Additional file 1: Table S1. of Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Summary of clinical features and disease/candidate variants identified. The major clinical features and the disease/candidate variants as well as the prediction scores and classifications for damaging effect of the variants are listed. For Polyphen2 (Pph2), D for probably damaging, P for possibly damaging, and B for benign. For LRT, D for deleterious, N for neutral, and U for unknown. For MutationTaster (MT), A for disease causing automatic, D for disease causing, N for polymorphism, and P for polymorphism automatic. Moreover, this table includes the ranking and ACMG criteria for each gene, the supporting evidence and the discussion of other variants, as well as the frequency/number of the variants in our internal CMG database, Atherosclerosis Risk in Communities Study (ARIC), ExAC database, Thousand Genome project, and NHLBI GO Exome Sequencing Project (ESP). pLI: probability of loss-of-function (LoF) intolerance. Table S2. Categorization of families based on major clinical features. Y: the family has this clinical feature; N: the family does not have this clinical feature. Families with brain malformations were not counted in the ID/DD groups, even if this feature was present. Percentages of families with each feature are shown at the bottom of the table. Table S3. Categorization of disease genes/candidates by major clinical features. Table S4. AOH metrics for the probands carrying known or candidate disease genes. Table S5. Raw data of ddPCR in RPS6KC1 in family 025. Table S6. Homologs of disease genes/candidates between human and fruit fly. The HCOP website ( http://www.genenames.org/cgi-bin/hcop ) was used to identify the fly homologs of the identified disease/candidate genes, listed in the upper panel. These fly homologs are then used to search for additional human homologs to find paralogs of the original human genes, as shown in the bottom part of the list. (XLS 165 kb)