Molecular Vision: Garnai, Mol Vis 2014; 20:1579-1593. Table 1

Table 1. Prioritization of non-synonymous variants in the linkage interval found by whole-exome sequencing in transcripts that are in Ensembl release 74.

AD or AR	Chr 22 Position	dbSNP132	Alleles		Bases for prioritization					Gene/Locus
			Alleles		Evolutionary conservation		Allele frequency		Protein prediction
			Ref	Alt	PhyloP	GERP	ESP	1000G	PolyPhen
AD/AR	18,354,783	rs5992128	T	G	0.594	2.19	0.024825	0.02	benign	MICAL3\|XXbac-B461K10.4
AD/AR	19,471,506	rs9606030	A	G	0.226	1.73	0.001852	0.0014	benign	CDC45
AD/AR	22,049,783	rs12484060	C	T	0.694	1.82	0.337418	0.39	benign	PPIL2
AD/AR	22,318,354	rs75602167	T	C	1.096	2.79	0.02151	0.01	benign	TOP3B
AD	24,035,970	rs2070446	C	T	0.167	1.45	0.705556	0.76	benign	RGL4
AD	24,038,847	rs1007298	T	C	−0.18	−1.35	0.689513	0.75	benign	RGL4
AD	24,179,922	rs3177243	G	C	5.424	3.92	0.15812	0.15	benign	DERL3
AD	24,199,704	rs16986337	C	T	0.28	−0.222	0.032479	0.08	possibly damaging	SLC2A11
AD	24,226,890	rs60699980	G	A	2.124	1.05	0.02963	0.03	probably damaging	SLC2A11

Chr=chromosome, SNP=single-nucleotide polymorphism, Ref=reference allele, Alt=alternate allele, PhyloP=phylogenetic p value, GERP=genomic evolutionary rate profiling, ESP=NHLBI Exome Sequencing Project, 1000G=1000 Genomes Project, AR=autosomal recessive, AD=autosomal dominant, bold indicates values suggesting reduced priority as a candidate for further evaluation. PolyPhen result is from Ensembl. Chromosome 22 positions are reported using hg19/GRCh37 coordinates.