Entrez Gene

Basic Information
Gene ID	1387
Name	CREBBP
Synonymous	CREB binding protein;CREBBP;CREB binding protein
Definition	CREB-binding protein
Position	16p13.3
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 0.22.

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.2950A>C; p.N984H; 16:3769284-3769284	pancreas	carcinoma	Substitution - Missense
c.1171G>A; p.V391I; 16:3793431-3793431	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2809C>A; p.P937T; 16:3770641-3770641	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3435G>A; p.G1145G; 16:3757983-3757983	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2950A>C; p.N984H; 16:3769284-3769284	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.466C>T; p.Q156*; 16:3850629-3850629	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.6484G>C; p.G2162R; 16:3728563-3728563	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.6484G>C; p.G2162R; 16:3728563-3728563	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.6484G>C; p.G2162R; 16:3728563-3728563	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.4840T>C; p.S1614P; 16:3731826-3731826	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2172T>C; p.F724F; 16:3774680-3774680	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4412T>A; p.I1471N; 16:3736798-3736798	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1401C>A; p.A467A; 16:3782856-3782856	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2705C>T; p.T902I; 16:3770745-3770745	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4298A>G; p.Y1433C; 16:3738655-3738655	lung; right_upper_lobe	carcinoma; small_cell_carcinoma	Substitution - Missense
c.7086C>T; p.S2362S; 16:3727961-3727961	skin	malignant_melanoma	Substitution - coding silent
c.7107C>T; p.P2369P; 16:3727940-3727940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5719G>A; p.A1907T; 16:3729328-3729328	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6033C>T; p.P2011P; 16:3729014-3729014	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2925delC; p.S976fs*22; 16:3769309-3769309	pancreas	carcinoma; acinar_carcinoma	Deletion - Frameshift
c.4478_4479insA; p.P1494fs*25; 16:3736731-3736732	skin; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2925delC; p.S976fs*22; 16:3769309-3769309	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.7115C>T; p.S2372L; 16:3727932-3727932	breast	carcinoma	Substitution - Missense
c.4336C>G; p.R1446G; 16:3738617-3738617	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6943A>T; p.S2315C; 16:3728104-3728104	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4336C>G; p.R1446G; 16:3738617-3738617	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.7082C>T; p.S2361F; 16:3727965-3727965	liver	carcinoma	Substitution - Missense
c.2159G>T; p.G720V; 16:3774693-3774693	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3689A>C; p.Y1230S; 16:3757297-3757297	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.424G>C; p.G142R; 16:3850671-3850671	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4893C>A; p.V1631V; 16:3731471-3731471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2978delC; p.P993fs*5; 16:3769256-3769256	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.4336C>G; p.R1446G; 16:3738617-3738617	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3250_3250+1insA; p.I1084fs*3; 16:3767719-3767720	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.3250_3250+1insA; p.I1084fs*3; 16:3767719-3767720	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.3250_3250+1insA; p.I1084fs*3; 16:3767719-3767720	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2140C>T; p.R714C; 16:3777631-3777631	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2237_2238insC; p.M747fs*85; 16:3774614-3774615	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3829C>G; p.P1277A; 16:3749634-3749634	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1133G>A; p.R378Q; 16:3793469-3793469	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4577C>T; p.A1526V; 16:3736187-3736187	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1937G>A; p.S646N; 16:3778704-3778704	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5410C>T; p.H1804Y; 16:3729637-3729637	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4336C>A; p.R1446S; 16:3738617-3738617	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5410C>T; p.H1804Y; 16:3729637-3729637	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4022G>A; p.R1341Q; 16:3740510-3740510	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.576C>G; p.N192K; 16:3850519-3850519	liver	carcinoma	Substitution - Missense
c.5035_5037delTCC; p.S1680delS; 16:3731327-3731329	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Deletion - In frame
c.5399G>A; p.R1800Q; 16:3729648-3729648	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.5399G>A; p.R1800Q; 16:3729648-3729648	skin	malignant_melanoma	Substitution - Missense
c.5282C>A; p.S1761*; 16:3729765-3729765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4445A>T; p.Y1482F; 16:3736765-3736765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5035_5037delTCC; p.S1680delS; 16:3731327-3731329	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - In frame
c.5035_5037delTCC; p.S1680delS; 16:3731327-3731329	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - In frame
c.5035_5037delTCC; p.S1680delS; 16:3731327-3731329	lung	carcinoma; small_cell_carcinoma	Deletion - In frame
c.5035_5037delTCC; p.S1680delS; 16:3731327-3731329	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - In frame
c.5035_5037delTCC; p.S1680delS; 16:3731327-3731329	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Deletion - In frame
c.4445A>T; p.Y1482F; 16:3736765-3736765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3710G>A; p.C1237Y; 16:3751795-3751795	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1717A>G; p.T573A; 16:3780838-3780838	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3059A>T; p.E1020V; 16:3769175-3769175	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.3506G>A; p.R1169H; 16:3757912-3757912	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2178C>T; p.P726P; 16:3774674-3774674	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4740C>T; p.G1580G; 16:3731926-3731926	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3505C>T; p.R1169C; 16:3757913-3757913	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.3979A>T; p.K1327*; 16:3744897-3744897	skin	malignant_melanoma	Substitution - Nonsense
c.1594C>T; p.P532S; 16:3781286-3781286	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3505C>T; p.R1169C; 16:3757913-3757913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6967_6968GG>AA; p.G2323K; 16:3728079-3728080	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3505C>T; p.R1169C; 16:3757913-3757913	breast	carcinoma	Substitution - Missense
c.6952C>G; p.Q2318E; 16:3728095-3728095	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4873A>G; p.M1625V; 16:3731793-3731793	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.152T>G; p.L51*; 16:3850943-3850943	soft_tissue; striated_muscle	rhabdomyosarcoma; alveolar	Substitution - Nonsense
c.6984G>A; p.S2328S; 16:3728063-3728063	prostate	carcinoma	Substitution - coding silent
c.2615C>T; p.T872M; 16:3770835-3770835	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5424C>A; p.C1808*; 16:3729623-3729623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5604G>A; p.R1868R; 16:3729443-3729443	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2191A>G; p.N731D; 16:3774661-3774661	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Missense
c.6146C>A; p.A2049D; 16:3728901-3728901	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6513G>A; p.L2171L; 16:3728534-3728534	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1890_1893delAGCC; p.A631fs*23; 16:3778748-3778751	urinary_tract; bladder	carcinoma	Deletion - Frameshift
c.1293C>T; p.L431L; 16:3792018-3792018	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1890_1893delAGCC; p.A631fs*23; 16:3778748-3778751	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.4471C>G; p.Q1491E; 16:3736739-3736739	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6513G>A; p.L2171L; 16:3728534-3728534	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4211G>T; p.G1404V; 16:3739647-3739647	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4813A>G; p.K1605E; 16:3731853-3731853	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4652A>G; p.E1551G; 16:3736112-3736112	skin	malignant_melanoma	Substitution - Missense
c.3217C>T; p.Q1073*; 16:3767753-3767753	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.3370-5_3370-4delTT; p.?; 16:3758052-3758053	ovary	carcinoma; serous_carcinoma	Unknown
c.4901T>C; p.V1634A; 16:3731463-3731463	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3217C>T; p.Q1073*; 16:3767753-3767753	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3217C>T; p.Q1073*; 16:3767753-3767753	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2651C>T; p.A884V; 16:3770799-3770799	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4262G>A; p.C1421Y; 16:3739596-3739596	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.4251C>A; p.Y1417*; 16:3739607-3739607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1644A>G; p.E548E; 16:3781236-3781236	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6237C>T; p.S2079S; 16:3728810-3728810	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6621A>G; p.Q2207Q; 16:3728426-3728426	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4415G>C; p.W1472S; 16:3736795-3736795	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.5404G>A; p.V1802M; 16:3729643-3729643	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1893C>A; p.A631A; 16:3778748-3778748	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2748T>C; p.P916P; 16:3770702-3770702	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7231delC; p.Q2411fs*2; 16:3727816-3727816	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5386C>T; p.Q1796*; 16:3729661-3729661	oesophagus	carcinoma	Substitution - Nonsense
c.1744_1745CC>TTT; p.P582fs*4; 16:3780810-3780811	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Complex - frameshift
c.3153G>C; p.K1051N; 16:3767817-3767817	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1744_1745CC>TTT; p.P582fs*4; 16:3780810-3780811	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Complex - frameshift
