Supplementary datasets for "Improving interpretation of POLE and POLD1 genetic variants in cancer using clinical, in silico, and functional data"

Supplementary datasets associated with the doctoral thesis “Improving interpretation of POLE and POLD1 genetic variants in cancer using clinical, in silico, and functional data”. The Excel workbook contains four worksheets corresponding to Supplementary Datasets 1–4. The Datasets are as follows: Supplementary Dataset 1: Clinical phenotypes of individuals included in the PPAP cohort. Supplementary Dataset 2: Evidence and classification of the variants included in Chapter I that were identified in individuals with PPAP. Supplementary Dataset 3: Evidence and classification of 155 variants identified in heterozygous carriers, before and after incorporating evidence from computational pathogenicity predictors benchmarked in Chapter II. Supplementary Dataset 4: Evidence and classification of the 24 variants assessed using the mutational signature-based functional assay (Chapter III).