Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

8864

Name

PER2

Synonymous

period circadian clock 2;PER2;period circadian clock 2

Definition

circadian clock protein PERIOD 2|hPER2|period 2|period circadian protein 2|period circadian protein homolog 2|period homolog 2

Position

2q37.3

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

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

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

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.01.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 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; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.934C>T; p.L312L; 2:238268089-238268089

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3505C>T; p.L1169L; 2:238249175-238249175

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3686C>T; p.S1229F; 2:238246457-238246457

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.400A>G; p.T134A; 2:238275791-238275791

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1993T>C; p.S665P; 2:238256994-238256994

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1993T>C; p.S665P; 2:238256994-238256994

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1894G>T; p.A632S; 2:238258282-238258282

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3601G>A; p.A1201T; 2:238249079-238249079

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1093C>T; p.P365S; 2:238263012-238263012

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2838G>C; p.Q946H; 2:238253185-238253185

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.282A>G; p.T94T; 2:238277142-238277142

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2455G>A; p.A819T; 2:238253568-238253568

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1192A>G; p.I398V; 2:238262306-238262306

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2861C>T; p.S954L; 2:238253162-238253162

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3451T>C; p.Y1151H; 2:238250567-238250567

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2347G>A; p.G783R; 2:238253676-238253676

breastcarcinomaSubstitution - Missense

c.3059C>T; p.A1020V; 2:238252964-238252964

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2047A>C; p.K683Q; 2:238256940-238256940

kidneyother; neoplasmSubstitution - Missense

c.578T>C; p.F193S; 2:238271506-238271506

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.569C>T; p.A190V; 2:238273071-238273071

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3584A>G; p.Q1195R; 2:238249096-238249096

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3449C>T; p.T1150M; 2:238250569-238250569

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.256G>A; p.A86T; 2:238277168-238277168

central_nervous_system; braingliomaSubstitution - Missense

c.2776C>T; p.P926S; 2:238253247-238253247

skinmalignant_melanomaSubstitution - Missense

c.621C>T; p.I207I; 2:238271463-238271463

skinmalignant_melanomaSubstitution - coding silent

c.3562C>T; p.R1188C; 2:238249118-238249118

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3562C>T; p.R1188C; 2:238249118-238249118

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3733T>A; p.S1245T; 2:238246410-238246410

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.33C>T; p.P11P; 2:238277904-238277904

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1540G>T; p.A514S; 2:238260830-238260830

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2464C>T; p.P822S; 2:238253559-238253559

skinmalignant_melanomaSubstitution - Missense

c.2464C>T; p.P822S; 2:238253559-238253559

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1944T>C; p.G648G; 2:238257043-238257043

breastcarcinomaSubstitution - coding silent

c.1474G>A; p.E492K; 2:238260896-238260896

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.564G>A; p.K188K; 2:238273076-238273076

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2252T>C; p.L751P; 2:238255725-238255725

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3731G>A; p.G1244E; 2:238246412-238246412

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.798G>A; p.E266E; 2:238268949-238268949

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.895C>T; p.R299W; 2:238268128-238268128

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.542T>A; p.V181D; 2:238273098-238273098

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2114C>T; p.A705V; 2:238255863-238255863

breastcarcinomaSubstitution - Missense

c.1204G>T; p.A402S; 2:238262294-238262294

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.709G>A; p.G237S; 2:238271375-238271375

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.13G>A; p.A5T; 2:238277924-238277924

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.13G>A; p.A5T; 2:238277924-238277924

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.3464C>T; p.S1155F; 2:238250554-238250554

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2139C>T; p.L713L; 2:238255838-238255838

breastcarcinomaSubstitution - coding silent

c.735G>A; p.P245P; 2:238271349-238271349

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2816C>T; p.S939F; 2:238253207-238253207

skinmalignant_melanomaSubstitution - Missense

c.2269C>T; p.H757Y; 2:238255708-238255708

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1992G>A; p.A664A; 2:238256995-238256995

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1992G>A; p.A664A; 2:238256995-238256995

