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OncoKB Gene Panel: Listing of All Nonsynonymous Variants in Genes of Interest; Variant May or May Not Play a Role in Cancer Predisposition
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Patient ID
428986
Open Patient
Specimen ID
081-R
Open Specimen
Sample ID
V2-organoid
Open Sample
OncoKB Version
v3.14
Chr
chr3
Chr Start
178952085
Chr End
178952085
Ref Allele
A
Alt Allele
G
HGVS cDNA Change
c.3140A>G
HGVS Protein Change
p.H1047R
Existing Variant
rs121913279,COSM249874,COSM775,COSM776,COSM94986,COSM94987
Variant Class
Missense_Mutation
Total Reads
768
PolyPhen
benign(0.085)
Oncogenicity
Oncogenic
Predicted
Functional Effect
Gain-of-function