108-48345108	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.161A>G; p.E54G; 13:48307303-48307303	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.161A>G; p.E54G; 13:48307303-48307303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.409G>T; p.E137*; 13:48345108-48345108	eye; retina	retinoblastoma	Substitution - Nonsense
c.1215+1G>A; p.?; 13:48373493-48373493	eye; retina	retinoblastoma	Unknown
c.1215+1G>A; p.?; 13:48373493-48373493	eye; retina	retinoblastoma	Unknown
c.1859C>T; p.T620M; 13:48456248-48456248	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1215+1G>A; p.?; 13:48373493-48373493	eye; retina	retinoblastoma	Unknown
c.752G>A; p.R251Q; 13:48362848-48362848	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2491delA; p.?fs; 13:48473361-48473361	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1420_1421+30del; p.?; 13:48380083-48380084	eye; retina	retinoblastoma	Unknown
c.1504_1510ACATCTC>21; p.T502fs*22; 13:48381252-48381258	eye; retina	retinoblastoma	Complex - frameshift
c.1789C>T; p.Q597*; 13:48453086-48453086	skin; face	carcinoma; Merkel_cell_carcinoma	Substitution - Nonsense
c.1789C>T; p.Q597*; 13:48453086-48453086	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.2077delG; p.E693fs*3; 13:48459804-48459804	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.2212-27delCTACTTTTACAT; p.?; 13:48464971-48464982	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2077delG; p.E693fs*3; 13:48459804-48459804	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.2288G>C; p.R763T; 13:48465074-48465074	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.282G>T; p.K94N; 13:48342616-48342616	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.769_773delCAGAA; p.N258fs*11; 13:48362865-48362869	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Deletion - Frameshift
c.1215+1G>T; p.?; 13:48373493-48373493	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2346delA; p.P783fs*27; 13:48465225-48465225	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.769_773delCAGAA; p.N258fs*11; 13:48362865-48362869	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1215+1G>T; p.?; 13:48373493-48373493	lung	carcinoma; small_cell_carcinoma	Unknown
c.2325+1G>T; p.?; 13:48465112-48465112	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1318G>A; p.E440K; 13:48377020-48377020	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1318G>A; p.E440K; 13:48377020-48377020	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1318G>A; p.E440K; 13:48377020-48377020	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1318G>A; p.E440K; 13:48377020-48377020	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1318G>A; p.E440K; 13:48377020-48377020	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1318G>A; p.E440K; 13:48377020-48377020	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.939+1G>A; p.?; 13:48364972-48364972	breast	carcinoma	Unknown
c.676T>C; p.F226L; 13:48360085-48360085	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1318G>A; p.E440K; 13:48377020-48377020	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1318G>A; p.E440K; 13:48377020-48377020	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.265-1G>T; p.?; 13:48342598-48342598	lung	carcinoma; small_cell_carcinoma	Unknown
c.1030C>T; p.Q344*; 13:48367584-48367584	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1030C>T; p.Q344*; 13:48367584-48367584	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1216-1G>C; p.?; 13:48376917-48376917	ovary	carcinoma; serous_carcinoma	Unknown
c.1030C>T; p.Q344*; 13:48367584-48367584	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1030C>T; p.Q344*; 13:48367584-48367584	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1030C>T; p.Q344*; 13:48367584-48367584	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.509A>G; p.E170G; 13:48347833-48347833	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1216-1G>C; p.?; 13:48376917-48376917	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.791C>T; p.A264V; 13:48362887-48362887	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.644C>G; p.S215*; 13:48360053-48360053	breast	carcinoma	Substitution - Nonsense
c.1351C>T; p.R451C; 13:48379612-48379612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2169C>A; p.I723I; 13:48463793-48463793	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1351C>T; p.R451C; 13:48379612-48379612	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2169C>A; p.I723I; 13:48463793-48463793	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1255_1277>?; p.419fs*?; 13:48376957-48376979	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome	Unknown
