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General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

5079

Name

PAX5

Synonymous

BSAP;paired box 5;PAX5;paired box 5

Definition

B cell specific activator protein|B-cell lineage specific activator|B-cell-specific transcription factor|paired box homeotic gene 5|paired box protein Pax-5|transcription factor PAX 5

Position

9p13

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for PAX5

PCGP somatic mutation   [Top]

Variant (Variant; Chr; Position)

Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)

Disease (CancerType; ValidationStatus; SequencingType)

PAX5_V26G; chr9; 37020768

 SUB; MISSENSE; A; A/C; SOMATICHYPO; VALID; WGS

PAX5_Q350fs; chr9; 36846891

 IFRAMESHIFT; -ACT; -ACT/CGGAC; SOMATICHYPO; VALID; TARGETED_SEQUENCING

PAX5_V26G; chr9; 37020768

 SUB; MISSENSE; A; A/C; SOMATICHYPO; VALID; TARGETED_SEQUENCING

PAX5_P80R; chr9; 37015165

 SUB; MISSENSE; G; C/C; SOMATICHYPO; VALID; TARGETED_SEQUENCING

PAX5_P80R; chr9; 37015165

 SUB; MISSENSE; G; C/C; SOMATICHYPO; VALID; TARGETED_SEQUENCING

PAX5_G338W; chr9; 36846927

 SUB; MISSENSE; C; C/A; SOMATICHYPO; VALID; TARGETED_SEQUENCING

PAX5_V26G; chr9; 37020768

 SUB; MISSENSE; A; A/C; SOMATICHYPO; VALID; TARGETED_SEQUENCING

PAX5_P80R; chr9; 37015165

 SUB; MISSENSE; G; C/C; SOMATICHYPO; VALID; TARGETED_SEQUENCING

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.77T>G; p.V26G; 9:37010768-37010768

 livercarcinoma; hepatocellular_carcinoma

c.1063A>C; p.N355H;

lungcarcinoma; squamous_cell_carcinoma

c.940G>T; p.G314W;

lungcarcinoma; squamous_cell_carcinoma

c.959C>T; p.P320L;

lungcarcinoma; squamous_cell_carcinoma

c.47-?_604+?del; p.?; 9:36992645-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.963_964insC; p.A322fs*19; 9:36872049-36872050

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.605-?_1012+?del; p.?; 9:36872001-36956721

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.605-?_910+?del; p.?; 9:36913352-36956721

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_910+?del; p.?; 9:36913352-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_780+?del; p.?; 9:36956546-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_410+?del; p.?; 9:37004994-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_1012+?del; p.?; 9:36872001-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.1-?_46del; p.?; 9:37023983-37024028

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.1-?_780+?del; p.?; 9:36956546-37024028

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_604+?del; p.?; 9:36992645-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_780+?del; p.?; 9:36956546-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.1-?_1012+?del; p.?; 9:36872001-37024028

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_780+?del; p.?; 9:36956546-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_780+?del; p.?; 9:36956546-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_1012+?del; p.?; 9:36872001-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_1012+?del; p.?; 9:36872001-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.963_964insC; p.A322fs*19; 9:36872049-36872050

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_780+?del; p.?; 9:36956546-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_780+?del; p.?; 9:36956546-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.77T>G; p.V26G; 9:37010768-37010768

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.377_388>GGG; p.N126_P130>RA; 9:37005016-37005027

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_1176+?del; p.?; 9:36830557-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.605-?_1012+?del; p.?; 9:36872001-36956721

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.77T>G; p.V26G; 9:37010768-37010768

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_1012+?del; p.?; 9:36872001-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.781-?_1176+?del; p.?; 9:36830557-36913481

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.1012G>T; p.G338W; 9:36872001-36872001

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.77T>G; p.V26G; 9:37010768-37010768

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.101C>A; p.P34Q; 9:37010744-37010744

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_410+?del; p.?; 9:37004994-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.911-?_1012+?del; p.?; 9:36872001-36872102

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.631_631G>TGTCACTAC; p.G211fs*70; 9:36956695-36956695

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.1019_1020insCCCGGGGG; p.E340fs*56; 9:36836919-36836920

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_780+?del; p.?; 9:36956546-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_780+?del; p.?; 9:36956546-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_780+?del; p.?; 9:36956546-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.1-?_780+?del; p.?; 9:36956546-37024028

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.1-?_780+?del; p.?; 9:36956546-37024028