c.4496T>A; p.L1499Q; 16:3736714-3736714	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4627G>A; p.D1543N; 16:3736137-3736137	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7192G>T; p.G2398*; 16:3727855-3727855	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3671A>G; p.D1224G; 16:3757315-3757315	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.5573G>A; p.R1858H; 16:3729474-3729474	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4837G>A; p.V1613M; 16:3731829-3731829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3394C>T; p.P1132S; 16:3758024-3758024	skin	malignant_melanoma	Substitution - Missense
c.4735C>T; p.Q1579*; 16:3731931-3731931	ovary	other; neoplasm	Substitution - Nonsense
c.2861C>A; p.A954D; 16:3770589-3770589	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5831delC; p.P1946fs*30; 16:3729216-3729216	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.2879C>T; p.P960L; 16:3770571-3770571	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6303C>G; p.I2101M; 16:3728744-3728744	breast	carcinoma	Substitution - Missense
c.5933A>G; p.N1978S; 16:3729114-3729114	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.3484A>G; p.N1162D; 16:3757934-3757934	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.942C>T; p.I314I; 16:3810636-3810636	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.4447A>T; p.I1483F; 16:3736763-3736763	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3061-2A>G; p.?; 16:3767911-3767911	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.3419G>A; p.R1140Q; 16:3757999-3757999	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5300C>T; p.S1767L; 16:3729747-3729747	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6441T>G; p.A2147A; 16:3728606-3728606	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.711C>T; p.S237S; 16:3850384-3850384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.331A>T; p.N111Y; 16:3850764-3850764	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3493T>C; p.W1165R; 16:3757925-3757925	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3268T>C; p.L1090L; 16:3758955-3758955	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6763C>T; p.P2255S; 16:3728284-3728284	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1238G>A; p.R413Q; 16:3792073-3792073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3833_3836+19del23; p.?; 16:3749608-3749630	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.5891G>A; p.R1964H; 16:3729156-3729156	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2686G>A; p.G896R; 16:3770764-3770764	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.535G>A; p.A179T; 16:3850560-3850560	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5371T>C; p.S1791P; 16:3729676-3729676	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1942-1G>T; p.?; 16:3778183-3778183	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.4263_4264insC; p.P1424fs*13; 16:3739594-3739595	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Insertion - Frameshift
c.687A>T; p.P229P; 16:3850408-3850408	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3221C>G; p.S1074*; 16:3767749-3767749	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2438C>T; p.P813L; 16:3773776-3773776	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3375T>A; p.Y1125*; 16:3758043-3758043	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Nonsense
c.5064G>A; p.T1688T; 16:3731300-3731300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3759C>T; p.D1253D; 16:3751746-3751746	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1148C>G; p.P383R; 16:3793454-3793454	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4707_4708insGCACT; p.A1571fs*66; 16:3736056-3736057	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Insertion - Frameshift
c.3517C>T; p.R1173*; 16:3757901-3757901	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3517C>T; p.R1173*; 16:3757901-3757901	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.3517C>T; p.R1173*; 16:3757901-3757901	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.95C>T; p.S32L; 16:3851000-3851000	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3517C>T; p.R1173*; 16:3757901-3757901	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Nonsense
c.4101G>C; p.K1367N; 16:3740431-3740431	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3449C>A; p.P1150H; 16:3757969-3757969	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3449C>A; p.P1150H; 16:3757969-3757969	large_intestine; colon	carcinoma	Substitution - Missense
c.586_587insT; p.S196fs*4; 16:3850508-3850509	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.3517C>T; p.R1173*; 16:3757901-3757901	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1521G>T; p.Q507H; 16:3782736-3782736	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3517C>T; p.R1173*; 16:3757901-3757901	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3310C>T; p.Q1104*; 16:3758913-3758913	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.4301T>C; p.L1434P; 16:3738652-3738652	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.4078C>T; p.R1360*; 16:3740454-3740454	skin	malignant_melanoma	Substitution - Nonsense
c.1874G>A; p.R625H; 16:3778767-3778767	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6030G>A; p.G2010G; 16:3729017-3729017	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.4078C>T; p.R1360*; 16:3740454-3740454	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.3310C>T; p.Q1104*; 16:3758913-3758913	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.4870A>C; p.T1624P; 16:3731796-3731796	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.113delA; p.N38fs*7; 16:3850982-3850982	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - Frameshift
c.4078C>T; p.R1360*; 16:3740454-3740454	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3884T>C; p.V1295A; 16:3745307-3745307	skin	malignant_melanoma	Substitution - Missense
c.4444T>C; p.Y1482H; 16:3736766-3736766	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.4444T>C; p.Y1482H; 16:3736766-3736766	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5698C>G; p.P1900A; 16:3729349-3729349	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4445A>G; p.Y1482C; 16:3736765-3736765	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1389G>A; p.G463G; 16:3782868-3782868	prostate	carcinoma	Substitution - coding silent
c.1823+4C>A; p.?; 16:3780728-3780728	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2224C>T; p.R742C; 16:3774628-3774628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7005C>T; p.I2335I; 16:3728042-3728042	skin	malignant_melanoma	Substitution - coding silent
c.4864T>C; p.Y1622H; 16:3731802-3731802	breast	carcinoma	Substitution - Missense
c.4548C>G; p.I1516M; 16:3736662-3736662	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.212C>T; p.S71L; 16:3850883-3850883	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4483A>T; p.K1495*; 16:3736727-3736727	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.7037C>T; p.P2346L; 16:3728010-3728010	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2499C>G; p.L833L; 16:3770951-3770951	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5269G>T; p.G1757C; 16:3729778-3729778	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3605G>A; p.R1202H; 16:3757813-3757813	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2499C>G; p.L833L; 16:3770951-3770951	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4498C>T; p.Q1500*; 16:3736712-3736712	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.775G>A; p.A259T; 16:3850320-3850320	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6841G>A; p.A2281T; 16:3728206-3728206	pancreas	NS	Substitution - Missense
c.4288T>G; p.Y1430D; 16:3738665-3738665	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3840C>T; p.F1280F; 16:3745351-3745351	skin	malignant_melanoma	Substitution - coding silent
c.6841G>A; p.A2281T; 16:3728206-3728206	pancreas	carcinoma	Substitution - Missense
c.775G>A; p.A259T; 16:3850320-3850320	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7201G>T; p.G2401W; 16:3727846-3727846	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.270C>T; p.S90S; 16:3850825-3850825	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.248A>C; p.N83T; 16:3850847-3850847	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.248A>C; p.N83T; 16:3850847-3850847	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3321G>A; p.E1107E; 16:3758902-3758902	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4455T>C; p.H1485H; 16:3736755-3736755	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.270C>T; p.S90S; 16:3850825-3850825	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4301T>A; p.L1434Q; 16:3738652-3738652	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.5266_5267delCA; p.Q1756fs*209; 16:3729780-3729781	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.5293C>T; p.Q1765*; 16:3729754-3729754	soft_tissue; blood_vessel	angiosarcoma	Substitution - Nonsense
c.2308C>T; p.P770S; 16:3773906-3773906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3454C>T; p.Q1152*; 16:3757964-3757964	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4282C>T; p.R1428C; 16:3738671-3738671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3373T>C; p.Y1125H; 16:3758045-3758045	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.35C>A; p.P12H; 16:3879882-3879882	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.578C>G; p.S193C; 16:3850517-3850517	breast	carcinoma	Substitution - Missense
c.2977C>T; p.P993S; 16:3769257-3769257	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1810C>T; p.L604L; 16:3780745-3780745	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2122C>T; p.L708L; 16:3777649-3777649	skin	malignant_melanoma	Substitution - coding silent
c.1718delC; p.L574fs*15; 16:3780837-3780837	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.1594C>A; p.P532T; 16:3781286-3781286	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4311T>G; p.I1437M; 16:3738642-3738642	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.399G>C; p.L133L; 16:3850696-3850696	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4480C>A; p.P1494T; 16:3736730-3736730	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.391C>T; p.P131S; 16:3850704-3850704	skin	malignant_melanoma	Substitution - Missense
c.3329C>G; p.P1110R; 16:3758894-3758894	skin	malignant_melanoma	Substitution - Missense