c.181T>A; p.C61S; 13:48307323-48307323	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1351C>T; p.R451C; 13:48379612-48379612	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.964G>A; p.E322K; 13:48367518-48367518	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.964G>A; p.E322K; 13:48367518-48367518	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.584G>A; p.W195*; 13:48349000-48349000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1999G>T; p.E667*; 13:48459726-48459726	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2326-1G>A; p.?; 13:48465204-48465204	prostate	carcinoma	Unknown
c.1318G>T; p.E440*; 13:48377020-48377020	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.663T>A; p.C221*; 13:48360072-48360072	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.210_211insG; p.R71fs*39; 13:48307352-48307353	eye; retina	retinoblastoma	Insertion - Frameshift
c.1318G>T; p.E440*; 13:48377020-48377020	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1318G>T; p.E440*; 13:48377020-48377020	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Nonsense
c.2520+3_2520+6delGAGT; p.?; 13:48473393-48473396	eye; retina	retinoblastoma	Unknown
c.1977T>C; p.Y659Y; 13:48459704-48459704	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1332+1G>A; p.?; 13:48377035-48377035	urinary_tract; bladder	carcinoma	Unknown
c.1332+1G>A; p.?; 13:48377035-48377035	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.2489+2T>A; p.?; 13:48465370-48465370	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2327C>G; p.P776R; 13:48465206-48465206	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2361A>G; p.R787R; 13:48465240-48465240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1331A>T; p.Q444L; 13:48377033-48377033	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.380G>T; p.S127I; 13:48342714-48342714	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1862G>C; p.R621P; 13:48456251-48456251	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1954_1955insA; p.V654fs*14; 13:48456343-48456344	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1346G>A; p.G449E; 13:48379607-48379607	skin	malignant_melanoma	Substitution - Missense
c.2389_2390insT; p.L797fs*18; 13:48465268-48465269	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2117G>T; p.C706F; 13:48463741-48463741	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1494T>A; p.Y498*; 13:48380237-48380237	eye; retina	retinoblastoma	Substitution - Nonsense
c.1687T>C; p.W563R; 13:48381435-48381435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2107-2A>G; p.?; 13:48463729-48463729	urinary_tract; bladder	carcinoma	Unknown
c.2117G>T; p.C706F; 13:48463741-48463741	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1836T>A; p.S612S; 13:48456225-48456225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2107-2A>G; p.?; 13:48463729-48463729	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2117G>T; p.C706F; 13:48463741-48463741	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2107-2A>G; p.?; 13:48463729-48463729	urinary_tract; bladder	carcinoma	Unknown
c.1687T>C; p.W563R; 13:48381435-48381435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.413T>G; p.I138S; 13:48345112-48345112	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1687T>C; p.W563R; 13:48381435-48381435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2370C>A; p.Y790*; 13:48465249-48465249	oesophagus	carcinoma	Substitution - Nonsense
c.2233A>T; p.K745*; 13:48465019-48465019	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.233G>T; p.W78L; 13:48307375-48307375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.380+2T>G; p.?; 13:48342716-48342716	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.683A>G; p.K228R; 13:48360092-48360092	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1960G>C; p.V654L; 13:48456349-48456349	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1960G>C; p.V654L; 13:48456349-48456349	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2370C>A; p.Y790*; 13:48465249-48465249	haematopoietic_and_lymphoid_tissue; tonsil	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.1166T>A; p.L389*; 13:48373443-48373443	eye; retina	retinoblastoma	Substitution - Nonsense
c.265-2A>G; p.?; 13:48342597-48342597	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.234G>A; p.W78*; 13:48307376-48307376	skin; trunk	malignant_melanoma	Substitution - Nonsense
c.1750G>T; p.D584Y; 13:48453047-48453047	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1954delA; p.V654fs*4; 13:48456343-48456343	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.234G>A; p.W78*; 13:48307376-48307376	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2224_2226GTT>ATG; p.V742M; 13:48465010-48465012	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2063T>C; p.L688P; 13:48459790-48459790	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.336_340delGATGT; p.E112fs*6; 13:48342670-48342674	eye; retina	retinoblastoma	Deletion - Frameshift
