Entrez Gene

Basic Information
Gene ID	57634
Name	EP400
Synonymous	E1A binding protein p400;EP400;E1A binding protein p400
Definition	CAG repeat protein 32\|E1A-binding protein p400\|domino homolog\|hDomino\|p400 SWI2/SNF2-related protein\|p400 kDa SWI2/SNF2-related protein\|trinucleotide repeat containing 12\|trinucleotide repeat-containing gene 12 protein
Position	12q24.33
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.6436G>T; p.E2146*; 12:132043714-132043714	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1772A>G; p.Q591R; 12:131982321-131982321	breast	carcinoma	Substitution - Missense
c.5177C>T; p.S1726F; 12:132028084-132028084	NS	malignant_melanoma	Substitution - Missense
c.8996C>T; p.A2999V; 12:132069616-132069616	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2960G>C; p.R987T; 12:132006136-132006136	skin	malignant_melanoma	Substitution - Missense
c.4140C>A; p.I1380I; 12:132018239-132018239	thyroid	other; neoplasm	Substitution - coding silent
c.5090C>T; p.P1697L; 12:132027512-132027512	skin; trunk	malignant_melanoma	Substitution - Missense
c.2580_2582delAGA; p.E862delE; 12:131990665-131990667	breast	carcinoma	Deletion - In frame
c.2081C>T; p.A694V; 12:131986665-131986665	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.147G>A; p.S49S; 12:131960766-131960766	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.4901G>T; p.R1634L; 12:132025691-132025691	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1388C>T; p.T463M; 12:131979746-131979746	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1780G>A; p.V594M; 12:131982329-131982329	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5483G>A; p.G1828D; 12:132029802-132029802	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6784G>T; p.A2262S; 12:132044953-132044953	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1130A>G; p.Q377R; 12:131961749-131961749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2311C>T; p.R771C; 12:131987792-131987792	pancreas	carcinoma	Substitution - Missense
c.1130A>G; p.Q377R; 12:131961749-131961749	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2015C>T; p.P672L; 12:131986599-131986599	skin	malignant_melanoma	Substitution - Missense
c.1130A>G; p.Q377R; 12:131961749-131961749	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6098_6099CC>TT; p.P2033L; 12:132037987-132037988	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6345G>A; p.E2115E; 12:132043441-132043441	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7521A>C; p.P2507P; 12:132053390-132053390	lung	carcinoid-endocrine_tumour; typical	Substitution - coding silent
c.108G>C; p.P36P; 12:131960727-131960727	liver	carcinoma	Substitution - coding silent
c.6582C>A; p.S2194R; 12:132044308-132044308	thyroid	other; neoplasm	Substitution - Missense
c.3274G>T; p.A1092S; 12:132006847-132006847	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.869G>T; p.R290L; 12:131961488-131961488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7947C>T; p.G2649G; 12:132062172-132062172	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7453C>T; p.R2485*; 12:132053204-132053204	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7453C>T; p.R2485*; 12:132053204-132053204	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.732C>T; p.A244A; 12:131961351-131961351	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.8181_8182insCAG; p.Q2748_T2749insQ; 12:132062548-132062549	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Insertion - In frame
c.8181_8182insCAG; p.Q2748_T2749insQ; 12:132062548-132062549	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8181_8182insCAG; p.Q2748_T2749insQ; 12:132062548-132062549	skin	malignant_melanoma	Insertion - In frame
c.4311C>T; p.P1437P; 12:132020082-132020082	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.8181_8182insCAG; p.Q2748_T2749insQ; 12:132062548-132062549	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.3426C>T; p.L1142L; 12:132011619-132011619	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.8181_8182insCAG; p.Q2748_T2749insQ; 12:132062548-132062549	skin	malignant_melanoma	Insertion - In frame
c.3426C>T; p.L1142L; 12:132011619-132011619	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.8181_8182insCAG; p.Q2748_T2749insQ; 12:132062548-132062549	breast	carcinoma	Insertion - In frame
c.2520G>T; p.E840D; 12:131990074-131990074	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.8675C>T; p.S2892L; 12:132066895-132066895	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.502G>T; p.G168W; 12:131961121-131961121	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2177C>T; p.S726L; 12:131986761-131986761	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.502G>T; p.G168W; 12:131961121-131961121	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3639G>A; p.S1213S; 12:132013517-132013517	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1503C>T; p.D501D; 12:131981556-131981556	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3927T>C; p.T1309T; 12:132017538-132017538	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.8187G>A; p.Q2729Q; 12:132062554-132062554	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6977G>A; p.G2326D; 12:132045511-132045511	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.8187G>A; p.Q2729Q; 12:132062554-132062554	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4387C>T; p.Q1463*; 12:132020158-132020158	breast	carcinoma	Substitution - Nonsense
c.5644C>A; p.L1882M; 12:132030048-132030048	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.183G>T; p.L61L; 12:131960802-131960802	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.8411C>T; p.P2804L; 12:132064744-132064744	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8548C>T; p.R2850W; 12:132064881-132064881	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4980C>T; p.A1660A; 12:132025770-132025770	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4246C>T; p.R1416*; 12:132018345-132018345	NS	malignant_melanoma	Substitution - Nonsense
c.4250C>T; p.P1417L; 12:132018349-132018349	skin	malignant_melanoma	Substitution - Missense
c.2391G>A; p.K797K; 12:131987872-131987872	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3142C>T; p.P1048S; 12:132006715-132006715	skin	malignant_melanoma	Substitution - Missense
c.2659G>A; p.A887T; 12:131991436-131991436	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7940C>T; p.A2647V; 12:132062165-132062165	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2659G>A; p.A887T; 12:131991436-131991436	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2659G>A; p.A887T; 12:131991436-131991436	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2659G>A; p.A887T; 12:131991436-131991436	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4141G>A; p.G1381S; 12:132018240-132018240	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2659G>A; p.A887T; 12:131991436-131991436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2659G>A; p.A887T; 12:131991436-131991436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8633C>T; p.A2878V; 12:132066853-132066853	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.5159T>A; p.V1720D; 12:132028066-132028066	liver	carcinoma	Substitution - Missense
c.4505C>T; p.P1502L; 12:132021136-132021136	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8633C>T; p.A2878V; 12:132066853-132066853	liver	carcinoma	Substitution - Missense
c.5280G>A; p.E1760E; 12:132028187-132028187	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5159T>A; p.V1720D; 12:132028066-132028066	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.92A>C; p.H31P; 12:131960711-131960711	liver	carcinoma	Substitution - Missense
c.8178A>G; p.Q2726Q; 12:132062545-132062545	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.8178A>G; p.Q2726Q; 12:132062545-132062545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8178A>G; p.Q2726Q; 12:132062545-132062545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8178A>G; p.Q2726Q; 12:132062545-132062545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8178A>G; p.Q2726Q; 12:132062545-132062545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1818G>A; p.P606P; 12:131982367-131982367	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1952C>A; p.P651H; 12:131986536-131986536	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8854_8855CC>TT; p.P2952L; 12:132067466-132067467	skin	malignant_melanoma	Substitution - Missense
c.8178A>G; p.Q2726Q; 12:132062545-132062545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2985C>G; p.L995L; 12:132006161-132006161	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.8178A>G; p.Q2726Q; 12:132062545-132062545	thyroid	other; neoplasm	Substitution - coding silent
c.8046C>T; p.N2682N; 12:132062271-132062271	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6646A>C; p.T2216P; 12:132044815-132044815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6646A>C; p.T2216P; 12:132044815-132044815	thyroid	other; neoplasm	Substitution - Missense