c.4309A>T; p.I1437F; 16:3738644-3738644	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4804C>T; p.R1602C; 16:3731862-3731862	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.485C>T; p.A162V; 16:3850610-3850610	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4508A>C; p.Y1503S; 16:3736702-3736702	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.170G>T; p.G57V; 16:3850925-3850925	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6253C>T; p.Q2085*; 16:3728794-3728794	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4990C>T; p.R1664C; 16:3731374-3731374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4990C>T; p.R1664C; 16:3731374-3731374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4990C>T; p.R1664C; 16:3731374-3731374	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4990C>T; p.R1664C; 16:3731374-3731374	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4990C>T; p.R1664C; 16:3731374-3731374	central_nervous_system; brain	glioma	Substitution - Missense
c.7161C>T; p.L2387L; 16:3727886-3727886	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3251-4G>A; p.?; 16:3758976-3758976	urinary_tract; bladder	carcinoma	Unknown
c.2827C>T; p.Q943*; 16:3770623-3770623	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3960A>G; p.K1320K; 16:3744916-3744916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1844C>T; p.T615I; 16:3778797-3778797	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3960A>G; p.K1320K; 16:3744916-3744916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3301_3302delCT; p.L1101fs*26; 16:3758921-3758922	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.1621C>T; p.Q541*; 16:3781259-3781259	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Nonsense
c.661G>A; p.G221R; 16:3850434-3850434	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3250delA; p.I1084fs*15; 16:3767720-3767720	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3250delA; p.I1084fs*15; 16:3767720-3767720	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2650G>A; p.A884T; 16:3770800-3770800	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3250delA; p.I1084fs*15; 16:3767720-3767720	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3250delA; p.I1084fs*15; 16:3767720-3767720	stomach	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3250delA; p.I1084fs*15; 16:3767720-3767720	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3507C>T; p.R1169R; 16:3757911-3757911	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3250delA; p.I1084fs*15; 16:3767720-3767720	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3250delA; p.I1084fs*15; 16:3767720-3767720	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7169C>A; p.T2390N; 16:3727878-3727878	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4358T>A; p.I1453N; 16:3738595-3738595	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.5048G>A; p.R1683H; 16:3731316-3731316	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.223C>T; p.R75*; 16:3850872-3850872	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.5264_5283del20; p.S1755fs*204; 16:3729764-3729783	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.223C>T; p.R75*; 16:3850872-3850872	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.3702T>G; p.Y1234*; 16:3751803-3751803	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Nonsense
c.4860G>A; p.K1620K; 16:3731806-3731806	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5087A>G; p.H1696R; 16:3731277-3731277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3368C>T; p.P1123L; 16:3758855-3758855	skin	malignant_melanoma	Substitution - Missense
c.694C>T; p.Q232*; 16:3850401-3850401	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.3483C>T; p.F1161F; 16:3757935-3757935	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4992C>T; p.R1664R; 16:3731372-3731372	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3517C>A; p.R1173R; 16:3757901-3757901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1647_1654delAGCTCTTC; p.A550fs*18; 16:3781226-3781233	liver	carcinoma	Deletion - Frameshift
c.4327C>T; p.R1443C; 16:3738626-3738626	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2782C>T; p.P928S; 16:3770668-3770668	skin	malignant_melanoma	Substitution - Missense
c.3517C>A; p.R1173R; 16:3757901-3757901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7281C>T; p.V2427V; 16:3727766-3727766	skin	malignant_melanoma	Substitution - coding silent
c.4687A>G; p.R1563G; 16:3736077-3736077	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.286C>T; p.Q96*; 16:3850809-3850809	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.286C>T; p.Q96*; 16:3850809-3850809	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3211G>A; p.A1071T; 16:3767759-3767759	ovary	carcinoma	Substitution - Missense
c.4687A>G; p.R1563G; 16:3736077-3736077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3211G>A; p.A1071T; 16:3767759-3767759	ovary	carcinoma	Substitution - Missense
c.4687A>G; p.R1563G; 16:3736077-3736077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3452G>T; p.W1151L; 16:3757966-3757966	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4687A>G; p.R1563G; 16:3736077-3736077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6431C>T; p.A2144V; 16:3728616-3728616	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.182C>T; p.P61L; 16:3850913-3850913	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2849C>T; p.T950M; 16:3770601-3770601	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.286C>T; p.Q96*; 16:3850809-3850809	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.286C>T; p.Q96*; 16:3850809-3850809	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.4687A>G; p.R1563G; 16:3736077-3736077	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.286C>T; p.Q96*; 16:3850809-3850809	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.760G>A; p.A254T; 16:3850335-3850335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2491_2497delAACCCTC; p.N831fs*16; 16:3770953-3770959	meninges	meningioma	Deletion - Frameshift
c.3718T>C; p.C1240R; 16:3751787-3751787	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.356G>T; p.G119V; 16:3850739-3850739	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5383T>C; p.C1795R; 16:3729664-3729664	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.7105C>A; p.P2369T; 16:3727942-3727942	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.760G>A; p.A254T; 16:3850335-3850335	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.6803T>C; p.M2268T; 16:3728244-3728244	breast	carcinoma	Substitution - Missense
c.4079G>A; p.R1360Q; 16:3740453-3740453	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6727G>A; p.A2243T; 16:3728320-3728320	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.7215G>T; p.Q2405H; 16:3727832-3727832	ovary	other; neoplasm	Substitution - Missense
c.2640C>T; p.P880P; 16:3770810-3770810	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1307C>T; p.A436V; 16:3792004-3792004	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3249_3250insA; p.I1084fs*3; 16:3767720-3767721	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3611A>T; p.Y1204F; 16:3757375-3757375	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4873A>T; p.M1625L; 16:3731793-3731793	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.4507T>C; p.Y1503H; 16:3736703-3736703	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4501_4503delGAG; p.E1501delE; 16:3736707-3736709	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; follicular_lymphoma	Deletion - In frame
c.2159-9C>T; p.?; 16:3774702-3774702	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.4507T>C; p.Y1503H; 16:3736703-3736703	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2666C>G; p.S889*; 16:3770784-3770784	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4507T>C; p.Y1503H; 16:3736703-3736703	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3274C>T; p.Q1092*; 16:3758949-3758949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.5166G>A; p.V1722V; 16:3731198-3731198	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1256G>A; p.W419*; 16:3792055-3792055	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.4501_4503delGAG; p.E1501delE; 16:3736707-3736709	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - In frame
c.3415A>G; p.K1139E; 16:3758003-3758003	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1256G>A; p.W419*; 16:3792055-3792055	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.3969A>G; p.K1323K; 16:3744907-3744907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4507T>C; p.Y1503H; 16:3736703-3736703	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1645T>G; p.S549A; 16:3781235-3781235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4507T>C; p.Y1503H; 16:3736703-3736703	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4507T>C; p.Y1503H; 16:3736703-3736703	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.6106C>G; p.P2036A; 16:3728941-3728941	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1689C>G; p.N563K; 16:3780866-3780866	skin; back	malignant_melanoma	Substitution - Missense
c.5796G>T; p.T1932T; 16:3729251-3729251	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3722T>A; p.F1241Y; 16:3751783-3751783	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6132C>A; p.A2044A; 16:3728915-3728915	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1258A>T; p.K420*; 16:3792053-3792053	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4686G>A; p.E1562E; 16:3736078-3736078	breast	carcinoma	Substitution - coding silent
c.6364C>T; p.Q2122*; 16:3728683-3728683	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.1258A>T; p.K420*; 16:3792053-3792053	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.4303G>T; p.D1435Y; 16:3738650-3738650	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1258A>T; p.K420*; 16:3792053-3792053	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4078C>A; p.R1360R; 16:3740454-3740454	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4078C>A; p.R1360R; 16:3740454-3740454	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3837-26_3837-5del22; p.?; 16:3745359-3745380	ovary	carcinoma	Unknown
c.234C>T; p.S78S; 16:3850861-3850861	liver	carcinoma	Substitution - coding silent
c.3883_3884insT; p.L1296fs*4; 16:3745307-3745308	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3893A>G; p.Y1298C; 16:3745298-3745298	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4071delT; p.F1358fs*18; 16:3740461-3740461	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.234C>T; p.S78S; 16:3850861-3850861	liver	carcinoma	Substitution - coding silent
