lung cancer gene and literature database Home

Annotation category 5

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

Gene information

Gene ID	6091
Symbol	ROBO1
Synonymous	DUTT1\|SAX3
Full name	roundabout, axon guidance receptor, homolog 1 (Drosophila)
Gene description	deleted in U twenty twenty\|roundabout homolog 1
Cytoband	3p12
Gene type	protein-coding
Synonymous	MIM:602430; HGNC:HGNC:10249; Ensembl:ENSG00000169855; HPRD:03890; Vega:OTTHUMG00000158843

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.954G>T; p.R318S; 3:78714488-78714488	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3016C>A; p.L1006I; 3:78639765-78639765	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4360G>T; p.V1454L; 3:78614723-78614723	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.1234G>A; p.D412N; 3:78685854-78685854	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.309A>C; p.K103N; 3:78938791-78938791	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3185G>A; p.R1062H; 3:78635961-78635961	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.233T>G; p.I78S; 3:78938867-78938867	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1093G>T; p.G365*; 3:78688725-78688725	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4525C>T; p.P1509S; 3:78606952-78606952	skin	malignant_melanoma	Substitution - Missense
c.3185G>A; p.R1062H; 3:78635961-78635961	central_nervous_system; brain	glioma	Substitution - Missense
c.939T>C; p.H313H; 3:78714503-78714503	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3187T>C; p.F1063L; 3:78635959-78635959	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4258C>T; p.R1420*; 3:78617659-78617659	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.4662G>T; p.Q1554H; 3:78606815-78606815	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.38C>T; p.S13L; 3:79589874-79589874	skin	malignant_melanoma	Substitution - Missense
c.1206C>T; p.S402S; 3:78685882-78685882	thyroid	other; neoplasm	Substitution - coding silent
c.1740G>C; p.S580S; 3:78668193-78668193	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1178T>G; p.L393R; 3:78685910-78685910	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.906G>T; p.L302L; 3:78717286-78717286	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.152A>T; p.D51V; 3:79125476-79125476	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.906G>T; p.L302L; 3:78717286-78717286	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4798G>A; p.D1600N; 3:78600256-78600256	skin	malignant_melanoma	Substitution - Missense
c.3582T>G; p.P1194P; 3:78631205-78631205	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.2395C>T; p.Q799*; 3:78659733-78659733	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.26delT; p.L9fs*3; 3:79589886-79589886	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2743A>G; p.S915G; 3:78651801-78651801	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2842A>G; p.T948A; 3:78646188-78646188	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1372C>T; p.R458*; 3:78670272-78670272	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.536T>C; p.V179A; 3:78746864-78746864	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.168T>C; p.Y56Y; 3:79125460-79125460	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4630C>T; p.R1544*; 3:78606847-78606847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1224C>T; p.S408S; 3:78685864-78685864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4816T>C; p.S1606P; 3:78600238-78600238	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3497A>T; p.K1166M; 3:78631290-78631290	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.356G>A; p.R119Q; 3:78938744-78938744	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1963C>T; p.Q655*; 3:78667886-78667886	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.367C>T; p.P123S; 3:78938733-78938733	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.833G>A; p.S278N; 3:78717359-78717359	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3971C>T; p.T1324M; 3:78617946-78617946	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2855G>A; p.G952E; 3:78646175-78646175	breast	carcinoma	Substitution - Missense
c.2768A>C; p.K923T; 3:78651776-78651776	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2768A>C; p.K923T; 3:78651776-78651776	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.3104C>G; p.S1035*; 3:78636042-78636042	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2417A>C; p.Q806P; 3:78659711-78659711	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.62A>C; p.H21P; 3:79589850-79589850	breast	carcinoma	Substitution - Missense
c.3563C>T; p.P1188L; 3:78631224-78631224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2166C>A; p.D722E; 3:78661184-78661184	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2361T>A; p.N787K; 3:78659767-78659767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1113G>A; p.Q371Q; 3:78688705-78688705	liver	carcinoma	Substitution - coding silent