c.6232G>T; p.E2078*; 12:132043328-132043328	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6646A>C; p.T2216P; 12:132044815-132044815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6646A>C; p.T2216P; 12:132044815-132044815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6646A>C; p.T2216P; 12:132044815-132044815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6646A>C; p.T2216P; 12:132044815-132044815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6646A>C; p.T2216P; 12:132044815-132044815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6646A>C; p.T2216P; 12:132044815-132044815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6646A>C; p.T2216P; 12:132044815-132044815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6646A>C; p.T2216P; 12:132044815-132044815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6646A>C; p.T2216P; 12:132044815-132044815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6646A>C; p.T2216P; 12:132044815-132044815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3934G>A; p.A1312T; 12:132017545-132017545	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3934G>A; p.A1312T; 12:132017545-132017545	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3934G>A; p.A1312T; 12:132017545-132017545	large_intestine; colon	carcinoma	Substitution - Missense
c.6646A>C; p.T2216P; 12:132044815-132044815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3934G>A; p.A1312T; 12:132017545-132017545	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6646A>C; p.T2216P; 12:132044815-132044815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6646A>C; p.T2216P; 12:132044815-132044815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6646A>C; p.T2216P; 12:132044815-132044815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6646A>C; p.T2216P; 12:132044815-132044815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7877C>T; p.A2626V; 12:132055201-132055201	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7877C>T; p.A2626V; 12:132055201-132055201	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7877C>T; p.A2626V; 12:132055201-132055201	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1743G>T; p.P581P; 12:131982292-131982292	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1179G>C; p.L393F; 12:131961798-131961798	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6090T>G; p.V2030V; 12:132037979-132037979	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8199G>A; p.Q2733Q; 12:132062566-132062566	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.8199G>A; p.Q2733Q; 12:132062566-132062566	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5496C>T; p.H1832H; 12:132029815-132029815	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8199G>A; p.Q2733Q; 12:132062566-132062566	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3560G>A; p.R1187H; 12:132013127-132013127	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3560G>A; p.R1187H; 12:132013127-132013127	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2462delG; p.K823fs*8; 12:131990016-131990016	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3560G>A; p.R1187H; 12:132013127-132013127	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4950G>A; p.V1650V; 12:132025740-132025740	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.8785C>T; p.Q2929*; 12:132067397-132067397	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6803A>G; p.K2268R; 12:132045337-132045337	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7288G>T; p.D2430Y; 12:132050410-132050410	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9070A>T; p.I3024F; 12:132076564-132076564	pancreas	carcinoma	Substitution - Missense
c.4873G>A; p.V1625M; 12:132025663-132025663	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4864C>A; p.L1622I; 12:132025654-132025654	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4864C>A; p.L1622I; 12:132025654-132025654	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4864C>A; p.L1622I; 12:132025654-132025654	large_intestine; colon	carcinoma	Substitution - Missense
c.4069G>A; p.A1357T; 12:132017680-132017680	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.8290G>C; p.A2764P; 12:132062657-132062657	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4864C>A; p.L1622I; 12:132025654-132025654	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7071G>A; p.V2357V; 12:132045771-132045771	liver	carcinoma	Substitution - coding silent
c.5227A>G; p.S1743G; 12:132028134-132028134	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6521G>A; p.R2174Q; 12:132044247-132044247	pancreas	carcinoma	Substitution - Missense
c.3335G>T; p.R1112I; 12:132011528-132011528	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.28G>A; p.V10I; 12:131960647-131960647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6014G>A; p.R2005Q; 12:132037744-132037744	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6014G>A; p.R2005Q; 12:132037744-132037744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.611G>A; p.G204E; 12:131961230-131961230	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6106G>A; p.D2036N; 12:132037995-132037995	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3316C>T; p.P1106S; 12:132011509-132011509	skin	malignant_melanoma	Substitution - Missense
c.5913C>T; p.C1971C; 12:132032111-132032111	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9329C>T; p.P3110L; 12:132077630-132077630	skin	malignant_melanoma	Substitution - Missense
c.1565A>T; p.Q522L; 12:131982114-131982114	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5846C>T; p.A1949V; 12:132032044-132032044	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8196G>A; p.Q2732Q; 12:132062563-132062563	central_nervous_system; brain	glioma	Substitution - coding silent
c.1623G>C; p.G541G; 12:131982172-131982172	skin	malignant_melanoma	Substitution - coding silent
c.1722G>A; p.A574A; 12:131982271-131982271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4983C>T; p.G1661G; 12:132025773-132025773	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5486T>G; p.L1829R; 12:132029805-132029805	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3537C>G; p.C1179W; 12:132013104-132013104	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5675A>G; p.D1892G; 12:132030079-132030079	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5445A>C; p.P1815P; 12:132029764-132029764	breast	carcinoma	Substitution - coding silent
c.4042G>C; p.V1348L; 12:132017653-132017653	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6312G>T; p.M2104I; 12:132043408-132043408	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4201C>T; p.R1401W; 12:132018300-132018300	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.6312G>T; p.M2104I; 12:132043408-132043408	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.7856C>T; p.A2619V; 12:132055180-132055180	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.922G>A; p.A308T; 12:131961541-131961541	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9365G>A; p.C3122Y; 12:132077666-132077666	urinary_tract; bladder	carcinoma	Substitution - Missense
c.9365G>A; p.C3122Y; 12:132077666-132077666	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4489G>A; p.A1497T; 12:132021120-132021120	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2494C>T; p.R832W; 12:131990048-131990048	breast	carcinoma	Substitution - Missense
c.8152C>T; p.L2718F; 12:132062519-132062519	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2285G>A; p.R762H; 12:131987766-131987766	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5138G>A; p.R1713H; 12:132028045-132028045	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1687C>T; p.P563S; 12:131982236-131982236	skin	malignant_melanoma	Substitution - Missense
c.5554C>T; p.P1852S; 12:132029873-132029873	skin	malignant_melanoma	Substitution - Missense
c.4463T>C; p.F1488S; 12:132021094-132021094	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.131C>T; p.P44L; 12:131960750-131960750	skin	malignant_melanoma	Substitution - Missense
c.7137C>T; p.Y2379Y; 12:132045837-132045837	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4318C>T; p.R1440C; 12:132020089-132020089	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5539C>T; p.R1847C; 12:132029858-132029858	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.8181A>G; p.Q2727Q; 12:132062548-132062548	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	skin	malignant_melanoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.8075C>T; p.S2692F; 12:132062300-132062300	skin	malignant_melanoma	Substitution - Missense
c.8181A>G; p.Q2727Q; 12:132062548-132062548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	skin	malignant_melanoma	Substitution - coding silent
