MCPyV status Sample
Transcrição
MCPyV status Sample
Supplemental Table S6. Nonsynonymous somatic mutations in MCC tumors. Cohort MCPyV Sample status Chr Start End Ref Alt Gene SNV Type frameshift substitution Index Negative MO_1160 2 163361167 163361168 CC TT KCNH7 Index Negative MO_1160 2 223423065 223423066 GG AA SGPP2 Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 1 1115974 1115975 CC TT TTLL10 nonframeshift substitution Index Negative MO_1160 1 1918470 1918471 CC TT CFAP74 nonframeshift substitution Index Negative MO_1160 1 3649625 3649626 GG AA TP73 nonframeshift substitution Index Negative MO_1160 1 6169894 6169895 GG AA CHD5 Index Negative MO_1160 1 7796530 7796531 GG AA CAMTA1 Index Negative MO_1160 1 9416317 9416318 CC TT SPSB1 Index Negative MO_1160 1 19455492 19455493 GG AA UBR4 Index Negative MO_1160 1 22850724 22850725 CC TT ZBTB40 nonframeshift substitution Index Negative MO_1160 1 26670417 26670418 CC TT AIM1L nonframeshift substitution Index Negative MO_1160 1 27426931 27426932 GG AA SLC9A1 nonframeshift substitution Index Negative MO_1160 1 31453001 31453002 GG TA PUM1 nonframeshift substitution Index Negative MO_1160 1 33778490 33778491 CC TT A3GALT2 nonframeshift substitution Index Negative MO_1160 1 43880780 43880781 CC TT SZT2 nonframeshift substitution Index Negative MO_1160 1 43908504 43908505 CC TT SZT2 nonframeshift substitution Index Negative MO_1160 1 46488960 46488961 CC TT MAST2 nonframeshift substitution Index Negative MO_1160 1 52744184 52744185 CC TT ZFYVE9 nonframeshift substitution Index Negative MO_1160 1 70488859 70488860 CC TT LRRC7 nonframeshift substitution Index Negative MO_1160 1 111060392 111060393 GG AT KCNA10 nonframeshift substitution Index Negative MO_1160 1 114964195 114964196 GG AA TRIM33 nonframeshift substitution Index Negative MO_1160 1 152692051 152692052 GG AA C1orf68 nonframeshift substitution Index Negative MO_1160 1 154744707 154744708 GG AA KCNN3 nonframeshift substitution 16 X 21035917 21035918 CC TT DNAH3 32717228 32717229 CC TT DMD frameshift substitution frameshift substitution frameshift substitution nonframeshift substitution nonframeshift substitution nonframeshift substitution nonframeshift substitution AAChange KCNH7:NM_173162: exon5:c.893_893AA, KCNH7:NM_033272: exon6:c.914_914AA SGPP2:NM_152386: exon5:c.649_649AA DNAH3:NM_017539: exon39:c.5646_5646 DMD:NM_000109:ex on8:c.807_807AA,D MD:NM_004006:exo n8:c.831_831AA,DM D:NM_004009:exon8 :c.819_819AA,DMD: NM_004010:exon8:c TTLL10:NM_153254: exon3:c.399_400TT, TTLL10:NM_001130 045:exon7:c.618_61 CFAP74:NM_001080 484:exon5:c.300_30 TP73:NM_00120419 0:exon10:c.1503_15 04AA,TP73:NM_001 204191:exon10:c.14 58_1459AA,TP73:N M_001126240:exon1 2:c.1746_1747AA,T P73:NM_001204187: exon12:c.1650_1651 AA,TP73:NM_00120 4188:exon12:c.1605 _1606AA,TP73:NM_ 001204192:exon12:c .1680_1681AA,TP73 :NM_005427:exon14 CHD5:NM_015557:e xon38:c.5538_5539T CAMTA1:NM_01521 5:exon13:c.3193_31 SPSB1:NM_025106: exon2:c.367_368TT UBR4:NM_020765:e xon61:c.8982_8983T ZBTB40:NM_014870 :exon17:c.3312_331 3TT,ZBTB40:NM_00 1083621:exon18:c.3 312_3313TT AIM1L:NM_0010397 75:exon2:c.2731_27 32AA SLC9A1:NM_003047 :exon12:c.2314_231 5TT PUM1:NM_0010206 58:exon9:c.1261_12 62TA,PUM1:NM_014 676:exon9:c.1261_1 262TA A3GALT2:NM_0010 80438:exon2:c.24_2 5AA SZT2:NM_015284:ex on5:c.526_527TT SZT2:NM_015284:ex on58:c.7995_7996T T MAST2:NM_015112: exon14:c.1541_1542 TT ZFYVE9:NM_007324 :exon8:c.2590_2591 TT,ZFYVE9:NM_004 799:exon9:c.2767_2 768TT LRRC7:NM_020794: exon15:c.1482_1483 TT KCNA10:NM_00554 9:exon1:c.1017_101 8AT TRIM33:NM_015906 :exon11:c.1923_192 4TT,TRIM33:NM_03 3020:exon11:c.1923 _1924TT C1orf68:NM_001024 679:exon1:c.54_55A A KCNN3:NM_001204 087:exon3:c.1191_1 192TT,KCNN3:NM_0 02249:exon3:c.1191 _1192TT,KCNN3:NM _170782:exon3:c.27 6_277TT 1000g2014 cosmic70 snp138 sep_all N Ref N Var N var RD Freq T Var RD T Ref T var Freq NA NA NA 66 0 0% 84 40 32.26% NA NA NA 365 0 0% 307 132 30.07% NA NA NA 46 0 0% 46 26 36.11% NA NA NA 77 0 0% 30 64 68.09% NA NA NA 113 0 0% 91 55 37.67% NA NA NA 304 0 0% 268 133 33.17% NA NA NA 611 1 0.16% 506 252 33.25% NA NA NA 284 0 0% 260 152 36.89% NA NA NA 293 1 0.34% 262 141 34.99% NA NA NA 656 0 0% 594 394 39.88% NA NA NA 132 0 0% 118 86 42.16% NA NA NA 140 0 0% 135 78 36.62% NA NA NA 308 0 0% 278 152 35.35% NA NA NA 671 0 0% 570 315 35.59% NA NA NA 104 0 0% 119 57 32.39% NA NA NA 106 0 0% 100 53 34.64% NA NA NA 81 0 0% 73 35 32.41% NA NA NA 504 0 0% 487 230 32.08% NA NA NA 198 0 0% 176 67 27.57% NA NA NA 73 0 0% 84 43 33.86% NA NA NA 223 0 0% 198 120 37.74% NA NA NA 799 1 0.12% 676 355 34.43% NA NA NA 278 1 0.36% 248 114 31.49% NA NA NA 574 1 0.17% 496 266 34.91% NA NA NA 761 0 607 346 36.31% 0% Index Negative MO_1160 1 156449509 156449510 GG AA MEF2D Index Negative MO_1160 1 158436278 158436279 CT TC OR10K1 Index Negative MO_1160 1 159505383 159505384 CC TT OR10J5 Index Negative MO_1160 1 162724457 162724458 CC TT DDR2 Index Negative MO_1160 1 169696912 169696913 CC TT SELE Index Negative MO_1160 1 176526166 176526167 GG AA PAPPA2 Index Negative MO_1160 1 176762787 176762788 GG AA PAPPA2 Index Negative MO_1160 1 190067420 190067421 GG AA BRINP3 Index Negative MO_1160 1 200080380 200080381 CC TT NR5A2 Index Negative MO_1160 1 200842317 200842318 CC TT GPR25 Index Negative MO_1160 1 205275320 205275321 GG AA NUAK2 Index Negative MO_1160 1 228467583 228467584 GG TA OBSCN Index Negative MO_1160 1 240370414 240370415 CC TT FMN2 Index Negative MO_1160 2 9004329 Index Negative MO_1160 2 27320509 27320510 GG AA Index Negative MO_1160 2 58459232 58459233 GG AA Index Negative MO_1160 2 61415516 61415517 GT AA Index Negative MO_1160 2 109399185 109399186 GG AA Index Negative MO_1160 2 131521719 131521720 CC TT Index Negative MO_1160 2 179589084 179589085 CC TT Index Negative MO_1160 2 191524088 191524089 CC TT Index Negative MO_1160 2 191839606 191839607 CC TT Index Negative MO_1160 2 219206840 219206841 GG AA Index Negative MO_1160 2 219247694 219247695 CC TT MEF2D:NM_001271 629:exon5:c.475_47 nonframeshift 6TT,MEF2D:NM_005 NA substitution 920:exon5:c.475_47 6TT OR10K1:NM_00100 nonframeshift 4473:exon1:c.927_9 NA substitution 28TC OR10J5:NM_001004 nonframeshift 469:exon1:c.414_41 NA substitution 5AA NA NA 157 0 0% 143 95 39.92% NA NA 242 0 0% 220 91 29.26% NA NA 442 0 0% 324 216 NA NA 244 0 0% 240 136 36.17% NA NA NA 282 0 0% 261 132 33.59% NA NA NA 256 0 0% 249 126 33.60% NA NA NA 235 0 0% 190 120 38.71% NA NA NA 266 1 0.37% 245 123 33.42% NA NA NA 89 0 0% 83 37 30.83% NA NA NA 224 0 0% 168 113 40.21% NA NA NA 186 0 0% 186 97 34.28% NA NA NA 686 0 0% 519 357 40.75% nonframeshift FMN2:NM_020066:e NA substitution xon5:c.2302_2303TT NA NA 435 0 0% 388 189 32.76% NA NA NA 82 0 0% 100 57 36.31% NA NA NA 230 2 0.86% 218 132 37.71% NA NA NA 77 0 0% 71 38 34.86% NA NA NA 213 0 0% 228 100 30.49% NA NA NA 288 0 0% 313 167 34.79% NA NA NA 407 0 0% 348 209 37.52% NA NA NA 122 0 0% 117 64 35.36% NA NA NA 167 0 0% 146 102 41.13% NA NA NA 152 0 0% 157 89 36.18% NA NA NA 101 0 0% 128 56 30.43% NA NA NA 90 0 0% 61 44 41.90% DDR2:NM_006182:e nonframeshift xon5:c.229_230TT,D NA substitution DR2:NM_001014796 :exon6:c.229_230TT SELE:NM_000450:e nonframeshift xon9:c.1435_1436A substitution A PAPPA2:NM_02031 8:exon2:c.708_709A nonframeshift A,PAPPA2:NM_0219 substitution 36:exon2:c.708_709 AA PAPPA2:NM_02031 nonframeshift 8:exon20:c.5112_51 substitution 13AA BRINP3:NM_199051 nonframeshift :exon8:c.2028_2029 substitution TT NR5A2:NM_0012764 64:exon5:c.945_946 TT,NR5A2:NM_0038 nonframeshift 22:exon5:c.1023_10 substitution 24TT,NR5A2:NM_20 5860:exon6:c.1161_ 1162TT nonframeshift GPR25:NM_005298: substitution exon1:c.152_153TT nonframeshift NUAK2:NM_030952: substitution exon5:c.685_686TT OBSCN:NM_001098 623:exon28:c.7458_ 7459TA,OBSCN:NM nonframeshift _052843:exon28:c.7 substitution 458_7459TA,OBSC N:NM_001271223:ex on33:c.8745_8746T A MBOAT2:NM_13879 nonframeshift 9:exon10:c.1022_10 substitution 23AA KHK:NM_000221:ex nonframeshift on5:c.556_557AA,K KHK substitution HK:NM_006488:exo n5:c.556_557AA FANCL:NM_001114 636:exon2:c.111_11 nonframeshift FANCL 2TT,FANCL:NM_018 substitution 062:exon2:c.111_11 2TT USP34:NM_014709: nonframeshift USP34 exon80:c.10361_103 substitution 62TT RANBP2:NM_00626 nonframeshift RANBP2 7:exon28:c.9236_92 substitution 37AA AMER3:NM_001105 193:exon2:c.2074_2 075TT,AMER3:NM_ 001105194:exon2:c. nonframeshift 2074_2075TT,AMER AMER3 3:NM_001105195:ex substitution on2:c.2074_2075TT, AMER3:NM_152698: exon2:c.2074_2075T T TTN:NM_133378:ex on69:c.17285_17286 AA,TTN:NM_001256 nonframeshift TTN 850:exon70:c.20066 substitution _20067AA,TTN:NM_ 001267550:exon72:c .21017_21018AA nonframeshift NAB1:NM_005966:e NAB1 substitution xon4:c.186_187TT STAT1:NM_007315: nonframeshift STAT1 exon24:c.2187_2188 substitution AA PNKD:NM_022572:e nonframeshift xon6:c.682_683AA,P PNKD substitution NKD:NM_015488:ex on7:c.754_755AA nonframeshift SLC11A1:NM_00057 SLC11A1 substitution 8:exon2:c.19_20TT 9004330 CC TT MBOAT2 40% Index Negative MO_1160 2 225379441 225379442 CC TT CUL3 nonframeshift substitution Index Negative MO_1160 2 228399728 228399729 AG TA AGFG1 nonframeshift substitution Index Negative MO_1160 2 241710454 241710455 GG AA KIF1A nonframeshift substitution Index Negative MO_1160 3 CACNA2 D3 nonframeshift substitution Index Negative MO_1160 3 125843245 125843246 CC TT ALDH1L1 nonframeshift substitution 3 145806495 145806496 GG AA PLOD2 Index Negative MO_1160 55003838 55003839 GG AA Index Negative MO_1160 3 194063395 194063396 GG AA CPN2 Index Negative MO_1160 4 1165697 1165698 CC TT SPON2 Index Negative MO_1160 4 1980580 1980581 CC TT WHSC1 Index Negative MO_1160 4 25415985 25415986 CC TT ANAPC4 Index Negative MO_1160 4 38138841 38138842 CC TT TBC1D1 Index Negative MO_1160 4 41016311 41016312 GG AA APBB2 Index Negative MO_1160 4 119952123 119952124 GG AA SYNPO2 Index Negative MO_1160 4 162380409 162380410 CC TT FSTL5 CUL3:NM_00125719 7:exon3:c.228_229A A,CUL3:NM_001257 198:exon4:c.444_44 5AA,CUL3:NM_0035 90:exon4:c.426_427 AA AGFG1:NM_001135 189:exon7:c.1072_1 073TA,AGFG1:NM_ 001135188:exon8:c. 1192_1193TA,AGFG 1:NM_004504:exon8 :c.1192_1193TA,AG FG1:NM_001135187 :exon9:c.1264_1265 TA KIF1A:NM_004321:e xon13:c.1247_1248T T,KIF1A:NM_001244 008:exon15:c.1274_ 1275TT CACNA2D3:NM_018 398:exon29:c.2523_ 2524AA ALDH1L1:NM_00127 0365:exon14:c.1546 _1547AA,ALDH1L1: NM_001270364:exo n16:c.1879_1880AA, ALDH1L1:NM_01219 0:exon16:c.1849_18 50AA NA NA NA 122 0 0% 129 72 35.82% NA NA NA 125 0 0% 131 66 33.50% NA NA NA 229 0 0% 216 116 34.94% NA NA NA 397 0 0% 160 182 53.22% NA NA NA 292 0 0% 260 259 49.90% PLOD2:NM_000935: nonframeshift exon9:c.882_883TT, NA substitution PLOD2:NM_182943: exon9:c.882_883TT NA NA 45 0 0% 65 21 24.42% NA NA 524 1 0.19% 167 462 73.45% NA NA 345 0 0% 321 138 30.07% NA NA 217 0 0% 179 105 36.97% NA NA 24 0 0% 34 12 26.09% NA NA 243 1 0.41% 217 103 32.19% NA NA 391 0 0% 336 179 34.76% NA NA 303 0 0% 150 175 53.85% NA NA 113 0 0% 46 45 49.45% CPN2:NM_00108051 nonframeshift 3:exon2:c.36_37TT, NA substitution CPN2:NM_00129198 8:exon2:c.36_37TT SPON2:NM_012445: exon2:c.162_163AA, SPON2:NM_001128 nonframeshift 325:exon3:c.162_16 NA substitution 3AA,SPON2:NM_00 1199021:exon4:c.16 2_163AA WHSC1:NM_001042 424:exon22:c.4042_ 4043TT,WHSC1:NM _133335:exon22:c.4 nonframeshift 042_4043TT,WHSC NA substitution 1:NM_133331:exon2 3:c.4042_4043TT,W HSC1:NM_133330:e xon24:c.4042_4043T T ANAPC4:NM_00128 6756:exon23:c.1666 nonframeshift _1667TT,ANAPC4:N NA substitution M_013367:exon23:c. 1663_1664TT TBC1D1:NM_00125 3915:exon4:c.428_4 29TT,TBC1D1:NM_0 01253913:exon6:c.6 83_684TT,TBC1D1: nonframeshift NM_001253914:exo NA substitution n6:c.683_684TT,TB C1D1:NM_015173:e xon20:c.3392_3393T T,TBC1D1:NM_0012 53912:exon21:c.336 5_3366TT APBB2:NM_0011660 50:exon6:c.123_124 TT,APBB2:NM_0043 nonframeshift 07:exon6:c.123_124 NA substitution TT,APBB2:NM_1730 75:exon6:c.123_124 TT SYNPO2:NM_00112 8933:exon4:c.2193_ 2194AA,SYNPO2:N M_001128934:exon4 nonframeshift :c.2193_2194AA,SY NA substitution NPO2:NM_0012867 54:exon4:c.2100_21 01AA,SYNPO2:NM_ 133477:exon4:c.219 3_2194AA FSTL5:NM_0011284 28:exon13:c.1640_1 641AA,FSTL5:NM_0 nonframeshift 01128427:exon14:c. NA substitution 1667_1668AA,FSTL 5:NM_020116:exon1 4:c.1670_1671AA Index Negative MO_1160 5 31526758 31526759 GG AA DROSHA nonframeshift substitution Index Negative MO_1160 5 36986157 36986158 CC TT NIPBL nonframeshift substitution Index Negative MO_1160 5 37318126 37318127 GG AA NUP155 nonframeshift substitution Index Negative MO_1160 5 64595860 64595861 GG AA Index Negative MO_1160 5 72189291 72189292 GG AA TNPO1 Index Negative MO_1160 5 101599394 101599395 CC TT SLCO4C1 nonframeshift substitution Index Negative MO_1160 5 131670431 131670432 AC TT SLC22A4 nonframeshift substitution Index Negative MO_1160 5 137525409 137525410 GG AA CDC23 nonframeshift substitution Index Negative MO_1160 ANKHD1, nonframeshift 5 139909351 139909352 CC TT ANKHD1substitution EIF4EBP3 Index Negative MO_1160 5 140073846 140073847 CC TT HARS2 Index Negative MO_1160 5 140711826 140711827 CC TT Index Negative MO_1160 5 159344388 159344389 GG AA ADRA1B nonframeshift substitution Index Negative MO_1160 5 176812755 176812756 GG AA SLC34A1 nonframeshift substitution Index Negative MO_1160 6 28269791 28269792 CC TT PGBD1 nonframeshift substitution Index Negative MO_1160 6 30630441 30630442 GG AA DHX16 nonframeshift substitution Index Negative MO_1160 6 54025382 54025383 GG AA MLIP nonframeshift substitution Index Negative MO_1160 6 90500021 90500022 CC TT MDN1 nonframeshift substitution Index Negative MO_1160 6 119245078 119245079 GG AT MCM9 nonframeshift substitution Index Negative MO_1160 7 4841346 4841347 CC TT RADIL nonframeshift substitution Index Negative MO_1160 7 14613881 14613882 GG AA DGKB nonframeshift substitution Index Negative MO_1160 7 73151658 73151659 GG AA ABHD11 nonframeshift substitution Index Negative MO_1160 7 93555494 93555495 CC TT GNG11 nonframeshift substitution Index Negative MO_1160 7 103126802 103126803 GG AA RELN nonframeshift substitution Index Negative MO_1160 7 116774219 116774220 CC TT ST7 nonframeshift substitution ADAMTS nonframeshift 6 substitution nonframeshift substitution nonframeshift substitution PCDHGA nonframeshift 1 substitution DROSHA:NM_01323 5:exon4:c.281_282T T,DROSHA:NM_001 100412:exon5:c.281 _282TT NIPBL:NM_015384:e xon10:c.2875_2876T T,NIPBL:NM_133433 :exon10:c.2875_287 6TT NUP155:NM_001278 312:exon21:c.2268_ 2269TT,NUP155:NM _004298:exon21:c.2 091_2092TT,NUP15 5:NM_153485:exon2 1:c.2268_2269TT ADAMTS6:NM_1979 41:exon10:c.1321_1 322TT TNPO1:NM_002270: exon17:c.1984_1985 AA,TNPO1:NM_153 188:exon17:c.1960_ 1961AA SLCO4C1:NM_1809 91:exon4:c.892_893 AA SLC22A4:NM_00305 9:exon7:c.1067_106 8TT CDC23:NM_004661: exon15:c.1535_1536 TT ANKHD1:NM_01774 7:exon29:c.6820_68 21TT,ANKHD1EIF4EBP3:NM_0206 90:exon29:c.6820_6 821TT HARS2:NM_001278 731:exon3:c.305_30 6TT,HARS2:NM_012 208:exon4:c.380_38 1TT PCDHGA1:NM_0189 12:exon1:c.1575_15 76TT,PCDHGA1:NM _031993:exon1:c.15 75_1576TT ADRA1B:NM_00067 9:exon1:c.476_477A A SLC34A1:NM_00116 7579:exon2:c.13_14 AA,SLC34A1:NM_00 3052:exon2:c.13_14 AA PGBD1:NM_001184 743:exon7:c.2160_2 161TT,PGBD1:NM_ 032507:exon7:c.216 0_2161TT DHX16:NM_0011642 39:exon9:c.1326_13 27TT,DHX16:NM_00 3587:exon9:c.1506_ 1507TT MLIP:NM_138569:ex on6:c.819_820AA,M LIP:NM_001281746: exon7:c.2391_2392A A,MLIP:NM_001281 747:exon7:c.2424_2 425AA MDN1:NM_014611:e xon6:c.954_955AA MCM9:NM_017696:e xon2:c.518_519AT, MCM9:NM_153255:e xon3:c.518_519AT RADIL:NM_018059:e xon12:c.2779_2780A A DGKB:NM_004080:e xon19:c.1728_1729T T,DGKB:NM_145695 :exon19:c.1728_172 9TT ABHD11:NM_14891 2:exon4:c.525_526T T,ABHD11:NM_1489 13:exon4:c.504_505 TT GNG11:NM_004126: exon2:c.188_189TT RELN:NM_005045:e xon61:c.9824_9825T T,RELN:NM_173054 :exon61:c.9824_982 5TT ST7:NM_021908:exo n7:c.683_684TT NA NA NA 112 0 0% 96 56 36.84% NA NA NA 93 0 0% 127 62 32.80% NA NA NA 103 0 0% 138 49 26.20% NA NA NA 125 0 0% 102 55 35.03% NA NA NA 61 0 0% 101 39 27.86% NA NA NA 102 0 0% 102 52 33.77% NA NA NA 234 0 0% 218 108 33.13% NA NA NA 173 0 0% 173 73 29.67% NA NA NA 204 0 0% 189 73 27.86% NA NA NA 140 0 0% 149 101 40.40% NA NA NA 752 0 0% 572 278 32.71% NA NA NA 467 0 0% 420 203 32.58% NA NA NA 635 0 0% 544 295 35.16% NA NA NA 339 1 0.29% 349 177 33.65% NA NA NA 196 0 0% 179 97 35.14% NA NA NA 144 0 0% 120 72 37.50% NA NA NA 139 0 0% 138 52 27.37% NA NA NA 227 0 0% 249 122 32.88% NA NA NA 77 0 0% 31 33 51.56% NA NA NA 104 0 0% 44 57 56.44% NA NA NA 422 1 0.24% 431 211 32.87% NA NA NA 93 0 0% 110 45 29.03% NA NA NA 279 0 0% 237 98 29.25% NA NA NA 94 0 0% 96 41 29.93% Index Index Negative MO_1160 Negative MO_1160 7 150028182 150028183 CC TT ZBED6CL ZBED6CL:NM_1384 nonframeshift 34:exon1:c.689_690 NA substitution TT NA NA 254 0 0% 222 119 34.90% 7 150733222 150733223 CC TT ABCB8 ABCB8:NM_001282 293:exon7:c.812_81 3TT,ABCB8:NM_001 282292:exon8:c.107 nonframeshift 6_1077TT,ABCB8:N NA substitution M_007188:exon8:c.1 076_1077TT,ABCB8 :NM_001282291:exo n9:c.1127_1128TT NA NA 540 0 0% 440 223 33.63% NA NA 211 0 0% 168 105 38.46% NA NA 695 0 0% 525 264 33.46% NA NA 403 0 0% 355 155 30.39% NA NA NA 246 0 0% 251 110 30.47% NA NA NA 207 0 0% 209 107 33.86% NA NA NA 174 1 0.57% 147 82 35.81% NA NA NA 96 0 0% 91 57 38.51% NA NA NA 120 0 0% 110 58 34.52% NA NA NA 138 0 0% 170 76 30.89% NA NA NA 314 1 0.32% 325 203 38.45% NA NA NA 106 0 0% 99 54 35.29% NA NA NA 109 0 0% 132 50 27.47% NA NA NA 215 0 0% 180 105 36.84% NA NA NA 335 0 0% 281 157 35.84% NA NA NA 254 0 0% 276 128 31.68% NA NA NA 302 0 0% 312 146 31.88% NA NA NA 466 0 0% 438 232 34.63% NA NA NA 455 1 0.22% 394 172 30.39% NA NA NA 240 0 0% 106 267 71.58% NA NA NA 459 0 0% 167 465 73.58% Index Negative MO_1160 7 150774747 150774748 GG AA FASTK Index Negative MO_1160 8 8176635 8176636 CC TT SGK223 FASTK:NM_033015: exon5:c.736_737TT, FASTK:NM_0012584 nonframeshift 61:exon6:c.1078_10 NA substitution 79TT,FASTK:NM_00 6712:exon6:c.1159_ 1160TT SGK223:NM_001080 nonframeshift 826:exon5:c.3249_3 NA substitution 250AA DLC1:NM_00116427 1:exon5:c.344_345T nonframeshift T,DLC1:NM_006094: NA substitution exon5:c.566_567TT, DLC1:NM_182643:e xon9:c.1877_1878TT Index Negative MO_1160 8 12957968 12957969 GG AA DLC1 Index Negative MO_1160 8 23225844 23225845 GG AA LOXL2 Index Negative MO_1160 8 25745428 25745429 AC CT EBF2 Index Negative MO_1160 8 39771464 39771465 CC TT IDO1 Index Negative MO_1160 8 53076577 53076578 GG AA ST18 nonframeshift substitution Index Negative MO_1160 8 53569526 53569527 GG AA RB1CC1 nonframeshift substitution Index Negative MO_1160 8 72156906 72156907 GG AA EYA1 nonframeshift substitution Index Negative MO_1160 8 81399346 81399347 GG AA ZBTB10 nonframeshift substitution Index Negative MO_1160 8 110451161 110451162 GG AA PKHD1L1 nonframeshift substitution Index Negative MO_1160 8 113662442 113662443 GG AA CSMD3 nonframeshift substitution Index Negative MO_1160 8 139164906 139164907 GG AA FAM135B nonframeshift substitution Index Negative MO_1160 8 143746433 143746434 GG AA JRK nonframeshift substitution Index Negative MO_1160 8 145656489 145656490 CC TT TONSL nonframeshift substitution Index Negative MO_1160 9 33294630 33294631 CC TT NFX1 nonframeshift substitution Index Negative MO_1160 9 35754089 35754090 CC TT MSMP nonframeshift substitution Index Negative MO_1160 9 38395848 38395849 CC TT ALDH1B1 nonframeshift substitution Index Negative MO_1160 9 101594193 101594194 CC TT GALNT12 nonframeshift substitution Index Negative MO_1160 9 103054983 103054984 GG AA INVS nonframeshift substitution nonframeshift substitution nonframeshift substitution nonframeshift substitution LOXL2:NM_002318: exon2:c.20_21TT EBF2:NM_022659:e xon9:c.811_812AG IDO1:NM_002164:ex on1:c.23_24TT ST18:NM_014682:ex on13:c.1368_1369T T RB1CC1:NM_00108 3617:exon15:c.2862 _2863TT,RB1CC1:N M_014781:exon15:c. 2862_2863TT EYA1:NM_172060:e xon10:c.972_973TT, EYA1:NM_172058:e xon11:c.1071_1072T T,EYA1:NM_000503: exon12:c.1071_1072 TT,EYA1:NM_00128 8574:exon12:c.1053 _1054TT,EYA1:NM_ 001288575:exon12:c .705_706TT ZBTB10:NM_001105 539:exon1:c.301_30 2AA,ZBTB10:NM_02 3929:exon1:c.301_3 02AA PKHD1L1:NM_1775 31:exon32:c.3796_3 797AA CSMD3:NM_052900: exon18:c.2828_2829 TT,CSMD3:NM_198 123:exon19:c.3140_ 3141TT,CSMD3:NM _198124:exon20:c.3 020_3021TT FAM135B:NM_0159 12:exon13:c.1811_1 812TT JRK:NM_001077527 :exon2:c.1044_1045 TT,JRK:NM_001279 352:exon2:c.1044_1 045TT,JRK:NM_003 724:exon2:c.1044_1 045TT TONSL:NM_013432: exon24:c.3780_3781 AA NFX1:NM_002504:e xon2:c.238_239TT,N FX1:NM_147133:exo n2:c.238_239TT,NF X1:NM_147134:exon 2:c.238_239TT MSMP:NM_0010442 64:exon1:c.37_38AA ALDH1B1:NM_0006 92:exon2:c.103_104 TT GALNT12:NM_0246 42:exon4:c.871_872 TT INVS:NM_014425:ex on14:c.2444_2445A A Index Negative MO_1160 9 135447804 135447805 GG AA C9orf171 nonframeshift substitution Index Negative MO_1160 9 140946603 140946604 GG AA CACNA1B nonframeshift substitution Index Negative MO_1160 10 Index Negative MO_1160 10 122662585 122662586 GG AA WDR11 nonframeshift substitution Index Negative MO_1160 10 129868638 129868639 CC TT PTPRE nonframeshift substitution Index Negative MO_1160 11 34118060 34118061 CC TT CAPRIN1 nonframeshift substitution Index Negative MO_1160 11 57569613 57569614 CC TT CTNND1 nonframeshift substitution Index Negative MO_1160 11 62159715 62159716 GG AA ASRGL1 nonframeshift substitution Index Negative MO_1160 11 62300682 62300683 GG AA AHNAK nonframeshift substitution Index Negative MO_1160 11 62550266 62550267 CC TT TAF6L nonframeshift substitution Index Negative MO_1160 11 64136974 64136975 CC TT RPS6KA4 nonframeshift substitution Index Negative MO_1160 11 66009027 66009028 CC TT PACS1 nonframeshift substitution Index Negative MO_1160 11 66240847 66240848 CC TT PELI3 nonframeshift substitution Index Negative MO_1160 11 66299490 66299491 GG AA BBS1 nonframeshift substitution Index Negative MO_1160 11 68564383 68564384 CC TT CPT1A nonframeshift substitution Index Negative MO_1160 11 92620172 92620173 GG AA FAT3 nonframeshift substitution Index Negative MO_1160 11 118485333 118485334 CC TT PHLDB1 15262978 15262979 CC TT FAM171A nonframeshift 1 substitution nonframeshift substitution C9orf171:NM_00128 2957:exon6:c.762_7 63AA,C9orf171:NM_ 207417:exon7:c.870 _871AA CACNA1B:NM_0007 18:exon25:c.3770_3 771AA,CACNA1B:N M_001243812:exon2 5:c.3770_3771AA FAM171A1:NM_001 010924:exon6:c.835 _836AA WDR11:NM_018117 :exon23:c.2772_277 3AA PTPRE:NM_130435: exon11:c.1043_1044 TT,PTPRE:NM_0065 04:exon14:c.1217_1 218TT CAPRIN1:NM_00589 8:exon16:c.1740_17 41TT,CAPRIN1:NM_ 203364:exon16:c.17 40_1741TT CTNND1:NM_00108 5469:exon4:c.1062_ 1063TT,CTNND1:N M_001085463:exon5 :c.1062_1063TT,CT NND1:NM_0010854 64:exon5:c.1062_10 63TT,CTNND1:NM_ 001085465:exon5:c. 1062_1063TT,CTNN D1:NM_001085466:e xon5:c.1062_1063TT ,CTNND1:NM_00108 5467:exon5:c.1062_ 1063TT,CTNND1:N M_001085468:exon5 :c.1062_1063TT,CT NND1:NM_0012068 90:exon5:c.1062_10 63TT,CTNND1:NM_ 001085462:exon6:c. 1365_1366TT,CTNN D1:NM_001206883:e xon6:c.1203_1204TT ,CTNND1:NM_00120 6884:exon6:c.1203_ 1204TT,CTNND1:N M_001206886:exon6 :c.1203 1204TT,CT ASRGL1:NM_00108 3926:exon7:c.886_8 87AA,ASRGL1:NM_ 025080:exon7:c.886 _887AA AHNAK:NM_001620: exon5:c.1206_1207T T TAF6L:NM_006473: exon9:c.929_930TT RPS6KA4:NM_0010 06944:exon13:c.146 7_1468TT,RPS6KA4 :NM_003942:exon13 :c.1485_1486TT PACS1:NM_018026: exon22:c.2559_2560 TT PELI3:NM_0012431 36:exon4:c.271_272 TT,PELI3:NM_00109 8510:exon5:c.520_5 21TT,PELI3:NM_001 243135:exon5:c.403 _404TT,PELI3:NM_1 45065:exon6:c.592_ 593TT BBS1:NM_024649:e xon17:c.1764_1765A A CPT1A:NM_0010318 47:exon7:c.711_712 AA,CPT1A:NM_0018 76:exon7:c.711_712 AA FAT3:NM_00100878 1:exon24:c.12944_1 2945AA PHLDB1:NM_00114 4758:exon3:c.120_1 21TT,PHLDB1:NM_0 01144759:exon3:c.1 20_121TT,PHLDB1: NM_015157:exon4:c .120_121TT NA NA NA 56 0 0% 20 72 78.26% NA NA NA 270 0 0% 106 293 73.43% NA NA NA 302 0 0% 94 151 61.63% NA NA NA 119 0 0% 43 75 63.56% NA NA NA 484 0 0% 163 172 51.34% NA NA NA 171 0 0% 76 102 57.30% NA NA NA 323 2 0.62% 303 166 35.39% NA NA NA 328 0 0% 332 139 29.51% NA NA NA 132 0 0% 130 93 41.70% NA NA NA 276 0 0% 264 162 38.03% NA NA NA 396 0 0% 287 164 36.36% NA NA NA 189 0 0% 176 104 37.14% NA NA NA 385 0 0% 302 168 35.74% NA NA NA 128 0 0% 120 73 37.82% NA NA NA 177 0 0% 152 76 33.33% NA NA NA 115 1 0.86% 154 55 26.32% NA NA NA 485 0 354 180 33.71% 0% Index Negative MO_1160 11 118984330 118984331 CC TT C2CD2L nonframeshift substitution Index Negative MO_1160 11 119230276 119230277 CC TT USP2 nonframeshift substitution Index Negative MO_1160 11 130319078 130319079 GG AA Index Negative MO_1160 12 4737378 Index Negative MO_1160 12 12334100 12334101 AG GA LRP6 nonframeshift substitution Index Negative MO_1160 12 49162732 49162733 GG AA ADCY6 nonframeshift substitution Index Negative MO_1160 12 57175772 57175773 GG AA HSD17B6 nonframeshift substitution Index Negative MO_1160 12 100994217 100994218 GG AA GAS2L3 nonframeshift substitution Index Negative MO_1160 12 121434506 121434507 CC TT HNF1A nonframeshift substitution Index Negative MO_1160 12 124383303 124383304 GG AA DNAH10 nonframeshift substitution Index Negative MO_1160 12 133234523 133234524 GG AA POLE nonframeshift substitution Index Negative MO_1160 14 21560254 21560255 CC TT ZNF219 nonframeshift substitution Index Negative MO_1160 14 21793024 21793025 GG AA RPGRIP1 nonframeshift substitution Index Negative MO_1160 14 24877523 Index Negative MO_1160 14 58604974 Index Negative MO_1160 14 59970654 C2CD2L:NM_00129 0474:exon11:c.1397 _1398TT,C2CD2L:N M_014807:exon11:c. 1397_1398TT USP2:NM_00124375 9:exon3:c.190_191A A,USP2:NM_171997 :exon3:c.292_293AA ,USP2:NM_004205:e xon4:c.919_920AA ADAMTS15:NM_139 055:exon1:c.210_21 1AA AKAP3:NM_0012783 09:exon5:c.689_690 AC,AKAP3:NM_0064 22:exon5:c.689_690 AC LRP6:NM_002336:e xon6:c.1249_1250T C ADCY6:NM_015270: exon20:c.3368_3369 TT,ADCY6:NM_0209 83:exon20:c.3209_3 210TT HSD17B6:NM_0037 25:exon3:c.328_329 AA GAS2L3:NM_174942 :exon4:c.76_77AA HNF1A:NM_000545: exon6:c.1270_1271T T DNAH10:NM_20743 7:exon55:c.9228_92 29AA POLE:NM_006231:e xon27:c.3308_3309T T ZNF219:NM_001101 672:exon3:c.1201_1 202AA,ZNF219:NM_ 001102454:exon3:c. 1201_1202AA,ZNF2 19:NM_016423:exon 3:c.1201_1202AA RPGRIP1:NM_0203 66:exon14:c.2010_2 011AA NA NA NA 58 0 0% 65 33 33.67% NA NA NA 215 0 0% 210 92 30.46% NA NA NA 329 0 0% 300 161 34.92% NA NA NA 279 1 0.36% 124 166 57.24% NA NA NA 447 0 0% 157 227 59.11% NA NA NA 108 0 0% 115 71 38.17% NA NA NA 101 0 0% 127 76 37.44% NA NA NA 161 0 0% 185 100 35.09% NA NA NA 307 0 0% 260 125 32.47% NA NA NA 159 0 0% 126 81 39.13% NA NA NA 100 0 0% 114 68 37.36% NA NA NA 128 0 0% 128 90 41.28% NA NA NA 674 0 0% 564 313 35.69% 24877524 CC TT NYNRIN nonframeshift NYNRIN:NM_025081 NA substitution :exon3:c.647_648TT NA NA 352 1 0.28% 325 164 33.54% 58604975 CC TT C14orf37 C14orf37:NM_00100 nonframeshift 1872:exon2:c.1102_ NA substitution 1103AA NA NA 453 0 0% 363 194 34.83% 59970655 CC TT JKAMP JKAMP:NM_001098 625:exon7:c.782_78 3TT,JKAMP:NM_001 284201:exon7:c.842 _843TT,JKAMP:NM_ nonframeshift 001284203:exon7:c. NA substitution 611_612TT,JKAMP: NM_016475:exon7:c .800_801TT,JKAMP: NM_001284202:exo n8:c.824_825TT NA NA 171 0 0% 178 89 33.33% NA NA NA 67 0 0% 56 25 30.86% NA NA NA 276 0 0% 294 114 27.94% NA NA NA 249 1 0.40% 219 94 30.03% NA NA NA 147 0 0% 142 76 34.86% NA NA NA 151 0 0% 64 66 50.77% NA NA NA 120 0 0% 40 69 63.30% ADAMTS nonframeshift 15 substitution 4737379 TG GT AKAP3 nonframeshift substitution nonframeshift substitution Index Negative MO_1160 14 71063337 71063338 GG AA MED6 Index Negative MO_1160 14 94912840 94912841 CC TT Index Negative MO_1160 14 95905401 95905402 GG AA SYNE3 Index Negative MO_1160 14 101004947 101004948 GG AA BEGAIN nonframeshift substitution Index Negative MO_1160 15 42442573 42442574 CC TT PLA2G4F nonframeshift substitution Index Negative MO_1160 15 52901693 52901694 GG AA FAM214A nonframeshift substitution SERPINA nonframeshift 11 substitution nonframeshift substitution MED6:NM_0012842 09:exon3:c.264_265 TT,MED6:NM_00128 4210:exon3:c.264_2 65TT,MED6:NM_001 284211:exon3:c.264 _265TT,MED6:NM_0 05466:exon3:c.264_ 265TT SERPINA11:NM_00 1080451:exon3:c.74 4_745AA SYNE3:NM_152592: exon13:c.2344_2345 TT BEGAIN:NM_001159 531:exon6:c.1140_1 141TT,BEGAIN:NM_ 020836:exon7:c.114 0_1141TT PLA2G4F:NM_2136 00:exon9:c.882_883 AA FAM214A:NM_0012 86495:exon5:c.1438 _1439TT,FAM214A: NM_019600:exon6:c .1417_1418TT Index Negative MO_1160 15 83434729 83434730 CC TT FSD2 Index Negative MO_1160 15 89401057 89401058 GG AA ACAN Index Negative MO_1160 16 839032 FSD2:NM_00128180 6:exon9:c.1472_147 3AA,FSD2:NM_0010 nonframeshift 07122:exon10:c.160 NA substitution 7_1608AA,FSD2:NM _001281805:exon10: c.1472_1473AA ACAN:NM_001135:e xon12:c.5241_5242A nonframeshift A,ACAN:NM_013227 NA substitution :exon12:c.5241_524 2AA NA NA 106 0 0% 90 40 30.77% NA NA 420 1 0.24% 419 201 32.42% 839033 CC TT CHTF18 nonframeshift CHTF18:NM_022092 NA substitution :exon2:c.193_194TT NA NA 136 0 0% 101 81 44.51% CACNA1 H CACNA1H:NM_0010 05407:exon9:c.1939 nonframeshift _1940AA,CACNA1H: NA substitution NM_021098:exon9:c .1939_1940AA NA NA 745 0 0% 620 336 35.15% nonframeshift SLX4:NM_032444:ex NA substitution on8:c.1684_1685AA NA NA 352 0 0% 284 118 29.35% NA NA NA 238 0 0% 243 148 37.85% NA NA NA 61 0 0% 49 23 31.94% NA NA NA 349 0 0% 351 163 31.71% NA NA NA 325 0 0% 298 145 32.73% NA NA NA 116 0 0% 121 82 40.39% NA NA NA 291 0 0% 83 128 60.66% NA NA NA 259 1 0.38% 254 144 36.18% NA NA NA 397 0 0% 373 182 32.79% NA NA NA 264 0 0% 276 133 32.52% NA NA NA 144 0 0% 106 68 39.08% NA NA NA 354 0 0% 326 172 34.54% Index Negative MO_1160 16 1252389 1252390 GG AA Index Negative MO_1160 16 3646393 3646394 CC TT SLX4 Index Negative MO_1160 16 4625828 4625829 CC TT Index Negative MO_1160 16 20844340 20844341 GG AA Index Negative MO_1160 16 26147380 26147381 CC TT Index Negative MO_1160 16 29708712 29708713 CC TT Index Negative MO_1160 16 31477976 31477977 CC TT Index Negative MO_1160 17 11778288 11778289 CC TT Index Negative MO_1160 17 36482709 36482710 CC TT Index Negative MO_1160 17 37566782 37566783 GG AA Index Negative MO_1160 17 40062846 40062847 GG AA Index Negative MO_1160 17 46058012 46058013 CC TT Index Negative MO_1160 17 47284169 47284170 GG AA C16orf96:NM_00114 nonframeshift C16orf96 5011:exon5:c.1347_ substitution 1348TT LOC81691:NM_0011 44924:exon13:c.127 8_1279AA,LOC8169 LOC8169 nonframeshift 1:NM_001199053:ex 1 substitution on13:c.1278_1279A A,LOC81691:NM_03 0941:exon13:c.1278 _1279AA HS3ST4:NM_006040 nonframeshift HS3ST4 :exon2:c.1182_1183 substitution TT nonframeshift QPRT:NM_014298:e QPRT substitution xon4:c.874_875TT ARMC5:NM_001105 247:exon6:c.2574_2 nonframeshift ARMC5 575TT,ARMC5:NM_ substitution 001288767:exon8:c. 2859_2860TT DNAH9:NM_001372: nonframeshift DNAH9 exon53:c.10265_102 substitution 66TT GPR179:NM_00100 nonframeshift GPR179 4334:exon11:c.6742 substitution _6743AA MED1:NM_004774:e nonframeshift MED1 xon17:c.1691_1692T substitution T ACLY:NM_001096:e nonframeshift xon8:c.800_801TT,A ACLY substitution CLY:NM_198830:ex on8:c.800_801TT CDK5RAP3:NM_001 278198:exon10:c.45 6_457TT,CDK5RAP 3:NM_001278216:ex on10:c.456_457TT,C DK5RAP3:NM_0012 CDK5RAP nonframeshift 78217:exon11:c.870 3 substitution _871TT,CDK5RAP3: NM_001278197:exo n12:c.1206_1207TT, CDK5RAP3:NM_176 096:exon12:c.1131_ 1132TT GNGT2:NM_001198 754:exon4:c.159_16 0TT,GNGT2:NM_00 1198755:exon4:c.15 nonframeshift GNGT2 9_160TT,GNGT2:N substitution M_001198756:exon4 :c.159_160TT,GNGT 2:NM_031498:exon4 :c.159_160TT CACNA1 G Index Negative MO_1160 17 48678432 48678433 GG AA Index Negative