c.3749C>T; p.P1250L; 3:78627447-78627447	skin	malignant_melanoma	Substitution - Missense
c.3412T>C; p.Y1138H; 3:78634004-78634004	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4533C>T; p.L1511L; 3:78606944-78606944	skin	malignant_melanoma	Substitution - coding silent
c.3025T>C; p.Y1009H; 3:78639756-78639756	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3878G>A; p.R1293Q; 3:78618039-78618039	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4504G>A; p.E1502K; 3:78606973-78606973	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1072C>T; p.R358C; 3:78688746-78688746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4054G>A; p.E1352K; 3:78617863-78617863	skin	malignant_melanoma	Substitution - Missense
c.3508A>G; p.R1170G; 3:78631279-78631279	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4503G>T; p.L1501L; 3:78606974-78606974	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.4359C>T; p.A1453A; 3:78614724-78614724	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3221C>T; p.A1074V; 3:78635925-78635925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4359C>T; p.A1453A; 3:78614724-78614724	skin	malignant_melanoma	Substitution - coding silent
c.366G>T; p.L122L; 3:78938734-78938734	pancreas	carcinoma	Substitution - coding silent
c.4179G>A; p.S1393S; 3:78617738-78617738	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4814G>A; p.S1605N; 3:78600240-78600240	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2576G>T; p.G859V; 3:78657136-78657136	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4899T>C; p.L1633L; 3:78600155-78600155	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1254C>T; p.V418V; 3:78685834-78685834	skin	malignant_melanoma	Substitution - coding silent
c.4248G>A; p.L1416L; 3:78617669-78617669	skin	malignant_melanoma	Substitution - coding silent
c.742delG; p.E248fs*6; 3:78717799-78717799	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2197_2215del19; p.K733fs*44; 3:78661135-78661153	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.3947G>T; p.G1316V; 3:78617970-78617970	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2215C>T; p.P739S; 3:78661135-78661135	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.91C>A; p.P31T; 3:79125537-79125537	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.20C>A; p.P7H; 3:79589892-79589892	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.20C>A; p.P7H; 3:79589892-79589892	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.321_322delAG; p.R107fs*7; 3:78938778-78938779	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1951C>G; p.P651A; 3:78667898-78667898	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.614A>C; p.K205T; 3:78746786-78746786	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4631G>A; p.R1544Q; 3:78606846-78606846	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4330G>C; p.V1444L; 3:78614753-78614753	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3472A>G; p.S1158G; 3:78633944-78633944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2538_2539CC>TT; p.R847*; 3:78657173-78657174	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.935A>T; p.D312V; 3:78714507-78714507	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4259G>C; p.R1420P; 3:78617658-78617658	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.158C>T; p.S53L; 3:79125470-79125470	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3444A>G; p.G1148G; 3:78633972-78633972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1287G>T; p.Q429H; 3:78685801-78685801	breast	carcinoma	Substitution - Missense
c.4248G>C; p.L1416L; 3:78617669-78617669	breast	carcinoma	Substitution - coding silent
c.4262G>T; p.R1421L; 3:78617655-78617655	liver	carcinoma	Substitution - Missense
c.4262G>T; p.R1421L; 3:78617655-78617655	liver	carcinoma	Substitution - Missense
c.948A>C; p.K316N; 3:78714494-78714494	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4523T>A; p.V1508E; 3:78606954-78606954	skin	malignant_melanoma	Substitution - Missense
c.2649A>C; p.Q883H; 3:78651895-78651895	pancreas	carcinoma	Substitution - Missense
c.584G>T; p.R195L; 3:78746816-78746816	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2074G>A; p.E692K; 3:78662007-78662007	skin	malignant_melanoma	Substitution - Missense
c.658-4delT; p.?; 3:78717887-78717887	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.2074G>A; p.E692K; 3:78662007-78662007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2649A>C; p.Q883H; 3:78651895-78651895	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2716G>A; p.A906T; 3:78651828-78651828	pancreas	carcinoma	Substitution - Missense
c.157T>A; p.S53T; 3:79125471-79125471	liver	carcinoma	Substitution - Missense
