Entrez Gene

Basic Information
Gene ID	55294
Name	FBXW7
Synonymous	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase;FBXW7;F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
Definition	F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)\|F-box protein FBW7\|F-box protein FBX30\|F-box protein SEL-10\|F-box/WD repeat-containing protein 7\|archipelago\|homolog of C elegans sel-10
Position	4q31.3
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 0.18.

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.1435C>G; p.R479G; 4:152326215-152326215	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1508C>T; p.A503V; 4:152326142-152326142	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1435C>G; p.R479G; 4:152326215-152326215	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1817G>T; p.W606L; 4:152324222-152324222	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1435C>G; p.R479G; 4:152326215-152326215	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1777_1778insT; p.L594fs*11; 4:152324261-152324262	skin; abdomen	malignant_melanoma	Insertion - Frameshift
c.1435C>G; p.R479G; 4:152326215-152326215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1435C>G; p.R479G; 4:152326215-152326215	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1435C>G; p.R479G; 4:152326215-152326215	endometrium	carcinoma; adenocarcinoma	Substitution - Missense
c.667C>T; p.R223C; 4:152346989-152346989	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2014G>A; p.V672M; 4:152322991-152322991	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1394G>T; p.R465L; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.127C>A; p.Q43K; 4:152411677-152411677	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1394G>T; p.R465L; 4:152328232-152328232	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1394G>T; p.R465L; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>T; p.R465L; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1310G>T; p.G437V; 4:152328316-152328316	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1072C>T; p.Q358*; 4:152330782-152330782	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1072C>T; p.Q358*; 4:152330782-152330782	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2021G>T; p.R674L; 4:152322984-152322984	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.835G>T; p.D279Y; 4:152337828-152337828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1451G>T; p.R484M; 4:152326199-152326199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.257C>T; p.S86L; 4:152411547-152411547	breast	carcinoma	Substitution - Missense
c.536G>A; p.R179H; 4:152350090-152350090	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2067G>A; p.R689R; 4:152322938-152322938	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1848A>T; p.T616T; 4:152324191-152324191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2054C>T; p.A685V; 4:152322951-152322951	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1579G>A; p.D527N; 4:152326071-152326071	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2054C>T; p.A685V; 4:152322951-152322951	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.535C>T; p.R179C; 4:152350091-152350091	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1112A>C; p.K371T; 4:152330742-152330742	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.1855+2delT; p.?; 4:152324182-152324182	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.1427G>T; p.S476I; 4:152326223-152326223	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1329_1330ins13; p.K444fs*32; 4:152328296-152328297	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - Frameshift
c.490A>T; p.K164*; 4:152411314-152411314	endometrium	carcinoma	Substitution - Nonsense
c.834A>G; p.R278R; 4:152337829-152337829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1642C>T; p.Q548*; 4:152326008-152326008	ovary	low_malignant_potential_(borderline)_tumour; serous	Substitution - Nonsense
c.834A>G; p.R278R; 4:152337829-152337829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.726+1G>A; p.?; 4:152346929-152346929	genital_tract	germ_cell_tumour; teratoma	Unknown
c.1154C>A; p.T385K; 4:152329754-152329754	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1154C>A; p.T385K; 4:152329754-152329754	urinary_tract; bladder	carcinoma	Substitution - Missense
c.726+1G>A; p.?; 4:152346929-152346929	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.726+1G>A; p.?; 4:152346929-152346929	large_intestine	carcinoma; adenocarcinoma	Unknown
c.1154C>A; p.T385K; 4:152329754-152329754	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1636T>C; p.S546P; 4:152326014-152326014	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1452G>T; p.R484S; 4:152326198-152326198	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.963G>A; p.W321*; 4:152332618-152332618	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.958C>A; p.L320I; 4:152332623-152332623	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.115G>T; p.E39*; 4:152411689-152411689	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.289G>T; p.E97*; 4:152411515-152411515	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1309G>T; p.G437*; 4:152328317-152328317	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1275G>T; p.W425C; 4:152328351-152328351	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1385C>T; p.S462F; 4:152328241-152328241	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1959G>C; p.T653T; 4:152323046-152323046	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.778T>C; p.C260R; 4:152337885-152337885	pancreas	carcinoma	Substitution - Missense
c.1385C>T; p.S462F; 4:152328241-152328241	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.778T>C; p.C260R; 4:152337885-152337885	pancreas	carcinoma	Substitution - Missense
c.1385C>T; p.S462F; 4:152328241-152328241	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1595C>A; p.T532N; 4:152326055-152326055	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1537A>G; p.R513G; 4:152326113-152326113	breast	carcinoma	Substitution - Missense
c.1327C>T; p.L443F; 4:152328299-152328299	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1393_1394CG>TA; p.R465Y; 4:152328232-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1735G>T; p.G579W; 4:152324304-152324304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1338G>A; p.W446*; 4:152328288-152328288	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1735G>T; p.G579W; 4:152324304-152324304	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1338G>A; p.W446*; 4:152328288-152328288	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1594A>G; p.T532A; 4:152326056-152326056	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1393_1394CG>TA; p.R465Y; 4:152328232-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1594A>G; p.T532A; 4:152326056-152326056	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1594A>G; p.T532A; 4:152326056-152326056	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1338G>A; p.W446*; 4:152328288-152328288	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1123G>A; p.V375M; 4:152329785-152329785	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1099C>T; p.R367*; 4:152330755-152330755	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.832C>T; p.R278*; 4:152337831-152337831	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.832C>T; p.R278*; 4:152337831-152337831	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	pancreas	carcinoma	Substitution - Nonsense
c.361_363GAG>TAT; p.E121Y; 4:152411441-152411443	endometrium	carcinoma; adenocarcinoma	Substitution - Missense
c.1099C>T; p.R367*; 4:152330755-152330755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.832C>T; p.R278*; 4:152337831-152337831	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.832C>T; p.R278*; 4:152337831-152337831	large_intestine; colon	adenoma; villous	Substitution - Nonsense
c.832C>T; p.R278*; 4:152337831-152337831	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.832C>T; p.R278*; 4:152337831-152337831	large_intestine	adenoma	Substitution - Nonsense
