Additional file 1: of Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Table S1. Recessive variants found in at least two affected children of different trios. Possibly pathogenic recessive variants (polymorphisms) found by whole-exome -sequencing in at least two affected children of the trios (T). Chr., chromosome; SNP, single nucleotide polymorphism; QUAL., a quality parameter measuring the probability p that the observation of the variant is due to chance (for ex: QUAL = n, p = 1/n). As detailed in the text, Alamut® Visual integrates missense variant pathogenicity prediction tools and in silico study of variants’ effect on RNA splicing, allowing the assessment of their potential impact on splice junctions and splicing regulatory sequences. Alamut® Visual helped us also to exclude well known mutations identified in recessive diseases for those genes which have been related to known genetic diseases (as shown in Table 3). (DOCX 23 kb

Additional file 4: of Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Figure S1. CADD scoring of prioritized variants versus other variants in the selected genes. (PDF 71 kb

Additional file 2: of Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Table S2. Recessive variants shared by a common gene in at least two different trios. Possibly pathogenic recessive variants observed at different positions for a single gene in at least two affected children of the trios (T). Abbreviations are the same as in Tables 1, 2 and Additional file 1: Table S1. (DOCX 31 kb

Additional file 3: of Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Table S3. Composite heterozygocity observed in a common gene in at least two different trios. Possibly pathogenic compound heterozygous variants (allelic heterogeneity) observed in different positions of a common gene in at least two trios. The origin of either the paternal and maternal allele was detailed for each variant. Abbreviations are the same as in Tables 1, 2, Additional files 1 and 2: Tables S1 and S2. (DOCX 51 kb

Additional file 6: of Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

All recessive variants identified in cases T1, T2 and T3. The de novo dominant variants have been fully described in the manuscript. The datasets of cases T1, T2 and T3 extracted from VCF (Variant call Format) and extracted in XLS file. (XLSX 368 kb