c.408delG; p.S138fs*11; 3:78938692-78938692	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4933G>T; p.E1645*; 3:78600121-78600121	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4155C>T; p.S1385S; 3:78617762-78617762	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2053G>A; p.V685I; 3:78662028-78662028	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4885G>C; p.E1629Q; 3:78600169-78600169	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3547G>T; p.A1183S; 3:78631240-78631240	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3481G>T; p.G1161W; 3:78633935-78633935	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4567G>C; p.D1523H; 3:78606910-78606910	breast	carcinoma	Substitution - Missense
c.3398C>T; p.P1133L; 3:78634018-78634018	skin	malignant_melanoma	Substitution - Missense
c.4436-1G>A; p.?; 3:78607042-78607042	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.887G>T; p.R296M; 3:78717305-78717305	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2798C>T; p.A933V; 3:78651746-78651746	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3608A>C; p.N1203T; 3:78631179-78631179	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2077G>A; p.V693M; 3:78662004-78662004	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1913A>C; p.N638T; 3:78667936-78667936	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3470G>T; p.S1157I; 3:78633946-78633946	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3971C>G; p.T1324R; 3:78617946-78617946	pancreas	carcinoma	Substitution - Missense
c.881G>A; p.R294Q; 3:78717311-78717311	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3399T>C; p.P1133P; 3:78634017-78634017	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4293T>G; p.H1431Q; 3:78614790-78614790	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2041C>T; p.H681Y; 3:78662040-78662040	liver	carcinoma	Substitution - Missense
c.1370T>C; p.I457T; 3:78670274-78670274	liver	carcinoma	Substitution - Missense
c.2265delT; p.F755fs*28; 3:78661085-78661085	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2265delT; p.F755fs*28; 3:78661085-78661085	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2265delT; p.F755fs*28; 3:78661085-78661085	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2265delT; p.F755fs*28; 3:78661085-78661085	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4702G>A; p.A1568T; 3:78606775-78606775	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2155G>A; p.G719R; 3:78661195-78661195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.530C>T; p.S177L; 3:78746870-78746870	skin	malignant_melanoma	Substitution - Missense
c.2688G>T; p.Q896H; 3:78651856-78651856	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4100C>T; p.T1367M; 3:78617817-78617817	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.530C>T; p.S177L; 3:78746870-78746870	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2214C>T; p.I738I; 3:78661136-78661136	skin	malignant_melanoma	Substitution - coding silent
c.4100C>T; p.T1367M; 3:78617817-78617817	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2751G>T; p.W917C; 3:78651793-78651793	pancreas	carcinoma	Substitution - Missense
c.463G>T; p.E155*; 3:78938637-78938637	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3423A>T; p.S1141S; 3:78633993-78633993	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2879G>A; p.G960E; 3:78646151-78646151	skin	malignant_melanoma	Substitution - Missense
c.4008G>T; p.M1336I; 3:78617909-78617909	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.83T>C; p.I28T; 3:79589829-79589829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.907C>T; p.P303S; 3:78717285-78717285	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3041A>G; p.D1014G; 3:78636105-78636105	liver	carcinoma	Substitution - Missense
c.3348C>T; p.I1116I; 3:78635798-78635798	skin	malignant_melanoma	Substitution - coding silent
c.3041A>G; p.D1014G; 3:78636105-78636105	liver	carcinoma	Substitution - Missense
c.3041A>G; p.D1014G; 3:78636105-78636105	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.853G>A; p.A285T; 3:78717339-78717339	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.245G>T; p.G82V; 3:78938855-78938855	liver	carcinoma	Substitution - Missense
c.4777C>A; p.P1593T; 3:78600277-78600277	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3445T>C; p.S1149P; 3:78633971-78633971	liver	carcinoma	Substitution - Missense
c.368C>T; p.P123L; 3:78938732-78938732	pancreas	carcinoma	Substitution - Missense
c.1284C>T; p.C428C; 3:78685804-78685804	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.206G>A; p.R69H; 3:78938894-78938894	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.33G>A; p.M11I; 3:79589879-79589879	skin	malignant_melanoma	Substitution - Missense
c.3768C>T; p.S1256S; 3:78627428-78627428	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.33G>A; p.M11I; 3:79589879-79589879	skin	malignant_melanoma	Substitution - Missense
c.1755G>A; p.L585L; 3:78668178-78668178	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3181G>T; p.G1061W; 3:78635965-78635965	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3G>A; p.M1I; 3:79589909-79589909	skin	malignant_melanoma	Substitution - Missense