c.2063T>C; p.L688P; 13:48459790-48459790	eye; retina	retinoblastoma	Substitution - Missense
c.380+10C>G; p.?; 13:48342724-48342724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.1961-1delG; p.?; 13:48459687-48459687	lung	carcinoma; small_cell_carcinoma	Unknown
c.838G>T; p.E280*; 13:48362934-48362934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.838G>T; p.E280*; 13:48362934-48362934	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.1185A>G; p.Q395Q; 13:48373462-48373462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1185A>G; p.Q395Q; 13:48373462-48373462	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1185A>G; p.Q395Q; 13:48373462-48373462	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2520+3GA>AT; p.?; 13:48473393-48473393	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2356C>T; p.P786S; 13:48465235-48465235	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.838G>T; p.E280*; 13:48362934-48362934	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2356C>T; p.P786S; 13:48465235-48465235	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.390A>C; p.K130N; 13:48345089-48345089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2142G>C; p.V714V; 13:48463766-48463766	breast	carcinoma	Substitution - coding silent
c.1650delA; p.E551fs*60; 13:48381398-48381398	breast	carcinoma	Deletion - Frameshift
c.2579A>G; p.K860R; 13:48476759-48476759	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.367A>T; p.N123Y; 13:48342701-48342701	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2054A>G; p.Q685R; 13:48459781-48459781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2127T>A; p.Y709*; 13:48463751-48463751	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.210_211insAG; p.A74fs*4; 13:48307352-48307353	breast	carcinoma	Insertion - Frameshift
c.815G>T; p.R272I; 13:48362911-48362911	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2359C>A; p.R787R; 13:48465238-48465238	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2267A>G; p.Y756C; 13:48465053-48465053	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1498A>T; p.R500*; 13:48380241-48380241	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2267A>G; p.Y756C; 13:48465053-48465053	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2267A>G; p.Y756C; 13:48465053-48465053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1961-1G>A; p.?; 13:48459687-48459687	eye; retina	retinoblastoma	Unknown
c.1648T>A; p.L550I; 13:48381396-48381396	breast	carcinoma	Substitution - Missense
c.2360G>A; p.R787Q; 13:48465239-48465239	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1192_1193GA>TT; p.E398L; 13:48373469-48373470	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1961-1G>A; p.?; 13:48459687-48459687	cervix	carcinoma	Unknown
c.622A>G; p.M208V; 13:48360031-48360031	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1961-1G>A; p.?; 13:48459687-48459687	eye; retina	retinoblastoma	Unknown
c.2360G>A; p.R787Q; 13:48465239-48465239	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.751C>T; p.R251*; 13:48362847-48362847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	skin	malignant_melanoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2393G>T; p.R798L; 13:48465272-48465272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2077G>T; p.E693*; 13:48459804-48459804	breast	carcinoma; lobular_carcinoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	oesophagus	carcinoma	Substitution - Nonsense
c.2314G>T; p.A772S; 13:48465100-48465100	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.751C>T; p.R251*; 13:48362847-48362847	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1580_1581insT; p.Y529fs*26; 13:48381328-48381329	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.751C>T; p.R251*; 13:48362847-48362847	lung	carcinoma; mixed_small_cell_carcinoma-adenocarcinoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	eye; retina	retinoblastoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	eye; retina	retinoblastoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	eye; retina	retinoblastoma	Substitution - Nonsense
c.751C>T; p.R251*; 13:48362847-48362847	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2077G>T; p.E693*; 13:48459804-48459804	breast	carcinoma; lobular_carcinoma	Substitution - Nonsense
c.1901C>G; p.S634*; 13:48456290-48456290	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2530A>T; p.K844*; 13:48476710-48476710	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2392C>T; p.R798W; 13:48465271-48465271	thyroid	carcinoma	Substitution - Missense
c.2392C>T; p.R798W; 13:48465271-48465271	ovary	carcinoma	Substitution - Missense
c.2310_2311insT; p.Y771fs*24; 13:48465096-48465097	eye; retina	retinoblastoma	Insertion - Frameshift