c.1559C>T; p.T520M; 12:131982108-131982108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8181A>G; p.Q2727Q; 12:132062548-132062548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3337A>G; p.S1113G; 12:132011530-132011530	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.8181A>G; p.Q2727Q; 12:132062548-132062548	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	central_nervous_system; brain	glioma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	liver	carcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	skin	malignant_melanoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	skin	malignant_melanoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3337A>G; p.S1113G; 12:132011530-132011530	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.8181A>G; p.Q2727Q; 12:132062548-132062548	central_nervous_system; brain	glioma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.6119C>T; p.P2040L; 12:132038008-132038008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8181A>G; p.Q2727Q; 12:132062548-132062548	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.6128C>T; p.A2043V; 12:132038017-132038017	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.8181A>G; p.Q2727Q; 12:132062548-132062548	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	thyroid	other; neoplasm	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	thyroid	other; neoplasm	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.6119C>T; p.P2040L; 12:132038008-132038008	prostate	carcinoma	Substitution - Missense
c.8181A>G; p.Q2727Q; 12:132062548-132062548	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	central_nervous_system; brain	glioma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.8181A>G; p.Q2727Q; 12:132062548-132062548	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.8657C>T; p.P2886L; 12:132066877-132066877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4765C>T; p.P1589S; 12:132023851-132023851	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5019C>T; p.G1673G; 12:132027441-132027441	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5089C>G; p.P1697A; 12:132027511-132027511	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1842T>C; p.P614P; 12:131982391-131982391	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7164C>A; p.R2388R; 12:132045864-132045864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8973C>A; p.S2991S; 12:132069593-132069593	breast	carcinoma	Substitution - coding silent
c.6903G>A; p.K2301K; 12:132045437-132045437	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1929G>T; p.Q643H; 12:131982478-131982478	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.8380C>T; p.Q2794*; 12:132064713-132064713	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.5956G>C; p.V1986L; 12:132037686-132037686	breast	carcinoma	Substitution - Missense
c.1284G>A; p.E428E; 12:131961903-131961903	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7227G>A; p.T2409T; 12:132050349-132050349	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4976C>T; p.P1659L; 12:132025766-132025766	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8277G>T; p.Q2759H; 12:132062644-132062644	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6120G>A; p.P2040P; 12:132038009-132038009	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.6590A>T; p.Y2197F; 12:132044675-132044675	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.6120G>A; p.P2040P; 12:132038009-132038009	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4761G>A; p.E1587E; 12:132023847-132023847	breast	carcinoma	Substitution - coding silent
c.6366+7G>A; p.?; 12:132043469-132043469	liver	carcinoma	Unknown
c.8653G>A; p.V2885I; 12:132066873-132066873	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4014C>T; p.V1338V; 12:132017625-132017625	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.8653G>A; p.V2885I; 12:132066873-132066873	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8653G>A; p.V2885I; 12:132066873-132066873	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6366+7G>A; p.?; 12:132043469-132043469	liver	carcinoma	Unknown
c.8607A>C; p.A2869A; 12:132066827-132066827	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1836C>T; p.P612P; 12:131982385-131982385	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1836C>T; p.P612P; 12:131982385-131982385	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.7535C>T; p.P2512L; 12:132053404-132053404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3373C>T; p.R1125C; 12:132011566-132011566	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3964C>A; p.L1322M; 12:132017575-132017575	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3413G>A; p.S1138N; 12:132011606-132011606	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5364G>A; p.L1788L; 12:132028271-132028271	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2827+1G>A; p.?; 12:131994957-131994957	stomach	carcinoma; adenocarcinoma	Unknown
c.2775A>C; p.A925A; 12:131994904-131994904	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1805C>T; p.P602L; 12:131982354-131982354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8824A>C; p.K2942Q; 12:132067436-132067436	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2986A>T; p.I996F; 12:132006162-132006162	skin	malignant_melanoma	Substitution - Missense
c.9230C>A; p.A3077E; 12:132077531-132077531	thyroid	other; neoplasm	Substitution - Missense
c.7527G>C; p.P2509P; 12:132053396-132053396	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.7527G>C; p.P2509P; 12:132053396-132053396	thyroid	other; neoplasm	Substitution - coding silent
c.2743G>A; p.D915N; 12:131994872-131994872	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8434C>T; p.Q2812*; 12:132064767-132064767	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2893delC; p.R966fs*46; 12:132005142-132005142	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3869G>C; p.C1290S; 12:132013859-132013859	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2140C>A; p.P714T; 12:131986724-131986724	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1960C>T; p.P654S; 12:131986544-131986544	skin; extremity	malignant_melanoma	Substitution - Missense
c.4021C>T; p.R1341W; 12:132017632-132017632	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5813A>C; p.H1938P; 12:132032011-132032011	prostate	carcinoma	Substitution - Missense
c.7337+2T>C; p.?; 12:132050461-132050461	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.5813A>C; p.H1938P; 12:132032011-132032011	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.7337+2T>C; p.?; 12:132050461-132050461	stomach	adenocarcinoma	Unknown
c.8229G>A; p.Q2743Q; 12:132062596-132062596	breast	carcinoma	Substitution - coding silent
c.8229G>A; p.Q2743Q; 12:132062596-132062596	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8229G>A; p.Q2743Q; 12:132062596-132062596	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8229G>A; p.Q2743Q; 12:132062596-132062596	pancreas	carcinoma	Substitution - coding silent
c.4536G>A; p.P1512P; 12:132021167-132021167	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.3730G>A; p.A1244T; 12:132013608-132013608	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8229G>A; p.Q2743Q; 12:132062596-132062596	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.8229G>A; p.Q2743Q; 12:132062596-132062596	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.8229G>A; p.Q2743Q; 12:132062596-132062596	central_nervous_system; brain	glioma	Substitution - coding silent
c.8229G>A; p.Q2743Q; 12:132062596-132062596	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8229G>A; p.Q2743Q; 12:132062596-132062596	thyroid	other; neoplasm	Substitution - coding silent
c.2220T>G; p.T740T; 12:131986804-131986804	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.8229G>A; p.Q2743Q; 12:132062596-132062596	central_nervous_system; brain	glioma	Substitution - coding silent
c.4536G>A; p.P1512P; 12:132021167-132021167	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.5691C>T; p.F1897F; 12:132030095-132030095	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.8229G>A; p.Q2743Q; 12:132062596-132062596	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3872G>A; p.R1291H; 12:132013862-132013862	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6969T>C; p.A2323A; 12:132045503-132045503	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6063+2T>C; p.?; 12:132037795-132037795	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.6627G>A; p.M2209I; 12:132044712-132044712	pancreas	carcinoma	Substitution - Missense
c.5823C>A; p.T1941T; 12:132032021-132032021	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5216G>A; p.C1739Y; 12:132028123-132028123	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2142C>A; p.P714P; 12:131986726-131986726	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.5824A>G; p.T1942A; 12:132032022-132032022	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3205C>T; p.L1069F; 12:132006778-132006778	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.18_19CC>TT; p.P7S; 12:131960637-131960638	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8374delC; p.P2793fs*46; 12:132064707-132064707	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.9154C>T; p.Q3052*; 12:132077455-132077455	skin	malignant_melanoma	Substitution - Nonsense
c.3271A>T; p.I1091F; 12:132006844-132006844	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4053A>T; p.P1351P; 12:132017664-132017664	thyroid	other; neoplasm	Substitution - coding silent