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.?; p.P80R;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_780+?del; p.?; 9:36956546-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.?; p.P80R;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.?; p.P80R;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.412_413insG; p.I138fs*105; 9:36996532-36996533

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_780+?del; p.?; 9:36956546-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.?; p.P80R;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_780+?del; p.?; 9:36956546-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_1012+?del; p.?; 9:36872001-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_1012+?del; p.?; 9:36872001-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.411-?_604+?del; p.?; 9:36992645-36996534

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.411-?_604+?del; p.?; 9:36992645-36996534

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.?; p.P80R;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.476-?_1099+?del; p.?; 9:36836840-36992773

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.781-?_1099+?del; p.?; 9:36836840-36913481

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_780+?del; p.?; 9:36956546-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.577_578ins15; p.D193>GGTRAN; 9:36992671-36992672

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.?; p.P215L;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphoma

c.?; p.T331M;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphoma

c.365G>A; p.R122Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.110T>C; p.V37A;

large_intestine; coloncarcinoma; adenocarcinoma

c.19T>C; p.Y7H;

large_intestine; coloncarcinoma; adenocarcinoma

c.88G>T; p.G30*;

NSNS

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.1-?_1176+?del; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.213-?_1176+?del; p.?; 9:37004228-37005191

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_604+?del; p.?; 9:36992645-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.605-?_1176+?del; p.?; 9:36830557-36956721

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.1-?_910+?del; p.?; 9:36956546-37024028

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_604+?del; p.?; 9:36992645-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.?; p.V151I;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.451G>A; p.V151I;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.605-?_780+?del; p.?; 9:36956546-36956721

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.?; p.G24R;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.70G>C; p.G24R;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_410+?del; p.?; 9:37004994-37024028

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.781-?_1176+?del; p.?; 9:36830557-36913481

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.?; p.G24R;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.70G>C; p.G24R;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1013-?_1099+?del; p.?; 9:36836840-36836926

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.781-?_1176+?del; p.?; 9:36830557-36913481

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.?; p.D53V;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.410+2T>G; p.?;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.158A>T; p.D53V;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.605-?_1176+?del; p.?; 9:36830557-36956721

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.?; p.I139T;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.416T>C; p.I139T;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_604+?del; p.?; 9:36992645-37024028

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.605-?_780+?del; p.?; 9:36956546-36956721

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_475+?del; p.?; 9:36996470-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_604+?del; p.?; 9:36992645-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.47-?_1012+?del; p.?; 9:36872001-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.?; p.I301T;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.902T>C; p.I301T;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.47-?_780+?del; p.?; 9:36956546-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.1-?_410+?del; p.?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.1-?_910+?del; p.?; 9:36956546-37024028

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.?; p.T333fs*?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.997delA; p.T333fs*>59;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.605-?_1012+?del; p.?; 9:36872001-36956721

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.?; p.E201fs*?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.600_601insTTGGGCGTCG; p.E201fs*45;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.?; p.S213L;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.1-?_910+?del; p.?; 9:36956546-37024028

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.?; p.R59G;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.911-?_1099+?del; p.?; 9:36836840-36872102

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.175C>G; p.R59G;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.?; p.T75R;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.?; p.V336fs*?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.1006_1007insCTTATGGT; p.V336fs*>59;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.224C>G; p.T75R;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.47-?_604+?del; p.?; 9:36992645-37010798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.605-?_910+?del; p.?; 9:36913352-36956721

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.?; p.E201fs*?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.601_602insGAAGGGGG; p.E201fs*80;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.910+2T>C; p.?;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1-?_1-?del; p.?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.1013-20_1014del22; p.?;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1013-1G>A; p.?;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.?; p.V319fs*?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.955_956insC; p.V319fs*22;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.239C>G; p.P80R; 9:37005165-37005165

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.?; p.V319fs*?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.955_956insC; p.V319fs*22;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.605-?_1176+?del; p.?; 9:36830557-36956721