c.2687A>G; p.Q896R; 3:78651857-78651857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3301C>T; p.P1101S; 3:78635845-78635845	liver	carcinoma	Substitution - Missense
c.3156C>A; p.T1052T; 3:78635990-78635990	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2429T>G; p.V810G; 3:78659699-78659699	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3642G>T; p.M1214I; 3:78627554-78627554	large_intestine; colon	adenoma	Substitution - Missense
c.3301C>T; p.P1101S; 3:78635845-78635845	liver	carcinoma	Substitution - Missense
c.3901C>T; p.P1301S; 3:78618016-78618016	skin	malignant_melanoma	Substitution - Missense
c.4436-2A>T; p.?; 3:78607043-78607043	lung	carcinoma; adenocarcinoma	Unknown
c.4909G>A; p.E1637K; 3:78600145-78600145	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4328C>T; p.P1443L; 3:78614755-78614755	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1740G>A; p.S580S; 3:78668193-78668193	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2104C>T; p.Q702*; 3:78661246-78661246	skin	malignant_melanoma	Substitution - Nonsense
c.126G>A; p.T42T; 3:79125502-79125502	skin	malignant_melanoma	Substitution - coding silent
c.3127C>A; p.L1043I; 3:78636019-78636019	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2731C>T; p.L911F; 3:78651813-78651813	skin	malignant_melanoma	Substitution - Missense
c.126G>A; p.T42T; 3:79125502-79125502	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4156G>A; p.G1386R; 3:78617761-78617761	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.461G>A; p.G154E; 3:78938639-78938639	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4156G>A; p.G1386R; 3:78617761-78617761	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2860G>A; p.E954K; 3:78646170-78646170	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1076A>G; p.D359G; 3:78688742-78688742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3314A>G; p.Q1105R; 3:78635832-78635832	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.567G>T; p.M189I; 3:78746833-78746833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.856C>T; p.R286*; 3:78717336-78717336	skin	malignant_melanoma	Substitution - Nonsense
c.1821G>A; p.W607*; 3:78668028-78668028	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1655C>T; p.P552L; 3:78668278-78668278	skin	malignant_melanoma	Substitution - Missense
c.1646T>C; p.V549A; 3:78668287-78668287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4159C>T; p.R1387C; 3:78617758-78617758	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4159C>T; p.R1387C; 3:78617758-78617758	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4159C>T; p.R1387C; 3:78617758-78617758	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2019G>T; p.L673L; 3:78662062-78662062	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2509G>A; p.V837M; 3:78657203-78657203	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3731G>A; p.R1244Q; 3:78627465-78627465	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.40C>A; p.L14I; 3:79589872-79589872	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.151G>A; p.D51N; 3:79125477-79125477	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4798G>T; p.D1600Y; 3:78600256-78600256	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4798G>T; p.D1600Y; 3:78600256-78600256	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3032G>A; p.R1011H; 3:78639749-78639749	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4708C>T; p.R1570*; 3:78606769-78606769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1259G>T; p.R420L; 3:78685829-78685829	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4603T>G; p.L1535V; 3:78606874-78606874	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4283-9delT; p.?; 3:78614809-78614809	liver	carcinoma	Unknown
c.1630+1G>T; p.?; 3:78668483-78668483	lung	carcinoma; adenocarcinoma	Unknown
c.2297A>T; p.K766M; 3:78661053-78661053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.509A>G; p.D170G; 3:78746891-78746891	pancreas	carcinoma	Substitution - Missense
c.329C>T; p.T110I; 3:78938771-78938771	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4844G>C; p.R1615T; 3:78600210-78600210	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4874G>T; p.R1625I; 3:78600180-78600180	breast	carcinoma	Substitution - Missense
c.4874G>T; p.R1625I; 3:78600180-78600180	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4214A>T; p.Q1405L; 3:78617703-78617703	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3608A>G; p.N1203S; 3:78631179-78631179	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2549T>C; p.V850A; 3:78657163-78657163	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4286G>A; p.R1429H; 3:78614797-78614797	liver	carcinoma	Substitution - Missense
c.4514C>A; p.P1505H; 3:78606963-78606963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4286G>A; p.R1429H; 3:78614797-78614797	liver	carcinoma	Substitution - Missense