c.832C>T; p.R278*; 4:152337831-152337831	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.832C>T; p.R278*; 4:152337831-152337831	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.832C>T; p.R278*; 4:152337831-152337831	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.832C>T; p.R278*; 4:152337831-152337831	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.832C>T; p.R278*; 4:152337831-152337831	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	endometrium	carcinoma; adenocarcinoma	Substitution - Nonsense
c.832C>T; p.R278*; 4:152337831-152337831	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.832C>T; p.R278*; 4:152337831-152337831	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2054C>A; p.A685E; 4:152322951-152322951	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.832C>T; p.R278*; 4:152337831-152337831	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.832C>T; p.R278*; 4:152337831-152337831	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.1099C>T; p.R367*; 4:152330755-152330755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1739A>G; p.H580R; 4:152324300-152324300	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1739A>G; p.H580R; 4:152324300-152324300	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.739C>A; p.P247T; 4:152337924-152337924	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.492A>G; p.K164K; 4:152411312-152411312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1635T>G; p.Y545*; 4:152326015-152326015	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2065C>T; p.R689W; 4:152322940-152322940	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.33A>C; p.K11N; 4:152411771-152411771	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.337G>T; p.E113*; 4:152411467-152411467	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1444A>C; p.T482P; 4:152326206-152326206	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1321C>T; p.R441W; 4:152328305-152328305	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1321C>T; p.R441W; 4:152328305-152328305	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2065C>T; p.R689W; 4:152322940-152322940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1101A>G; p.R367R; 4:152330753-152330753	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1101A>G; p.R367R; 4:152330753-152330753	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1101A>G; p.R367R; 4:152330753-152330753	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1135C>T; p.H379Y; 4:152329773-152329773	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1322G>C; p.R441P; 4:152328304-152328304	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1322G>C; p.R441P; 4:152328304-152328304	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2001delG; p.S668fs*39; 4:152323004-152323004	stomach	adenocarcinoma	Deletion - Frameshift
c.2001delG; p.S668fs*39; 4:152323004-152323004	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1738C>G; p.H580D; 4:152324301-152324301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1336T>C; p.W446R; 4:152328290-152328290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2001delG; p.S668fs*39; 4:152323004-152323004	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2001delG; p.S668fs*39; 4:152323004-152323004	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.840C>A; p.F280L; 4:152337823-152337823	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2001delG; p.S668fs*39; 4:152323004-152323004	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1951T>C; p.L651L; 4:152323054-152323054	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2001delG; p.S668fs*39; 4:152323004-152323004	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1258C>T; p.H420Y; 4:152328368-152328368	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; adult_T_cell_lymphoma-leukaemia	Substitution - Missense
c.1635T>C; p.Y545Y; 4:152326015-152326015	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1633T>C; p.Y545H; 4:152326017-152326017	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1635T>C; p.Y545Y; 4:152326015-152326015	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1877C>A; p.A626D; 4:152323128-152323128	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1859C>G; p.P620R; 4:152323146-152323146	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.388_389insCTGAT; p.D130fs*41; 4:152411411-152411412	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1513C>G; p.R505G; 4:152326137-152326137	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1513C>G; p.R505G; 4:152326137-152326137	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1015A>T; p.R339*; 4:152330839-152330839	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1267G>A; p.G423R; 4:152328359-152328359	skin	malignant_melanoma	Substitution - Missense
c.1267G>A; p.G423R; 4:152328359-152328359	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1513C>G; p.R505G; 4:152326137-152326137	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1556A>G; p.Y519C; 4:152326094-152326094	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1513C>G; p.R505G; 4:152326137-152326137	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1267G>T; p.G423*; 4:152328359-152328359	skin	malignant_melanoma	Substitution - Nonsense
c.1513C>G; p.R505G; 4:152326137-152326137	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1513C>G; p.R505G; 4:152326137-152326137	oesophagus	carcinoma	Substitution - Missense
c.1556A>G; p.Y519C; 4:152326094-152326094	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>G; p.R505G; 4:152326137-152326137	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1513C>G; p.R505G; 4:152326137-152326137	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1267G>A; p.G423R; 4:152328359-152328359	skin	malignant_melanoma	Substitution - Missense
c.1513C>G; p.R505G; 4:152326137-152326137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.902T>C; p.L301P; 4:152332679-152332679	breast	carcinoma	Substitution - Missense
c.936A>C; p.R312S; 4:152332645-152332645	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>G; p.R505G; 4:152326137-152326137	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1513C>G; p.R505G; 4:152326137-152326137	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1513C>G; p.R505G; 4:152326137-152326137	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1438G>T; p.D480Y; 4:152326212-152326212	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.715A>C; p.K239Q; 4:152346941-152346941	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1679A>G; p.D560G; 4:152324360-152324360	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine; rectum	adenoma; tubular	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.540delT; p.S182fs*57; 4:152350086-152350086	prostate	carcinoma	Deletion - Frameshift
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1335_1336GT>TG; p.W446G; 4:152328290-152328291	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	skin; neck	malignant_melanoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	pancreas	carcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	skin; abdomen	malignant_melanoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	skin; trunk	malignant_melanoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.33A>G; p.K11K; 4:152411771-152411771	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1513C>T; p.R505C; 4:152326137-152326137	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.852C>T; p.L284L; 4:152337811-152337811	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine; rectum	adenoma; tubulovillous	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	skin; trunk	malignant_melanoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1513C>T; p.R505C; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.500A>C; p.K167T; 4:152411304-152411304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.432G>A; p.T144T; 4:152411372-152411372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.432G>A; p.T144T; 4:152411372-152411372	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.432G>A; p.T144T; 4:152411372-152411372	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.945T>C; p.A315A; 4:152332636-152332636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.432G>A; p.T144T; 4:152411372-152411372	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1333_1334insA; p.V445fs*27; 4:152328292-152328293	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1996delG; p.S668fs*39; 4:152323009-152323009	stomach	carcinoma; adenocarcinoma	Deletion - Frameshift