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.577G>A; p.D193N;

oesophaguscarcinoma; adenocarcinoma

c.1088C>T; p.P363L;

oesophagus; lower_thirdcarcinoma; adenocarcinoma

c.590G>A; p.R197H;

lungcarcinoma; small_cell_carcinoma

c.674G>A; p.R225Q;

lungcarcinoma; adenocarcinoma

c.350G>T; p.R117L;

lungcarcinoma; adenocarcinoma

c.899C>A; p.P300H;

lungcarcinoma; adenocarcinoma

c.1059G>A; p.S353S;

lungcarcinoma; adenocarcinoma

c.867C>T; p.I289I;

lungcarcinoma; adenocarcinoma

c.936_937CC>TT; p.L312>?;

skin; extremitymalignant_melanoma

c.679G>A; p.D227N;

autonomic_ganglianeuroblastoma

c.963delC; p.A322fs*11;

pancreascarcinoma; ductal_carcinoma

c.70G>C; p.G24R;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.396C>A; p.V132V;

NSNS

c.963_964insC; p.A322fs*19; 9:36872049-36872050

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia

c.887C>T; p.P296L;

autonomic_ganglianeuroblastoma

c.924G>T; p.A308A;

lungcarcinoma; adenocarcinoma

c.76_77insC; p.V26fs*49; 9:37010768-37010769

 central_nervous_system; brainglioma; astrocytoma_Grade_IV

c.1037A>G; p.Y346C; 9:36836902-36836902

 central_nervous_system; brainglioma; astrocytoma_Grade_IV

c.471C>G; p.S157R;

ovarycarcinoma; serous_carcinoma

c.870G>T; p.G290G;

lungcarcinoma; squamous_cell_carcinoma

c.1063A>T; p.N355Y;

lungcarcinoma; squamous_cell_carcinoma

c.627G>A; p.P209P;

lungcarcinoma; adenocarcinoma

c.950C>A; p.P317Q;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.952C>A; p.H318N;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.669G>T; p.Q223H;

lungcarcinoma; adenocarcinoma

c.68T>C; p.L23P;

lungcarcinoma; squamous_cell_carcinoma

c.1057T>A; p.S353T;

lungcarcinoma; squamous_cell_carcinoma

c.338A>T; p.E113V;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.939C>T; p.P313P;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.730C>T; p.Q244*;

large_intestine; coloncarcinoma; adenocarcinoma

c.92G>A; p.R31Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.215A>G; p.Y72C;

breastcarcinoma

c.102G>A; p.P34P;

large_intestine; caecumcarcinoma; adenocarcinoma

c.559A>G; p.I187V;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1093C>T; p.L365L;

endometriumcarcinoma; endometrioid_carcinoma

c.986C>T; p.A329V;

endometriumcarcinoma; endometrioid_carcinoma

c.794C>T; p.S265L;

breastcarcinoma

c.928A>G; p.T310A;

large_intestine; caecumcarcinoma; adenocarcinoma

c.55G>T; p.G19*;

endometriumcarcinoma; endometrioid_carcinoma

c.385G>A; p.V129M;

endometriumcarcinoma; endometrioid_carcinoma

c.270C>A; p.V90V;

endometriumcarcinoma; endometrioid_carcinoma

c.1138G>A; p.A380T;

endometriumcarcinoma; endometrioid_carcinoma

c.771G>C; p.K257N;

endometriumcarcinoma; endometrioid_carcinoma

c.54A>G; p.G18G;

endometriumcarcinoma; endometrioid_carcinoma

c.55G>A; p.G19R;

endometriumcarcinoma; endometrioid_carcinoma

c.190delT; p.C64fs*19;

breastcarcinoma

c.240T>C; p.P80P;

large_intestine; rectumcarcinoma; adenocarcinoma

c.469A>G; p.S157G;

endometriumcarcinoma; endometrioid_carcinoma

c.673C>T; p.R225W;

large_intestine; coloncarcinoma; adenocarcinoma

c.490G>A; p.V164M;

large_intestine; coloncarcinoma; adenocarcinoma

c.590G>A; p.R197H;

large_intestine; caecumcarcinoma; adenocarcinoma

c.910G>T; p.G304C;

prostatecarcinoma; adenocarcinoma

c.106G>T; p.V36L;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1036T>C; p.Y346H;

large_intestine; rectumcarcinoma; adenocarcinoma

c.77T>G; p.V26G; 9:37010768-37010768

 large_intestine; caecumcarcinoma; adenocarcinoma

c.240T>C; p.P80P;

large_intestine; rectumcarcinoma; adenocarcinoma

c.869G>A; p.G290E;

skinmalignant_melanoma

c.1076G>A; p.R359K;

skinmalignant_melanoma

c.653A>G; p.D218G;

skinmalignant_melanoma

c.826G>A; p.D276N;

skin; mucosalmalignant_melanoma

c.85A>C; p.N29H;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphoma

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