c.4360G>A; p.V1454I; 3:78614723-78614723	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3642G>A; p.M1214I; 3:78627554-78627554	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4532T>C; p.L1511P; 3:78606945-78606945	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3307G>A; p.G1103R; 3:78635839-78635839	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1140A>T; p.P380P; 3:78688678-78688678	breast	carcinoma	Substitution - coding silent
c.4772C>A; p.T1591N; 3:78600282-78600282	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.2415T>C; p.T805T; 3:78659713-78659713	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.110G>A; p.G37E; 3:79125518-79125518	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4677C>T; p.D1559D; 3:78606800-78606800	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.4138G>A; p.E1380K; 3:78617779-78617779	breast	carcinoma	Substitution - Missense
c.2192_2193CA>AG; p.P731Q; 3:78661157-78661158	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.880C>T; p.R294*; 3:78717312-78717312	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.486G>A; p.S162S; 3:78938614-78938614	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1905G>T; p.R635S; 3:78667944-78667944	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3597C>T; p.S1199S; 3:78631190-78631190	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2357A>C; p.K786T; 3:78659771-78659771	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1010G>T; p.G337V; 3:78714432-78714432	liver	carcinoma	Substitution - Missense
c.4231G>A; p.A1411T; 3:78617686-78617686	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.148G>A; p.D50N; 3:79125480-79125480	skin	malignant_melanoma	Substitution - Missense
c.148G>A; p.D50N; 3:79125480-79125480	skin	malignant_melanoma	Substitution - Missense
c.1010G>T; p.G337V; 3:78714432-78714432	liver	carcinoma	Substitution - Missense
c.637G>A; p.D213N; 3:78746763-78746763	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2914G>A; p.A972T; 3:78639867-78639867	pancreas	carcinoma	Substitution - Missense
c.2930C>T; p.A977V; 3:78639851-78639851	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2816C>T; p.P939L; 3:78647652-78647652	skin	malignant_melanoma	Substitution - Missense
c.253G>A; p.A85T; 3:78938847-78938847	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2914G>A; p.A972T; 3:78639867-78639867	pancreas	carcinoma	Substitution - Missense
c.4694A>G; p.N1565S; 3:78606783-78606783	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.661C>T; p.R221*; 3:78717880-78717880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2914G>A; p.A972T; 3:78639867-78639867	pancreas	carcinoma	Substitution - Missense
c.2788A>G; p.S930G; 3:78651756-78651756	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.555G>A; p.E185E; 3:78746845-78746845	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2706T>A; p.G902G; 3:78651838-78651838	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3220G>T; p.A1074S; 3:78635926-78635926	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4276G>T; p.A1426S; 3:78617641-78617641	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.185G>A; p.R62H; 3:78938915-78938915	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.4168G>C; p.V1390L; 3:78617749-78617749	breast	carcinoma	Substitution - Missense
c.2988G>A; p.T996T; 3:78639793-78639793	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1929T>C; p.S643S; 3:78667920-78667920	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.3553C>T; p.L1185L; 3:78631234-78631234	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.185G>A; p.R62H; 3:78938915-78938915	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3981A>G; p.P1327P; 3:78617936-78617936	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.156T>G; p.N52K; 3:79125472-79125472	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1210C>T; p.R404*; 3:78685878-78685878	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.763G>A; p.E255K; 3:78717778-78717778	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4678G>A; p.G1560R; 3:78606799-78606799	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4506A>T; p.E1502D; 3:78606971-78606971	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2690C>A; p.P897Q; 3:78651854-78651854	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.806G>A; p.S269N; 3:78717386-78717386	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1054C>A; p.H352N; 3:78688764-78688764	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1278C>T; p.Y426Y; 3:78685810-78685810	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.272C>G; p.A91G; 3:78938828-78938828	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1590C>T; p.P530P; 3:78668524-78668524	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.404G>T; p.G135V; 3:78938696-78938696	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1416C>T; p.F472F; 3:78670228-78670228	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.838G>T; p.E280*; 3:78717354-78717354	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2724G>A; p.W908*; 3:78651820-78651820	breast	carcinoma	Substitution - Nonsense