c.4400G>A; p.R1467Q; 12:132020171-132020171	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6314C>T; p.P2105L; 12:132043410-132043410	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2733C>T; p.D911D; 12:131992226-131992226	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.9280G>A; p.A3094T; 12:132077581-132077581	thyroid	other; neoplasm	Substitution - Missense
c.4400G>A; p.R1467Q; 12:132020171-132020171	urinary_tract; bladder	carcinoma	Substitution - Missense
c.8220G>A; p.Q2740Q; 12:132062587-132062587	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3633C>T; p.I1211I; 12:132013511-132013511	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8456C>T; p.P2819L; 12:132064789-132064789	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1111T>C; p.Y371H; 12:131961730-131961730	liver	carcinoma	Substitution - Missense
c.1269G>A; p.L423L; 12:131961888-131961888	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6877C>T; p.R2293C; 12:132045411-132045411	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6877C>T; p.R2293C; 12:132045411-132045411	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6877C>T; p.R2293C; 12:132045411-132045411	skin	malignant_melanoma	Substitution - Missense
c.2042C>T; p.S681F; 12:131986626-131986626	skin	malignant_melanoma	Substitution - Missense
c.2269C>T; p.L757L; 12:131987750-131987750	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6466G>C; p.A2156P; 12:132044192-132044192	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.8456C>A; p.P2819Q; 12:132064789-132064789	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.9055A>T; p.T3019S; 12:132076549-132076549	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3961G>A; p.V1321I; 12:132017572-132017572	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8378C>T; p.P2793L; 12:132064711-132064711	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5185C>T; p.P1729S; 12:132028092-132028092	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1077G>A; p.P359P; 12:131961696-131961696	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9334G>A; p.V3112I; 12:132077635-132077635	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2403G>A; p.A801A; 12:131987884-131987884	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1338G>T; p.Q446H; 12:131979696-131979696	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1351G>A; p.G451R; 12:131979709-131979709	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2403G>A; p.A801A; 12:131987884-131987884	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4447+7T>C; p.?; 12:132020225-132020225	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.6563C>T; p.T2188M; 12:132044289-132044289	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4784A>T; p.Q1595L; 12:132023870-132023870	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5424C>G; p.S1808S; 12:132029743-132029743	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.7026+10C>T; p.?; 12:132045570-132045570	stomach	adenocarcinoma	Unknown
c.8176_8181delCAACAA; p.Q2747_Q2748delQQ; 12:132062543-132062548	oesophagus	carcinoma; adenocarcinoma	Deletion - In frame
c.8176_8181delCAACAA; p.Q2747_Q2748delQQ; 12:132062543-132062548	oesophagus	carcinoma; adenocarcinoma	Deletion - In frame
c.8176_8181delCAACAA; p.Q2747_Q2748delQQ; 12:132062543-132062548	oesophagus	carcinoma; adenocarcinoma	Deletion - In frame
c.7068C>T; p.I2356I; 12:132045768-132045768	skin	malignant_melanoma	Substitution - coding silent
c.4247G>A; p.R1416Q; 12:132018346-132018346	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7068C>T; p.I2356I; 12:132045768-132045768	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6753G>A; p.K2251K; 12:132044922-132044922	skin	malignant_melanoma	Substitution - coding silent
c.4798A>C; p.T1600P; 12:132023884-132023884	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.8252C>T; p.T2751M; 12:132062619-132062619	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8617G>T; p.A2873S; 12:132066837-132066837	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.4457C>T; p.A1486V; 12:132021088-132021088	skin	malignant_melanoma	Substitution - Missense
c.3853G>A; p.E1285K; 12:132013843-132013843	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7082A>T; p.H2361L; 12:132045782-132045782	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3029G>A; p.R1010K; 12:132006205-132006205	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4371G>T; p.T1457T; 12:132020142-132020142	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3374G>A; p.R1125H; 12:132011567-132011567	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1412C>T; p.A471V; 12:131979770-131979770	pancreas	carcinoma	Substitution - Missense
c.8379G>A; p.P2793P; 12:132064712-132064712	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1412C>T; p.A471V; 12:131979770-131979770	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1563G>T; p.P521P; 12:131982112-131982112	central_nervous_system; brain	glioma	Substitution - coding silent
c.6509A>G; p.E2170G; 12:132044235-132044235	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5712C>A; p.T1904T; 12:132030116-132030116	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6965C>T; p.T2322I; 12:132045499-132045499	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.7855G>A; p.A2619T; 12:132055179-132055179	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6169G>T; p.E2057*; 12:132038058-132038058	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5434C>T; p.P1812S; 12:132029753-132029753	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.9178A>G; p.T3060A; 12:132077479-132077479	skin	malignant_melanoma	Substitution - Missense
c.3646C>T; p.H1216Y; 12:132013524-132013524	breast	carcinoma	Substitution - Missense
c.3450C>T; p.A1150A; 12:132013017-132013017	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1903G>T; p.A635S; 12:131982452-131982452	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4452A>G; p.A1484A; 12:132021083-132021083	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.8612A>G; p.Q2871R; 12:132066832-132066832	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4117G>A; p.D1373N; 12:132018216-132018216	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4616C>T; p.P1539L; 12:132021247-132021247	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8452C>T; p.P2818S; 12:132064785-132064785	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8793G>A; p.L2931L; 12:132067405-132067405	skin	malignant_melanoma	Substitution - coding silent
c.4459C>T; p.P1487S; 12:132021090-132021090	skin	malignant_melanoma	Substitution - Missense
c.4459C>T; p.P1487S; 12:132021090-132021090	skin	malignant_melanoma	Substitution - Missense
c.1190A>C; p.Q397P; 12:131961809-131961809	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2819C>A; p.A940D; 12:131994948-131994948	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.88_89insC; p.H31fs*34; 12:131960707-131960708	thyroid	carcinoma; anaplastic_carcinoma	Insertion - Frameshift
c.88_89insC; p.H31fs*34; 12:131960707-131960708	NS	malignant_melanoma	Insertion - Frameshift
c.88_89insC; p.H31fs*34; 12:131960707-131960708	NS	malignant_melanoma	Insertion - Frameshift
c.7849C>T; p.R2617C; 12:132055173-132055173	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6224A>G; p.E2075G; 12:132043320-132043320	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.6224A>G; p.E2075G; 12:132043320-132043320	liver	carcinoma	Substitution - Missense
c.2505C>T; p.A835A; 12:131990059-131990059	skin	malignant_melanoma	Substitution - coding silent
c.7828A>C; p.T2610P; 12:132055152-132055152	breast	carcinoma	Substitution - Missense
c.5772C>A; p.F1924L; 12:132031970-132031970	breast	carcinoma	Substitution - Missense
c.9086C>G; p.S3029C; 12:132076580-132076580	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4162C>T; p.R1388C; 12:132018261-132018261	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.8205G>A; p.Q2735Q; 12:132062572-132062572	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.8205G>A; p.Q2735Q; 12:132062572-132062572	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9235G>A; p.A3079T; 12:132077536-132077536	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8268A>C; p.Q2756H; 12:132062635-132062635	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4922T>A; p.M1641K; 12:132025712-132025712	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5789delT; p.C1932fs*13; 12:132031987-132031987	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.7798G>A; p.V2600M; 12:132055122-132055122	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.160C>T; p.P54S; 12:131960779-131960779	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.146C>T; p.S49L; 12:131960765-131960765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.146C>T; p.S49L; 12:131960765-131960765	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.146C>T; p.S49L; 12:131960765-131960765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.146C>T; p.S49L; 12:131960765-131960765	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5923G>A; p.G1975R; 12:132032121-132032121	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.146C>T; p.S49L; 12:131960765-131960765	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.146C>T; p.S49L; 12:131960765-131960765	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1931_1932insT; p.M644fs*47; 12:131986515-131986516	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.5314_5315GA>TG; p.E1772*; 12:132028221-132028222	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.146C>T; p.S49L; 12:131960765-131960765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8176_8178delCAA; p.Q2748delQ; 12:132062543-132062545	oesophagus	carcinoma; adenocarcinoma	Deletion - In frame
