FIGURE 1.

Variant selection for validation studies. Flow chart for variant prioritization for validation studies is shown for TP53 mutation associations (A) and PIK3CA mutation associations (B). Variants were first filtered by P values, MAF, and location near relevant GWAS loci. Variants were then filtered by ORs, location relative to gene with role in breast cancer, TP53 or PI3K/AKT pathway and then by RegulomeDB score. Variants are only counted once but may fall within one or more categories.