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1992G>A; p.A664A; 2:238256995-238256995

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1175C>G; p.P392R; 2:238262323-238262323

pancreascarcinomaSubstitution - Missense

c.3102G>A; p.A1034A; 2:238252921-238252921

breastcarcinomaSubstitution - coding silent

c.3145G>A; p.A1049T; 2:238251728-238251728

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3145G>A; p.A1049T; 2:238251728-238251728

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2116G>T; p.G706C; 2:238255861-238255861

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1864C>T; p.R622W; 2:238258312-238258312

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.107G>A; p.S36N; 2:238277830-238277830

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1703C>T; p.P568L; 2:238258569-238258569

skinmalignant_melanomaSubstitution - Missense

c.2048A>C; p.K683T; 2:238256939-238256939

kidneyother; neoplasmSubstitution - Missense

c.2564C>T; p.S855L; 2:238253459-238253459

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1258C>T; p.P420S; 2:238262240-238262240

breastcarcinomaSubstitution - Missense

c.55G>A; p.V19M; 2:238277882-238277882

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.770C>T; p.A257V; 2:238271314-238271314

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3253G>A; p.D1085N; 2:238251620-238251620

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.3403C>T; p.P1135S; 2:238250615-238250615

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.487G>A; p.G163S; 2:238273153-238273153

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2857A>C; p.T953P; 2:238253166-238253166

urinary_tract; bladdercarcinomaSubstitution - Missense

c.989delA; p.K330fs*32; 2:238265569-238265569

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2433C>T; p.T811T; 2:238253590-238253590

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.383C>A; p.A128D; 2:238275808-238275808

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2433C>T; p.T811T; 2:238253590-238253590

upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.2433C>T; p.T811T; 2:238253590-238253590

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1757G>T; p.C586F; 2:238258515-238258515

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.308C>T; p.S103L; 2:238275883-238275883

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.22C>T; p.P8S; 2:238277915-238277915

skinmalignant_melanomaSubstitution - Missense

c.932T>G; p.L311R; 2:238268091-238268091

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1196G>A; p.R399Q; 2:238262302-238262302

pancreascarcinomaSubstitution - Missense

c.2467C>G; p.L823V; 2:238253556-238253556

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1173G>T; p.Q391H; 2:238262325-238262325

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2961G>A; p.S987S; 2:238253062-238253062

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.638C>T; p.S213F; 2:238271446-238271446

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2522G>A; p.C841Y; 2:238253501-238253501

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2115G>A; p.A705A; 2:238255862-238255862

prostatecarcinomaSubstitution - coding silent

c.80C>A; p.P27Q; 2:238277857-238277857

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2951G>A; p.R984H; 2:238253072-238253072

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.122A>G; p.H41R; 2:238277815-238277815

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.105C>T; p.S35S; 2:238277832-238277832

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2935C>A; p.P979T; 2:238253088-238253088

lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2849C>T; p.P950L; 2:238253174-238253174

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3382A>G; p.I1128V; 2:238250636-238250636

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1611G>T; p.K537N; 2:238259985-238259985

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1844C>T; p.A615V; 2:238258332-238258332

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1429A>T; p.S477C; 2:238260941-238260941

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2327C>A; p.P776H; 2:238253696-238253696

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1425C>T; p.P475P; 2:238260945-238260945

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.668G>A; p.S223N; 2:238271416-238271416

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1562A>G; p.N521S; 2:238260034-238260034

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2826C>A; p.A942A; 2:238253197-238253197

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1562A>G; p.N521S; 2:238260034-238260034

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3648delA; p.G1217fs*31; 2:238246495-238246495

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.932T>C; p.L311P; 2:238268091-238268091

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.61C>A; p.P21T; 2:238277876-238277876

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2469G>A; p.L823L; 2:238253554-238253554

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2469G>A; p.L823L; 2:238253554-238253554

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2469G>A; p.L823L; 2:238253554-238253554