c.89-6C>T; p.?; 3:79125545-79125545	pancreas	carcinoma	Unknown
c.34A>G; p.I12V; 3:79589878-79589878	urinary_tract; bladder	carcinoma	Substitution - Missense
c.89-6C>T; p.?; 3:79125545-79125545	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.280C>T; p.R94C; 3:78938820-78938820	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9G>C; p.W3C; 3:79589903-79589903	breast	carcinoma	Substitution - Missense
c.2539C>T; p.R847*; 3:78657173-78657173	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3912G>A; p.P1304P; 3:78618005-78618005	skin	malignant_melanoma	Substitution - coding silent
c.88+2T>A; p.?; 3:79589822-79589822	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.1236C>A; p.D412E; 3:78685852-78685852	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1224C>A; p.S408S; 3:78685864-78685864	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4160G>A; p.R1387H; 3:78617757-78617757	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1462T>A; p.W488R; 3:78670182-78670182	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4435+2T>C; p.?; 3:78614646-78614646	stomach	carcinoma; adenocarcinoma	Unknown
c.4289G>A; p.R1430Q; 3:78614794-78614794	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.178C>T; p.R60C; 3:78938922-78938922	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4915G>A; p.G1639R; 3:78600139-78600139	urinary_tract; bladder	carcinoma	Substitution - Missense
c.178C>T; p.R60C; 3:78938922-78938922	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2793C>A; p.T931T; 3:78651751-78651751	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2793C>A; p.T931T; 3:78651751-78651751	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3710G>A; p.R1237Q; 3:78627486-78627486	urinary_tract; bladder	carcinoma	Substitution - Missense
c.583C>T; p.R195*; 3:78746817-78746817	oesophagus	carcinoma	Substitution - Nonsense
c.583C>T; p.R195*; 3:78746817-78746817	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4521G>A; p.V1507V; 3:78606956-78606956	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.827A>G; p.D276G; 3:78717365-78717365	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1682C>A; p.P561H; 3:78668251-78668251	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3877C>T; p.R1293W; 3:78618040-78618040	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4723G>T; p.A1575S; 3:78606754-78606754	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.449G>A; p.R150K; 3:78938651-78938651	pancreas	carcinoma	Substitution - Missense
c.4414C>T; p.R1472C; 3:78614669-78614669	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4414C>T; p.R1472C; 3:78614669-78614669	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4414C>T; p.R1472C; 3:78614669-78614669	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3614C>A; p.S1205Y; 3:78631173-78631173	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4871G>A; p.R1624Q; 3:78600183-78600183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1921G>A; p.G641R; 3:78667928-78667928	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.4511G>A; p.R1504Q; 3:78606966-78606966	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4283G>A; p.G1428D; 3:78614800-78614800	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4674T>C; p.N1558N; 3:78606803-78606803	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.17T>C; p.V6A; 3:79589895-79589895	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2279G>A; p.G760E; 3:78661071-78661071	skin	malignant_melanoma	Substitution - Missense
c.4815C>T; p.S1605S; 3:78600239-78600239	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2355C>T; p.S785S; 3:78659773-78659773	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4174T>G; p.S1392A; 3:78617743-78617743	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1073G>A; p.R358H; 3:78688745-78688745	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.436G>T; p.V146F; 3:78938664-78938664	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2055C>T; p.V685V; 3:78662026-78662026	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4917A>G; p.G1639G; 3:78600137-78600137	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3088C>A; p.L1030M; 3:78636058-78636058	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2918A>G; p.Q973R; 3:78639863-78639863	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3219C>T; p.Y1073Y; 3:78635927-78635927	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3827A>T; p.Q1276L; 3:78627369-78627369	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.112A>T; p.N38Y; 3:79125516-79125516	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2157A>G; p.G719G; 3:78661193-78661193	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.851A>G; p.E284G; 3:78717341-78717341	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.665G>A; p.G222E; 3:78717876-78717876	oesophagus	carcinoma	Substitution - Missense
