Subsequent variant filtering based on allele frequency and predicted functional impact identified a total of 264 rare, likely deleterious variants in 38 genes (no variants met selection criteria in PTEN or STK11) in 287 out of 1046 CRC cases, not found in the tested controls and observed at a very low frequency or absent in reference population datasets (MAF <0.001). The gene discussed is PTEN; the disease is colorectal carcinoma.