MO_1160 17 60088411 60088412 GT AA MED13 Index Negative MO_1160 17 72613449 72613450 CC TT CD300E Index Negative MO_1160 17 78178894 78178895 GG AA CARD14 Index Negative MO_1160 17 80525961 80525962 Index Negative MO_1160 18 10454983 10454984 Index Negative MO_1160 18 31250667 31250668 Index Negative MO_1160 18 56414708 56414709 Index Negative MO_1160 18 72247419 72247420 Index Negative MO_1160 19 5914441 5914442 Index Negative MO_1160 19 10204102 10204103 Index Negative MO_1160 19 36883896 36883897 Index Negative MO_1160 19 38865364 38865365 Index Negative MO_1160 19 38931449 Index Negative MO_1160 19 42584693 Index Negative MO_1160 19 42880475 Index Negative MO_1160 19 48198277 Index Negative MO_1160 19 49376778 Index Negative MO_1160 19 55823290 Index Negative MO_1160 20 2573027 Index Negative MO_1160 20 17599268 Index Negative MO_1160 20 31022534 Index Negative MO_1160 20 33334634 CACNA1G:NM_0012 56332:exon18:c.374 3_3744AA,CACNA1 G:NM_198376:exon1 8:c.3743_3744AA,C ACNA1G:NM_19837 9:exon18:c.3743_37 44AA,CACNA1G:NM _198382:exon18:c.3 743_3744AA,CACN A1G:NM_198383:ex on18:c.3743_3744A A,CACNA1G:NM_19 8387:exon18:c.3743 nonframeshift _3744AA,CACNA1G: NA substitution NM_198388:exon18: c.3743_3744AA,CA CNA1G:NM_198396: exon18:c.3743_3744 AA,CACNA1G:NM_0 01256324:exon19:c. 3812_3813AA,CACN A1G:NM_001256325 :exon19:c.3812_381 3AA,CACNA1G:NM_ 001256326:exon19:c .3812_3813AA,CAC NA1G:NM_0012563 27:exon19:c.3812 3 MED13:NM_005121: nonframeshift exon9:c.1466_1467T NA substitution T NA NA 675 1 0.15% 583 303 34.20% NA NA 327 0 0% 326 143 30.49% NA NA 714 0 0% 623 323 34.14% NA NA NA 184 1 0.54% 138 92 NA NA NA 107 0 0% 100 44 30.56% NA NA NA 88 0 0% 80 42 34.43% NA NA NA 76 0 0% 60 35 36.84% NA NA NA 164 0 0% 165 68 29.18% NA NA NA 113 0 0% 88 58 39.73% NA NA NA 687 1 0.15% 233 301 56.37% NA NA NA 466 0 0% 168 203 54.72% NA NA NA 181 0 0% 183 110 37.54% NA NA NA 187 0 0% 207 103 33.23% RYR1:NM_000540:e nonframeshift xon2:c.110_111TT,R NA substitution YR1:NM_001042723 :exon2:c.110_111TT NA NA 108 0 0% 114 49 30.06% NA NA NA 711 2 0.28% 537 303 36.07% NA NA NA 632 0 0% 528 299 36.15% NA NA NA 176 0 0% 152 101 39.92% NA NA NA 343 1 0.29% 353 177 33.40% NA NA NA 103 0 0% 102 58 36.25% NA NA NA 144 0 0% 125 62 33.16% NA NA NA 75 0 0% 80 50 38.46% NA NA NA 416 0 0% 324 178 35.46% NA NA NA 50 0 0% 38 21 35.59% nonframeshift CD300E:NM_181449 NA substitution :exon2:c.195_196AA CARD14:NM_02411 nonframeshift 0:exon18:c.2459_24 substitution 60AA nonframeshift FOXK2:NM_004514: GG AA FOXK2 substitution exon3:c.646_647AA nonframeshift APCDD1:NM_15300 CC GT APCDD1 substitution 0:exon1:c.5_6GT nonframeshift ASXL3:NM_030632: GG AA ASXL3 substitution exon6:c.508_509AA MALT1:NM_173844: exon16:c.2076_2077 nonframeshift GG AA MALT1 AA,MALT1:NM_0067 substitution 85:exon17:c.2109_2 110AA CNDP1:NM_032649: nonframeshift GG AA CNDP1 exon10:c.1221_1222 substitution AA CAPS:NM_004058:e nonframeshift xon2:c.24_25AA,CA GG AA CAPS substitution PS:NM_080590:exon 2:c.24_25AA ANGPTL6:NM_0319 nonframeshift CC TT ANGPTL6 17:exon5:c.1144_11 substitution 45AA ZFP82:NM_133466: nonframeshift GG AA ZFP82 exon5:c.1345_1346T substitution T nonframeshift PSMD8:NM_002812: CC TT PSMD8 substitution exon1:c.123_124TT 38931450 CC TT RYR1 ZNF574:NM_022752 nonframeshift 42584694 CC TT ZNF574 :exon2:c.1935_1936 substitution TT MEGF8:NM_001410: exon41:c.7885_7886 nonframeshift 42880476 CC TT MEGF8 TT,MEGF8:NM_001 substitution 271938:exon42:c.80 86_8087TT GLTSCR1:NM_0157 nonframeshift 48198278 CC TT GLTSCR1 11:exon9:c.3016_30 substitution 17TT PPP1R15A:NM_014 PPP1R15 nonframeshift 49376779 GG AA 330:exon2:c.288_28 A substitution 9AA BRSK1:NM_032430: nonframeshift 55823291 GG AA BRSK1 exon19:c.2191_2192 substitution AA nonframeshift TMC2:NM_080751:e 2573028 GG AA TMC2 substitution xon8:c.906_907AA RRBP1:NM_004587: exon20:c.2432_2433 nonframeshift 17599269 GG AA RRBP1 TT,RRBP1:NM_0010 substitution 42576:exon21:c.243 2_2433TT ASXL1:NM_015338: nonframeshift 31022535 CC TT ASXL1 exon12:c.2019_2020 substitution TT NCOA6:NM_001242 539:exon10:c.2890_ nonframeshift 33334635 GG AA NCOA6 2891TT,NCOA6:NM substitution _014071:exon10:c.2 890_2891TT 40% Index Negative MO_1160 20 43129012 SERINC3:NM_00681 1:exon10:c.1346_13 nonframeshift 43129013 GG AA SERINC3 47TT,SERINC3:NM_ NA substitution 198941:exon10:c.13 46_1347TT Index Negative MO_1160 20 62421194 62421195 GG AA ZBTB46 NA NA 141 0 0% 150 78 34.21% nonframeshift ZBTB46:NM_025224 NA substitution :exon2:c.916_917TT NA NA 166 1 0.60% 137 71 34.13% NA NA NA 48 0% 67 21 23.86% NA NA NA 362 1 0.28% 275 119 30.20% NA NA NA 257 0 0% 159 103 39.31% NA NA NA 364 0 0% 280 162 36.65% NA NA NA 318 0 0% 307 129 29.59% NA NA NA 270 0 0% 197 101 33.89% NA NA NA 283 0 0% 265 164 38.23% NA NA NA 623 0 0% 465 211 31.21% NA NA NA 226 0 0% 156 80 33.90% NA NA NA 144 0 0% 72 186 72.09% NA NA NA 237 0 0% 78 186 70.45% NA NA NA 192 0 0% 76 165 68.46% NA NA NA 38 0 0% 18 34 65.38% NA NA NA 411 0 0% 138 354 71.95% NA NA NA 69 0 0% 24 61 71.76% NA NA NA 40 0 0% 14 45 76.27% NA NA NA 42 0 0% 13 39 NA NA NA 23 0 0% 26 10 27.78% NA NA NA 28 0 0% 31 10 24.39% nonframeshift substitution Index Negative MO_1160 21 38512909 38512910 CC TT TTC3 Index Negative MO_1160 21 43809079 43809080 CC TT Index Negative MO_1160 21 45390643 45390644 GG AA AGPAT3 nonframeshift substitution Index Negative MO_1160 22 19750863 19750864 CC TT TBX1 nonframeshift substitution Index Negative MO_1160 22 22288539 22288540 GG AA PPM1F nonframeshift substitution Index Negative MO_1160 22 30824514 30824515 CC TT MTFP1 nonframeshift substitution Index Negative MO_1160 22 37533654 37533655 CC TT IL2RB nonframeshift substitution Index Negative MO_1160 22 41742059 41742060 CC TT ZC3H7B nonframeshift substitution Index Negative MO_1160 22 50722564 50722565 GG AA PLXNB2 nonframeshift substitution Index Negative MO_1160 X 17768159 17768160 CC TT SCML1 nonframeshift substitution Index Negative MO_1160 X 53265637 53265638 GG AA IQSEC2 nonframeshift substitution Index Negative MO_1160 X 53457858 53457859 GG AA RIBC1 nonframeshift substitution Index Negative MO_1160 X 99921892 99921893 CC TT SRPX2 nonframeshift substitution Index Negative MO_1160 X 104464773 104464774 GG AA TEX13A Index Negative MO_1160 X 105278286 105278287 GG AA SERPINA nonframeshift 7 substitution Index Negative MO_1160 X 128624124 128624125 GG AA SMARCA nonframeshift 1 substitution Index Negative MO_1160 X 140785839 140785840 GG AA SPANXC, nonframeshift SPANXD substitution Index Negative MO_1160 2 10742960 C T NOL10 nonsynonymo us SNV Index Negative MO_1160 3 197574314 197574314 T A LRCH3 nonsynonymo us SNV 10742960 TMPRSS nonframeshift 3 substitution nonframeshift substitution TTC3:NM_00100189 4:exon20:c.1708_17 09TT,TTC3:NM_003 316:exon20:c.1708_ 1709TT TMPRSS3:NM_0012 56317:exon4:c.280_ 281AA,TMPRSS3:N M_024022:exon4:c.2 80_281AA,TMPRSS 3:NM_032405:exon4 :c.280_281AA AGPAT3:NM_00103 7553:exon5:c.620_6 21AA,AGPAT3:NM_ 020132:exon6:c.620 _621AA TBX1:NM_005992:e xon4:c.510_511TT,T BX1:NM_080646:exo n4:c.510_511TT,TB X1:NM_080647:exon 4:c.510_511TT PPM1F:NM_014634: exon4:c.414_415TT MTFP1:NM_001003 704:exon3:c.261_26 2TT,MTFP1:NM_016 498:exon4:c.494_49 5TT IL2RB:NM_000878:e xon6:c.509_510AA ZC3H7B:NM_01759 0:exon14:c.1512_15 13TT PLXNB2:NM_01240 1:exon13:c.2259_22 60TT SCML1:NM_001037 535:exon4:c.86_87T T,SCML1:NM_00103 7536:exon4:c.86_87 TT,SCML1:NM_0067 46:exon5:c.368_369 TT,SCML1:NM_0010 37540:exon6:c.449_ 450TT IQSEC2:NM_001111 125:exon13:c.3317_ 3318TT,IQSEC2:NM _015075:exon13:c.2 702_2703TT RIBC1:NM_0010317 45:exon8:c.1062_10 63AA SRPX2:NM_014467: exon8:c.923_924TT TEX13A:NM_001291 277:exon2:c.308_30 9TT,TEX13A:NM_03 1274:exon2:c.308_3 09TT SERPINA7:NM_000 354:exon4:c.983_98 4TT SMARCA1:NM_0012 82875:exon14:c.182 4_1825TT,SMARCA 1:NM_001282874:ex on15:c.1860_1861T T,SMARCA1:NM_00 3069:exon15:c.1860 _1861TT SPANXC:NM_02266 1:exon2:c.76_77TT, SPANXD:NM_03241 7:exon2:c.76_77TT NOL10:NM_0012613 92:exon15:c.G1196A :p.R399K,NOL10:NM _001261394:exon15: c.G1124A:p.R375K, NOL10:NM_024894: exon16:c.G1274A:p. R425K LRCH3:NM_032773: exon11:c.T1363A:p. S455T 0 75% Index Negative MO_1160 Index Negative MO_1160 6 X 71185436 71185436 C T 24382232 24382232 C T Index Negative MO_1160 3 126142435 126142435 G Index Negative MO_1160 11 88027646 Index Negative MO_1160 17 36878324 Index Negative MO_1160 Index Negative MO_1160 Index A CCDC37 88027646 G T CTSC 36878324 C T 3 138251366 138251366 G A 30700177 C T Negative MO_1160 4 177049954 177049954 T A Index Negative MO_1160 8 104433260 104433260 G A Index Negative MO_1160 12 11506324 11506324 C T Index Negative MO_1160 21 15750546 15750546 G A Index Negative MO_1160 19 1827034 1827034 G A Index Negative MO_1160 2 179589239 179589239 C T Index Negative MO_1160 3 110845131 110845131 G A Index Negative MO_1160 Index Negative MO_1160 15 10 8 30700177 88769285 68992692 88769285 G 68992692 G A A Index Negative MO_1160 1 243437867 243437867 C T Index Negative MO_1160 1 75108760 75108760 T A Index Negative MO_1160 8 30705011 30705011 T A Index Negative MO_1160 3 172643172 172643172 C T Index Negative MO_1160 FAM135A:NM_0011 62529:exon5:c.C368 T:p.S123L,FAM135A nonsynonymo :NM_020819:exon5: FAM135A NA us SNV c.C239T:p.S80L,FA M135A:NM_0011055 31:exon7:c.C368T:p. S123L SUPT20HL1:NM_00 SUPT20H nonsynonymo 1136234:exon1:c.C1 NA L1 us SNV 355T:p.S452L 16 1891830 1891830 C T PREX2:NM_024870: exon16:c.G1657A:p. nonsynonymo E553K,PREX2:NM_0 us SNV 25170:exon16:c.G16 57A:p.E553K SDCCAG8:NM_0066 SDCCAG nonsynonymo 42:exon4:c.C329T:p. 8 us SNV T110I ERICH3:NM_001002 nonsynonymo ERICH3 912:exon4:c.A266T: us SNV p.K89I TEX15:NM_031271: nonsynonymo TEX15 exon1:c.A1523T:p.H us SNV 508L SPATA16:NM_0319 nonsynonymo SPATA16 55:exon7:c.G1192A: us SNV p.E398K MEIOB NA rs149122 763 29 0 0% 41 10 19.61% NA 59 0 0% 63 10 13.70% 85 1 1.16% 137 10 6.80% 10 4.24% ID=COSM1 CCDC37:NM_18262 566295;OC nonsynonymo rs200815 8:exon13:c.G1234A: CURENCE 0.0001997 us SNV 085 p.E412K =1(large_in testine) CTSC:NM_001814:e nonsynonymo xon7:c.C920A:p.A30 us SNV 7E MLLT6:NM_005937: nonsynonymo MLLT6 exon17:c.C2636T:p. us SNV P879L CEP70:NM_0012889 67:exon4:c.C226T:p. H76Y,CEP70:NM_00 1288965:exon7:c.C6 22T:p.H208Y,CEP70 nonsynonymo :NM_001288964:exo CEP70 us SNV n8:c.C628T:p.H210Y ,CEP70:NM_001288 966:exon8:c.C682T: p.H228Y,CEP70:NM _024491:exon8:c.C6 82T:p.H228Y GOLGA8R:NM_0012 GOLGA8 nonsynonymo 82484:exon11:c.G80 R us SNV 5A:p.E269K WDR17:NM_181265 :exon6:c.T856A:p.L2 nonsynonymo WDR17 86I,WDR17:NM_170 us SNV 710:exon7:c.T928A: p.L310I DCAF13:NM_01542 nonsynonymo DCAF13 0:exon3:c.G784A:p. us SNV G262S PRB1:NM_199353:e nonsynonymo PRB1 xon4:c.G314A:p.G10 us SNV 5E HSPA13:NM_00694 nonsynonymo HSPA13 8:exon3:c.C554T:p.S us SNV 185L REXO1:NM_020695: nonsynonymo REXO1 exon2:c.C1754T:p.S us SNV 585F TTN:NM_133378:ex on69:c.G17131A:p.G 5711R,TTN:NM_001 nonsynonymo 256850:exon70:c.G1 TTN us SNV 9912A:p.G6638R,TT N:NM_001267550:ex on72:c.G20863A:p.G 6955R PVRL3:NM_0012432 86:exon5:c.G1018A: p.V340M,PVRL3:NM nonsynonymo _001243288:exon5:c PVRL3 us SNV .G949A:p.V317M,PV RL3:NM_015480:exo n5:c.G1018A:p.V340 M AGAP11:NM_13344 nonsynonymo AGAP11 7:exon12:c.G1276A: us SNV p.E426K PREX2 0.0001997 MEIOB:NM_0011635 60:exon11:c.G1025A nonsynonymo :p.R342Q,MEIOB:N us SNV M_152764:exon11:c. G1025A:p.R342Q NA NA NA 157 0 0% 226 NA NA NA 16 0 0% 29 11 27.50% NA NA NA 22 0 0% 31 11 26.19% NA NA NA 28 0 0% 28 12 NA NA NA 19 0 0% 10 13 56.52% NA NA NA 25 0 0% 31 13 29.55% NA NA NA 46 0 0% 18 15 45.45% NA NA NA 48 0 0% 35 15 NA NA NA 22 0 0% 6 16 72.73% NA NA NA 36 0 0% 36 16 30.77% NA NA NA 21 0 0% 42 17 28.81% NA NA NA 38 0 0% 18 17 48.57% ID=COSM1 101284,CO SM110128 3;OCCUR 0.0001997 NA ENCE=1(e ndometriu m),1(large _intestine) 49 0 0% 62 17 21.52% NA NA NA 20 0 0% 37 18 32.73% NA NA NA 22 0 0% 35 18 33.96% rs199659 098 43 0 0% 59 18 23.38% NA NA 44 0 0% 47 18 27.69% ID=COSM1 376211,CO SM137621 0;OCCUR NA ENCE=1(la rge_intesti ne) NA 26 0 0% 32 19 37.25% NA NA 0.0003994 30% 30% Index Negative MO_1160 Index Negative MO_1160 1 179322762 179322762 C 21 33744936 33744936 G T SOAT1 nonsynonymo us SNV A URB1 nonsynonymo us SNV Index Negative MO_1160 19 40581637 40581637 G A ZNF780A nonsynonymo us SNV Index Negative MO_1160 8 27905033 27905033 C T NUGGC nonsynonymo us SNV Index Negative MO_1160 10 88769270 88769270 G A AGAP11 nonsynonymo us SNV Index Negative MO_1160 7 57200021 57200021 C T ZNF479 nonsynonymo us SNV Index Negative MO_1160 19 41352833 41352833 C T CYP2A6 nonsynonymo us SNV Index Negative MO_1160 19 57029853 57029853 C T ZNF471 nonsynonymo us SNV Index Negative MO_1160 1 62327290 62327290 C T INADL nonsynonymo us SNV Index Negative MO_1160 7 20738148 20738148 C T ABCB5 nonsynonymo us SNV Index Negative MO_1160 8 120583060 120583060 C T ENPP2 nonsynonymo us SNV Index Negative MO_1160 6 166862290 166862290 C A RPS6KA2 nonsynonymo us SNV Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 19 41898853 Index Negative MO_1160 15 64737260 18638079 18638079 C T CDKL5 nonsynonymo us SNV 53298662 53298662 G A KRT8 nonsynonymo us SNV 1 173542376 173542376 C T SLC9C2 nonsynonymo us SNV 41898853 G A EXOSC5 nonsynonymo us SNV 64737260 C T TRIP4 nonsynonymo us SNV X 12 Index Negative MO_1160 1 48865165 G A SPATA6 nonsynonymo us SNV Index Negative MO_1160 1 245006387 245006387 G A COX20 nonsynonymo us SNV Index Negative MO_1160 4 154507394 154507394 C T KIAA0922 nonsynonymo us SNV Index Negative MO_1160 2 186668728 186668728 A G FSIP2 nonsynonymo us SNV 48865165 SOAT1:NM_001252 511:exon15:c.C1465 T:p.R489C,SOAT1:N M_001252512:exon1 5:c.C1444T:p.R482C ,SOAT1:NM_003101 :exon16:c.C1639T:p. R547C URB1:NM_014825:e xon8:c.C881T:p.S29 4F ZNF780A:NM_00101 0880:exon6:c.C712T :p.R238C,ZNF780A: NM_001142577:exo n6:c.C715T:p.R239C ,ZNF780A:NM_0011 42578:exon6:c.C712 T:p.R238C NUGGC:NM_001010 906:exon11:c.G1303 A:p.E435K AGAP11:NM_13344 7:exon12:c.G1261A: p.E421K ZNF479:NM_033273 :exon2:c.G11A:p.R4 K CYP2A6:NM_00076 2:exon5:c.G778A:p. D260N ZNF471:NM_020813 :exon4:c.C163T:p.L5 5F INADL:NM_176877:e xon19:c.C2390T:p.S 797L ABCB5:NM_178559: exon8:c.C794T:p.S2 65F,ABCB5:NM_001 163941:exon17:c.C2 129T:p.S710F ENPP2:NM_001040 092:exon20:c.G1802 A:p.R601Q,ENPP2: NM_001130863:exo n21:c.G1877A:p.R62 6Q,ENPP2:NM_0062 09:exon21:c.G1958A :p.R653Q RPS6KA2:NM_0211 35:exon14:c.G1254T :p.K418N,RPS6KA2: NM_001006932:exo n15:c.G1278T:p.K42 6N CDKL5:NM_003159: exon16:c.C2369T:p. S790F,CDKL5:NM_0 01037343:exon17:c. C2369T:p.S790F KRT8:NM_002273:e xon1:c.C104T:p.S35 F,KRT8:NM_001256 282:exon2:c.C188T: p.S63F,KRT8:NM_0 01256293:exon2:c.C 104T:p.S35F SLC9C2:NM_178527 :exon9:c.G991A:p.E 331K EXOSC5:NM_02015 8:exon2:c.C181T:p.P 61S TRIP4:NM_016213:e xon12:c.C1631T:p.P 544L SPATA6:NM_00128 6239:exon6:c.C596T :p.S199L,SPATA6:N M_001286238:exon7 :c.C638T:p.S213L,S PATA6:NM_019073: exon7:c.C638T:p.S2 13L COX20:NM_198076: exon4:c.G266A:p.R8 9K KIAA0922:NM_0011 31007:exon14:c.C13 45T:p.P449S,KIAA0 922:NM_015196:exo n14:c.C1342T:p.P44 8S FSIP2:NM_173651:e xon17:c.A14962G:p.I 4988V ID=COSM1 336688;OC CURENCE NA =1(large_in testine) NA 27 0 0% 39 19 32.76% NA NA 31 0 0% 44 19 30.16% rs151091 466 33 0 0% 33 20 37.74% ID=COSM1 234588,CO SM123458 7;OCCUR ENCE=1(la rge_intesti ne) NA 0.000599 NA NA NA 39 0 0% 35 20 36.36% NA NA NA 42 0 0% 18 20 52.63% NA NA NA 33 0 0% 13 21 61.76% NA NA NA 37 0 0% 35 21 37.50% NA NA NA 42 0 0% 53 21 28.38% NA NA NA 29 0 0% 39 22 36.07% NA NA NA 36 0 0% 17 22 56.41% NA NA NA 56 0 0% 54 22 28.95% NA NA NA 578 1 0.17% 566 NA NA NA 14 0 0% 5 NA NA NA 39 0 0% 27 23 NA NA NA 53 0 0% 72 23 24.21% NA NA NA 41 0 0% 22 24 52.17% NA NA NA 43 0 0% 34 24 41.38% ID=COSM4 26416;OC NA CURENCE =1(breast) NA 49 0 0% 57 24 29.63% NA NA NA 55 0 0% 55 24 30.38% NA NA NA 67 0 0% 31 24 43.64% NA NA NA 34 0 0% 55 25 31.25% 22 3.74% 23 82.14% 46% PPP6R3:NM_00116 4160:exon12:c.C131 2T:p.L438F,PPP6R3 :NM_001164161:exo n12:c.C1312T:p.L43 8F,PPP6R3:NM_001 164162:exon12:c.C1 312T:p.L438F,PPP6 R3:NM_001164163:e xon12:c.C1312T:p.L 438F,PPP6R3:NM_0 01164164:exon12:c. C1159T:p.L387F,PP P6R3:NM_018312:e xon12:c.C1159T:p.L 387F ACTR10:NM_01847 7:exon6:c.C509T:p.A 170V EVI5:NM_005665:ex on10:c.G1269A:p.M4 23I ADGB:NM_024694:e xon21:c.C2534T:p.S 845F COL19A1:NM_0018 58:exon11:c.G992A: p.G331D GUCY2D:NM_00018 0:exon2:c.G334A:p. G112R IFT81:NM_00114377 9:exon16:c.C1660T: p.R554C,IFT81:NM_ 014055:exon16:c.C1 660T:p.R554C UHRF1BP1L:NM_01 5054:exon13:c.C155 2T:p.P518S Index Negative MO_1160 11 68338541 68338541 C T PPP6R3 nonsynonymo us SNV Index Negative MO_1160 14 58680407 58680407 C T ACTR10 nonsynonymo us SNV Index Negative MO_1160 1 93142736 93142736 C T EVI5 nonsynonymo us SNV Index Negative MO_1160 6 147054269 147054269 C T ADGB nonsynonymo us SNV Index Negative MO_1160 6 70672728 70672728 G A COL19A1 nonsynonymo us SNV Index Negative MO_1160 17 7906699 7906699 G A GUCY2D nonsynonymo us SNV Index Negative MO_1160 12 110643263 110643263 C T IFT81 nonsynonymo us SNV Index Negative MO_1160 12 100453819 100453819 G A UHRF1BP nonsynonymo 1L us SNV A CYP51A1:NM_0007 86:exon8:c.C1111T: nonsynonymo CYP51A1 p.R371C,CYP51A1: NA us SNV NM_001146152:exo n8:c.C796T:p.R266C T TRPA1 TRPA1:NM_007332: nonsynonymo exon3:c.G277A:p.E9 NA us SNV 3K CR1 CR1:NM_000573:ex on25:c.C4174T:p.R1 nonsynonymo 392C,CR1:NM_0006 us SNV 51:exon33:c.C5524T :p.R1842C Index Index Index Negative MO_1160 Negative MO_1160 Negative MO_1160 7 8 91747905 72981425 91747905 G 72981425 C 1 207758215 207758215 C T nonsynonymo us SNV Index Negative MO_1160 19 37129620 37129620 G A ZNF461 Index Negative MO_1160 10 43678896 43678896 C T CSGALN nonsynonymo ACT2 us SNV Index Negative MO_1160 6 151869463 151869463 G A CCDC170 nonsynonymo us SNV Index Negative MO_1160 1 100378043 100378043 C T AGL nonsynonymo us SNV Index Negative MO_1160 1 66085622 66085622 C T LEPR Index Negative MO_1160 7 97841733 97841733 G A BHLHA15 Index Negative MO_1160 1 103491454 103491454 C T ZNF461:NM_001297 623:exon5:c.C1558T :p.L520F,ZNF461:N M_153257:exon6:c. C1627T:p.L543F CSGALNACT2:NM_ 018590:exon8:c.C15 35T:p.S512F CCDC170:NM_0250 59:exon5:c.G613A:p. E205K AGL:NM_000645:ex on27:c.C3868T:p.P1 290S,AGL:NM_0000 28:exon29:c.C3919T :p.P1307S,AGL:NM_ 000642:exon29:c.C3 919T:p.P1307S,AGL :NM_000643:exon29 :c.C3919T:p.P1307S ,AGL:NM_000644:ex on29:c.C3919T:p.P1 307S,AGL:NM_0006 46:exon29:c.C3871T :p.P1291S NA NA NA 36 0 0% 50 25 33.33% NA NA NA 39 0 0% 44 25 36.23% NA NA NA 43 0 0% 47 25 34.72% NA NA NA 34 0 0% 45 26 36.62% NA NA NA 39 0 0% 43 26 37.68% NA NA NA 48 0 0% 30 26 46.43% NA NA NA 51 0 0% 50 26 34.21% NA NA NA 52 0 0% 74 26 rs376034 553 34 0 0% 38 27 41.54% NA NA 43 0 0% 44 27 38.03% ID=COSM9 03175,CO SM903176; NA OCCUREN CE=1(endo metrium) NA 51 0 0% 61 27 30.68% NA rs368658 007 51 0 0% 56 27 32.53% 0.0001997 0.0001997 26% NA NA NA 43 0 0% 26 28 51.85% NA NA NA 55 0 0% 88 28 24.14% NA NA NA 58 0 0% 74 28 27.45% LEPR:NM_00119868 7:exon16:c.C2407T: p.P803S,LEPR:NM_ 001198688:exon16:c .C2407T:p.P803S,LE PR:NM_001198689: exon16:c.C2407T:p. nonsynonymo P803S,LEPR:NM_00 NA us SNV 1003679:exon17:c.C 2407T:p.P803S,LEP R:NM_001003680:ex on17:c.C2407T:p.P8 03S,LEPR:NM_0023 03:exon17:c.C2407T :p.P803S NA NA 40 0 0% 78 29 27.10% NA NA 53 0 0% 42 29 40.85% NA NA 58 0 0% 69 29 29.59% BHLHA15:NM_1774 nonsynonymo 55:exon1:c.G112A:p. NA us SNV A38T COL11A1:NM_0806 nonsynonymo COL11A1 29:exon6:c.G835A:p. NA us SNV E279K Index Negative MO_1160 Index Negative MO_1160 Index KIAA1257:NM_0207 nonsynonymo 41:exon4:c.G472A:p. NA us SNV E158K ID=COSM1 PLCB1:NM_015192: 713168,CO exon17:c.G1723A:p. nonsynonymo SM171316 G575R,PLCB1:NM_ us SNV 7;OCCUR 182734:exon17:c.G1 ENCE=1(s 723A:p.G575R kin) DOCK4:NM_014705: nonsynonymo exon25:c.G2620A:p. NA us SNV E874K NSMAF:NM_001144 772:exon2:c.T170A: nonsynonymo p.L57H,NSMAF:NM_ NA us SNV 003580:exon2:c.T77 A:p.L26H PRTG:NM_173814:e nonsynonymo xon7:c.G1094A:p.R3 NA us SNV 65K T KIAA1257 8708000 G A PLCB1 Negative MO_1160 7 111484935 111484935 C T DOCK4 Index Negative MO_1160 8 59555615 59555615 A T NSMAF Index Negative MO_1160 15 55971523 55971523 C T PRTG A PHACTR2:NM_0011 00164:exon3:c.C241 A:p.Q81K,PHACTR2 :NM_001100165:exo nonsynonymo n3:c.C241A:p.Q81K, PHACTR2 NA us SNV PHACTR2:NM_0011 00166:exon3:c.C208 A:p.Q70K,PHACTR2 :NM_014721:exon3: c.C208A:p.Q70K Index Negative MO_1160 3 128706654 128706654 C 20 8708000 6 144070148 144070148 C Index Negative MO_1160 12 13102600 13102600 G A Index Negative MO_1160 1 82416125 82416125 G A NA NA 58 0 0% 116 NA NA 63 0 0% 84 29 25.66% NA NA 68 0 0% 67 29 30.21% NA NA 70 0 0% 101 29 22.31% NA NA 76 0 0% 25 29 53.70% NA NA 94 0 0% 85 29 25.44% NA rs373330 973 623 0 0% 499 NA NA 56 0 0% 71 30 29.70% NA NA 64 0 0% 55 30 35.29% NA NA NA 72 0 0% 110 30 21.43% NA NA NA 36 0 0% 109 31 22.14% NA NA NA 40 0 0% 51 31 37.80% NA NA NA 47 0 0% 54 31 36.47% NA NA NA 57 0 0% 62 31 33.33% NA NA NA 64 0 0% 60 31 34.07% NA NA NA 82 0 0% 79 31 28.18% NA NA NA 29 0 0% 33 32 49.23% NA NA NA 49 0 0% 23 32 58.18% ID=COSM1 691285,CO SM169128 NA 6;OCCUR ENCE=1(s kin) NA 60 0 0% 57 32 35.96% NA NA NA 67 0 0% 25 32 56.14% NA NA NA 72 0 0% 77 32 29.36% GPRC5D:NM_01865 nonsynonymo GPRC5D 4:exon1:c.C719T:p.P NA us SNV 240L LPHN2:NM_012302: nonsynonymo LPHN2 exon6:c.G1451A:p.R NA us SNV 484K Index Negative MO_1160 2 55544936 C T CCDC88A:NM_0011 35597:exon20:c.G33 63A:p.M1121I,CCDC nonsynonymo 88A:NM_001254943: CCDC88A NA us SNV exon20:c.G3363A:p. M1121I,CCDC88A:N M_018084:exon20:c. G3366A:p.M1122I Index Negative MO_1160 3 122825650 122825650 C T PDIA5 Index Negative MO_1160 3 108751574 108751574 C T Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 18 64235916 64235916 G A Index Negative MO_1160 1 43687795 43687795 G T Index Negative MO_1160 2 219878615 219878615 C T Index Negative MO_1160 1 93667489 93667489 G A Index Negative MO_1160 16 81078340 81078340 C T Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 12 55544936 50848199 50848199 C T 1 205687526 205687526 G A 2 166172216 166172216 C 19 9018172 T 9018172 A G 6 117047020 117047020 G A PDIA5:NM_006810:e nonsynonymo xon6:c.C442T:p.P14 us SNV 8S MORC1:NM_014429 nonsynonymo MORC1 :exon16:c.G1558A:p. us SNV E520K LARP4:NM_0011708 03:exon9:c.C907T:p. R303W,LARP4:NM_ 199190:exon9:c.C90 7T:p.R303C,LARP4: NM_001170804:exo n10:c.C1120T:p.R37 nonsynonymo LARP4 4C,LARP4:NM_0011 us SNV 70808:exon10:c.C11 20T:p.R374W,LARP 4:NM_052879:exon1 0:c.C1120T:p.R374C ,LARP4:NM_199188: exon10:c.C1117T:p. R373C NUCKS1:NM_02273 nonsynonymo NUCKS1 1:exon7:c.C614T:p.P us SNV 205L CDH19:NM_001271 028:exon3:c.C227T: nonsynonymo CDH19 p.S76F,CDH19:NM_ us SNV 021153:exon3:c.C22 7T:p.S76F CFAP57:NM_001195 nonsynonymo CFAP57 831:exon15:c.G2361 us SNV T:p.K787N CCDC108:NM_1943 nonsynonymo CCDC108 02:exon22:c.G3754A us SNV :p.E1252K CCDC18:NM_20688 nonsynonymo CCDC18 6:exon7:c.G739A:p. us SNV E247K ATMIN:NM_015251: nonsynonymo ATMIN exon4:c.C2237T:p.S us SNV 746F SCN2A:NM_001040 143:exon10:c.C1619 T:p.S540F,SCN2A:N nonsynonymo M_001040142:exon1 SCN2A us SNV 1:c.C1619T:p.S540F ,SCN2A:NM_021007 :exon11:c.C1619T:p. S540F MUC16:NM_024690: nonsynonymo MUC16 exon25:c.T37766C:p us SNV .V12589A KPNA5:NM_002269: nonsynonymo KPNA5 exon11:c.G1106A:p. us SNV G369E 29 29 20% 5.49% Index Negative MO_1160 12 102591323 102591323 C T Index Negative MO_1160 11 19192033 19192033 C T Index Negative MO_1160 6 89479524 89479524 G A Index Negative MO_1160 10 61823975 61823975 T A Index Negative MO_1160 7 35242142 35242142 G A Index Negative MO_1160 1 158812109 158812109 T C Index Negative MO_1160 2 238449159 238449159 C T Index Negative MO_1160 12 40077231 40077231 G A Index Negative MO_1160 12 80696540 80696540 A T Index Negative MO_1160 10 56423959 PCDH15 NCOR2:NM_001077 261:exon24:c.C3137 T:p.P1046L,NCOR2: NM_001206654:exo n24:c.C3137T:p.P10 46L,NCOR2:NM_006 312:exon25:c.C3167 T:p.P1056L HOOK1:NM_015888: exon13:c.G1303A:p. V435I SLC9C2:NM_178527 :exon12:c.T1388A:p. F463Y TRHDE:NM_013381: exon11:c.A2078G:p. Y693C TSPAN19:NM_0011 00917:exon9:c.T680 C:p.V227A NA rs141964 854 43 0 0% 56 33 37.08% NA NA NA 60 0 0% 33 33 NA NA NA 62 0 0% 65 33 33.67% NA NA NA 67 0 0% 36 33 47.83% NA NA rs111403 731 97 0 0% 35 33 48.53% NA NA NA 61 0 0% 96 34 26.15% NA NA NA 70 0 0% 68 34 33.33% NA NA NA 70 0 0% 79 34 30.09% NA NA NA 61 0 0% 65 35 ID=COSM6 84859;OC NA CURENCE =1(lung) NA 69 0 0% 21 35 62.50% NA NA NA 77 0 0% 64 35 35.35% NA NA NA 78 0 0% 84 35 29.41% NA NA NA 79 0 0% 73 35 32.41% NA NA NA 103 1 0.96% 137 35 20.35% NA NA NA 42 0 0% 51 36 41.38% rs147627 198 59 0 0% 77 36 31.86% NCOR2 nonsynonymo us SNV 60324160 G A HOOK1 nonsynonymo us SNV 1 173517601 173517601 A T SLC9C2 nonsynonymo us SNV 72969116 A G TRHDE nonsynonymo us SNV 85408333 A G TSPAN19 nonsynonymo us SNV T ID=COSM1 09261;OC C14orf39:NM_17497 nonsynonymo CURENCE C14orf39 8:exon15:c.G1354A: NA us SNV =1(skin),1( p.E452K endometriu m) Negative MO_1160 Index Negative MO_1160 1 Index Negative MO_1160 Index Negative MO_1160 12 72969116 Index Negative MO_1160 12 85408333 Negative MO_1160 T PCDH15:NM_00114 2763:exon2:c.G64A: p.E22K,PCDH15:NM _001142764:exon2:c .G64A:p.E22K,PCD H15:NM_001142765: exon2:c.G64A:p.E22 K,PCDH15:NM_0011 42766:exon2:c.G64A nonsynonymo :p.E22K,PCDH15:N us SNV M_001142767:exon2 :c.G64A:p.E22K,PC DH15:NM_00114276 8:exon2:c.G64A:p.E 22K,PCDH15:NM_00 1142773:exon2:c.G6 4A:p.E22K,PCDH15: NM_033056:exon2:c .G64A:p.E22K NA A Index Index 56423959 C PMCH:NM_002674:e nonsynonymo xon1:c.G226A:p.E76 us SNV K ZDHHC13:NM_0010 01483:exon14:c.C11 nonsynonymo 60T:p.S387F,ZDHH ZDHHC13 us SNV C13:NM_019028:exo n15:c.C1550T:p.S51 7F RNGTT:NM_001286 428:exon11:c.C1159 T:p.R387C,RNGTT: nonsynonymo NM_001286426:exo RNGTT us SNV n12:c.C1339T:p.R44 7C,RNGTT:NM_003 800:exon13:c.C1408 T:p.R470C ANK3:NM_001149:e xon15:c.A1954T:p.I6 52F,ANK3:NM_0012 04403:exon38:c.A45 nonsynonymo 34T:p.I1512F,ANK3: ANK3 us SNV NM_001204404:exo n38:c.A4555T:p.I151 9F,ANK3:NM_02098 7:exon39:c.A12391T :p.I4131F TBX20:NM_0010776 nonsynonymo TBX20 53:exon8:c.C1244T: us SNV p.S415L MNDA:NM_002432:e nonsynonymo MNDA xon2:c.T166C:p.F56 us SNV L MLPH:NM_0012814 73:exon8:c.C1069T: p.P357S,MLPH:NM_ 001281474:exon8:c. nonsynonymo C844T:p.P282S,MLP MLPH us SNV H:NM_001042467:ex on9:c.C1189T:p.P39 7S,MLPH:NM_02410 1:exon10:c.C1273T: p.P425S C12orf40:NM_00103 nonsynonymo C12orf40 1748:exon9:c.G1231 us SNV A:p.D411N OTOGL:NM_173591 nonsynonymo OTOGL :exon27:c.A3163T:p. us SNV I1055F PMCH 12 124841262 124841262 G 14 60324160 60923639 60923639 C 50% 35% Index Negative MO_1160 1 47685553 47685553 C T TAL1 TAL1:NM_00129040 6:exon3:c.G358A:p. D120N,TAL1:NM_00 1287347:exon5:c.G8 35A:p.D279N,TAL1: NM_001290403:exo nonsynonymo n5:c.G835A:p.D279 NA us SNV N,TAL1:NM_001290 405:exon5:c.G835A: p.D279N,TAL1:NM_ 001290404:exon6:c. G835A:p.D279N,TAL 1:NM_003189:exon6 :c.G835A:p.D279N NA NA 63 0 0% 64 ZNF226:NM_001032 372:exon6:c.C1468T nonsynonymo :p.L490F,ZNF226:N NA us SNV M_001032373:exon6 :c.C1468T:p.L490F NA NA 103 0 0% 100 36 26.47% NA rs769116 87 416 0 0% 457 36 NA NA 59 0 0% 39 37 48.68% NA NA 97 0 0% 81 37 31.36% NA NA 45 0 0% 44 38 46.34% NA NA NA 91 1 1.09% 76 38 33.33% NA NA NA 56 0 0% 70 39 35.78% NA NA NA 61 0 0% 67 39 36.79% NA NA NA 63 0 0% 65 39 37.50% NA NA rs374897 615 65 0 0% 75 39 34.21% NA NA NA 70 0 0% 53 39 42.39% NA NA NA 71 0 0% 91 39 NA NA NA 74 0 0% 100 39 28.06% NA NA NA 79 0 0% 90 39 30.23% NA NA NA 91 0 0% 97 39 28.68% ID=COSM1 685954;OC CURENCE NA =2(NS),3(s kin) NA 92 0 0% 43 39 47.56% NA NA NA 93 0 0% 77 39 33.62% NA NA NA 107 0 0% 97 39 28.68% NA NA NA 107 0 0% 84 39 31.71% NA NA NA 49 0 0% 75 40 34.78% Index Negative MO_1160 19 44680883 44680883 C T ZNF226 Index Negative MO_1160 19 50249950 50249950 C T TSKS Index Negative MO_1160 19 51528899 51528899 G A KLK11 Index Negative MO_1160 1 120381828 120381828 C T NBPF7 Index Negative MO_1160 11 99715592 99715592 G A CNTN5 Index Negative MO_1160 6 38862507 38862507 C T DNAH8 Index Negative MO_1160 5 7743801 7743801 C T ADCY2 Index Negative MO_1160 2 21226182 21226182 T G APOB Index Negative MO_1160 6 121544429 121544429 G A TBC1D32 Index Negative MO_1160 4 2210069 2210069 G A POLN Index Negative MO_1160 15 85406097 85406097 C T ALPK3 Index Negative MO_1160 1 198711010 198711010 G A PTPRC Index Negative MO_1160 8 75929634 75929634 G A CRISPLD 1 Index Negative MO_1160 12 90020281 90020281 G A ATP2B1 Index Negative MO_1160 12 124209212 124209212 G T ATP6V0A 2 Index Negative MO_1160 4 94344033 G A GRID2 Index Negative MO_1160 7 111430560 111430560 G A DOCK4 Index Negative MO_1160 1 160520759 160520759 G A CD84 Index Negative MO_1160 50500623 G A GPD1 Index Negative MO_1160 8 139736869 139736869 G A COL22A1 12 94344033 50500623 TSKS:NM_021733:e nonsynonymo xon6:c.G769A:p.E25 NA us SNV 7K KLK11:NM_144947: nonsynonymo exon2:c.C85T:p.P29 NA us SNV S NBPF7:NM_0010479 nonsynonymo 80:exon5:c.G817A:p. NA us SNV D273N CNTN5:NM_175566: exon2:c.G64A:p.D22 N,CNTN5:NM_00124 3270:exon4:c.G286A nonsynonymo :p.D96N,CNTN5:NM NA us SNV _001243271:exon5:c .G286A:p.D96N,CNT N5:NM_014361:exon 5:c.G286A:p.D96N DNAH8:NM_001206 nonsynonymo 927:exon59:c.C8614 us SNV T:p.H2872Y ADCY2:NM_020546: nonsynonymo exon15:c.C1892T:p. us SNV S631F APOB:NM_000384:e nonsynonymo xon29:c.A12112C:p.I us SNV 4038L TBC1D32:NM_1527 nonsynonymo 30:exon21:c.C2434T us SNV :p.P812S POLN:NM_181808:e nonsynonymo xon3:c.C359T:p.P12 us SNV 0L ALPK3:NM_020778: nonsynonymo exon10:c.C4967T:p. us SNV P1656L PTPRC:NM_080921: exon21:c.G1933A:p. nonsynonymo A645T,PTPRC:NM_ us SNV 002838:exon24:c.G2 416A:p.A806T CRISPLD1:NM_0012 86777:exon8:c.G518 A:p.G173E,CRISPLD nonsynonymo 1:NM_001286778:ex us SNV on9:c.G512A:p.G171 E,CRISPLD1:NM_03 1461:exon10:c.G107 6A:p.G359E ATP2B1:NM_001001 323:exon7:c.C1079T nonsynonymo :p.S360F,ATP2B1:N us SNV M_001682:exon7:c. C1079T:p.S360F ATP6V0A2:NM_012 nonsynonymo 463:exon4:c.G306T: us SNV p.Q102H GRID2:NM_0012868 38:exon9:c.G1174A: nonsynonymo p.E392K,GRID2:NM us SNV _001510:exon10:c.G 1459A:p.E487K DOCK4:NM_014705: nonsynonymo exon31:c.C3268T:p. us SNV H1090Y CD84:NM_00118488 2:exon4:c.C485T:p.S 162F,CD84:NM_003 nonsynonymo 874:exon5:c.C827T: us SNV p.S276F,CD84:NM_ 001184879:exon6:c. C878T:p.S293F GPD1:NM_0012571 99:exon5:c.G466A:p. nonsynonymo E156K,GPD1:NM_00 us SNV 5276:exon5:c.G535A :p.E179K COL22A1:NM_1528 nonsynonymo 88:exon25:c.C2236T us SNV :p.P746S 36 36% 7.30% 30% Index Negative MO_1160 Index Negative MO_1160 13 46658472 46658472 G A CPB2 2 141081510 141081510 C T LRP1B Index Negative MO_1160 12 76767129 76767129 G A OSBPL8 Index Negative MO_1160 17 67218788 67218788 G A ABCA10 Index Negative MO_1160 12 49729977 49729977 G A Index Negative MO_1160 5 128932288 128932288 G A Index Negative MO_1160 1 3392565 3392565 G A Index Negative MO_1160 10 75335343 75335343 G A Index Negative MO_1160 3 185363397 185363397 C A Index Negative MO_1160 1 158596770 158596770 C T Index Negative MO_1160 5 108207835 108207835 C T Index Negative MO_1160 12 80203762 80203762 G A Index Negative MO_1160 17 65732851 65732851 C T Index Negative MO_1160 4 36075408 36075408 C T Index Negative MO_1160 3 132056369 132056369 G A Index Negative MO_1160 7 100200162 100200162 C T Index Negative MO_1160 7 100200161 100200161 C T Index Negative MO_1160 1 22923837 C T Index Negative MO_1160 6 147122376 147122376 G A Index Negative MO_1160 Index Negative MO_1160 17 22923837 10304394 10304394 C T 8 103326109 103326109 C T CPB2:NM_00127854 1:exon3:c.C157T:p.L nonsynonymo 53F,CPB2:NM_0018 NA us SNV 72:exon3:c.C157T:p. L53F LRP1B:NM_018557: nonsynonymo exon81:c.G12466A:p NA us SNV .D4156N NA rs368766 293 87 1 1.14% 27 40 59.70% NA NA 52 0 0% 83 41 33.06% ID=COSM1 722435;OC NA CURENCE =2(NS) NA 58 0 0% 81 41 33.61% NA NA NA 67 0 0% 85 41 32.54% NA