Entrez Gene

Basic Information
Gene ID	6091
Name	ROBO1
Synonymous	roundabout, axon guidance receptor, homolog 1 (Drosophila);ROBO1;roundabout, axon guidance receptor, homolog 1 (Drosophila)
Definition	deleted in U twenty twenty\|roundabout homolog 1
Position	3p12
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.12.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
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

Mutation summary in protein domains

Top

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]