c.985+1delG; p.?; 4:152332595-152332595	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1786T>C; p.S596P; 4:152324253-152324253	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1190G>A; p.G397D; 4:152329718-152329718	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1435C>T; p.R479*; 4:152326215-152326215	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1435C>T; p.R479*; 4:152326215-152326215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1435C>T; p.R479*; 4:152326215-152326215	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.1435C>T; p.R479*; 4:152326215-152326215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1435C>T; p.R479*; 4:152326215-152326215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1435C>T; p.R479*; 4:152326215-152326215	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.529G>A; p.E177K; 4:152350097-152350097	breast	carcinoma	Substitution - Missense
c.1435C>T; p.R479*; 4:152326215-152326215	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.868C>G; p.L290V; 4:152332713-152332713	ovary	other; neoplasm	Substitution - Missense
c.1876G>A; p.A626T; 4:152323129-152323129	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1111A>T; p.K371*; 4:152330743-152330743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1311A>T; p.G437G; 4:152328315-152328315	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1514G>C; p.R505P; 4:152326136-152326136	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1311A>T; p.G437G; 4:152328315-152328315	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2001_2002insG; p.S668fs*26; 4:152323003-152323004	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.907C>T; p.Q303*; 4:152332674-152332674	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1378C>T; p.H460Y; 4:152328248-152328248	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>T; p.R479L; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1436G>T; p.R479L; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1436G>T; p.R479L; 4:152326214-152326214	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1436G>T; p.R479L; 4:152326214-152326214	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1100G>T; p.R367L; 4:152330754-152330754	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>T; p.R479L; 4:152326214-152326214	breast	carcinoma	Substitution - Missense
c.1736_1741delGGCACC; p.G579_Q581>E; 4:152324298-152324303	large_intestine; colon	carcinoma; adenocarcinoma	Complex - deletion inframe
c.1436G>T; p.R479L; 4:152326214-152326214	small_intestine; duodenum	carcinoma; adenocarcinoma	Substitution - Missense
c.32A>G; p.K11R; 4:152411772-152411772	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1313C>A; p.S438Y; 4:152328313-152328313	pancreas	carcinoma	Substitution - Missense
c.1540G>T; p.V514F; 4:152326110-152326110	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1514G>T; p.R505L; 4:152326136-152326136	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1514G>T; p.R505L; 4:152326136-152326136	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1313C>A; p.S438Y; 4:152328313-152328313	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1540G>T; p.V514F; 4:152326110-152326110	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1136A>G; p.H379R; 4:152329772-152329772	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1514G>T; p.R505L; 4:152326136-152326136	ovary	carcinoma; adenocarcinoma	Substitution - Missense
c.1514G>T; p.R505L; 4:152326136-152326136	ovary	carcinoma	Substitution - Missense
c.1514G>T; p.R505L; 4:152326136-152326136	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1514G>T; p.R505L; 4:152326136-152326136	ovary	carcinoma	Substitution - Missense
c.1540G>T; p.V514F; 4:152326110-152326110	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1514G>T; p.R505L; 4:152326136-152326136	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1195G>C; p.D399H; 4:152329713-152329713	breast	carcinoma	Substitution - Missense
c.1514G>T; p.R505L; 4:152326136-152326136	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.529G>C; p.E177Q; 4:152350097-152350097	breast	carcinoma	Substitution - Missense
c.1628G>A; p.R543K; 4:152326022-152326022	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1409A>C; p.H470P; 4:152328217-152328217	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.339G>T; p.E113D; 4:152411465-152411465	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.930C>T; p.Y310Y; 4:152332651-152332651	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.45_46insCCT; p.T15_G16insP; 4:152411758-152411759	prostate	carcinoma; adenocarcinoma	Insertion - In frame
c.277G>T; p.G93*; 4:152411527-152411527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.702C>A; p.L234L; 4:152346954-152346954	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1754G>C; p.S585T; 4:152324285-152324285	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.631G>A; p.D211N; 4:152347025-152347025	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1415A>C; p.K472T; 4:152328211-152328211	liver	carcinoma	Substitution - Missense
c.1963G>T; p.E655*; 4:152323042-152323042	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1415A>C; p.K472T; 4:152328211-152328211	liver	carcinoma	Substitution - Missense
c.643G>A; p.A215T; 4:152347013-152347013	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1634A>G; p.Y545C; 4:152326016-152326016	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1634A>G; p.Y545C; 4:152326016-152326016	breast	carcinoma	Substitution - Missense
c.466C>G; p.Q156E; 4:152411338-152411338	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1499A>G; p.H500R; 4:152326151-152326151	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1634A>G; p.Y545C; 4:152326016-152326016	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1847C>T; p.T616I; 4:152324192-152324192	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1847C>T; p.T616I; 4:152324192-152324192	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1634A>G; p.Y545C; 4:152326016-152326016	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.844T>A; p.S282T; 4:152337819-152337819	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.43_44insCTC; p.T15_G16insP; 4:152411760-152411761	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - In frame
c.43_44insCTC; p.T15_G16insP; 4:152411760-152411761	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - In frame
c.43_44insCTC; p.T15_G16insP; 4:152411760-152411761	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - In frame
c.1802C>T; p.S601F; 4:152324237-152324237	skin	malignant_melanoma	Substitution - Missense
c.43_44insCTC; p.T15_G16insP; 4:152411760-152411761	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - In frame
c.1802C>T; p.S601F; 4:152324237-152324237	skin; trunk	malignant_melanoma	Substitution - Missense
c.43_44insCTC; p.T15_G16insP; 4:152411760-152411761	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - In frame
c.1178G>A; p.R393Q; 4:152329730-152329730	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2039_2040delCA; p.T680fs*13; 4:152322965-152322966	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.1322G>T; p.R441L; 4:152328304-152328304	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1322G>T; p.R441L; 4:152328304-152328304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1958delC; p.T653fs*8; 4:152323047-152323047	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm	Deletion - Frameshift
c.1178G>A; p.R393Q; 4:152329730-152329730	pancreas	carcinoma	Substitution - Missense
c.1322G>T; p.R441L; 4:152328304-152328304	breast	carcinoma	Substitution - Missense
