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

Basic Information

Gene ID

23035

Name

PHLPP2

Synonymous

PH domain and leucine rich repeat protein phosphatase 2;PHLPP2;PH domain and leucine rich repeat protein phosphatase 2

Definition

PH domain leucine-rich repeat-containing protein phosphatase 2

Position

16q22.2

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 0.13.

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.1112C>T; p.S371F; 16:71678911-71678911

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1028A>C; p.N343T; 16:71679398-71679398

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1180G>A; p.D394N; 16:71678843-71678843

skinmalignant_melanomaSubstitution - Missense

c.2744C>T; p.S915F; 16:71652863-71652863

skin; scalpmalignant_melanomaSubstitution - Missense

c.1833C>T; p.S611S; 16:71664051-71664051

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.736-1G>A; p.?; 16:71681906-71681906

skinmalignant_melanomaUnknown

c.280G>C; p.V94L; 16:71714516-71714516

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.305G>A; p.R102Q; 16:71702711-71702711

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1200A>G; p.G400G; 16:71678823-71678823

breastcarcinomaSubstitution - coding silent

c.3051G>A; p.A1017A; 16:71649811-71649811

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3540G>A; p.E1180E; 16:71649322-71649322

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2384G>T; p.R795I; 16:71656577-71656577

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3056G>A; p.S1019N; 16:71649806-71649806

breastcarcinomaSubstitution - Missense

c.192C>T; p.L64L; 16:71714604-71714604

skinmalignant_melanomaSubstitution - coding silent

c.3143C>T; p.T1048I; 16:71649719-71649719

skinmalignant_melanomaSubstitution - Missense

c.192C>T; p.L64L; 16:71714604-71714604

skinmalignant_melanomaSubstitution - coding silent

c.833A>G; p.N278S; 16:71681808-71681808

breastcarcinomaSubstitution - Missense

c.1925_1926delGG; p.G642fs*24; 16:71663958-71663959

breastcarcinomaDeletion - Frameshift

c.3047T>C; p.L1016S; 16:71649815-71649815

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3047T>C; p.L1016S; 16:71649815-71649815

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.145A>G; p.T49A; 16:71714651-71714651

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.876C>T; p.L292L; 16:71681765-71681765

skinmalignant_melanomaSubstitution - coding silent

c.2532G>A; p.Q844Q; 16:71655293-71655293

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1225G>A; p.G409R; 16:71678798-71678798

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2844C>T; p.C948C; 16:71650018-71650018

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1014A>C; p.P338P; 16:71679412-71679412

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.3777A>C; p.T1259T; 16:71649085-71649085

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.318C>T; p.I106I; 16:71702698-71702698

skinmalignant_melanomaSubstitution - coding silent

c.96T>G; p.C32W; 16:71714700-71714700

breastcarcinomaSubstitution - Missense

c.3002G>A; p.R1001H; 16:71649860-71649860

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3778G>T; p.E1260*; 16:71649084-71649084

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3535C>T; p.L1179L; 16:71649327-71649327

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.3778G>T; p.E1260*; 16:71649084-71649084

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3616C>T; p.R1206*; 16:71649246-71649246

pancreascarcinomaSubstitution - Nonsense

c.3727G>A; p.G1243S; 16:71649135-71649135

skinmalignant_melanomaSubstitution - Missense

c.2697C>T; p.G899G; 16:71652910-71652910

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1116C>T; p.S372S; 16:71678907-71678907

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3006C>T; p.H1002H; 16:71649856-71649856

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1116C>T; p.S372S; 16:71678907-71678907

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1442C>T; p.S481F; 16:71676476-71676476

skinmalignant_melanomaSubstitution - Missense

c.1442C>T; p.S481F; 16:71676476-71676476

skinmalignant_melanomaSubstitution - Missense

c.2852G>A; p.R951Q; 16:71650010-71650010

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.31A>C; p.N11H; 16:71714765-71714765

