Table 4.

Summary of the TMEM87B variant

Location	dbSNP ID	Genotype	Nucleotide change	Protein change	Minor allele frequency	Conservation score	Prediction score/effect
Chr 2:112,856,265	rs369634007	Hemizygous	NM_032824.2:c.1366A>G	NP_116213.1:p.Asn456Asp	ExAC: 0.00001649 (2/121,412) EVS: 0.000077 (1/13,005) dbSNP142: 0.0002 (1/5,008)	GERP = 5.66 phastCons = 1 PhyloP = 8.366	CADD = 29.9 PolyPhen2 = 1  (probably  damaging) MutationTaster = 1  (disease-causing) PROVEAN = −4.92  (deleterious) SIFT = 0  (damaging)

ExAC, Exome Aggregation Consortium (http://exac.broadinstitute.org/); EVS, NHLBI Exome Sequencing Project—Exome Variant Server (http://evs.gs.washington.edu/EVS/); GERP, phastCons, and PhyloP score were obtained from UCSC Genome Browser GRCh37/hg19 (http://genome.ucsc.edu/); CADD, Combined Annotation Dependent Depletion (http://cadd.gs.washington.edu/); PolyPhen2, Polymorphism Phenotyping v2 (http://genetics.bwh.harvard.edu/pph2/); Mutation Taster, http://www.mutationtaster.org/; PROVEAN/SIFT, http://sift.jcvi.org/.