c.4071delT; p.F1358fs*18; 16:3740461-3740461	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.1187C>T; p.T396M; 16:3793415-3793415	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7150delC; p.H2384fs*12; 16:3727897-3727897	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4506G>A; p.W1502*; 16:3736704-3736704	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3779+1delG; p.?; 16:3751725-3751725	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.3893A>G; p.Y1298C; 16:3745298-3745298	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5545A>T; p.K1849*; 16:3729502-3729502	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.2965G>T; p.G989*; 16:3769269-3769269	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3645G>A; p.G1215G; 16:3757341-3757341	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4640A>G; p.N1547S; 16:3736124-3736124	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.3114A>G; p.I1038M; 16:3767856-3767856	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7112C>T; p.P2371L; 16:3727935-3727935	skin	malignant_melanoma	Substitution - Missense
c.4209C>T; p.D1403D; 16:3739649-3739649	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.6795G>A; p.A2265A; 16:3728252-3728252	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2431G>A; p.G811R; 16:3773783-3773783	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.360G>A; p.K120K; 16:3850735-3850735	breast	carcinoma	Substitution - coding silent
c.666T>C; p.A222A; 16:3850429-3850429	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3370-5_3370-4delTT; p.?; 16:3758052-3758053	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Unknown
c.4463C>G; p.P1488R; 16:3736747-3736747	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4112T>A; p.V1371D; 16:3740420-3740420	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3832G>A; p.E1278K; 16:3749631-3749631	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6938C>T; p.P2313L; 16:3728109-3728109	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.5954G>A; p.R1985H; 16:3729093-3729093	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2811G>A; p.P937P; 16:3770639-3770639	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3860G>A; p.G1287D; 16:3745331-3745331	breast	carcinoma	Substitution - Missense
c.2811G>A; p.P937P; 16:3770639-3770639	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1573+2T>C; p.?; 16:3782682-3782682	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.1170C>T; p.N390N; 16:3793432-3793432	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2064delG; p.A690fs*5; 16:3778060-3778060	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.4358T>C; p.I1453T; 16:3738595-3738595	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4014G>A; p.L1338L; 16:3740518-3740518	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1407delT; p.L470fs*1; 16:3782850-3782850	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.1065G>A; p.Q355Q; 16:3793537-3793537	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2963C>T; p.P988L; 16:3769271-3769271	skin	malignant_melanoma	Substitution - Missense
c.4012T>C; p.L1338L; 16:3740520-3740520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4134-1G>A; p.?; 16:3739725-3739725	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.1507C>T; p.Q503*; 16:3782750-3782750	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1507C>T; p.Q503*; 16:3782750-3782750	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.5770G>A; p.V1924M; 16:3729277-3729277	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5271C>T; p.G1757G; 16:3729776-3729776	skin	malignant_melanoma	Substitution - coding silent
c.5271C>T; p.G1757G; 16:3729776-3729776	skin	malignant_melanoma	Substitution - coding silent
c.4668A>G; p.L1556L; 16:3736096-3736096	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1319G>A; p.R440Q; 16:3791992-3791992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4432G>A; p.E1478K; 16:3736778-3736778	skin	malignant_melanoma	Substitution - Missense
c.7153C>T; p.P2385S; 16:3727894-3727894	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5813C>A; p.P1938H; 16:3729234-3729234	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7067C>T; p.S2356F; 16:3727980-3727980	skin	malignant_melanoma	Substitution - Missense
c.4617T>G; p.Y1539*; 16:3736147-3736147	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.310C>T; p.Q104*; 16:3850785-3850785	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.6709C>A; p.P2237T; 16:3728338-3728338	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.732G>A; p.T244T; 16:3850363-3850363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1423C>T; p.P475S; 16:3782834-3782834	skin	malignant_melanoma	Substitution - Missense
c.1400C>T; p.A467V; 16:3782857-3782857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.310C>T; p.Q104*; 16:3850785-3850785	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.310C>T; p.Q104*; 16:3850785-3850785	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.732G>A; p.T244T; 16:3850363-3850363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1424C>T; p.P475L; 16:3782833-3782833	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2826T>C; p.P942P; 16:3770624-3770624	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.5038_5039insT; p.S1680fs*55; 16:3731325-3731326	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Insertion - Frameshift
c.2826T>C; p.P942P; 16:3770624-3770624	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2284-5C>G; p.?; 16:3773935-3773935	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.2284-5C>G; p.?; 16:3773935-3773935	liver	carcinoma	Unknown
c.5603G>T; p.R1868L; 16:3729444-3729444	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3461T>C; p.V1154A; 16:3757957-3757957	prostate	carcinoma	Substitution - Missense
c.799-10T>A; p.?; 16:3810789-3810789	ovary	other; neoplasm	Unknown
c.977C>T; p.S326F; 16:3793625-3793625	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6418C>T; p.Q2140*; 16:3728629-3728629	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.4307G>T; p.S1436I; 16:3738646-3738646	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5124C>T; p.N1708N; 16:3731240-3731240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4336C>T; p.R1446C; 16:3738617-3738617	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2126C>T; p.S709F; 16:3777645-3777645	skin; nipple	malignant_melanoma	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4428A>T; p.P1476P; 16:3736782-3736782	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4336C>T; p.R1446C; 16:3738617-3738617	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.5720C>T; p.A1907V; 16:3729327-3729327	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	skin	malignant_melanoma	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	salivary_gland; tongue	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	liver	carcinoma	Substitution - Missense
c.2843A>G; p.Q948R; 16:3770607-3770607	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4336C>T; p.R1446C; 16:3738617-3738617	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1170C>G; p.N390K; 16:3793432-3793432	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3720T>C; p.C1240C; 16:3751785-3751785	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.758A>T; p.H253L; 16:3850337-3850337	skin; upper_back	malignant_melanoma	Substitution - Missense
c.4175G>A; p.R1392Q; 16:3739683-3739683	breast	carcinoma	Substitution - Missense
c.3236A>G; p.Q1079R; 16:3767734-3767734	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6551G>A; p.S2184N; 16:3728496-3728496	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3519A>G; p.R1173R; 16:3757899-3757899	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.903G>T; p.Q301H; 16:3810675-3810675	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3236A>G; p.Q1079R; 16:3767734-3767734	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3720T>C; p.C1240C; 16:3751785-3751785	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2325G>A; p.M775I; 16:3773889-3773889	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6682C>G; p.H2228D; 16:3728365-3728365	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6682C>G; p.H2228D; 16:3728365-3728365	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6682C>G; p.H2228D; 16:3728365-3728365	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3874C>T; p.Q1292*; 16:3745317-3745317	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1399G>A; p.A467T; 16:3782858-3782858	ovary	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.6682C>G; p.H2228D; 16:3728365-3728365	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6682C>G; p.H2228D; 16:3728365-3728365	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6682C>G; p.H2228D; 16:3728365-3728365	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3874C>T; p.Q1292*; 16:3745317-3745317	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1491G>A; p.Q497Q; 16:3782766-3782766	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.6310C>T; p.R2104C; 16:3728737-3728737	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6055G>T; p.G2019W; 16:3728992-3728992	skin	malignant_melanoma	Substitution - Missense
c.3874C>T; p.Q1292*; 16:3745317-3745317	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.3246delA; p.I1084fs*15; 16:3767724-3767724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.6682C>G; p.H2228D; 16:3728365-3728365	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.913A>G; p.N305D; 16:3810665-3810665	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6310C>T; p.R2104C; 16:3728737-3728737	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2659C>T; p.Q887*; 16:3770791-3770791	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1923C>T; p.Y641Y; 16:3778718-3778718	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.6682C>G; p.H2228D; 16:3728365-3728365	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6310C>T; p.R2104C; 16:3728737-3728737	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6479C>T; p.A2160V; 16:3728568-3728568	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.4246G>C; p.E1416Q; 16:3739612-3739612	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4293T>C; p.I1431I; 16:3738660-3738660	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.852A>T; p.G284G; 16:3810726-3810726	skin	malignant_melanoma	Substitution - coding silent