c.1901C>G; p.S634*; 13:48456290-48456290	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1695+2T>C; p.?; 13:48381445-48381445	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1901C>G; p.S634*; 13:48456290-48456290	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.410A>G; p.E137G; 13:48345109-48345109	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.380+3A>C; p.?; 13:48342717-48342717	eye; retina	retinoblastoma	Unknown
c.2479C>T; p.P827S; 13:48465358-48465358	thyroid	carcinoma	Substitution - Missense
c.1901C>G; p.S634*; 13:48456290-48456290	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.2520+6T>C; p.?; 13:48473396-48473396	ovary	other; neoplasm	Unknown
c.2490-7T>G; p.?; 13:48473353-48473353	pancreas	carcinoid-endocrine_tumour	Unknown
c.341C>A; p.S114*; 13:48342675-48342675	eye; retina	retinoblastoma	Substitution - Nonsense
c.1319delA; p.I441fs*16; 13:48377021-48377021	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2212-1G>A; p.?; 13:48464997-48464997	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.982A>G; p.N328D; 13:48367536-48367536	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.773delA; p.N258fs*6; 13:48362869-48362869	prostate	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1438_1439insA; p.N480fs*13; 13:48380181-48380182	eye; retina	retinoblastoma	Insertion - Frameshift
c.982A>G; p.N328D; 13:48367536-48367536	large_intestine; rectum	NS	Substitution - Missense
c.2104C>T; p.Q702*; 13:48459831-48459831	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2104C>T; p.Q702*; 13:48459831-48459831	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1633G>T; p.E545*; 13:48381381-48381381	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1667G>A; p.R556Q; 13:48381415-48381415	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1735C>A; p.R579R; 13:48453032-48453032	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1975T>C; p.Y659H; 13:48459702-48459702	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1633G>T; p.E545*; 13:48381381-48381381	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1303G>T; p.G435*; 13:48377005-48377005	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1303G>T; p.G435*; 13:48377005-48377005	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1688G>A; p.W563*; 13:48381436-48381436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1667G>A; p.R556Q; 13:48381415-48381415	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1975T>C; p.Y659H; 13:48459702-48459702	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.861+1G>A; p.?; 13:48362958-48362958	lung; right_lower_lobe	carcinoma; adenocarcinoma	Unknown
c.1620C>T; p.G540G; 13:48381368-48381368	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2133_2180del48; p.C712_A727del16; 13:48463757-48463804	lung	carcinoma; small_cell_carcinoma	Deletion - In frame
c.861+1G>A; p.?; 13:48362958-48362958	central_nervous_system; thalamus	glioma; astrocytoma_Grade_IV	Unknown
c.1261G>A; p.D421N; 13:48376963-48376963	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2422_2440del19; p.P808fs*12; 13:48465301-48465319	bone	osteosarcoma; osteoblastic	Deletion - Frameshift
c.1073G>A; p.R358Q; 13:48368550-48368550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1190C>G; p.S397*; 13:48373467-48373467	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.401_404delTACT; p.L134fs*1; 13:48345100-48345103	eye; retina	retinoblastoma	Deletion - Frameshift
c.2104C>A; p.Q702K; 13:48459831-48459831	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.861+2T>A; p.?; 13:48362959-48362959	pancreas	carcinoma; small_cell_carcinoma	Unknown
c.2104C>A; p.Q702K; 13:48459831-48459831	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2184C>A; p.Y728*; 13:48463808-48463808	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.868_869insA; p.N290fs*20; 13:48364900-48364901	pancreas	carcinoma; large_cell_neuroendocrine_carcinoma	Insertion - Frameshift
c.1167A>T; p.L389F; 13:48373444-48373444	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1735C>T; p.R579*; 13:48453032-48453032	eye; retina	retinoblastoma	Substitution - Nonsense
c.1735C>T; p.R579*; 13:48453032-48453032	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1735C>T; p.R579*; 13:48453032-48453032	eye; retina	retinoblastoma	Substitution - Nonsense
c.1735C>T; p.R579*; 13:48453032-48453032	skin	malignant_melanoma	Substitution - Nonsense
c.1735C>T; p.R579*; 13:48453032-48453032	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1735C>T; p.R579*; 13:48453032-48453032	skin	malignant_melanoma	Substitution - Nonsense
c.1027C>T; p.L343F; 13:48367581-48367581	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2092A>T; p.R698W; 13:48459819-48459819	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1735C>T; p.R579*; 13:48453032-48453032	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2043G>T; p.W681C; 13:48459770-48459770	pancreas	carcinoma	Substitution - Missense