c.3458A>G; p.N1153S; 12:132013025-132013025	liver	carcinoma	Substitution - Missense
c.2341G>T; p.E781*; 12:131987822-131987822	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.247G>A; p.V83I; 12:131960866-131960866	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2985C>T; p.L995L; 12:132006161-132006161	pancreas	carcinoma	Substitution - coding silent
c.5555C>T; p.P1852L; 12:132029874-132029874	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7810G>A; p.A2604T; 12:132055134-132055134	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8677C>T; p.P2893S; 12:132066897-132066897	skin	malignant_melanoma	Substitution - Missense
c.3883C>T; p.R1295*; 12:132013873-132013873	pancreas	carcinoma	Substitution - Nonsense
c.4002C>T; p.H1334H; 12:132017613-132017613	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6607G>A; p.D2203N; 12:132044692-132044692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8414C>T; p.P2805L; 12:132064747-132064747	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2871C>T; p.A957A; 12:132005120-132005120	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.5065G>A; p.G1689R; 12:132027487-132027487	pancreas	carcinoma	Substitution - Missense
c.4198C>T; p.P1400S; 12:132018297-132018297	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2635G>C; p.E879Q; 12:131991412-131991412	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3719C>T; p.S1240F; 12:132013597-132013597	skin	malignant_melanoma	Substitution - Missense
c.483C>G; p.L161L; 12:131961102-131961102	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4880delC; p.Q1630fs*11; 12:132025670-132025670	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3719C>T; p.S1240F; 12:132013597-132013597	skin	malignant_melanoma	Substitution - Missense
c.3596T>A; p.V1199D; 12:132013163-132013163	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4746C>T; p.R1582R; 12:132023832-132023832	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.112C>T; p.P38S; 12:131960731-131960731	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4746C>T; p.R1582R; 12:132023832-132023832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6296C>A; p.S2099*; 12:132043392-132043392	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1619C>T; p.T540M; 12:131982168-131982168	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4944C>T; p.G1648G; 12:132025734-132025734	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6221T>A; p.I2074N; 12:132043317-132043317	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3469G>A; p.V1157I; 12:132013036-132013036	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4125T>A; p.S1375S; 12:132018224-132018224	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.6145C>T; p.L2049F; 12:132038034-132038034	skin	malignant_melanoma	Substitution - Missense
c.7139G>A; p.R2380H; 12:132045839-132045839	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.7017G>A; p.A2339A; 12:132045551-132045551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1117T>C; p.Y373H; 12:131961736-131961736	urinary_tract; bladder	carcinoma	Substitution - Missense
c.8658G>A; p.P2886P; 12:132066878-132066878	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1629C>T; p.P543P; 12:131982178-131982178	NS	malignant_melanoma	Substitution - coding silent
c.2969G>A; p.R990H; 12:132006145-132006145	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1629C>T; p.P543P; 12:131982178-131982178	NS	malignant_melanoma	Substitution - coding silent
c.5561T>C; p.L1854P; 12:132029880-132029880	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8658G>A; p.P2886P; 12:132066878-132066878	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.2969G>A; p.R990H; 12:132006145-132006145	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.6926T>C; p.V2309A; 12:132045460-132045460	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7151A>G; p.Q2384R; 12:132045851-132045851	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.6141G>A; p.V2047V; 12:132038030-132038030	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1129C>T; p.Q377*; 12:131961748-131961748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5248C>T; p.R1750C; 12:132028155-132028155	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5248C>T; p.R1750C; 12:132028155-132028155	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8754G>A; p.Q2918Q; 12:132067366-132067366	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1129C>T; p.Q377*; 12:131961748-131961748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1129C>T; p.Q377*; 12:131961748-131961748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5248C>T; p.R1750C; 12:132028155-132028155	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5284G>A; p.G1762R; 12:132028191-132028191	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5239G>C; p.V1747L; 12:132028146-132028146	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.8175G>A; p.Q2725Q; 12:132062542-132062542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.7416G>A; p.P2472P; 12:132053167-132053167	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	skin	malignant_melanoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	skin	malignant_melanoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	central_nervous_system; brain	glioma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	liver	carcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	skin	malignant_melanoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	central_nervous_system; brain	glioma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	prostate	carcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2483G>A; p.S828N; 12:131990037-131990037	large_intestine; colon	carcinoma	Substitution - Missense
c.8175G>A; p.Q2725Q; 12:132062542-132062542	central_nervous_system; brain	glioma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.8491G>A; p.A2831T; 12:132064824-132064824	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8491G>A; p.A2831T; 12:132064824-132064824	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8175G>A; p.Q2725Q; 12:132062542-132062542	skin	malignant_melanoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	prostate	carcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.6853G>A; p.A2285T; 12:132045387-132045387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8175G>A; p.Q2725Q; 12:132062542-132062542	central_nervous_system; brain	glioma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2483G>A; p.S828N; 12:131990037-131990037	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8491G>A; p.A2831T; 12:132064824-132064824	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8175G>A; p.Q2725Q; 12:132062542-132062542	skin	malignant_melanoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.8175G>A; p.Q2725Q; 12:132062542-132062542	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5752C>T; p.Q1918*; 12:132030156-132030156	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.8175G>A; p.Q2725Q; 12:132062542-132062542	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.874C>T; p.L292L; 12:131961493-131961493	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.8757C>A; p.T2919T; 12:132067369-132067369	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6432A>C; p.E2144D; 12:132043710-132043710	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7872T>C; p.P2624P; 12:132055196-132055196	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1819C>T; p.P607S; 12:131982368-131982368	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7872T>C; p.P2624P; 12:132055196-132055196	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7129C>T; p.R2377*; 12:132045829-132045829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6826G>T; p.V2276F; 12:132045360-132045360	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2248G>C; p.A750P; 12:131987729-131987729	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4923G>A; p.M1641I; 12:132025713-132025713	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1638C>T; p.N546N; 12:131982187-131982187	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2503G>A; p.A835T; 12:131990057-131990057	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4384C>T; p.P1462S; 12:132020155-132020155	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4923G>A; p.M1641I; 12:132025713-132025713	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6007C>T; p.L2003L; 12:132037737-132037737	skin	malignant_melanoma	Substitution - coding silent
c.2512G>A; p.A838T; 12:131990066-131990066	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.126C>T; p.F42F; 12:131960745-131960745	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.126C>T; p.F42F; 12:131960745-131960745	skin; upper_leg	malignant_melanoma	Substitution - coding silent
