Table 1. Roifman Syndrome compound heterozygous variants detected in six affected individuals.

Subject, kindred	Allele	U4atac snRNA pos	Sub	Freq 1000G	Freq cg1KG	Freq cgW597	PhyloP PMam	MOPD1/Novel	dbSNP
1–2 K1	Pat	13	C>T	0	0	0.0008	2.57	Novel	—
1–2 K1	Mat	37	G>A	0	0	0	2.63	Novel	—
3, K2	Pat	13	C>T	0	0	0.0008	2.57	Novel	—
3, K2	Mat	48	G>A	0	0	0	2.63	Novel	—
4–5, K3	Mat	16	G>A	0	0	0.0008	2.63	Novel	—
4–5, K3	Pat	51	G>A	0.0014	0	0	1.37	MOPD1	rs188343279
6, K4	Mat	8	C>T	0	0.0011	0	2.57	Novel	rs370715569
6, K4	Pat	118	T>C	0	0	0	2.12	Novel	—

Subject, kindred, subject and kindred index; Allele, maternal or paternal allele indication (all variants are coumpound heterozygous); U4atac snRNA pos, U4atac snRNA position (1 corresponds to the genomic coordinate 122,288,456 on chromosome 2, hg19 reference); Sub, substitution (reference>alternate); Freq 1000G, Freq cg1kG, Freq cgW597, alternate allele frequency in the 1000 Genomes project, and in the internal Complete Genomics control databases based on the 1000 Genomes subset and the Wellderly study (436 and 597 subjects, respectively); PhyloP PMam, UCSC placental mammal PhyloP score of genomic nucleotide conservation (score>0 corresponds to negative selection); MOPD1/Novel, variant previously reported as causal for MOPD1, or reported for the first time as causing a genetic disorder; dbSNP, matching dbSNP138 record.