c.6281C>T; p.P2094L; 16:3728766-3728766	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6281C>T; p.P2094L; 16:3728766-3728766	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4627G>T; p.D1543Y; 16:3736137-3736137	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3323C>A; p.S1108*; 16:3758900-3758900	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3034G>A; p.E1012K; 16:3769200-3769200	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.3323C>A; p.S1108*; 16:3758900-3758900	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.6281C>T; p.P2094L; 16:3728766-3728766	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6281C>T; p.P2094L; 16:3728766-3728766	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3323C>A; p.S1108*; 16:3758900-3758900	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.6764C>T; p.P2255L; 16:3728283-3728283	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4337G>A; p.R1446H; 16:3738616-3738616	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.536C>T; p.A179V; 16:3850559-3850559	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4337G>A; p.R1446H; 16:3738616-3738616	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.4337G>A; p.R1446H; 16:3738616-3738616	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.4337G>A; p.R1446H; 16:3738616-3738616	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4337G>A; p.R1446H; 16:3738616-3738616	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.4337G>A; p.R1446H; 16:3738616-3738616	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4337G>A; p.R1446H; 16:3738616-3738616	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.4337G>A; p.R1446H; 16:3738616-3738616	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.4337G>A; p.R1446H; 16:3738616-3738616	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.4337G>A; p.R1446H; 16:3738616-3738616	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4337G>A; p.R1446H; 16:3738616-3738616	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4337G>A; p.R1446H; 16:3738616-3738616	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4337G>A; p.R1446H; 16:3738616-3738616	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3269T>A; p.L1090*; 16:3758954-3758954	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.1053C>T; p.R351R; 16:3793549-3793549	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.617C>T; p.A206V; 16:3850478-3850478	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5712G>C; p.Q1904H; 16:3729335-3729335	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.5063C>T; p.T1688M; 16:3731301-3731301	breast	carcinoma	Substitution - Missense
c.1246A>G; p.I416V; 16:3792065-3792065	skin	malignant_melanoma	Substitution - Missense
c.5717delC; p.P1906fs*9; 16:3729330-3729330	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5343C>T; p.H1781H; 16:3729704-3729704	pancreas	carcinoma	Substitution - coding silent
c.2731C>T; p.Q911*; 16:3770719-3770719	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5063C>T; p.T1688M; 16:3731301-3731301	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2597T>C; p.M866T; 16:3770853-3770853	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2784G>A; p.P928P; 16:3770666-3770666	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.235G>A; p.G79S; 16:3850860-3850860	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5204C>T; p.T1735M; 16:3729843-3729843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4505G>A; p.W1502*; 16:3736705-3736705	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4213G>A; p.V1405M; 16:3739645-3739645	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2784G>A; p.P928P; 16:3770666-3770666	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.7175C>T; p.A2392V; 16:3727872-3727872	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6871C>A; p.L2291M; 16:3728176-3728176	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1063C>T; p.Q355*; 16:3793539-3793539	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3836+1G>A; p.?; 16:3749626-3749626	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.2279C>A; p.P760Q; 16:3774573-3774573	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3836+1G>A; p.?; 16:3749626-3749626	liver	carcinoma	Unknown
c.2255A>G; p.Q752R; 16:3774597-3774597	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1063C>T; p.Q355*; 16:3793539-3793539	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.5170G>A; p.E1724K; 16:3731194-3731194	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1063C>T; p.Q355*; 16:3793539-3793539	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.3836+1G>A; p.?; 16:3749626-3749626	liver	carcinoma	Unknown
c.3836+1G>A; p.?; 16:3749626-3749626	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Unknown
c.5039_5041delCCT; p.S1680delS; 16:3731323-3731325	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - In frame
c.5039_5041delCCT; p.S1680delS; 16:3731323-3731325	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - In frame
c.5039_5041delCCT; p.S1680delS; 16:3731323-3731325	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Deletion - In frame
c.5044C>T; p.R1682C; 16:3731320-3731320	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3882C>T; p.C1294C; 16:3745309-3745309	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5129G>C; p.C1710S; 16:3731235-3731235	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5039_5041delCCT; p.S1680delS; 16:3731323-3731325	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - In frame
c.714G>C; p.V238V; 16:3850381-3850381	skin; leg	malignant_melanoma; nodular	Substitution - coding silent
c.5039_5041delCCT; p.S1680delS; 16:3731323-3731325	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.4624G>A; p.G1542S; 16:3736140-3736140	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4506G>T; p.W1502C; 16:3736704-3736704	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4996G>A; p.A1666T; 16:3731368-3731368	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3147T>C; p.D1049D; 16:3767823-3767823	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4506G>T; p.W1502C; 16:3736704-3736704	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4506G>T; p.W1502C; 16:3736704-3736704	liver	carcinoma	Substitution - Missense
c.7285G>T; p.D2429Y; 16:3727762-3727762	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4981A>G; p.M1661V; 16:3731383-3731383	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4506G>T; p.W1502C; 16:3736704-3736704	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4506G>T; p.W1502C; 16:3736704-3736704	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.4506G>T; p.W1502C; 16:3736704-3736704	liver	carcinoma	Substitution - Missense
c.6325G>A; p.V2109M; 16:3728722-3728722	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1996G>C; p.E666Q; 16:3778128-3778128	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4268delC; p.P1423fs*36; 16:3739590-3739590	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4302G>T; p.L1434L; 16:3738651-3738651	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4224delC; p.F1410fs*49; 16:3739634-3739634	NS	NS	Deletion - Frameshift
c.7154_7155CC>TA; p.P2385L; 16:3727892-3727893	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3183G>A; p.E1061E; 16:3767787-3767787	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3982+2T>A; p.?; 16:3744892-3744892	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Unknown
c.2809C>T; p.P937S; 16:3770641-3770641	skin	malignant_melanoma	Substitution - Missense
c.2809C>T; p.P937S; 16:3770641-3770641	skin	malignant_melanoma	Substitution - Missense
c.3900C>A; p.I1300I; 16:3745291-3745291	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3959A>G; p.K1320R; 16:3744917-3744917	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5560C>T; p.Q1854*; 16:3729487-3729487	central_nervous_system; thalamus	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.7130C>T; p.S2377L; 16:3727917-3727917	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5986G>A; p.A1996T; 16:3729061-3729061	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3242G>A; p.R1081H; 16:3767728-3767728	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.3982+2T>A; p.?; 16:3744892-3744892	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.4232G>A; p.G1411E; 16:3739626-3739626	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.4232G>A; p.G1411E; 16:3739626-3739626	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.4022G>T; p.R1341L; 16:3740510-3740510	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3867G>A; p.K1289K; 16:3745324-3745324	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4022G>T; p.R1341L; 16:3740510-3740510	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4148G>T; p.G1383V; 16:3739710-3739710	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4689G>C; p.R1563S; 16:3736075-3736075	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.4021C>T; p.R1341*; 16:3740511-3740511	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1669G>A; p.A557T; 16:3781211-3781211	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4021C>T; p.R1341*; 16:3740511-3740511	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.4021C>T; p.R1341*; 16:3740511-3740511	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.4427C>G; p.P1476R; 16:3736783-3736783	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3622C>A; p.P1208T; 16:3757364-3757364	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5661A>G; p.S1887S; 16:3729386-3729386	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3779+1G>T; p.?; 16:3751725-3751725	urinary_tract; bladder	carcinoma	Unknown
c.5661A>G; p.S1887S; 16:3729386-3729386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1801C>T; p.R601W; 16:3780754-3780754	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4021C>T; p.R1341*; 16:3740511-3740511	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.6451C>T; p.R2151W; 16:3728596-3728596	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7059G>T; p.R2353R; 16:3727988-3727988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4444T>A; p.Y1482N; 16:3736766-3736766	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4021C>T; p.R1341*; 16:3740511-3740511	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.3779+1G>T; p.?; 16:3751725-3751725	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.4496T>C; p.L1499P; 16:3736714-3736714	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4496T>C; p.L1499P; 16:3736714-3736714	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.3779+1G>T; p.?; 16:3751725-3751725	urinary_tract; bladder	carcinoma	Unknown