c.1735C>T; p.R579*; 13:48453032-48453032	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1735C>T; p.R579*; 13:48453032-48453032	eye; retina	retinoblastoma	Substitution - Nonsense
c.1735C>T; p.R579*; 13:48453032-48453032	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1389+72G>T; p.?; 13:48379722-48379722	lung	carcinoma; adenocarcinoma	Unknown
c.2092A>T; p.R698W; 13:48459819-48459819	breast	carcinoma	Substitution - Missense
c.1735C>T; p.R579*; 13:48453032-48453032	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.763C>T; p.R255*; 13:48362859-48362859	eye; retina	retinoblastoma	Substitution - Nonsense
c.297G>A; p.W99*; 13:48342631-48342631	skin; upper_leg	carcinoma; Merkel_cell_carcinoma	Substitution - Nonsense
c.1597G>T; p.E533*; 13:48381345-48381345	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.873T>C; p.V291V; 13:48364905-48364905	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.412A>G; p.I138V; 13:48345111-48345111	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2082C>T; p.L694L; 13:48459809-48459809	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.367A>G; p.N123D; 13:48342701-48342701	ovary	carcinoma	Substitution - Missense
c.2082C>T; p.L694L; 13:48459809-48459809	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.486C>G; p.F162L; 13:48345185-48345185	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.264+2T>C; p.?; 13:48307408-48307408	lung	carcinoma; adenocarcinoma	Unknown
c.1399C>T; p.R467*; 13:48380062-48380062	bone	osteosarcoma; osteoblastic	Substitution - Nonsense
c.1970T>C; p.L657P; 13:48459697-48459697	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1399C>T; p.R467*; 13:48380062-48380062	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.485T>C; p.F162S; 13:48345184-48345184	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1970T>C; p.L657P; 13:48459697-48459697	ovary	other; neoplasm	Substitution - Missense
c.2091C>G; p.D697E; 13:48459818-48459818	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1544C>T; p.P515L; 13:48381292-48381292	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1333-2A>G; p.?; 13:48379592-48379592	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1072C>T; p.R358*; 13:48368549-48368549	eye; retina	retinoblastoma	Substitution - Nonsense
c.1072C>T; p.R358*; 13:48368549-48368549	eye; retina	retinoblastoma	Substitution - Nonsense
c.1072C>T; p.R358*; 13:48368549-48368549	eye; retina	retinoblastoma	Substitution - Nonsense
c.1544C>T; p.P515L; 13:48381292-48381292	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1072C>T; p.R358*; 13:48368549-48368549	eye; retina	retinoblastoma	Substitution - Nonsense
c.1072C>T; p.R358*; 13:48368549-48368549	eye; retina	retinoblastoma	Substitution - Nonsense
c.1333-2A>G; p.?; 13:48379592-48379592	central_nervous_system; brain	glioma	Unknown
c.1544C>T; p.P515L; 13:48381292-48381292	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.188A>T; p.K63I; 13:48307330-48307330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1072C>T; p.R358*; 13:48368549-48368549	eye; retina	retinoblastoma	Substitution - Nonsense
c.2107-1_2109delGATT; p.?; 13:48463730-48463733	liver	carcinoma	Unknown
c.1072C>T; p.R358*; 13:48368549-48368549	eye; retina	retinoblastoma	Substitution - Nonsense
c.1072C>T; p.R358*; 13:48368549-48368549	haematopoietic_and_lymphoid_tissue; skin	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Substitution - Nonsense
c.2106+1G>A; p.?; 13:48459834-48459834	lung	carcinoma; small_cell_carcinoma	Unknown
c.1861C>T; p.R621C; 13:48456250-48456250	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2212-23delTTTTACAT; p.?; 13:48464975-48464982	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Unknown
c.1861C>T; p.R621C; 13:48456250-48456250	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.296delG; p.G100fs*11; 13:48342630-48342630	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1505delC; p.T502fs*17; 13:48381253-48381253	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Deletion - Frameshift
c.1345G>C; p.G449R; 13:48379606-48379606	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.258A>G; p.G86G; 13:48307400-48307400	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1421G>A; p.S474N; 13:48380084-48380084	eye; retina	retinoblastoma	Substitution - Missense
c.1537_1538delTC; p.S513fs*9; 13:48381285-48381286	prostate	carcinoma; adenocarcinoma	Deletion - Frameshift
c.245C>A; p.S82*; 13:48307387-48307387	lung	carcinoma; giant_cell_carcinoma	Substitution - Nonsense
c.1389+1G>T; p.?; 13:48379651-48379651	lung	carcinoma; small_cell_carcinoma	Unknown