c.86_87insG; p.A30fs*35; 12:131960705-131960706	oesophagus	carcinoma; adenocarcinoma	Insertion - Frameshift
c.8595G>A; p.M2865I; 12:132066815-132066815	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8903G>A; p.G2968D; 12:132069523-132069523	large_intestine; rectum	NS	Substitution - Missense
c.5820T>C; p.R1940R; 12:132032018-132032018	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5767A>T; p.S1923C; 12:132031965-132031965	ovary	other; neoplasm	Substitution - Missense
c.2417G>C; p.R806T; 12:131989971-131989971	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2246T>A; p.I749N; 12:131987727-131987727	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.5767A>T; p.S1923C; 12:132031965-132031965	ovary	other; neoplasm	Substitution - Missense
c.4964G>A; p.G1655E; 12:132025754-132025754	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5249G>A; p.R1750H; 12:132028156-132028156	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5935G>T; p.D1979Y; 12:132032133-132032133	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4591C>T; p.Q1531*; 12:132021222-132021222	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.3077C>T; p.A1026V; 12:132006253-132006253	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3077C>T; p.A1026V; 12:132006253-132006253	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.8226A>G; p.Q2742Q; 12:132062593-132062593	thyroid	other; neoplasm	Substitution - coding silent
c.8226A>G; p.Q2742Q; 12:132062593-132062593	skin	malignant_melanoma	Substitution - coding silent
c.8226A>G; p.Q2742Q; 12:132062593-132062593	breast	carcinoma	Substitution - coding silent
c.8226A>G; p.Q2742Q; 12:132062593-132062593	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8226A>G; p.Q2742Q; 12:132062593-132062593	breast	carcinoma	Substitution - coding silent
c.8226A>G; p.Q2742Q; 12:132062593-132062593	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8226A>G; p.Q2742Q; 12:132062593-132062593	pancreas	carcinoma	Substitution - coding silent
c.8226A>G; p.Q2742Q; 12:132062593-132062593	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.8226A>G; p.Q2742Q; 12:132062593-132062593	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.8226A>G; p.Q2742Q; 12:132062593-132062593	skin	malignant_melanoma	Substitution - coding silent
c.8226A>G; p.Q2742Q; 12:132062593-132062593	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8226A>G; p.Q2742Q; 12:132062593-132062593	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8226A>G; p.Q2742Q; 12:132062593-132062593	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.8226A>G; p.Q2742Q; 12:132062593-132062593	skin	malignant_melanoma	Substitution - coding silent
c.8226A>G; p.Q2742Q; 12:132062593-132062593	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.8226A>G; p.Q2742Q; 12:132062593-132062593	thyroid	other; neoplasm	Substitution - coding silent
c.7988C>T; p.T2663M; 12:132062213-132062213	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.8226A>G; p.Q2742Q; 12:132062593-132062593	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.8226A>G; p.Q2742Q; 12:132062593-132062593	central_nervous_system; brain	glioma	Substitution - coding silent
c.7130G>A; p.R2377Q; 12:132045830-132045830	large_intestine; rectum	NS	Substitution - Missense
c.5267G>A; p.R1756H; 12:132028174-132028174	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1740G>A; p.Q580Q; 12:131982289-131982289	central_nervous_system; brain	glioma	Substitution - coding silent
c.6553C>T; p.L2185L; 12:132044279-132044279	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3016A>G; p.K1006E; 12:132006192-132006192	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8232G>A; p.Q2744Q; 12:132062599-132062599	skin	malignant_melanoma	Substitution - coding silent
c.8232G>A; p.Q2744Q; 12:132062599-132062599	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8232G>A; p.Q2744Q; 12:132062599-132062599	thyroid	other; neoplasm	Substitution - coding silent
c.3169G>A; p.D1057N; 12:132006742-132006742	pancreas	carcinoma	Substitution - Missense
c.4767G>A; p.P1589P; 12:132023853-132023853	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4044G>T; p.V1348V; 12:132017655-132017655	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1425A>G; p.T475T; 12:131979783-131979783	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.8756C>T; p.T2919I; 12:132067368-132067368	breast	carcinoma	Substitution - Missense
c.8184G>A; p.Q2728Q; 12:132062551-132062551	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.8184G>A; p.Q2728Q; 12:132062551-132062551	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1375A>C; p.S459R; 12:131979733-131979733	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8184G>A; p.Q2728Q; 12:132062551-132062551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1290G>A; p.E430E; 12:131961909-131961909	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8184G>A; p.Q2728Q; 12:132062551-132062551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1224G>T; p.K408N; 12:131961843-131961843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5027G>A; p.G1676D; 12:132027449-132027449	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.7775-7T>G; p.?; 12:132055092-132055092	pancreas	carcinoma	Unknown
c.7859C>T; p.S2620L; 12:132055183-132055183	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8184G>A; p.Q2728Q; 12:132062551-132062551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8184G>A; p.Q2728Q; 12:132062551-132062551	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.8565C>T; p.P2855P; 12:132066785-132066785	skin	malignant_melanoma	Substitution - coding silent
c.8184G>A; p.Q2728Q; 12:132062551-132062551	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2455G>T; p.E819*; 12:131990009-131990009	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.3099G>A; p.P1033P; 12:132006275-132006275	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.8156G>A; p.R2719K; 12:132062523-132062523	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5668A>G; p.M1890V; 12:132030072-132030072	liver	carcinoma	Substitution - Missense
c.9120G>A; p.A3040A; 12:132077421-132077421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7085C>T; p.T2362I; 12:132045785-132045785	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8156G>A; p.R2719K; 12:132062523-132062523	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.9120G>A; p.A3040A; 12:132077421-132077421	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6660C>T; p.D2220D; 12:132044829-132044829	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2994G>A; p.S998S; 12:132006170-132006170	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4790G>A; p.S1597N; 12:132023876-132023876	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8746G>A; p.A2916T; 12:132066966-132066966	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5578G>A; p.D1860N; 12:132029897-132029897	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8390C>T; p.P2797L; 12:132064723-132064723	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6660C>T; p.D2220D; 12:132044829-132044829	breast	carcinoma	Substitution - coding silent
c.6660C>T; p.D2220D; 12:132044829-132044829	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2994G>A; p.S998S; 12:132006170-132006170	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6660C>T; p.D2220D; 12:132044829-132044829	breast	carcinoma	Substitution - coding silent
c.2217A>G; p.I739M; 12:131986801-131986801	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2217A>G; p.I739M; 12:131986801-131986801	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6628C>A; p.P2210T; 12:132044713-132044713	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8108T>C; p.V2703A; 12:132062475-132062475	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8208G>A; p.Q2736Q; 12:132062575-132062575	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2409+3G>A; p.?; 12:131987893-131987893	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.9173C>T; p.T3058I; 12:132077474-132077474	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3678G>T; p.V1226V; 12:132013556-132013556	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2178G>A; p.S726S; 12:131986762-131986762	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5626T>A; p.S1876T; 12:132030030-132030030	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.224C>T; p.T75I; 12:131960843-131960843	skin	malignant_melanoma	Substitution - Missense
c.4758A>G; p.P1586P; 12:132023844-132023844	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1533G>A; p.P511P; 12:131981586-131981586	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.4758A>G; p.P1586P; 12:132023844-132023844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2201C>T; p.T734M; 12:131986785-131986785	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4758A>G; p.P1586P; 12:132023844-132023844	thyroid	other; neoplasm	Substitution - coding silent
c.3036T>A; p.N1012K; 12:132006212-132006212	breast	carcinoma	Substitution - Missense