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.624G>C; p.K208N; 16:71684587-71684587

urinary_tract; bladdercarcinomaSubstitution - Missense

c.793C>T; p.P265S; 16:71681848-71681848

skinmalignant_melanomaSubstitution - Missense

c.838C>T; p.R280*; 16:71681803-71681803

skin; trunkmalignant_melanomaSubstitution - Nonsense

c.564T>C; p.D188D; 16:71690564-71690564

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1242G>A; p.M414I; 16:71678781-71678781

ovarycarcinoma; clear_cell_carcinomaSubstitution - Missense

c.2468G>A; p.R823Q; 16:71655357-71655357

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2576T>C; p.V859A; 16:71655249-71655249

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2576T>C; p.V859A; 16:71655249-71655249

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2486G>A; p.R829H; 16:71655339-71655339

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2858T>G; p.L953R; 16:71650004-71650004

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.439C>T; p.R147C; 16:71690689-71690689

skinmalignant_melanomaSubstitution - Missense

c.976G>A; p.E326K; 16:71679450-71679450

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.439C>T; p.R147C; 16:71690689-71690689

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2964G>T; p.W988C; 16:71649898-71649898

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3198_3199insC; p.A1068fs*6; 16:71649663-71649664

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaInsertion - Frameshift

c.3260C>T; p.S1087L; 16:71649602-71649602

skinmalignant_melanomaSubstitution - Missense

c.1918C>T; p.L640L; 16:71663966-71663966

skinmalignant_melanomaSubstitution - coding silent

c.2881T>G; p.W961G; 16:71649981-71649981

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3966A>T; p.A1322A; 16:71648896-71648896

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2555T>G; p.F852C; 16:71655270-71655270

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.315_316GA>TT; p.Q105_I106>HF; 16:71702700-71702701

ovarycarcinoma; serous_carcinomaComplex - compound substitution

c.1448_1449GG>AA; p.R483Q; 16:71676469-71676470

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3230C>A; p.A1077D; 16:71649632-71649632

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3318G>A; p.L1106L; 16:71649544-71649544

skinmalignant_melanomaSubstitution - coding silent

c.757A>T; p.T253S; 16:71681884-71681884

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1000T>C; p.F334L; 16:71679426-71679426

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2092G>A; p.A698T; 16:71658709-71658709

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1393C>T; p.L465L; 16:71676525-71676525

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1374C>T; p.S458S; 16:71676544-71676544

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1598G>A; p.S533N; 16:71669305-71669305

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3904C>T; p.R1302W; 16:71648958-71648958

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3196A>G; p.K1066E; 16:71649666-71649666

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.958G>A; p.E320K; 16:71679468-71679468

skinmalignant_melanomaSubstitution - Missense

c.919T>A; p.S307T; 16:71679507-71679507

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1330G>A; p.V444M; 16:71676588-71676588

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.648C>T; p.F216F; 16:71684563-71684563

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1392G>T; p.Q464H; 16:71676526-71676526

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1505G>T; p.S502I; 16:71672289-71672289

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1666G>T; p.G556*; 16:71667296-71667296

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2585G>T; p.R862M; 16:71655240-71655240

breastcarcinomaSubstitution - Missense

c.3485G>A; p.G1162D; 16:71649377-71649377

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2170G>T; p.D724Y; 16:71658342-71658342

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.20G>T; p.R7I; 16:71714776-71714776

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1531C>A; p.R511R; 16:71672263-71672263

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.1260G>T; p.V420V; 16:71678763-71678763

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.798G>A; p.E266E; 16:71681843-71681843

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1471A>T; p.R491W; 16:71676447-71676447

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1770C>G; p.F590L; 16:71667192-71667192

pancreascarcinomaSubstitution - Missense

c.960G>T; p.E320D; 16:71679466-71679466

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1532G>C; p.R511P; 16:71672262-71672262

skinmalignant_melanomaSubstitution - Missense

c.1433G>T; p.S478I; 16:71676485-71676485

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.479G>A; p.R160H; 16:71690649-71690649

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3447T>C; p.S1149S; 16:71649415-71649415

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1712C>T; p.P571L; 16:71667250-71667250

skinmalignant_melanomaSubstitution - Missense

c.3063C>A; p.G1021G; 16:71649799-71649799

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1509G>T; p.L503L; 16:71672285-71672285

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.3063C>A; p.G1021G; 16:71649799-71649799

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2479C>T; p.L827F; 16:71655346-71655346