c.520G>C; p.G174R; 16:3850575-3850575	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2236C>T; p.P746S; 16:3774616-3774616	skin	malignant_melanoma	Substitution - Missense
c.1557G>A; p.R519R; 16:3782700-3782700	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1941+2T>C; p.?; 16:3778698-3778698	liver	carcinoma	Unknown
c.1955A>G; p.H652R; 16:3778169-3778169	lung	carcinoid-endocrine_tumour; typical	Substitution - Missense
c.2294C>A; p.S765Y; 16:3773920-3773920	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2114A>G; p.N705S; 16:3777657-3777657	breast	carcinoma	Substitution - Missense
c.3911_3914+10delCAGGGTGAGTTGTT; p.?; 16:3745267-3745280	ovary	carcinoma; serous_carcinoma	Unknown
c.4948G>A; p.V1650I; 16:3731416-3731416	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2331T>C; p.G777G; 16:3773883-3773883	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4817A>G; p.K1606R; 16:3731849-3731849	pancreas	carcinoma	Substitution - Missense
c.6012A>T; p.R2004R; 16:3729035-3729035	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.335T>C; p.M112T; 16:3850760-3850760	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6661A>G; p.M2221V; 16:3728386-3728386	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.682A>G; p.T228A; 16:3850413-3850413	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3689A>G; p.Y1230C; 16:3757297-3757297	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4404_4405delAG; p.G1469fs*9; 16:3736805-3736806	breast	other; fibroadenoma	Deletion - Frameshift
c.798G>A; p.K266K; 16:3850297-3850297	skin	malignant_melanoma	Substitution - coding silent
c.6972G>T; p.Q2324H; 16:3728075-3728075	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4396_4397insT; p.Y1466fs*13; 16:3736813-3736814	oesophagus; lower_third	carcinoma; adenocarcinoma	Insertion - Frameshift
c.5944C>T; p.P1982S; 16:3729103-3729103	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3059A>G; p.E1020G; 16:3769175-3769175	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3689A>G; p.Y1230C; 16:3757297-3757297	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3689A>G; p.Y1230C; 16:3757297-3757297	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3527A>T; p.K1176M; 16:3757891-3757891	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.910G>A; p.V304I; 16:3810668-3810668	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2498_2499delTC; p.L833fs*136; 16:3770951-3770952	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4304A>G; p.D1435G; 16:3738649-3738649	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2441C>T; p.P814L; 16:3773773-3773773	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4304A>G; p.D1435G; 16:3738649-3738649	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.3269T>C; p.L1090S; 16:3758954-3758954	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2506C>A; p.L836M; 16:3770944-3770944	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1167_1184del18; p.N390_M395delNVLNHM; 16:3793418-3793435	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Deletion - In frame
c.3478A>G; p.M1160V; 16:3757940-3757940	ovary	carcinoma	Substitution - Missense
c.6823G>A; p.G2275R; 16:3728224-3728224	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2141G>A; p.R714H; 16:3777630-3777630	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2598G>T; p.M866I; 16:3770852-3770852	thyroid	other; neoplasm	Substitution - Missense
c.2567C>T; p.T856I; 16:3770883-3770883	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1369A>G; p.I457V; 16:3782888-3782888	central_nervous_system; brain	glioma	Substitution - Missense
c.1945G>A; p.E649K; 16:3778179-3778179	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1855G>A; p.A619T; 16:3778786-3778786	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4865A>G; p.Y1622C; 16:3731801-3731801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4243C>T; p.Q1415*; 16:3739615-3739615	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4243C>T; p.Q1415*; 16:3739615-3739615	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Nonsense
c.2254C>T; p.Q752*; 16:3774598-3774598	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.5266C>T; p.Q1756*; 16:3729781-3729781	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2356C>A; p.Q786K; 16:3773858-3773858	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4198G>T; p.E1400*; 16:3739660-3739660	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5624G>T; p.R1875L; 16:3729423-3729423	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6292G>T; p.A2098S; 16:3728755-3728755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4013T>C; p.L1338S; 16:3740519-3740519	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4013T>C; p.L1338S; 16:3740519-3740519	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5406G>C; p.V1802V; 16:3729641-3729641	breast	carcinoma	Substitution - coding silent
c.1103_1104insA; p.R369fs*58; 16:3793498-3793499	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.3570C>T; p.D1190D; 16:3757848-3757848	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1612A>C; p.T538P; 16:3781268-3781268	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4051delC; p.H1351fs*25; 16:3740481-3740481	salivary_gland; maxilla	carcinoma; adenoid_cystic_carcinoma	Deletion - Frameshift
c.5333C>T; p.S1778L; 16:3729714-3729714	skin	malignant_melanoma	Substitution - Missense
c.4807G>T; p.A1603S; 16:3731859-3731859	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2528T>A; p.L843Q; 16:3770922-3770922	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5048G>C; p.R1683P; 16:3731316-3731316	central_nervous_system; brain	glioma	Substitution - Missense
c.5048G>C; p.R1683P; 16:3731316-3731316	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2562C>T; p.H854H; 16:3770888-3770888	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5982G>C; p.Q1994H; 16:3729065-3729065	breast	carcinoma	Substitution - Missense
c.5278C>T; p.Q1760*; 16:3729769-3729769	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6227C>T; p.S2076L; 16:3728820-3728820	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4627G>C; p.D1543H; 16:3736137-3736137	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1990G>T; p.E664*; 16:3778134-3778134	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1464C>A; p.L488L; 16:3782793-3782793	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3599G>A; p.C1200Y; 16:3757819-3757819	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4471_4473delCAA; p.Q1491delQ; 16:3736737-3736739	lung	carcinoma; small_cell_carcinoma	Deletion - In frame
c.2978C>A; p.P993H; 16:3769256-3769256	skin	malignant_melanoma	Substitution - Missense
c.5418G>C; p.K1806N; 16:3729629-3729629	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2390_2391insA; p.N797fs*35; 16:3773823-3773824	breast	carcinoma	Insertion - Frameshift
c.3158C>A; p.P1053H; 16:3767812-3767812	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4427C>T; p.P1476L; 16:3736783-3736783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2103G>A; p.V701V; 16:3778021-3778021	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4135T>G; p.F1379V; 16:3739723-3739723	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2018T>A; p.L673*; 16:3778106-3778106	thyroid	carcinoma	Substitution - Nonsense
c.7030C>T; p.R2344W; 16:3728017-3728017	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4778C>A; p.T1593N; 16:3731888-3731888	breast	carcinoma	Substitution - Missense
c.4822C>T; p.P1608S; 16:3731844-3731844	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7030C>T; p.R2344W; 16:3728017-3728017	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4459C>T; p.H1487Y; 16:3736751-3736751	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4459C>T; p.H1487Y; 16:3736751-3736751	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4681G>T; p.E1561*; 16:3736083-3736083	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.4459C>T; p.H1487Y; 16:3736751-3736751	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1445A>G; p.Q482R; 16:3782812-3782812	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5065C>T; p.L1689F; 16:3731299-3731299	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2667_2669delAAC; p.T890delT; 16:3770781-3770783	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.6910C>T; p.Q2304*; 16:3728137-3728137	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.4471C>A; p.Q1491K; 16:3736739-3736739	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2678C>T; p.S893L; 16:3770772-3770772	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2678C>T; p.S893L; 16:3770772-3770772	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6130G>T; p.A2044S; 16:3728917-3728917	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4039C>T; p.R1347W; 16:3740493-3740493	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.4471C>A; p.Q1491K; 16:3736739-3736739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4471C>A; p.Q1491K; 16:3736739-3736739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2678C>T; p.S893L; 16:3770772-3770772	breast	carcinoma	Substitution - Missense
c.2678C>T; p.S893L; 16:3770772-3770772	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Missense
c.3205G>C; p.G1069R; 16:3767765-3767765	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.4039C>T; p.R1347W; 16:3740493-3740493	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4303G>A; p.D1435N; 16:3738650-3738650	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1187C>G; p.T396R; 16:3793415-3793415	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.761C>T; p.A254V; 16:3850334-3850334	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4008C>G; p.N1336K; 16:3740524-3740524	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5040_5042delCTT; p.L1681delL; 16:3731322-3731324	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - In frame
c.5040_5042delCTT; p.L1681delL; 16:3731322-3731324	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Deletion - In frame
c.4395-1G>A; p.?; 16:3736816-3736816	lung	carcinoma; small_cell_carcinoma	Unknown