NA NA 80 0 0% 55 41 42.71% NA NA NA 81 0 0% 101 41 28.87% NA NA NA 110 0 0% 85 41 32.54% nonsynonymo USP54:NM_152586: NA us SNV exon1:c.C74T:p.T25I NA NA 71 0 0% 32 42 56.76% NA NA 72 0 0% 69 42 37.84% NA NA 75 0 0% 87 42 32.56% NA NA 86 0 0% 92 42 31.34% NA NA 53 0 0% 62 43 40.95% rs192561 539 57 0 0% 86 43 33.33% NA NA 75 0 0% 85 43 33.59% NA NA 80 0 0% 144 43 22.99% NA NA 49 0 0% 49 44 47.31% NA NA 51 0 0% 50 44 46.81% NA rs202243 952 64 0 0% 71 44 38.26% NA NA 69 0 0% 80 44 35.48% NA NA 71 0 0% 28 44 61.11% NA NA 97 0 0% 100 44 30.56% OSBPL8:NM_00100 3712:exon17:c.C178 nonsynonymo 6T:p.H596Y,OSBPL us SNV 8:NM_020841:exon1 8:c.C1912T:p.H638Y ABCA10:NM_08028 nonsynonymo 2:exon5:c.C85T:p.P2 us SNV 9S C1QL4:NM_0010082 nonsynonymo C1QL4 23:exon1:c.C284T:p. us SNV P95L ADAMTS19:NM_133 ADAMTS nonsynonymo 638:exon8:c.G1391A 19 us SNV :p.R464K ARHGEF16:NM_014 ARHGEF1 nonsynonymo 448:exon10:c.G1412 6 us SNV A:p.R471K USP54 IGF2BP2:NM_00129 1874:exon14:c.G140 4T:p.K468N,IGF2BP 2:NM_001291875:ex on14:c.G1314T:p.K4 38N,IGF2BP2:NM_0 01007225:exon15:c. G1593T:p.K531N,IG F2BP2:NM_0012918 nonsynonymo IGF2BP2 72:exon15:c.G1551T NA us SNV :p.K517N,IGF2BP2: NM_001291873:exo n15:c.G1533T:p.K51 1N,IGF2BP2:NM_00 1291869:exon16:c.G 1740T:p.K580N,IGF 2BP2:NM_006548:ex on16:c.G1722T:p.K5 74N SPTA1:NM_003126: nonsynonymo SPTA1 exon41:c.G5692A:p. NA us SNV E1898K ID=COSM1 FER:NM_005246:ex 252358;OC nonsynonymo FER on8:c.C845T:p.S282 CURENCE us SNV F =1(oesoph agus) PPP1R12A:NM_001 143886:exon10:c.C1 007T:p.P336L,PPP1 R12A:NM_00124499 2:exon10:c.C1268T: p.P423L,PPP1R12A: PPP1R12 nonsynonymo NM_002480:exon10: NA A us SNV c.C1268T:p.P423L,P PP1R12A:NM_0011 43885:exon11:c.C12 68T:p.P423L,PPP1R 12A:NM_001244990: exon11:c.C1268T:p. P423L NOL11:NM_015462: nonsynonymo NOL11 exon10:c.C1124T:p. NA us SNV S375L ID=COSM8 ARAP2:NM_015230: 4853;OCC nonsynonymo ARAP2 exon32:c.G4646A:p. URENCE= us SNV R1549Q 2(pancreas ) ACPP:NM_001099:e xon5:c.G526A:p.E17 nonsynonymo ACPP 6K,ACPP:NM_00113 NA us SNV 4194:exon5:c.G526A :p.E176K PCOLCE:NM_00259 nonsynonymo PCOLCE 3:exon1:c.C83T:p.P2 NA us SNV 8L PCOLCE:NM_00259 nonsynonymo PCOLCE 3:exon1:c.C82T:p.P2 NA us SNV 8S EPHA8:NM_020526: nonsynonymo EPHA8 exon10:c.C1798T:p. NA us SNV P600S ADGB:NM_024694:e nonsynonymo ADGB xon34:c.G4595A:p.R NA us SNV 1532Q MYH8:NM_002472:e nonsynonymo MYH8 xon25:c.G3223A:p.D NA us SNV 1075N UBR5:NM_00128287 3:exon16:c.G1930A: nonsynonymo UBR5 p.E644K,UBR5:NM_ NA us SNV 015902:exon16:c.G1 930A:p.E644K 0.000599 Index Negative MO_1160 2 149847680 149847680 G A Index Negative MO_1160 1 152188365 152188365 C T Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 12 32994019 32994019 G A Index Negative MO_1160 20 34206609 34206609 G T Index Negative MO_1160 1 169773282 169773282 G A Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 10 50015916 C A Index Negative MO_1160 12 119957972 119957972 G A Index Negative MO_1160 2 170665054 170665054 G A Index Negative MO_1160 5 36269533 36269533 G A Index Negative MO_1160 5 52351429 52351429 G T Index Negative MO_1160 70327711 70327711 G A Index Negative MO_1160 1 240421273 240421273 C T Index Negative MO_1160 8 63976866 63976866 G A Index Negative MO_1160 13 96264376 96264376 C T Index Negative MO_1160 5 5486883 5486883 A C Index Negative MO_1160 9 79959997 79959997 G A Index Negative MO_1160 1 196706761 196706761 G A Index Negative MO_1160 1 172501872 172501872 G A Index Negative MO_1160 2 A 17 33954457 C T 7 129910626 129910626 G A 12 33954457 81025971 G A 2 152497125 152497125 G A X 81025971 50015916 72719490 72719490 G Index Negative MO_1160 6 38863996 38863996 G A Index Negative MO_1160 14 21795862 21795862 C T KIF5C:NM_004522:e nonsynonymo xon16:c.G1873A:p.E us SNV 625K HRNR:NM_0010099 nonsynonymo HRNR 31:exon3:c.G5740A: us SNV p.G1914R AP2B1:NM_0010300 06:exon8:c.C992T:p. nonsynonymo AP2B1 P331L,AP2B1:NM_0 us SNV 01282:exon8:c.C992 T:p.P331L CPA2:NM_001869:e nonsynonymo CPA2 xon4:c.G382A:p.E12 us SNV 8K PKP2:NM_00100524 2:exon6:c.C1499T:p. nonsynonymo PKP2 P500L,PKP2:NM_00 us SNV 4572:exon7:c.C1631 T:p.P544L SPAG4:NM_003116: nonsynonymo SPAG4 exon7:c.G684T:p.K2 us SNV 28N C1orf112:NM_01818 nonsynonymo C1orf112 6:exon6:c.G379A:p. us SNV E127K PTPRQ:NM_001145 nonsynonymo PTPRQ 026:exon31:c.G5171 us SNV A:p.G1724E NEB:NM_001164507 :exon61:c.C8429T:p. A2810V,NEB:NM_00 1164508:exon61:c.C nonsynonymo 8429T:p.A2810V,NE NEB us SNV B:NM_001271208:ex on61:c.C8429T:p.A2 810V,NEB:NM_0045 43:exon61:c.C8429T :p.A2810V WDFY4:NM_020945 nonsynonymo WDFY4 :exon28:c.C4751A:p. us SNV T1584K CCDC60:NM_17849 nonsynonymo CCDC60 9:exon9:c.G1015A:p. us SNV E339K SSB:NM_001294145 :exon7:c.G617A:p.R nonsynonymo SSB 206K,SSB:NM_0031 us SNV 42:exon7:c.G617A:p. R206K RANBP3L:NM_0011 61429:exon4:c.C227 nonsynonymo RANBP3L T:p.S76L,RANBP3L: us SNV NM_145000:exon4:c .C227T:p.S76L ITGA2:NM_002203:e nonsynonymo ITGA2 xon8:c.G841T:p.V28 us SNV 1L IL2RG:NM_000206:e nonsynonymo IL2RG xon8:c.C985T:p.L32 us SNV 9F FMN2:NM_020066:e nonsynonymo FMN2 xon7:c.C4094T:p.S1 us SNV 365L TTPA:NM_000370:e nonsynonymo TTPA xon4:c.C562T:p.P18 us SNV 8S DZIP1:NM_014934:e xon11:c.G1229A:p.S nonsynonymo DZIP1 410N,DZIP1:NM_19 us SNV 8968:exon11:c.G122 9A:p.S410N ICE1:NM_015325:ex nonsynonymo ICE1 on18:c.A6570C:p.K2 us SNV 190N VPS13A:NM_001018 037:exon51:c.G7111 A:p.G2371R,VPS13 A:NM_001018038:ex on52:c.G7228A:p.G2 nonsynonymo VPS13A 410R,VPS13A:NM_0 us SNV 15186:exon52:c.G72 28A:p.G2410R,VPS1 3A:NM_033305:exon 52:c.G7228A:p.G241 0R CFH:NM_000186:ex nonsynonymo CFH on17:c.G2753A:p.G9 us SNV 18E SUCO:NM_016227:e nonsynonymo SUCO xon1:c.G260A:p.R87 us SNV Q EXOC6B:NM_01518 nonsynonymo EXOC6B 9:exon16:c.C1622T: us SNV p.S541F KIF5C NA NA NA 104 0 0% 81 NA NA NA 297 0 0% 399 NA NA NA 48 0 0% 79 45 36.29% NA NA NA 72 0 0% 76 45 37.19% NA NA NA 72 0 0% 92 45 32.85% NA NA NA 73 0 0% 60 45 42.86% NA NA NA 75 0 0% 85 45 34.62% NA NA NA 75 0 0% 95 45 32.14% NA NA NA 83 0 0% 60 45 42.86% NA NA NA 92 0 0% 41 45 52.33% NA NA NA 109 0 0% 79 45 36.29% NA NA NA 66 0 0% 79 46 36.80% NA NA NA 73 0 0% 88 46 34.33% NA NA NA 138 0 0% 130 46 26.14% NA NA NA 34 0 0% 12 47 79.66% NA NA NA 54 0 0% 64 47 42.34% NA NA NA 73 0 0% 89 47 34.56% NA NA NA 79 0 0% 33 47 58.75% NA NA NA 82 0 0% 87 47 35.07% NA NA NA 98 0 0% 94 47 33.33% NA NA NA 127 0 0% 96 47 32.87% NA NA NA 153 0 0% 212 47 18.15% NA NA NA 84 0 0% 66 48 42.11% NA 96 0 0% 85 48 36.09% NA 121 0 0% 114 48 29.63% ID=COSM1 697138,CO DNAH8:NM_001206 nonsynonymo SM169713 DNAH8 927:exon60:c.G8935 NA us SNV 7;OCCUR A:p.E2979K ENCE=1(s kin) RPGRIP1:NM_0203 nonsynonymo RPGRIP1 66:exon17:c.C2791T NA NA us SNV :p.P931S 44 35.20% 44 9.93% Index Negative MO_1160 18 67231792 67231792 C T Index Negative MO_1160 1 86334299 86334299 C T Index Negative MO_1160 Index Negative MO_1160 Index 5 171326951 171326951 G ID=COSM2 DOK6:NM_152721:e 32202;OC nonsynonymo DOK6 xon2:c.C136T:p.P46 CURENCE NA us SNV S =1(skin),2( NS) COL24A1:NM_1528 nonsynonymo COL24A1 90:exon37:c.G3203A NA NA us SNV :p.G1068E A FBXW11 72302720 C T MYO9A Negative MO_1160 1 182551296 182551296 G A Index Negative MO_1160 12 124241497 124241497 G A Index Negative MO_1160 1 103488348 103488348 C T Index Negative MO_1160 8 113569060 113569060 C T Index Negative MO_1160 7 82584268 82584268 C T Index Negative MO_1160 11 55735108 55735108 G A Index Negative MO_1160 10 93582056 93582056 T G Index Negative MO_1160 18 19997710 19997710 C T 15 72302720 Index Negative MO_1160 3 178936091 178936091 G PIK3CA Index Negative MO_1160 18 23845250 23845250 C T TAF4B Index Negative MO_1160 1 36214055 36214055 G A CLSPN Index Negative MO_1160 16 58079043 58079043 G A MMP15 Index Negative MO_1160 6 170116052 170116052 G A PHF10 65 0 0% 101 49 32.67% NA 70 0 0% 83 49 37.12% NA NA 74 0 0% 46 49 51.58% NA NA NA 79 0 0% 112 49 30.43% NA NA NA 80 0 0% 63 49 43.75% NA NA NA 80 0 0% 75 49 39.52% NA NA NA 82 0 0% 82 49 37.40% NA NA NA 86 0 0% 79 49 38.28% NA NA NA 87 0 0% 86 49 36.30% NA NA NA 95 0 0% 97 49 33.56% NA NA NA 98 0 0% 49 49 NA NA NA 77 1 1.28% 77 50 39.37% rs104886 003 78 0 0% 77 50 39.37% NA 81 0 0% 82 50 37.88% NA 85 0 0% 101 50 33.11% NA 90 0 0% 28 50 64.10% NA 100 0 0% 98 50 33.78% FBXW11:NM_03364 5:exon3:c.C425T:p.P 142L,FBXW11:NM_0 nonsynonymo 12300:exon4:c.C527 NA us SNV T:p.P176L,FBXW11: NM_033644:exon4:c .C488T:p.P163L MYO9A:NM_006901: nonsynonymo exon7:c.G1224A:p.M us SNV 408I RNASEL:NM_02113 nonsynonymo RNASEL 3:exon4:c.C1664T:p. us SNV P555L ATP6V0A2:NM_012 ATP6V0A nonsynonymo 463:exon19:c.G2429 2 us SNV A:p.G810E COL11A1:NM_0011 90709:exon7:c.G107 8A:p.E360K,COL11A nonsynonymo 1:NM_001854:exon8 COL11A1 us SNV :c.G1195A:p.E399K, COL11A1:NM_0806 29:exon8:c.G1231A: p.E411K CSMD3:NM_052900: exon24:c.G3854A:p. G1285E,CSMD3:NM nonsynonymo _198123:exon25:c.G CSMD3 us SNV 4166A:p.G1389E,CS MD3:NM_198124:ex on26:c.G4046A:p.G1 349E PCLO:NM_014510:e xon5:c.G6001A:p.E2 nonsynonymo PCLO 001K,PCLO:NM_033 us SNV 026:exon5:c.G6001A :p.E2001K OR10AG1:NM_0010 nonsynonymo OR10AG1 05491:exon1:c.C832 us SNV T:p.P278S TNKS2:NM_025235: nonsynonymo TNKS2 exon7:c.T732G:p.D2 us SNV 44E CTAGE1:NM_17224 nonsynonymo CTAGE1 1:exon1:c.G65A:p.G us SNV 22E A NA ID=COSM7 63,COSM1 25370;OC CURENCE =4(salivary _gland),38( endometriu m),4(soft_ti ssue),28(o vary),1(pitu itary),4(kid ney),3(pan creas),3(liv PIK3CA:NM_006218 er),126(uri nonsynonymo :exon10:c.G1633A:p. nary_tract), NA us SNV E545K 1(biliary_tr act),373(lar ge_intestin e),1(prosta te),365(bre ast),16(ski n),1(small_ intestine),4 1(upper_ae rodigestive _tract),8(o esophagus ),18(stoma ch),17(cent TAF4B:NM_0012937 25:exon2:c.C460T:p. nonsynonymo P154S,TAF4B:NM_0 NA NA us SNV 05640:exon2:c.C460 T:p.P154S CLSPN:NM_001190 481:exon12:c.C2231 nonsynonymo T:p.S744F,CLSPN:N NA NA us SNV M_022111:exon13:c. C2423T:p.S808F MMP15:NM_002428: nonsynonymo exon10:c.G1703A:p. NA NA us SNV R568Q PHF10:NM_018288: exon5:c.C542T:p.S1 nonsynonymo 81F,PHF10:NM_133 NA NA us SNV 325:exon5:c.C536T: p.S179F 50% nonsynonymo us SNV Index Negative MO_1160 14 59965546 59965546 A T JKAMP Index Negative MO_1160 4 68925147 68925147 G A TMPRSS nonsynonymo 11F us SNV Index Negative MO_1160 2 157367407 157367407 C T GPD2 nonsynonymo us SNV Index Negative MO_1160 11 120139919 120139919 G A POU2F3 nonsynonymo us SNV Index Negative MO_1160 2 211459245 211459245 C T CPS1 nonsynonymo us SNV Index Negative MO_1160 20 35663786 35663786 C T RBL1 nonsynonymo us SNV Index Negative MO_1160 1 70587496 70587496 G A LRRC7 nonsynonymo us SNV Index Negative MO_1160 1 207198240 207198240 G A C1orf116 nonsynonymo us SNV Index Negative MO_1160 1 145459661 145459661 G A POLR3GL nonsynonymo us SNV Index Negative MO_1160 5 13717504 13717504 G A DNAH5 Index Negative MO_1160 7 131859659 131859659 C T PLXNA4 Index Negative MO_1160 5 74715210 74715210 G A Index Negative MO_1160 17 59763235 59763235 G A Index Negative MO_1160 17 39041434 39041434 C T Index Negative MO_1160 8 113266535 113266535 C T Index Negative MO_1160 11 121420694 121420694 G A Index Negative MO_1160 1 214813461 214813461 G A Index Negative MO_1160 16 57604330 57604330 G A Index Negative MO_1160 21 37591781 37591781 C T Index Negative MO_1160 6 150111111 150111111 C A JKAMP:NM_001098 625:exon5:c.A542T: p.D181V,JKAMP:NM _001284201:exon5:c .A602T:p.D201V,JK AMP:NM_00128420 3:exon5:c.A371T:p.D 124V,JKAMP:NM_00 1284204:exon5:c.A5 60T:p.D187V,JKAM P:NM_016475:exon5 :c.A560T:p.D187V,J KAMP:NM_0012842 02:exon6:c.A584T:p. D195V TMPRSS11F:NM_20 7407:exon9:c.C1055 T:p.T352I GPD2:NM_000408:e xon4:c.C374T:p.A12 5V,GPD2:NM_00108 3112:exon4:c.C374T :p.A125V POU2F3:NM_00124 4682:exon3:c.G104A :p.G35E,POU2F3:N M_014352:exon3:c. G98A:p.G33E CPS1:NM_001875:e xon12:c.C1178T:p.S 393F,CPS1:NM_001 122633:exon13:c.C1 196T:p.S399F RBL1:NM_002895:e xon15:c.G2029A:p.E 677K,RBL1:NM_183 404:exon15:c.G2029 A:p.E677K LRRC7:NM_020794: exon25:c.G4540A:p. E1514K C1orf116:NM_02393 8:exon3:c.C275T:p.T 92I POLR3GL:NM_0323 05:exon3:c.C247T:p. P83S NA NA NA 100 0 0% 106 50 32.05% NA NA NA 137 0 0% 51 50 49.50% NA NA rs199521 303 58 0 0% 56 51 47.66% NA NA NA 65 0 0% 67 51 43.22% NA NA NA 88 0 0% 94 51 35.17% NA NA NA 92 0 0% 77 51 39.84% NA NA NA 104 0 0% 123 51 29.31% NA NA NA 104 0 0% 98 51 34.23% NA NA NA 107 0 0% 105 51 32.69% ID=COSM1 671511;OC DNAH5:NM_001369: CURENCE nonsynonymo exon73:c.C12625T:p =3(haemat NA us SNV .P4209S opoietic_a nd_lymphoi d_tissue) NA 137 0 0% 120 51 29.82% PLXNA4:NM_02091 nonsynonymo 1:exon21:c.G3895A: us SNV p.D1299N COL4A3BP:NM_005 713:exon6:c.C635T: p.S212F,COL4A3BP COL4A3B nonsynonymo :NM_031361:exon6: P us SNV c.C635T:p.S212F,C OL4A3BP:NM_0011 30105:exon7:c.C101 9T:p.S340F BRIP1:NM_032043:e nonsynonymo BRIP1 xon19:c.C2867T:p.S us SNV 956L nonsynonymo KRT20:NM_019010: KRT20 us SNV exon1:c.G4A:p.D2N CSMD3:NM_052900: exon61:c.G9550A:p. E3184K,CSMD3:NM nonsynonymo _198123:exon63:c.G CSMD3 10057A:p.E3353K,C us SNV SMD3:NM_198124:e xon64:c.G9937A:p.E 3313K SORL1:NM_003105: nonsynonymo SORL1 exon15:c.G2077A:p. us SNV D693N CENPF:NM_016343: nonsynonymo CENPF exon12:c.G1780A:p. us SNV E594K GPR114:NM_15383 nonsynonymo GPR114 7:exon10:c.G1091A: us SNV p.G364E DOPEY2:NM_00512 nonsynonymo DOPEY2 8:exon10:c.C1241T: us SNV p.S414L PCMT1:NM_001252 051:exon3:c.C283A: p.L95I,PCMT1:NM_0 01252049:exon4:c.C nonsynonymo 388A:p.L130I,PCMT PCMT1 us SNV 1:NM_001252053:ex on4:c.C388A:p.L130I ,PCMT1:NM_005389 :exon4:c.C388A:p.L1 30I NA NA NA 216 0 0% 304 51 14.37% NA NA NA 78 0 0% 90 52 36.62% NA NA NA 85 1 1.16% 96 52 35.14% NA NA NA 85 0 0% 91 52 36.36% NA NA NA 95 0 0% 82 52 38.81% NA NA NA 121 0 0% 107 52 32.70% NA NA NA 63 0 0% 88 53 37.59% NA NA NA 76 0 0% 31 53 63.10% NA NA NA 83 0 0% 92 53 36.55% NA NA NA 89 0 0% 93 53 36.30% Index Negative MO_1160 5 108516570 108516570 T A FER Index Negative MO_1160 8 A TEX15 30695179 Index Negative MO_1160 8 17510974 G A MTUS1 Index Negative MO_1160 2 130951775 130951775 G A TUBA3E Index Negative MO_1160 3 178922322 178922322 G A PIK3CA Index Negative MO_1160 8 17510974 30695179 G 69434034 69434034 G A C8orf34 Index Negative MO_1160 6 84269917 84269917 C T SNAP91 Index Negative MO_1160 15 43367224 43367224 G A UBR1 Index Negative MO_1160 2 231624779 231624779 G C CAB39 Index Negative MO_1160 3235195 G A MXRA5 Index Negative MO_1160 5 160763701 160763701 T A GABRB2 Index Negative MO_1160 1 169541548 169541548 C T F5 Index Negative MO_1160 8 113266490 113266490 C T CSMD3 Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 X 3235195 1 183201921 183201921 C 6 146673617 146673617 G 20 3527948 3527948 A T LAMC2 A GRM1 G ATRN FER:NM_005246:ex nonsynonymo on18:c.T2171A:p.I72 us SNV 4N TEX15:NM_031271: nonsynonymo exon3:c.C7472T:p.S us SNV 2491F MTUS1:NM_020749: exon6:c.C746T:p.S2 49L,MTUS1:NM_001 001931:exon8:c.C98 9T:p.S330L,MTUS1: NM_001166393:exo nonsynonymo n8:c.C683T:p.S228L us SNV ,MTUS1:NM_001001 925:exon10:c.C3086 T:p.S1029L,MTUS1: NM_001001924:exo n11:c.C3248T:p.S10 83L TUBA3E:NM_20731 nonsynonymo 2:exon4:c.C640T:p.R us SNV 214W PIK3CA:NM_006218 nonsynonymo :exon6:c.G1091A:p. us SNV G364E C8orf34:NM_001195 639:exon6:c.G766A: nonsynonymo p.E256K,C8orf34:N us SNV M_052958:exon6:c. G766A:p.E256K NA NA NA 108 0 0% 124 53 29.94% NA NA NA 116 0 0% 130 53 28.96% ID=COSM1 097560,CO SM109755 8,COSM10 NA 97559;OC CURENCE =1(endome trium) NA 61 0 0% 83 54 39.42% NA rs147088 601 79 0 0% 53 54 50.47% NA NA 79 0 0% 103 54 34.39% ID=COSM1 700216,CO SM170021 NA 5;OCCUR ENCE=2(s kin) NA 81 0 0% 84 54 39.13% NA NA 91 0 0% 77 54 41.22% NA NA 97 0 0% 50 54 51.92% NA NA 137 0 0% 168 54 24.32% NA NA 65 0 0% 33 55 62.50% NA NA 67 0 0% 92 55 37.41% NA NA 69 0 0% 74 55 42.64% NA NA 112 0 0% 110 55 33.33% ID=COSM1 213060;OC CURENCE NA =2(large_in testine) NA 120 0 0% 116 55 32.16% NA NA 132 0 0% 105 55 34.38% NA NA 170 0 0% 155 55 26.19% NA SNAP91:NM_00124 2794:exon18:c.G161 6A:p.G539E,SNAP9 1:NM_001242793:ex on26:c.G2447A:p.G8 16E,SNAP91:NM_00 1256718:exon26:c.G nonsynonymo 2165A:p.G722E,SNA NA us SNV P91:NM_001242792: exon27:c.G2537A:p. G846E,SNAP91:NM _014841:exon27:c.G 2537A:p.G846E,SNA P91:NM_001256717: exon28:c.G2264A:p. G755E UBR1:NM_174916:e nonsynonymo xon4:c.C481T:p.P16 NA us SNV 1S CAB39:NM_0011308 49:exon2:c.G63C:p. E21D,CAB39:NM_00 nonsynonymo 1130850:exon2:c.G6 NA us SNV 3C:p.E21D,CAB39:N M_016289:exon2:c. G63C:p.E21D ID=COSM1 467639,CO MXRA5:NM_015419: SM146763 nonsynonymo exon6:c.C6527T:p.P 8;OCCUR us SNV 2176L ENCE=1(la rge_intesti ne) GABRB2:NM_00081 3:exon7:c.A617T:p.E nonsynonymo 206V,GABRB2:NM_ NA us SNV 021911:exon7:c.A61 7T:p.E206V nonsynonymo F5:NM_000130:exon NA us SNV 3:c.G284A:p.G95E CSMD3:NM_052900: exon61:c.G9595A:p. G3199R,CSMD3:NM nonsynonymo _198123:exon63:c.G NA 10102A:p.G3368R,C us SNV SMD3:NM_198124:e xon64:c.G9982A:p.G 3328R LAMC2:NM_005562: exon14:c.C2149T:p. nonsynonymo R717W,LAMC2:NM_ us SNV 018891:exon14:c.C2 149T:p.R717W GRM1:NM_0012780 64:exon4:c.G1418A: p.G473E,GRM1:NM_ 001278066:exon4:c. nonsynonymo G1418A:p.G473E,G NA us SNV RM1:NM_001278067 :exon4:c.G1418A:p. G473E,GRM1:NM_0 01278065:exon5:c.G 1418A:p.G473E ATRN:NM_0012070 47:exon5:c.A407G:p. N136S,ATRN:NM_1 nonsynonymo 39321:exon5:c.A755 NA us SNV G:p.N252S,ATRN:N M_139322:exon5:c.A 755G:p.N252S 0.0007987 18194163 18194163 C T BEND2 nonsynonymo us SNV 22 25580965 25580965 G A KIAA1671 nonsynonymo us SNV Negative MO_1160 11 56020087 56020087 G A OR5T3 nonsynonymo us SNV Index Negative MO_1160 21 44521491 44521491 C T U2AF1 nonsynonymo us SNV Index Negative MO_1160 4 187118746 187118746 G A CYP4V2 nonsynonymo us SNV Index Negative MO_1160 77412200 C T RSF1 nonsynonymo us SNV Index Negative MO_1160 1 186326535 186326535 G A TPR nonsynonymo us SNV Index Negative MO_1160 20 34778292 34778292 T G EPB41L1 nonsynonymo us SNV Index Negative MO_1160 14 92091298 92091298 C T CATSPE RB nonsynonymo us SNV Index Negative MO_1160 Index Negative MO_1160 Index X 11 77412200 Index Negative MO_1160 13 35731303 35731303 G A NBEA Index Negative MO_1160 17 11568184 11568184 C T DNAH9 Index Negative MO_1160 20 2779378 2779378 C T CPXM1 Index Negative MO_1160 1 155330115 155330115 G A ASH1L Index Negative MO_1160 17 67039774 67039774 C T ABCA9 Index Negative MO_1160 17 76120244 76120244 G A TMC6 Index Index Negative MO_1160 Negative MO_1160 1 102290666 102290666 C 6 163235294 163235294 G T A NA NA 35 0 0% 22 56 71.79% NA NA NA 74 0 0% 85 56 39.72% NA NA NA 84 0 0% 111 56 33.53% NA NA NA 85 0 0% 96 56 36.84% NA NA NA 88 1 1.12% 37 56 60.22% NA NA NA 97 0 0% 86 56 39.44% NA NA NA 129 1 0.77% 160 56 25.93% NA NA NA 131 0 0% 131 56 29.95% NA NA NA 80 0 0% 89 57 39.04% NA 83 0 0% 38 57 NA 91 0 0% 40 57 58.76% NA 92 0 0% 114 57 33.33% NA 93 0 0% 107 57 34.76% NA 97 1 1.02% 107 57 34.76% NA 108 0 0% 91 57 38.51% 60% OLFM3 OLFM3:NM_001288 821:exon4:c.G568A: p.E190K,OLFM3:NM nonsynonymo _058170:exon4:c.G5 NA us SNV 08A:p.E170K,OLFM 3:NM_001288823:ex on5:c.G283A:p.E95K NA NA 122 0 0% 112 57 33.73% PACRG PACRG:NM_001080 379:exon2:c.G272A: p.G91E,PACRG:NM nonsynonymo _001080378:exon3:c NA us SNV .G272A:p.G91E,PAC RG:NM_152410:exo n3:c.G272A:p.G91E NA NA 124 0 0% 107 57 34.76% NA NA NA 75 0 0% 58 58 NA NA NA 85 0 0% 97 58 37.42% NA NA NA 104 0 0% 66 58 46.77% NA NA NA 111 0 0% 104 58 35.80% NA NA NA 115 0 0% 129 58 31.02% Negative MO_1160 1 225702519 225702519 G A ENAH nonsynonymo us SNV Index Negative MO_1160 6 45073699 45073699 A T SUPT3H nonsynonymo us SNV Index Negative MO_1160 4 73161450 73161450 G A ADAMTS nonsynonymo 3 us SNV Index Negative MO_1160 5 140574328 140574328 C T PCDHB10 nonsynonymo us SNV Index Negative MO_1160 2 T CCDC85A nonsynonymo us SNV 56599543 C NA ID=COSM9 NBEA:NM_015678:e 47008;OC nonsynonymo xon21:c.G2740A:p.E CURENCE NA us SNV 914K =1(endome trium) DNAH9:NM_001372: nonsynonymo exon15:c.C2630T:p. NA NA us SNV S877F CPXM1:NM_001184 699:exon2:c.G334A: nonsynonymo p.E112K,CPXM1:NM NA NA us SNV _019609:exon2:c.G3 34A:p.E112K ASH1L:NM_018489: nonsynonymo exon13:c.C6772T:p. NA NA us SNV H2258Y ABCA9:NM_080283: nonsynonymo exon6:c.G656A:p.G2 NA NA us SNV 19E TMC6:NM_0011271 98:exon9:c.C908T:p. nonsynonymo T303I,TMC6:NM_00 NA NA us SNV 7267:exon9:c.C908T :p.T303I Index 56599543 BEND2:NM_001184 767:exon9:c.G1408A :p.D470N,BEND2:N M_153346:exon11:c. G1681A:p.D561N KIAA1671:NM_0011 45206:exon9:c.G522 1A:p.E1741K OR5T3:NM_0010047 47:exon1:c.G412A:p. G138R U2AF1:NM_0010252 03:exon3:c.G184A:p. A62T CYP4V2:NM_20735 2:exon5:c.G664A:p. A222T RSF1:NM_016578:e xon6:c.G2074A:p.E6 92K TPR:NM_003292:ex on14:c.C1718T:p.S5 73L EPB41L1:NM_00125 8331:exon10:c.T934 G:p.F312V,EPB41L1 :NM_012156:exon10 :c.T1120G:p.F374V, EPB41L1:NM_17799 6:exon10:c.T934G:p. F312V,EPB41L1:NM _001258329:exon11: c.T1120G:p.F374V,E PB41L1:NM_001258 330:exon11:c.T1027 G:p.F343V CATSPERB:NM_024 764:exon18:c.G1796 A:p.G599E ENAH:NM_0010084 93:exon7:c.C997T:p. P333S,ENAH:NM_0 18212:exon7:c.C997 T:p.P333S SUPT3H:NM_00359 9:exon3:c.T146A:p.V 49D,SUPT3H:NM_1 81356:exon5:c.T179 A:p.V60D ADAMTS3:NM_0142 43:exon19:c.C2644T :p.H882Y PCDHB10:NM_0189 30:exon1:c.C2203T: p.P735S CCDC85A:NM_0010 80433:exon4:c.C138 2T:p.S461F 50% Index Negative MO_1160 5 31464360 G A DROSHA:NM_00110 0412:exon19:c.C244 nonsynonymo DROSHA 6T:p.R816C,DROSH NA us SNV A:NM_013235:exon1 9:c.C2557T:p.R853C Index Negative MO_1160 1 111991291 111991291 G C WDR77 Index Negative MO_1160 Index Negative MO_1160 Index 11 X Negative MO_1160 31464360 74419383 74419383 G A CHRDL2 54263821 54263821 G A WNK3 2 179611813 179611813 C T Index Negative MO_1160 16 18844478 18844478 G A Index Negative MO_1160 20 8737724 8737724 C T Index Negative MO_1160 6 27368157 27368157 G A Index Negative MO_1160 2 183616468 183616468 C T Index Negative MO_1160 3 121713115 121713115 G A Index Negative MO_1160 7 12384081 G A Index Negative MO_1160 3 108407525 108407525 C T Index Negative MO_1160 1 Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 12384081 75693480 75693480 T C 21549985 21549985 G A 7 29332561 29332561 C T 12 22001153 22001153 C T 1 175106055 175106055 G A X 15 57913860 57913860 A C TTN NA WDR77:NM_024102 nonsynonymo :exon2:c.C251G:p.A NA NA us SNV 84G CHRDL2:NM_00127 8473:exon5:c.C490T nonsynonymo :p.L164F,CHRDL2:N NA NA us SNV M_015424:exon5:c. C490T:p.L164F ID=COSM1 WNK3:NM_0010028 123346;OC 38:exon20:c.C4037T nonsynonymo CURENCE :p.S1346L,WNK3:N NA us SNV =3(skin),1( M_020922:exon20:c. endometriu C4178T:p.S1393L m) ID=COSM1 TTN:NM_133379:ex nonsynonymo 09466;OC on46:c.G15314A:p.R NA us SNV CURENCE 5105Q =1(skin) ID=COSM1 266283,CO SMG1:NM_015092:e SM126628 nonsynonymo SMG1 xon51:c.C8576T:p.S 2;OCCUR NA us SNV 2859L ENCE=1(o esophagus ) PLCB1:NM_015192: exon24:c.C2555T:p. nonsynonymo PLCB1 P852L,PLCB1:NM_1 NA NA us SNV 82734:exon24:c.C25 55T:p.P852L ZNF391:NM_001076 nonsynonymo ZNF391 NA 781:exon3:c.G8A:p. NA us SNV S3N DNAJC10:NM_0012 71581:exon14:c.C12 nonsynonymo 52T:p.P418S,DNAJC DNAJC10 NA NA us SNV 10:NM_018981:exon 15:c.C1390T:p.P464 S ILDR1:NM_0011998 00:exon4:c.C425T:p. nonsynonymo ILDR1 P142L,ILDR1:NM_00 NA NA us SNV 1199799:exon6:c.C6 92T:p.P231L VWDE:NM_0011359 nonsynonymo VWDE 24:exon20:c.C3901T NA NA us SNV :p.P1301S DZIP3:NM_014648:e nonsynonymo DZIP3 xon30:c.C3356T:p.P NA NA us SNV 1119L SLC44A5:NM_00113 0058:exon13:c.A916 nonsynonymo SLC44A5 G:p.I306V,SLC44A5: NA NA us SNV NM_152697:exon13: c.A916G:p.I306V CNKSR2:NM_00116 8649:exon10:c.G956 A:p.G319E,CNKSR2 :NM_001168647:exo n11:c.G1103A:p.G36 nonsynonymo CNKSR2 8E,CNKSR2:NM_00 NA NA us SNV 1168648:exon11:c.G 1103A:p.G368E,CN KSR2:NM_014927:e xon11:c.G1103A:p.G 368E CHN2:NM_0012930 nonsynonymo CHN2 70:exon2:c.C70T:p.P NA NA us SNV 24S ABCC9:NM_005691: exon23:c.G2797A:p. nonsynonymo ABCC9 E933K,ABCC9:NM_ NA NA us SNV 020297:exon23:c.G2 797A:p.E933K TNN:NM_022093:ex nonsynonymo TNN on17:c.G3526A:p.D1 NA NA us SNV 176N GCOM1:NM_001018 090:exon4:c.A373C: p.M125L,GCOM1:N M_001018091:exon4 :c.A373C:p.M125L,M YZAP:NM_00101810 GCOM1, nonsynonymo 0:exon4:c.A373C:p. NA NA MYZAP us SNV M125L,GCOM1:NM_ 001285900:exon4:c. A373C:p.M125L,MY ZAP:NM_152451:ex on4:c.A373C:p.M125 L NA 120 0 0% 149 58 28.02% NA 124 0 0% 127 58 31.35% NA 135 0 0% 96 58 37.66% NA 51 0 0% 19 59 75.64% rs146359 866 87 0 0% 99 59 37.34% NA 88 0 0% 121 59 32.78% NA 95 0 0% 91 59 39.33% NA 96 0 0% 74 59 44.36% NA 97 0 0% 98 59 37.58% NA 98 0 0% 167 59 26.11% NA 106 0 0% 39 59 60.20% NA 107 0 0% 179 59 24.79% NA 108 0 0% 116 59 33.71% NA 53 0 0% 33 60 64.52% NA 93 0 0% 47 60 56.07% NA 102 0 0% 37 60 61.86% NA 113 0 0% 90 60 NA 114 0 0% 54 60 52.63% 40% Index Negative MO_1160 13 101290221 101290221 A G TMTC4 Index Negative MO_1160 11 62295536 G A AHNAK Index Negative MO_1160 3 154832881 154832881 G A MME Index Negative MO_1160 62295536 4 167833844 167833844 G A TMTC4:NM_001286 453:exon5:c.T407C: p.I136T,TMTC4:NM_ nonsynonymo 001079669:exon7:c. NA us SNV T740C:p.I247T,TMT C4:NM_032813:exon 8:c.T797C:p.I266T AHNAK:NM_001620: nonsynonymo exon5:c.C6353T:p.S NA us SNV 2118F MME:NM_000902:ex on4:c.G295A:p.E99K ,MME:NM_007287:e xon4:c.G295A:p.E99 nonsynonymo K,MME:NM_007288: NA us SNV exon4:c.G295A:p.E9 9K,MME:NM_00728 9:exon4:c.G295A:p. E99K NA NA 131 0 0% 54 60 52.63% NA NA 170 0 0% 148 60 28.85% NA NA 88 0 0% 88 61 40.94% SPOCK3 SPOCK3:NM_00120 4355:exon3:c.C122T :p.S41F,SPOCK3:N M_001204353:exon4 :c.C50T:p.S17F,SPO CK3:NM_001204354 :exon4:c.C134T:p.S4 5F,SPOCK3:NM_00 1040159:exon5:c.C4 nonsynonymo 01T:p.S134F,SPOC NA us SNV K3:NM_001204356:e xon5:c.C401T:p.S13 4F,SPOCK3:NM_00 1204358:exon5:c.C4 01T:p.S134F,SPOC K3:NM_001204352:e xon6:c.C257T:p.S86 F,SPOCK3:NM_016 950:exon6:c.C410T: p.S137F NA NA 95 0 0% 35 61 63.54% NA NA 97 0 0% 109 61 35.88% Index Negative MO_1160 20 20056234 20056234 C T CFAP61 CFAP61:NM_001167 816:exon5:c.C541T: nonsynonymo p.P181S,CFAP61:N NA us SNV M_015585:exon6:c. C541T:p.P181S Index Negative MO_1160 18 72201919 72201919 G A CNDP1 nonsynonymo CNDP1:NM_032649: NA us SNV exon1:c.G17A:p.G6E NA NA 98 0 0% 83 61 42.36% CSMD3 CSMD3:NM_052900: exon24:c.A3820C:p.I 1274L,CSMD3:NM_1 nonsynonymo 98123:exon25:c.A41 NA us SNV 32C:p.I1378L,CSMD 3:NM_198124:exon2 6:c.A4012C:p.I1338L NA NA 106 0 0% 90 61 40.40% NA NA 109 0 0% 113 61 35.06% NA NA 111 0 0% 124 61 32.97% ID=COSM1 36551,CO SM136550; NA OCCUREN CE=1(skin) NA 120 0 0% 135 61 31.12% NA NA 121 0 0% 180 61 25.31% NA NA 153 0 0% 61 61 NA NA 59 0 0% 46 62 57.41% Index Negative MO_1160 8 113569094 113569094 T G Index Negative MO_1160 12 56716218 56716218 G A Index Negative MO_1160 1 95639405 95639405 C T 66204681 PAN2:NM_00112746 0:exon19:c.C2698T: p.P900S,PAN2:NM_ nonsynonymo 001166279:exon19:c PAN2 NA us SNV .C2695T:p.P899S,P AN2:NM_014871:ex on19:c.C2686T:p.P8 96S TMEM56:NM_00119 9679:exon6:c.C433T :p.R145C,TMEM56TMEM56, nonsynonymo RWDD3:NM_001199 TMEM56NA us SNV 691:exon6:c.C433T: RWDD3 p.R145C,TMEM56:N M_152487:exon6:c. C433T:p.R145C Index Negative MO_1160 6 66204681 C T EYS Index Negative MO_1160 3 121134714 121134714 G A STXBP5L Index Negative MO_1160 7 48269433 48269433 C T Index Negative MO_1160 1 63063517 63063517 G A EYS:NM_198283:ex on3:c.G623A:p.G208 E,EYS:NM_0011428 00:exon4:c.G623A:p. nonsynonymo G208E,EYS:NM_001 us SNV 142801:exon4:c.G62 3A:p.G208E,EYS:N M_001292009:exon4 :c.G623A:p.G208E STXBP5L:NM_0149 nonsynonymo 80:exon26:c.G3197A NA us SNV :p.G1066E ABCA13:NM_15270 nonsynonymo ABCA13 1:exon7:c.C644T:p.S NA us SNV 215F ANGPTL3:NM_0144 nonsynonymo ANGPTL3 95:exon1:c.G280A:p. NA us SNV E94K 50% Index Negative MO_1160 Index Negative MO_1160 Index Index Index Index 5 T A Negative MO_1160 11 120351969 120351969 G A Negative MO_1160 14 T Negative MO_1160 7 63726401 58285662 C 63726401 C Negative MO_1160 7 58285662 45686332 18674280 45686332 C 18674280 C 1 115168265 115168265 G 7 123599688 123599688 C PDE4D 79 0 0% 108 62 36.47% NA 93 0 0% 109 62 36.26% NA 105 0 0% 104 62 37.35% NA 110 0 0% 136 62 31.31% T HDAC9 NA NA 114 0 0% 43 62 59.05% A DENND2C:NM_1984 59:exon2:c.C341T:p. DENND2 nonsynonymo S114F,DENND2C:N NA C us SNV M_001256404:exon4 :c.C341T:p.S114F NA NA 147 0 0% 163 62 27.56% T SPAM1 SPAM1:NM_001174 044:exon5:c.C1195T :p.H399Y,SPAM1:N M_001174046:exon5 :c.C1195T:p.H399Y, nonsynonymo SPAM1:NM_003117: NA us SNV exon5:c.C1195T:p.H 399Y,SPAM1:NM_15 3189:exon5:c.C1195 T:p.H399Y,SPAM1:N M_001174045:exon6 :c.C1195T:p.H399Y NA NA 148 0 0% 178 62 25.83% NA NA NA 94 0 0% 122 63 34.05% NA NA NA 98 0 0% 117 63 NA NA NA 111 0 0% 33 63 65.62% NA NA NA 127 0 0% 46 63 57.80% NA NA NA 128 0 0% 50 63 55.75% Index Negative MO_1160 19 57061899 57061899 G A ZFP28 Index Negative MO_1160 2 55047544 55047544 C T EML6 Index Negative MO_1160 12 15262435 15262435 C T RERG Index Negative MO_1160 4 114208834 114208834 G A ANK2 Index Negative MO_1160 T MYOF 95126234 C NA HDAC9:NM_001204 147:exon6:c.C587T: p.S196F,HDAC9:NM _001204145:exon7:c .C686T:p.S229F,HD AC9:NM_001204146 :exon7:c.C695T:p.S2 32F,HDAC9:NM_001 204148:exon7:c.C73 4T:p.S245F,HDAC9: nonsynonymo NM_058176:exon7:c NA us SNV .C818T:p.S273F,HD AC9:NM_178425:ex on7:c.C827T:p.S276 F,HDAC9:NM_01470 7:exon8:c.C818T:p.S 273F,HDAC9:NM_17 8423:exon8:c.C818T :p.S273F,HDAC9:N M_001204144:exon9 :c.C812T:p.S271F Negative MO_1160 95126234 NA ID=COSM1 ZNF679:NM_153363 091163;OC nonsynonymo ZNF679 :exon5:c.C390A:p.S1 CURENCE NA us SNV 30R =1(endome trium) ARHGEF12:NM_001 198665:exon38:c.G4 ARHGEF1 nonsynonymo 181A:p.G1394E,AR NA NA 2 us SNV HGEF12:NM_01531 3:exon39:c.G4238A: p.G1413E MIS18BP1:NM_0183 MIS18BP nonsynonymo 53:exon13:c.G2893A NA NA 1 us SNV :p.V965M Index 10 PDE4D:NM_001197 222:exon5:c.G700A: p.D234N,PDE4D:NM _001197223:exon5:c .G499A:p.D167N,PD E4D:NM_001197221 :exon6:c.G466A:p.D 156N,PDE4D:NM_00 1104631:exon10:c.G 1372A:p.D458N,PDE 4D:NM_001197218:e nonsynonymo xon10:c.G1180A:p.D NA us SNV 394N,PDE4D:NM_00 1197219:exon10:c.G 1006A:p.D336N,PDE 4D:NM_001197220:e xon10:c.G982A:p.D3 28N,PDE4D:NM_006 203:exon10:c.G964A :p.D322N,PDE4D:N M_001165899:exon1 2:c.G1189A:p.D397 N ZFP28:NM_020828: nonsynonymo exon7:c.G823A:p.D2 us SNV 75N EML6:NM_00103975 nonsynonymo 3:exon4:c.C470T:p.S us SNV 157F RERG:NM_0011907 26:exon4:c.G152A:p. nonsynonymo R51K,RERG:NM_03 us SNV 2918:exon5:c.G209A :p.R70K ANK2:NM_001148:e xon19:c.G2153A:p.G 718E,ANK2:NM_020 nonsynonymo 977:exon19:c.G2153 us SNV A:p.G718E,ANK2:N M_001127493:exon2 0:c.G2090A:p.G697 E MYOF:NM_133337:e xon25:c.G2629A:p.G nonsynonymo 877R,MYOF:NM_01 us SNV 3451:exon26:c.G266 8A:p.G890R 35% Index Negative MO_1160 2 152518684 152518684 C T NEB nonsynonymo us SNV Index Negative MO_1160 1 115428875 115428875 G A SYCP1 nonsynonymo us SNV Index Negative MO_1160 28196668 G A ARMC4 nonsynonymo us SNV Index Negative MO_1160 1 119964551 119964551 G A HSD3B2 nonsynonymo us SNV 10 28196668 Index Negative MO_1160 6 110714484 110714484 G A DDO nonsynonymo us SNV Index Negative MO_1160 1 185947027 185947027 G A HMCN1 nonsynonymo us SNV Index Negative MO_1160 11 121177844 121177844 C T SC5D nonsynonymo us SNV Index Negative MO_1160 15 72039380 72039380 C T THSD4 nonsynonymo us SNV Index Negative MO_1160 6 41557579 41557579 C T FOXP4 nonsynonymo us SNV Index Negative MO_1160 3 133377901 133377901 A C TOPBP1 nonsynonymo us SNV Index Negative MO_1160 7 102574959 102574959 A G LRRC17 nonsynonymo us SNV Index Negative MO_1160 4 74274354 74274354 G C ALB nonsynonymo us SNV Index Negative MO_1160 12 49919997 49919997 C T SPATS2 nonsynonymo us SNV Index Negative MO_1160 21 31023457 31023457 A T GRIK1 nonsynonymo us SNV Index Negative MO_1160 4 37962410 37962410 C T PTTG2 nonsynonymo us SNV Index Negative MO_1160 10 95079661 95079661 G A MYOF nonsynonymo us SNV Index Negative MO_1160 12 100612247 100612247 C T ACTR6 nonsynonymo us SNV Index Negative MO_1160 1 202172949 202172949 T G LGR6 nonsynonymo us SNV Index Negative MO_1160 10 105794385 105794385 G A COL17A1 nonsynonymo us SNV Index Negative MO_1160 T ABCA13 nonsynonymo us SNV 7 48237890 