Filtered for probands. All coordinates in the validation table were uniquely mapping to the proband variants in S3 with the exception of one that was manually resolved based on allelic fraction. SSC04635 appears to have both a high confidence and low confidence mosaic call. We merged the annotations and changed the "VARICARTA_TableS4_Interpretation" field to "High-confidence mosaics/Low-confidence mosaics". We considered anything with "High-confidence mosaic" as "mosaic", otherwise we left the variant as "de novo" (based on the table name). Note: The ID 5060_201_child from Neale2012 was resused in Lim2017, under 5060_201 respectively. We updated this ID to 5060_201_child matching Neale2012.