GEENIE cBioPortal Issue- Frequencies NA?

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Megan Harper

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Nov 12, 2025, 10:24:09 AMNov 12
to cbiop...@googlegroups.com
When I am examining the GENIE Cohort v18.0-public dataset, a number of
genes show "NA" for the frequency of mutations. This is occurring for
somatic mutations, CNA's, and structural variants. When I download the
data, it shows that 0 samples were profiled. However, it also shows
that X number of samples were found to be mutated (which is impossible
if 0 samples were truly profiled). Is this a data entry error, or a
coding error that is pulling data incorrectly that can be fixed?

See the study sample below for reference:
https://genie.cbioportal.org/study/summary?id=69123edfb2bb32147b01160b

Thanks,
Meg Harper

Aaron L

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Nov 12, 2025, 10:40:09 AMNov 12
to Megan Harper, Ritika Kundra, cbiop...@googlegroups.com
Hi Megan, thanks for reaching out.   The frequency=NA is a solution we put in place for exactly the situation you describe, when data has mutation events for genes that aren't profiled.  We don't want to hide the mutations, but it also isn't right to quote a frequency.  I'm going to ask our curation team @Ritika Kundra for insight into why this scenario might occur. 

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