c.4047G>A; p.A1349A; 12:132017658-132017658	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.8940C>A; p.A2980A; 12:132069560-132069560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2516G>A; p.R839Q; 12:131990070-131990070	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2029G>A; p.G677S; 12:131986613-131986613	prostate	carcinoma	Substitution - Missense
c.5321C>T; p.P1774L; 12:132028228-132028228	skin; neck	malignant_melanoma	Substitution - Missense
c.1578C>T; p.L526L; 12:131982127-131982127	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2863G>A; p.E955K; 12:132005112-132005112	liver	carcinoma	Substitution - Missense
c.3325G>C; p.V1109L; 12:132011518-132011518	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2863G>A; p.E955K; 12:132005112-132005112	liver	carcinoma	Substitution - Missense
c.8634G>A; p.A2878A; 12:132066854-132066854	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2989G>A; p.D997N; 12:132006165-132006165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2989G>A; p.D997N; 12:132006165-132006165	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5141T>C; p.L1714P; 12:132028048-132028048	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4319G>A; p.R1440H; 12:132020090-132020090	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2735A>C; p.E912A; 12:131992228-131992228	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7931C>T; p.P2644L; 12:132062156-132062156	breast	carcinoma	Substitution - Missense
c.8010C>T; p.V2670V; 12:132062235-132062235	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.502delG; p.G169fs*9; 12:131961121-131961121	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1673C>T; p.P558L; 12:131982222-131982222	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8703C>T; p.N2901N; 12:132066923-132066923	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.8202G>A; p.Q2734Q; 12:132062569-132062569	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7748C>T; p.S2583L; 12:132054993-132054993	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2453G>A; p.R818H; 12:131990007-131990007	ovary	carcinoma	Substitution - Missense
c.8925C>T; p.Y2975Y; 12:132069545-132069545	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.7748C>T; p.S2583L; 12:132054993-132054993	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.9044T>C; p.V3015A; 12:132076538-132076538	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3901G>A; p.E1301K; 12:132013891-132013891	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6047T>A; p.M2016K; 12:132037777-132037777	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2521A>G; p.I841V; 12:131990075-131990075	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.356C>T; p.S119L; 12:131960975-131960975	skin	malignant_melanoma	Substitution - Missense
c.5258T>C; p.L1753P; 12:132028165-132028165	kidney	other; neoplasm	Substitution - Missense
c.7261C>T; p.H2421Y; 12:132050383-132050383	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2950C>T; p.P984S; 12:132006126-132006126	skin	malignant_melanoma	Substitution - Missense
c.7729G>C; p.A2577P; 12:132054974-132054974	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6454G>A; p.A2152T; 12:132044180-132044180	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5402C>T; p.P1801L; 12:132029721-132029721	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8253G>A; p.T2751T; 12:132062620-132062620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8260C>T; p.Q2754*; 12:132062627-132062627	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5872G>T; p.D1958Y; 12:132032070-132032070	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4499A>C; p.H1500P; 12:132021130-132021130	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1404G>A; p.R468R; 12:131979762-131979762	liver	carcinoma	Substitution - coding silent
c.2429G>A; p.R810H; 12:131989983-131989983	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8156_8157insGCA; p.Q2748_T2749insQ; 12:132062523-132062524	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8156_8157insGCA; p.Q2748_T2749insQ; 12:132062523-132062524	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8156_8157insGCA; p.Q2748_T2749insQ; 12:132062523-132062524	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8156_8157insGCA; p.Q2748_T2749insQ; 12:132062523-132062524	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2429G>A; p.R810H; 12:131989983-131989983	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6546G>A; p.A2182A; 12:132044272-132044272	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2429G>A; p.R810H; 12:131989983-131989983	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1404G>A; p.R468R; 12:131979762-131979762	liver	carcinoma	Substitution - coding silent
c.4872C>T; p.I1624I; 12:132025662-132025662	skin	malignant_melanoma	Substitution - coding silent
c.4275C>T; p.S1425S; 12:132018374-132018374	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.169C>G; p.Q57E; 12:131960788-131960788	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3025G>A; p.E1009K; 12:132006201-132006201	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8156_8157insGCA; p.Q2748_T2749insQ; 12:132062523-132062524	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.6637A>C; p.T2213P; 12:132044806-132044806	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6046A>G; p.M2016V; 12:132037776-132037776	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1950C>T; p.L650L; 12:131986534-131986534	skin	malignant_melanoma	Substitution - coding silent
c.6637A>C; p.T2213P; 12:132044806-132044806	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6977G>T; p.G2326V; 12:132045511-132045511	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5073C>T; p.A1691A; 12:132027495-132027495	skin	malignant_melanoma	Substitution - coding silent
c.6637A>C; p.T2213P; 12:132044806-132044806	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6637A>C; p.T2213P; 12:132044806-132044806	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6637A>C; p.T2213P; 12:132044806-132044806	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1077G>T; p.P359P; 12:131961696-131961696	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6637A>C; p.T2213P; 12:132044806-132044806	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7958C>T; p.T2653M; 12:132062183-132062183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6637A>C; p.T2213P; 12:132044806-132044806	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6637A>C; p.T2213P; 12:132044806-132044806	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4171G>A; p.A1391T; 12:132018270-132018270	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1967C>T; p.P656L; 12:131986551-131986551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4710A>T; p.I1570I; 12:132023796-132023796	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5989_5990insA; p.N1998fs*4; 12:132037719-132037720	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.2360C>A; p.A787D; 12:131987841-131987841	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6678C>T; p.L2226L; 12:132044847-132044847	skin	malignant_melanoma	Substitution - coding silent
c.5303C>A; p.T1768N; 12:132028210-132028210	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6688A>G; p.M2230V; 12:132044857-132044857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6713C>T; p.P2238L; 12:132044882-132044882	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2151A>G; p.P717P; 12:131986735-131986735	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4184C>G; p.S1395C; 12:132018283-132018283	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3520C>T; p.R1174*; 12:132013087-132013087	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.8991C>T; p.A2997A; 12:132069611-132069611	prostate	carcinoma	Substitution - coding silent
c.7473+1G>T; p.?; 12:132053225-132053225	lung	carcinoma; adenocarcinoma	Unknown
c.2734G>T; p.E912*; 12:131992227-131992227	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1732G>A; p.A578T; 12:131982281-131982281	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8152C>A; p.L2718I; 12:132062519-132062519	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.9363G>A; p.P3121P; 12:132077664-132077664	breast	carcinoma	Substitution - coding silent
c.5163C>T; p.N1721N; 12:132028070-132028070	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4004C>T; p.P1335L; 12:132017615-132017615	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6127G>A; p.A2043T; 12:132038016-132038016	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3480G>A; p.T1160T; 12:132013047-132013047	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3619C>T; p.R1207C; 12:132013497-132013497	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5487G>C; p.L1829L; 12:132029806-132029806	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2988C>T; p.I996I; 12:132006164-132006164	skin	malignant_melanoma	Substitution - coding silent
c.8284G>A; p.G2762S; 12:132062651-132062651	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2112C>T; p.S704S; 12:131986696-131986696	skin	malignant_melanoma	Substitution - coding silent