48237890 C NEB:NM_001164507 :exon46:c.G5935A:p. V1979I,NEB:NM_00 1164508:exon46:c.G 5935A:p.V1979I,NE B:NM_001271208:ex on46:c.G5935A:p.V1 979I,NEB:NM_00454 3:exon46:c.G5935A: p.V1979I SYCP1:NM_001282 541:exon14:c.G1135 A:p.E379K,SYCP1:N M_001282542:exon1 4:c.G1135A:p.E379K ,SYCP1:NM_003176 :exon14:c.G1135A:p. E379K ARMC4:NM_001290 021:exon10:c.C1109 T:p.S370F,ARMC4:N M_001290020:exon1 7:c.C2534T:p.S845F ,ARMC4:NM_018076 :exon17:c.C2534T:p. S845F HSD3B2:NM_00019 8:exon4:c.G427A:p. E143K,HSD3B2:NM _001166120:exon4:c .G427A:p.E143K DDO:NM_004032:ex on4:c.C427T:p.P143 S,DDO:NM_003649: exon5:c.C604T:p.P2 02S HMCN1:NM_031935 :exon16:c.G2480A:p. R827Q SC5D:NM_00102495 6:exon5:c.C523T:p.L 175F,SC5D:NM_006 918:exon5:c.C523T: p.L175F THSD4:NM_001286 429:exon7:c.C1160T :p.S387L,THSD4:NM _024817:exon12:c.C 2240T:p.S747L FOXP4:NM_001012 426:exon10:c.C1136 T:p.P379L,FOXP4:N M_001012427:exon1 0:c.C1130T:p.P377L ,FOXP4:NM_138457 :exon10:c.C1133T:p. P378L TOPBP1:NM_00702 7:exon3:c.T178G:p. C60G LRRC17:NM_00103 1692:exon2:c.A599G :p.N200S,LRRC17:N M_005824:exon2:c.A 599G:p.N200S ALB:NM_000477:exo n4:c.G314C:p.R105 P SPATS2:NM_00129 3286:exon13:c.C159 7T:p.R533C,SPATS 2:NM_023071:exon1 4:c.C1597T:p.R533C ,SPATS2:NM_00129 3285:exon15:c.C159 7T:p.R533C GRIK1:NM_000830: exon6:c.T935A:p.L3 12H,GRIK1:NM_175 611:exon6:c.T935A: p.L312H PTTG2:NM_006607: exon1:c.C355T:p.P1 19S MYOF:NM_133337:e xon48:c.C5527T:p.P 1843S,MYOF:NM_0 13451:exon49:c.C55 66T:p.P1856S ACTR6:NM_022496: exon9:c.C805T:p.R2 69C LGR6:NM_021636:e xon1:c.T2G:p.M1R COL17A1:NM_0004 94:exon51:c.C3760T :p.L1254F ABCA13:NM_15270 1:exon3:c.C220T:p.L 74F ID=COSM1 158236,CO SM115823 7,COSM33 NA 90066;OC CURENCE =2(pancrea s) NA 148 0 0% 161 63 28.12% NA NA NA 73 0 0% 95 64 40.25% NA NA NA 89 0 0% 41 64 60.95% NA NA NA 94 0 0% 112 64 36.36% ID=COSM2 32143;OC NA CURENCE =1(skin) NA 101 0 0% 78 64 45.07% NA NA NA 109 0 0% 110 64 36.78% NA NA NA 118 0 0% 124 64 34.04% rs146042 172 123 0 0% 85 64 42.95% NA 0.0001997 NA NA NA 161 0 0% 146 64 30.48% NA NA NA 72 0 0% 114 65 36.31% NA NA NA 94 0 0% 88 65 42.48% NA NA NA 99 0 0% 50 65 56.52% NA NA NA 100 0 0% 116 65 35.91% NA NA NA 110 0 0% 94 65 40.88% NA NA NA 112 1 0.88% 152 65 29.95% NA NA NA 123 0 0% 40 65 61.90% NA NA NA 123 0 0% 121 65 34.95% NA NA NA 127 0 0% 124 65 34.39% NA NA NA 149 0 0% 62 65 51.18% NA NA NA 72 0 0% 37 66 64.08% Index Negative MO_1160 6 76412742 76412742 T G SENP6 nonsynonymo us SNV Index Negative MO_1160 15 89070875 89070875 G A DET1 nonsynonymo us SNV Index Negative MO_1160 12 93148019 93148019 G A PLEKHG7 nonsynonymo us SNV Index Negative MO_1160 4 20490558 20490558 G A SLIT2 nonsynonymo us SNV Index Negative MO_1160 20 61941200 61941200 C T COL20A1 nonsynonymo us SNV Index Negative MO_1160 7 141885883 141885883 G A LOC9343 nonsynonymo 2 us SNV Index Negative MO_1160 7 81358987 81358987 G A HGF nonsynonymo us SNV Index Negative MO_1160 11 82644785 82644785 A T DDIAS nonsynonymo us SNV Index Negative MO_1160 1 109197428 109197428 T C HENMT1 nonsynonymo us SNV Index Negative MO_1160 20 3305567 3305567 C T C20orf194 nonsynonymo us SNV Index Negative MO_1160 19 821544 821544 C T LPPR3 nonsynonymo us SNV Index Negative MO_1160 1 176681002 176681002 A G PAPPA2 nonsynonymo us SNV Index Negative MO_1160 108696959 108696959 G A GUCY2F nonsynonymo us SNV Index Negative MO_1160 2323843 G T METTL16 nonsynonymo us SNV Index Negative MO_1160 9 113220765 113220765 C T SVEP1 nonsynonymo us SNV CCDC30 Index Negative MO_1160 X 17 1 2323843 43032145 43032145 A G Index Negative MO_1160 14 70924646 70924646 G A ADAM21 Index Negative MO_1160 6 99848573 99848573 G A PNISR Index Negative MO_1160 1 172558537 172558537 C T SUCO Index Negative MO_1160 5 31299732 31299732 C T CDH6 Index Negative MO_1160 1 43890096 43890096 C T SZT2 Index Negative MO_1160 7 156976671 156976671 C T UBE3C Index Negative MO_1160 12 55820500 55820500 C T OR6C76 Index Negative MO_1160 19 57724230 57724230 C T ZNF264 Index Negative MO_1160 19 39017655 39017655 G C RYR1 SENP6:NM_001100 409:exon18:c.T2649 G:p.S883R,SENP6: NM_015571:exon19: c.T2670G:p.S890R DET1:NM_00114407 4:exon3:c.C1226T:p. P409L,DET1:NM_01 7996:exon4:c.C1259 T:p.P420L PLEKHG7:NM_0010 04330:exon6:c.G469 A:p.E157K SLIT2:NM_00128913 5:exon8:c.G728A:p. R243K,SLIT2:NM_00 1289136:exon8:c.G7 28A:p.R243K,SLIT2: NM_004787:exon8:c .G728A:p.R243K COL20A1:NM_0208 82:exon10:c.C1196T :p.P399L LOC93432:NM_0012 93626:exon35:c.G40 82A:p.R1361Q HGF:NM_000601:ex on8:c.C974T:p.P325 L,HGF:NM_0010109 32:exon8:c.C959T:p. P320L DDIAS:NM_145018: exon6:c.A2405T:p.D 802V HENMT1:NM_00110 2592:exon5:c.A308G :p.D103G,HENMT1: NM_144584:exon5:c .A308G:p.D103G C20orf194:NM_0010 09984:exon14:c.G12 37A:p.E413K LPPR3:NM_0012703 66:exon2:c.G16A:p. E6K,LPPR3:NM_024 888:exon2:c.G16A:p. E6K PAPPA2:NM_02031 8:exon12:c.A3683G: p.N1228S GUCY2F:NM_00152 2:exon4:c.C1162T:p. H388Y METTL16:NM_0240 86:exon10:c.C1110A :p.F370L SVEP1:NM_153366: exon20:c.G3562A:p. E1188K NA NA NA 75 0 0% 107 66 38.15% NA NA NA 106 0 0% 104 66 38.82% NA NA NA 123 0 0% 136 66 32.67% NA NA NA 128 0 0% 126 66 34.38% NA NA NA 141 0 0% 142 66 31.73% 0.0003994 NA 156 1 0.64% 176 66 27.27% NA NA NA NA 91 0 0% 70 67 48.91% NA NA NA 118 0 0% 160 67 29.52% NA NA NA 121 0 0% 125 67 34.90% NA NA NA 125 0 0% 121 67 35.64% NA NA NA 140 0 0% 70 67 48.91% NA NA NA 223 0 0% 189 67 26.17% NA NA NA 78 0 0% 17 68 NA NA NA 80 0 0% 30 68 69.39% NA NA NA 84 0 0% 115 68 37.16% ID=COSM1 CCDC30:NM_00108 nonsynonymo 687542;OC 0850:exon6:c.A854G NA us SNV CURENCE :p.K285R =1(skin) NA 89 0 0% 71 68 48.92% NA NA 103 0 0% 138 68 33.01% NA NA 109 0 0% 118 68 36.56% NA NA 116 0 0% 138 68 33.01% NA NA NA 121 0 0% 117 68 36.76% NA NA NA 148 0 0% 113 68 37.57% NA NA NA 104 1 0.95% 103 69 40.12% NA NA NA 118 0 0% 144 69 32.39% NA NA NA 128 0 0% 130 69 34.67% RYR1:NM_00104272 3:exon71:c.G10634C nonsynonymo :p.R3545P,RYR1:NM NA us SNV _000540:exon72:c.G 10649C:p.R3550P NA NA 129 0 0% 127 69 35.20% ADAM21:NM_00381 nonsynonymo 3:exon2:c.G430A:p. NA us SNV E144K PNISR:NM_015491: exon11:c.C2261T:p. nonsynonymo S754F,PNISR:NM_0 NA us SNV 32870:exon12:c.C22 61T:p.S754F SUCO:NM_0012827 51:exon16:c.C607T: p.P203S,SUCO:NM_ nonsynonymo 016227:exon17:c.C2 NA us SNV 749T:p.P917S,SUC O:NM_014283:exon1 8:c.C2296T:p.P766S CDH6:NM_004932:e nonsynonymo xon5:c.C805T:p.P26 us SNV 9S SZT2:NM_015284:ex nonsynonymo on16:c.C2464T:p.L8 us SNV 22F UBE3C:NM_014671: nonsynonymo exon9:c.C1091T:p.S us SNV 364L OR6C76:NM_00100 nonsynonymo 5183:exon1:c.C463T us SNV :p.P155S ZNF264:NM_003417 nonsynonymo :exon4:c.C1765T:p.L us SNV 589F 80% DYNC1H1:NM_0013 nonsynonymo 76:exon65:c.G11983 NA us SNV A:p.A3995T ITGAD:NM_005353: nonsynonymo exon12:c.G1225A:p. NA us SNV E409K KAT2A:NM_021078: nonsynonymo exon8:c.C1268T:p.S NA us SNV 423F Index Negative MO_1160 14 102507952 102507952 G A DYNC1H1 Index Negative MO_1160 16 31422068 31422068 G A ITGAD Index Negative MO_1160 17 40269948 40269948 G A KAT2A A MCOLN3:NM_00125 3693:exon11:c.C115 nonsynonymo MCOLN3 6T:p.R386C,MCOLN us SNV 3:NM_018298:exon1 2:c.C1324T:p.R442C A DROSHA:NM_00110 0412:exon17:c.C216 nonsynonymo DROSHA 4T:p.R722C,DROSH NA us SNV A:NM_013235:exon1 7:c.C2275T:p.R759C Index Index Negative MO_1160 Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 1 5 85486956 31468137 85486956 G 31468137 G 9 133943578 133943578 C 22 37524863 37524863 G T LAMC3 A IL2RB NA NA 132 0 0% 128 69 35.03% NA NA 136 0 0% 153 69 31.08% NA NA 136 0 0% 143 69 32.55% rs139077 973 138 0 0% 136 69 33.66% NA NA 139 0 0% 127 69 35.20% NA NA 139 0 0% 103 69 40.12% NA NA 156 0 0% 120 69 36.51% NA NA 111 0 0% 130 70 NA NA 131 0 0% 119 70 37.04% ID=COSM1 143134,CO SM581192; NA OCCUREN CE=1(lung) NA 139 0 0% 179 70 28.11% NA NA 143 0 0% 141 70 33.18% NA NA 154 0 0% 60 70 53.85% NA NA 158 0 0% 149 70 31.96% NA NA 108 0 0% 116 71 37.97% NA NA NA 117 0 0% 99 71 41.76% NA NA NA 146 0 0% 174 71 28.98% NA NA NA 153 0 0% 150 71 32.13% NA NA NA 202 0 0% 157 71 31.14% NA NA rs373027 628 221 0 0% 206 71 25.63% NA NA NA 84 0 0% 91 72 44.17% NA NA NA 104 1 0.95% 96 72 42.86% NA NA rs137983 289 109 0 127 72 36.18% ID=COSM6 82896;OC NA CURENCE =1(lung) LAMC3:NM_006059: nonsynonymo exon15:c.C2707T:p. NA us SNV P903S IL2RB:NM_000878:e nonsynonymo xon10:c.C929T:p.S3 NA us SNV 10L Index Negative MO_1160 20 3562887 C T ATRN ATRN:NM_0012070 47:exon16:c.C2302T :p.P768S,ATRN:NM nonsynonymo _139321:exon16:c.C NA us SNV 2650T:p.P884S,ATR N:NM_139322:exon1 6:c.C2650T:p.P884S Index Negative MO_1160 12 104031802 104031802 C T STAB2 STAB2:NM_017564: nonsynonymo exon8:c.C718T:p.P2 NA us SNV 40S UROC1:NM_144639: exon11:c.G982A:p.E nonsynonymo 328K,UROC1:NM_0 us SNV 01165974:exon12:c. G1162A:p.E388K 3562887 Index Negative MO_1160 3 126219701 126219701 C T UROC1 Index Negative MO_1160 2 21251368 21251368 G A APOB Index Negative MO_1160 17 6661499 6661499 C T XAF1 Index Negative MO_1160 1 151280067 151280067 G A PI4KB A ARHGAP9:NM_0010 80156:exon14:c.C13 16T:p.P439L,ARHG ARHGAP nonsynonymo AP9:NM_001080157 NA 9 us SNV :exon15:c.C1868T:p. P623L,ARHGAP9:N M_032496:exon16:c. C1868T:p.P623L Index Negative MO_1160 12 57867875 57867875 G APOB:NM_000384:e nonsynonymo xon13:c.C1660T:p.P NA us SNV 554S XAF1:NM_017523:e xon2:c.C124T:p.P42 nonsynonymo S,XAF1:NM_199139: NA us SNV exon2:c.C124T:p.P4 2S PI4KB:NM_0011987 75:exon2:c.C169T:p. L57F,PI4KB:NM_001 198774:exon3:c.C11 nonsynonymo 20T:p.L374F,PI4KB: NA us SNV NM_001198773:exo n5:c.C1120T:p.L374 F,PI4KB:NM_002651 :exon5:c.C1201T:p.L 401F Index Negative MO_1160 1 156705647 156705647 C T RRNAD1 nonsynonymo us SNV Index Negative MO_1160 5 35806929 35806929 C T SPEF2 nonsynonymo us SNV Index Negative MO_1160 17 45774141 45774141 C T TBKBP1 nonsynonymo us SNV Index Negative MO_1160 12 53881051 53881051 A C MAP3K12 nonsynonymo us SNV Index Negative MO_1160 16 70894751 70894751 C T HYDIN nonsynonymo us SNV Index Negative MO_1160 11 74521263 74521263 C T RNF169 nonsynonymo us SNV Index Negative MO_1160 8 110474001 110474001 G A PKHD1L1 nonsynonymo us SNV Index Negative MO_1160 2 113763601 113763601 C T IL36A nonsynonymo us SNV RRNAD1:NM_00114 2560:exon6:c.C767T :p.P256L,RRNAD1:N M_015997:exon7:c. C1252T:p.P418S SPEF2:NM_024867: exon35:c.C5131T:p. P1711S TBKBP1:NM_01472 6:exon2:c.C290T:p.S 97F MAP3K12:NM_0011 93511:exon2:c.T125 G:p.L42R,MAP3K12: NM_006301:exon2:c .T125G:p.L42R HYDIN:NM_0012709 74:exon70:c.G11831 A:p.R3944Q RNF169:NM_001098 638:exon3:c.C611T: p.S204F PKHD1L1:NM_1775 31:exon48:c.G7247A :p.G2416E IL36A:NM_014440:e xon2:c.C61T:p.R21 W 0% 35% T RIMS2 nonsynonymo us SNV 56388468 G A NLRP4 nonsynonymo us SNV 15072854 15072854 G A SLC1A6 nonsynonymo us SNV 9887545 9887545 G A TXNDC2 nonsynonymo us SNV Negative MO_1160 3 164712162 164712162 A T SI nonsynonymo us SNV Index Negative MO_1160 1 100379202 100379202 C T AGL nonsynonymo us SNV Index Negative MO_1160 7 137206642 137206642 G A DGKI nonsynonymo us SNV Index Negative MO_1160 8 104831781 104831781 C Index Negative MO_1160 19 56388468 Index Negative MO_1160 19 Index Negative MO_1160 18 Index RIMS2:NM_0012828 81:exon1:c.C46T:p.H 16Y,RIMS2:NM_014 677:exon1:c.C46T:p. H16Y NLRP4:NM_134444: exon8:c.G2632A:p.D 878N SLC1A6:NM_005071 :exon5:c.C895T:p.L2 99F,SLC1A6:NM_00 1272088:exon6:c.C8 95T:p.L299F,SLC1A 6:NM_001272087:ex on8:c.C895T:p.L299 F TXNDC2:NM_00109 8529:exon2:c.G1069 A:p.G357S,TXNDC2: NM_032243:exon2:c .G868A:p.G290S SI:NM_001041:exon 41:c.T4724A:p.F157 5Y AGL:NM_000645:ex on28:c.C4018T:p.H1 340Y,AGL:NM_0000 28:exon30:c.C4069T :p.H1357Y,AGL:NM_ 000642:exon30:c.C4 069T:p.H1357Y,AGL :NM_000643:exon30 :c.C4069T:p.H1357Y ,AGL:NM_000644:ex on30:c.C4069T:p.H1 357Y,AGL:NM_0006 46:exon30:c.C4021T :p.H1341Y DGKI:NM_004717:ex on21:c.C2218T:p.H7 40Y SLFN11:NM_152270 :exon4:c.C1306T:p.R 436W,SLFN11:NM_ 001104589:exon5:c. C1306T:p.R436W,S LFN11:NM_0011045 87:exon6:c.C1306T: p.R436W,SLFN11:N M_001104588:exon6 :c.C1306T:p.R436W, SLFN11:NM_001104 590:exon6:c.C1306T :p.R436W FILIP1:NM_015687:e xon5:c.C2572T:p.P8 58S,FILIP1:NM_001 289987:exon6:c.C25 81T:p.P861S MYT1:NM_004535:e xon22:c.G3105A:p.M 1035I NA NA NA 114 0 0% 102 72 41.38% NA NA NA 129 0 0% 138 72 34.29% NA NA NA 135 0 0% 46 72 61.02% NA NA NA 147 0 0% 163 72 30.64% NA NA NA 67 0 0% 35 73 67.59% NA NA NA 107 0 0% 151 73 32.59% NA NA NA 134 0 0% 145 73 33.49% ID=COSM9 77906;OC CURENCE NA =1(endome trium) NA 137 0 0% 154 73 32.16% NA NA NA 140 0 0% 148 73 33.03% Index Negative MO_1160 17 33680971 33680971 G A SLFN11 nonsynonymo us SNV Index Negative MO_1160 6 76022976 76022976 G A FILIP1 nonsynonymo us SNV Index Negative MO_1160 20 62871124 62871124 G A MYT1 nonsynonymo us SNV NA NA NA 142 0 0% 132 73 35.61% MEGF8 MEGF8:NM_001410: exon41:c.C8290T:p. nonsynonymo R2764W,MEGF8:NM NA us SNV _001271938:exon42: c.C8491T:p.R2831W NA NA 165 0 0% 142 73 33.95% NA NA NA 96 1 1.03% 118 74 38.54% NA NA NA 144 0 0% 148 74 33.33% NA NA NA 147 0 0% 135 74 35.41% NA NA NA 151 0 0% 115 74 39.15% NA NA NA 182 0 0% 149 74 33.18% NA NA NA 225 0 0% 192 74 27.82% 89 0 0% 75 Index Negative MO_1160 19 42880880 42880880 C T Index Negative MO_1160 7 126249538 126249538 G A GRM8 nonsynonymo us SNV Index Negative MO_1160 8 145948198 145948198 G A ZNF251 nonsynonymo us SNV Index Negative MO_1160 3 190341156 190341156 C T IL1RAP nonsynonymo us SNV Index Negative MO_1160 4795006 G A C16orf71 nonsynonymo us SNV Index Negative MO_1160 7 100685079 100685079 C T MUC17 nonsynonymo us SNV Index Negative MO_1160 7 135390366 135390366 C T SLC13A4 nonsynonymo us SNV Index Negative MO_1160 11 124096115 124096115 C T OR8G2 nonsynonymo us SNV 16 4795006 GRM8:NM_000845:e xon7:c.C1372T:p.P4 58S,GRM8:NM_001 127323:exon8:c.C13 72T:p.P458S ZNF251:NM_138367 :exon5:c.C847T:p.H2 83Y IL1RAP:NM_001167 929:exon6:c.C727T: p.P243S,IL1RAP:NM _001167930:exon6:c .C727T:p.P243S,IL1 RAP:NM_001167931 :exon7:c.C727T:p.P2 43S,IL1RAP:NM_00 2182:exon7:c.C727T :p.P243S,IL1RAP:N M_134470:exon7:c. C727T:p.P243S,IL1 RAP:NM_001167928 :exon8:c.C727T:p.P2 43S C16orf71:NM_13917 0:exon6:c.G1037A:p. G346E MUC17:NM_001040 105:exon3:c.C10382 T:p.S3461L SLC13A4:NM_01245 0:exon5:c.G571A:p. E191K OR8G2:NM_001291 438:exon1:c.C718T: p.R240C NA 0.0003994 rs201784 816 75 50% Index Negative MO_1160 2 179640532 179640532 G A TTN nonsynonymo us SNV Index Negative MO_1160 6 38875751 38875751 G A DNAH8 nonsynonymo us SNV Index Negative MO_1160 15 29393817 29393817 C T APBA2 nonsynonymo us SNV Index Negative MO_1160 11 58956709 58956709 C T DTX4 nonsynonymo us SNV T Index Negative MO_1160 X 140994683 140994683 C NA NA NA 133 0 0% 109 75 40.76% NA NA rs146541 069 148 0 0% 152 75 33.04% NA NA NA 155 1 0.64% 53 75 58.59% NA NA NA 167 0 0% 134 75 35.89% ID=COSM1 MAGEC1:NM_00546 nonsynonymo 715696;OC MAGEC1 2:exon4:c.C1493T:p. NA us SNV CURENCE S498F =1(skin) NA 67 0 0% 31 76 71.03% Index Negative MO_1160 14 76488722 76488722 C T IFT43 nonsynonymo us SNV Index Negative MO_1160 19 51140521 51140521 C T SYT3 nonsynonymo us SNV Index Negative MO_1160 3 44285796 44285796 G A TOPAZ1 nonsynonymo us SNV Index Negative MO_1160 5 38464002 38464002 C T EGFLAM nonsynonymo us SNV Index Negative MO_1160 20 37252013 37252013 C T ARHGAP nonsynonymo 40 us SNV Index Negative MO_1160 6 159687255 159687255 C G FNDC1 nonsynonymo us SNV SDSL Index Negative MO_1160 12 113875802 113875802 C T IFT43:NM_00110256 4:exon3:c.C200T:p.S 67F,IFT43:NM_0012 55995:exon3:c.C200 T:p.S67F,IFT43:NM_ 052873:exon3:c.C20 0T:p.S67F SYT3:NM_032298:e xon1:c.G148A:p.D50 N,SYT3:NM_001160 328:exon3:c.G148A: p.D50N,SYT3:NM_0 01160329:exon3:c.G 148A:p.D50N TOPAZ1:NM_00114 5030:exon2:c.G1798 A:p.E600K EGFLAM:NM_18280 1:exon6:c.C373T:p.H 125Y,EGFLAM:NM_ 182798:exon17:c.C2 242T:p.H748Y,EGFL AM:NM_152403:exo n22:c.C2944T:p.H98 2Y,EGFLAM:NM_00 1205301:exon23:c.C 2968T:p.H990Y ARHGAP40:NM_001 164431:exon2:c.C14 9T:p.S50F FNDC1:NM_032532: exon21:c.C5424G:p.I 1808M NA NA NA 107 0 0% 130 76 36.89% NA NA NA 109 0 0% 111 76 40.64% NA NA NA 112 0 0% 44 76 63.33% NA NA NA 129 0 0% 144 76 34.55% NA NA NA 137 0 0% 164 76 31.67% NA NA NA 138 0 0% 139 76 35.35% ID=COSM3 SDSL:NM_138432:e nonsynonymo 735459;OC xon9:c.C908T:p.S30 NA us SNV CURENCE 3L =1(skin) NA 148 0 0% 163 76 31.80% Index Negative MO_1160 12 113599716 113599716 C A DDX54 nonsynonymo us SNV Index Negative MO_1160 6 133077077 133077077 A T VNN2 nonsynonymo us SNV Index Negative MO_1160 132161012 132161012 C T USP26 nonsynonymo us SNV Index Negative MO_1160 6 2836476 2836476 G A SERPINB nonsynonymo 1 us SNV Index Negative MO_1160 19 36317460 36317460 C T NPHS1 nonsynonymo us SNV Index Negative MO_1160 17 9804320 9804320 C T RCVRN nonsynonymo us SNV Index Negative MO_1160 2 48950634 48950634 C T LHCGR nonsynonymo us SNV Index Negative MO_1160 19 30308045 30308045 C T CCNE1 nonsynonymo us SNV X TTN:NM_003319:ex on27:c.C5921T:p.S1 974F,TTN:NM_1334 32:exon27:c.C5921T :p.S1974F,TTN:NM_ 133437:exon27:c.C5 921T:p.S1974F,TTN: NM_001256850:exo n28:c.C6059T:p.S20 20F,TTN:NM_00126 7550:exon28:c.C605 9T:p.S2020F,TTN:N M_133378:exon28:c. C6059T:p.S2020F,T TN:NM_133379:exon 28:c.C6059T:p.S202 0F DNAH8:NM_001206 927:exon64:c.G9368 A:p.R3123Q APBA2:NM_0011304 14:exon8:c.C1318T: p.H440Y,APBA2:NM _005503:exon9:c.C1 354T:p.H452Y DTX4:NM_015177:e xon4:c.C1072T:p.P3 58S DDX54:NM_0011113 22:exon18:c.G2282T :p.S761I,DDX54:NM _024072:exon18:c.G 2282T:p.S761I VNN2:NM_00124235 0:exon3:c.T442A:p.S 148T,VNN2:NM_004 665:exon3:c.T442A: p.S148T,VNN2:NM_ 078488:exon4:c.T28 3A:p.S95T USP26:NM_031907: exon1:c.G1237A:p.E 413K SERPINB1:NM_030 666:exon5:c.C433T: p.P145S NPHS1:NM_004646: exon29:c.G3682A:p. E1228K RCVRN:NM_002903 :exon2:c.G479A:p.G 160E LHCGR:NM_000233: exon6:c.G497A:p.G1 66E CCNE1:NM_001238: exon5:c.C182T:p.P6 1L NA NA NA 160 0 0% 174 76 30.40% NA NA NA 172 0 0% 126 76 37.62% NA NA NA 62 0 0% 29 77 72.64% NA NA NA 107 0 0% 119 77 39.29% NA NA NA 124 0 0% 114 77 40.31% NA NA NA 134 0 0% 65 77 54.23% NA NA NA 136 0 0% 156 77 33.05% NA NA NA 140 1 0.71% 118 77 39.49% Index Negative MO_1160 Index Negative MO_1160 12 50367323 50367323 C T AQP6 7 127729560 127729560 C T SND1 Index Negative MO_1160 10 34649181 34649181 C T PARD3 Index Negative MO_1160 17 21438727 21438727 G A C17orf51 Index Negative MO_1160 1 27153534 27153534 A G Index Negative MO_1160 11 73809116 73809116 G A Index Negative MO_1160 15 25928525 25928525 G A Index Negative MO_1160 5 149751569 149751569 G T AQP6:NM_001652:e nonsynonymo xon1:c.C367T:p.P12 NA us SNV 3S SND1:NM_014390:e nonsynonymo xon22:c.C2438T:p.A NA us SNV 813V NA NA 149 0 0% 140 77 35.48% NA NA 185 0 0% 114 77 40.31% NA NA 104 0 0% 44 78 63.93% NA NA NA 135 0 0% 68 78 53.42% NA NA NA 138 0 0% 105 78 42.62% NA NA NA 147 0 0% 140 78 35.78% NA NA NA 148 0 0% 66 78 54.17% TCOF1:NM_001008 657:exon7:c.G640T: p.G214W,TCOF1:N M_001135243:exon7 nonsynonymo :c.G640T:p.G214W, NA us SNV TCOF1:NM_001135 244:exon7:c.G640T: p.G214W,TCOF1:N M_001195141:exon7 :c.G640T:p.G214W NA NA 110 1 0.90% 149 79 34.65% NA NA NA 128 0 0% 119 79 39.90% NA NA NA 131 0 0% 157 79 33.47% NA NA NA 133 0 0% 119 79 39.90% NA NA NA 134 0 0% 136 79 36.74% NA NA NA 138 0 0% 51 79 60.77% PARD3:NM_001184 790:exon11:c.G1543 A:p.E515K,PARD3:N M_001184791:exon1 1:c.G1543A:p.E515K ,PARD3:NM_001184 786:exon12:c.G1675 A:p.E559K,PARD3:N M_001184788:exon1 2:c.G1675A:p.E559K ,PARD3:NM_001184 789:exon12:c.G1675 A:p.E559K,PARD3:N nonsynonymo M_001184794:exon1 NA us SNV 2:c.G1675A:p.E559K ,PARD3:NM_001184 785:exon13:c.G1714 A:p.E572K,PARD3:N M_001184787:exon1 3:c.G1714A:p.E572K ,PARD3:NM_001184 792:exon13:c.G1714 A:p.E572K,PARD3:N M_001184793:exon1 3:c.G1714A:p.E572K ,PARD3:NM_019619 :exon13:c.G1714A:p. E572K C17orf51:NM_00111 nonsynonymo 3434:exon2:c.C500T us SNV :p.A167V ZDHHC18:NM_0322 nonsynonymo ZDHHC18 83:exon1:c.A239G:p. us SNV Y80C C2CD3:NM_001286 577:exon16:c.C2917 nonsynonymo C2CD3 T:p.P973S,C2CD3:N us SNV M_015531:exon16:c. C2917T:p.P973S ATP10A:NM_024490 nonsynonymo ATP10A :exon17:c.C3400T:p. us SNV P1134S TCOF1 Index Negative MO_1160 2 113675341 113675341 C T IL37 nonsynonymo us SNV Index Negative MO_1160 2 163074605 163074605 C T FAP nonsynonymo us SNV Index Negative MO_1160 1 114128179 114128179 G A MAGI3 nonsynonymo us SNV Index Negative MO_1160 5 55398363 55398363 G A ANKRD55 nonsynonymo us SNV Index Negative MO_1160 7 12666398 12666398 G A SCIN nonsynonymo us SNV IL37:NM_173203:ex on2:c.C212T:p.S71F ,IL37:NM_173202:ex on3:c.C332T:p.S111 F,IL37:NM_173204:e xon3:c.C275T:p.S92 F,IL37:NM_173205:e xon3:c.C317T:p.S10 6F,IL37:NM_014439: exon4:c.C395T:p.S1 32F FAP:NM_001291807 :exon8:c.G578A:p.G 193E,FAP:NM_0044 60:exon9:c.G653A:p. G218E MAGI3:NM_0011427 82:exon4:c.G724A:p. D242N,MAGI3:NM_1 52900:exon4:c.G724 A:p.D242N ANKRD55:NM_0246 69:exon11:c.C1681T :p.P561S SCIN:NM_033128:ex on6:c.G430A:p.V144 M,SCIN:NM_001112 706:exon8:c.G1171A :p.V391M Index Negative MO_1160 7 101713650 101713650 C T CUX1 nonsynonymo us SNV Index Negative MO_1160 3 121414690 121414690 C T GOLGB1 nonsynonymo us SNV Index Negative MO_1160 8 20077788 C T ATP6V1B nonsynonymo 2 us SNV Index Negative MO_1160 1 196695968 196695968 G A CFH nonsynonymo us SNV Index Negative MO_1160 11 123994494 123994494 C T VWA5A nonsynonymo us SNV Index Negative MO_1160 17 61767665 61767665 G A MAP3K3 nonsynonymo us SNV Index Negative MO_1160 8 23294493 23294493 C T ENTPD4 nonsynonymo us SNV Index Negative MO_1160 1 116243876 116243876 C T CASQ2 nonsynonymo us SNV Index Negative MO_1160 3 56207548 C T ERC2 nonsynonymo us SNV Index Negative MO_1160 12 124343770 124343770 G A DNAH10 nonsynonymo us SNV Index Negative MO_1160 2 224856562 224856562 A T SERPINE nonsynonymo 2 us SNV Index Negative MO_1160 8 38173491 A C WHSC1L nonsynonymo 1 us SNV Index Negative MO_1160 8 145577087 145577087 G A TMEM249 nonsynonymo us SNV Index Negative MO_1160 22 21348496 C T LZTR1 nonsynonymo us SNV Index Negative MO_1160 11 108384000 108384000 G A EXPH5 nonsynonymo us SNV Index Negative MO_1160 13 102231757 102231757 G A ITGBL1 nonsynonymo us SNV Index Negative MO_1160 3 119248764 119248764 C T CD80 nonsynonymo us SNV Index Negative MO_1160 9 109686609 109686609 C T ZNF462 nonsynonymo us SNV 20077788 56207548 38173491 21348496 CUX1:NM_00120254 4:exon3:c.C206T:p.A 69V,CUX1:NM_0012 02546:exon3:c.C143 T:p.A48V,CUX1:NM_ 001202543:exon4:c. C254T:p.A85V,CUX1 :NM_001202545:exo n4:c.C254T:p.A85V, CUX1:NM_001913:e xon4:c.C254T:p.A85 V,CUX1:NM_181500 :exon4:c.C254T:p.A8 5V,CUX1:NM_18155 2:exon4:c.C221T:p.A 74V GOLGB1:NM_00125 6488:exon12:c.G444 0A:p.M1480I,GOLG B1:NM_001256486:e xon13:c.G4680A:p.M 1560I,GOLGB1:NM_ 001256487:exon13:c .G4563A:p.M1521I,G OLGB1:NM_004487: exon13:c.G4665A:p. M1555I ATP6V1B2:NM_001 693:exon14:c.C1411 T:p.R471C CFH:NM_000186:ex on14:c.G2134A:p.G7 12R VWA5A:NM_014622 :exon9:c.C1147T:p.P 383S,VWA5A:NM_1 98315:exon9:c.C114 7T:p.P383S,VWA5A: NM_001130142:exo n10:c.C1147T:p.P38 3S MAP3K3:NM_00240 1:exon12:c.G1105A: p.G369S,MAP3K3:N M_203351:exon13:c. G1198A:p.G400S ENTPD4:NM_00112 8930:exon10:c.G130 4A:p.R435Q,ENTPD 4:NM_004901:exon1 0:c.G1328A:p.R443 Q CASQ2:NM_001232: exon11:c.G1186A:p. D396N ERC2:NM_015576:e xon4:c.G1075A:p.E3 59K DNAH10:NM_20743 7:exon37:c.G6350A: p.G2117E SERPINE2:NM_001 136528:exon4:c.T64 3A:p.Y215N,SERPIN E2:NM_001136530:e xon4:c.T679A:p.Y22 7N,SERPINE2:NM_0 06216:exon4:c.T643 A:p.Y215N WHSC1L1:NM_0230 34:exon10:c.T1925G :p.M642R TMEM249:NM_0012 52402:exon5:c.C629 T:p.P210L,TMEM24 9:NM_001280561:ex on6:c.C629T:p.P210 L LZTR1:NM_006767: exon14:c.C1553T:p. A518V EXPH5:NM_015065: exon6:c.C2234T:p.P 745L ITGBL1:NM_001271 754:exon4:c.G283A: p.G95S,ITGBL1:NM _001271755:exon4:c .G559A:p.G187S,IT GBL1:NM_00127175 6:exon4:c.G427A:p. G143S,ITGBL1:NM_ 004791:exon5:c.G70 6A:p.G236S CD80:NM_005191:e xon5:c.G721A:p.D24 1N ZNF462:NM_021224 :exon3:c.C416T:p.S1 39L NA NA NA 145 0 0% 144 79 35.43% NA NA NA 93 0 0% 181 80 30.65% NA NA NA 127 0 0% 167 80 32.39% NA NA NA 130 0 0% 135 80 37.21% NA NA NA 131 0 0% 116 80 40.82% NA NA NA 144 0 0% 134 80 37.38% NA NA NA 175 0 0% 165 80 32.65% NA NA NA 186 1 0.53% 157 80 33.76% NA NA NA 190 0 0% 61 80 56.74% NA NA NA 135 0 0% 130 81 38.39% NA NA NA 139 1 0.71% 115 81 41.33% NA NA NA 140 0 0% 130 81 38.39% NA NA NA 140 0 0% 122 81 39.90% NA NA NA 140 0 0% 160 81 33.61% NA NA NA 143 0 0% 161 81 33.47% NA NA NA 145 0 0% 56 81 59.12% NA NA NA 152 0 0% 223 81 26.64% NA NA NA 156 0 0% 190 81 29.89% Index Negative MO_1160 Index Negative MO_1160 7 128849148 128849148 C X 71354033 71354033 C T SMO T NHSL2 Index Negative MO_1160 9 8340354 8340354 C T PTPRD Index Negative MO_1160 19 40521000 40521000 C T ZNF546 Index Negative MO_1160 2 96963187 96963187 G A Index Negative MO_1160 2 27717519 27717519 G A Negative MO_1160 2 215595167 215595167 G A BARD1 Index Negative MO_1160 6 56966576 56966576 C G ZNF451 Index Negative MO_1160 11 10050059 10050059 G A SBF2 Index Negative MO_1160 11 61183796 61183796 G A CPSF7 Index Negative MO_1160 6 30919050 30919050 C T DPCR1 Index Negative MO_1160 17 41719378 41719378 C T Index Negative MO_1160 18 67794750 67794750 G A Index Negative MO_1160 2 38804623 38804623 G A Index Negative MO_1160 16 58437126 58437126 C T Index Negative MO_1160 8 3216787 3216787 C T Negative MO_1160 Index Negative MO_1160 Index Index 5 140725783 140725783 C 10 45499454 T 45499454 C T Negative MO_1160 3 130137713 130137713 G A Negative MO_1160 3 175042015 175042015 C T NA 180 0 0% 139 81 36.82% NA 83 0 0% 17 82 82.83% NA NA 125 1 0.79% 47 82 63.57% NA NA 138 0 0% 146 82 35.96% NA NA 145 1 0.68% 165 82 33.20% NA NA 150 0 0% 113 82 42.05% NA NA 171 0 0% 170 82 32.54% NA NA 269 1 0.37% 336 82 19.62% NA NA 108 0 0% 45 83 64.84% NA NA 122 1 0.81% 114 83 42.13% NA NA NA 139 0 0% 123 83 40.29% NA NA rs150792 046 139 0 0% 112 83 42.56% NA NA NA 149 0 0% 130 83 38.97% NA NA NA 150 0 0% 115 84 42.21% NA NA NA 152 0 0% 83 84 50.30% NA NA NA 189 0 0% 169 84 33.20% ID=COSM1 486416;OC NA CURENCE =1(breast) NA 210 0 0% 154 84 35.29% NA NA NA 134 0 0% 49 85 63.43% NA NA NA 143 0 0% 232 85 26.81% 0.0001997 NA 152 0 0% 147 85 36.64% PTPRD:NM_001171 025:exon25:c.G4021 A:p.E1341K,PTPRD: NM_130393:exon25: c.G3994A:p.E1332K, PTPRD:NM_001040 712:exon26:c.G4012 nonsynonymo A:p.E1338K,PTPRD: NA us SNV NM_130391:exon27: c.G4021A:p.E1341K, PTPRD:NM_130392: exon27:c.G4024A:p. E1342K,PTPRD:NM _002839:exon42:c.G 5242A:p.E1748K ZNF546:NM_178544 nonsynonymo :exon7:c.C1823T:p.P NA us SNV 608L SNRNP200:NM_014 SNRNP20 nonsynonymo 014:exon11:c.C1291 NA 0 us SNV T:p.P431S FNDC4:NM_022823: nonsynonymo FNDC4 exon2:c.C28T:p.P10 NA us SNV S Index Index ID=COSM3 SMO:NM_005631:ex 942016;OC nonsynonymo on8:c.C1376T:p.A45 CURENCE NA us SNV 9V =1(oesoph agus) NHSL2:NM_0010136 nonsynonymo 27:exon3:c.C529T:p. NA NA us SNV P177S BARD1:NM_001282 549:exon4:c.C430T: p.P144S,BARD1:NM _001282548:exon5:c .C559T:p.P187S,BA nonsynonymo RD1:NM_001282545 NA us SNV :exon6:c.C616T:p.P2 06S,BARD1:NM_001 282543:exon9:c.C19 12T:p.P638S,BARD1 :NM_000465:exon10 :c.C1969T:p.P657S ZNF451:NM_001257 nonsynonymo 273:exon4:c.C1362G NA us SNV :p.D454E SBF2:NM_030962:e nonsynonymo xon6:c.C559T:p.P18 NA us SNV 7S CPSF7:NM_0011360 40:exon6:c.C746T:p. S249F,CPSF7:NM_0 nonsynonymo 01142565:exon6:c.C NA us SNV 719T:p.S240F,CPSF 7:NM_024811:exon6 :c.C875T:p.S292F DPCR1:NM_080870: nonsynonymo exon2:c.C2809T:p.P us SNV 937S MEOX1:NM_004527: exon3:c.G665A:p.R2 nonsynonymo MEOX1 22Q,MEOX1:NM_00 us SNV 1040002:exon4:c.G3 20A:p.R107Q RTTN:NM_173630:e nonsynonymo RTTN xon25:c.C3371T:p.T us SNV 1124I HNRNPLL:NM_1383 94:exon7:c.C854T:p. nonsynonymo HNRNPLL S285L,HNRNPLL:N us SNV M_001142650:exon8 :c.C839T:p.S280L GINS3:NM_022770: exon2:c.C311T:p.P1 nonsynonymo GINS3 04L,GINS3:NM_001 us SNV 126129:exon3:c.C42 8T:p.P143L CSMD1:NM_033225: nonsynonymo CSMD1 exon21:c.G3191A:p. us SNV G1064E PCDHGA3:NM_0189 16:exon1:c.C2183T: PCDHGA nonsynonymo p.S728L,PCDHGA3: 3 us SNV NM_032011:exon1:c .C2183T:p.S728L ZNF22:NM_006963: nonsynonymo ZNF22 exon2:c.C638T:p.A2 us SNV 13V COL6A5:NM_00127 8298:exon25:c.G488 nonsynonymo 8A:p.G1630R,COL6 COL6A5 us SNV A5:NM_153264:exon 25:c.G4888A:p.G163 0R NAALADL2:NM_207 NAALADL nonsynonymo 015:exon5:c.C991T: 2 us SNV p.P331S NA POU2F3:NM_00124 4682:exon2:c.G50A: p.G17E,POU2F3:NM _014352:exon2:c.G4 4A:p.G15E TRPM6:NM_001177 310:exon24:c.G3361 A:p.D1121N,TRPM6: NM_001177311:exo n24:c.G3361A:p.D11 21N,TRPM6:NM_01 7662:exon24:c.G337 6A:p.D1126N SLC15A2:NM_02108 2:exon4:c.G418T:p. V140L GPR15:NM_005290: exon1:c.C569T:p.P1 90L PTPRQ:NM_001145 026:exon22:c.G3532 A:p.A1178T TAF8:NM_138572:ex on5:c.C460T:p.P154 S KIAA1109:NM_0153 12:exon38:c.C6244T :p.P2082S RNF133:NM_139175 :exon1:c.G895A:p.D 299N RP1:NM_006269:ex on4:c.C3385T:p.L11 29F A POU2F3 nonsynonymo us SNV 77390826 C T TRPM6 nonsynonymo us SNV Negative MO_1160 3 121630503 121630503 G T SLC15A2 nonsynonymo us SNV Index Negative MO_1160 3 98251446 98251446 C T GPR15 nonsynonymo us SNV Index Negative MO_1160 12 80943276 80943276 G A PTPRQ nonsynonymo us SNV Index Negative MO_1160 6 42025222 42025222 C T TAF8 nonsynonymo us SNV Index Negative MO_1160 4 123176304 123176304 C T KIAA1109 nonsynonymo us SNV Index Negative MO_1160 7 122338078 122338078 C T RNF133 nonsynonymo us SNV Index Negative MO_1160 8 T RP1 nonsynonymo us SNV WDR87 WDR87:NM_001291 088:exon6:c.G3850A nonsynonymo :p.D1284N,WDR87: us SNV NM_031951:exon6:c .G3733A:p.D1245N Index Negative MO_1160 Index Negative MO_1160 9 Index Index 11 120117173 120117173 G Negative MO_1160 19 77390826 55539827 38380461 55539827 C 38380461 C T Index Negative MO_1160 1 62676553 62676553 C T L1TD1 nonsynonymo us SNV Index Negative MO_1160 1 12144525 12144525 G A TNFRSF8 nonsynonymo us SNV Index Negative MO_1160 3 124153173 124153173 C T KALRN nonsynonymo us SNV Index Negative MO_1160 6 72806764 72806764 C T RIMS1 nonsynonymo us SNV Index Negative MO_1160 16 27455978 27455978 C T IL21R nonsynonymo us SNV Index Negative MO_1160 1 114449769 114449769 C T DCLRE1B nonsynonymo us SNV Index Negative MO_1160 35261991 C T SLA2 nonsynonymo us SNV Index Negative MO_1160 7 141740555 141740555 G A MGAM nonsynonymo us SNV Index Negative MO_1160 2 149829888 149829888 G A KIF5C nonsynonymo us SNV Index Negative MO_1160 16 19498602 C T TMC5 nonsynonymo us SNV Index Negative MO_1160 12 117993089 117993089 C T KSR2 nonsynonymo us SNV Index Negative MO_1160 153660768 153660768 C T ATP6AP1 nonsynonymo us SNV Index Negative MO_1160 4 6051554 6051554 C T JAKMIP1 nonsynonymo us SNV Index Negative MO_1160 6 31548772 31548772 C T LTB nonsynonymo us SNV Index Negative MO_1160 6 37430742 37430742 G A CMTR1 nonsynonymo us SNV 20 X 35261991 19498602 L1TD1:NM_019079: exon4:c.C2107T:p.R 703C,L1TD1:NM_00 1164835:exon5:c.C2 107T:p.R703C TNFRSF8:NM_0012 43:exon2:c.G68A:p. R23Q KALRN:NM_001024 660:exon17:c.C2843 T:p.S948F,KALRN:N M_003947:exon17:c. C2843T:p.S948F RIMS1:NM_014989: exon3:c.C358T:p.H1 20Y IL21R:NM_021798:e xon6:c.C623T:p.S20 8F,IL21R:NM_18107 8:exon6:c.C623T:p.S 208F,IL21R:NM_181 079:exon7:c.C689T: p.S230F DCLRE1B:NM_0228 36:exon2:c.C341T:p. T114I SLA2:NM_032214:ex on4:c.G233A:p.R78K ,SLA2:NM_175077:e xon4:c.G233A:p.R78 K MGAM:NM_004668: exon21:c.G2407A:p. E803K KIF5C:NM_004522:e xon12:c.G1156A:p.D 386N TMC5:NM_024780:e xon13:c.C1789T:p.P 597S,TMC5:NM_001 105248:exon17:c.C2 527T:p.P843S,TMC5 :NM_001105249:exo n17:c.C2527T:p.P84 3S,TMC5:NM_00126 1841:exon17:c.C252 7T:p.P843S KSR2:NM_173598:e xon9:c.G1316A:p.R4 39K ATP6AP1:NM_0011 83:exon4:c.C520T:p. P174S JAKMIP1:NM_00109 9433:exon15:c.G195 4A:p.D652N LTB:NM_002341:exo n4:c.G449A:p.G150 E CMTR1:NM_015050: exon13:c.G1463A:p. G488E NA NA NA 158 0 0% 172 85 33.07% NA NA NA 161 0 0% 131 85 39.35% NA NA NA 164 1 0.61% 225 85 27.42% NA NA NA 185 0 0% 280 85 23.29% NA NA NA 186 0 0% 184 85 31.60% NA NA NA 194 0 0% 164 85 34.14% NA NA NA 141 0 0% 62 86 58.11% NA NA NA 148 0 0% 132 86 39.45% NA NA NA 