Chr Position Identifier Ref/Alt DP QD Quality Classification Gene Exon HGVS Coding HGVS Protein 2 77952555 ? G/A 13 19 165 Stopgain DAZAP1 5 c.304C > T p.Gln102* 4 107810302 ? C/A 46 26 1723 Stopgain MCL1 2 c.92C > A p.Ser31* 7 58576014 ? G/T 38 6 248 Stopgain UNC45A 18 c.2320G > T p.Glu774* 13 1095554 ? G/A 13 8 102 Stopgain ASTE1 4 c.146G > A p.Trp49* 14 33232916 ? T/A 19 8 166 Stopgain P2RX4 13 c.1084A > T p.Lys362* 14 53029449 ? A/T 129 5 784 Stopgain SNRPD3 2 c.22A > T p.Lys8* 14 122996299 ? C/A 16 6 96 Stopgain PPRC1 5 c.1442C > A p.Ser481* 16 42659625 ? C/T 13 8 105 Stopgain ERCC8 4 c.321G > A p.Trp107* 7 123586577 ? T/A 11 21 254 Stoploss DICER1 22 c.4697A > T p.*1566Leuext*? 8 124953125 ? A/T 14 28 391 Stoploss PPA2 5 c.332A > T p.*111Leuext*22 14 12523156 rs81212863 A/G 155 32 5198 Stoploss CLU 3 c.124T > C p.*42Argext*13 14 41268275 ? A/C 40 29 1542 Stoploss OAS1 6 c.1076A > C p.*359Serext*8 14 88489098 rs196953202 T/C 49 20 671 Stoploss ANXA11 13 c.1324T > C p.*442Argext*10 16 65096704 ? A/C 12 28 335 Stoploss MAT2B 7 c.976T > G p.*326Glyext*11 X 141373463 ? T/G 94 18 2304 Stoploss CETN2 6 c.477A > C p.*159Cysext*22