oncokb / oncokb-annotator

Annotates variants in MAF with OncoKB annotation.
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MafAnnotator annotates intronic mutation as a loss of function #201

Closed andreyurch closed 1 year ago

andreyurch commented 1 year ago

Dear team,

I found that in my dataset an intronic mutation

1 65344837 65344837 - Intron SNP G G A (Hg19 genome)

was annotated as Likely Loss-of-function and Likely Oncogenic.

I checked the location of mutation in the human genome and found that it is far from splice sites (https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg19&lastVirtModeType=default&lastVirtModeExtraState=&virtModeType=default&virtMode=0&nonVirtPosition=&position=chr1%3A65344830%2D65344844&hgsid=1642533012_WSr2c14uecnUii0sohI7YgfTU2hT)

My command was:

python3 oncokb-annotator-3.3.2/MafAnnotator.py -q Genomic_Change -i filtered_maf.txt -r GRCh37

andreyurch commented 1 year ago

I apologise, it was my mistake