158 0 0% 139 86 38.22% ID=COSM1 232694;OC CURENCE NA =1(large_in testine) NA 167 0 0% 143 86 37.55% 0.0001997 NA 129 0 0% 123 87 41.43% NA NA NA NA 158 0 0% 150 87 36.71% NA NA NA 164 1 0.61% 200 87 30.31% NA NA NA 167 0 0% 184 87 32.10% NA NA NA 169 1 0.59% 174 87 33.33% NA NA NA 169 0 0% 164 87 34.66% NA NA NA 172 0 0% 137 87 38.84% NA NA NA 175 0 0% 160 87 35.22% NA NA NA 176 0 0% 158 87 35.51% NA NA NA 199 1 0.50% 185 87 31.99% NA NA NA 218 1 0.46% 228 87 27.62% NA NA NA 107 0 0% 41 88 68.22% NA NA NA 121 0 0% 160 88 35.48% NA NA NA 127 0 0% 119 88 42.51% NA NA NA 145 0 0% 112 88 44% Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index 14 23846479 C T CMTM5 8 124978249 124978249 C T FER1L6 A BAIAP3 16 Negative MO_1160 19 23846479 1391824 36317508 1391824 G 36317508 C T NPHS1 CMTM5:NM_001037 288:exon1:c.C19T:p. R7C,CMTM5:NM_00 1288744:exon1:c.C1 9T:p.R7C,CMTM5:N nonsynonymo M_001288745:exon1 NA us SNV :c.C19T:p.R7C,CMT M5:NM_001288746: exon1:c.C19T:p.R7C ,CMTM5:NM_13846 0:exon1:c.C19T:p.R7 C FER1L6:NM_001039 nonsynonymo 112:exon4:c.C200T: NA us SNV p.S67L BAIAP3:NM_001199 096:exon9:c.G733A: p.E245K,BAIAP3:NM _001199097:exon9:c .G733A:p.E245K,BAI AP3:NM_001199098 :exon9:c.G664A:p.E nonsynonymo 222K,BAIAP3:NM_0 NA us SNV 01199099:exon9:c.G 649A:p.E217K,BAIA P3:NM_001286464:e xon9:c.G784A:p.E26 2K,BAIAP3:NM_003 933:exon9:c.G838A: p.E280K FCGR2A nonsynonymo us SNV 35651678 C T FXYD5 nonsynonymo us SNV Negative MO_1160 13 103446062 103446062 C G KDELC1 nonsynonymo us SNV Index Negative MO_1160 11 60563131 60563131 C T MS4A10 nonsynonymo us SNV Index Negative MO_1160 11 55999997 55999997 G A OR5T2 nonsynonymo us SNV Index Negative MO_1160 18 8819187 8819187 C T MTCL1 nonsynonymo us SNV Index Negative MO_1160 20 36012654 36012654 C T SRC nonsynonymo us SNV Index Negative MO_1160 7 100608801 100608801 G A MUC3A nonsynonymo us SNV Index Negative MO_1160 5 37183107 37183107 C T C5orf42 nonsynonymo us SNV Index Negative MO_1160 17 4449236 4449236 G A MYBBP1 A nonsynonymo us SNV Index Negative MO_1160 17 1486605 1486605 C G SLC43A2 nonsynonymo us SNV Index Negative MO_1160 19 46299273 46299273 G A RSPH6A nonsynonymo us SNV Negative MO_1160 Index Negative MO_1160 19 Index Index Negative MO_1160 Index Negative MO_1160 1 161476222 161476222 G 10 X 35651678 91162817 G A IFIT1 nonsynonymo us SNV 132161797 132161797 C T USP26 nonsynonymo us SNV 91162817 NA 157 0 0% 137 88 39.11% NA NA 158 0 0% 131 88 40.18% rs201030 421 162 0 0% 152 88 36.67% NA 170 0 0% 148 88 37.29% 0.0001997 ID=COSM1 NPHS1:NM_004646: nonsynonymo 712178;OC exon29:c.G3634A:p. NA us SNV CURENCE D1212N =1(skin) A Index NA FCGR2A:NM_00113 6219:exon3:c.G205A :p.E69K,FCGR2A:N M_021642:exon3:c. G202A:p.E68K FXYD5:NM_0011646 05:exon5:c.C266T:p. P89L,FXYD5:NM_01 4164:exon5:c.C266T :p.P89L,FXYD5:NM_ 144779:exon5:c.C26 6T:p.P89L KDELC1:NM_02408 9:exon3:c.G483C:p. Q161H MS4A10:NM_20689 3:exon6:c.C596T:p.S 199F OR5T2:NM_0010047 46:exon1:c.C665T:p. P222L MTCL1:NM_015210: exon13:c.C3086T:p. S1029F SRC:NM_005417:ex on4:c.C98T:p.P33L, SRC:NM_198291:ex on4:c.C98T:p.P33L MUC3A:NM_005960: exon8:c.G4010A:p.R 1337H C5orf42:NM_023073 :exon26:c.G5176A:p. D1726N MYBBP1A:NM_0011 05538:exon14:c.C18 26T:p.S609F,MYBB P1A:NM_014520:exo n14:c.C1826T:p.S60 9F SLC43A2:NM_00128 4499:exon7:c.G832C :p.D278H,SLC43A2: NM_152346:exon11: c.G1243C:p.D415H, SLC43A2:NM_00128 4498:exon12:c.G125 5C:p.D419H RSPH6A:NM_03078 5:exon6:c.C2008T:p. P670S IFIT1:NM_001548:ex on2:c.G785A:p.R262 Q,IFIT1:NM_001270 927:exon3:c.G785A: p.R262Q,IFIT1:NM_ 001270928:exon3:c. G692A:p.R231Q,IFIT 1:NM_001270929:ex on3:c.G692A:p.R231 Q,IFIT1:NM_001270 930:exon3:c.G692A: p.R231Q USP26:NM_031907: exon1:c.G452A:p.G1 51E NA NA NA 181 0 0% 159 88 35.63% NA NA NA 155 0 0% 148 89 37.55% NA NA NA 168 0 0% 57 89 60.96% NA NA NA 174 0 0% 160 89 35.74% NA NA NA 184 0 0% 186 89 32.36% NA NA NA 224 0 0% 175 89 33.71% NA NA NA 221 0 0% 139 90 39.30% NA NA NA 674 1 0.15% 727 90 11.02% NA NA NA 124 0 0% 167 91 35.27% NA NA NA 146 0 0% 61 91 59.87% NA NA NA 162 0 0% 81 91 52.91% NA NA NA 194 0 0% 231 91 28.26% ID=COSM9 21270;OC CURENCE NA =1(endome trium) NA 254 0 0% 121 91 42.92% NA NA 75 0 0% 33 92 73.60% NA Index Negative MO_1160 2 179430142 179430142 C T TTN nonsynonymo us SNV Index Negative MO_1160 6 90383051 90383051 C A MDN1 nonsynonymo us SNV Index Negative MO_1160 19 50128763 50128763 G A PRR12 nonsynonymo us SNV Index Negative MO_1160 2 113888694 113888694 C T IL1RN nonsynonymo us SNV Index Negative MO_1160 3 98002110 C T OR5H2 Index Negative MO_1160 5 176523669 176523669 C T FGFR4 Index Negative MO_1160 18 55027359 55027359 G A ST8SIA3 Index Negative MO_1160 8 17822250 17822250 C T PCM1 Index Negative MO_1160 12 51887549 51887549 G A SLC4A8 Index Negative MO_1160 12 106903245 106903245 C T POLR3B Index Negative MO_1160 7 151478298 151478298 G A PRKAG2 Index Negative MO_1160 1 158299435 158299435 T C CD1B Index Negative MO_1160 A CST4 Index Negative MO_1160 20 12 98002110 23669602 75601109 23669602 G 75601109 A G KCNC2 TTN:NM_003319:ex on154:c.G53522A:p. R17841Q,TTN:NM_1 33432:exon155:c.G5 3897A:p.R17966Q,T TN:NM_133437:exon 155:c.G54098A:p.R1 8033Q,TTN:NM_133 378:exon275:c.G730 13A:p.R24338Q,TTN :NM_001256850:exo n276:c.G75794A:p.R 25265Q,TTN:NM_00 1267550:exon326:c. G80717A:p.R26906 Q MDN1:NM_014611:e xon80:c.G13378T:p. V4460F PRR12:NM_020719: exon14:c.G6010A:p. V2004M IL1RN:NM_173842:e xon3:c.C278T:p.S93 F,IL1RN:NM_000577 :exon4:c.C224T:p.S7 5F,IL1RN:NM_17384 1:exon5:c.C287T:p.S 96F,IL1RN:NM_1738 43:exon5:c.C176T:p. S59F NA 0.0001997 NA 161 0 0% 184 92 33.33% NA NA NA 170 0 0% 170 92 35.11% NA NA NA 186 0 0% 156 92 37.10% NA NA NA 187 0 0% 155 92 37.25% NA 190 1 0.52% 272 92 25.27% NA 200 0 0% 170 92 35.11% NA 240 0 0% 203 92 31.19% NA 111 0 0% 165 93 36.05% NA 141 0 0% 163 93 36.33% NA 150 1 0.66% 122 93 43.26% NA 155 0 0% 122 93 43.26% NA 166 0 0% 147 93 38.75% NA 186 0 0% 157 93 37.20% NA 210 0 0% 218 93 29.90% ID=COSM2 OR5H2:NM_001005 950316;OC nonsynonymo 482:exon1:c.C379T: CURENCE NA us SNV p.R127C =1(urinary_ tract) FGFR4:NM_022963: exon14:c.C1960T:p. P654S,FGFR4:NM_0 01291980:exon16:c. nonsynonymo C1876T:p.P626S,FG NA NA us SNV FR4:NM_002011:exo n16:c.C2080T:p.P69 4S,FGFR4:NM_2136 47:exon16:c.C2080T :p.P694S ST8SIA3:NM_01587 nonsynonymo 9:exon4:c.G994A:p. NA NA us SNV E332K PCM1:NM_006197:e nonsynonymo xon18:c.C2828T:p.S NA NA us SNV 943F SLC4A8:NM_001039 960:exon20:c.G2762 nonsynonymo A:p.G921E,SLC4A8: NA NA us SNV NM_001258401:exo n20:c.G2603A:p.G86 8E POLR3B:NM_00116 ID=COSM9 0708:exon28:c.C314 34417;OC nonsynonymo 6T:p.P1049L,POLR3 CURENCE NA us SNV B:NM_018082:exon2 =1(endome 8:c.C3320T:p.P1107 trium) L PRKAG2:NM_00104 0633:exon3:c.C274T nonsynonymo :p.P92S,PRKAG2:N NA NA us SNV M_016203:exon3:c. C406T:p.P136S CD1B:NM_001764:e nonsynonymo xon4:c.A611G:p.K20 NA NA us SNV 4R nonsynonymo CST4:NM_001899:e NA NA us SNV xon1:c.C5T:p.A2V KCNC2:NM_001260 497:exon2:c.T655C: p.F219L,KCNC2:NM _001260498:exon2:c .T655C:p.F219L,KC NC2:NM_001260499 nonsynonymo :exon2:c.T655C:p.F2 NA us SNV 19L,KCNC2:NM_139 136:exon2:c.T655C: p.F219L,KCNC2:NM _139137:exon2:c.T6 55C:p.F219L,KCNC2 :NM_153748:exon2: c.T655C:p.F219L NA A CHRM2 nonsynonymo us SNV 77844432 C T SAMD15 nonsynonymo us SNV 56864630 56864630 G A LYN nonsynonymo us SNV 3 38674545 38674545 G A SCN5A nonsynonymo us SNV 12 80645978 80645978 G A OTOGL nonsynonymo us SNV Negative MO_1160 1 156851270 156851270 G A NTRK1 nonsynonymo us SNV Index Negative MO_1160 2 179614853 179614853 G A TTN nonsynonymo us SNV Index Negative MO_1160 2 166243455 166243455 C T SCN2A nonsynonymo us SNV Index Negative MO_1160 3 48559426 48559426 C T PFKFB4 nonsynonymo us SNV Index Negative MO_1160 16 70942260 70942260 C T HYDIN nonsynonymo us SNV Index Negative MO_1160 7 91630939 91630939 G A AKAP9 nonsynonymo us SNV Index Negative MO_1160 5 173531328 173531328 G A HMP19 nonsynonymo us SNV Index Negative MO_1160 12 120607973 120607973 C T GCN1L1 nonsynonymo us SNV Index Negative MO_1160 1 160147401 160147401 C T ATP1A4 nonsynonymo us SNV Index Negative MO_1160 A LILRB1 nonsynonymo us SNV Index Negative MO_1160 7 136700522 136700522 G Index Negative MO_1160 14 77844432 Index Negative MO_1160 8 Index Negative MO_1160 Index Negative MO_1160 Index 19 55144496 55144496 G CHRM2:NM_001006 629:exon2:c.G910A: p.D304N,CHRM2:N M_001006627:exon3 :c.G910A:p.D304N,C HRM2:NM_0010066 28:exon3:c.G910A:p. D304N,CHRM2:NM_ 001006632:exon3:c. G910A:p.D304N,CH RM2:NM_000739:ex on4:c.G910A:p.D304 N,CHRM2:NM_0010 06630:exon4:c.G910 A:p.D304N,CHRM2: NM_001006631:exo n4:c.G910A:p.D304 N,CHRM2:NM_0010 06626:exon5:c.G910 A:p.D304N SAMD15:NM_00101 0860:exon1:c.C671T :p.S224L LYN:NM_001111097 :exon7:c.G530A:p.R 177Q,LYN:NM_0023 50:exon7:c.G593A:p. R198Q SCN5A:NM_000335: exon2:c.C254T:p.P8 5L,SCN5A:NM_0010 99404:exon2:c.C254 T:p.P85L,SCN5A:N M_001099405:exon2 :c.C254T:p.P85L,SC N5A:NM_001160160 :exon2:c.C254T:p.P8 5L,SCN5A:NM_0011 60161:exon2:c.C254 T:p.P85L,SCN5A:N M_198056:exon2:c. C254T:p.P85L OTOGL:NM_173591 :exon12:c.G1255A:p. D419N NTRK1:NM_001012 331:exon16:c.G2209 A:p.G737R,NTRK1: NM_001007792:exo n17:c.G2119A:p.G70 7R,NTRK1:NM_0025 29:exon17:c.G2227A :p.G743R TTN:NM_133379:ex on46:c.C12274T:p.P 4092S SCN2A:NM_001040 143:exon25:c.C4751 T:p.S1584F,SCN2A: NM_001040142:exo n26:c.C4751T:p.S15 84F,SCN2A:NM_021 007:exon26:c.C4751 T:p.S1584F PFKFB4:NM_004567 :exon13:c.G1343A:p. R448K HYDIN:NM_0012709 74:exon49:c.G8291A :p.G2764E AKAP9:NM_005751: exon8:c.G1708A:p.D 570N,AKAP9:NM_14 7185:exon8:c.G1708 A:p.D570N HMP19:NM_015980: exon4:c.G311A:p.G1 04E GCN1L1:NM_00683 6:exon15:c.G1519A: p.E507K ATP1A4:NM_001001 734:exon1:c.C91T:p. H31Y,ATP1A4:NM_1 44699:exon18:c.C26 83T:p.H895Y LILRB1:NM_001081 637:exon7:c.G988A: p.V330M,LILRB1:NM _001081638:exon7:c .G988A:p.V330M,LIL RB1:NM_001081639 :exon7:c.G988A:p.V 330M,LILRB1:NM_0 01278398:exon7:c.G 988A:p.V330M,LILR B1:NM_001278399:e xon7:c.G988A:p.V33 0M,LILRB1:NM_006 669:exon8:c.G988A: p.V330M NA NA NA 214 0 0% 173 93 34.96% NA NA NA 138 1 0.72% 178 94 34.56% NA NA NA 139 0 0% 136 94 40.87% NA NA NA 156 0 0% 51 94 64.83% NA NA NA 158 0 0% 137 94 40.69% NA NA NA 174 0 0% 165 94 36.29% NA NA NA 174 0 0% 172 94 35.34% NA NA NA 177 0 0% 182 94 34.06% NA NA NA 256 0 0% 74 94 55.95% NA NA NA 421 0 0% 374 94 20.09% NA NA NA 174 0 0% 190 95 33.33% NA NA NA 176 0 0% 197 95 32.53% NA NA NA 206 0 0% 162 95 36.96% NA NA NA 211 0 0% 219 95 30.25% NA NA NA 145 0 0% 133 96 41.92% Index Negative MO_1160 Index Negative MO_1160 1 29138978 Index Negative MO_1160 16 Index Negative MO_1160 15 Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index Index Negative MO_1160 Negative MO_1160 10 134999663 134999663 G A KNDC1 29138978 C T OPRD1 89598448 89598448 G A SPG7 74588198 74588198 A G CCDC33 KNDC1:NM_152643: nonsynonymo exon6:c.G811A:p.E2 us SNV 71K OPRD1:NM_000911: nonsynonymo exon1:c.C83T:p.P28 us SNV L SPG7:NM_003119:e xon8:c.G1124A:p.G3 nonsynonymo 75D,SPG7:NM_1993 us SNV 67:exon8:c.G1124A: p.G375D CCDC33:NM_02505 nonsynonymo 5:exon11:c.A1199G: us SNV p.K400R NA 0.0001997 rs200878 319 179 0 0% 64 96 60% NA NA NA 189 0 0% 164 96 36.92% NA NA NA 194 0 0% 70 96 57.83% NA NA NA 219 0 0% 180 96 34.78% T THUMPD3:NM_0011 14092:exon5:c.C899 THUMPD nonsynonymo T:p.P300L,THUMPD NA 3 us SNV 3:NM_015453:exon5 :c.C899T:p.P300L NA NA 170 0 0% 63 97 60.62% 79253866 C T REG3G REG3G:NM_001008 387:exon3:c.C104T: p.S35F,REG3G:NM_ nonsynonymo 001270040:exon3:c. NA us SNV C104T:p.S35F,REG 3G:NM_198448:exon 3:c.C104T:p.S35F NA NA 211 0 0% 195 97 33.22% 11 111368079 111368079 C T BTG4 BTG4:NM_017589:e nonsynonymo xon4:c.G367A:p.E12 NA us SNV 3K NA NA 217 0 0% 196 97 33.11% APCS ID=COSM2 nonsynonymo APCS:NM_001639:e 26908;OC NA us SNV xon2:c.C91T:p.P31S CURENCE =1(skin) NA 133 0 0% 143 98 40.66% WDR87 WDR87:NM_001291 088:exon6:c.G6892A nonsynonymo :p.E2298K,WDR87:N NA us SNV M_031951:exon6:c. G6775A:p.E2259K NA NA 151 0 0% 130 98 42.98% NA NA NA 153 0 0% 293 98 25.06% NA NA NA 176 0 0% 192 98 33.79% NA NA NA 222 0 0% 154 98 38.89% NA NA NA 81 0 0% 69 99 58.93% NA NA NA 157 0 0% 129 99 43.42% NA NA NA 185 0 0% 188 99 34.49% NA 206 0 0% 123 99 44.59% NA 206 0 0% 163 99 37.79% NA 131 0 0% 69 100 59.17% NA 136 0 0% 169 100 37.17% NA 154 0 0% 155 100 39.22% NA 164 0 0% 184 100 35.21% NA 174 0 0% 159 100 38.61% NA 174 0 0% 198 100 33.56% 3 2 9416291 79253866 9416291 C 1 159557917 159557917 C 19 38377419 38377419 C T T A GOLGB1 nonsynonymo us SNV 39998480 G T DLL3 nonsynonymo us SNV 78775903 G A TENM4 nonsynonymo us SNV 3 101451358 101451358 A C CEP97 nonsynonymo us SNV 54418646 C T CACNG7 nonsynonymo us SNV 78150875 G A MAGI2 nonsynonymo us SNV Index Negative MO_1160 3 121415945 121415945 G Index Negative MO_1160 19 39998480 Index Negative MO_1160 11 78775903 Index Negative MO_1160 Index Negative MO_1160 19 54418646 Index Negative MO_1160 7 78150875 Index Negative MO_1160 1 176681029 176681029 C T Index Negative MO_1160 6 167570404 167570404 C T Index Negative MO_1160 4 154215536 154215536 G A Index Negative MO_1160 5 132406156 132406156 C T Index Negative MO_1160 5 140481048 140481048 G A Index Negative MO_1160 8 11831543 11831543 C T Index Negative MO_1160 11 58722810 58722810 G A Index Negative MO_1160 17 73055647 73055647 G A GOLGB1:NM_00125 6488:exon12:c.C318 5T:p.S1062F,GOLG B1:NM_001256486:e xon13:c.C3425T:p.S 1142F,GOLGB1:NM _001256487:exon13: c.C3308T:p.S1103F, GOLGB1:NM_00448 7:exon13:c.C3410T: p.S1137F DLL3:NM_016941:ex on8:c.G1684T:p.D56 2Y,DLL3:NM_20348 6:exon8:c.G1684T:p. D562Y TENM4:NM_001098 816:exon6:c.C373T: p.P125S CEP97:NM_024548: exon6:c.A588C:p.E1 96D CACNG7:NM_03189 6:exon3:c.C311T:p.P 104L MAGI2:NM_012301: exon4:c.C626T:p.P2 09L ID=COSM1 PAPPA2:NM_02031 nonsynonymo 722442;OC PAPPA2 8:exon12:c.C3710T: NA us SNV CURENCE p.P1237L =2(NS) GPR31:NM_005299: nonsynonymo GPR31 exon1:c.G916A:p.A3 NA NA us SNV 06T TRIM2:NM_0011300 67:exon5:c.G604A:p. nonsynonymo TRIM2 D202N,TRIM2:NM_0 NA NA us SNV 15271:exon5:c.G685 A:p.D229N HSPA4:NM_002154: nonsynonymo HSPA4 exon4:c.C397T:p.L1 NA NA us SNV 33F PCDHB3:NM_01893 nonsynonymo PCDHB3 7:exon1:c.G815A:p. NA NA us SNV G272E DEFB136:NM_00103 nonsynonymo DEFB136 3018:exon2:c.G140A NA NA us SNV :p.G47E GLYATL1:NM_0012 20496:exon6:c.G475 A:p.D159N,GLYATL nonsynonymo 1:NM_080661:exon6 GLYATL1 NA NA us SNV :c.G568A:p.D190N,G LYATL1:NM_001220 494:exon7:c.G475A: p.D159N KCTD2:NM_015353: nonsynonymo KCTD2 exon4:c.G583A:p.E1 NA NA us SNV 95K nonsynonymo us SNV Index Negative MO_1160 19 51650070 51650070 G A SIGLEC7 Index Negative MO_1160 5 10649669 10649669 G A ANKRD33 nonsynonymo B us SNV Index Negative MO_1160 8 87241932 87241932 C T SLC7A13 nonsynonymo us SNV Index Negative MO_1160 2 171850391 171850391 G A TLK1 nonsynonymo us SNV Index Negative MO_1160 1 115223066 115223066 G A AMPD1 nonsynonymo us SNV Index Negative MO_1160 19 17322530 17322530 C T MYO9B Index Negative MO_1160 21 43913150 43913150 C T RSPH1 Index Negative MO_1160 12 124345599 124345599 G A Index Negative MO_1160 3 11402163 11402163 G A Index Negative MO_1160 6 69665973 69665973 A G Index Negative MO_1160 6 132967136 132967136 G A Index Negative MO_1160 Index 11 20636294 20636294 C T Negative MO_1160 5 173534438 173534438 C T Index Negative MO_1160 1 34258048 C T Index Negative MO_1160 2 168107039 168107039 C T Index Negative MO_1160 4 71200860 71200860 C T Index Negative MO_1160 11 92532247 92532247 G A Index Negative MO_1160 11 377116 377116 G A Index Negative MO_1160 6 36979626 36979626 G A Index Negative MO_1160 2 84926796 84926796 C T Index Negative MO_1160 8 67576963 67576963 C T Index Negative MO_1160 6 90024788 90024788 C T Index Negative MO_1160 14 20871547 20871547 C T Index Negative MO_1160 19 6682171 6682171 G T Index Negative MO_1160 17 26114806 26114806 G A Index Negative MO_1160 19 828233 828233 C A 34258048 SIGLEC7:NM_01654 3:exon4:c.G808A:p. A270T,SIGLEC7:NM _014385:exon5:c.G1 087A:p.A363T ANKRD33B:NM_001 164440:exon4:c.G92 9A:p.R310Q SLC7A13:NM_13881 7:exon1:c.G575A:p. R192Q TLK1:NM_00113655 5:exon19:c.C1912T: p.L638F,TLK1:NM_0 01136554:exon21:c. C2056T:p.L686F,TL K1:NM_012290:exon 21:c.C2200T:p.L734 F AMPD1:NM_001172 626:exon5:c.C668T: p.P223L,AMPD1:NM _000036:exon6:c.C6 80T:p.P227L NA NA NA 210 0 0% 177 100 36.10% NA NA NA 214 0 0% 196 100 33.78% NA NA rs377741 883 233 0 0% 225 100 30.77% NA NA NA 254 0 0% 235 100 29.85% NA NA NA 173 0 0% 181 101 35.82% MYO9B:NM_001130 065:exon39:c.C6005 nonsynonymo T:p.S2002L,MYO9B: NA us SNV NM_004145:exon39: c.C6005T:p.S2002L NA NA 176 0 0% 66 101 60.48% NA NA NA 177 0 0% 172 101 NA NA NA 188 0 0% 184 101 35.44% ID=COSM1 291579;OC CURENCE rs358079 =1(haemat 0.0015974 39 opoietic_a nd_lymphoi d_tissue) 199 0 0% 69 101 59.41% NA NA NA 205 1 0.49% 180 101 35.94% NA NA NA 160 0 0% 179 102 36.30% NA NA NA 187 0 0% 73 102 58.29% NA NA NA 210 0 0% 186 102 35.42% NA NA NA 215 1 0.46% 184 102 35.66% rs200534 519 142 0 0% 181 103 36.27% RSPH1:NM_080860: nonsynonymo exon2:c.G94A:p.G32 us SNV R DNAH10:NM_20743 nonsynonymo DNAH10 7:exon38:c.G6436A: us SNV p.A2146T ATG7:NM_00114491 2:exon13:c.G1471A: p.A491T,ATG7:NM_ nonsynonymo 001136031:exon14:c ATG7 us SNV .G1588A:p.A530T,A TG7:NM_006395:ex on14:c.G1588A:p.A5 30T BAI3:NM_001704:ex nonsynonymo BAI3 on7:c.A1253G:p.N41 us SNV 8S nonsynonymo TAAR1:NM_138327: TAAR1 us SNV exon1:c.C7T:p.P3S SLC6A5:NM_004211 nonsynonymo SLC6A5 :exon6:c.C1055T:p.P us SNV 352L HMP19:NM_015980: nonsynonymo HMP19 exon5:c.C446T:p.A1 us SNV 49V CSMD2:NM_001281 956:exon11:c.G1526 nonsynonymo CSMD2 A:p.G509E,CSMD2: us SNV NM_052896:exon11: c.G1406A:p.G469E XIRP2:NM_0011991 44:exon7:c.C8471T: nonsynonymo XIRP2 p.P2824L,XIRP2:NM us SNV _152381:exon9:c.C9 137T:p.P3046L CABS1:NM_033122: nonsynonymo CABS1 exon1:c.C104T:p.P3 us SNV 5L FAT3:NM_00100878 nonsynonymo FAT3 1:exon9:c.G6068A:p. us SNV G2023E B4GALNT4:NM_178 B4GALNT nonsynonymo 537:exon14:c.G1993 4 us SNV A:p.E665K FGD2:NM_173558:e nonsynonymo FGD2 xon4:c.G523A:p.D17 us SNV 5N DNAH6:NM_001370: nonsynonymo DNAH6 exon48:c.C7756T:p. us SNV R2586W VCPIP1:NM_025054 nonsynonymo VCPIP1 :exon1:c.G2231A:p. us SNV R744K GABRR2:NM_00204 nonsynonymo GABRR2 3:exon1:c.G97A:p.E us SNV 33K TEP1:NM_007110:e nonsynonymo TEP1 xon7:c.G1255A:p.E4 us SNV 19K C3:NM_000064:exon nonsynonymo C3 34:c.C4242A:p.D141 us SNV 4E NOS2:NM_000625:e nonsynonymo NOS2 xon5:c.C365T:p.P12 us SNV 2L AZU1 NA 0.0001997 37% NA NA NA 143 0 0% 68 103 60.23% NA NA NA 169 0 0% 184 103 35.89% NA NA NA 158 0 0% 73 104 58.76% NA NA NA 164 0 0% 162 104 39.10% NA NA NA 208 0 0% 211 104 33.02% rs191552 368 210 0 0% 210 104 33.12% NA 153 0 0% 170 105 38.18% 0.0003994 NA 161 0 0% 199 105 34.54% NA NA NA 0.0001997 NA NA NA NA 191 0 0% 79 105 57.07% NA NA NA 192 0 0% 197 105 34.77% nonsynonymo AZU1:NM_001700:e NA us SNV xon2:c.C62A:p.S21Y NA NA 211 0 0% 83 105 55.85% NRAP:NM_0012614 63:exon9:c.G826A:p. A276T,NRAP:NM_00 6175:exon9:c.G826A :p.A276T,NRAP:NM _198060:exon9:c.G8 26A:p.A276T SLC5A4:NM_014227 :exon13:c.G1500A:p. M500I TTN:NM_003319:ex on60:c.C15623T:p.P 5208L,TTN:NM_133 432:exon61:c.C1599 8T:p.P5333L,TTN:N M_133437:exon61:c. C16199T:p.P5400L, TTN:NM_133378:ex on181:c.C35114T:p. P11705L,TTN:NM_0 01256850:exon182:c .C37895T:p.P12632 L,TTN:NM_0012675 50:exon232:c.C4281 8T:p.P14273L FREM3:NM_001168 235:exon1:c.C5152T :p.L1718F COL22A1:NM_1528 88:exon54:c.G3847A :p.D1283N UPB1:NM_016327:e xon9:c.G1001A:p.R3 34Q ZNF227:NM_001289 170:exon4:c.C1112T :p.P371L,ZNF227:N M_001289171:exon4 :c.C1112T:p.P371L, ZNF227:NM_001289 172:exon4:c.C1058T :p.P353L,ZNF227:N M_001289168:exon5 :c.C1196T:p.P399L, ZNF227:NM_001289 169:exon5:c.C1196T :p.P399L,ZNF227:N M_001289173:exon5 :c.C1265T:p.P422L, ZNF227:NM_001289 166:exon6:c.C1349T :p.P450L,ZNF227:N M_001289167:exon6 :c.C1196T:p.P399L, ZNF227:NM_182490 :exon6:c.C1349T:p.P 450L FAM179B:NM_0150 91:exon1:c.C43T:p.P 15S RHBDD1:NM_03227 6:exon3:c.C476T:p.P 159L,RHBDD1:NM_ 001167608:exon5:c. C476T:p.P159L Index Negative MO_1160 10 115409858 115409858 C T NRAP nonsynonymo us SNV Index Negative MO_1160 22 32620419 C T SLC5A4 nonsynonymo us SNV Index Negative MO_1160 2 179498268 179498268 G A TTN nonsynonymo us SNV Index Negative MO_1160 4 144616677 144616677 G A FREM3 nonsynonymo us SNV Index Negative MO_1160 8 139629180 139629180 C T COL22A1 nonsynonymo us SNV Index Negative MO_1160 22 24919671 24919671 G A UPB1 nonsynonymo us SNV Index Negative MO_1160 19 44739932 44739932 C T ZNF227 nonsynonymo us SNV Index Negative MO_1160 14 45431667 45431667 C T FAM179B nonsynonymo us SNV Index Negative MO_1160 2 227731944 227731944 C T RHBDD1 nonsynonymo us SNV RXFP1 RXFP1:NM_0012537 29:exon14:c.C1261T :p.R421C,RXFP1:N M_001253728:exon1 5:c.C1306T:p.R436C ,RXFP1:NM_001253 730:exon15:c.C1012 T:p.R338C,RXFP1:N nonsynonymo M_001253727:exon1 us SNV 6:c.C1486T:p.R496C ,RXFP1:NM_001253 733:exon16:c.C937T :p.R313C,RXFP1:N M_021634:exon16:c. C1405T:p.R469C,RX FP1:NM_001253732: exon17:c.C1009T:p. R337C 32620419 Index Negative MO_1160 4 159568002 159568002 C Index Negative MO_1160 17 12819245 G A Index Negative MO_1160 14 102881055 102881055 C A Index Negative MO_1160 1 12819245 3563316 3563316 A T C NA NA NA 214 0 0% 74 105 58.66% NA NA NA 226 0 0% 220 105 32.31% NA NA NA 147 0 0% 156 106 40.46% NA NA NA 166 0 0% 61 106 63.47% NA NA rs201466 957 177 0 0% 165 106 39.11% NA NA NA 231 1 0.43% 193 106 35.45% NA NA NA 267 0 0% 248 106 29.94% NA NA NA 134 0 0% 124 107 46.32% NA NA NA 136 0 0% 147 107 42.13% ID=COSM1 41880;OC CURENCE NA =1(endome trium),1(ski n) NA 177 2 1.12% 77 107 58.15% NA NA 200 0 0% 65 107 62.21% NA NA 207 1 0.48% 217 107 33.02% NA NA 213 0 190 107 36.03% ARHGAP44:NM_014 ARHGAP nonsynonymo 859:exon5:c.G304A: NA 44 us SNV p.E102K TECPR2:NM_00117 2631:exon5:c.C563A nonsynonymo TECPR2 :p.S188Y,TECPR2:N NA us SNV M_014844:exon5:c. C563A:p.S188Y WRAP73:NM_01781 nonsynonymo WRAP73 8:exon3:c.T253G:p. NA us SNV C85G 0% Index Negative MO_1160 2 152584267 152584267 G A NEB NEB:NM_001164507 :exon5:c.C232T:p.P7 8S,NEB:NM_001164 508:exon5:c.C232T: nonsynonymo p.P78S,NEB:NM_00 NA us SNV 1271208:exon5:c.C2 32T:p.P78S,NEB:NM _004543:exon5:c.C2 32T:p.P78S Index Negative MO_1160 1 40349133 40349133 G A TRIT1 nonsynonymo TRIT1:NM_017646:e NA us SNV xon1:c.C31T:p.P11S Index Negative MO_1160 14 60619751 60619751 C T DHRS7 Index Negative MO_1160 14 95058514 95058514 C T Index Negative MO_1160 3 50334164 50334164 G A Index Negative MO_1160 1 202272426 202272426 G 5 LGR6 LGR6:NM_00101740 4:exon8:c.G532A:p. D178N,LGR6:NM_00 nonsynonymo 1017403:exon10:c.G NA us SNV 949A:p.D317N,LGR6 :NM_021636:exon10 :c.G793A:p.D265N DAB2:NM_00124487 1:exon11:c.C1451T: p.T484I,DAB2:NM_0 01343:exon12:c.C15 14T:p.T505I HTR2C:NM_000868: exon4:c.G198A:p.M6 6I,HTR2C:NM_0012 56761:exon4:c.G198 A:p.M66I,HTR2C:NM _001256760:exon5:c .G198A:p.M66I IGFBP6:NM_002178 :exon2:c.G469A:p.D 157N FPGT:NM_003838:e xon4:c.C667T:p.P22 3S 39377375 G A DAB2 nonsynonymo us SNV 113965865 113965865 G A HTR2C nonsynonymo us SNV 53494630 G A IGFBP6 nonsynonymo us SNV 74670359 C T FPGT nonsynonymo us SNV MFF:NM_001277062 :exon6:c.C515T:p.S1 72F,MFF:NM_00127 7067:exon6:c.C365T nonsynonymo :p.S122F,MFF:NM_0 NA us SNV 01277061:exon8:c.C 668T:p.S223F,MFF: NM_020194:exon8:c .C668T:p.S223F Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 12 53494630 Index Negative MO_1160 1 74670359 X A DHRS7:NM_016029: nonsynonymo exon4:c.G539A:p.R1 NA us SNV 80K SERPINA5:NM_000 SERPINA nonsynonymo 624:exon6:c.C1159T NA 5 us SNV :p.P387S NAT6:NM_00120001 6:exon2:c.C731T:p.P 244L,NAT6:NM_001 nonsynonymo NAT6 200018:exon2:c.C73 NA us SNV 1T:p.P244L,NAT6:N M_012191:exon2:c. C797T:p.P266L 39377375 Index Negative MO_1160 2 228212016 228212016 C T MFF Index Negative MO_1160 1 160607148 160607148 G A SLAMF1 Index Negative MO_1160 6 152631852 152631852 G A Index Negative MO_1160 1 208218527 208218527 C T Index Negative MO_1160 1 19216555 19216555 G A Index Negative MO_1160 6 78173118 78173118 C G Index Negative MO_1160 6 96651957 96651957 A T Index Negative MO_1160 4 123850225 123850225 C T Index Negative MO_1160 2 96789879 96789879 G A Index Negative MO_1160 20 31099209 31099209 G A Index Negative MO_1160 6 76024248 76024248 C T NA NA NA 221 0 0% 203 107 34.52% NA NA 228 0 0% 194 107 35.55% NA NA 234 0 0% 165 107 39.34% NA NA 253 0 0% 249 107 30.06% NA NA 132 0 0% 55 108 66.26% NA NA 211 0 0% 181 108 37.37% rs145194 026 221 0 0% 224 108 32.53% 0.0019968 NA NA NA 95 0 0% 56 109 66.06% NA NA NA 159 0 0% 197 109 35.62% rs148933 608 164 0 0% 177 109 38.11% NA NA 225 0 0% 212 109 33.96% NA NA 269 0 0% 233 109 31.87% 0.0001997 NA 186 0 0% 167 110 39.71% NA SLAMF1:NM_00303 nonsynonymo 7:exon2:c.C248T:p.P NA us SNV 83L ID=COSM1 150233,CO SYNE1:NM_033071: SM740502, exon87:c.C16654T:p nonsynonymo COSM740 SYNE1 .R5552C,SYNE1:NM us SNV 501;OCCU _182961:exon88:c.C RENCE=1( 16867T:p.R5623C skin),1(lun g) PLXNA2:NM_02517 nonsynonymo PLXNA2 9:exon19:c.G3524A: NA us SNV p.G1175E ALDH4A1:NM_0037 48:exon2:c.C107T:p. nonsynonymo ALDH4A1 P36L,ALDH4A1:NM_ NA us SNV 170726:exon2:c.C10 7T:p.P36L nonsynonymo HTR1B:NM_000863: HTR1B NA us SNV exon1:c.G3C:p.M1I FUT9:NM_006581:e nonsynonymo FUT9 xon3:c.A926T:p.N30 NA us SNV 9I SPATA5:NM_14520 nonsynonymo SPATA5 7:exon3:c.C319T:p.P NA us SNV 107S ASTL:NM_00100203 nonsynonymo ASTL 6:exon9:c.C1006T:p. NA us SNV P336S NOL4L:NM_0012567 nonsynonymo NOL4L 98:exon4:c.C640T:p. NA us SNV P214S FILIP1:NM_015687:e xon5:c.G1300A:p.E4 nonsynonymo FILIP1 34K,FILIP1:NM_001 NA us SNV 289987:exon6:c.G13 09A:p.E437K 0.0009984 NA NA 242 0 0% 218 110 33.54% NA NA 255 0 0% 240 110 31.43% NA NA 259 0 0% 213 110 34.06% NA NA 161 0 0% 183 111 37.76% NA NA 196 0 0% 66 111 62.71% NA NA 201 0 0% 197 111 36.04% NA NA 242 0 0% 206 111 35.02% NA NA 171 0 0% 214 112 34.36% ID=COSM1 692080,CO SM169207 NA 9;OCCUR ENCE=1(s kin) NA 176 0 0% 193 112 36.72% NA NA NA 202 0 0% 214 112 34.36% NA NA NA 184 0 0% 198 113 36.33% NA NA NA 190 0 0% 199 113 36.22% NA NA NA 194 1 0.51% 196 113 36.57% ID=COSM1 88565;OC CURENCE NA =1(large_in testine),1(l ung) rs201884 723 256 0 0% 186 113 37.79% NA NA NA 105 0 0% 37 114 75.50% NA NA NA 190 0 0% 167 114 40.57% A HLCS HLCS:NM_000411:e xon7:c.C1244T:p.S4 15F,HLCS:NM_0012 nonsynonymo 42784:exon7:c.C124 NA us SNV 4T:p.S415F,HLCS:N M_001242785:exon7 :c.C1244T:p.S415F NA NA 191 0 0% 232 114 32.95% A C16orf90:NM_00108 nonsynonymo C16orf90 0524:exon2:c.C218T NA us SNV :p.P73L NA NA 194 0 0% 173 114 39.72% ID=COSM1 407225,CO SM140722 6;OCCUR NA ENCE=1(la rge_intesti ne) NA 199 0 0% 204 114 35.85% NA 115 0 0% 31 115 78.77% Index Negative MO_1160 2 228881207 228881207 C T SPHKAP Index Negative MO_1160 3 149485274 149485274 G A ANKUB1 Index Negative MO_1160 2 179598389 179598389 C T Index Negative MO_1160 11 58478127 58478127 C T Index Negative MO_1160 6 72970437 72970437 G A Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index Index Index Index Negative MO_1160 Negative MO_1160 Negative MO_1160 Negative MO_1160 21 44182290 44182290 G A 26236049 26236049 G A 6 112443233 112443233 C T X 21 16 2 38269367 3544706 26539906 38269367 G 3544706 G 26539906 C 9 123688298 123688298 G T A SPHKAP:NM_00114 2644:exon7:c.G4363 nonsynonymo A:p.E1455K,SPHKA us SNV P:NM_030623:exon7 :c.G4363A:p.E1455K ANKUB1:NM_00114 nonsynonymo 4960:exon5:c.C1175 us SNV T:p.P392L TTN:NM_133378:ex on50:c.G11995A:p.E 3999K,TTN:NM_001 nonsynonymo 256850:exon51:c.G1 TTN us SNV 4776A:p.E4926K,TT N:NM_001267550:ex on53:c.G15727A:p.E 5243K GLYAT:NM_005838: exon5:c.G424A:p.E1 nonsynonymo GLYAT 42K,GLYAT:NM_201 us SNV 648:exon5:c.G424A: p.E142K RIMS1:NM_0011684 07:exon14:c.G1502A :p.R501Q,RIMS1:NM _001168408:exon14: c.G1505A:p.R502Q, RIMS1:NM_0011684 nonsynonymo RIMS1 09:exon14:c.G1262A us SNV :p.R421Q,RIMS1:NM _001168410:exon14: c.G1460A:p.R487Q, RIMS1:NM_014989: exon19:c.G3083A:p. R1028Q PDE9A:NM_001001 580:exon8:c.G532A: p.E178K,PDE9A:NM _001001575:exon9:c .G703A:p.E235K,PD E9A:NM_001001576 :exon9:c.G532A:p.E 178K,PDE9A:NM_00 1001569:exon10:c.G 799A:p.E267K,PDE9 A:NM_001001572:ex on10:c.G562A:p.E18 8K,PDE9A:NM_0010 01577:exon10:c.G78 nonsynonymo PDE9A 1A:p.E261K,PDE9A: us SNV NM_001001568:exo n11:c.G802A:p.E268 K,PDE9A:NM_00100 1573:exon11:c.G562 A:p.E188K,PDE9A:N M_001001578:exon1 1:c.G877A:p.E293K, PDE9A:NM_001001 579:exon11:c.G562A :p.E188K,PDE9A:N M_001001571:exon1 2:c.G880A:p.E294K, PDE9A:NM_001001 574:exon12:c.G925A MAGEB5:NM_00127 nonsynonymo MAGEB5 1752:exon2:c.G631A us SNV :p.E211K LAMA4:NM_001105 206:exon32:c.G4459 A:p.G1487R,LAMA4: nonsynonymo NM_001105207:exo LAMA4 us SNV n32:c.G4438A:p.G14 80R,LAMA4:NM_002 290:exon32:c.G4438 A:p.G1480R GPR113 GPR113:NM_00114 5169:exon3:c.G169A :p.V57I,GPR113:NM nonsynonymo _153835:exon3:c.G1 us SNV 99A:p.V67I,GPR113: NM_001145168:exo n4:c.G376A:p.V126I TRAF1 TRAF1:NM_005658: exon2:c.C56T:p.P19 nonsynonymo L,TRAF1:NM_00119 NA us SNV 0945:exon3:c.C56T: p.P19L NA Index Negative MO_1160 21 41559082 41559082 C T DSCAM DSCAM:NM_001271 534:exon14:c.G2755 nonsynonymo A:p.D919N,DSCAM: NA us SNV NM_001389:exon14: c.G2755A:p.D919N NA NA 178 0 0% 186 115 38.21% NA NA 184 0 0% 187 115 38.08% NA rs376848 682 191 0 0% 211 115 35.28% NA NA 213 0 0% 208 115 35.60% ID=COSM2 62388,CO SM262387; NA OCCUREN CE=2(large _intestine) rs150542 987 222 0 0% 90 115 56.10% NA NA NA 224 0 0% 207 115 35.71% NA NA NA 246 0 0% 199 115 36.62% NA NA NA 82 0 0% 50 116 69.88% NA NA NA 95 1 1.04% 104 116 52.73% NA NA NA 119 0 0% 43 116 72.96% ID=COSM1 190276;OC NA CURENCE =1(lung) rs227559 6 176 0 0% 161 116 41.88% NA NA 211 1 0.47% 223 116 34.22% NA 245 0 0% 245 116 32.13% NA 163 0 0% 185 117 38.74% NA 170 0 0% 187 117 38.49% rs372260 705 190 0 0% 188 117 38.36% NA 204 0 0% 223 117 34.41% NA 205 0 0% 217 117 35.03% NA NA 273 0 0% 218 117 34.93% NA NA 92 1 1.08% 32 118 78.67% NA NA 226 0 0% 230 118 33.91% NA NA 243 2 0.82% 210 118 35.98% XIRP2:NM_0011991 44:exon7:c.G4468A: nonsynonymo p.D1490N,XIRP2:NM NA us SNV _152381:exon9:c.G5 134A:p.D1712N NOS1:NM_000620:e xon2:c.C298T:p.P10 nonsynonymo 0S,NOS1:NM_00120 NA us SNV 4218:exon2:c.C298T :p.P100S Index Negative MO_1160 2 168103036 168103036 G A XIRP2 Index Negative MO_1160 12 117768577 117768577 G A NOS1 Index Negative MO_1160 17 A HLF nonsynonymo HLF:NM_002126:exo NA us SNV n2:c.G157A:p.E53K NET1 NET1:NM_005863:e xon10:c.C1243T:p.R nonsynonymo 415C,NET1:NM_001 us SNV 047160:exon12:c.C1 405T:p.R469C Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 10 18 53345153 5498571 5498571 C T 56205321 C T 7 150269283 150269283 G A X 56205321 53345153 G 92927003 92927003 A G 3 113524310 113524310 T A X 67942324 20 45633672 67942324 C T 45633672 C T 2 189875474 189875474 A C ALPK2:NM_052947: nonsynonymo ALPK2 exon5:c.G2098A:p.E us SNV 700K GIMAP4:NM_018326 nonsynonymo GIMAP4 :exon3:c.G125A:p.G us SNV 42E NAP1L3:NM_004538 nonsynonymo NAP1L3 :exon1:c.T1301C:p.V us SNV 434A ATP6V1A:NM_0016 nonsynonymo ATP6V1A 90:exon14:c.T1699A us SNV :p.W567R STARD8:NM_00114 2504:exon11:c.C239 5T:p.P799S,STARD nonsynonymo 8:NM_014725:exon1 STARD8 us SNV 1:c.C2395T:p.P799S ,STARD8:NM_00114 2503:exon12:c.C263 5T:p.P879S EYA2:NM_005244:e xon4:c.C247T:p.P83 nonsynonymo EYA2 S,EYA2:NM_172110 us SNV :exon4:c.C247T:p.P8 3S COL3A1:NM_00009 nonsynonymo COL3A1 0:exon50:c.A4112C: us SNV p.H1371P ID=COSM1 KCNV1:NM_014379: 239204;OC nonsynonymo exon3:c.G1030A:p.E CURENCE NA us SNV 344K =1(oesoph agus) FAT2:NM_001447:ex nonsynonymo on1:c.A1794T:p.K59 NA NA us SNV 8N C5orf22:NM_018356 nonsynonymo :exon9:c.C1223T:p.P NA NA us SNV 408L PROSC:NM_007198 nonsynonymo :exon2:c.C119T:p.P4 NA NA us SNV 0L LRRC70:NM_18150 nonsynonymo 6:exon2:c.C61T:p.L2 NA NA us SNV 1F PYCR1:NM_006907: exon5:c.C592T:p.P1 98S,PYCR1:NM_153 824:exon5:c.C592T: nonsynonymo p.P198S,PYCR1:NM NA NA us SNV _001282280:exon6:c .C592T:p.P198S,PY CR1:NM_001282281 :exon6:c.C673T:p.P2 