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1102G>A; p.V368M; 2:238263003-238263003

breastcarcinomaSubstitution - Missense

c.3765G>A; p.T1255T; 2:238246378-238246378

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3670G>A; p.E1224K; 2:238246473-238246473

breastcarcinomaSubstitution - Missense

c.2317C>T; p.R773*; 2:238255660-238255660

breastcarcinomaSubstitution - Nonsense

c.1946C>G; p.T649R; 2:238257041-238257041

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.548C>T; p.S183F; 2:238273092-238273092

skinmalignant_melanomaSubstitution - Missense

c.891G>A; p.K297K; 2:238268132-238268132

skinmalignant_melanomaSubstitution - coding silent

c.2806A>G; p.T936A; 2:238253217-238253217

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.505G>C; p.D169H; 2:238273135-238273135

breastcarcinomaSubstitution - Missense

c.2964C>T; p.P988P; 2:238253059-238253059

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3108G>C; p.L1036L; 2:238252915-238252915

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.535G>A; p.E179K; 2:238273105-238273105

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1541C>T; p.A514V; 2:238260829-238260829

skinmalignant_melanomaSubstitution - Missense

c.2327C>T; p.P776L; 2:238253696-238253696

skinmalignant_melanomaSubstitution - Missense

c.3187G>T; p.E1063*; 2:238251686-238251686

prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.3408C>A; p.I1136I; 2:238250610-238250610

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2638G>A; p.A880T; 2:238253385-238253385

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3537C>G; p.F1179L; 2:238249143-238249143

peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.817C>T; p.R273C; 2:238268930-238268930

bone; pelvischondrosarcomaSubstitution - Missense

c.582G>A; p.A194A; 2:238271502-238271502

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1519G>A; p.E507K; 2:238260851-238260851

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3237C>T; p.S1079S; 2:238251636-238251636

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.703G>A; p.D235N; 2:238271381-238271381

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2028C>T; p.I676I; 2:238256959-238256959

skinmalignant_melanomaSubstitution - coding silent

c.3272C>T; p.A1091V; 2:238251601-238251601

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2346C>T; p.S782S; 2:238253677-238253677

breastcarcinomaSubstitution - coding silent

c.306T>G; p.S102S; 2:238275885-238275885

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1201C>T; p.R401C; 2:238262297-238262297

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1821C>T; p.C607C; 2:238258355-238258355

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1306G>A; p.V436M; 2:238262192-238262192

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3264G>A; p.P1088P; 2:238251609-238251609

NSNSSubstitution - coding silent

c.3452A>G; p.Y1151C; 2:238250566-238250566

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3046G>A; p.A1016T; 2:238252977-238252977

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2320+6T>C; p.?; 2:238255651-238255651

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaUnknown

c.84G>A; p.L28L; 2:238277853-238277853

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2100C>T; p.S700S; 2:238255877-238255877

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2866C>T; p.P956S; 2:238253157-238253157

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.12C>T; p.Y4Y; 2:238277925-238277925

livercarcinomaSubstitution - coding silent

c.2688C>T; p.F896F; 2:238253335-238253335

skinmalignant_melanomaSubstitution - coding silent

c.3204C>T; p.A1068A; 2:238251669-238251669

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2741C>T; p.P914L; 2:238253282-238253282

skinmalignant_melanomaSubstitution - Missense

c.1256A>G; p.N419S; 2:238262242-238262242

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3681T>A; p.I1227I; 2:238246462-238246462

skinmalignant_melanomaSubstitution - coding silent

c.2307G>A; p.Q769Q; 2:238255670-238255670

skinmalignant_melanomaSubstitution - coding silent

c.1075C>T; p.Q359*; 2:238263030-238263030

skinmalignant_melanomaSubstitution - Nonsense

c.746C>T; p.P249L; 2:238271338-238271338

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2735C>T; p.S912F; 2:238253288-238253288

skinmalignant_melanomaSubstitution - Missense

c.746C>T; p.P249L; 2:238271338-238271338

skinmalignant_melanomaSubstitution - Missense

c.2748G>A; p.G916G; 2:238253275-238253275

skinmalignant_melanomaSubstitution - coding silent

c.2735C>T; p.S912F; 2:238253288-238253288

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.328G>A; p.E110K; 2:238275863-238275863

skinmalignant_melanomaSubstitution - Missense

c.2852G>A; p.S951N; 2:238253171-238253171

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3306T>A; p.Y1102*; 2:238250712-238250712