c.41G>A; p.R14Q; 4:152411763-152411763	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.41G>A; p.R14Q; 4:152411763-152411763	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.41G>A; p.R14Q; 4:152411763-152411763	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2021G>A; p.R674Q; 4:152322984-152322984	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1347_1348delGA; p.E449fs*22; 4:152328278-152328279	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.41G>A; p.R14Q; 4:152411763-152411763	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.41G>A; p.R14Q; 4:152411763-152411763	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.860A>T; p.E287V; 4:152337803-152337803	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.860A>T; p.E287V; 4:152337803-152337803	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1451G>C; p.R484T; 4:152326199-152326199	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1793A>G; p.N598S; 4:152324246-152324246	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1627A>G; p.R543G; 4:152326023-152326023	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1780C>T; p.L594F; 4:152324259-152324259	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1269A>G; p.G423G; 4:152328357-152328357	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1229C>T; p.T410I; 4:152329679-152329679	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>A; p.L152L; 4:152411348-152411348	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1153A>C; p.T385P; 4:152329755-152329755	oesophagus	carcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine	adenoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.721T>C; p.F241L; 4:152346935-152346935	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	ovary	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	breast	carcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	small_intestine; duodenum	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1275G>A; p.W425*; 4:152328351-152328351	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.1393C>T; p.R465C; 4:152328233-152328233	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.721T>C; p.F241L; 4:152346935-152346935	skin	malignant_melanoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	small_intestine; jejunum	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	breast	carcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1393C>T; p.R465C; 4:152328233-152328233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2020C>T; p.R674W; 4:152322985-152322985	central_nervous_system; brain	glioma	Substitution - Missense
c.1252G>A; p.V418M; 4:152328374-152328374	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1237-2A>G; p.?; 4:152328391-152328391	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.2079A>G; p.E693E; 4:152322926-152322926	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2079A>G; p.E693E; 4:152322926-152322926	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2079A>G; p.E693E; 4:152322926-152322926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1202_1204delACA; p.N401del; 4:152329704-152329706	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - In frame
c.40C>T; p.R14*; 4:152411764-152411764	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2079A>G; p.E693E; 4:152322926-152322926	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1581T>C; p.D527D; 4:152326069-152326069	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.40C>T; p.R14*; 4:152411764-152411764	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1202_1204delACA; p.N401del; 4:152329704-152329706	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - In frame
c.1558G>T; p.D520Y; 4:152326092-152326092	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1379A>G; p.H460R; 4:152328247-152328247	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1439A>G; p.D480G; 4:152326211-152326211	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1439A>G; p.D480G; 4:152326211-152326211	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1310G>A; p.G437E; 4:152328316-152328316	oesophagus	carcinoma	Substitution - Missense
c.1379A>G; p.H460R; 4:152328247-152328247	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1379A>G; p.H460R; 4:152328247-152328247	breast	carcinoma	Substitution - Missense
c.1379A>G; p.H460R; 4:152328247-152328247	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1379A>G; p.H460R; 4:152328247-152328247	breast	carcinoma	Substitution - Missense
c.1395T>C; p.R465R; 4:152328231-152328231	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1395T>C; p.R465R; 4:152328231-152328231	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1395T>C; p.R465R; 4:152328231-152328231	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1395T>C; p.R465R; 4:152328231-152328231	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1395T>C; p.R465R; 4:152328231-152328231	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1102G>C; p.G368R; 4:152330752-152330752	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1395T>C; p.R465R; 4:152328231-152328231	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1205_1206insT; p.L403fs*34; 4:152329702-152329703	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1202A>G; p.N401S; 4:152329706-152329706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.820_824delCCCCA; p.P274fs*11; 4:152337839-152337843	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1817G>A; p.W606*; 4:152324222-152324222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1580A>G; p.D527G; 4:152326070-152326070	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.873T>A; p.Y291*; 4:152332708-152332708	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.873T>A; p.Y291*; 4:152332708-152332708	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1580A>G; p.D527G; 4:152326070-152326070	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1972C>T; p.R658*; 4:152323033-152323033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1436G>A; p.R479Q; 4:152326214-152326214	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1972C>T; p.R658*; 4:152323033-152323033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1436G>A; p.R479Q; 4:152326214-152326214	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	breast	carcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	large_intestine	adenoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	kidney	Wilms_tumour	Substitution - Missense
c.1972C>T; p.R658*; 4:152323033-152323033	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1436G>A; p.R479Q; 4:152326214-152326214	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	skin	malignant_melanoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1972C>T; p.R658*; 4:152323033-152323033	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1436G>A; p.R479Q; 4:152326214-152326214	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1972C>T; p.R658*; 4:152323033-152323033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1436G>A; p.R479Q; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1972C>T; p.R658*; 4:152323033-152323033	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1436G>A; p.R479Q; 4:152326214-152326214	pancreas	carcinoma	Substitution - Missense
c.1972C>T; p.R658*; 4:152323033-152323033	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1436G>A; p.R479Q; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1972C>T; p.R658*; 4:152323033-152323033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1732A>C; p.T578P; 4:152324307-152324307	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1972C>T; p.R658*; 4:152323033-152323033	skin	malignant_melanoma	Substitution - Nonsense
