Chromosome Start Position End Position Reference Observed RSID Annotation Variant Allele Count SA Homozygote Count SA Screenee SA MAF SA MAF_AFR MAF_AMR MAF_ASJ MAF_EAS MAF_FIN MAF_NFE MAF_SAS KAVIAR MAF GME MAF Jordan MAF Qatari MAF (SA)/MAF_AFR MAF (SA)/MAF_AMR MAF (SA)/MAF_ASJ MAF (SA)/MAF_EAS MAF (SA)/MAF_FIN MAF (SA)/MAF_NFE MAF (SA)/MAF_SAS MAF (SA)/KAVIAR MAF (SA)/GME MAF (SA)/Jordan MAF (SA)/Qatari ADME_Final SIFT_score SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_pred MetaSVM_score MetaSVM_pred CADD_phred (SA)/AFR p-value (SA)/AMR p-value (SA)/ASJ p-value (SA)/EAS p-value (SA)/FIN p-value (SA)/ NFE p-value (SA)/SAS p-value (SA)/KAVIAR p-value (SA)/GME p-value (SA)/Jordan p-value (SA)/Qatari p-value 12 21294545 21294545 G A missense NM_006446.5:c.37G>A:p.Ala13Thr 2 0 11889 0.000084 0.008411 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0.117647059 0.393 T 0.027 B -1.004 T 4.299 0.683612 0.721792 0.162111 0.620453 0.535393 0.613406 0.855708 0.249315 0.456053 0.172015 0.264161 12 21317912 21317912 C G intronic NM_006446.5:c.85-7672C>G 25 1 11889 0.001051 0.105139 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0 0.016910 0.011145 0.952428 0.032455 0.072817 0.000000 0.002225 0.000000 0.144505 0.994853 0.583270 12 21325608 21325608 A G missense NM_006446.5:c.109A>G:p.Ser37Gly 3 0 11889 0.000126 0.012617 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0.352941176 0.006 D 0.815 P -0.743 T 23 0.939153 0.987807 0.225565 0.857252 0.744400 0.301212 0.847137 0.063510 0.636813 0.239556 0.369696 12 21325615 21325615 T A missense NM_006446.5:c.116T>A:p.Ile39Asn 2 0 11889 0.000084 0.008411 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0.8 0.003 D 0.985 D -0.241 T 24.7 0.683612 0.721792 0.162111 0.620453 0.535393 0.613406 0.855708 0.249315 0.456053 0.172015 0.264161 12 21327569 21327569 G A missense synonymous NM_006446.5:c.285G>A:p.Lys95Lys 1 0 11889 0.000042 0.004206 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0 0.275449 0.290697 0.069142 0.250383 0.216857 0.580922 0.344927 0.785476 0.185720 0.073170 0.110154 12 21327607 21327607 G A missense NM_006446.5:c.323G>A:p.Gly108Asp 2 0 11889 0.000084 0.008411 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0.6 0.004 D 0.151 B -0.932 T 22.9 0.683612 0.721792 0.162111 0.620453 0.535393 0.613406 0.855708 0.249315 0.456053 0.172015 0.264161 12 21329771 21329771 A C missense NM_006446.5:c.421A>C:p.Thr141Pro 2 0 11889 0.000084 0.008411 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0.117647059 1 T 0.001 B -1.001 T 0.001 0.683612 0.721792 0.162111 0.620453 0.535393 0.613406 0.855708 0.249315 0.456053 0.172015 0.264161 12 21331528 21331528 G A missense NM_006446.5:c.500G>A:p.Gly167Glu 2 0 11889 0.000084 0.008411 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0.176470588 0.212 T 0.022 B -0.998 T 4.923 0.683612 0.721792 0.162111 0.620453 0.535393 0.613406 0.855708 0.249315 0.456053 0.172015 0.264161 12 21331616 21331616 T C missense synonymous NM_006446.5:c.588T>C:p.Ile196Ile 4 0 11889 0.000168 0.016822 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0 0.864713 0.811060 0.280173 0.956772 0.913105 0.150628 0.635464 0.016555 0.785936 0.297678 0.459954 12 21350015 21350015 A C missense NM_006446.5:c.863A>C:p.Lys288Thr 1 0 11889 0.000042 0.004206 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0.352941176 0.112 T 0.03 B -1.008 T 8.266 0.275449 0.290697 0.069142 0.250383 0.216857 0.580922 0.344927 0.785476 0.185720 0.073170 0.110154 12 21350077 21350077 G A missense NM_006446.5:c.925G>A:p.Ale309Thr 2 0 11889 0.000084 0.008411 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0.058823529 0.565 T 0.002 B -1.063 T 0.023 0.683612 0.721792 0.162111 0.620453 0.535393 0.613406 0.855708 0.249315 0.456053 0.172015 0.264161 12 21353447 21353447 T C missense NM_006446.5:c.976T>C:p.Phe326Leu 4 0 11889 0.000168 0.016822 