c.4300_4325del26; p.L1434fs*10; 16:3738628-3738653	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.6624A>C; p.Q2208H; 16:3728423-3728423	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4419delC; p.C1474fs*76; 16:3736791-3736791	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.4446C>T; p.Y1482Y; 16:3736764-3736764	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6989T>G; p.L2330R; 16:3728058-3728058	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3148G>T; p.E1050*; 16:3767822-3767822	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.3237G>T; p.Q1079H; 16:3767733-3767733	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2516A>G; p.Q839R; 16:3770934-3770934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2015G>A; p.R672H; 16:3778109-3778109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4508A>T; p.Y1503F; 16:3736702-3736702	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4508A>T; p.Y1503F; 16:3736702-3736702	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1229C>T; p.A410V; 16:3792082-3792082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4508A>T; p.Y1503F; 16:3736702-3736702	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4508A>T; p.Y1503F; 16:3736702-3736702	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3305A>G; p.Y1102C; 16:3758918-3758918	stomach	adenocarcinoma	Substitution - Missense
c.760G>C; p.A254P; 16:3850335-3850335	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1334_1335insCCAT; p.L446fs*7; 16:3782922-3782923	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Insertion - Frameshift
c.3836C>T; p.P1279L; 16:3749627-3749627	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1847C>G; p.P616R; 16:3778794-3778794	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5139C>T; p.H1713H; 16:3731225-3731225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4063G>A; p.G1355R; 16:3740469-3740469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3937A>C; p.K1313Q; 16:3744939-3744939	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.7088C>T; p.P2363L; 16:3727959-3727959	NS	malignant_melanoma	Substitution - Missense
c.858G>T; p.Q286H; 16:3810720-3810720	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4212C>T; p.G1404G; 16:3739646-3739646	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6452G>A; p.R2151Q; 16:3728595-3728595	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3468C>T; p.D1156D; 16:3757950-3757950	stomach	adenocarcinoma	Substitution - coding silent
c.6342C>T; p.G2114G; 16:3728705-3728705	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4448T>G; p.I1483S; 16:3736762-3736762	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2677T>C; p.S893P; 16:3770773-3770773	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6213G>A; p.L2071L; 16:3728834-3728834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3367C>T; p.P1123S; 16:3758856-3758856	skin	malignant_melanoma	Substitution - Missense
c.4448T>G; p.I1483S; 16:3736762-3736762	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.236G>T; p.G79V; 16:3850859-3850859	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2014C>T; p.R672C; 16:3778110-3778110	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2677T>C; p.S893P; 16:3770773-3770773	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4499A>C; p.Q1500P; 16:3736711-3736711	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.4499A>C; p.Q1500P; 16:3736711-3736711	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.3299C>A; p.A1100E; 16:3758924-3758924	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7152C>A; p.H2384Q; 16:3727895-3727895	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4034T>G; p.F1345C; 16:3740498-3740498	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1123G>T; p.G375*; 16:3793479-3793479	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4448T>C; p.I1483T; 16:3736762-3736762	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.328G>T; p.A110S; 16:3850767-3850767	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4448T>C; p.I1483T; 16:3736762-3736762	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5140G>T; p.V1714L; 16:3731224-3731224	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.6324C>T; p.Y2108Y; 16:3728723-3728723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3370-4delT; p.?; 16:3758052-3758052	ovary	carcinoma; serous_carcinoma	Unknown
c.258A>T; p.I86I; 16:3850837-3850837	skin	malignant_melanoma	Substitution - coding silent
c.4561G>T; p.D1521Y; 16:3736203-3736203	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5282C>G; p.S1761*; 16:3729765-3729765	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.1460C>A; p.A487D; 16:3782797-3782797	liver	carcinoma	Substitution - Missense
c.2685delC; p.Q897fs*30; 16:3770765-3770765	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.4991G>T; p.R1664L; 16:3731373-3731373	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.5282C>G; p.S1761*; 16:3729765-3729765	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4887_4888delGG; p.E1630fs*29; 16:3731778-3731779	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1460C>A; p.A487D; 16:3782797-3782797	liver	carcinoma	Substitution - Missense
c.5356C>T; p.R1786C; 16:3729691-3729691	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1950T>G; p.Y650*; 16:3778174-3778174	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3512C>T; p.T1171I; 16:3757906-3757906	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3271C>T; p.R1091C; 16:3758952-3758952	breast	carcinoma	Substitution - Missense
c.3334C>T; p.R1112W; 16:3758889-3758889	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.3271C>T; p.R1091C; 16:3758952-3758952	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.567delC; p.N190fs*8; 16:3850528-3850528	ovary	carcinoma; clear_cell_carcinoma	Deletion - Frameshift
c.3044G>T; p.G1015V; 16:3769190-3769190	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5367C>A; p.N1789K; 16:3729680-3729680	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.4231G>A; p.G1411R; 16:3739627-3739627	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.4680_4682delAGA; p.E1562delE; 16:3736082-3736084	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.4231G>A; p.G1411R; 16:3739627-3739627	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6052C>T; p.P2018S; 16:3728995-3728995	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3737G>A; p.G1246D; 16:3751768-3751768	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6596A>T; p.Q2199L; 16:3728451-3728451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1854C>T; p.P618P; 16:3778787-3778787	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5660C>G; p.S1887*; 16:3729387-3729387	oesophagus	carcinoma	Substitution - Nonsense
c.4163C>T; p.S1388F; 16:3739695-3739695	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4401G>C; p.V1467V; 16:3736809-3736809	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.6596A>T; p.Q2199L; 16:3728451-3728451	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6596A>T; p.Q2199L; 16:3728451-3728451	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5660C>G; p.S1887*; 16:3729387-3729387	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Nonsense
c.4416G>T; p.W1472C; 16:3736794-3736794	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5660C>G; p.S1887*; 16:3729387-3729387	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Nonsense
c.1873C>T; p.R625C; 16:3778768-3778768	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2678C>A; p.S893*; 16:3770772-3770772	ovary	carcinoma	Substitution - Nonsense
c.2678C>A; p.S893*; 16:3770772-3770772	ovary	carcinoma	Substitution - Nonsense
c.1873C>T; p.R625C; 16:3778768-3778768	oesophagus	carcinoma	Substitution - Missense
c.321G>A; p.P107P; 16:3850774-3850774	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.321G>A; p.P107P; 16:3850774-3850774	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6933G>A; p.P2311P; 16:3728114-3728114	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1429G>A; p.D477N; 16:3782828-3782828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.508C>T; p.Q170*; 16:3850587-3850587	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.637C>T; p.L213F; 16:3850458-3850458	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2509_2515delGGGCCTC; p.G837fs*10; 16:3770935-3770941	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.7089G>A; p.P2363P; 16:3727958-3727958	large_intestine; colon	adenoma	Substitution - coding silent
c.7089G>A; p.P2363P; 16:3727958-3727958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4348T>G; p.Y1450D; 16:3738605-3738605	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2515C>T; p.Q839*; 16:3770935-3770935	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.2515C>T; p.Q839*; 16:3770935-3770935	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.6548C>T; p.A2183V; 16:3728499-3728499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2515C>T; p.Q839*; 16:3770935-3770935	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.6311G>C; p.R2104P; 16:3728736-3728736	skin	malignant_melanoma	Substitution - Missense
c.3874C>A; p.Q1292K; 16:3745317-3745317	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5451G>A; p.P1817P; 16:3729596-3729596	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4223G>A; p.C1408Y; 16:3739635-3739635	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3159T>C; p.P1053P; 16:3767811-3767811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6949C>A; p.Q2317K; 16:3728098-3728098	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.224G>T; p.R75L; 16:3850871-3850871	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.824C>A; p.P275Q; 16:3810754-3810754	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3712G>T; p.E1238*; 16:3751793-3751793	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.5219A>G; p.H1740R; 16:3729828-3729828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3697A>T; p.R1233W; 16:3757289-3757289	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.6215G>A; p.R2072Q; 16:3728832-3728832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4166T>C; p.F1389S; 16:3739692-3739692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4545C>G; p.I1515M; 16:3736665-3736665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5267A>G; p.Q1756R; 16:3729780-3729780	pancreas	carcinoma	Substitution - Missense
c.3775C>T; p.Q1259*; 16:3751730-3751730	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1447C>T; p.R483*; 16:3782810-3782810	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Nonsense