c.1436G>A; p.R479Q; 4:152326214-152326214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1972C>T; p.R658*; 4:152323033-152323033	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1436G>A; p.R479Q; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1972C>T; p.R658*; 4:152323033-152323033	endometrium	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1972C>T; p.R658*; 4:152323033-152323033	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1436G>A; p.R479Q; 4:152326214-152326214	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1436G>A; p.R479Q; 4:152326214-152326214	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.303T>A; p.D101E; 4:152411501-152411501	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.893C>G; p.P298R; 4:152332688-152332688	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.294A>G; p.Q98Q; 4:152411510-152411510	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.744G>T; p.E248D; 4:152337919-152337919	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1457G>A; p.W486*; 4:152326193-152326193	skin	malignant_melanoma	Substitution - Nonsense
c.294A>G; p.Q98Q; 4:152411510-152411510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1457G>A; p.W486*; 4:152326193-152326193	large_intestine	adenoma	Substitution - Nonsense
c.1457G>A; p.W486*; 4:152326193-152326193	skin	malignant_melanoma	Substitution - Nonsense
c.1457G>A; p.W486*; 4:152326193-152326193	skin	malignant_melanoma	Substitution - Nonsense
c.1457G>A; p.W486*; 4:152326193-152326193	skin	malignant_melanoma	Substitution - Nonsense
c.294A>G; p.Q98Q; 4:152411510-152411510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.744G>T; p.E248D; 4:152337919-152337919	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1685C>T; p.S562L; 4:152324354-152324354	skin; trunk	malignant_melanoma	Substitution - Missense
c.1457G>A; p.W486*; 4:152326193-152326193	skin	malignant_melanoma	Substitution - Nonsense
c.403G>T; p.D135Y; 4:152411401-152411401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.292C>T; p.Q98*; 4:152411512-152411512	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.979delG; p.E327fs*15; 4:152332602-152332602	skin	malignant_melanoma	Deletion - Frameshift
c.1514G>A; p.R505H; 4:152326136-152326136	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1514G>A; p.R505H; 4:152326136-152326136	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1514G>A; p.R505H; 4:152326136-152326136	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1690C>G; p.R564G; 4:152324349-152324349	skin	malignant_melanoma	Substitution - Missense
c.415C>A; p.H139N; 4:152411389-152411389	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1514G>A; p.R505H; 4:152326136-152326136	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1746G>A; p.S582S; 4:152324293-152324293	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1457G>T; p.W486L; 4:152326193-152326193	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1667G>A; p.S556N; 4:152324372-152324372	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1746G>A; p.S582S; 4:152324293-152324293	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.349_351delGAG; p.E117del; 4:152411453-152411455	kidney	Wilms_tumour	Deletion - In frame
c.349_351delGAG; p.E117del; 4:152411453-152411455	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - In frame
c.349_351delGAG; p.E117del; 4:152411453-152411455	bone	osteosarcoma	Deletion - In frame
c.467A>G; p.Q156R; 4:152411337-152411337	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
p.?; 4:152329671-152329671	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Unknown
c.1210A>G; p.K404E; 4:152329698-152329698	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1548T>G; p.S516R; 4:152326102-152326102	skin	malignant_melanoma	Substitution - Missense
c.1260T>C; p.H420H; 4:152328366-152328366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1105G>T; p.E369*; 4:152330749-152330749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1105G>T; p.E369*; 4:152330749-152330749	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1557T>A; p.Y519*; 4:152326093-152326093	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1105G>T; p.E369*; 4:152330749-152330749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1105G>T; p.E369*; 4:152330749-152330749	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1514G>H; p.R505?; 4:152326136-152326136	breast	carcinoma	Substitution - Missense
c.1514G>H; p.R505?; 4:152326136-152326136	breast	carcinoma	Substitution - Missense
c.791A>G; p.Q264R; 4:152337872-152337872	breast	carcinoma	Substitution - Missense
c.1514G>H; p.R505?; 4:152326136-152326136	breast	carcinoma	Substitution - Missense
c.791A>G; p.Q264R; 4:152337872-152337872	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1514G>H; p.R505?; 4:152326136-152326136	breast	carcinoma	Substitution - Missense
c.1514G>H; p.R505?; 4:152326136-152326136	breast	carcinoma	Substitution - Missense
c.1514G>H; p.R505?; 4:152326136-152326136	breast	carcinoma	Substitution - Missense
c.1590T>G; p.T530T; 4:152326060-152326060	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1514G>H; p.R505?; 4:152326136-152326136	breast	carcinoma	Substitution - Missense
c.1514G>H; p.R505?; 4:152326136-152326136	breast	carcinoma	Substitution - Missense
c.791A>G; p.Q264R; 4:152337872-152337872	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1590T>G; p.T530T; 4:152326060-152326060	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1514G>H; p.R505?; 4:152326136-152326136	breast	carcinoma	Substitution - Missense
c.1514G>H; p.R505?; 4:152326136-152326136	breast	carcinoma	Substitution - Missense
c.1514G>H; p.R505?; 4:152326136-152326136	breast	carcinoma	Substitution - Missense
c.1514G>H; p.R505?; 4:152326136-152326136	breast	carcinoma	Substitution - Missense
c.1514G>H; p.R505?; 4:152326136-152326136	breast	carcinoma	Substitution - Missense
c.1514G>H; p.R505?; 4:152326136-152326136	breast	carcinoma	Substitution - Missense
c.1741C>T; p.Q581*; 4:152324298-152324298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1511T>C; p.V504A; 4:152326139-152326139	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1259A>G; p.H420R; 4:152328367-152328367	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1511T>C; p.V504A; 4:152326139-152326139	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1259A>G; p.H420R; 4:152328367-152328367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.479C>T; p.P160L; 4:152411325-152411325	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1259A>G; p.H420R; 4:152328367-152328367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.39A>G; p.R13R; 4:152411765-152411765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.39A>G; p.R13R; 4:152411765-152411765	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.39A>G; p.R13R; 4:152411765-152411765	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.39A>G; p.R13R; 4:152411765-152411765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1788T>A; p.S596S; 4:152324251-152324251	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.886C>T; p.L296L; 4:152332695-152332695	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.575A>C; p.E192A; 4:152350051-152350051	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.575A>C; p.E192A; 4:152350051-152350051	large_intestine; colon	NS	Substitution - Missense
c.575A>C; p.E192A; 4:152350051-152350051	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.575A>C; p.E192A; 4:152350051-152350051	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.668G>T; p.R223L; 4:152346988-152346988	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.575A>C; p.E192A; 4:152350051-152350051	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.1947G>A; p.W649*; 4:152323058-152323058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1947G>A; p.W649*; 4:152323058-152323058	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.154C>T; p.H52Y; 4:152411650-152411650	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1880T>C; p.V627A; 4:152323125-152323125	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1158C>G; p.C386W; 4:152329750-152329750	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1953G>A; p.L651L; 4:152323052-152323052	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1947G>A; p.W649*; 4:152323058-152323058	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1526A>T; p.Y509F; 4:152326124-152326124	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1368C>A; p.T456T; 4:152328258-152328258	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1398_1399insT; p.M467fs*5; 4:152328227-152328228	ovary	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1876G>C; p.A626P; 4:152323129-152323129	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.302A>T; p.D101V; 4:152411502-152411502	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.?; p.?; 4:152328207-152328207	large_intestine	carcinoma; adenocarcinoma	Unknown