25S Index Negative MO_1160 8 110980790 110980790 C T KCNV1 Index Negative MO_1160 5 150946699 150946699 T A FAT2 Index Negative MO_1160 5 31552903 31552903 C T C5orf22 Index Negative MO_1160 8 37623063 37623063 C T PROSC Index Negative MO_1160 5 61875326 61875326 C T LRRC70 Index Negative MO_1160 17 79892570 79892570 G A PYCR1 T CACNA1E:NM_0012 05294:exon46:c.C63 26T:p.S2109F,CACN nonsynonymo A1E:NM_000721:exo CACNA1E NA us SNV n47:c.C6383T:p.S21 28F,CACNA1E:NM_ 001205293:exon48:c .C6512T:p.S2171F Index Negative MO_1160 1 181767540 181767540 C Index Negative MO_1160 Index Negative MO_1160 12 Index Negative MO_1160 X 19983811 19983811 G A CXorf23 51457909 51457909 C T CSRNP2 12 133802964 133802964 G A ANHX NA CXorf23:NM_198279 nonsynonymo :exon3:c.C625T:p.R2 NA us SNV 09C CSRNP2:NM_03080 nonsynonymo 9:exon5:c.G1252A:p. NA us SNV V418I ANHX:NM_0011910 nonsynonymo 54:exon6:c.C779T:p. NA us SNV P260L Index Negative MO_1160 20 25655880 25655880 C T Index Negative MO_1160 20 3669256 3669256 G A Index Negative MO_1160 10 96748691 96748691 C T Index Negative MO_1160 8 57079971 57079971 G A ZNF337:NM_001290 261:exon4:c.G2044A nonsynonymo ZNF337 :p.E682K,ZNF337:N NA us SNV M_015655:exon5:c. G2044A:p.E682K SIGLEC1:NM_02306 nonsynonymo SIGLEC1 8:exon21:c.C5081T: NA us SNV p.P1694L CYP2C9:NM_00077 nonsynonymo CYP2C9 1:exon9:c.C1379T:p. NA us SNV S460F PLAG1 A SIN3A nonsynonymo us SNV Negative MO_1160 7 137080352 137080352 C T DGKI nonsynonymo us SNV Negative MO_1160 9 T WNK2 nonsynonymo us SNV Negative MO_1160 Index Index 15 75668035 96024358 96024358 C NA 205 0 0% 191 119 38.39% NA NA 219 0 0% 195 119 37.90% NA NA 224 0 0% 94 119 55.87% NA NA 275 0 0% 283 119 29.60% ID=COSM1 374605;OC CURENCE NA =1(large_in testine) NA 278 2 0.71% 243 119 32.87% NA NA NA 327 0 0% 277 119 30.05% NA NA NA 153 0 0% 48 120 71.43% ID=COSM1 105343;OC CURENCE NA =1(endome trium) NA 193 0 0% 176 120 40.54% NA NA NA 208 0 0% 171 120 41.24% NA NA NA 220 0 0% 76 120 61.22% NA NA NA 316 0 0% 284 120 29.70% PLAG1:NM_0011146 35:exon3:c.C88T:p.H 30Y,PLAG1:NM_001 nonsynonymo 114634:exon4:c.C33 NA us SNV 4T:p.H112Y,PLAG1: NM_002655:exon5:c .C334T:p.H112Y 75668035 G Index NA SIN3A:NM_0011453 57:exon20:c.C3562T :p.R1188W,SIN3A:N M_001145358:exon2 0:c.C3562T:p.R1188 W,SIN3A:NM_01547 7:exon20:c.C3562T: p.R1188W DGKI:NM_004717:ex on33:c.G3073A:p.D1 025N WNK2:NM_0012823 94:exon12:c.C3329T :p.T1110I,WNK2:NM _006648:exon12:c.C 3329T:p.T1110I FAM129B:NM_0010 35534:exon2:c.G89A :p.S30N,FAM129B:N M_022833:exon2:c. G128A:p.S43N OR2H1:NM_030883: exon3:c.G805A:p.G2 69S RANBP3:NM_00732 0:exon13:c.C1097T: p.T366I,RANBP3:NM _003624:exon14:c.C 1286T:p.T429I,RAN BP3:NM_007322:exo n14:c.C1301T:p.T43 4I CEBPE:NM_001805: exon2:c.T830G:p.V2 77G CLDN17:NM_01213 1:exon1:c.G368A:p. G123E Index Negative MO_1160 9 130293985 130293985 C T FAM129B nonsynonymo us SNV Index Negative MO_1160 6 29430351 29430351 G A OR2H1 nonsynonymo us SNV Index Negative MO_1160 19 5921241 5921241 G A RANBP3 nonsynonymo us SNV Index Negative MO_1160 14 23586712 23586712 A C CEBPE nonsynonymo us SNV Index Negative MO_1160 21 31538568 31538568 C T CLDN17 nonsynonymo us SNV NA NA NA 378 1 0.26% 514 120 18.93% TACC1 TACC1:NM_001122 824:exon2:c.C197T: p.S66F,TACC1:NM_ nonsynonymo 001146216:exon4:c. NA us SNV C842T:p.S281F,TAC C1:NM_006283:exon 4:c.C1427T:p.S476F NA NA 210 0 0% 220 121 35.48% NA NA NA 212 0 0% 212 121 36.34% NA NA NA 223 0 0% 223 121 35.17% NA NA NA 247 0 0% 197 121 38.05% NA NA NA 260 0 0% 223 121 35.17% NA NA NA 282 0 0% 228 121 34.67% NA NA NA 177 0 0% 80 122 60.40% NA NA NA 186 0 0% 198 122 38.12% NA NA NA 233 0 0% 357 123 25.62% NA NA NA 239 0 0% 317 123 27.95% NA NA NA 215 0 0% 191 124 39.37% Index Negative MO_1160 8 38682861 38682861 C T Index Negative MO_1160 1 159921565 159921565 C T SLAMF9 nonsynonymo us SNV Index Negative MO_1160 2 73718043 C T ALMS1 nonsynonymo us SNV Index Negative MO_1160 9 130911911 130911911 T C LCN2 nonsynonymo us SNV Index Negative MO_1160 1 160769698 160769698 G A LY9 nonsynonymo us SNV Index Negative MO_1160 5 179541448 179541448 C T RASGEF1 nonsynonymo C us SNV Index Negative MO_1160 4 169227781 169227781 C G DDX60 nonsynonymo us SNV Index Negative MO_1160 18 72114007 72114007 G A FAM69C nonsynonymo us SNV Index Negative MO_1160 3 98002040 98002040 G A OR5H2 nonsynonymo us SNV Index Negative MO_1160 3 129284315 129284315 C T PLXND1 nonsynonymo us SNV Index Negative MO_1160 2 A TEX37 nonsynonymo us SNV 73718043 88828966 88828966 G SLAMF9:NM_00114 6172:exon3:c.G483A :p.M161I,SLAMF9:N M_033438:exon4:c. G756A:p.M252I ALMS1:NM_015120: exon10:c.C8954T:p. P2985L LCN2:NM_005564:e xon1:c.T107C:p.V36 A LY9:NM_001033667: exon2:c.G280A:p.E9 4K,LY9:NM_001261 456:exon2:c.G280A: p.E94K,LY9:NM_001 261457:exon2:c.G28 0A:p.E94K,LY9:NM_ 002348:exon2:c.G28 0A:p.E94K RASGEF1C:NM_175 062:exon11:c.G1177 A:p.E393K DDX60:NM_017631: exon5:c.G355C:p.V1 19L FAM69C:NM_00104 4369:exon2:c.C710T :p.P237L OR5H2:NM_001005 482:exon1:c.G309A: p.M103I PLXND1:NM_01510 3:exon25:c.G4389A: p.M1463I TEX37:NM_152670: exon4:c.G517A:p.G1 73R Index Negative MO_1160 8 68087662 68087662 G A CSPP1 Index Negative MO_1160 18 6982579 6982579 G A LAMA1 Index Negative MO_1160 15 40710332 40710332 G A Index Negative MO_1160 4 38995478 38995478 T C Index Negative MO_1160 6 32097272 32097272 G A Index Negative MO_1160 1 157665275 157665275 G A Index Negative MO_1160 1 156786473 156786473 G A Index Negative MO_1160 4 3494684 3494684 C T Index Negative MO_1160 16 70923525 70923525 C T Index Negative MO_1160 8 145624868 145624868 C T Index Negative MO_1160 6 36689452 C T Index Negative MO_1160 7 143772025 143772025 C T Index Negative MO_1160 8 37734687 37734687 C T Index Negative MO_1160 6 85446636 85446636 C T Index Negative MO_1160 11 64812904 64812904 C T Index Negative MO_1160 2 71295712 71295712 G A NAGK Index Negative MO_1160 34149563 34149563 G A FAM47A Index Negative MO_1160 1 163043370 163043370 A C RGS4 X 36689452 CSPP1:NM_001291 339:exon21:c.G2050 nonsynonymo A:p.G684S,CSPP1:N NA us SNV M_024790:exon24:c. G3085A:p.G1029S LAMA1:NM_005559: nonsynonymo exon41:c.C5807T:p. us SNV S1936F IVD:NM_001159508: exon11:c.G1061A:p. nonsynonymo IVD G354D,IVD:NM_002 us SNV 225:exon12:c.G1151 A:p.G384D TMEM156:NM_0249 nonsynonymo TMEM156 43:exon3:c.A499G:p. us SNV R167G FKBPL:NM_022110: nonsynonymo FKBPL exon2:c.C286T:p.L9 us SNV 6F FCRL3:NM_052939: nonsynonymo FCRL3 exon8:c.C1255T:p.H us SNV 419Y SH2D2A:NM_00116 1441:exon1:c.C28T: p.P10S,SH2D2A:NM _001161442:exon1:c nonsynonymo .C5T:p.S2F,SH2D2A SH2D2A us SNV :NM_001161444:exo n1:c.C28T:p.P10S,S H2D2A:NM_003975: exon1:c.C28T:p.P10 S DOK7:NM_0012568 96:exon4:c.C41T:p.P nonsynonymo DOK7 14L,DOK7:NM_1736 us SNV 60:exon7:c.C971T:p. P324L HYDIN:NM_0012709 nonsynonymo HYDIN 74:exon58:c.G9739A us SNV :p.D3247N CPSF1:NM_013291: nonsynonymo CPSF1 exon13:c.G1268A:p. us SNV R423Q RAB44:NM_0012573 nonsynonymo RAB44 57:exon9:c.C1541T: us SNV p.A514V OR2A25:NM_00100 nonsynonymo OR2A25 4488:exon1:c.C713T us SNV :p.S238F RAB11FIP1:NM_001 002814:exon2:c.G75 RAB11FIP nonsynonymo 4A:p.D252N,RAB11F 1 us SNV IP1:NM_025151:exo n2:c.G754A:p.D252 N TBX18:NM_0010805 nonsynonymo TBX18 08:exon8:c.G1591A: us SNV p.G531R NAALADL1:NM_005 NAALADL nonsynonymo 468:exon18:c.G2062 1 us SNV A:p.G688S Index Negative MO_1160 3 111603012 111603012 G A PHLDB2 Index Negative MO_1160 1 19952054 19952054 C T MINOS1 Index Negative MO_1160 17 62131669 62131669 C T ERN1 NA NA 215 0 0% 164 124 43.06% NA NA NA 250 0 0% 233 124 34.73% NA NA NA 174 0 0% 63 125 66.49% NA NA NA 196 0 0% 217 125 36.55% NA NA NA 201 0 0% 205 125 37.88% NA NA NA 216 0 0% 194 125 39.18% NA NA NA 227 0 0% 248 125 33.51% 0.0003994 NA 292 0 0% 232 125 35.01% NA NA NA NA 464 1 0.22% 502 125 19.94% NA NA NA 710 0 0% 713 125 14.92% NA NA NA 163 0 0% 178 126 41.45% NA NA NA 218 0 0% 192 126 39.62% NA NA NA 233 0 0% 197 126 39.01% NA NA NA 236 1 0.42% 209 126 37.61% NA NA NA 261 0 0% 271 126 31.74% nonsynonymo NAGK:NM_017567:e NA us SNV xon1:c.G37A:p.E13K NA NA 278 0 0% 249 126 33.60% NA NA NA 115 0 0% 40 127 76.05% NA NA NA 153 0 0% 187 127 40.45% ID=COSM3 380333,CO SM338033 2,COSM33 NA 80334;OC CURENCE =1(pancrea s) NA 233 1 0.43% 358 127 26.19% NA NA NA 233 0 0% 219 127 36.71% NA NA NA 235 0 0% 185 127 40.71% FAM47A:NM_20340 nonsynonymo 8:exon1:c.C833T:p.A us SNV 278V RGS4:NM_0011133 80:exon4:c.A282C:p. K94N,RGS4:NM_00 nonsynonymo 5613:exon4:c.A336C us SNV :p.K112N,RGS4:NM _001102445:exon5:c .A627C:p.K209N PHLDB2:NM_00113 4438:exon2:c.G88A: p.D30N,PHLDB2:NM _001134439:exon2:c nonsynonymo .G88A:p.D30N,PHLD us SNV B2:NM_145753:exon 2:c.G88A:p.D30N,P HLDB2:NM_0011344 37:exon3:c.G169A:p. D57N MINOS1:NM_00120 nonsynonymo 4083:exon4:c.C391T us SNV :p.P131S ERN1:NM_001433:e nonsynonymo xon15:c.G1894A:p.E us SNV 632K Index Negative MO_1160 2 40656501 40656501 G A SLC8A1 SLC8A1:NM_001112 800:exon1:c.C920T: p.A307V,SLC8A1:N M_001112801:exon1 :c.C920T:p.A307V,S nonsynonymo LC8A1:NM_0012526 NA us SNV 24:exon1:c.C920T:p. A307V,SLC8A1:NM_ 021097:exon1:c.C92 0T:p.A307V,SLC8A1 :NM_001112802:exo n2:c.C920T:p.A307V NA NA 253 0 0% 265 127 32.40% ZNF568:NM_001204 839:exon9:c.C1189T nonsynonymo :p.R397C,ZNF568:N NA us SNV M_001204838:exon1 0:c.C1381T:p.R461C NA NA 262 0 0% 264 127 32.48% NA NA NA 341 0 0% 240 127 34.60% NA NA NA 86 0 0% 57 128 69.19% NA NA NA 95 0 0% 41 128 75.74% NA NA NA 192 0 0% 186 128 40.76% NA NA NA 197 0 0% 244 128 34.41% NA NA NA 213 2 0.93% 243 128 34.50% NA NA NA 219 0 0% 222 128 36.57% NA NA NA 220 0 0% 85 128 60.09% ID=COSM1 751621,CO ITSN1:NM_003024:e nonsynonymo SM393394 xon39:c.C4934T:p.S NA us SNV 8;OCCUR 1645F ENCE=2(ur inary_tract) NA 222 0 0% 191 128 40.13% Index Negative MO_1160 19 37487974 37487974 C T ZNF568 Index Negative MO_1160 19 44791475 44791475 G A ZNF235 Index Negative MO_1160 X 69261692 69261692 C T Index Negative MO_1160 X 46917599 46917599 C T Index Negative MO_1160 2 37287810 37287810 G A Index Negative MO_1160 19 44792131 44792131 G A Index Negative MO_1160 2 101014462 101014462 C T Index Negative MO_1160 15 90776919 G T Index Negative MO_1160 10 102283610 102283610 A G Index Negative MO_1160 21 90776919 35258681 35258681 C T ZNF235:NM_004234 nonsynonymo :exon5:c.C2113T:p.H us SNV 705Y AWAT2:NM_001002 nonsynonymo AWAT2 254:exon7:c.G968A: us SNV p.G323D JADE3:NM_0010774 45:exon11:c.C1592T nonsynonymo JADE3 :p.S531L,JADE3:NM us SNV _014735:exon11:c.C 1592T:p.S531L HEATR5B:NM_0190 nonsynonymo HEATR5B 24:exon12:c.C1763T us SNV :p.S588F ZNF235:NM_004234 nonsynonymo ZNF235 :exon5:c.C1457T:p.P us SNV 486L CHST10:NM_00485 nonsynonymo CHST10 4:exon5:c.G335A:p. us SNV R112Q CIB1:NM_00127776 4:exon2:c.C68A:p.T2 nonsynonymo CIB1 3K,CIB1:NM_006384 us SNV :exon2:c.C68A:p.T23 K NDUFB8:NM_00128 4368:exon5:c.T452C nonsynonymo NDUFB8 :p.V151A,NDUFB8:N us SNV M_005004:exon5:c.T 545C:p.V182A ITSN1 T XIRP2 nonsynonymo us SNV 36845761 G A KIAA1755 nonsynonymo us SNV 24608365 24608365 C T EMC9 nonsynonymo us SNV 19 52448017 52448017 G A ZNF613 nonsynonymo us SNV 17 45915728 45915728 G A SCRN2 nonsynonymo us SNV Index Negative MO_1160 2 168104941 168104941 C Index Negative MO_1160 20 36845761 Index Negative MO_1160 14 Index Negative MO_1160 Index Negative MO_1160 NA NA NA 244 0 0% 242 128 34.59% NA NA NA 277 0 0% 217 128 37.10% NA NA NA 219 0 0% 253 129 33.77% NA NA NA 220 0 0% 213 129 37.72% NA NA NA 236 0 0% 246 129 34.40% ID=COSM1 ANK2:NM_001148:e nonsynonymo 694845;OC xon38:c.C7988T:p.S NA us SNV CURENCE 2663F =2(skin) NA 254 0 0% 123 129 51.19% NA NA 295 1 0.34% 129 129 NA NA 206 0 0% 234 130 35.71% NA NA 213 0 0% 233 130 35.81% OPTC ID=COSM1 OPTC:NM_014359:e nonsynonymo 134801;OC xon2:c.G229A:p.E77 NA us SNV CURENCE K =1(kidney) rs140125 203 229 0 0% 191 130 40.50% SLC3A1 SLC3A1:NM_000341 nonsynonymo :exon1:c.G124A:p.D NA us SNV 42N NA 269 0 0% 202 130 39.16% Index Negative MO_1160 4 114277762 114277762 C T ANK2 Index Negative MO_1160 10 134623941 134623941 C T CFAP46 Index Negative MO_1160 1 145747092 145747092 G A PDZK1 Index Negative MO_1160 5 T MAP1B Index Index Negative MO_1160 Negative MO_1160 71494928 71494928 C 1 203465362 203465362 G 2 44502798 44502798 G A A XIRP2:NM_0011991 44:exon7:c.C6373T: p.P2125S,XIRP2:NM _152381:exon9:c.C7 039T:p.P2347S KIAA1755:NM_0010 29864:exon13:c.C27 95T:p.S932F EMC9:NM_016049:e xon6:c.G481A:p.G16 1R ZNF613:NM_001031 721:exon6:c.G881A: p.G294E,ZNF613:N M_024840:exon6:c. G773A:p.G258E SCRN2:NM_001145 023:exon7:c.C1027T :p.R343W,SCRN2:N M_138355:exon7:c. C1027T:p.R343W CFAP46:NM_001200 nonsynonymo 049:exon57:c.G7636 NA us SNV A:p.D2546N PDZK1:NM_0012013 25:exon2:c.G49A:p. G17R,PDZK1:NM_0 nonsynonymo 01201326:exon2:c.G NA us SNV 49A:p.G17R,PDZK1: NM_002614:exon3:c .G49A:p.G17R MAP1B:NM_005909: nonsynonymo exon5:c.C5746T:p.P NA us SNV 1916S NA 50% Index Negative MO_1160 17 71354233 71354233 C T SDK2 Index Negative MO_1160 6 29012445 29012445 C T OR2W1 Index Negative MO_1160 7 82582602 82582602 G A PCLO Index Negative MO_1160 7 82582593 82582593 G A PCLO Index Index Negative MO_1160 Negative MO_1160 12 15 81741397 86807844 81741397 G 86807844 C A T Index Negative MO_1160 12 57113797 57113797 G A Index Negative MO_1160 19 6928199 6928199 G A Index Negative MO_1160 18 48510559 48510559 C T Index Negative MO_1160 20 3841997 3841997 C T Index Negative MO_1160 17 34077134 34077134 T C Index Negative MO_1160 11 33572641 33572641 G A Index Negative MO_1160 Index Negative MO_1160 2 179485979 179485979 C 17 27371997 27371997 G SDK2:NM_00114495 nonsynonymo 2:exon40:c.G5578A: NA us SNV p.E1860K OR2W1:NM_030903 nonsynonymo :exon1:c.G508A:p.G NA us SNV 170R ID=COSM2 29057,CO PCLO:NM_014510:e SM229056, xon5:c.C7667T:p.S2 nonsynonymo COSM453 556F,PCLO:NM_033 us SNV 463;OCCU 026:exon5:c.C7667T RENCE=1( :p.S2556F skin),1(bre ast) PCLO:NM_014510:e xon5:c.C7676T:p.S2 nonsynonymo 559F,PCLO:NM_033 NA us SNV 026:exon5:c.C7676T :p.S2559F NA NA 270 0 0% 255 130 33.77% NA NA 280 0 0% 266 130 32.83% NA NA 195 0 0% 205 131 38.99% NA NA 202 0 0% 209 131 38.53% PPFIA2 PPFIA2:NM_001220 479:exon8:c.C848T: p.S283L,PPFIA2:NM _001220478:exon14: c.C1850T:p.S617L,P PFIA2:NM_0012204 77:exon15:c.C1925T :p.S642L,PPFIA2:N M_001282536:exon1 5:c.C1688T:p.S563L ,PPFIA2:NM_001220 nonsynonymo 474:exon16:c.C2093 NA us SNV T:p.S698L,PPFIA2:N M_001220473:exon1 7:c.C2147T:p.S716L ,PPFIA2:NM_001220 475:exon17:c.C2147 T:p.S716L,PPFIA2:N M_001220476:exon1 7:c.C2147T:p.S716L ,PPFIA2:NM_003625 :exon18:c.C2147T:p. S716L NA NA 226 1 0.44% 208 131 38.64% AGBL1 ID=COSM5 AGBL1:NM_152336: nonsynonymo 56496;OC exon10:c.C1304T:p. NA us SNV CURENCE S435F =1(lung) NA 228 0 0% 208 131 38.64% NACA:NM_0011132 nonsynonymo NACA 03:exon3:c.C1517T: us SNV p.S506F EMR1:NM_0012562 54:exon14:c.G1843A :p.G615R,EMR1:NM _001256255:exon14: c.G1735A:p.G579R, EMR1:NM_0012562 nonsynonymo EMR1 52:exon16:c.G2110A us SNV :p.G704R,EMR1:NM _001256253:exon16: c.G2071A:p.G691R, EMR1:NM_001974:e xon17:c.G2266A:p.G 756R ELAC1:NM_018696: nonsynonymo ELAC1 exon3:c.C251T:p.S8 us SNV 4F MAVS:NM_020746:e nonsynonymo MAVS xon4:c.C311T:p.P10 us SNV 4L GAS2L2:NM_139285 nonsynonymo GAS2L2 :exon2:c.A589G:p.R us SNV 197G KIAA1549L:NM_012 KIAA1549 nonsynonymo 194:exon4:c.G2666A L us SNV :p.G889E NA NA NA 231 0 0% 254 131 34.03% NA NA NA 265 0 0% 90 131 59.28% NA NA NA 216 0 0% 203 132 39.40% NA NA NA 222 0 0% 176 132 42.86% NA NA NA 226 1 0.44% 198 132 NA NA NA 246 0 0% 118 132 52.80% NA NA 297 2 0.67% 262 132 33.50% NA NA 215 0 192 133 40.92% T TTN TTN:NM_003319:ex on74:c.G18271A:p.D 6091N,TTN:NM_133 432:exon75:c.G1864 6A:p.D6216N,TTN:N M_133437:exon75:c. G18847A:p.D6283N, nonsynonymo TTN:NM_133378:ex NA us SNV on195:c.G37762A:p. D12588N,TTN:NM_0 01256850:exon196:c .G40543A:p.D13515 N,TTN:NM_0012675 50:exon246:c.G4546 6A:p.D15156N A PIPOX PIPOX:NM_016518: nonsynonymo exon2:c.G235A:p.E7 NA us SNV 9K 0% 40% Index Negative MO_1160 7 50367239 50367239 G A IKZF1 IKZF1:NM_0012207 67:exon2:c.G46A:p. E16K,IKZF1:NM_001 220768:exon2:c.G46 A:p.E16K,IKZF1:NM _001220770:exon2:c .G46A:p.E16K,IKZF1 :NM_001220771:exo n2:c.G46A:p.E16K,I KZF1:NM_00129184 0:exon2:c.G46A:p.E 16K,IKZF1:NM_0012 91841:exon2:c.G46A :p.E16K,IKZF1:NM_0 nonsynonymo 01291842:exon2:c.G NA us SNV 46A:p.E16K,IKZF1:N M_001291843:exon2 :c.G46A:p.E16K,IKZ F1:NM_001291844:e xon2:c.G46A:p.E16K ,IKZF1:NM_0012207 65:exon3:c.G46A:p. E16K,IKZF1:NM_001 291837:exon3:c.G46 A:p.E16K,IKZF1:NM _001291838:exon3:c .G46A:p.E16K,IKZF1 :NM_001291839:exo n3:c.G46A:p.E16K,I NA NA 248 0 0% 80 133 62.44% NA 252 0 0% 89 133 59.91% NA NA 275 0 0% 232 133 36.44% NA NA NA 326 0 0% 216 133 38.11% NA NA NA 221 0 0% 210 134 38.95% NA NA NA 230 0 0% 227 134 37.12% NA NA NA 253 0 0% 276 134 32.68% ID=COSM1 646810,CO SM139044, COSM377 3297,COS M10939;O CCURENC E=3(ovary) ,6(large_int estine),1(ur inary_tract) ,1(liver),1(e NA ye),3(pancr eas),9(bre ast),10(ski n),5(oesop hagus),5(u pper_aerod igestive_tr act),3(centr al_nervous _system),3 (stomach), 5(lung) NA 291 0 0% 90 134 59.82% NA NA 128 0 0% 54 135 71.43% rs368468 229 201 0 0% 224 135 37.60% NA 244 0 0% 206 135 39.59% Index Negative MO_1160 7 4153693 G A SDK1 ID=COSM2 SDK1:NM_152744:e 68242;OC nonsynonymo xon25:c.G3610A:p.G CURENCE NA us SNV 1204R =1(large_in testine) Index Negative MO_1160 1 238053401 238053401 G A ZP4 nonsynonymo ZP4:NM_021186:exo NA us SNV n2:c.C251T:p.S84F 4153693 Index Negative MO_1160 17 27285102 27285102 C T SEZ6 nonsynonymo us SNV Index Negative MO_1160 15 75042116 75042116 G A CYP1A2 nonsynonymo us SNV Index Negative MO_1160 14 64519012 64519012 C T SYNE2 nonsynonymo us SNV Index Negative MO_1160 12 65269377 65269377 C T TBC1D30 nonsynonymo us SNV 7577106 G A TP53 nonsynonymo us SNV Negative MO_1160 3 195495896 195495896 G A MUC4 nonsynonymo us SNV Negative MO_1160 5 140739865 140739865 G A PCDHGB nonsynonymo 2 us SNV A ID=COSM9 COLEC12:NM_1303 88279;OC nonsynonymo COLEC12 86:exon5:c.C367T:p. CURENCE NA us SNV R123C =1(endome trium) Index Negative MO_1160 Index Index Index SEZ6:NM_00109863 5:exon11:c.G2165A: p.S722N,SEZ6:NM_ 001290202:exon11:c .G1790A:p.S597N,S EZ6:NM_178860:exo n11:c.G2165A:p.S72 2N CYP1A2:NM_00076 1:exon2:c.G37A:p.E 13K SYNE2:NM_015180: exon48:c.C8381T:p. P2794L,SYNE2:NM_ 182914:exon48:c.C8 381T:p.P2794L TBC1D30:NM_0152 79:exon12:c.C2095T :p.P699S TP53:NM_00112611 5:exon4:c.C436T:p.P 146S,TP53:NM_001 126116:exon4:c.C43 6T:p.P146S,TP53:N M_001126117:exon4 :c.C436T:p.P146S,T P53:NM_001276697: exon4:c.C355T:p.P1 19S,TP53:NM_0012 76698:exon4:c.C355 T:p.P119S,TP53:NM _001276699:exon4:c .C355T:p.P119S,TP 53:NM_001126118:e xon7:c.C715T:p.P23 9S,TP53:NM_00054 6:exon8:c.C832T:p.P 278S,TP53:NM_001 126112:exon8:c.C83 2T:p.P278S,TP53:N M_001126113:exon8 :c.C832T:p.P278S,T P53:NM_001126114: exon8:c.C832T:p.P2 78S,TP53:NM_0012 76695:exon8:c.C715 T:p.P239S,TP53:NM 001276696:exon8:c MUC4:NM_138297:e xon5:c.C665T:p.S22 2F,MUC4:NM_00453 2:exon6:c.C818T:p.S 273F,MUC4:NM_018 406:exon7:c.C13526 T:p.S4509F PCDHGB2:NM_0189 23:exon1:c.G163A:p. G55R,PCDHGB2:N M_032096:exon1:c. G163A:p.G55R Negative MO_1160 17 18 7577106 347255 347255 G NA NA 0.0001997 Index Negative MO_1160 19 56704287 56704287 C T Index Negative MO_1160 16 11650477 11650477 G A Index Negative MO_1160 5 180275874 180275874 C T Index Index Index Index Negative MO_1160 Negative MO_1160 Negative MO_1160 Negative MO_1160 19 36276165 36276165 G 5 140802767 140802767 C 4 11 88047304 55999874 88047304 C 55999874 G A ZSCAN5B:NM_0010 nonsynonymo 80456:exon1:c.G135 us SNV A:p.M45I LITAF:NM_0011364 72:exon2:c.C110T:p. P37L,LITAF:NM_001 nonsynonymo LITAF 136473:exon2:c.C11 us SNV 0T:p.P37L,LITAF:NM _004862:exon2:c.C1 10T:p.P37L ZFP62:NM_0011726 38:exon2:c.G2621A: nonsynonymo ZFP62 p.G874E,ZFP62:NM us SNV _152283:exon3:c.G2 522A:p.G841E ARHGAP33:NM_001 172630:exon17:c.G1 ARHGAP nonsynonymo 388A:p.R463Q,ARH 33 us SNV GAP33:NM_052948: exon18:c.G1796A:p. R599Q ZSCAN5B NA 257 0 0% 261 135 34.09% NA NA NA 226 0 0% 219 136 38.31% NA NA NA 235 1 0.42% 226 136 37.57% ID=COSM1 392969;OC CURENCE NA =1(large_in testine) NA 240 0 0% 185 136 42.37% 214 136 38.86% T NA NA 265 1 0.38% T AFF1 AFF1:NM_005935:ex on13:c.C2606T:p.P8 nonsynonymo 69L,AFF1:NM_0011 NA us SNV 66693:exon14:c.C26 27T:p.P876L NA NA 279 0 0% 93 136 59.39% OR5T2 ID=COSM6 OR5T2:NM_0010047 nonsynonymo 88633;OC 46:exon1:c.C788T:p. NA us SNV CURENCE A263V =1(lung) NA 283 0 0% 265 136 33.92% A nonsynonymo us SNV CYFIP1:NM_014608: exon6:c.G415A:p.E1 39K,CYFIP1:NM_00 1287810:exon7:c.G4 15A:p.E139K SPATA31E1:NM_17 8828:exon4:c.G3835 A:p.G1279R MUC3A:NM_005960: exon3:c.C3488T:p.P 1163L PCDHGA2:NM_0189 15:exon1:c.C943T:p. H315Y,PCDHGA2:N M_032009:exon1:c. C943T:p.H315Y Negative MO_1160 15 22929741 22929741 G A CYFIP1 Index Negative MO_1160 9 90503237 90503237 G A SPATA31 nonsynonymo E1 us SNV Index Negative MO_1160 7 100553013 100553013 C T MUC3A Index Negative MO_1160 5 140719481 140719481 C T PCDHGA nonsynonymo 2 us SNV 11134267 G A SMARCA4:NM_0011 28845:exon19:c.G29 33A:p.R978Q,SMAR CA4:NM_001128846 :exon19:c.G2933A:p. R978Q,SMARCA4:N M_001128847:exon1 9:c.G2933A:p.R978 Q,SMARCA4:NM_00 SMARCA nonsynonymo 1128848:exon19:c.G 4 us SNV 2933A:p.R978Q,SM ARCA4:NM_001128 849:exon20:c.G2933 A:p.R978Q,SMARCA 4:NM_003072:exon2 0:c.G2933A:p.R978 Q,SMARCA4:NM_00 1128844:exon21:c.G 2933A:p.R978Q 2 187627234 187627234 G A FAM171B 11134267 NA PCDHGA11:NM_018 914:exon1:c.C1973T PCDHGA nonsynonymo :p.T658I,PCDHGA11 NA 11 us SNV :NM_032091:exon1: c.C1973T:p.T658I Index 19 NA Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 17 5984105 5984105 C T Index Negative MO_1160 17 67148545 67148545 G A Index Negative MO_1160 5 176524385 176524385 C T Index Negative MO_1160 2 179358706 179358706 C T Index Negative MO_1160 19 58016751 58016751 C T Index Negative MO_1160 12 27849845 27849845 C T nonsynonymo us SNV FAM171B:NM_1774 nonsynonymo 54:exon8:c.G2165A: us SNV p.R722K WSCD1:NM_015253 nonsynonymo WSCD1 :exon2:c.C127T:p.P4 us SNV 3S ABCA10:NM_08028 nonsynonymo ABCA10 2:exon36:c.C4214T: us SNV p.A1405V FGFR4:NM_022963: exon15:c.C2126T:p. A709V,FGFR4:NM_0 01291980:exon17:c. nonsynonymo C2042T:p.A681V,FG FGFR4 us SNV FR4:NM_002011:exo n17:c.C2246T:p.A74 9V,FGFR4:NM_2136 47:exon17:c.C2246T :p.A749V PLEKHA3:NM_0190 nonsynonymo PLEKHA3 91:exon4:c.C440T:p. us SNV P147L ZNF773:NM_198542 nonsynonymo ZNF773 :exon3:c.C245T:p.T8 us SNV 2I REP15:NM_0010298 nonsynonymo REP15 74:exon1:c.C350T:p. us SNV S117L NA NA NA 292 0 0% 107 136 55.97% NA NA NA 302 0 0% 267 136 33.75% NA NA NA 675 0 0% 816 136 14.29% NA NA NA 172 0 0% 202 137 40.41% ID=COSM1 172566,CO SM117256 7;OCCUR NA ENCE=1(o esophagus ) NA 201 0 0% 84 137 61.99% NA NA rs145306 193 262 0 0% 265 137 34.08% NA NA NA 264 0 0% 98 137 58.30% NA NA NA 318 0 0% 276 137 33.17% NA NA NA 337 0 0% 229 137 37.43% NA NA NA 200 0 0% 221 138 38.44% NA NA NA 243 0 0% 246 138 35.94% NA NA NA 247 1 0.40% 82 138 62.73% Index Negative MO_1160 9 98211440 98211440 G A PTCH1 PTCH1:NM_000264: exon22:c.C3715T:p. R1239W,PTCH1:NM _001083602:exon22: c.C3517T:p.R1173W ,PTCH1:NM_001083 603:exon22:c.C3712 T:p.R1238W,PTCH1 nonsynonymo :NM_001083604:exo NA us SNV n22:c.C3262T:p.R10 88W,PTCH1:NM_00 1083605:exon22:c.C 3262T:p.R1088W,PT CH1:NM_001083606 :exon22:c.C3262T:p. R1088W,PTCH1:NM _001083607:exon22: c.C3262T:p.R1088W Index Negative MO_1160 1 82434967 82434967 C T LPHN2 LPHN2:NM_012302: nonsynonymo exon13:c.C2578T:p. NA us SNV R860C NA NA 256 0 0% 208 138 39.88% F8 ID=COSM1 315378,CO nonsynonymo F8:NM_000132:exon SM131537 NA us SNV 7:c.C886T:p.L296F 7;OCCUR ENCE=1(ur inary_tract) NA 122 0 0% 50 139 73.54% OXR1:NM_181354:e xon7:c.G907A:p.E30 3K,OXR1:NM_00119 8532:exon8:c.G931A nonsynonymo :p.E311K,OXR1:NM_ NA us SNV 001198533:exon9:c. G928A:p.E310K,OX R1:NM_018002:exon 9:c.G928A:p.E310K NA 229 0 0% 251 139 35.64% NA 231 0 0% 197 139 41.37% NA 286 0 0% 236 139 37.07% Index Negative MO_1160 X 154197729 154197729 G A Index Negative MO_1160 8 107718677 107718677 G A OXR1 Index Negative MO_1160 1 54060481 54060481 G A GLIS1 Index Negative MO_1160 14 47120879 47120879 G A RPL10L Index Index Negative MO_1160 Negative MO_1160 8 2 99148917 97493608 99148917 C 97493608 C T T NA NA 253 1 0.39% 249 138 35.66% NA nonsynonymo GLIS1:NM_147193:e NA NA us SNV xon3:c.C95T:p.A32V ID=COSM4 69978;OC RPL10L:NM_080746 nonsynonymo CURENCE :exon1:c.C61T:p.R21 NA us SNV =1(endome C trium),1(kid ney) POP1 POP1:NM_00114586 0:exon8:c.C1219T:p. P407S,POP1:NM_00 nonsynonymo 1145861:exon8:c.C1 NA us SNV 219T:p.P407S,POP1 :NM_015029:exon8: c.C1219T:p.P407S NA NA 196 0 0% 209 140 40.11% CNNM3 CNNM3:NM_199078 :exon3:c.C1516T:p.P nonsynonymo 506S,CNNM3:NM_0 NA us SNV 17623:exon4:c.C166 0T:p.P554S NA NA 231 0 0% 209 140 40.11% NA 286 0 0% 110 140 Index Negative MO_1160 4 96762304 96762304 G A PDHA2 ID=COSM1 PDHA2:NM_005390: nonsynonymo 633858;OC exon1:c.G1003A:p.E NA us SNV CURENCE 335K =1(liver) Index Negative MO_1160 11 67077628 67077628 C T SSH3 SSH3:NM_017857:e nonsynonymo xon13:c.C1501T:p.P NA us SNV 501S NA NA 232 0 0% 193 141 42.22% NIPAL4 NIPAL4:NM_001172 292:exon5:c.G1276A nonsynonymo :p.D426N,NIPAL4:N NA us SNV M_001099287:exon6 :c.G1333A:p.D445N NA NA 240 0 0% 267 141 34.56% NA 244 0 0% 261 141 35.07% NA 300 0 0% 301 141 31.90% NA 214 1 0.47% 252 142 36.04% NA 216 0 0% 95 142 59.92% rs369440 060 248 0 0% 241 142 37.08% NA 255 0 0% 243 142 36.88% Index Negative MO_1160 5 156899900 156899900 G A Index Negative MO_1160 19 56539808 56539808 C T NLRP5 Index Negative MO_1160 1 2704213 2704213 C T TTC34 Index Negative MO_1160 5 129520922 129520922 C T CHSY3 Index Negative MO_1160 15 41961946 41961946 C T MGA Index Negative MO_1160 19 56466062 56466062 G A NLRP8 Index Negative MO_1160 8 22103108 22103108 C T POLR3D ID=COSM1 396777;OC CURENCE NLRP5:NM_153447: nonsynonymo =2(central_ exon7:c.C2209T:p.R 0.0001997 us SNV nervous_sy 737W stem),1(lar ge_intestin e) TTC34:NM_0012426 nonsynonymo 72:exon2:c.G148A:p. NA NA us SNV E50K CHSY3:NM_175856: nonsynonymo exon3:c.C2087T:p.S NA NA us SNV 696F MGA:NM_00108054 1:exon2:c.C854T:p.S nonsynonymo 285F,MGA:NM_0011 NA NA us SNV 64273:exon2:c.C854 T:p.S285F NLRP8:NM_176811: nonsynonymo exon3:c.G638A:p.G2 NA NA us SNV 13E POLR3D:NM_00172 nonsynonymo 2:exon2:c.C146T:p.T NA NA us SNV 49I 56% Index Negative MO_1160 4 6083350 C T JAKMIP1:NM_00109 9433:exon6:c.G1087 nonsynonymo JAKMIP1 A:p.E363K,JAKMIP1 us SNV :NM_144720:exon6: c.G1087A:p.E363K Index Negative MO_1160 1 153412418 153412418 G A S100A7L2 Index Negative MO_1160 1 201177103 201177103 C T IGFN1 Index Negative MO_1160 4 52860861 52860861 G A LRRC66 Index Negative MO_1160 20 30789903 30789903 G A PLAGL2 Index Negative MO_1160 19 17949092 17949092 G A JAK3 Index Negative MO_1160 18 31325723 31325723 G A ASXL3 Index Negative MO_1160 6083350 3 129231236 129231236 C T IFT122 ID=COSM2 24665,CO SM224666; NA OCCUREN CE=1(skin) NA 266 0 0% 252 142 36.04% NA NA NA 268 0 0% 266 143 34.96% NA NA NA 286 0 0% 259 143 35.57% NA NA NA 298 0 0% 144 143 49.83% NA NA NA 322 1 0.31% 316 143 31.15% NA NA NA 276 0 0% 94 145 60.67% NA NA NA 305 0 0% 271 145 34.86% IFT122:NM_052990: exon21:c.C2638T:p. P880S,IFT122:NM_0 01280546:exon22:c. C2341T:p.P781S,IFT 122:NM_018262:exo n23:c.C2791T:p.P93 1S,IFT122:NM_0012 nonsynonymo 80541:exon24:c.C29 NA us SNV 47T:p.P983S,IFT122 :NM_052989:exon24 :c.C2968T:p.P990S,I FT122:NM_0012805 45:exon25:c.C2518T :p.P840S,IFT122:NM _052985:exon25:c.C 3121T:p.P1041S NA NA 202 1 0.49% 322 146 31.20% NA NA NA 255 0 0% 223 146 39.57% NA NA NA 276 0 0% 237 146 38.12% NA 0.0001997 NA 297 1 0.34% 216 146 40.33% NA 0.0001997 rs200093 028 368 0 0% 314 146 31.74% NA NA 194 0 0% 238 147 38.18% ID=COSM1 421359;OC CURENCE NA =1(large_in testine) NA 270 0 0% 253 147 36.75% NA NA 283 0 0% 254 147 36.66% S100A7L2:NM_0010 nonsynonymo 45479:exon1:c.C8T: us SNV p.P3L IGFN1:NM_0011645 nonsynonymo 86:exon12:c.C3082T us SNV :p.P1028S LRRC66:NM_00102 nonsynonymo 4611:exon4:c.C2327 us SNV T:p.P776L PLAGL2:NM_002657 nonsynonymo :exon2:c.C79T:p.P27 us SNV S JAK3:NM_000215:ex nonsynonymo on11:c.C1549T:p.P5 us SNV 17S ASXL3:NM_030632: nonsynonymo exon12:c.G5911A:p. us SNV G1971R Index Negative MO_1160 12 57627535 57627535 G A SHMT2 nonsynonymo us SNV Index Negative MO_1160 11 72012872 72012872 G A CLPB nonsynonymo us SNV Index Negative MO_1160 22 47086010 47086010 C T CERK nonsynonymo us SNV Index Negative MO_1160 7 158716322 158716322 G T WDR60 nonsynonymo us SNV Index Negative MO_1160 A NLRP13 nonsynonymo us SNV 19 56424050 56424050 G nonsynonymo us SNV Index Negative MO_1160 3 184038481 184038481 C T EIF4G1 Index Negative MO_1160 5 A ADAMTS nonsynonymo 6 us SNV 64520843 64520843 T SHMT2:NM_001166 356:exon10:c.G1097 A:p.G366D,SHMT2: NM_001166357:exo n10:c.G1064A:p.G35 5D,SHMT2:NM_001 166358:exon10:c.G1 064A:p.G355D,SHM T2:NM_001166359:e xon10:c.G1064A:p.G 355D,SHMT2:NM_0 05412:exon10:c.G11 27A:p.G376D CLPB:NM_00125839 3:exon10:c.C1217T: p.T406I,CLPB:NM_0 01258392:exon11:c. C1304T:p.T435I,CLP B:NM_030813:exon1 2:c.C1394T:p.T465I, CLPB:NM_00125839 4:exon13:c.C1259T: p.T420I CERK:NM_022766:e xon12:c.G1420A:p.E 474K WDR60:NM_018051 :exon17:c.G2155T:p. G719C NLRP13:NM_176810 :exon5:c.C1133T:p.P 378L EIF4G1:NM_004953: exon1:c.C13T:p.R5C ,EIF4G1:NM_198242 :exon4:c.C109T:p.R3 7C,EIF4G1:NM_198 244:exon5:c.C340T: p.R114C,EIF4G1:NM _182917:exon7:c.C6 01T:p.R201C,EIF4G 1:NM_001194947:ex on8:c.C622T:p.R208 C,EIF4G1:NM_0012 91157:exon8:c.C481 T:p.R161C,EIF4G1: NM_198241:exon8:c .C601T:p.R201C,EIF 4G1:NM_001194946 :exon9:c.C622T:p.R2 08C ADAMTS6:NM_1979 41:exon17:c.A2099T :p.D700V NA NA Index Negative MO_1160 3 77147239 77147239 G A ROBO2 Index Negative MO_1160 19 994293 994293 C T WDR18 Index Negative MO_1160 5 78340214 78340214 C T DMGDH Index Negative MO_1160 12 130184388 130184388 G A TMEM132 D Index Negative MO_1160 20 61287999 61287999 G A SLCO4A1 Index Negative MO_1160 19 39949698 39949698 C T SUPT5H Index Negative MO_1160 13 41507806 41507806 G A ELF1 Index Negative MO_1160 12 129190178 129190178 C T TMEM132 C Index Negative MO_1160 1 111060866 111060866 C T KCNA10 Index Negative MO_1160 7 7472118 7472118 C T COL28A1 Index Negative MO_1160 9 35811687 35811687 G A SPAG8 Index Negative MO_1160 19 994291 994291 A T WDR18 Index Negative MO_1160 3 195595230 195595230 G A TNK2 Index Negative MO_1160 A ZNF175 Index Negative MO_1160 19 6 52090830 31675746 52090830 G 31675746 G A LY6G6F ROBO2:NM_001290 039:exon2:c.G136A: p.E46K,ROBO2:NM_ nonsynonymo 001290040:exon2:c. us SNV G136A:p.E46K,ROB O2:NM_002942:exon 2:c.G136A:p.E46K WDR18:NM_024100 nonsynonymo :exon10:c.C1249T:p. us SNV R417W DMGDH:NM_013391 nonsynonymo :exon6:c.G907A:p.E us SNV 303K TMEM132D:NM_133 nonsynonymo 448:exon2:c.C935T: us SNV p.S312F SLCO4A1:NM_0163 nonsynonymo 54:exon2:c.G193A:p. us SNV E65K SUPT5H:NM_00113 0825:exon6:c.C431T :p.S144L,SUPT5H:N M_003169:exon6:c. nonsynonymo C443T:p.S148L,SUP us SNV T5H:NM_001111020 :exon7:c.C443T:p.S1 48L,SUPT5H:NM_00 1130824:exon7:c.C4 43T:p.S148L ELF1:NM_00114535 3:exon8:c.C1543T:p. nonsynonymo P515S,ELF1:NM_17 us SNV 2373:exon9:c.C1615 T:p.P539S TMEM132C:NM_001 nonsynonymo 136103:exon9:c.C26 us SNV 65T:p.P889S KCNA10:NM_00554 nonsynonymo 9:exon1:c.G544A:p. us SNV D182N COL28A1:NM_0010 nonsynonymo 37763:exon25:c.G19 us SNV 84A:p.D662N SPAG8:NM_001039 592:exon2:c.C356T: nonsynonymo p.S119F,SPAG8:NM us SNV _172312:exon2:c.C3 56T:p.S119F WDR18:NM_024100 nonsynonymo :exon10:c.A1247T:p. us SNV N416I TNK2:NM_005781:e xon12:c.C1894T:p.P nonsynonymo 632S,TNK2:NM_001 us SNV 010938:exon13:c.C2 128T:p.P710S ZNF175:NM_007147 nonsynonymo :exon5:c.G1246A:p. us SNV E416K 1 0.35% 100 147 59.51% NA NA NA 347 0 0% 118 147 55.47% NA NA NA 287 0 0% 242 148 37.95% NA NA NA 290 0 0% 277 148 34.82% rs368643 286 291 1 0.34% 254 148 36.82% NA 0.0003994 NA 405 0 0% 318 148 31.76% NA NA NA 300 0 0% 125 