Suzanne de Bruijn

124 Chapter 3.1 SUPPLEMENTARY TABLES Table S1. Shared rareWES variants in familyW97-056 Genome Gene Transcript cDNA Protein In-house AF (%) gnomAD_E AF (%) gnomAD_G AF (%) CADD_ PHRED SIFT PPH2 MutationTaster (prob) Chr1: 248,059,798T>A OR2W3 NM_001001957.2 c.910T>A p.(Leu304Met) 0.07 0.02 0.03 6.504 0.1 0.032 Polymorphism (1.0) Chr6: 15,501,310C>T JARID2 NM_004973.3 c.2118C>T p.(Leu706=) 0.18 0.03 0.04 NA NA NA NA Chr6: 16,146,884C>T MYLIP NM_013262.3 c.1249-9C>T - 0.01 - - NA NA NA NA Chr6: 24,843,303_24,843,314del RIPOR2 NM_014722.3 c.1696_1707del p.(Gln566_Lys569del) 0.08 0.00 - NA NA NA NA Chr6: 41,196,733C>T TREML4 NM_198153.2 c.345C>T p.(Ser115=) 0.47 0.31 0.30 NA NA NA NA Chr6: 44,329,574G>A SPATS1 NM_145026.3 c.419G>A p.(Gly140Glu) 0.18 0.11 0.12 19.16 0.02 1.0 Disease causing (0.98) Variants identified by whole exome sequencing (WES) that are shared by all three index cases of family W97-057 and have an allele frequency of ≤0.5% in gnomAD and the in-house database (~7,500 exomes). For none of the variants is an effect on transcript splicing predicted nor are any reported in the ClinVar database. Scores that meet the thresholds for pathogenicity as described in the methods section are indicated in red. Thresholds for pathogenicity: CADD-PHRED (≥15), SIFT (≤0.05), PolyPhen-2 (≥0.450) and MutationTaster (disease causing). Genome, Genomic positions according to GRCh37/hg19; In-house AF, allele frequency (%) in the in-house database (~15,000 alleles); GnomAD_E AF and GnomAD_G AF, allele frequencies (%) in respectively gnomAD exome or genome databases; CADD_PHRED, Combined Annotation Dependent Depletion PHRED score; SIFT, Scale-Invariant Feature Transform; PPH2, Poly-Phen-2 score; MutationTaster (prob), MutationTaster score with probability (0-1); -, frequency not available; NA, not applicable.