c.?; p.?; 4:152328207-152328207	large_intestine	carcinoma; adenocarcinoma	Unknown
c.660A>G; p.Q220Q; 4:152346996-152346996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.586A>T; p.T196S; 4:152347070-152347070	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.925delC; p.R309fs*33; 4:152332656-152332656	breast	carcinoma	Deletion - Frameshift
c.1103G>A; p.G368E; 4:152330751-152330751	skin	malignant_melanoma	Substitution - Missense
c.1118C>T; p.P373L; 4:152330736-152330736	skin	malignant_melanoma	Substitution - Missense
c.103C>T; p.R35C; 4:152411701-152411701	kidney	Wilms_tumour	Substitution - Missense
c.770T>A; p.I257N; 4:152337893-152337893	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.660A>G; p.Q220Q; 4:152346996-152346996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1011G>A; p.K337K; 4:152330843-152330843	breast	carcinoma	Substitution - coding silent
c.1558G>A; p.D520N; 4:152326092-152326092	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1390G>A; p.V464M; 4:152328236-152328236	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1558G>A; p.D520N; 4:152326092-152326092	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1390G>A; p.V464M; 4:152328236-152328236	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1558G>A; p.D520N; 4:152326092-152326092	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1558G>A; p.D520N; 4:152326092-152326092	large_intestine; colon	adenoma	Substitution - Missense
c.328G>T; p.E110*; 4:152411476-152411476	skin	malignant_melanoma	Substitution - Nonsense
c.1318G>T; p.D440Y; 4:152328308-152328308	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2077G>A; p.E693K; 4:152322928-152322928	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2077G>A; p.E693K; 4:152322928-152322928	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.328G>T; p.E110*; 4:152411476-152411476	skin	malignant_melanoma	Substitution - Nonsense
c.328G>T; p.E110*; 4:152411476-152411476	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1730T>C; p.L577S; 4:152324309-152324309	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2077G>A; p.E693K; 4:152322928-152322928	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1057delA; p.S353fs*24; 4:152330797-152330797	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.242A>G; p.N81S; 4:152411562-152411562	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1514G>A; p.R505H; 4:152326136-152326136	large_intestine; colon	adenoma	Substitution - Missense
c.1144C>A; p.H382N; 4:152329764-152329764	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1381A>G; p.T461A; 4:152328245-152328245	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1391T>A; p.V464E; 4:152328235-152328235	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1268G>T; p.G423V; 4:152328358-152328358	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1268G>T; p.G423V; 4:152328358-152328358	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1268G>T; p.G423V; 4:152328358-152328358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1268G>T; p.G423V; 4:152328358-152328358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1268G>T; p.G423V; 4:152328358-152328358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1268G>T; p.G423V; 4:152328358-152328358	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1268G>T; p.G423V; 4:152328358-152328358	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1268G>T; p.G423V; 4:152328358-152328358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1268G>T; p.G423V; 4:152328358-152328358	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1625A>T; p.N542I; 4:152326025-152326025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1268G>T; p.G423V; 4:152328358-152328358	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1268G>T; p.G423V; 4:152328358-152328358	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1268G>T; p.G423V; 4:152328358-152328358	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.545C>T; p.S182F; 4:152350081-152350081	skin	malignant_melanoma	Substitution - Missense
c.1437A>G; p.R479R; 4:152326213-152326213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.584+2T>C; p.?; 4:152350040-152350040	stomach	carcinoma; adenocarcinoma	Unknown
c.1484A>C; p.H495P; 4:152326166-152326166	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.671G>A; p.R224Q; 4:152346985-152346985	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.671G>A; p.R224Q; 4:152346985-152346985	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1677T>C; p.L559L; 4:152324362-152324362	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.664C>T; p.R222*; 4:152346992-152346992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1259_1260insGTGGGACA; p.H420fs*13; 4:152328366-152328367	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.829C>T; p.Q277*; 4:152337834-152337834	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.658C>T; p.Q220*; 4:152346998-152346998	large_intestine	adenoma	Substitution - Nonsense
c.892C>T; p.P298S; 4:152332689-152332689	large_intestine; rectum	adenoma	Substitution - Missense
c.1442C>T; p.A481V; 4:152326208-152326208	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2078A>G; p.E693G; 4:152322927-152322927	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2113G>A; p.D705N; 4:152322892-152322892	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1619A>G; p.H540R; 4:152326031-152326031	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2078A>G; p.E693G; 4:152322927-152322927	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.892C>T; p.P298S; 4:152332689-152332689	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1301_1302ins22; p.I435fs*9; 4:152328324-152328325	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.1429G>A; p.G477S; 4:152326221-152326221	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1429G>A; p.G477S; 4:152326221-152326221	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1212delA; p.V405fs*10; 4:152329696-152329696	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1787C>T; p.S596F; 4:152324252-152324252	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2013_2014insGGGGAGTT; p.V672fs*38; 4:152322991-152322992	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.1429G>A; p.G477S; 4:152326221-152326221	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1277C>T; p.S426L; 4:152328349-152328349	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1412A>G; p.E471G; 4:152328214-152328214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.854C>A; p.P285H; 4:152337809-152337809	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1412A>G; p.E471G; 4:152328214-152328214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1632C>G; p.V544V; 4:152326018-152326018	skin	malignant_melanoma	Substitution - coding silent
c.1973G>A; p.R658Q; 4:152323032-152323032	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1973G>A; p.R658Q; 4:152323032-152323032	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.338_342delAGGAG; p.E113fs*9; 4:152411462-152411466	soft_tissue; fat	liposarcoma; dedifferentiated	Deletion - Frameshift