149 54.38% NA NA NA 368 0 0% 322 149 31.63% NA NA NA 301 0 0% 294 150 33.78% NA NA NA 311 0 0% 88 150 63.03% NA NA NA 341 0 0% 336 150 30.86% NA NA NA 343 0 0% 119 150 55.76% NA NA NA 254 1 0.39% 210 151 41.83% NA NA NA 293 0 0% 268 151 36.04% ID=COSM7 LY6G6F:NM_001003 nonsynonymo 41892;OC 693:exon3:c.G481A: NA us SNV CURENCE p.E161K =1(lung) NA 329 0 0% 316 151 32.33% 8 1645447 G A DLGAP2 nonsynonymo us SNV Index Negative MO_1160 5 169028625 169028625 C T SPDL1 nonsynonymo us SNV Index Negative MO_1160 9 37740623 37740623 G A FRMPD1 nonsynonymo us SNV Index Negative MO_1160 14 24877642 24877642 G A NYNRIN nonsynonymo us SNV Index Negative MO_1160 3 120973822 120973822 G A STXBP5L nonsynonymo us SNV Index Negative MO_1160 2 238253283 238253283 A G COL6A3 nonsynonymo us SNV Index Negative MO_1160 45668876 C T GATM nonsynonymo us SNV Index Negative MO_1160 8 134063092 134063092 G A SLA nonsynonymo us SNV 45668876 284 NA Negative MO_1160 15 NA NA Index 1645447 ID=COSM4 80576,CO SM480577; NA OCCUREN CE=1(kidn ey) DLGAP2:NM_00127 7161:exon10:c.G264 9A:p.M883I,DLGAP2 :NM_004745:exon11 :c.G2691A:p.M897I SPDL1:NM_017785: exon11:c.C1666T:p. P556S FRMPD1:NM_01490 7:exon15:c.G2098A: p.E700K NYNRIN:NM_025081 :exon3:c.G766A:p.E 256K STXBP5L:NM_0149 80:exon16:c.G1522A :p.E508K COL6A3:NM_05716 6:exon33:c.T5557C: p.F1853L,COL6A3:N M_057167:exon35:c. T6760C:p.F2254L,C OL6A3:NM_004369: exon36:c.T7378C:p. F2460L GATM:NM_001482:e xon2:c.G211A:p.E71 K SLA:NM_006748:exo n2:c.C250T:p.R84C, SLA:NM_001045557 :exon3:c.C181T:p.R6 1C,SLA:NM_001282 964:exon3:c.C181T: p.R61C,SLA:NM_00 1045556:exon4:c.C1 30T:p.R44C NA NA NA 361 0 0% 300 151 33.48% NA NA NA 237 0 0% 264 152 36.54% NA NA NA 263 0 0% 252 152 37.62% NA NA NA 197 0 0% 217 153 41.35% NA NA NA 225 0 0% 375 153 28.98% NA NA NA 307 0 0% 282 153 35.17% NA NA NA 317 0 0% 109 153 58.40% NA NA NA 253 1 0.39% 254 154 37.75% Index Negative MO_1160 4 175898450 175898450 G 10 120801538 120801538 C A Index Negative MO_1160 Index Negative MO_1160 8 62212670 62212670 C T Index Negative MO_1160 1 11907344 11907344 T G Index Negative MO_1160 11 124294142 124294142 G A Index Negative MO_1160 15 80467368 C T Index Negative MO_1160 3 193007842 193007842 G A Index Negative MO_1160 9 78910195 G A Index Negative MO_1160 3 128181752 128181752 C T Index Negative MO_1160 2 27355144 27355144 G A Index Negative MO_1160 1 43893239 43893239 C T Index Negative MO_1160 19 49930730 49930730 C T Index Negative MO_1160 4 126371784 126371784 G A Index Negative MO_1160 18 77664137 77664137 C T Index Negative MO_1160 17 58134617 58134617 G A Index Negative MO_1160 13 46562929 46562929 C A Index Negative MO_1160 15 44069039 44069039 G A 80467368 78910195 A ADAM29 ELL3 Negative MO_1160 8 73480393 73480393 C T KCNB2 Index Negative MO_1160 11 47712337 47712337 G A AGBL2 Negative MO_1160 4 41615627 41615627 C G NA NA 332 0 0% 119 154 56.41% NA 232 0 0% 80 155 65.96% NA 241 0 0% 246 155 38.65% NA 249 0 0% 248 155 38.46% NA 334 0 0% 346 155 30.94% NA 341 0 0% 323 155 32.43% NA 123 0 0% 61 156 71.89% NA 144 1 0.69% 58 156 72.90% NA 295 0 0% 507 156 23.53% rs145736 506 319 0 0% 267 156 36.88% NA 332 0 0% 272 156 36.45% NA 282 0 0% 259 157 37.74% NA 313 1 0.32% 132 157 54.33% NA 388 0 0% 300 157 34.35% NA 271 0 0% 242 158 39.50% NA 276 0 0% 100 159 61.39% NA NA 288 0 0% 107 159 59.77% NA NA 296 0 0% 282 159 36.05% NA rs370614 257 298 0 0% 122 159 56.58% NA NA 303 0 0% 258 159 38.13% ID=COSM9 EIF3A:NM_003750:e 15313;OC nonsynonymo EIF3A xon19:c.G3494T:p.R CURENCE NA us SNV 1165I =1(endome trium) CLVS1:NM_173519: nonsynonymo CLVS1 exon2:c.C284T:p.A9 NA NA us SNV 5V NPPA:NM_006172:e nonsynonymo NPPA xon2:c.A276C:p.R92 NA NA us SNV S OR8B4:NM_001005 nonsynonymo OR8B4 196:exon1:c.C626T: NA NA us SNV p.S209F FAH:NM_000137:ex nonsynonymo FAH on10:c.C848T:p.P28 NA NA us SNV 3L ATP13A5:NM_19850 nonsynonymo ATP13A5 5:exon26:c.C2855T: NA NA us SNV p.S952L PCSK5:NM_001190 nonsynonymo PCSK5 482:exon26:c.G3190 NA NA us SNV A:p.D1064N DNAJB8:NM_15333 nonsynonymo DNAJB8 0:exon3:c.G337A:p. NA NA us SNV E113K ID=COSM1 PREB:NM_013388:e 262970;OC nonsynonymo PREB xon6:c.C880T:p.R29 CURENCE NA us SNV 4W =1(oesoph agus) SZT2:NM_015284:ex nonsynonymo SZT2 on25:c.C3466T:p.R1 NA NA us SNV 156C GFY:NM_001195256 nonsynonymo GFY :exon1:c.C1043T:p.P NA NA us SNV 348L FAT4:NM_00129128 5:exon9:c.G9619A:p. E3207K,FAT4:NM_0 nonsynonymo 01291303:exon9:c.G FAT4 NA NA us SNV 9619A:p.E3207K,FA T4:NM_024582:exon 9:c.G9613A:p.E3205 K PQLC1:NM_001146 345:exon5:c.G601A: nonsynonymo PQLC1 p.A201T,PQLC1:NM NA NA us SNV _025078:exon6:c.G6 55A:p.A219T HEATR6:NM_02207 nonsynonymo HEATR6 0:exon12:c.C1871T: NA NA us SNV p.P624L ZC3H13:NM_015070 nonsynonymo ZC3H13 :exon9:c.G1248T:p. NA NA us SNV R416S Index Index ADAM29:NM_00127 8127:exon2:c.G1774 A:p.G592R,ADAM29 :NM_001130705:exo n3:c.G1774A:p.G592 R,ADAM29:NM_001 130703:exon4:c.G17 74A:p.G592R,ADAM nonsynonymo 29:NM_001130704:e NA us SNV xon4:c.G1774A:p.G5 92R,ADAM29:NM_0 14269:exon5:c.G177 4A:p.G592R,ADAM2 9:NM_001278125:ex on6:c.G1774A:p.G59 2R,ADAM29:NM_00 1278126:exon6:c.G1 774A:p.G592R LIMCH1 nonsynonymo ELL3:NM_025165:ex NA us SNV on1:c.C61T:p.R21W KCNB2:NM_004770: nonsynonymo exon2:c.C424T:p.H1 NA us SNV 42Y AGBL2:NM_024783: nonsynonymo exon10:c.C922T:p.R NA us SNV 308C LIMCH1:NM_001112 719:exon2:c.C169G: p.R57G,LIMCH1:NM _001112720:exon2:c .C169G:p.R57G,LIM CH1:NM_001112717 :exon7:c.C631G:p.R 211G,LIMCH1:NM_0 nonsynonymo 01112718:exon7:c.C NA us SNV 631G:p.R211G,LIMC H1:NM_001289122:e xon7:c.C631G:p.R21 1G,LIMCH1:NM_001 289124:exon7:c.C15 4G:p.R52G,LIMCH1: NM_014988:exon7:c .C631G:p.R211G Index Negative MO_1160 1 17563909 C T Index Negative MO_1160 1 176526135 176526135 C T Index Negative MO_1160 15 74476310 T G Index Negative MO_1160 11 117870229 117870229 C T Index Negative MO_1160 11 124766458 124766458 G A Index Negative MO_1160 9 113170069 113170069 G A Index Negative MO_1160 3 171571414 171571414 T G Index Negative MO_1160 14 17563909 74476310 75989077 75989077 C T Index Negative MO_1160 18 22057054 22057054 C T Index Negative MO_1160 1 34643397 34643397 G A Index Negative MO_1160 2 233321172 233321172 G A Index Negative MO_1160 17 45368326 45368326 C T Index Negative MO_1160 10 98744351 98744351 G A Index Negative MO_1160 17 59489910 59489910 G A Index Negative MO_1160 16 1706274 1706274 C T Index Negative MO_1160 1 167038228 167038228 C T Index Negative MO_1160 9 135073377 135073377 G A Index Negative MO_1160 1 222721248 222721248 C T Index Negative MO_1160 Index Index 19 45029217 45029217 G A Negative MO_1160 2 162280496 162280496 G A Negative MO_1160 1 T 23689355 23689355 C PADI1:NM_013358:e nonsynonymo xon12:c.C1414T:p.H us SNV 472Y PAPPA2:NM_02031 8:exon2:c.C677T:p.S nonsynonymo PAPPA2 226F,PAPPA2:NM_0 us SNV 21936:exon2:c.C677 T:p.S226F STRA6:NM_0011426 17:exon14:c.A1187C :p.H396P,STRA6:N M_001142618:exon1 4:c.A1187C:p.H396P ,STRA6:NM_001142 619:exon14:c.A1160 C:p.H387P,STRA6:N nonsynonymo M_001199040:exon1 STRA6 us SNV 4:c.A1298C:p.H433P ,STRA6:NM_001199 041:exon14:c.A1232 C:p.H411P,STRA6:N M_001199042:exon1 4:c.A1304C:p.H435P ,STRA6:NM_022369 :exon14:c.A1187C:p. H396P IL10RA:NM_001558: nonsynonymo IL10RA exon7:c.C1610T:p.S us SNV 537F ROBO4:NM_019055: nonsynonymo ROBO4 exon3:c.C509T:p.S1 us SNV 70L SVEP1:NM_153366: nonsynonymo SVEP1 exon38:c.C7811T:p. us SNV S2604F TMEM212:NM_0011 nonsynonymo TMEM212 64436:exon3:c.T317 us SNV G:p.F106C PADI1 BATF NA NA NA 425 0 0% 317 159 33.40% NA NA NA 278 0 0% 267 160 37.47% NA NA NA 323 0 0% 270 160 37.21% NA NA NA 324 0 0% 286 160 35.87% NA NA NA 331 0 0% 304 160 34.48% NA NA NA 341 0 0% 289 160 35.63% NA NA NA 274 0 0% 291 161 35.62% nonsynonymo BATF:NM_006399:e NA us SNV xon1:c.C52T:p.P18S NA NA 287 0 0% 270 161 37.35% NA NA 267 0 0% 280 162 36.65% NA NA 329 1 0.30% 289 162 35.92% NA NA 365 0 0% 264 162 38.03% NA NA 368 0 0% 310 162 34.32% NA NA 368 1 0.27% 122 164 57.34% NA NA 239 0 0% 233 165 41.46% NA NA 296 0 0% 277 165 37.33% ID=COSM5 GPA33:NM_005814: nonsynonymo 30443;OC exon3:c.G346A:p.E1 NA us SNV CURENCE 16K =1(lung) NA 414 0 0% 335 165 HRH4:NM_0011438 28:exon2:c.C437T:p. nonsynonymo HRH4 S146L,HRH4:NM_02 NA us SNV 1624:exon3:c.C701T :p.S234L C1orf94:NM_001134 nonsynonymo C1orf94 734:exon1:c.G7A:p. NA us SNV G3S ALPI:NM_001631:ex nonsynonymo ALPI on2:c.G181A:p.D61 NA us SNV N ID=COSM1 153080,CO SM35501; ITGB3:NM_000212:e OCCUREN nonsynonymo ITGB3 xon9:c.C1132T:p.R3 CE=2(centr us SNV 78C al_nervous _system),1 (endometri um) C10orf12:NM_01565 nonsynonymo C10orf12 2:exon1:c.G3204A:p. NA us SNV M1068I C17orf82:NM_20342 nonsynonymo C17orf82 5:exon1:c.G574A:p. NA us SNV G192S CRAMP1L:NM_0208 nonsynonymo CRAMP1L 25:exon9:c.C1516T: NA us SNV p.P506S GPA33 NTNG2:NM_032536: nonsynonymo NTNG2 exon3:c.G238A:p.E8 us SNV 0K HHIPL2:NM_024746: nonsynonymo HHIPL2 exon1:c.G139A:p.D4 us SNV 7N CEACAM20:NM_001 102597:exon2:c.C11 3T:p.P38L,CEACAM 20:NM_001102598:e xon2:c.C113T:p.P38 CEACAM nonsynonymo L,CEACAM20:NM_0 20 us SNV 01102599:exon2:c.C 113T:p.P38L,CEACA M20:NM_001102600 :exon2:c.C113T:p.P3 8L TBR1:NM_006593:e nonsynonymo TBR1 xon6:c.G1807A:p.D6 us SNV 03N ZNF436:NM_030634 :exon3:c.G520A:p.G nonsynonymo ZNF436 174S,ZNF436:NM_0 us SNV 01077195:exon4:c.G 520A:p.G174S 33% NA NA NA 163 0 0% 47 166 77.93% NA NA NA 261 0 0% 257 167 39.39% NA NA NA 367 0 0% 126 167 NA NA NA 440 0 0% 281 167 37.28% NA NA NA 332 0 0% 285 168 37.09% 57% Index Negative MO_1160 3 122003412 122003412 G A CASR nonsynonymo us SNV Index Negative MO_1160 6 32065855 G A TNXB nonsynonymo us SNV Index Negative MO_1160 3 119886562 119886562 G A GPR156 nonsynonymo us SNV Index Negative MO_1160 6 106555224 106555224 G A PRDM1 nonsynonymo us SNV Index Negative MO_1160 7 150915904 150915904 C T ABCF2 nonsynonymo us SNV Index Negative MO_1160 23892771 G A MAGEL2 nonsynonymo us SNV Index Negative MO_1160 6 155458420 155458420 C T TIAM2 nonsynonymo us SNV Index Negative MO_1160 4 88533642 88533642 G A DSPP nonsynonymo us SNV Index Negative MO_1160 14 70926284 70926284 C T ADAM21 nonsynonymo us SNV Index Negative MO_1160 10 75671693 75671693 G A C10orf55 nonsynonymo us SNV Index Negative MO_1160 1 150525629 150525629 C T ADAMTS nonsynonymo L4 us SNV T HTR3E nonsynonymo us SNV 15 32065855 23892771 Index Negative MO_1160 3 183818258 183818258 C Index Negative MO_1160 11 58377344 58377344 C T ZFP91 nonsynonymo us SNV Index Negative MO_1160 11 7111477 7111477 G A RBMXL2 nonsynonymo us SNV Index Negative MO_1160 34149089 34149089 C T FAM47A nonsynonymo us SNV Index Negative MO_1160 30976673 30976673 G A SETD1A nonsynonymo us SNV Index Negative MO_1160 5 148406846 148406846 C T SH3TC2 nonsynonymo us SNV Index Negative MO_1160 45522817 C T TRAPPC1 nonsynonymo 0 us SNV Index Negative MO_1160 6 159457283 159457283 C T TAGAP nonsynonymo us SNV Index Negative MO_1160 2 233393643 233393643 C T CHRND nonsynonymo us SNV Index Negative MO_1160 3 10312176 10312176 C T TATDN2 nonsynonymo us SNV Index Negative MO_1160 11 18956237 18956237 A G MRGPRX nonsynonymo 1 us SNV Index Negative MO_1160 2 21230621 21230621 G A APOB nonsynonymo us SNV Index Negative MO_1160 6 30571567 30571567 G A PPP1R10 nonsynonymo us SNV X 16 21 45522817 CASR:NM_000388:e xon7:c.G2611A:p.E8 71K,CASR:NM_0011 78065:exon7:c.G264 1A:p.E881K TNXB:NM_019105:e xon2:c.C121T:p.P41 S GPR156:NM_00116 8271:exon9:c.C1750 T:p.L584F,GPR156: NM_153002:exon9:c .C1762T:p.L588F PRDM1:NM_182907: exon5:c.G1939A:p.G 647R,PRDM1:NM_0 01198:exon7:c.G234 1A:p.G781R ABCF2:NM_005692: exon9:c.G1073A:p.S 358N,ABCF2:NM_00 7189:exon9:c.G1073 A:p.S358N MAGEL2:NM_01906 6:exon1:c.C119T:p.P 40L TIAM2:NM_012454:e xon4:c.C1304T:p.S4 35F DSPP:NM_014208:e xon4:c.G304A:p.E10 2K ADAM21:NM_00381 3:exon2:c.C2068T:p. P690S C10orf55:NM_00100 1791:exon5:c.C206T :p.S69F ADAMTSL4:NM_001 288607:exon5:c.C33 4T:p.P112S,ADAMT SL4:NM_001288608: exon5:c.C334T:p.P1 12S,ADAMTSL4:NM _019032:exon5:c.C3 34T:p.P112S,ADAM TSL4:NM_025008:ex on5:c.C334T:p.P112 S HTR3E:NM_001256 614:exon1:c.C98T:p. S33L,HTR3E:NM_18 2589:exon1:c.C98T: p.S33L,HTR3E:NM_ 198314:exon1:c.C98 T:p.S33L ZFP91:NM_0011970 51:exon3:c.C412T:p. P138S,ZFP91:NM_0 53023:exon3:c.C412 T:p.P138S RBMXL2:NM_01446 9:exon1:c.G1126A:p. G376R FAM47A:NM_20340 8:exon1:c.G1307A:p. R436K SETD1A:NM_01471 2:exon7:c.G1610A:p. G537E SH3TC2:NM_02457 7:exon11:c.G2449A: p.D817N TRAPPC10:NM_003 274:exon22:c.C3505 T:p.P1169S TAGAP:NM_001278 733:exon6:c.G1583A :p.G528E,TAGAP:N M_152133:exon9:c. G1238A:p.G413E,TA GAP:NM_054114:ex on10:c.G1772A:p.G5 91E CHRND:NM_001256 657:exon5:c.C536T: p.P179L,CHRND:NM _000751:exon6:c.C5 81T:p.P194L TATDN2:NM_01476 0:exon4:c.C1310T:p. S437L MRGPRX1:NM_1471 99:exon1:c.T95C:p.V 32A APOB:NM_000384:e xon26:c.C9119T:p.S 3040L PPP1R10:NM_0027 14:exon15:c.C1562T :p.P521L NA NA NA 425 0 0% 500 168 25.15% NA NA NA 281 0 0% 298 169 36.19% NA NA NA 288 0 0% 446 169 27.48% NA NA NA 335 0 0% 325 169 34.21% NA NA NA 371 0 0% 335 169 33.53% NA NA NA 260 0 0% 96 170 63.91% NA NA NA 267 0 0% 295 170 36.56% NA NA rs377628 362 347 0 0% 115 170 59.65% NA NA NA 375 0 0% 317 170 34.91% NA NA NA 267 0 0% 93 171 64.77% NA NA NA 312 1 0.32% 293 171 36.85% ID=COSM1 693857;OC NA CURENCE =1(skin) NA 341 0 0% 277 171 38.17% NA NA NA 321 0 0% 282 172 37.89% NA NA NA 341 1 0.29% 133 172 56.39% NA NA NA 172 0 0% 61 173 73.93% NA NA NA 255 0 0% 308 174 36.10% NA NA NA 315 0 0% 296 174 37.02% NA NA NA 487 0 0% 432 174 28.71% NA NA NA 306 0 0% 306 175 36.38% NA NA NA 327 0 0% 282 175 38.29% NA NA NA 289 0 0% 113 176 60.90% NA NA NA 511 1 0.20% 366 176 32.47% NA NA NA 283 0 0% 283 177 38.48% NA NA NA 303 0 0% 323 177 35.40% Index Negative MO_1160 3 173993119 173993119 G Index Negative MO_1160 X 14599427 Index Negative MO_1160 Index Negative MO_1160 19 4902675 Index Negative MO_1160 17 Index Negative MO_1160 8 Index A NLGN1 14599427 T A GLRA2 2 226446755 226446755 G A NYAP2 4902675 C T ARRDC5 35913348 35913348 T C SYNRG 38677369 38677369 G A TACC1 Negative MO_1160 1 113239079 113239079 C T MOV10 Index Negative MO_1160 5 35955770 35955770 C T UGT3A1 Index Negative MO_1160 17 56619268 56619268 G A C17orf47 Index Negative MO_1160 12 49443901 49443901 G A KMT2D Index Negative MO_1160 16 30012263 30012263 C T INO80E Index Negative MO_1160 22 25425020 25425020 C T KIAA1671 Index Negative MO_1160 15 90320321 90320321 C T MESP2 Index Negative MO_1160 14 95921989 95921989 G A SYNE3 Index Negative MO_1160 19 56701497 56701497 G A ZSCAN5B Index Negative MO_1160 16 27751384 27751384 A G KIAA0556 Index Negative MO_1160 11 45274136 45274136 G A SYT13 Index Negative MO_1160 1 12677251 12677251 C T DHRS3 Index Negative MO_1160 6 56505164 56505164 G A DST ID=COSM1 NLGN1:NM_014932: 650092,CO nonsynonymo exon5:c.G661A:p.G2 SM582551; NA us SNV 21S OCCUREN CE=1(lung) GLRA2:NM_001118 886:exon4:c.T393A: p.D131E,GLRA2:NM _002063:exon4:c.T3 nonsynonymo 93A:p.D131E,GLRA NA us SNV 2:NM_001118885:ex on5:c.T393A:p.D131 E,GLRA2:NM_00117 1942:exon6:c.T126A :p.D42E ID=COSM1 NYAP2:NM_020864: 017248;OC nonsynonymo exon4:c.G622A:p.D2 CURENCE us SNV 08N =3(endome trium) ARRDC5:NM_00108 nonsynonymo 0523:exon1:c.G205A NA us SNV :p.E69K SYNRG:NM_001163 547:exon12:c.A1994 G:p.E665G,SYNRG: NM_001163544:exo n13:c.A2243G:p.E74 8G,SYNRG:NM_001 163545:exon13:c.A2 240G:p.E747G,SYN nonsynonymo RG:NM_001163546: NA us SNV exon13:c.A2243G:p. E748G,SYNRG:NM_ 080550:exon13:c.A2 243G:p.E748G,SYN RG:NM_198882:exo n13:c.A2243G:p.E74 8G,SYNRG:NM_007 247:exon14:c.A2477 G:p.E826G TACC1:NM_001146 216:exon3:c.G22A:p. nonsynonymo V8I,TACC1:NM_006 NA us SNV 283:exon3:c.G607A: p.V203I MOV10:NM_001130 079:exon13:c.C1904 T:p.P635L,MOV10:N nonsynonymo M_020963:exon13:c. NA us SNV C1904T:p.P635L,MO V10:NM_001286072: exon14:c.C1736T:p. P579L UGT3A1:NM_15240 nonsynonymo 4:exon6:c.G1272A:p. NA us SNV M424I C17orf47:NM_00103 nonsynonymo 8704:exon2:c.C1621 NA us SNV T:p.L541F KMT2D:NM_003482: nonsynonymo exon11:c.C3470T:p. NA us SNV P1157L INO80E:NM_173618 nonsynonymo :exon5:c.C298T:p.P1 NA us SNV 00S KIAA1671:NM_0011 nonsynonymo 45206:exon1:c.C105 NA us SNV 4T:p.R352C MESP2:NM_001039 nonsynonymo 958:exon1:c.C733T: NA us SNV p.P245S SYNE3:NM_152592: nonsynonymo exon5:c.C862T:p.R2 NA us SNV 88W ZSCAN5B:NM_0010 nonsynonymo 80456:exon4:c.C118 NA us SNV 7T:p.S396L KIAA0556:NM_0152 nonsynonymo 02:exon15:c.A1766G NA us SNV :p.N589S SYT13:NM_020826: exon4:c.C682T:p.P2 nonsynonymo 28S,SYT13:NM_001 NA us SNV 247987:exon6:c.C25 0T:p.P84S DHRS3:NM_004753: nonsynonymo exon1:c.G103A:p.D3 NA us SNV 5N DST:NM_001723:ex on4:c.C656T:p.S219 F,DST:NM_015548:e xon4:c.C656T:p.S21 9F,DST:NM_183380: nonsynonymo exon14:c.C1634T:p. NA us SNV S545F,DST:NM_001 144770:exon15:c.C1 754T:p.S585F,DST: NM_001144769:exo n17:c.C2168T:p.S72 3F NA 172 0 0% 97 178 64.73% NA NA 209 0 0% 63 178 73.86% NA NA 362 0 0% 369 178 32.54% NA NA 426 0 0% 121 180 59.80% NA NA 378 0 0% 327 181 35.63% NA NA 281 0 0% 258 182 41.36% NA NA 376 1 0.27% 392 182 31.71% rs199844 466 409 0 0% 375 182 32.68% NA NA 268 0 0% 248 183 42.46% NA NA 292 0 0% 258 183 41.50% NA NA 316 0 0% 310 183 37.12% NA NA 318 0 0% 314 183 36.82% NA NA 355 0 0% 351 183 34.27% NA NA 280 0 0% 284 184 39.32% NA rs376043 891 339 0 0% 337 184 35.32% NA NA 361 0 0% 294 184 38.49% NA NA 366 0 0% 107 184 63.23% NA NA 401 0 0% 366 186 33.70% NA NA 283 0 0% 278 187 40.22% 0.0003994 Index Negative MO_1160 19 47156253 47156253 T G Index Negative MO_1160 1 34667837 34667837 C T Index Negative MO_1160 14 20389043 20389043 C T Index Negative MO_1160 17 4647340 4647340 C T Index Negative MO_1160 21 46900021 46900021 C T DACT3:NM_145056: nonsynonymo exon2:c.A329C:p.E1 us SNV 10A C1orf94:NM_001134 734:exon4:c.C1423T nonsynonymo C1orf94 :p.H475Y,C1orf94:N us SNV M_032884:exon4:c. C853T:p.H285Y OR4K5:NM_001005 nonsynonymo OR4K5 483:exon1:c.C278T: us SNV p.S93F ZMYND15:NM_0011 36046:exon8:c.C143 nonsynonymo 3T:p.A478V,ZMYND ZMYND15 us SNV 15:NM_001267822:e xon8:c.C1433T:p.A4 78V DACT3 NA NA NA 412 0 0% 393 187 32.24% NA NA NA 413 0 0% 340 187 35.48% NA NA NA 331 0 0% 388 188 32.64% NA NA NA 440 0 0% 157 188 54.49% COL18A1:NM_0305 82:exon10:c.C1889T nonsynonymo COL18A1 :p.P630L,COL18A1: NA us SNV NM_130445:exon11: c.C1349T:p.P450L NA NA 302 0 0% 288 189 39.62% NA NA NA 313 0 0% 307 189 38.10% NA NA NA 319 0 0% 315 189 37.50% NA NA NA 369 0 0% 333 190 36.33% NA NA NA 397 0 0% 341 190 35.78% NA NA NA 419 0 0% 354 190 34.93% ULK3:NM_00109943 6:exon6:c.C617T:p.A 206V,ULK3:NM_001 284364:exon6:c.C61 7T:p.A206V,ULK3:N M_001284365:exon6 :c.C266T:p.A89V ISG15:NM_005101:e xon2:c.G487A:p.G16 3R CD180:NM_005582: exon3:c.G947A:p.G3 16E CACNA1G:NM_0012 56324:exon9:c.C200 3T:p.P668L,CACNA 1G:NM_001256325: exon9:c.C2003T:p.P 668L,CACNA1G:NM _001256326:exon9:c .C2003T:p.P668L,C ACNA1G:NM_00125 6327:exon9:c.C2003 T:p.P668L,CACNA1 G:NM_001256328:ex on9:c.C2003T:p.P66 8L,CACNA1G:NM_0 01256329:exon9:c.C 2003T:p.P668L,CAC NA1G:NM_0012563 30:exon9:c.C2003T: p.P668L,CACNA1G: NM_001256331:exo n9:c.C2003T:p.P668 L,CACNA1G:NM_00 1256332:exon9:c.C2 003T:p.P668L,CACN A1G:NM_001256333 :exon9:c.C2003T:p.P 668L,CACNA1G:NM _001256334:exon9:c .C2003T:p.P668L,C PAX4:NM_006193:e xon6:c.G676A:p.E22 6K C3:NM_000064:exon 22:c.G2800A:p.E934 K Index Negative MO_1160 15 75132654 75132654 G A ULK3 nonsynonymo us SNV Index Negative MO_1160 1 949847 949847 G A ISG15 nonsynonymo us SNV Index Negative MO_1160 5 66479724 66479724 C T CD180 nonsynonymo us SNV Index Negative MO_1160 17 48655627 48655627 C T CACNA1 G nonsynonymo us SNV Index Negative MO_1160 7 127253091 127253091 C T PAX4 nonsynonymo us SNV Index Negative MO_1160 T C3 nonsynonymo us SNV NA NA NA 331 0 0% 110 191 63.46% NA NA 343 0 0% 279 192 40.76% NA NA NA 361 1 0.28% 334 192 36.50% NA NA NA 424 0 0% 366 192 34.41% NA NA NA 245 0 0% 234 193 45.20% NA NA NA 352 0 0% 300 194 39.27% 19 6696667 6696667 C Index Negative MO_1160 1 247737557 247737557 C T GCSAML:NM_00128 1838:exon5:c.C185T :p.S62F,GCSAML:N M_145278:exon5:c. C281T:p.S94F,GCS AML:NM_001281835 :exon6:c.C221T:p.S7 4F,GCSAML:NM_00 nonsynonymo GCSAML 1281836:exon6:c.C1 NA us SNV 85T:p.S62F,GCSAM L:NM_001281837:ex on6:c.C185T:p.S62F ,GCSAML:NM_0012 81834:exon7:c.C221 T:p.S74F,GCSAML: NM_001281853:exo n7:c.C281T:p.S94F Index Negative MO_1160 2 219603061 219603061 C T TTLL4 Index Negative MO_1160 17 38928301 38928301 G A KRT26 Index Negative MO_1160 19 45262739 45262739 C T BCL3 Index Negative MO_1160 14 47504385 47504385 C T MDGA2 TTLL4:NM_014640:e nonsynonymo xon3:c.C662T:p.S22 us SNV 1F KRT26:NM_181539: nonsynonymo exon1:c.C65T:p.S22 us SNV F BCL3:NM_005178:e nonsynonymo xon9:c.C1232T:p.P4 us SNV 11L MDGA2:NM_001113 498:exon8:c.G1441A nonsynonymo :p.D481N,MDGA2:N us SNV M_182830:exon8:c. G754A:p.D252N Index Negative MO_1160 2 179430427 179430427 C T TTN Index Negative MO_1160 1 A ZNF683 Index Negative MO_1160 26691142 26691142 G 3 121712337 121712337 C Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 20 Index Negative MO_1160 Index Index A TRIOBP 1 212870401 212870401 C T BATF3 50768782 50768782 G A ZFP64 17 40940161 40940161 C T WNK4 Negative MO_1160 2 21228119 21228119 C T APOB Negative MO_1160 14 90755116 90755116 G A NRDE2 Negative MO_1160 Index 9858642 C T GRIN2A Negative MO_1160 7 148964031 148964031 C T ZNF783 Index Negative MO_1160 1 158436166 158436166 C T OR10K1 Index Negative MO_1160 57947416 C T OR9Q1 Index Negative MO_1160 135431395 135431395 G A GPR112 Index Negative MO_1160 16 38131052 ILDR1 38131052 G Index 22 T 11 X 19 9858642 57947416 55317454 55317454 G A KIR2DL4 Index Negative MO_1160 15 42978707 42978707 C T STARD9 Index Negative MO_1160 20 34242952 34242952 G A RBM12 Index Negative MO_1160 3 121980694 121980694 C T CASR TTN:NM_003319:ex on154:c.G53237A:p. R17746K,TTN:NM_1 33432:exon155:c.G5 3612A:p.R17871K,T TN:NM_133437:exon 155:c.G53813A:p.R1 nonsynonymo 7938K,TTN:NM_133 NA us SNV 378:exon275:c.G727 28A:p.R24243K,TTN :NM_001256850:exo n276:c.G75509A:p.R 25170K,TTN:NM_00 1267550:exon326:c. G80432A:p.R26811 K ZNF683:NM_001114 759:exon4:c.C895T: nonsynonymo p.P299S,ZNF683:N NA us SNV M_173574:exon4:c. C895T:p.P299S NA NA 370 1 0.27% 337 194 36.53% NA NA 423 0 0% 329 195 37.21% NA NA 245 0 0% 209 196 48.40% NA NA NA 353 0 0% 304 196 39.20% NA NA NA 364 0 0% 324 196 37.69% NA NA NA 369 0 0% 314 196 38.43% NA NA NA 414 0 0% 331 196 37.19% NA NA NA 429 0 0% 378 196 34.15% NA NA NA 397 0 0% 382 197 34.02% ID=COSM1 07548;OC NA CURENCE =1(NS) NA 317 0 0% 345 198 36.46% NA NA NA 393 0 0% 326 198 37.79% NA NA NA 484 0 0% 418 198 32.14% NA NA NA 441 1 0.23% 368 199 35.10% NA NA NA 174 0 0% 56 200 78.12% ID=COSM2 15794,CO SM215793; KIR2DL4:NM_00108 OCCUREN 0770:exon4:c.G410A CE=1(hae nonsynonymo :p.R137H,KIR2DL4: matopoieti 0.0001997 NA us SNV NM_001080772:exo c_and_lym n4:c.G410A:p.R137 phoid_tissu H e),1(central _nervous_ system) 303 1 0.33% 343 200 36.83% ILDR1:NM_0011998 00:exon5:c.G992A:p. S331N,ILDR1:NM_1 nonsynonymo 75924:exon6:c.G112 NA us SNV 7A:p.S376N,ILDR1:N M_001199799:exon7 :c.G1259A:p.S420N TRIOBP:NM_001039 nonsynonymo 141:exon9:c.G4709A us SNV :p.G1570E BATF3:NM_018664: nonsynonymo exon2:c.G97A:p.E33 us SNV K ZFP64:NM_022088: exon5:c.C1787T:p.S 596F,ZFP64:NM_01 nonsynonymo 8197:exon6:c.C1949 us SNV T:p.S650F,ZFP64:N M_199426:exon6:c. C1943T:p.S648F WNK4:NM_032387:e nonsynonymo xon9:c.C1877T:p.S6 us SNV 26F APOB:NM_000384:e nonsynonymo xon26:c.G11621A:p. us SNV G3874E NRDE2:NM_017970: nonsynonymo exon11:c.C2603T:p. us SNV A868V GRIN2A:NM_001134 407:exon13:c.G2759 A:p.R920K,GRIN2A: nonsynonymo NM_001134408:exo us SNV n13:c.G2759A:p.R92 0K,GRIN2A:NM_000 833:exon14:c.G2759 A:p.R920K ZNF783:NM_001195 nonsynonymo 220:exon3:c.C542T: us SNV p.S181F OR10K1:NM_00100 nonsynonymo 4473:exon1:c.C815T us SNV :p.T272I OR9Q1:NM_001005 nonsynonymo 212:exon3:c.C500T: us SNV p.S167F GPR112:NM_15383 nonsynonymo 4:exon6:c.G5530A:p. us SNV E1844K STARD9:NM_02075 nonsynonymo 9:exon23:c.C4931T: NA us SNV p.S1644F RBM12:NM_001198 840:exon2:c.C293T: p.P98L,RBM12:NM_ 001198838:exon3:c. nonsynonymo C293T:p.P98L,RBM NA us SNV 12:NM_006047:exon 3:c.C293T:p.P98L,R BM12:NM_152838:e xon3:c.C293T:p.P98 L CASR:NM_000388:e xon4:c.C812T:p.S27 nonsynonymo 1F,CASR:NM_00117 NA us SNV 8065:exon4:c.C812T :p.S271F NA NA 334 0 0% 141 200 58.65% NA NA 344 0 0% 367 200 35.27% NA NA 351 0 0% 553 200 26.56% PLAG1:NM_0011146 35:exon3:c.G850A:p. G284S,PLAG1:NM_ 001114634:exon4:c. G1096A:p.G366S,PL AG1:NM_002655:ex on5:c.G1096A:p.G36 6S N4BP3:NM_015111: exon2:c.G268A:p.E9 0K OR2C3:NM_198074: exon2:c.G286A:p.G9 6R DMRT3:NM_021240: exon2:c.C703T:p.P2 35S Index Negative MO_1160 8 57079209 C T PLAG1 nonsynonymo us SNV Index Negative MO_1160 5 177546852 177546852 G A N4BP3 nonsynonymo us SNV Index Negative MO_1160 1 247695528 247695528 C T OR2C3 nonsynonymo us SNV Index Negative MO_1160 9 T DMRT3 nonsynonymo us SNV DIDO1 DIDO1:NM_0011933 69:exon16:c.C3902T nonsynonymo :p.S1301F,DIDO1:N NA us SNV M_033081:exon16:c. C3902T:p.S1301F Index Negative MO_1160 20 57079209 990289 61513406 990289 C 61513406 G A Index Negative MO_1160 11 130343223 130343223 G A Index Negative MO_1160 6 146755231 146755231 G A Index Negative MO_1160 1 244217707 244217707 G A Index Negative MO_1160 1 248569723 248569723 C T Index Negative MO_1160 1 110465791 110465791 T G Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 14 20850500 G A 7 143175150 143175150 G A 15 20850500 92669426 92669426 C T NA NA NA 417 0 0% 371 200 35.03% NA NA NA 449 0 0% 382 200 34.36% 0.0001997 NA 471 0 0% 366 200 35.34% NA 335 0 0% 118 201 63.01% 0.0001997 NA 338 2 0.59% 326 201 38.14% NA NA ADAMTS15:NM_139 ADAMTS nonsynonymo 055:exon8:c.G2360A NA 15 us SNV :p.G787E GRM1:NM_0012780 nonsynonymo GRM1 64:exon8:c.G2884A: NA us SNV p.D962N ZBTB18 NA NA 432 0 0% 381 202 34.65% NA NA 449 0 0% 372 202 35.19% NA NA 300 0 0% 294 203 40.85% NA NA NA 401 2 0.50% 388 203 34.35% NA NA NA 407 0 0% 377 203 rs144008 371 454 0 0% 323 203 38.59% ZBTB18:NM_006352 :exon1:c.G604A:p.E 202K,ZBTB18:NM_0 nonsynonymo 01278196:exon2:c.G NA us SNV 604A:p.E202K,ZBTB 18:NM_205768:exon 2:c.G631A:p.E211K OR2T1:NM_030904: nonsynonymo OR2T1 exon1:c.C428T:p.S1 us SNV 43F CSF1:NM_000757:e xon6:c.T548G:p.V18 3G,CSF1:NM_17221 nonsynonymo CSF1 0:exon6:c.T548G:p. us SNV V183G,CSF1:NM_17 2212:exon6:c.T548G :p.V183G TEP1:NM_007110:e nonsynonymo TEP1 xon29:c.C4156T:p.R us SNV 1386W TAS2R41:NM_17688 nonsynonymo TAS2R41 3:exon1:c.G185A:p. us SNV G62E NA NA 0.000599 35% NA NA NA 491 0 0% 346 203 36.98% SLCO3A1:NM_0011 45044:exon6:c.C131 nonsynonymo SLCO3A1 0T:p.S437F,SLCO3A NA us SNV 1:NM_013272:exon6 :c.C1310T:p.S437F NA NA 517 0 0% 455 204 30.96% NA NA NA 373 0 0% 342 205 37.48% NA NA NA 284 0 0% 124 206 62.42% NA NA NA 371 1 0.27% 324 206 38.87% PKHD1:NM_138694: exon32:c.G5063A:p. G1688E,PKHD1:NM _170724:exon32:c.G 5063A:p.G1688E ANKRD11:NM_0012 56183:exon9:c.T379 3A:p.S1265T,ANKR D11:NM_013275:exo n9:c.T3793A:p.S126 5T,ANKRD11:NM_0 01256182:exon10:c. T3793A:p.S1265T PCDHB1:NM_01334 0:exon1:c.C1171T:p. P391S FOXN1:NM_003593: exon2:c.A440C:p.H1 47P Index Negative MO_1160 6 51889545 51889545 C T PKHD1 nonsynonymo us SNV Index Negative MO_1160 16 89349157 89349157 A T ANKRD11 nonsynonymo us SNV Index Negative MO_1160 5 140432226 140432226 C T PCDHB1 nonsynonymo us SNV Index Negative MO_1160 C FOXN1 nonsynonymo us SNV NA NA NA 371 1 0.27% 337 206 37.94% HSPG2 HSPG2:NM_001291 860:exon34:c.C4301 nonsynonymo T:p.P1434L,HSPG2: NA us SNV NM_005529:exon34: c.C4298T:p.P1433L NA NA 409 0 0% 331 206 38.36% NA NA 349 0 0% 569 207 26.68% NA NA 383 0 0% 379 207 35.32% Index Negative MO_1160 17 1 26851837 22192226 26851837 A 22192226 G A Index Negative MO_1160 3 123419032 123419032 C T MYLK Index Negative MO_1160 2 179588743 179588743 T A TTN MYLK:NM_053026:e xon17:c.G3076A:p.G 1026R,MYLK:NM_05 3028:exon17:c.G307 nonsynonymo 6A:p.G1026R,MYLK: NA us SNV NM_053025:exon18: c.G3283A:p.G1095R ,MYLK:NM_053027: exon18:c.G3283A:p. G1095R TTN:NM_133378:ex on70:c.A17511T:p.K 5837N,TTN:NM_001 nonsynonymo 256850:exon71:c.A2 NA us SNV 0292T:p.K6764N,TT N:NM_001267550:ex on73:c.A21243T:p.K 7081N Index Negative MO_1160 17 18022751 18022751 C T Index Negative MO_1160 6 31079834 31079834 G A Index Negative MO_1160 10 27702443 27702443 C A Index Negative MO_1160 4 24838970 24838970 A G Index Negative MO_1160 11 93554466 93554466 G A Index Negative MO_1160 2 74784063 74784063 C T Index Negative MO_1160 1 236157089 236157089 G A Index Negative MO_1160 8 77767646 77767646 C T Index Negative MO_1160 3 47888420 47888420 G A Index Negative MO_1160 1 180165667 180165667 C T Index Negative MO_1160 3 190106015 190106015 C T Index Negative MO_1160 15 41797182 41797182 C T Index Negative MO_1160 8 23049317 23049317 C T Index Negative MO_1160 138643889 138643889 G A Index Negative MO_1160 3 47454596 47454596 G A Index Negative MO_1160 1 94522311 94522311 G A Index Negative MO_1160 Index Negative MO_1160 Index X X 70389925 X 65420505 70389925 C T MYO15A:NM_01623 nonsynonymo 9:exon2:c.C637T:p.P us SNV 213S C6orf15:NM_014070 nonsynonymo C6orf15 :exon2:c.C302T:p.S1 us SNV 01L PTCHD3:NM_00103 nonsynonymo PTCHD3 4842:exon1:c.G737T us SNV :p.G246V CCDC149:NM_0011 30726:exon6:c.T542 nonsynonymo CCDC149 C:p.V181A,CCDC14 us SNV 9:NM_173463:exon7 :c.T542C:p.V181A VSTM5:NM_001144 nonsynonymo VSTM5 871:exon2:c.C115T: us SNV p.P39S DOK1:NM_0011972 60:exon5:c.C851T:p. nonsynonymo DOK1 P284L,DOK1:NM_00 us SNV 1381:exon5:c.C1268 T:p.P423L NID1:NM_002508:ex nonsynonymo NID1 on13:c.C2611T:p.P8 us SNV 71S ZFHX4:NM_024721: nonsynonymo ZFHX4 exon10:c.C8489T:p. us SNV S2830F DHX30:NM_138615: exon11:c.G1858A:p. nonsynonymo DHX30 E620K,DHX30:NM_0 us SNV 14966:exon12:c.G17 41A:p.E581K QSOX1:NM_001004 128:exon12:c.C1739 nonsynonymo QSOX1 T:p.P580L,QSOX1:N us SNV M_002826:exon12:c. C1739T:p.P580L CLDN16:NM_00658 nonsynonymo CLDN16 0:exon1:c.C107T:p.S us SNV 36L LTK:NM_001135685 :exon14:c.G1616A:p. R539Q,LTK:NM_206 nonsynonymo LTK 961:exon15:c.G1823 us SNV A:p.R608Q,LTK:NM_ 002344:exon16:c.G2 006A:p.R669Q TNFRSF10A:NM_00 TNFRSF1 nonsynonymo 3844:exon10:c.G129 0A us SNV 7A:p.E433K F9:NM_000133:exon nonsynonymo F9 8:c.G1045A:p.G349 us SNV R PTPN23:NM_015466 nonsynonymo PTPN23 :exon25:c.G4832A:p. us SNV G1611E ABCA4:NM_000350: nonsynonymo ABCA4 exon15:c.C2228T:p. us SNV A743V MYO15A 415 0 0% 144 207 58.97% 0.0001997 NA 491 0 0% 433 207 32.34% NA NA NA 499 1 0.20% 177 207 53.91% NA NA NA 387 0 0% 371 208 35.92% NA NA NA 493 0 0% 376 209 35.73% NA NA NA 335 0 0% 307 210 40.62% NA NA NA 405 2 0.49% 335 211 38.64% NA NA NA 406 0 0% 403 211 34.36% NA NA NA 470 0 0% 160 212 56.99% NA NA NA 399 0 0% 374 213 36.29% NA NA NA 374 0 0% 339 214 38.70% rs138393 348 402 0 0% 141 214 60.28% NA 0.0001997 NA 443 0 0% 382 214 35.91% NA NA NA 211 1 0.47% 82 215 72.39% NA NA NA 347 0 0% 137 215 61.08% NA NA NA 470 0 0% 394 215 35.30% NLGN3 NLGN3:NM_001166 660:exon6:c.C2405T :p.S802L,NLGN3:NM nonsynonymo _018977:exon7:c.C2 NA us SNV 465T:p.S822L,NLGN 3:NM_181303:exon8 :c.C2525T:p.S842L NA NA 225 0 0% 78 216 73.47% HEPH:NM_014799:e xon11:c.A1187G:p.N 396S,HEPH:NM_001 nonsynonymo 130860:exon12:c.A1 NA us SNV 997G:p.N666S,HEP H:NM_138737:exon1 2:c.A2150G:p.N717S NA NA 292 0 0% 94 216 69.68% NA NA NA 385 1 0.26% 403 216 34.89% NA NA NA 441 0 0% 376 216 36.49% NA NA NA 541 0 0% 407 216 34.67% NA NA NA 217 0 0% 64 217 77.22% NA NA NA 433 0 0% 358 217 37.74% NA NA NA 445 0 0% 363 218 37.52% NA NA NA 505 0 0% 402 218 35.16% HEPH Negative MO_1160 1 151090520 151090520 G A GABPB2 Index Negative MO_1160 9 136699412 136699412 C T VAV2 Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index Index 30752741 30752741 G A SF3A1 22292333 22292333 A G ZNF645 23993701 23993701 G A ZFHX2 Negative MO_1160 2 242149967 242149967 C A ANO7 Negative MO_1160 11 130130865 130130865 C T ZBTB44 14 NA NA G X NA NA NA 65420505 