c.7016C>T; p.A2339V; 12:132045550-132045550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4421C>T; p.T1474M; 12:132020192-132020192	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1674C>T; p.P558P; 12:131982223-131982223	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4282T>C; p.F1428L; 12:132020053-132020053	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8223G>A; p.Q2741Q; 12:132062590-132062590	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.8223G>A; p.Q2741Q; 12:132062590-132062590	skin	malignant_melanoma	Substitution - coding silent
c.3769G>C; p.V1257L; 12:132013647-132013647	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.89C>A; p.A30D; 12:131960708-131960708	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2605A>C; p.N869H; 12:131990690-131990690	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8457G>A; p.P2819P; 12:132064790-132064790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7886C>T; p.T2629M; 12:132062111-132062111	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8812G>A; p.V2938I; 12:132067424-132067424	NS	NS	Substitution - Missense
c.554C>T; p.S185F; 12:131961173-131961173	skin	malignant_melanoma	Substitution - Missense
c.3972C>T; p.I1324I; 12:132017583-132017583	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.7221C>T; p.L2407L; 12:132050343-132050343	skin	malignant_melanoma	Substitution - coding silent
c.6650C>T; p.P2217L; 12:132044819-132044819	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2036G>C; p.G679A; 12:131986620-131986620	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7376C>T; p.A2459V; 12:132050637-132050637	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.7221C>T; p.L2407L; 12:132050343-132050343	skin	malignant_melanoma	Substitution - coding silent
c.9192T>C; p.V3064V; 12:132077493-132077493	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6045C>T; p.S2015S; 12:132037775-132037775	skin	malignant_melanoma	Substitution - coding silent
c.1537G>A; p.A513T; 12:131981590-131981590	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9174C>T; p.T3058T; 12:132077475-132077475	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1296G>A; p.E432E; 12:131961915-131961915	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.8181_8182insCAGCAGCAG; p.Q2748_T2749insQQQ; 12:132062548-132062549	skin; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.1296G>A; p.E432E; 12:131961915-131961915	skin	malignant_melanoma	Substitution - coding silent
c.4021C>G; p.R1341G; 12:132017632-132017632	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8829C>T; p.A2943A; 12:132067441-132067441	skin	malignant_melanoma	Substitution - coding silent
c.5629G>A; p.E1877K; 12:132030033-132030033	breast	carcinoma	Substitution - Missense
c.6737C>T; p.P2246L; 12:132044906-132044906	skin	malignant_melanoma	Substitution - Missense
c.1686C>T; p.P562P; 12:131982235-131982235	skin	malignant_melanoma	Substitution - coding silent
c.1027G>A; p.G343R; 12:131961646-131961646	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3301G>A; p.E1101K; 12:132006874-132006874	skin; subungual	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.1280A>G; p.E427G; 12:131961899-131961899	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3301G>A; p.E1101K; 12:132006874-132006874	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.3276delT; p.F1094fs*4; 12:132006849-132006849	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5132A>G; p.K1711R; 12:132028039-132028039	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.8652C>T; p.S2884S; 12:132066872-132066872	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1348G>A; p.A450T; 12:131979706-131979706	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1348G>A; p.A450T; 12:131979706-131979706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2613G>T; p.Q871H; 12:131990698-131990698	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2080G>A; p.A694T; 12:131986664-131986664	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8959A>G; p.T2987A; 12:132069579-132069579	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.146C>A; p.S49*; 12:131960765-131960765	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6851G>A; p.R2284H; 12:132045385-132045385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.108_109delGT; p.S37fs*27; 12:131960727-131960728	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7979C>T; p.S2660F; 12:132062204-132062204	skin	malignant_melanoma	Substitution - Missense
c.6851G>A; p.R2284H; 12:132045385-132045385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8706C>T; p.V2902V; 12:132066926-132066926	breast	carcinoma	Substitution - coding silent
c.2766G>T; p.E922D; 12:131994895-131994895	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.283delC; p.P95fs*83; 12:131960902-131960902	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7069G>A; p.V2357M; 12:132045769-132045769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4351C>T; p.R1451W; 12:132020122-132020122	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3484T>C; p.Y1162H; 12:132013051-132013051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2762A>T; p.E921V; 12:131994891-131994891	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.7905C>T; p.P2635P; 12:132062130-132062130	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2600C>T; p.A867V; 12:131990685-131990685	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4351C>T; p.R1451W; 12:132020122-132020122	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4229C>T; p.S1410L; 12:132018328-132018328	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.134C>T; p.S45L; 12:131960753-131960753	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4001A>C; p.H1334P; 12:132017612-132017612	breast	carcinoma	Substitution - Missense
c.8657C>A; p.P2886Q; 12:132066877-132066877	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5393T>A; p.V1798E; 12:132029712-132029712	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.7459G>A; p.A2487T; 12:132053210-132053210	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4132G>T; p.D1378Y; 12:132018231-132018231	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1791G>A; p.Q597Q; 12:131982340-131982340	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.7459G>A; p.A2487T; 12:132053210-132053210	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7459G>A; p.A2487T; 12:132053210-132053210	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8061G>T; p.Q2687H; 12:132062286-132062286	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.8211G>A; p.Q2737Q; 12:132062578-132062578	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4355C>T; p.T1452M; 12:132020126-132020126	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7081C>T; p.H2361Y; 12:132045781-132045781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8184_8185insCAG; p.Q2748_T2749insQ; 12:132062551-132062552	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8184_8185insCAG; p.Q2748_T2749insQ; 12:132062551-132062552	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8184_8185insCAG; p.Q2748_T2749insQ; 12:132062551-132062552	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8184_8185insCAG; p.Q2748_T2749insQ; 12:132062551-132062552	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8184_8185insCAG; p.Q2748_T2749insQ; 12:132062551-132062552	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8184_8185insCAG; p.Q2748_T2749insQ; 12:132062551-132062552	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8184_8185insCAG; p.Q2748_T2749insQ; 12:132062551-132062552	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8184_8185insCAG; p.Q2748_T2749insQ; 12:132062551-132062552	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8184_8185insCAG; p.Q2748_T2749insQ; 12:132062551-132062552	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8184_8185insCAG; p.Q2748_T2749insQ; 12:132062551-132062552	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8184_8185insCAG; p.Q2748_T2749insQ; 12:132062551-132062552	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8184_8185insCAG; p.Q2748_T2749insQ; 12:132062551-132062552	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8184_8185insCAG; p.Q2748_T2749insQ; 12:132062551-132062552	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.3095T>G; p.L1032R; 12:132006271-132006271	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.97A>C; p.N33H; 12:131960716-131960716	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7317G>T; p.R2439S; 12:132050439-132050439	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.8214G>A; p.Q2738Q; 12:132062581-132062581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.97A>C; p.N33H; 12:131960716-131960716	liver	carcinoma	Substitution - Missense
c.8553+1G>A; p.?; 12:132064887-132064887	pancreas	carcinoma	Unknown
c.97A>C; p.N33H; 12:131960716-131960716	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5142G>A; p.L1714L; 12:132028049-132028049	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.5142G>A; p.L1714L; 12:132028049-132028049	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.97A>C; p.N33H; 12:131960716-131960716	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.97A>C; p.N33H; 12:131960716-131960716	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]