c.244A>T; p.N82Y; 4:152411560-152411560	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.909A>G; p.Q303Q; 4:152332672-152332672	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1498C>A; p.H500N; 4:152326152-152326152	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.909A>G; p.Q303Q; 4:152332672-152332672	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.909A>G; p.Q303Q; 4:152332672-152332672	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.304G>A; p.E102K; 4:152411500-152411500	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2016G>A; p.V672V; 4:152322989-152322989	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1790G>A; p.G597E; 4:152324249-152324249	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1576T>C; p.W526R; 4:152326074-152326074	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1744T>C; p.S582P; 4:152324295-152324295	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1576T>C; p.W526R; 4:152326074-152326074	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.862-1G>A; p.?; 4:152332720-152332720	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1812A>C; p.K604N; 4:152324227-152324227	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.566_567delAA; p.K189fs*66; 4:152350059-152350060	central_nervous_system; temporal_lobe	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.862-1G>A; p.?; 4:152332720-152332720	ovary	carcinoma	Unknown
c.1095G>A; p.W365*; 4:152330759-152330759	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1631T>A; p.V544D; 4:152326019-152326019	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1550G>A; p.G517E; 4:152326100-152326100	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.880T>C; p.S294P; 4:152332701-152332701	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.572C>G; p.S191*; 4:152350054-152350054	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.572C>G; p.S191*; 4:152350054-152350054	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.983_984insA; p.I330fs*2; 4:152332597-152332598	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1417_1418insA; p.R473fs*4; 4:152328208-152328209	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1417_1418insA; p.R473fs*4; 4:152328208-152328209	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1417_1418insA; p.R473fs*4; 4:152328208-152328209	endometrium	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1417_1418insA; p.R473fs*4; 4:152328208-152328209	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1617_1618insG; p.H540fs*3; 4:152326032-152326033	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1417_1418insA; p.R473fs*4; 4:152328208-152328209	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1417_1418insA; p.R473fs*4; 4:152328208-152328209	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1177C>T; p.R393*; 4:152329731-152329731	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1510G>A; p.V504I; 4:152326140-152326140	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1177C>T; p.R393*; 4:152329731-152329731	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.285delA; p.E96fs*73; 4:152411519-152411519	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.845C>A; p.S282*; 4:152337818-152337818	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1177C>T; p.R393*; 4:152329731-152329731	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1177C>T; p.R393*; 4:152329731-152329731	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.845C>A; p.S282*; 4:152337818-152337818	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1177C>T; p.R393*; 4:152329731-152329731	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.845C>A; p.S282*; 4:152337818-152337818	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1952T>A; p.L651*; 4:152323053-152323053	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1510G>A; p.V504I; 4:152326140-152326140	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1177C>T; p.R393*; 4:152329731-152329731	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.329A>G; p.E110G; 4:152411475-152411475	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1618C>T; p.H540Y; 4:152326032-152326032	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1618C>T; p.H540Y; 4:152326032-152326032	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2066G>T; p.R689L; 4:152322939-152322939	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1637C>T; p.S546L; 4:152326013-152326013	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1555T>G; p.Y519D; 4:152326095-152326095	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1678G>A; p.D560N; 4:152324361-152324361	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2033C>G; p.S678*; 4:152322972-152322972	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2033C>G; p.S678*; 4:152322972-152322972	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1070G>A; p.R357K; 4:152330784-152330784	breast	carcinoma	Substitution - Missense
c.293A>G; p.Q98R; 4:152411511-152411511	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1312T>C; p.S438P; 4:152328314-152328314	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1417delA; p.R473fs*25; 4:152328209-152328209	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1428C>A; p.S476R; 4:152326222-152326222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>C; p.R465P; 4:152328232-152328232	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1417delA; p.R473fs*25; 4:152328209-152328209	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.293A>G; p.Q98R; 4:152411511-152411511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1321C>A; p.R441R; 4:152328305-152328305	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1321C>A; p.R441R; 4:152328305-152328305	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1417delA; p.R473fs*25; 4:152328209-152328209	NS	malignant_melanoma	Deletion - Frameshift
c.386A>C; p.D129A; 4:152411418-152411418	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1792A>G; p.N598D; 4:152324247-152324247	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.486T>A; p.Y162*; 4:152411318-152411318	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1230A>G; p.T410T; 4:152329678-152329678	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1313C>T; p.S438F; 4:152328313-152328313	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1313C>T; p.S438F; 4:152328313-152328313	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; rectum	NS	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	ovary	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	small_intestine; ileum	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1208_1209insT; p.L403fs*34; 4:152329699-152329700	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.711G>A; p.W237*; 4:152346945-152346945	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine	adenoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	small_intestine; jejunum	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; colon	adenoma; tubular	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1337G>A; p.W446*; 4:152328289-152328289	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	endometrium	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>A; p.R465H; 4:152328232-152328232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.936A>G; p.R312R; 4:152332645-152332645	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.846A>G; p.S282S; 4:152337817-152337817	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1587G>A; p.E529E; 4:152326063-152326063	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1631T>G; p.V544G; 4:152326019-152326019	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1187G>A; p.S396N; 4:152329721-152329721	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.943G>A; p.A315T; 4:152332638-152332638	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.943G>A; p.A315T; 4:152332638-152332638	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.726+2delT; p.?; 4:152346928-152346928	large_intestine	carcinoma; adenocarcinoma	Unknown
c.1606A>C; p.T536P; 4:152326044-152326044	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1436_1437insT; p.D480fs*5; 4:152326213-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.563G>T; p.C188F; 4:152350063-152350063	soft_tissue; fibrous_tissue_and_uncertain_o	gastrointestinal_stromal_tumour; spindle	Substitution - Missense
c.1738C>T; p.H580Y; 4:152324301-152324301	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1781T>C; p.L594P; 4:152324258-152324258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1781T>C; p.L594P; 4:152324258-152324258	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1781T>C; p.L594P; 4:152324258-152324258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.893C>T; p.P298L; 4:152332688-152332688	skin	malignant_melanoma	Substitution - Missense