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0.117647059 1 T 0.001 B -1.002 T 0.001 0.864713 0.811060 0.280173 0.956772 0.913105 0.150628 0.635464 0.016555 0.785936 0.297678 0.459954 12 21353486 21353486 G A missense NM_006446.5:c.1015G>A:p.Val339Ile 2 0 11889 0.000084 0.008411 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0.117647059 0.424 T 0.04 B -1.009 T 2.217 0.683612 0.721792 0.162111 0.620453 0.535393 0.613406 0.855708 0.249315 0.456053 0.172015 0.264161 12 21353563 21353563 G A missense synonymous NM_006446.5:c.1092G>A:p.Glu364Glu 1 0 11889 0.000042 0.004206 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0 0.275449 0.290697 0.069142 0.250383 0.216857 0.580922 0.344927 0.785476 0.185720 0.073170 0.110154 12 21353710 21353710 C T intronic NM_006446.5:c.1135+104C>T 1 0 11889 0.000042 0.004206 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0 0.275449 0.290697 0.069142 0.250383 0.216857 0.580922 0.344927 0.785476 0.185720 0.073170 0.110154 12 21355558 21355558 A G missense synonymous NM_006446.5:c.1269A>G:p.Leu423Leu 1 0 11889 0.000042 0.004206 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0 0.275449 0.290697 0.069142 0.250383 0.216857 0.580922 0.344927 0.785476 0.185720 0.073170 0.110154 12 21358748 21358748 T C intronic NM_006446.5:c.1332-54T>C 1 0 11889 0.000042 0.004206 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0 0.275449 0.290697 0.069142 0.250383 0.216857 0.580922 0.344927 0.785476 0.185720 0.073170 0.110154 12 21358893 21358893 G C rs1015078940 missense NM_006446.5:c.1423G>C:p.Gly475Arg 6 0 11889 0.000252 0.025233 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 1 0.001 D 1 D 0.893 D 28.8 0.583231 0.528855 0.374977 0.680370 0.825296 0.038435 0.363586 0.001151 0.974672 0.398494 0.614115 12 21358933 21358933 G T missense NM_006446.5:c.1463G>T:p.Gly488Val 2 0 11889 0.000084 0.008411 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 1 0 D 1 D -0.681 T 26 0.683612 0.721792 0.162111 0.620453 0.535393 0.613406 0.855708 0.249315 0.456053 0.172015 0.264161 12 21370050 21370050 A G splicing NM_006446.5:c.1498-3A>G 5 0 11889 0.000210 0.021028 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0 0.708909 0.653750 0.329460 0.805456 0.945611 0.075923 0.479751 0.004355 0.913779 0.350110 0.540585 12 21370095 21370095 A G missense NM_006446.5:c.1540A>G:p.Asn514Asp 2 0 11889 0.000084 0.008411 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0.235294118 0.026 D 0.249 B -0.916 T 16.19 0.683612 0.721792 0.162111 0.620453 0.535393 0.613406 0.855708 0.249315 0.456053 0.172015 0.264161 12 21370203 21370203 C A missense NM_006446.5:c.1648C>A:p.Leu550Ile 6 0 11889 0.000252 0.025233 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0.2 0.114 T 0.286 B -0.912 T 6.798 0.583231 0.528855 0.374977 0.680370 0.825296 0.038435 0.363586 0.001151 0.974672 0.398494 0.614115 12 21370242 21370242 G A splicing NM_006446.5:c.1682+5G>A 4 0 11889 0.000168 0.016822 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0 0.864713 0.811060 0.280173 0.956772 0.913105 0.150628 0.635464 0.016555 0.785936 0.297678 0.459954 12 21375197 21375197 T A intronic NM_006446.5:c.1683-37T>A 3 1 11889 0.000126 0.012617 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0 0.939153 0.987807 0.225565 0.857252 0.744400 0.301212 0.847137 0.063510 0.636813 0.239556 0.369696 12 21375257 21375257 C A stop gained NM_006446.5:c.1706C>A:p.Ser569Ter 13 3 11889 0.000547 0.054672 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 1 . . . . . . 40 0.155190 0.125117 0.633647 0.217504 0.331027 0.000342 0.054555 0.000000 0.473585 0.672271 0.992242 12 21377780 21377780 T G splicing NM_006446.5:c.1865+7T>G 2 1 11889 0.000084 0.008411 0 0 0 0 0 0 0 0 0 0 0 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 >1000 0 0.683612 0.721792 0.162111 0.620453 0.535393 0.613406 0.855708 0.249315 0.456053 0.172015 0.264161