Additional file 2 of Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion

Additional file 2: Ten supporting Tables S1-S10. Table captions are as follows: Table S1. This table lists 32 individuals in the five 16p12.1 deletion families by family relationship, sex, and deletion carrier status. The table also lists membership of 13 trios with carrier offspring assessed for family-based comparisons in this study. Table S2. This table lists observed developmental phenotypes and modified de Vries scores for carrier and noncarrier children in our cohort. Table S3. This table lists observed neuropsychiatric phenotypes and phenotypic severity scores for carrier and noncarrier adults in our cohort. Table S4. This table summarizes the number of genomic variants (SNVs, CNVs, and STRs) present in each individual in the 16p12.1 deletion cohort. Table S5. This table lists Coriell Institute accession numbers for the LCL samples used in this study. Table S6. This table lists significantly up- or down-regulated Gene Ontology biological process terms in 16p12.1 deletion carriers, as identified using Parametric Analysis of Gene Set Enrichment (PAGE). Table S7. This table summarizes the numbers of gene expression changes, by family-specific pattern where applicable, identified in each individual in the 16p12.1 deletion cohort. Boxes shaded grey and labeled N/A indicate samples without available family-specific patterns for expression changes. Table S8. This table lists rare "second-hit" variants that may contribute to synergistic gene expression changes along with the 16p12.1 deletion in carrier children. Table S9. This table lists identified eQTL variants in the 16p12.1 deletion cohort, including beta and FDR values, population frequency, associated eGene, and presence in GTEx LCL datasets. Table S10. The table lists all individuals in the cohort who carry a minor allele for the identified eQTLs.