c.1172G>A; p.G391D; 4:152329736-152329736	breast	carcinoma	Substitution - Missense
c.1578G>A; p.W526*; 4:152326072-152326072	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.1834C>T; p.Q612*; 4:152324205-152324205	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.1513C>A; p.R505S; 4:152326137-152326137	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.321A>G; p.E107E; 4:152411483-152411483	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1513C>A; p.R505S; 4:152326137-152326137	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1513C>A; p.R505S; 4:152326137-152326137	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1409A>G; p.H470R; 4:152328217-152328217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1156T>A; p.C386S; 4:152329752-152329752	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.555G>T; p.K185N; 4:152350071-152350071	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1322G>A; p.R441Q; 4:152328304-152328304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.894C>T; p.P298P; 4:152332687-152332687	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.985G>T; p.G329W; 4:152332596-152332596	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1409A>G; p.H470R; 4:152328217-152328217	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2066G>A; p.R689Q; 4:152322939-152322939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2066G>A; p.R689Q; 4:152322939-152322939	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1411G>T; p.E471*; 4:152328215-152328215	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.1411G>T; p.E471*; 4:152328215-152328215	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.38G>T; p.R13L; 4:152411766-152411766	breast	carcinoma	Substitution - Missense
c.1329_1330insGG; p.K444fs*55; 4:152328296-152328297	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.1688T>C; p.I563T; 4:152324351-152324351	pancreas	NS	Substitution - Missense
c.1438G>A; p.D480N; 4:152326212-152326212	liver	carcinoma	Substitution - Missense
c.37C>T; p.R13*; 4:152411767-152411767	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.37C>T; p.R13*; 4:152411767-152411767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.37C>T; p.R13*; 4:152411767-152411767	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.862-1G>T; p.?; 4:152332720-152332720	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.358C>T; p.Q120*; 4:152411446-152411446	skin	malignant_melanoma	Substitution - Nonsense
c.1744T>A; p.S582T; 4:152324295-152324295	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.358C>T; p.Q120*; 4:152411446-152411446	skin	malignant_melanoma	Substitution - Nonsense
c.2060G>A; p.G687E; 4:152322945-152322945	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1617G>A; p.G539G; 4:152326033-152326033	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.934A>G; p.R312G; 4:152332647-152332647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1269A>T; p.G423G; 4:152328357-152328357	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.934A>G; p.R312G; 4:152332647-152332647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1798G>T; p.D600Y; 4:152324241-152324241	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.468A>T; p.Q156H; 4:152411336-152411336	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1798G>T; p.D600Y; 4:152324241-152324241	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.792A>G; p.Q264Q; 4:152337871-152337871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1393C>A; p.R465S; 4:152328233-152328233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1629A>G; p.R543R; 4:152326021-152326021	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1498C>T; p.H500Y; 4:152326152-152326152	skin	malignant_melanoma	Substitution - Missense
c.1318G>A; p.D440N; 4:152328308-152328308	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1318G>A; p.D440N; 4:152328308-152328308	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1704_1705GG>TT; p.V568>?; 4:152324334-152324335	lung	carcinoma; adenocarcinoma	Complex
c.1338G>T; p.W446C; 4:152328288-152328288	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1552G>A; p.A518T; 4:152326098-152326098	endometrium	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.670C>T; p.R224*; 4:152346986-152346986	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1110_1111insTC; p.K371fs*7; 4:152330743-152330744	endometrium	carcinoma; adenocarcinoma	Insertion - Frameshift
c.670C>T; p.R224*; 4:152346986-152346986	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.670C>T; p.R224*; 4:152346986-152346986	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.670C>T; p.R224*; 4:152346986-152346986	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.670C>T; p.R224*; 4:152346986-152346986	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.670C>T; p.R224*; 4:152346986-152346986	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1419-2A>C; p.?; 4:152326233-152326233	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1338G>T; p.W446C; 4:152328288-152328288	pancreas	carcinoma	Substitution - Missense
c.670C>T; p.R224*; 4:152346986-152346986	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1435C>A; p.R479R; 4:152326215-152326215	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.994G>A; p.E332K; 4:152330860-152330860	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1436G>C; p.R479P; 4:152326214-152326214	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1265G>T; p.G422V; 4:152328361-152328361	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1859C>T; p.P620L; 4:152323146-152323146	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1309G>A; p.G437R; 4:152328317-152328317	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>C; p.R479P; 4:152326214-152326214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.529delG; p.E177fs*62; 4:152350097-152350097	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1855+1G>A; p.?; 4:152324183-152324183	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.585-4delG; p.?; 4:152347075-152347075	eye; uveal_tract	malignant_melanoma; spindle	Unknown
c.1475delA; p.Q492fs*6; 4:152326175-152326175	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1745C>T; p.S582L; 4:152324294-152324294	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1745C>T; p.S582L; 4:152324294-152324294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1745C>T; p.S582L; 4:152324294-152324294	large_intestine	adenoma	Substitution - Missense
c.1745C>T; p.S582L; 4:152324294-152324294	breast	carcinoma	Substitution - Missense
c.1745C>T; p.S582L; 4:152324294-152324294	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1745C>T; p.S582L; 4:152324294-152324294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1745C>T; p.S582L; 4:152324294-152324294	breast	carcinoma	Substitution - Missense
c.802_803delAT; p.M268fs*18; 4:152337860-152337861	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1745C>T; p.S582L; 4:152324294-152324294	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1745C>T; p.S582L; 4:152324294-152324294	breast	carcinoma	Substitution - Missense
c.1745C>T; p.S582L; 4:152324294-152324294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.254T>G; p.I85S; 4:152411550-152411550	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1745C>T; p.S582L; 4:152324294-152324294	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1745C>T; p.S582L; 4:152324294-152324294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1745C>T; p.S582L; 4:152324294-152324294	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1745C>T; p.S582L; 4:152324294-152324294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1745C>T; p.S582L; 4:152324294-152324294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1745C>T; p.S582L; 4:152324294-152324294	breast	carcinoma	Substitution - Missense
c.1745C>T; p.S582L; 4:152324294-152324294	breast	carcinoma	Substitution - Missense

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]