c.42C>T; p.A14A; 13:48303954-48303954	eye; retina	retinoblastoma	Substitution - coding silent
c.1452_1453delGT; p.M484fs*8; 13:48380195-48380196	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1418T>G; p.F473C; 13:48380081-48380081	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2331T>C; p.P777P; 13:48465210-48465210	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1820T>C; p.L607P; 13:48456209-48456209	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1421+2T>A; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2084T>A; p.M695K; 13:48459811-48459811	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1820T>C; p.L607P; 13:48456209-48456209	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1689G>A; p.W563*; 13:48381437-48381437	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2293A>T; p.K765*; 13:48465079-48465079	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1306C>T; p.Q436*; 13:48377008-48377008	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1493A>G; p.Y498C; 13:48380236-48380236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1469C>T; p.A490V; 13:48380212-48380212	liver	carcinoma	Substitution - Missense
c.2502A>G; p.S834S; 13:48473372-48473372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1469C>T; p.A490V; 13:48380212-48380212	liver	carcinoma	Substitution - Missense
c.2293A>T; p.K765*; 13:48465079-48465079	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2293A>T; p.K765*; 13:48465079-48465079	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1306C>T; p.Q436*; 13:48377008-48377008	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2173_2174insTT; p.T726fs*1; 13:48463797-48463798	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1942T>A; p.S648T; 13:48456331-48456331	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2293A>T; p.K765*; 13:48465079-48465079	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.244T>C; p.S82P; 13:48307386-48307386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.244T>C; p.S82P; 13:48307386-48307386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.244T>C; p.S82P; 13:48307386-48307386	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.244T>C; p.S82P; 13:48307386-48307386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2490_2520del31; p.I831fs*8; 13:48473360-48473390	lung	carcinoid-endocrine_tumour; atypical	Deletion - Frameshift
c.608-2A>T; p.?; 13:48360015-48360015	ovary	other; neoplasm	Unknown
c.1184A>G; p.Q395R; 13:48373461-48373461	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.244T>C; p.S82P; 13:48307386-48307386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.244T>C; p.S82P; 13:48307386-48307386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.540-1G>A; p.?; 13:48348955-48348955	skin	malignant_melanoma	Unknown
c.2257A>G; p.I753V; 13:48465043-48465043	lung	carcinoid-endocrine_tumour; atypical	Substitution - Missense
c.1001G>A; p.R334K; 13:48367555-48367555	breast	carcinoma	Substitution - Missense
c.1836T>C; p.S612S; 13:48456225-48456225	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.187A>T; p.K63*; 13:48307329-48307329	breast	other; fibroadenoma	Substitution - Nonsense
c.1836T>C; p.S612S; 13:48456225-48456225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.256G>T; p.G86*; 13:48307398-48307398	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1819C>A; p.L607I; 13:48456208-48456208	breast	carcinoma	Substitution - Missense
c.862-5T>G; p.?; 13:48364889-48364889	eye; retina	retinoblastoma	Unknown
c.2328C>T; p.P776P; 13:48465207-48465207	skin	malignant_melanoma	Substitution - coding silent
c.370_371delAT; p.I124fs*6; 13:48342704-48342705	eye; retina	retinoblastoma	Deletion - Frameshift
c.1416_1417insAAA; p.N472_F473insK; 13:48380079-48380080	eye; retina	retinoblastoma	Insertion - In frame
c.1961-2A>C; p.?; 13:48459686-48459686	skin	malignant_melanoma	Unknown
c.370_371delAT; p.I124fs*6; 13:48342704-48342705	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1980_1983delCCGG; p.R661fs*1; 13:48459707-48459710	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1814+2T>A; p.?; 13:48453113-48453113	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.1980_1983delCCGG; p.R661fs*1; 13:48459707-48459710	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1980_1983delCCGG; p.R661fs*1; 13:48459707-48459710	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2284C>T; p.Q762*; 13:48465070-48465070	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.227delT; p.L76fs*1; 13:48307369-48307369	eye; retina	retinoblastoma	Deletion - Frameshift
c.1499-1G>T; p.?; 13:48381246-48381246	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2228_2238del11; p.L743fs*1; 13:48465014-48465024	pancreas	carcinoma; large_cell_neuroendocrine_carcinoma	Deletion - Frameshift
c.1499-1G>T; p.?; 13:48381246-48381246	bone; tibia	osteosarcoma; chondroblastic	Unknown