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1127C>T; p.S376F; 16:71678896-71678896

breastcarcinomaSubstitution - Missense

c.2928A>C; p.Q976H; 16:71649934-71649934

livercarcinomaSubstitution - Missense

c.2079G>A; p.L693L; 16:71658722-71658722

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2928A>C; p.Q976H; 16:71649934-71649934

livercarcinomaSubstitution - Missense

c.3946_3947CC>GT; p.P1316V; 16:71648915-71648916

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2815G>T; p.E939*; 16:71652792-71652792

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2117T>C; p.F706S; 16:71658684-71658684

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3915T>C; p.P1305P; 16:71648947-71648947

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2426C>T; p.A809V; 16:71655399-71655399

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2467C>T; p.R823*; 16:71655358-71655358

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3198G>C; p.K1066N; 16:71649664-71649664

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2585+1G>T; p.?; 16:71655239-71655239

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1224A>C; p.L408F; 16:71678799-71678799

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1174A>G; p.M392V; 16:71678849-71678849

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1623C>T; p.P541P; 16:71669280-71669280

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1623C>T; p.P541P; 16:71669280-71669280

pancreascarcinomaSubstitution - coding silent

c.1648C>T; p.L550F; 16:71667314-71667314

breastcarcinomaSubstitution - Missense

c.2942T>A; p.I981N; 16:71649920-71649920

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3462C>T; p.P1154P; 16:71649400-71649400

skinmalignant_melanomaSubstitution - coding silent

c.1265T>G; p.L422*; 16:71678758-71678758

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.3964G>T; p.A1322S; 16:71648898-71648898

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3692C>T; p.S1231F; 16:71649170-71649170

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1772C>T; p.S591F; 16:71667190-71667190

skinmalignant_melanomaSubstitution - Missense

c.639C>T; p.S213S; 16:71684572-71684572

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1261G>A; p.D421N; 16:71678762-71678762

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3156T>C; p.P1052P; 16:71649706-71649706

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1140T>C; p.F380F; 16:71678883-71678883

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3762C>T; p.L1254L; 16:71649100-71649100

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1140T>C; p.F380F; 16:71678883-71678883

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2752T>G; p.F918V; 16:71652855-71652855

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2912C>G; p.T971S; 16:71649950-71649950

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2443G>T; p.V815L; 16:71655382-71655382

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2493G>A; p.L831L; 16:71655332-71655332

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2751C>A; p.V917V; 16:71652856-71652856

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.64G>A; p.D22N; 16:71714732-71714732

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3378_3399del22; p.G1127fs*26; 16:71649463-71649484

skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.679C>T; p.H227Y; 16:71684532-71684532

NSmalignant_melanomaSubstitution - Missense

c.679C>T; p.H227Y; 16:71684532-71684532

NSmalignant_melanomaSubstitution - Missense

c.1115C>A; p.S372Y; 16:71678908-71678908

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.547G>A; p.V183I; 16:71690581-71690581

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.514C>T; p.R172C; 16:71690614-71690614

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2914C>T; p.P972S; 16:71649948-71649948

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.629G>T; p.R210L; 16:71684582-71684582

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.3199_3200delCC; p.P1067fs*6; 16:71649662-71649663

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.2501C>T; p.T834M; 16:71655324-71655324

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3868G>C; p.E1290Q; 16:71648994-71648994

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2284A>G; p.I762V; 16:71656677-71656677

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.478C>T; p.R160C; 16:71690650-71690650

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2836G>T; p.V946L; 16:71650026-71650026

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2343A>G; p.S781S; 16:71656618-71656618

skinmalignant_melanomaSubstitution - coding silent

c.3200_3201insC; p.A1068fs*6; 16:71649661-71649662

breastcarcinomaInsertion - Frameshift

c.223G>T; p.E75*; 16:71714573-71714573

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1448G>A; p.R483Q; 16:71676470-71676470

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3197A>T; p.K1066M; 16:71649665-71649665

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2618C>T; p.S873F; 16:71652989-71652989

skinmalignant_melanomaSubstitution - Missense

c.1010T>C; p.L337P; 16:71679416-71679416

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.158C>T; p.S53F; 16:71714638-71714638

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3339G>A; p.R1113R; 16:71649523-71649523

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.690C>T; p.F230F; 16:71684521-71684521