c.1447C>T; p.R483*; 16:3782810-3782810	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Nonsense
c.3301_3302ins41; p.L1101fs*12; 16:3758921-3758922	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Insertion - Frameshift
c.5895G>A; p.E1965E; 16:3729152-3729152	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3135A>G; p.P1045P; 16:3767835-3767835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6689A>G; p.Q2230R; 16:3728358-3728358	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2573C>T; p.P858L; 16:3770877-3770877	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4305T>A; p.D1435E; 16:3738648-3738648	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.569A>T; p.N190I; 16:3850526-3850526	skin	malignant_melanoma	Substitution - Missense
c.4232G>T; p.G1411V; 16:3739626-3739626	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4179C>G; p.T1393T; 16:3739679-3739679	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.4280+1G>T; p.?; 16:3739577-3739577	ovary	carcinoma; serous_carcinoma	Unknown
c.5670C>T; p.P1890P; 16:3729377-3729377	thyroid	other; neoplasm	Substitution - coding silent
c.7285G>A; p.D2429N; 16:3727762-3727762	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4305T>A; p.D1435E; 16:3738648-3738648	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.4507T>G; p.Y1503D; 16:3736703-3736703	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.868G>A; p.A290T; 16:3810710-3810710	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4507T>G; p.Y1503D; 16:3736703-3736703	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4492C>T; p.R1498*; 16:3736718-3736718	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6072G>A; p.A2024A; 16:3728975-3728975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4492C>T; p.R1498*; 16:3736718-3736718	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5514C>T; p.C1838C; 16:3729533-3729533	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4499A>G; p.Q1500R; 16:3736711-3736711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4900G>A; p.V1634M; 16:3731464-3731464	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4492C>T; p.R1498*; 16:3736718-3736718	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Nonsense
c.4507T>G; p.Y1503D; 16:3736703-3736703	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.4450T>G; p.F1484V; 16:3736760-3736760	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5475C>G; p.L1825L; 16:3729572-3729572	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1216G>C; p.V406L; 16:3793386-3793386	pancreas	carcinoma	Substitution - Missense
c.4337G>T; p.R1446L; 16:3738616-3738616	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.4337G>T; p.R1446L; 16:3738616-3738616	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4337G>T; p.R1446L; 16:3738616-3738616	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1216G>C; p.V406L; 16:3793386-3793386	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.4337G>T; p.R1446L; 16:3738616-3738616	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4132C>T; p.R1378W; 16:3740400-3740400	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3988C>G; p.Q1330E; 16:3740544-3740544	kidney	other; neoplasm	Substitution - Missense
c.5344G>A; p.A1782T; 16:3729703-3729703	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1157_1158insCATTGTCG; p.T387fs*5; 16:3793444-3793445	lung	carcinoma; mixed_small_cell_carcinoma-adenocarcinoma	Insertion - Frameshift
c.2080G>C; p.V694L; 16:3778044-3778044	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2510G>T; p.G837V; 16:3770940-3770940	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5344G>A; p.A1782T; 16:3729703-3729703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4349A>G; p.Y1450C; 16:3738604-3738604	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.4349A>G; p.Y1450C; 16:3738604-3738604	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.4349A>G; p.Y1450C; 16:3738604-3738604	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4556A>G; p.Y1519C; 16:3736654-3736654	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2708C>A; p.P903H; 16:3770742-3770742	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3837-8C>T; p.?; 16:3745362-3745362	stomach	carcinoma; adenocarcinoma	Unknown
c.4477delA; p.I1493fs*57; 16:3736733-3736733	ovary	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.4094C>G; p.S1365*; 16:3740438-3740438	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2278C>T; p.P760S; 16:3774574-3774574	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3575T>C; p.V1192A; 16:3757843-3757843	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2455G>A; p.V819M; 16:3773759-3773759	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3956G>A; p.R1319Q; 16:3744920-3744920	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1585A>G; p.M529V; 16:3781295-3781295	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4061C>T; p.A1354V; 16:3740471-3740471	ovary	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1846C>T; p.P616S; 16:3778795-3778795	skin	malignant_melanoma	Substitution - Missense
c.759C>T; p.H253H; 16:3850336-3850336	prostate	carcinoma	Substitution - coding silent
c.3546A>G; p.A1182A; 16:3757872-3757872	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2604T>A; p.S868S; 16:3770846-3770846	thyroid	other; neoplasm	Substitution - coding silent
c.3427G>C; p.D1143H; 16:3757991-3757991	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5932A>G; p.N1978D; 16:3729115-3729115	breast	carcinoma	Substitution - Missense
c.6983C>T; p.S2328L; 16:3728064-3728064	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.6983C>T; p.S2328L; 16:3728064-3728064	urinary_tract; bladder	carcinoma	Substitution - Missense
c.466C>A; p.Q156K; 16:3850629-3850629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6983C>T; p.S2328L; 16:3728064-3728064	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1201G>T; p.G401W; 16:3793401-3793401	skin	malignant_melanoma	Substitution - Missense
c.878T>C; p.V293A; 16:3810700-3810700	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5024A>G; p.H1675R; 16:3731340-3731340	pancreas	carcinoma	Substitution - Missense
c.2517G>T; p.Q839H; 16:3770933-3770933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4951G>A; p.D1651N; 16:3731413-3731413	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2608C>T; p.Q870*; 16:3770842-3770842	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.4648G>C; p.E1550Q; 16:3736116-3736116	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4451T>C; p.F1484S; 16:3736759-3736759	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.7302G>A; p.T2434T; 16:3727745-3727745	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4648G>C; p.E1550Q; 16:3736116-3736116	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4451T>C; p.F1484S; 16:3736759-3736759	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.6154C>T; p.R2052W; 16:3728893-3728893	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5660C>A; p.S1887*; 16:3729387-3729387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7318G>A; p.E2440K; 16:3727729-3727729	skin; arm	malignant_melanoma	Substitution - Missense
c.4874T>C; p.M1625T; 16:3731792-3731792	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4689G>A; p.R1563R; 16:3736075-3736075	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4094C>A; p.S1365*; 16:3740438-3740438	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.4874T>C; p.M1625T; 16:3731792-3731792	oesophagus	carcinoma	Substitution - Missense
c.4689G>A; p.R1563R; 16:3736075-3736075	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4307G>A; p.S1436N; 16:3738646-3738646	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2012C>T; p.S671L; 16:3778112-3778112	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4874T>C; p.M1625T; 16:3731792-3731792	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.408G>T; p.Q136H; 16:3850687-3850687	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4307G>A; p.S1436N; 16:3738646-3738646	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.5439C>T; p.N1813N; 16:3729608-3729608	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3361G>T; p.G1121*; 16:3758862-3758862	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3206G>A; p.G1069D; 16:3767764-3767764	skin	malignant_melanoma	Substitution - Missense
c.4414T>G; p.W1472G; 16:3736796-3736796	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.5234G>A; p.W1745*; 16:3729813-3729813	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Nonsense
c.3206G>A; p.G1069D; 16:3767764-3767764	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2064G>A; p.P688P; 16:3778060-3778060	skin	malignant_melanoma	Substitution - coding silent
c.6476A>T; p.Q2159L; 16:3728571-3728571	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3967A>T; p.K1323*; 16:3744909-3744909	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.4448T>A; p.I1483N; 16:3736762-3736762	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.5234G>A; p.W1745*; 16:3729813-3729813	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.6214C>T; p.R2072W; 16:3728833-3728833	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2064G>A; p.P688P; 16:3778060-3778060	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4448T>A; p.I1483N; 16:3736762-3736762	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5621C>T; p.T1874I; 16:3729426-3729426	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.5470G>A; p.A1824T; 16:3729577-3729577	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4463C>T; p.P1488L; 16:3736747-3736747	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.5470G>A; p.A1824T; 16:3729577-3729577	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4463C>T; p.P1488L; 16:3736747-3736747	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5470G>A; p.A1824T; 16:3729577-3729577	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4280+2T>C; p.?; 16:3739576-3739576	lung	carcinoma; small_cell_carcinoma	Unknown
c.3158C>T; p.P1053L; 16:3767812-3767812	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1100G>T; p.C367F; 16:3793502-3793502	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6424C>A; p.L2142M; 16:3728623-3728623	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6424C>A; p.L2142M; 16:3728623-3728623	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4317C>A; p.F1439L; 16:3738636-3738636	endometrium	carcinoma; endometrioid_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]