Supplementary Table 2.
Variants | REVEL | Polyphen-2 | SIFT | Mutation taster | CADD | Mutation assessor | MetalR | LRT | MetaSVM | FATHMM |
---|---|---|---|---|---|---|---|---|---|---|
MBOAT1 (c. 770C>T) | 0.59 (LDC) | 0.961 (D) | 0.01 (D) | Damage | 24 | 0.769 (M) | 0.518 (D) | 0.000046 (D) | −0.106 (T) | −0.69 (T) |
TYW1 (c. 524C>T) | 0.73 (LDC) | 0.982 (D) | 0.003 (D) | Damage | 25 | 0.769 (M) | 0.621 (D) | 0.00 (D) | 0.353 (D) | −1.19 (T) |
SIFT: sorting intolerant from tolerant; MBOAT1: membrane-bound O-acyltransferase domain-containing 1; CADD: Combined Annotation Dependent Depletion; REVEL: Rare Exome Variant Ensemble Learner; LRT: Likelihood Ratio Test; FATHMM: Functional Analysis Through Hidden Markov Models; MetaSVM: Meta-analytic support vector machine; LDC: Likely disease causing; D: deleterious; M: medium; T: tolerance; TYW1: tRNA-yW synthesizing protein 1 homolog