Chromosome Position Reference base Call base 1000 Genomes frequency dbSNP ID Gene Protein Amino acid substitution Call depth Reference calls Variant calls A T C G Genome build PolyPhen-2 prediciton SIFT prediction 1 10468185 C S 0 ENSG00000142657 (PGD) ENSP00000270776 P169P 39 22 17 0 0 0 17 GRCh37 (synonymous) 1 44415586 G A 0.0078 ENSG00000117408 (IPO13) ENSP00000361418 L194L 7 1 6 6 0 0 0 GRCh37 (synonymous) 1 89652072 C T 0 rs561037 ENSG00000162654 (GBP4) ENSP00000359490 E551K 63 0 63 0 63 0 0 GRCh37 BENIGN 4 1389156 T C 0 rs71614972 ENSG00000179979 (CRIPAK) ENSP00000323978 M286T 31 3 28 0 0 28 0 GRCh37 BENIGN 4 8418148 T K 0.0068 rs12513296 ENSG00000087008 (ACOX3) ENSP00000348775 E34A 13 9 4 0 0 0 4 GRCh37 BENIGN 6 44272249 G A 0 ENSG00000124608 (AARS2) ENSP00000244571 R592W 16 0 16 16 0 0 0 GRCh37 PROBABLY DAMAGING 9 39085808 T C 0 rs1412360 ENSG00000106714 (CNTNAP3) ENSP00000297668 T1123A 25 0 25 0 0 25 0 GRCh37 BENIGN 10 51464656 G C 0 rs61850063 ENSG00000204169 (AGAP7) ENSP00000363208 D600E 10 2 8 0 0 8 0 GRCh37 BENIGN 15 73635845 C T 0 ENSG00000138622 (HCN4) ENSP00000261917 D364N 47 0 47 0 47 0 0 GRCh37 PROBABLY DAMAGING X 57162895 G A 0 rs2003812 ENSG00000147059 (SPIN2A) ENSP00000364041 R46C 17 1 16 16 0 0 0 GRCh37 BENIGN