Additional file 1 of Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss

Additional file 1: Table S1. List of 115 SNVs and three CNVs in SNPscan assay. Table S2. 157 hearing loss related genes included in the CDGC-HL panel. Table S3. 9,050 variants included in this study. Table S4. Allele frequency thresholds for variants could reach p-value<0.05 with different case sample size. Table S5. Variants in truth subset 1. Table S6. Variants in truth subset 2. Table S7. Variants in truth subset 3. Table S8. Evaluation metrics and positive likelihood ratio with different cutoffs in Truth Subset 1 and Truth Subset 3. Table S9. Summary of variants meeting the proposed PS4 thresholds. Table S10. The clinical and genetic findings of the 8 patients with upgraded P/LP variants. Table S11. CNVplex results of F3:II-1. Table S12. Correlation between PS4 and PM3 in the truth subset 3.