c.4324A>G; p.S1442G; 3:78614759-78614759	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1281C>T; p.I427I; 3:78685807-78685807	pancreas	carcinoma	Substitution - coding silent
c.3339G>C; p.Q1113H; 3:78635807-78635807	ovary	other; neoplasm	Substitution - Missense
c.2088+2T>C; p.?; 3:78661991-78661991	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2802T>C; p.G934G; 3:78651742-78651742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1948G>T; p.D650Y; 3:78667901-78667901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3911C>T; p.P1304L; 3:78618006-78618006	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4815C>A; p.S1605R; 3:78600239-78600239	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4815C>A; p.S1605R; 3:78600239-78600239	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.3049G>T; p.A1017S; 3:78636097-78636097	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3985G>T; p.E1329*; 3:78617932-78617932	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.780G>T; p.E260D; 3:78717412-78717412	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1990G>T; p.V664L; 3:78662091-78662091	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.130A>C; p.I44L; 3:79125498-79125498	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.130A>C; p.I44L; 3:79125498-79125498	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4011G>A; p.E1337E; 3:78617906-78617906	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3268G>T; p.G1090C; 3:78635878-78635878	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.3268G>T; p.G1090C; 3:78635878-78635878	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.4116C>T; p.N1372N; 3:78617801-78617801	liver	carcinoma	Substitution - coding silent
c.4873A>C; p.R1625R; 3:78600181-78600181	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1422C>T; p.L474L; 3:78670222-78670222	pancreas	carcinoma	Substitution - coding silent
c.4116C>T; p.N1372N; 3:78617801-78617801	liver	carcinoma	Substitution - coding silent
c.4116C>T; p.N1372N; 3:78617801-78617801	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.440G>A; p.C147Y; 3:78938660-78938660	breast	carcinoma	Substitution - Missense
c.391C>T; p.R131C; 3:78938709-78938709	pancreas	carcinoma	Substitution - Missense
c.179G>T; p.R60L; 3:78938921-78938921	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1716C>T; p.V572V; 3:78668217-78668217	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1191A>T; p.Q397H; 3:78685897-78685897	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4157G>A; p.G1386E; 3:78617760-78617760	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2189C>T; p.T730M; 3:78661161-78661161	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.928C>T; p.R310*; 3:78714514-78714514	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2987C>T; p.T996M; 3:78639794-78639794	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3184C>T; p.R1062C; 3:78635962-78635962	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.917G>T; p.R306I; 3:78717275-78717275	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2467C>T; p.R823*; 3:78657245-78657245	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3560C>T; p.P1187L; 3:78631227-78631227	skin	malignant_melanoma	Substitution - Missense
c.4687C>T; p.R1563C; 3:78606790-78606790	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3536G>A; p.G1179D; 3:78631251-78631251	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2258_2259insTT; p.N756fs*28; 3:78661091-78661092	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified	Insertion - Frameshift
c.3708A>C; p.E1236D; 3:78627488-78627488	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1023A>C; p.A341A; 3:78714419-78714419	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.530C>A; p.S177*; 3:78746870-78746870	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1828G>A; p.V610I; 3:78668021-78668021	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3423A>G; p.S1141S; 3:78633993-78633993	skin	malignant_melanoma	Substitution - coding silent
c.4324A>T; p.S1442C; 3:78614759-78614759	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4746_4747GG>TA; p.E1582_D1583>DN; 3:78600307-78600308	oesophagus	carcinoma; adenocarcinoma	Complex - compound substitution
c.4921G>T; p.D1641Y; 3:78600133-78600133	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.992T>C; p.V331A; 3:78714450-78714450	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2868C>T; p.V956V; 3:78646162-78646162	skin	malignant_melanoma	Substitution - coding silent