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2485C>T; p.R829C; 16:71655340-71655340

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.3108T>C; p.G1036G; 16:71649754-71649754

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3561G>A; p.E1187E; 16:71649301-71649301

skinmalignant_melanomaSubstitution - coding silent

c.3460C>A; p.P1154T; 16:71649402-71649402

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2053A>G; p.T685A; 16:71658748-71658748

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3529A>G; p.R1177G; 16:71649333-71649333

thyroidcarcinomaSubstitution - Missense

c.572C>G; p.T191S; 16:71690556-71690556

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2119C>A; p.P707T; 16:71658682-71658682

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.274G>C; p.D92H; 16:71714522-71714522

breastcarcinomaSubstitution - Missense

c.3335C>T; p.P1112L; 16:71649527-71649527

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.38G>A; p.R13K; 16:71714758-71714758

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3940G>A; p.E1314K; 16:71648922-71648922

breastcarcinomaSubstitution - Missense

c.1532G>T; p.R511L; 16:71672262-71672262

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.3969A>G; p.L1323L; 16:71648893-71648893

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3969A>G; p.L1323L; 16:71648893-71648893

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2377G>T; p.G793W; 16:71656584-71656584

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3505G>A; p.V1169I; 16:71649357-71649357

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2660C>A; p.P887Q; 16:71652947-71652947

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2024T>C; p.L675P; 16:71658777-71658777

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3566C>A; p.S1189Y; 16:71649296-71649296

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3566C>A; p.S1189Y; 16:71649296-71649296

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.193G>A; p.V65I; 16:71714603-71714603

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3217A>G; p.S1073G; 16:71649645-71649645

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2677T>C; p.L893L; 16:71652930-71652930

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3617G>A; p.R1206Q; 16:71649245-71649245

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2155G>A; p.D719N; 16:71658357-71658357

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1527C>G; p.L509L; 16:71672267-71672267

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3083C>T; p.A1028V; 16:71649779-71649779

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3083C>T; p.A1028V; 16:71649779-71649779

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1527C>G; p.L509L; 16:71672267-71672267

upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.1577A>C; p.K526T; 16:71669326-71669326

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1577A>C; p.K526T; 16:71669326-71669326

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.609G>T; p.K203N; 16:71690519-71690519

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.666_667insA; p.A223fs*44; 16:71684544-71684545

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.3957C>T; p.F1319F; 16:71648905-71648905

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3223G>A; p.G1075R; 16:71649639-71649639

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1991T>C; p.L664P; 16:71658810-71658810

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1087G>T; p.E363*; 16:71678936-71678936

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1184G>A; p.R395K; 16:71678839-71678839

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3160G>T; p.G1054*; 16:71649702-71649702

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.304C>T; p.R102*; 16:71702712-71702712

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3683A>G; p.K1228R; 16:71649179-71649179

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1271T>C; p.M424T; 16:71676647-71676647

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2434G>A; p.V812M; 16:71655391-71655391

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1028A>G; p.N343S; 16:71679398-71679398

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.558G>T; p.V186V; 16:71690570-71690570

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1461C>T; p.A487A; 16:71676457-71676457

skinmalignant_melanomaSubstitution - coding silent

c.2454G>T; p.M818I; 16:71655371-71655371

livercarcinomaSubstitution - Missense

c.2606A>G; p.Q869R; 16:71653001-71653001

pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.789G>C; p.E263D; 16:71681852-71681852

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1734G>T; p.Q578H; 16:71667228-71667228

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1359C>T; p.D453D; 16:71676559-71676559

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1359C>T; p.D453D; 16:71676559-71676559

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1359C>T; p.D453D; 16:71676559-71676559

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3282_3283insG; p.S1095fs*5; 16:71649579-71649580

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.754A>C; p.S252R; 16:71681887-71681887

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.783C>T; p.L261L; 16:71681858-71681858

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.754A>C; p.S252R; 16:71681887-71681887

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3055A>G; p.S1019G; 16:71649807-71649807

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.3055A>G; p.S1019G; 16:71649807-71649807

pancreascarcinomaSubstitution - Missense

c.1716C>G; p.L572L; 16:71667246-71667246

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.534T>C; p.G178G; 16:71690594-71690594

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent


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