c.1499-1G>T; p.?; 13:48381246-48381246	bone; tibia	osteosarcoma; chondroblastic	Unknown
c.1017_1039del23; p.D340fs*5; 13:48367571-48367593	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.265-2A>T; p.?; 13:48342597-48342597	lung	carcinoma; small_cell_carcinoma	Unknown
c.1499-1G>T; p.?; 13:48381246-48381246	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.287A>G; p.K96R; 13:48342621-48342621	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1909C>T; p.Q637*; 13:48456298-48456298	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.2153A>G; p.D718G; 13:48463777-48463777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.465delT; p.Y155fs*1; 13:48345164-48345164	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2153A>G; p.D718G; 13:48463777-48463777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2406G>C; p.G802G; 13:48465285-48465285	breast	carcinoma	Substitution - coding silent
c.2153A>G; p.D718G; 13:48463777-48463777	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2153A>G; p.D718G; 13:48463777-48463777	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1833A>T; p.R611S; 13:48456222-48456222	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2160_2161insT; p.K722fs*29; 13:48463784-48463785	lung	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.2517C>A; p.F839L; 13:48473387-48473387	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.975T>G; p.Y325*; 13:48367529-48367529	eye; retina	retinoblastoma	Substitution - Nonsense
c.1695+1G>T; p.?; 13:48381444-48381444	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.1695+1G>T; p.?; 13:48381444-48381444	urinary_tract; bladder	carcinoma	Unknown
c.2023G>T; p.E675*; 13:48459750-48459750	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.224G>T; p.W75L; 13:48307366-48307366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1695+1G>T; p.?; 13:48381444-48381444	urinary_tract; bladder	carcinoma	Unknown
c.617T>G; p.L206*; 13:48360026-48360026	breast	carcinoma	Substitution - Nonsense
c.1655G>T; p.R552L; 13:48381403-48381403	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1545A>G; p.P515P; 13:48381293-48381293	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2594G>T; p.G865V; 13:48476774-48476774	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2594G>T; p.G865V; 13:48476774-48476774	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2143A>T; p.K715*; 13:48463767-48463767	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2143A>T; p.K715*; 13:48463767-48463767	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2570G>A; p.R857H; 13:48476750-48476750	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1422-2A>T; p.?; 13:48380163-48380163	lung	carcinoma; small_cell_carcinoma	Unknown
c.2143A>T; p.K715*; 13:48463767-48463767	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.233G>A; p.W78*; 13:48307375-48307375	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1147C>A; p.Q383K; 13:48373424-48373424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.765A>G; p.R255R; 13:48362861-48362861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1982G>T; p.R661L; 13:48459709-48459709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2026_2027insTAGAACA; p.I679fs*15; 13:48459753-48459754	breast	carcinoma	Insertion - Frameshift
c.484_485TT>C; p.F162fs*13; 13:48345183-48345184	eye; retina	retinoblastoma	Complex - frameshift
c.765A>G; p.R255R; 13:48362861-48362861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1362C>G; p.Y454*; 13:48379623-48379623	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2110A>G; p.M704V; 13:48463734-48463734	ovary	carcinoma	Substitution - Missense
c.1990A>G; p.T664A; 13:48459717-48459717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1236delA; p.E413fs*4; 13:48376938-48376938	eye; retina	retinoblastoma	Deletion - Frameshift
c.341C>G; p.S114W; 13:48342675-48342675	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1072C>A; p.R358R; 13:48368549-48368549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.644C>A; p.S215*; 13:48360053-48360053	breast	carcinoma	Substitution - Nonsense
c.377T>C; p.I126T; 13:48342711-48342711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1915C>T; p.Q639*; 13:48456304-48456304	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1573G>A; p.A525T; 13:48381321-48381321	skin	malignant_melanoma	Substitution - Missense
c.246A>G; p.S82S; 13:48307388-48307388	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2252C>A; p.S751Y; 13:48465038-48465038	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1695+2T>A; p.?; 13:48381445-48381445	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2359C>T; p.R787*; 13:48465238-48465238	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.797delA; p.Q266fs*2; 13:48362893-48362893	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.2034_2035insTAGAACAT; p.I679fs*1; 13:48459761-48459762	eye; retina	retinoblastoma	Insertion - Frameshift