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.426C>T; p.L142L; 2:238275765-238275765

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3093G>A; p.Q1031Q; 2:238252930-238252930

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.116G>A; p.S39N; 2:238277821-238277821

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.116G>A; p.S39N; 2:238277821-238277821

large_intestine; coloncarcinomaSubstitution - Missense

c.248T>C; p.L83P; 2:238277176-238277176

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1627+1G>T; p.?; 2:238259968-238259968

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaUnknown

c.2644C>T; p.P882S; 2:238253379-238253379

livercarcinomaSubstitution - Missense

c.2644C>T; p.P882S; 2:238253379-238253379

livercarcinomaSubstitution - Missense

c.2448C>T; p.P816P; 2:238253575-238253575

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.214_215CC>TT; p.P72L; 2:238277722-238277723

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.801G>T; p.E267D; 2:238268946-238268946

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.152G>C; p.R51P; 2:238277785-238277785

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1935G>T; p.T645T; 2:238257052-238257052

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.151C>T; p.R51W; 2:238277786-238277786

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2413C>T; p.R805*; 2:238253610-238253610

skinmalignant_melanomaSubstitution - Nonsense

c.3275-1G>T; p.?; 2:238250744-238250744

livercarcinoma; hepatocellular_carcinomaUnknown

c.1501A>T; p.S501C; 2:238260869-238260869

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3357T>A; p.T1119T; 2:238250661-238250661

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2914G>T; p.A972S; 2:238253109-238253109

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1494C>T; p.T498T; 2:238260876-238260876

skinmalignant_melanomaSubstitution - coding silent

c.2740C>T; p.P914S; 2:238253283-238253283

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.216G>A; p.P72P; 2:238277721-238277721

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.2278T>C; p.Y760H; 2:238255699-238255699

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.178G>A; p.D60N; 2:238277759-238277759

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.354G>A; p.L118L; 2:238275837-238275837

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2689C>T; p.P897S; 2:238253334-238253334

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2998C>T; p.P1000S; 2:238253025-238253025

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1958C>T; p.S653L; 2:238257029-238257029

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1934C>T; p.T645M; 2:238257053-238257053

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1768G>A; p.V590I; 2:238258504-238258504

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1768G>A; p.V590I; 2:238258504-238258504

stomachadenocarcinomaSubstitution - Missense

c.1447G>A; p.G483R; 2:238260923-238260923

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3140G>C; p.S1047T; 2:238251733-238251733

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.3496A>G; p.R1166G; 2:238249184-238249184

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.3592_3593GG>TT; p.G1198F; 2:238249087-238249088

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3144C>T; p.D1048D; 2:238251729-238251729

stomachadenocarcinomaSubstitution - coding silent

c.570+1G>A; p.?; 2:238273069-238273069

breastcarcinomaUnknown

c.3496A>G; p.R1166G; 2:238249184-238249184

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3140G>C; p.S1047T; 2:238251733-238251733

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2818G>C; p.E940Q; 2:238253205-238253205

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.215C>T; p.P72L; 2:238277722-238277722

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1168G>A; p.G390R; 2:238262330-238262330

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1972G>A; p.G658S; 2:238257015-238257015

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.776C>A; p.S259Y; 2:238268971-238268971

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1658A>G; p.K553R; 2:238258614-238258614

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.177C>T; p.D59D; 2:238277760-238277760

stomachadenocarcinomaSubstitution - coding silent

c.1705G>A; p.E569K; 2:238258567-238258567

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3163G>A; p.G1055S; 2:238251710-238251710

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1254C>T; p.I418I; 2:238262244-238262244

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2612C>T; p.P871L; 2:238253411-238253411

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2831C>T; p.A944V; 2:238253192-238253192

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense


')