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On the GDC Project summary page or Exploration/Gene tab, why are the # of Mutations sometimes less than the # Affected Cases?

Submitted by Anonymous on

The “# Mutations” column in the Project or Exploration/Gene tab displays the number of distinct (unique) mutations within the affected cases and not necessarily the total number of all mutations within the project or query filter.

Can I use the GDC Application Programming Interface (API) to retrieve data sets associated with visualizations?

Submitted by Anonymous on

Yes. The GDC provides additional analysis endpoints to retrieve data sets associated with visualizations. Analysis endpoints include: survival, top_cases_counts_by_genes, top_mutated_genes_by_project, top_mutated_cases_by_gene, top_mutated_cases_by_ssm, and mutated_cases_count_by_project.

Please refer to the GDC API User's Guide Analysis Section for additional information.

In the Most Frequent Mutations table for the VEP impact score, which algorithm in the VEP is the GDC using to determine “H" or “M”?

Submitted by Anonymous on

The IMPACT is categorized by the Sequencing Ontology type of the variants that is also compatible to snpEff. The VEP IMPACT rating is a separate rating given for compatibility with other variant annotation tools (e.g. snpEff). Basically, each category is associated with a set of SO terms:

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