c.2359C>T; p.R787*; 13:48465238-48465238	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2527G>T; p.E843*; 13:48476707-48476707	eye; retina	retinoblastoma	Substitution - Nonsense
c.2359C>T; p.R787*; 13:48465238-48465238	prostate	carcinoma	Substitution - Nonsense
c.2359C>T; p.R787*; 13:48465238-48465238	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1749_1750insAACT; p.D584fs*2; 13:48453046-48453047	eye; retina	retinoblastoma	Insertion - Frameshift
c.340T>C; p.S114P; 13:48342674-48342674	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.240A>C; p.K80N; 13:48307382-48307382	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1900T>C; p.S634P; 13:48456289-48456289	eye; retina	retinoblastoma	Substitution - Missense
c.1723C>T; p.Q575*; 13:48453020-48453020	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1421+1G>A; p.?; 13:48380085-48380085	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1389+1G>C; p.?; 13:48379651-48379651	eye; retina	retinoblastoma	Unknown
c.1149_1150insA; p.Q384fs*11; 13:48373426-48373427	eye; retina	retinoblastoma	Insertion - Frameshift
c.211_212delAG; p.R73fs*36; 13:48307353-48307354	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1963_1964insTA; p.Y655fs*4; 13:48459690-48459691	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1571_1578delAAGCCTTT; p.K524fs*28; 13:48381319-48381326	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2326-2A>G; p.?; 13:48465203-48465203	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.651G>A; p.Q217Q; 13:48360060-48360060	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.473T>C; p.L158S; 13:48345172-48345172	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1328C>G; p.S443*; 13:48377030-48377030	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1927A>T; p.K643*; 13:48456316-48456316	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1960delG; p.V654fs*4; 13:48456349-48456349	breast	carcinoma; basal_(triple-negative)_carcinoma	Deletion - Frameshift
c.1421+2T>G; p.?; 13:48380086-48380086	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1863T>C; p.R621R; 13:48456252-48456252	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.596T>G; p.L199*; 13:48349012-48349012	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2763T>C; p.D921D; 13:48480047-48480047	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2393G>A; p.R798Q; 13:48465272-48465272	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1031_1043del13; p.D346fs*17; 13:48367585-48367597	NS	NS	Deletion - Frameshift
c.2393G>A; p.R798Q; 13:48465272-48465272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1994T>G; p.L665R; 13:48459721-48459721	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2330delC; p.P777fs*33; 13:48465209-48465209	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.13A>T; p.T5S; 13:48303925-48303925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.803_804delAA; p.N269fs*1; 13:48362899-48362900	pancreas	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2330delC; p.P777fs*33; 13:48465209-48465209	prostate	carcinoma	Deletion - Frameshift
c.2144A>G; p.K715R; 13:48463768-48463768	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2687_2689delAAT; p.K896_F897>I; 13:48477378-48477380	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Complex - deletion inframe
c.443T>C; p.M148T; 13:48345142-48345142	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.381-2A>T; p.?; 13:48345078-48345078	lung	carcinoma; small_cell_carcinoma	Unknown
c.1817A>G; p.Y606C; 13:48456206-48456206	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.2171T>A; p.I724N; 13:48463795-48463795	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1668A>G; p.R556R; 13:48381416-48381416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2171T>A; p.I724N; 13:48463795-48463795	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1499-1G>C; p.?; 13:48381246-48381246	liver	carcinoma	Unknown
c.2339C>A; p.S780*; 13:48465218-48465218	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2171T>A; p.I724N; 13:48463795-48463795	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.752G>T; p.R251L; 13:48362848-48362848	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2234A>T; p.K745I; 13:48465020-48465020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1581delT; p.Y529fs*3; 13:48381329-48381329	liver	carcinoma	Deletion - Frameshift
c.1186C>T; p.P396S; 13:48373463-48373463	breast	carcinoma	Substitution - Missense
c.2113_2121delATGTGTTCC; p.C706_M708delCSM; 13:48463737-48463745	lung	carcinoma; small_cell_carcinoma	Deletion - In frame

COSMIC somatic mutation [Top]