c.387C>G; p.F129L; 3:78938713-78938713	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3379C>T; p.R1127*; 3:78634037-78634037	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.761_762CC>TT; p.A254V; 3:78717779-78717780	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3379C>T; p.R1127*; 3:78634037-78634037	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3290A>C; p.K1097T; 3:78635856-78635856	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.520C>T; p.Q174*; 3:78746880-78746880	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2867T>C; p.V956A; 3:78646163-78646163	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2867T>C; p.V956A; 3:78646163-78646163	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2295C>G; p.I765M; 3:78661055-78661055	breast	carcinoma	Substitution - Missense
c.3923C>T; p.P1308L; 3:78617994-78617994	skin	malignant_melanoma	Substitution - Missense
c.311G>T; p.G104V; 3:78938789-78938789	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1417G>A; p.V473I; 3:78670227-78670227	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2764C>T; p.R922C; 3:78651780-78651780	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2764C>T; p.R922C; 3:78651780-78651780	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3746C>T; p.S1249F; 3:78627450-78627450	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2029G>A; p.V677I; 3:78662052-78662052	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1827C>T; p.T609T; 3:78668022-78668022	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified	Substitution - coding silent
c.2060C>A; p.S687Y; 3:78662021-78662021	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2516T>A; p.I839N; 3:78657196-78657196	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.694A>T; p.K232*; 3:78717847-78717847	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1671A>G; p.P557P; 3:78668262-78668262	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4463C>T; p.P1488L; 3:78607014-78607014	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2448G>T; p.W816C; 3:78657264-78657264	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1502G>A; p.R501Q; 3:78670142-78670142	pancreas	carcinoma	Substitution - Missense
c.2448G>T; p.W816C; 3:78657264-78657264	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1427G>A; p.C476Y; 3:78670217-78670217	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2447G>C; p.W816S; 3:78657265-78657265	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.53C>T; p.S18F; 3:79589859-79589859	skin	malignant_melanoma	Substitution - Missense
c.4607A>G; p.D1536G; 3:78606870-78606870	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2250G>T; p.K750N; 3:78661100-78661100	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4450C>T; p.P1484S; 3:78607027-78607027	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4490C>T; p.S1497F; 3:78606987-78606987	skin	malignant_melanoma	Substitution - Missense
c.1409G>C; p.G470A; 3:78670235-78670235	breast	carcinoma	Substitution - Missense
c.4235A>T; p.E1412V; 3:78617682-78617682	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4870C>T; p.R1624*; 3:78600184-78600184	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.89-5G>A; p.?; 3:79125544-79125544	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.4870C>T; p.R1624*; 3:78600184-78600184	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3046A>G; p.I1016V; 3:78636100-78636100	liver	carcinoma	Substitution - Missense
c.120C>T; p.H40H; 3:79125508-79125508	oesophagus	carcinoma	Substitution - coding silent
c.4009G>T; p.E1337*; 3:78617908-78617908	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3046A>G; p.I1016V; 3:78636100-78636100	liver	carcinoma	Substitution - Missense
c.3649C>T; p.P1217S; 3:78627547-78627547	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.223T>C; p.S75P; 3:78938877-78938877	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.81T>A; p.L27L; 3:79589831-79589831	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2122A>G; p.K708E; 3:78661228-78661228	liver	carcinoma	Substitution - Missense
c.2122A>G; p.K708E; 3:78661228-78661228	liver	carcinoma	Substitution - Missense
c.4302G>A; p.A1434A; 3:78614781-78614781	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4302G>A; p.A1434A; 3:78614781-78614781	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1291T>G; p.L431V; 3:78685797-78685797	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.281G>A; p.R94H; 3:78938819-78938819	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2658C>T; p.L886L; 3:78651886-78651886	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4855C>T; p.Q1619*; 3:78600199-78600199	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4855C>T; p.Q1619*; 3:78600199-78600199	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4855C>T; p.Q1619*; 3:78600199-78600199	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4855C>T; p.Q1619*; 3:78600199-78600199	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2209G>T; p.V737L; 3:78661141-78661141	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4101G>A; p.T1367T; 3:78617816-78617816	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4101G>A; p.T1367T; 3:78617816-78617816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation