| Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx) | GERP++_RS_a (Cubuk et al. 2021) | BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021) | Benignity likelihood ratio (Source 'negative likelihood ratio' (TNR/FNR): likelihood ratio for benignity of a tolerated call, BRCA1 functional truth set) | 7.59 |
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| Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx) | GERP++_RS_a (Cubuk et al. 2021) | BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021) | False negatives (Functionally deleterious BRCA1 variants called tolerated) | 6 |
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| Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx) | GERP++_RS_b (Cubuk et al. 2021) | BRCA2 functional truth set, binary in silico calls (Cubuk et al. 2021) | Benignity likelihood ratio (Source 'negative likelihood ratio' (TNR/FNR): likelihood ratio for benignity of a tolerated call, BRCA2 functional truth set) | 5.98 |
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| Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx) | GERP++_RS_c (Cubuk et al. 2021) | BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021) | Likelihood ratio (Positive likelihood ratio of a deleterious call (TPR/FPR), BRCA1 functional truth set) | 1.78 |
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| Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx) | GERP++_RS_c (Cubuk et al. 2021) | BRCA2 functional truth set, binary in silico calls (Cubuk et al. 2021) | Likelihood ratio (Positive likelihood ratio of a deleterious call (TPR/FPR), BRCA2 functional truth set) | 1.26 |
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| Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx) | phastCons100way_vertebrate (Cubuk et al. 2021) | BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021) | Benignity likelihood ratio (Source 'negative likelihood ratio' (TNR/FNR): likelihood ratio for benignity of a tolerated call, BRCA1 functional truth set) | 5.4 |
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| Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx) | phastCons100way_vertebrate (Cubuk et al. 2021) | BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021) | False negatives (Functionally deleterious BRCA1 variants called tolerated) | 24 |
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| Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx) | phastCons20way_mammalian (Cubuk et al. 2021) | BRCA1 functional truth set, binary in silico calls (Cubuk et al. 2021) | Likelihood ratio (Positive likelihood ratio of a deleterious call (TPR/FPR), BRCA1 functional truth set) | 1.47 |
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| Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx) | phastCons20way_mammalian (Cubuk et al. 2021) | BRCA2 functional truth set, binary in silico calls (Cubuk et al. 2021) | Benignity likelihood ratio (Source 'negative likelihood ratio' (TNR/FNR): likelihood ratio for benignity of a tolerated call, BRCA2 functional truth set) | 1.95 |
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| Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes; Cubuk et al. 2021, Supplementary tables 1-13 (41436_2021_1265_MOESM3_ESM.xlsx) | phastCons20way_mammalian (Cubuk et al. 2021) | BRCA2 functional truth set, binary in silico calls (Cubuk et al. 2021) | Likelihood ratio (Positive likelihood ratio of a deleterious call (TPR/FPR), BRCA2 functional truth set) | 1.53 |
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| An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role) | GERP_92_mammals rank score, dbNSFP 5.3.1a (Lee 2026) | CGC missense oncogenicity, all genes (Lee 2026, OncoCal tool_performance.tsv) | AUROC (CGC missense, all genes) | 0.691 |
|---|
| An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role) | GERP_92_mammals rank score, dbNSFP 5.3.1a (Lee 2026) | CGC missense oncogenicity, oncogenes (gain of function) (Lee 2026, OncoCal tool_performance.tsv) | AUROC (CGC missense, oncogenes (gain of function)) | 0.662 |
|---|
| An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role) | GERPpp_RS rank score, dbNSFP 5.3.1a (Lee 2026) | CGC missense oncogenicity, all genes (Lee 2026, OncoCal tool_performance.tsv) | Average precision (CGC missense, all genes) | 0.285 |
|---|
| An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role) | GERPpp_RS rank score, dbNSFP 5.3.1a (Lee 2026) | CGC missense oncogenicity, oncogenes (gain of function) (Lee 2026, OncoCal tool_performance.tsv) | Average precision (CGC missense, oncogenes (gain of function)) | 0.349 |
|---|
| An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role) | GERPpp_RS rank score, dbNSFP 5.3.1a (Lee 2026) | CGC missense oncogenicity, tumour suppressors (loss of function) (Lee 2026, OncoCal tool_performance.tsv) | Average precision (CGC missense, tumour suppressors (loss of function)) | 0.253 |
|---|
| An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role) | GERPpp_RS rank score, dbNSFP 5.3.1a (Lee 2026) | CGC missense oncogenicity, tumour suppressors (loss of function) (Lee 2026, OncoCal tool_performance.tsv) | AUROC (CGC missense, tumour suppressors (loss of function)) | 0.757 |
|---|
| An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role) | phastCons100way_vertebrate rank score, dbNSFP 5.3.1a (Lee 2026) | CGC missense oncogenicity, all genes (Lee 2026, OncoCal tool_performance.tsv) | Average precision (CGC missense, all genes) | 0.268 |
|---|
| An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role) | phastCons100way_vertebrate rank score, dbNSFP 5.3.1a (Lee 2026) | CGC missense oncogenicity, all genes (Lee 2026, OncoCal tool_performance.tsv) | AUROC (CGC missense, all genes) | 0.678 |
|---|
| An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role) | phastCons100way_vertebrate rank score, dbNSFP 5.3.1a (Lee 2026) | CGC missense oncogenicity, tumour suppressors (loss of function) (Lee 2026, OncoCal tool_performance.tsv) | Average precision (CGC missense, tumour suppressors (loss of function)) | 0.206 |
|---|
| An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role) | phastCons100way_vertebrate rank score, dbNSFP 5.3.1a (Lee 2026) | CGC missense oncogenicity, tumour suppressors (loss of function) (Lee 2026, OncoCal tool_performance.tsv) | AUROC (CGC missense, tumour suppressors (loss of function)) | 0.72 |
|---|
| An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role) | phastCons17way_primate rank score, dbNSFP 5.3.1a (Lee 2026) | CGC missense oncogenicity, oncogenes (gain of function) (Lee 2026, OncoCal tool_performance.tsv) | Average precision (CGC missense, oncogenes (gain of function)) | 0.405 |
|---|
| An openly licensed benchmark and per-gene calibration map for missense pathogenicity predictors on activating cancer drivers; OncoCal repository, tables/tool_performance.tsv (per-tool AUROC and AUPRC by gene role) | phastCons17way_primate rank score, dbNSFP 5.3.1a (Lee 2026) | CGC missense oncogenicity, oncogenes (gain of function) (Lee 2026, OncoCal tool_performance.tsv) | AUROC (CGC missense, oncogenes (gain of function)) | 0.68 |
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| Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML) | GERP++ (Livesey and Marsh 2025) | Livesey and Marsh 2025 clinical benchmark: pairwise AUROC win rate, ClinVar pathogenic versus gnomAD missense | Pairwise win rate (average pairwise win rate against all other VEPs, per-protein AUROC on shared variants, ClinVar P/LP versus gnomAD v4.1 missense, proteins with at least 10 of each) | 12.4 |
|---|
| Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML) | phastCons (Livesey and Marsh 2025) | Livesey and Marsh 2025 clinical benchmark: pairwise AUROC win rate, ClinVar pathogenic versus gnomAD missense | Pairwise win rate (average pairwise win rate against all other VEPs, per-protein AUROC on shared variants, ClinVar P/LP versus gnomAD v4.1 missense, proteins with at least 10 of each) | 8.73 |
|---|
| Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML) | GERP++ (Livesey and Marsh 2025) | Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, all 36 DMS sets | Pairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, 36 human DMS sets) | 8.8 |
|---|
| Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML) | phastCons (Livesey and Marsh 2025) | Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, all 36 DMS sets | Pairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, 36 human DMS sets) | 7.01 |
|---|
| Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML) | GERP++ (Livesey and Marsh 2025) | Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, indirect assays only | Pairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, indirect DMS assays only) | 8.55 |
|---|
| Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML) | phastCons (Livesey and Marsh 2025) | Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, indirect assays only | Pairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, indirect DMS assays only) | 5.5 |
|---|
| Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML) | GERP++ (Livesey and Marsh 2025) | Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions with gaps filled | Pairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS, SNV-accessible substitutions, missing predictions filled with the VEP's most benign score) | 9.43 |
|---|
| Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML) | phastCons (Livesey and Marsh 2025) | Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions with gaps filled | Pairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS, SNV-accessible substitutions, missing predictions filled with the VEP's most benign score) | 7.54 |
|---|
| Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML) | GERP++ (Livesey and Marsh 2025) | Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions only | Pairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, SNV-accessible substitutions only) | 8.8 |
|---|
| Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8); Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML) | phastCons (Livesey and Marsh 2025) | Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions only | Pairwise win rate (average pairwise win rate against all other VEPs, |Spearman| with DMS on shared variants, SNV-accessible substitutions only) | 7.01 |
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