A 22 NA GABPB2:NM_14461 nonsynonymo 8:exon9:c.G1135A:p. us SNV E379K VAV2:NM_00113439 8:exon4:c.G431A:p. nonsynonymo S144N,VAV2:NM_00 us SNV 3371:exon4:c.G431A :p.S144N SF3A1:NM_005877: nonsynonymo exon1:c.C41T:p.A14 us SNV V ZNF645:NM_152577 nonsynonymo :exon1:c.A1225G:p. us SNV T409A ZFHX2:NM_033400: nonsynonymo exon9:c.C5450T:p.P us SNV 1817L ANO7:NM_0010018 nonsynonymo 91:exon15:c.C1705A us SNV :p.H569N ZBTB44:NM_014155 nonsynonymo :exon2:c.G904A:p.E us SNV 302K 51457690 G A VPRBP nonsynonymo us SNV Negative MO_1160 11 133795741 133795741 G A IGSF9B nonsynonymo us SNV Index Negative MO_1160 21 31864143 C T KRTAP19- nonsynonymo 3 us SNV Index Negative MO_1160 1 226924043 226924043 C T ITPKB nonsynonymo us SNV Index Negative MO_1160 9 37537448 G A FBXO10 nonsynonymo us SNV Index Negative MO_1160 5 149918910 149918910 C T NDST1 nonsynonymo us SNV Index Negative MO_1160 125299403 125299403 C T DCAF12L nonsynonymo 2 us SNV Index Negative MO_1160 6 33632842 C T ITPR3 nonsynonymo us SNV Index Negative MO_1160 1 237947470 237947470 G A RYR2 nonsynonymo us SNV Index Negative MO_1160 6 96651339 C T FUT9 nonsynonymo us SNV Index Negative MO_1160 1 162337150 162337150 G A NOS1AP nonsynonymo us SNV Index Negative MO_1160 12 113758234 113758234 G A SLC8B1 nonsynonymo us SNV Index Negative MO_1160 T PLEKHH2 nonsynonymo us SNV Index Negative MO_1160 Index 3 X 2 51457690 31864143 37537448 33632842 96651339 43927427 Index Negative MO_1160 1 914729 G A PERM1 Index Negative MO_1160 4 147560372 147560372 C T POU4F2 17 914729 43927427 C Index Negative MO_1160 48683320 C T Index Negative MO_1160 2 220285003 220285003 G A Index Negative MO_1160 12 58200262 G A Index Negative MO_1160 12 123485384 123485384 G T Index Negative MO_1160 124455209 124455209 G A Index Negative MO_1160 3 121340610 121340610 C T Index Negative MO_1160 8 A X 48683320 58200262 18725382 18725382 G VPRBP:NM_001171 904:exon13:c.C2572 T:p.R858C,VPRBP: NM_014703:exon14: c.C2575T:p.R859C IGSF9B:NM_001277 285:exon14:c.C1927 T:p.P643S KRTAP193:NM_181609:exon1 :c.G133A:p.G45R ITPKB:NM_002221:e xon2:c.G1117A:p.G3 73R FBXO10:NM_01216 6:exon3:c.C1078T:p. P360S NDST1:NM_001543: exon7:c.C1558T:p.L 520F DCAF12L2:NM_001 013628:exon1:c.G50 5A:p.E169K ITPR3:NM_002224:e xon13:c.C1261T:p.P 421S RYR2:NM_001035:e xon90:c.G12458A:p. S4153N FUT9:NM_006581:e xon3:c.C308T:p.S10 3F NOS1AP:NM_00112 6060:exon2:c.G529A :p.E177K,NOS1AP:N M_001164757:exon1 0:c.G1399A:p.E467K ,NOS1AP:NM_01469 7:exon10:c.G1414A: p.E472K SLC8B1:NM_024959 :exon7:c.C596T:p.S1 99F PLEKHH2:NM_1720 69:exon8:c.C1330T: p.P444S NA NA NA 417 0 0% 132 220 62.50% NA NA NA 584 0 0% 451 221 32.89% NA NA NA 461 0 0% 401 222 35.63% NA NA NA 463 0 0% 454 222 32.84% NA NA NA 480 0 0% 409 224 35.39% NA NA NA 583 0 0% 449 225 33.38% NA NA NA 240 0 0% 100 226 69.33% NA NA NA 439 1 0.23% 377 226 37.48% NA NA NA 467 0 0% 417 226 35.15% NA NA NA 436 0 0% 353 227 39.14% NA NA NA 466 0 0% 363 228 38.58% NA NA NA 456 1 0.22% 354 229 39.28% NA NA NA 471 0 0% 408 229 35.95% PERM1:NM_001291 366:exon2:c.C1681T nonsynonymo :p.R561C,PERM1:N NA us SNV M_001291367:exon3 :c.C1399T:p.R467C NA NA 328 0 0% 341 230 40.28% NA NA 350 0 0% 126 230 64.61% ID=COSM9 81210,CO SM981208, COSM981 212,COSM NA 981211;OC CURENCE =1(endome trium) NA 547 0 0% 483 230 32.26% NA NA NA 449 1 0.22% 397 231 36.78% NA NA NA 513 0 0% 466 232 33.24% NA NA NA 572 2 0.35% 485 234 32.55% NA NA NA 214 0 0% 86 235 73.21% NA NA NA 397 0 0% 621 235 27.45% NA NA NA 405 0 0% 387 235 37.78% POU4F2:NM_00457 nonsynonymo 5:exon1:c.C80T:p.S2 us SNV 7L CACNA1G:NM_0012 56332:exon22:c.C42 89T:p.S1430L,CACN A1G:NM_198376:ex on22:c.C4289T:p.S1 430L,CACNA1G:NM _198379:exon22:c.C 4289T:p.S1430L,CA CNA1G:NM_198382: exon22:c.C4289T:p. S1430L,CACNA1G: NM_198383:exon22: c.C4289T:p.S1430L, CACNA1G:NM_1983 CACNA1 nonsynonymo 87:exon22:c.C4289T G us SNV :p.S1430L,CACNA1 G:NM_198388:exon2 2:c.C4289T:p.S1430 L,CACNA1G:NM_19 8396:exon22:c.C428 9T:p.S1430L,CACN A1G:NM_001256324 :exon23:c.C4358T:p. S1453L,CACNA1G: NM_001256325:exo n23:c.C4358T:p.S14 53L,CACNA1G:NM_ 001256326:exon23:c .C4358T:p.S1453L,C DES:NM_001927:ex nonsynonymo DES on3:c.G670A:p.D224 us SNV N AVIL:NM_006576:ex nonsynonymo AVIL on13:c.C1552T:p.H5 us SNV 18Y PITPNM2:NM_02084 nonsynonymo PITPNM2 5:exon9:c.C1165A:p. us SNV R389S LOC100129520:NM_ LOC1001 nonsynonymo 001195272:exon1:c. 29520 us SNV G1241A:p.G414E FBXO40:NM_01629 nonsynonymo FBXO40 8:exon3:c.C334T:p.H us SNV 112Y PSD3:NM_015310:e nonsynonymo PSD3 xon4:c.C1436T:p.T4 us SNV 79I NA Index Negative MO_1160 Index Negative MO_1160 2 215279114 215279114 G 17 80382334 80382334 C A VWC2L T HEXDC VWC2L:NM_001080 nonsynonymo 500:exon2:c.G197A: NA us SNV p.R66Q HEXDC:NM_173620: nonsynonymo exon3:c.C149T:p.P5 NA us SNV 0L NA rs370205 207 450 2 0.44% 416 236 36.20% NA NA 530 0 0% 413 236 36.36% NA NA 411 0 0% 402 237 37.09% NA NA NA 558 0 0% 463 238 33.95% NA NA NA 391 1 0.26% 355 239 40.24% NA NA NA 451 0 0% 378 239 38.74% NA NA NA 589 0 0% 399 239 37.46% NA NA NA 633 0 0% 495 239 32.56% NA NA NA 191 0 0% 88 240 73.17% NA NA NA 413 0 0% 400 240 37.50% NA NA NA 445 0 0% 336 240 41.67% NA NA NA 511 0 0% 424 241 36.24% NA NA NA 477 0 0% 455 242 34.72% NA NA NA 495 0 0% 414 242 36.89% NA NA NA 509 0 0% 428 242 36.12% NA NA NA 439 1 0.23% 375 243 39.32% NA NA NA 455 0 0% 423 243 36.49% NA NA NA 487 0 0% 358 244 40.53% NA NA NA 719 0 0% 723 245 25.31% NA NA NA 493 0 0% 491 246 33.38% Index Negative MO_1160 12 48359655 48359655 C T TMEM106C:NM_001 143841:exon4:c.C28 6T:p.L96F,TMEM106 C:NM_001143842:ex TMEM106 nonsynonymo on4:c.C286T:p.L96F, NA C us SNV TMEM106C:NM_001 143843:exon4:c.C28 6T:p.L96F,TMEM106 C:NM_024056:exon4 :c.C286T:p.L96F Index Negative MO_1160 8 42587045 42587045 G A CHRNB3 Index Negative MO_1160 2 46231702 46231702 C T Index Negative MO_1160 17 35454898 35454898 G A Index Negative MO_1160 18 76753483 76753483 C T Index Negative MO_1160 5 15928394 15928394 C T Index Negative MO_1160 9 126143791 126143791 C T Index Negative MO_1160 5 176778512 176778512 A T Index Negative MO_1160 17 46804309 46804309 C T Index Negative MO_1160 21 41450775 41450775 C T Index Negative MO_1160 1 110019517 110019517 C T Index Negative MO_1160 1 156912527 156912527 G A Index Negative MO_1160 1 26670739 C T Index Negative MO_1160 2 128471304 128471304 A C Index Negative MO_1160 5 179193294 179193294 C T Index Negative MO_1160 4 8607827 C T Index Negative MO_1160 5 140558804 140558804 T A Index Negative MO_1160 1 115263267 115263267 C T 26670739 8607827 CHRNB3:NM_00074 nonsynonymo 9:exon5:c.G595A:p. us SNV G199R PRKCE:NM_005400: nonsynonymo PRKCE exon8:c.C988T:p.P3 us SNV 30S ACACA:NM_198837: exon51:c.C6302T:p. A2101V,ACACA:NM _198838:exon52:c.C 6242T:p.A2081V,AC ACA:NM_198834:ex nonsynonymo ACACA on53:c.C6587T:p.A2 us SNV 196V,ACACA:NM_1 98836:exon53:c.C64 76T:p.A2159V,ACAC A:NM_198839:exon5 7:c.C6476T:p.A2159 V SALL3:NM_171999: nonsynonymo SALL3 exon2:c.C1492T:p.P us SNV 498S FBXL7:NM_0012783 17:exon3:c.C382T:p. nonsynonymo FBXL7 R128C,FBXL7:NM_0 us SNV 12304:exon3:c.C523 T:p.R175C DENND1A:NM_0209 DENND1 nonsynonymo 46:exon22:c.G2950A A us SNV :p.D984N LMAN2:NM_006816: nonsynonymo LMAN2 exon1:c.T137A:p.I46 us SNV K HOXB13:NM_00636 nonsynonymo HOXB13 1:exon2:c.G698A:p. us SNV R233Q DSCAM:NM_001271 534:exon26:c.G4550 nonsynonymo A:p.G1517E,DSCAM DSCAM us SNV :NM_001389:exon26 :c.G4550A:p.G1517 E SYPL2:NM_0010407 nonsynonymo SYPL2 09:exon4:c.C374T:p. us SNV S125F ARHGEF11:NM_014 784:exon32:c.C3161 ARHGEF1 nonsynonymo T:p.P1054L,ARHGE 1 us SNV F11:NM_198236:exo n33:c.C3281T:p.P10 94L AIM1L:NM_0010397 nonsynonymo AIM1L 75:exon2:c.G2410A: us SNV p.E804K WDR33:NM_018383 nonsynonymo WDR33 :exon18:c.T3161G:p. us SNV F1054C MAML1:NM_014757: nonsynonymo MAML1 exon2:c.C1283T:p.S us SNV 428F CPZ:NM_003652:ex on4:c.C788T:p.P263 L,CPZ:NM_0010144 nonsynonymo CPZ 47:exon5:c.C821T:p. us SNV P274L,CPZ:NM_001 014448:exon5:c.C41 0T:p.P137L PCDHB8:NM_01912 nonsynonymo PCDHB8 0:exon1:c.T1189A:p. us SNV S397T CSDE1:NM_001242 893:exon15:c.G1852 A:p.G618R,CSDE1: NM_001242892:exo n16:c.G1945A:p.G64 9R,CSDE1:NM_0071 58:exon16:c.G1852A nonsynonymo :p.G618R,CSDE1:N CSDE1 us SNV M_001007553:exon1 7:c.G1945A:p.G649 R,CSDE1:NM_00113 0523:exon17:c.G199 0A:p.G664R,CSDE1: NM_001242891:exo n18:c.G2083A:p.G69 5R Index Negative MO_1160 8 38275421 38275421 G A FGFR1 Index Negative MO_1160 5 1409936 1409936 C T SLC6A3 Index Negative MO_1160 6 32011574 32011574 C T TNXB Index Negative MO_1160 9 77377341 77377341 C T TRPM6 Index Negative MO_1160 5 140256039 140256039 C T PCDHA12 Index Negative MO_1160 6 75884906 75884906 C T COL12A1 Index Negative MO_1160 4 8037977 8037977 G A ABLIM2 Index Negative MO_1160 22 17589649 17589649 C T IL17RA Index Negative MO_1160 1 242161856 242161856 G A MAP1LC3 C Index Negative MO_1160 9086413 C T MUC16 Index Negative MO_1160 1 159802729 159802729 A G SLAMF8 Index Negative MO_1160 8 54147343 G A OPRK1 Index Negative MO_1160 5 140307417 140307417 G A PCDHAC 1 Index Negative MO_1160 3 137729117 137729117 G A CLDN18 Index Negative MO_1160 9 91793242 91793242 G A SHC3 Index Negative MO_1160 14 86089260 86089260 G A FLRT2 Index Negative MO_1160 13 103397862 103397862 G A CCDC168 19 9086413 54147343 FGFR1:NM_001174 066:exon10:c.C1252 T:p.R418C,FGFR1:N M_023105:exon10:c. C1252T:p.R418C,FG FR1:NM_023106:exo n10:c.C1246T:p.R41 6C,FGFR1:NM_0011 74063:exon11:c.C15 13T:p.R505C,FGFR1 nonsynonymo :NM_001174065:exo NA us SNV n11:c.C1513T:p.R50 5C,FGFR1:NM_0158 50:exon11:c.C1513T :p.R505C,FGFR1:N M_023110:exon11:c. C1519T:p.R507C,FG FR1:NM_001174064 :exon12:c.C1489T:p. R497C,FGFR1:NM_ 001174067:exon12:c .C1612T:p.R538C SLC6A3:NM_001044 nonsynonymo :exon10:c.G1298A:p. us SNV G433E TNXB:NM_032470:e xon4:c.G769A:p.V25 nonsynonymo 7I,TNXB:NM_019105 us SNV :exon35:c.G11476A: p.V3826I TRPM6:NM_001177 310:exon26:c.G4231 A:p.G1411R,TRPM6: nonsynonymo NM_001177311:exo us SNV n26:c.G4231A:p.G14 11R,TRPM6:NM_01 7662:exon26:c.G424 6A:p.G1416R PCDHA12:NM_0189 03:exon1:c.C982T:p. nonsynonymo P328S,PCDHA12:N us SNV M_031864:exon1:c. C982T:p.P328S COL12A1:NM_0043 nonsynonymo 70:exon13:c.G2558A us SNV :p.G853E ABLIM2:NM_001286 688:exon5:c.C217T: p.L73F,ABLIM2:NM_ 001130083:exon10:c .C946T:p.L316F,ABL IM2:NM_001130084: exon10:c.C946T:p.L 316F,ABLIM2:NM_0 01130085:exon10:c. nonsynonymo C946T:p.L316F,ABLI us SNV M2:NM_001130086: exon10:c.C946T:p.L 316F,ABLIM2:NM_0 01130087:exon10:c. C946T:p.L316F,ABLI M2:NM_001130088: exon10:c.C946T:p.L 316F,ABLIM2:NM_0 32432:exon10:c.C94 6T:p.L316F IL17RA:NM_001289 905:exon12:c.C1438 nonsynonymo T:p.P480S,IL17RA:N us SNV M_014339:exon13:c. C1540T:p.P514S MAP1LC3C:NM_001 nonsynonymo 004343:exon3:c.C18 us SNV 1T:p.P61S MUC16:NM_024690: nonsynonymo exon1:c.G5402A:p.G us SNV 1801E SLAMF8:NM_02012 nonsynonymo 5:exon3:c.A431G:p. us SNV K144R OPRK1:NM_000912: exon3:c.C586T:p.L1 nonsynonymo 96F,OPRK1:NM_001 us SNV 282904:exon4:c.C31 9T:p.L107F PCDHAC1:NM_0188 98:exon1:c.G940A:p. nonsynonymo D314N,PCDHAC1:N us SNV M_031882:exon1:c. G940A:p.D314N CLDN18:NM_01636 nonsynonymo 9:exon1:c.G50A:p.G us SNV 17E SHC3:NM_016848:e nonsynonymo xon1:c.C134T:p.P45 us SNV L FLRT2:NM_013231: nonsynonymo exon2:c.G1402A:p.E us SNV 468K CCDC168:NM_0011 nonsynonymo 46197:exon4:c.C518 us SNV 5T:p.P1729S NA NA 524 1 0.19% 439 246 35.91% NA NA NA 597 0 0% 433 246 36.23% NA NA NA 372 0 0% 415 247 37.31% NA NA NA 496 0 0% 430 248 36.58% NA NA NA 658 0 0% 518 248 32.38% NA NA NA 478 1 0.21% 428 249 36.78% NA NA NA 435 1 0.23% 366 250 40.58% NA NA NA 472 0 0% 399 250 38.52% NA NA NA 510 1 0.20% 439 250 36.28% NA NA NA 397 0 0% 173 251 59.20% NA NA NA 504 0 0% 434 251 36.64% NA NA NA 604 0 0% 487 251 34.01% NA NA NA 621 0 0% 509 253 33.20% NA NA NA 554 0 0% 661 254 27.76% NA NA NA 257 0 0% 94 255 73.07% NA NA NA 479 0 0% 418 256 37.98% NA NA NA 433 1 0.23% 195 258 56.95% Index Negative MO_1160 17 32483157 32483157 G A Index Negative MO_1160 6 33134337 33134337 G A Index Negative MO_1160 2 74274644 74274644 C A Index Negative MO_1160 5 140719925 140719925 G A ASIC2 PCDHGA2:NM_0189 15:exon1:c.G1387A: PCDHGA nonsynonymo p.E463K,PCDHGA2: 2 us SNV NM_032009:exon1:c .G1387A:p.E463K Negative MO_1160 2 85531030 85531030 C T TCF7L1 Index Negative MO_1160 4 2940975 2940975 C T NOP14 Index Negative MO_1160 17 61890681 61890681 G T DDX42 Index Negative MO_1160 9 107267328 107267328 C T OR13F1 Index Negative MO_1160 66359859 G A CCDC87 Index Negative MO_1160 1 168282220 168282220 C T TBX19 Index Negative MO_1160 1 G GRIK3 66359859 37307447 37307447 C NA NA 538 0 0% 488 259 34.67% ID=COSM1 165425,CO SM116542 6;OCCUR ENCE=1(la NA rge_intesti ne),2(centr al_nervous _system) NA 569 1 0.18% 526 259 32.99% TCF7L1:NM_031283 nonsynonymo :exon6:c.C671T:p.P2 us SNV 24L NOP14:NM_001291 978:exon17:c.G2414 nonsynonymo A:p.R805Q,NOP14: us SNV NM_003703:exon17: c.G2414A:p.R805Q DDX42:NM_203499: exon15:c.G1769T:p. nonsynonymo G590V,DDX42:NM_ us SNV 007372:exon16:c.G1 769T:p.G590V OR13F1:NM_001004 nonsynonymo 485:exon1:c.C785T: us SNV p.P262L CCDC87:NM_01821 nonsynonymo 9:exon1:c.C628T:p.P us SNV 210S TBX19:NM_005149: nonsynonymo exon8:c.C1327T:p.P us SNV 443S GRIK3:NM_000831: nonsynonymo exon10:c.G1420C:p. us SNV A474P NA NA 589 0 0% 472 260 35.52% rs201866 772 510 0 0% 460 261 36.20% NA NA 0.0003994 275 0 0% 100 265 72.60% NA NA NA 490 0 0% 418 266 38.89% NA NA NA 555 2 0.36% 466 266 36.34% NA NA NA 502 1 0.20% 410 268 39.53% DIDO1:NM_0011933 69:exon16:c.G4327T nonsynonymo :p.D1443Y,DIDO1:N NA us SNV M_033081:exon16:c. G4327T:p.D1443Y NA NA 583 0 0% 513 269 34.40% NA NA NA 538 0 0% 496 270 35.25% NA NA NA 601 0 0% 185 270 59.34% NA NA NA 366 0 0% 308 271 46.80% NA NA NA 528 0 0% 479 271 36.13% NA NA NA 768 0 0% 633 273 30.13% NA NA NA 646 0 0% 832 279 25.11% PLTP PLTP:NM_00124292 0:exon7:c.G565A:p. G189R,PLTP:NM_00 1242921:exon7:c.G5 nonsynonymo 86A:p.G196R,PLTP: NA us SNV NM_182676:exon8:c .G694A:p.G232R,PL TP:NM_006227:exon 9:c.G850A:p.G284R NA NA 448 0 0% 394 280 41.54% HSPG2 HSPG2:NM_001291 860:exon38:c.C4838 nonsynonymo T:p.P1613L,HSPG2: NA us SNV NM_005529:exon38: c.C4835T:p.P1612L NA NA 604 1 0.17% 515 280 35.22% 12163805 C T HIVEP1 Index Negative MO_1160 19 18882351 18882351 C T Index Negative MO_1160 3 118945756 118945756 G A Index Negative MO_1160 6 155451091 155451091 C T Index Negative MO_1160 7 104753448 104753448 C T Index Negative MO_1160 3 128200062 128200062 C T A 259 40.16% NA 12163805 22188514 G 386 NA 6 22188514 0% NA Negative MO_1160 1 0 263 38.56% Index Negative MO_1160 452 419 DIDO1 Index NA 0% A T NA 0 61512981 C 44533613 C 258 41.02% 511 61512981 44533613 371 NA 20 20 1 0.20% NA Negative MO_1160 Negative MO_1160 504 NA Index Index NA COL11A2:NM_0806 79:exon57:c.C4024T :p.P1342S,COL11A2 nonsynonymo :NM_080681:exon58 COL11A2 NA us SNV :c.C4087T:p.P1363S ,COL11A2:NM_0806 80:exon60:c.C4345T :p.P1449S TET3:NM_00128749 nonsynonymo TET3 1:exon3:c.C1600A:p. NA us SNV H534N Index 11 ID=COSM7 ASIC2:NM_001094:e nonsynonymo 05563;OC xon1:c.C395T:p.S13 NA us SNV CURENCE 2F =1(lung) HIVEP1:NM_002114 nonsynonymo :exon9:c.C7268T:p.P us SNV 2423L CRTC1:NM_015321: exon11:c.C1420T:p. nonsynonymo CRTC1 P474S,CRTC1:NM_ us SNV 001098482:exon12:c .C1468T:p.P490S B4GALT4:NM_0037 78:exon4:c.C386T:p. nonsynonymo B4GALT4 P129L,B4GALT4:NM us SNV _212543:exon5:c.C3 86T:p.P129L TIAM2:NM_012454:e nonsynonymo TIAM2 xon3:c.C734T:p.S24 us SNV 5F KMT2E:NM_018682: exon26:c.C5245T:p. nonsynonymo KMT2E L1749F,KMT2E:NM_ us SNV 182931:exon27:c.C5 245T:p.L1749F GATA2:NM_001145 662:exon6:c.G1201A :p.E401K,GATA2:N nonsynonymo M_032638:exon6:c. GATA2 us SNV G1243A:p.E415K,G ATA2:NM_00114566 1:exon7:c.G1243A:p. E415K Index Negative MO_1160 17 72436093 72436093 G A GPRC5C nonsynonymo us SNV Index Negative MO_1160 12 21919300 21919300 C T KCNJ8 nonsynonymo us SNV Index Negative MO_1160 3 128356700 128356700 G A RPN1 nonsynonymo us SNV Index Negative MO_1160 17 56355332 56355332 G A MPO nonsynonymo us SNV Index Negative MO_1160 7 1097338 1097338 G A GPR146 nonsynonymo us SNV Index Negative MO_1160 18 77895406 77895406 C T ADNP2 nonsynonymo us SNV Index Negative MO_1160 8 41554026 41554026 G A ANK1 nonsynonymo us SNV Index Negative MO_1160 14 24035231 24035231 C T AP1G2 nonsynonymo us SNV Index Negative MO_1160 19 56539262 56539262 G A NLRP5 nonsynonymo us SNV GPRC5C:NM_01865 3:exon2:c.G214A:p. G72S,GPRC5C:NM_ 022036:exon2:c.G31 3A:p.G105S KCNJ8:NM_004982: exon3:c.G632A:p.R2 11Q RPN1:NM_002950:e xon3:c.C575T:p.T19 2M MPO:NM_000250:ex on7:c.C1060T:p.R35 4C GPR146:NM_13844 5:exon1:c.G187A:p. D63N ADNP2:NM_014913: exon4:c.C2110T:p.P 704S ANK1:NM_000037:e xon26:c.C2815T:p.P 939S,ANK1:NM_020 475:exon26:c.C2815 T:p.P939S,ANK1:NM _020476:exon26:c.C 2815T:p.P939S,ANK 1:NM_020477:exon2 6:c.C2815T:p.P939S ,ANK1:NM_0011424 46:exon27:c.C2938T :p.P980S AP1G2:NM_0012824 75:exon4:c.G223A:p. D75N NLRP5:NM_153447: exon7:c.G1663A:p.G 555R NA NA NA 577 0 0% 458 281 38.02% NA NA NA 591 1 0.17% 194 282 59.24% NA NA NA 278 0 0% 234 284 54.83% NA NA NA 607 0 0% 512 286 35.84% NA NA NA 647 1 0.15% 158 288 64.57% NA NA NA 666 2 0.30% 496 291 36.98% NA NA NA 669 0 0% 528 291 35.53% NA NA NA 523 1 0.19% 479 293 37.95% NA NA NA 657 0 0% 555 293 34.55% NA NA 236 0 0% 95 294 75.58% 0.0007987 NA 546 0 0% 467 294 38.63% NA 612 0 0% 476 295 38.26% rs149662 320 660 0 0% 569 295 34.14% NA NA 529 1 0.19% 457 297 39.39% NA NA 656 0 0% 529 301 36.27% ID=COSM7 BRD4:NM_058243:e nonsynonymo 09707;OC xon16:c.C3299T:p.S NA us SNV CURENCE 1100F =1(lung) NA 535 1 0.19% 186 303 61.96% Index Negative MO_1160 9 130947924 130947924 G A CIZ1 CIZ1:NM_00113101 8:exon4:c.C418T:p.P 140S,CIZ1:NM_0012 57976:exon4:c.C187 T:p.P63S,CIZ1:NM_ 001131015:exon5:c. C490T:p.P164S,CIZ nonsynonymo 1:NM_001131016:ex NA us SNV on5:c.C490T:p.P164 S,CIZ1:NM_0011310 17:exon5:c.C490T:p. P164S,CIZ1:NM_001 257975:exon5:c.C58 0T:p.P194S,CIZ1:N M_012127:exon5:c. C490T:p.P164S Index Negative MO_1160 9 107289127 107289127 G A OR13C4 OR13C4:NM_00100 nonsynonymo 1919:exon1:c.C364T NA us SNV :p.R122C T PCDHGB5:NM_0189 25:exon1:c.C1604T: PCDHGB nonsynonymo p.S535L,PCDHGB5: NA 5 us SNV NM_032099:exon1:c .C1604T:p.S535L Index Negative MO_1160 5 140779298 140779298 C Index Negative MO_1160 Index Negative MO_1160 6 40400332 Index Negative MO_1160 12 95927833 Index Negative MO_1160 11 123814286 123814286 G 19 15350616 A OR6T1 40400332 T C LRFN2 95927833 G A USP44 15350616 G A BRD4 OR6T1:NM_0010051 nonsynonymo 87:exon1:c.C260T:p. NA us SNV T87M LRFN2:NM_020737: nonsynonymo exon2:c.A521G:p.N1 NA us SNV 74S USP44:NM_0010424 03:exon2:c.C200T:p. nonsynonymo P67L,USP44:NM_00 NA us SNV 1278393:exon2:c.C2 00T:p.P67L A LRRN2 nonsynonymo us SNV 19954967 C T NAV2 nonsynonymo us SNV 6683981 6683981 G A FBXO39 nonsynonymo us SNV 46931015 46931015 G A CELSR1 nonsynonymo us SNV Index Negative MO_1160 1 204588138 204588138 G Index Negative MO_1160 11 19954967 Index Negative MO_1160 17 Index Negative MO_1160 22 LRRN2:NM_201630: exon2:c.C983T:p.P3 28L,LRRN2:NM_006 338:exon3:c.C983T: p.P328L NAV2:NM_00111101 8:exon7:c.C985T:p.P 329S,NAV2:NM_145 117:exon7:c.C1177T :p.P393S,NAV2:NM_ 182964:exon7:c.C11 77T:p.P393S,NAV2: NM_001244963:exo n8:c.C1246T:p.P416 S FBXO39:NM_15323 0:exon2:c.G794A:p. G265E CELSR1:NM_01424 6:exon1:c.C2053T:p. P685S NA 0.0051917 NA NA NA 627 0 0% 512 303 37.18% NA NA NA 554 0 0% 204 307 60.08% NA NA NA 590 2 0.34% 207 307 59.73% NA NA NA 610 0 532 309 36.74% 0% Index Negative MO_1160 7 73246132 C G CLDN4 Index Negative MO_1160 3 122133814 122133814 C T WDR5B Index Negative MO_1160 15 73246132 75047310 75047310 C A Index Negative MO_1160 2 162273412 162273412 C T Index Negative MO_1160 2 167760246 167760246 A G Index Negative MO_1160 22 41918954 41918954 C T Index Negative MO_1160 11 617419 617419 C T Index Negative MO_1160 6 107956488 107956488 C T Index Negative MO_1160 3 131261456 131261456 C T Index Negative MO_1160 4 37446494 C T Index Negative MO_1160 9 136341434 136341434 G A Index Negative MO_1160 2 51254837 G A Index Negative MO_1160 6 127796737 127796737 G A Index Negative MO_1160 19 45976070 45976070 C T Index Negative MO_1160 16 3076385 3076385 G A Index Negative MO_1160 16 88498473 88498473 G A Index Negative MO_1160 4 30724516 30724516 C T Index Negative MO_1160 17 72522048 72522048 C T Index Index Negative MO_1160 Negative MO_1160 37446494 51254837 5 140736445 140736445 C 10 75559905 75559905 T CYP1A2 CLDN4:NM_001305: nonsynonymo exon1:c.C601G:p.R2 NA us SNV 01G WDR5B:NM_019069 nonsynonymo :exon1:c.G562A:p.D NA us SNV 188N NA NA 672 0 0% 615 312 33.66% NA NA 295 0 0% 280 313 52.78% ID=COSM3 CYP1A2:NM_00076 04356;OC nonsynonymo 1:exon7:c.C1432A:p. CURENCE NA us SNV Q478K =1(large_in testine) NA 694 0 0% 564 315 35.84% TBR1:NM_006593:e nonsynonymo TBR1 xon1:c.C491T:p.S16 us SNV 4F XIRP2:NM_0010798 10:exon2:c.A254G:p. N85S,XIRP2:NM_00 nonsynonymo XIRP2 1199143:exon2:c.A2 us SNV 54G:p.N85S,XIRP2: NM_152381:exon2:c .A254G:p.N85S ACO2:NM_001098:e nonsynonymo ACO2 xon10:c.C1259T:p.S us SNV 420F CDHR5:NM_031264: exon14:c.G1888A:p. E630K,CDHR5:NM_ nonsynonymo 001171968:exon15:c CDHR5 us SNV .G2452A:p.E818K,C DHR5:NM_021924:e xon15:c.G2470A:p.E 824K SOBP:NM_018013:e nonsynonymo SOBP xon6:c.C2440T:p.H8 us SNV 14Y CPNE4:NM_001289 112:exon15:c.G1538 A:p.G513E,CPNE4: nonsynonymo NM_130808:exon15: CPNE4 us SNV c.G1484A:p.G495E, CPNE4:NM_153429: exon16:c.G1538A:p. G513E NWD2:NM_0011449 nonsynonymo NWD2 90:exon7:c.C2884T: us SNV p.P962S SLC2A6:NM_001145 099:exon4:c.C487T: nonsynonymo SLC2A6 p.P163S,SLC2A6:N us SNV M_017585:exon4:c. C487T:p.P163S NRXN1:NM_001135 659:exon2:c.C575T: nonsynonymo NRXN1 p.S192L,NRXN1:NM us SNV _004801:exon2:c.C5 75T:p.S192L SOGA3:NM_001012 nonsynonymo SOGA3 279:exon6:c.C2434T us SNV :p.R812W FOSB:NM_0011141 71:exon3:c.C709T:p. nonsynonymo FOSB P237S,FOSB:NM_00 us SNV 6732:exon4:c.C817T :p.P273S THOC6:NM_001142 350:exon6:c.G382A: nonsynonymo THOC6 p.E128K,THOC6:NM us SNV _024339:exon6:c.G3 82A:p.E128K ZNF469:NM_001127 nonsynonymo ZNF469 464:exon2:c.G4511A us SNV :p.R1504Q PCDH7:NM_001173 523:exon1:c.C1472T :p.T491I,PCDH7:NM _002589:exon1:c.C1 nonsynonymo 472T:p.T491I,PCDH PCDH7 us SNV 7:NM_032456:exon1 :c.C1472T:p.T491I,P CDH7:NM_032457:e xon1:c.C1472T:p.T4 91I CD300LB:NM_17489 nonsynonymo CD300LB 2:exon2:c.G209A:p. us SNV G70E NA NA NA 707 1 0.14% 568 318 35.89% NA NA rs372136 511 672 0 0% 564 322 36.34% NA NA NA 743 1 0.13% 605 322 34.74% NA NA NA 748 1 0.13% 250 323 56.37% NA NA NA 626 0 0% 531 329 38.26% NA NA NA 375 0 0% 316 333 51.31% NA NA NA 716 1 0.14% 613 333 35.20% NA NA NA 292 0 0% 131 348 72.65% NA NA NA 693 0 0% 493 350 41.52% NA NA NA 680 0 0% 565 354 38.52% NA NA NA 762 0 0% 643 355 35.57% NA NA NA 855 0 0% 662 366 35.60% NA NA NA 726 0 0% 259 369 58.76% NA NA NA 1010 0 0% 662 371 35.91% NA NA NA 736 1 0.14% 636 380 37.40% T PCDHGA4:NM_0189 17:exon1:c.C1771T: PCDHGA nonsynonymo p.P591S,PCDHGA4: NA 4 us SNV NM_032053:exon1:c .C1771T:p.P591S NA NA 858 1 0.12% 704 384 35.29% G ZSWIM8:NM_00124 2487:exon22:c.T478 7G:p.L1596R,ZSWI nonsynonymo M8:NM_001242488: NA us SNV exon22:c.T4787G:p. L1596R,ZSWIM8:NM _015037:exon22:c.T 4802G:p.L1601R NA NA 784 0 236 392 62.42% ZSWIM8 0% 65941842 C T BPTF nonsynonymo us SNV Negative MO_1160 1 154960576 154960576 C T FLAD1 nonsynonymo us SNV Index Negative MO_1160 3 158520095 158520095 C T MFSD1 nonsynonymo us SNV Index Negative MO_1160 1 110766141 110766141 C T KCNC4 nonsynonymo us SNV Index Negative MO_1160 5 3599723 3599723 G A IRX1 nonsynonymo us SNV Index Negative MO_1160 6 35773719 35773719 C T LHFPL5 nonsynonymo us SNV Index Negative MO_1160 7 121651418 121651418 C T PTPRZ1 nonsynonymo us SNV Index Negative MO_1160 17 21318745 21318745 T A KCNJ12,K nonsynonymo CNJ18 us SNV Index Negative MO_1160 10 73567393 73567393 G A CDH23 Index Negative MO_1160 9 130674913 130674913 G A ST6GALN nonsynonymo AC4 us SNV Index Negative MO_1160 15 58833983 58833983 G A LIPC splicing Index Negative MO_1160 2 47702410 47702410 G A MSH2 splicing Index Negative MO_1160 15 88524456 88524456 C T NTRK3 splicing Index Negative MO_1160 2 100628034 100628034 C T AFF3 splicing Index Negative MO_1160 22 28494902 28494902 C T TTC28 splicing Index Negative MO_1160 14 21882578 21882578 C A CHD8 splicing Index Negative MO_1160 15 65888070 65888070 C T VWA9 splicing Index Negative MO_1160 4 80952847 80952847 C T ANTXR2 splicing Index Negative MO_1160 3 48681111 48681111 C T CELSR3 splicing Index Negative MO_1160 107413947 107413947 C T COL4A6 splicing Index Negative MO_1160 20 43837372 43837372 G A SEMG1 splicing Index Negative MO_1160 12 7635601 7635601 C T CD163 splicing Index Negative MO_1160 11 47497074 47497074 C T CELF1 splicing Index Negative MO_1160 Index 17 X 65941842 nonsynonymo us SNV BPTF:NM_182641:e xon21:c.C7018T:p.P 2340S,BPTF:NM_00 4459:exon23:c.C739 6T:p.P2466S FLAD1:NM_0011848 92:exon3:c.C71T:p.P 24L MFSD1:NM_001167 903:exon1:c.C301T: p.L101F,MFSD1:NM _022736:exon1:c.C3 01T:p.L101F KCNC4:NM_001039 574:exon2:c.C1234T :p.P412S,KCNC4:N M_004978:exon2:c. C1234T:p.P412S IRX1:NM_024337:ex on2:c.G661A:p.E221 K LHFPL5:NM_182548 :exon1:c.C272T:p.S9 1F PTPRZ1:NM_00285 1:exon12:c.C2318T: p.P773L KCNJ18:NM_001194 958:exon3:c.T91A:p. F31I,KCNJ12:NM_02 1012:exon3:c.T91A: p.F31I CDH23:NM_001171 933:exon12:c.G1709 A:p.S570N,CDH23:N M_001171934:exon1 2:c.G1709A:p.S570N ,CDH23:NM_022124 :exon57:c.G8429A:p. S2810N ST6GALNAC4:NM_1 75039:exon4:c.C245 T:p.S82F NM_000236:exon3:c .274-1G>A NM_000251:exon12: c.2005+1G>A,NM_0 01258281:exon13:c. 1807+1G>A NM_001007156:exo n16:c.1720+1G>A NM_001025108:exo n4:c.54-1G>A NM_001145418:exo n11:c.3547+1G>A NM_001170629:exo n9:c.20251G>T,NM_020920:e xon10:c.1188-1G>T NM_001207058:exo n8:c.790+1G>A,NM_ 001207059:exon7:c. 670+1G>A,NM_0011 36043:exon8:c.604+ 1G>A NM_001286780:exo n11:c.5661G>A,NM_058172:e xon11:c.7971G>A,NM_00128678 1:exon11:c.5661G>A,NM_00114579 4:exon11:c.7971G>A NM_001407:exon29: c.8166-1G>A NM_001847:exon36: c.33891G>A,NM_00128776 0:exon36:c.33861G>A,NM_033641:e xon36:c.33861G>A,NM_00128775 9:exon36:c.33861G>A,NM_00128775 8:exon37:c.34371G>A NM_003007:exon2:c .1433+1G>A NM_004244:exon14: c.30891G>A,NM_203416:e xon14:c.3089-1G>A NM_006560:exon12: c.9921G>A,NM_00117264 0:exon11:c.10011G>A,NM_00117263 9:exon14:c.10821G>A,NM_00102559 6:exon11:c.10041G>A,NM_198700:e xon12:c.995-1G>A NA NA NA 900 0 0% 673 403 37.45% NA NA NA 868 0 0% 637 404 38.81% NA NA NA 395 0 0% 154 408 72.60% NA NA NA 1002 2 0.20% 732 408 35.79% NA NA NA 1067 1 0.09% 717 411 36.44% NA NA NA 904 0 0% 706 445 38.66% NA NA NA 1095 0 0% 877 463 34.55% NA NA NA 2714 0 0% 1519 463 23.36% NA NA NA 1197 1 0.08% 336 531 61.25% NA NA NA 827 0 0% 273 824 75.11% NA NA NA 288 0 0% 107 161 60.07% NA NA NA 65 0 0% 75 37 33.04% NA NA NA 28 0 0% 41 20 32.79% NA NA NA 114 0 0% 145 83 36.40% NA NA NA 241 0 0% 212 120 36.14% NA NA NA 48 0 0% 67 41 37.96% NA NA NA 131 0 0% 133 60 31.09% NA NA NA 65 0 0% 31 29 48.33% 0.0001997 NA 306 0 0% 100 148 59.68% NA NA NA NA 110 0 0% 43 172 80% NA NA NA 140 0 0% 147 80 35.24% NA NA NA 112 0 0% 45 75 62.50% NA NA NA 150 0 0% 66 85 56.29% Index Negative MO_1160 10 124390476 124390476 G A DMBT1 splicing Index Negative MO_1160 1 1255911 1255911 T A CPSF3L splicing Index Negative MO_1160 20 61917717 61917717 G A ARFGAP1 splicing Index Negative MO_1160 10 1230980 1230980 C T ADARB2 splicing Index Negative MO_1160 1 45469609 45469609 C T HECTD3 splicing Index Negative MO_1160 8 70588909 70588909 C T SLCO5A1 splicing Index Negative MO_1160 19 1369593 1369593 A C MUM1 Index Negative MO_1160 7 117375322 117375322 C T CTTNBP2 splicing Index Negative MO_1160 8 35608099 G A UNC5D Index Negative MO_1160 1 218036115 218036115 G A SPATA17 splicing Index Negative MO_1160 2 165802101 165802101 A T SLC38A1 splicing 1 35608099 splicing splicing Index Negative MO_1160 17 6606458 6606458 C T SLC13A5 splicing Index Negative MO_1160 18 56980005 56980005 C T CPLX4 Index Negative MO_1160 5 1244489 1244489 G A SLC6A18 splicing Index Negative MO_1160 6 70065746 70065746 C T BAI3 stopgain Index Negative MO_1160 2 159530220 159530220 C T PKP4 stopgain Index Negative MO_1160 17 28268839 28268839 G T EFCAB5 stopgain Index Negative MO_1160 15 65623053 65623053 G A IGDCC3 stopgain Index Negative MO_1160 4 1017500 1017500 C T FGFRL1 stopgain Index Negative MO_1160 1 52282035 52282035 C T NRD1 stopgain Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 2 12 X 32396374 32396374 C T splicing SLC30A6 stopgain 81046575 81046575 G A PTPRQ stopgain 18944610 18944610 G A PHKA2 stopgain NM_007329:exon46: c.56391G>A,NM_004406:e xon33:c.37551G>A,NM_017579:e xon45:c.5609-1G>A NM_017871:exon4:c .1272A>T,NM_00125646 0:exon5:c.402A>T,NM_00125645 6:exon6:c.145-2A>T NM_018209:exon12: c.8351G>A,NM_00128148 2:exon13:c.10741G>A,NM_00128148 4:exon11:c.4961G>A NM_018702:exon10: c.1865-1G>A NM_024602:exon20: c.2348-1G>A NM_030958:exon10: c.20251G>A,NM_00114600 9:exon8:c.18601G>A NM_032853:exon11: c.1502-2A>C NM_033427:exon16: c.3688+1G>A NM_080872:exon13: c.1936-1G>A NM_138796:exon10: c.1006-1G>A NM_173512:exon4:c .196+2T>A,NM_001 199148:exon4:c.196 +2T>A NA NA NA 218 0 0% 88 113 56.22% NA NA NA 201 0 0% 188 123 39.55% NA NA NA 571 0 0% 455 291 39.01% NA NA NA 120 0 0% 41 58 58.59% NA NA NA 640 1 0.16% 545 332 37.86% NA NA NA 86 0 0% 79 43 35.25% NA NA NA 127 0 0% 48 77 61.60% NA NA NA 120 0 0% 99 77 43.75% NA NA NA 408 0 0% 348 184 34.59% NA NA NA 36 0 0% 43 27 38.57% NA NA NA 55 0 0% 58 23 28.40% NM_177550:exon6:c .5481G>A,NM_00128450 9:exon6:c.497NA 1G>A,NM_00114383 8:exon6:c.5481G>A,NM_00128451 0:exon5:c.419-1G>A NA NA 200 0 0% 66 108 62.07% NA NA NA 78 0 0% 100 42 29.58% NA NA NA 239 0 0% 206 133 39.23% NA NA NA 26 0 0% 30 12 28.57% NA NA NA 21 0 0% 12 13 NA NA NA 48 0 0% 63 20 24.10% NA NA NA 55 0 0% 49 27 35.53% NA NA NA 60 0 0% 42 30 41.67% NA NA NA 68 0 0% 88 35 28.46% ID=COSM1 407747;OC CURENCE NA =1(large_in testine) NA 76 1 1.30% 75 35 31.82% NA NA 46 0 0% 53 36 40.45% NA NA 44 0 0% 21 47 69.12% NM_181654:exon3:c .168-1G>A NM_182632:exon10: c.1496+1G>A BAI3:NM_001704:ex on28:c.C3589T:p.R1 197X PKP4:NM_00100547 6:exon18:c.C2956T: p.Q986X,PKP4:NM_ 003628:exon18:c.C2 956T:p.Q986X EFCAB5:NM_19852 9:exon1:c.G25T:p.E 9X IGDCC3:NM_004884 :exon10:c.C1588T:p. R530X FGFRL1:NM_02192 3:exon3:c.C424T:p. Q142X,FGFRL1:NM _001004356:exon4:c .C424T:p.Q142X,FG FRL1:NM_00100435 8:exon4:c.C424T:p. Q142X NRD1:NM_0011016 62:exon11:c.G1388A :p.W463X,NRD1:NM _001242361:exon13: c.G1196A:p.W399X, NRD1:NM_002525:e xon13:c.G1592A:p. W531X SLC30A6:NM_00119 3513:exon2:c.C22T: p.R8X,SLC30A6:NM _001193514:exon2:c .C22T:p.R8X,SLC30 A6:NM_017964:exon 2:c.C22T:p.R8X PTPRQ:NM_001145 026:exon35:c.G5561 NA A:p.W1854X PHKA2:NM_000292: exon14:c.C1420T:p. NA Q474X 52% Index Negative MO_1160 5 161300157 161300157 G A GABRA1 stopgain Index Negative MO_1160 3 130688229 130688229 C T ATP2C1 stopgain Index Negative MO_1160 2 203834709 203834709 A T CARF stopgain Index Negative MO_1160 2 A GKN1 stopgain Index Negative MO_1160 Index Index Index A SYNJ1 stopgain Negative MO_1160 1 242287820 242287820 T A PLD5 stopgain Negative MO_1160 10 121184583 121184583 G A GRK5 stopgain 6 34045776 69207912 G 34045776 G Negative MO_1160 21 69207912 90578770 24006634 90578770 A T CASP8AP stopgain 2 Index Negative MO_1160 3 24006634 T A NR1D2 stopgain Index Negative MO_1160 2 168100643 168100643 G A XIRP2 stopgain Index Negative MO_1160 5 98236699 98236699 A C CHD1 stopgain Index Negative MO_1160 13 49050852 49050852 C T RB1 stopgain GABRA1:NM_00112 7648:exon4:c.G290A :p.W97X,GABRA1:N M_001127644:exon5 :c.G290A:p.W97X,G ABRA1:NM_001127 645:exon5:c.G290A: p.W97X,GABRA1:N M_000806:exon6:c. G290A:p.W97X,GAB RA1:NM_001127643 :exon6:c.G290A:p.W 97X ATP2C1:NM_001199 182:exon15:c.C1387 T:p.R463X,ATP2C1: NM_001001486:exo n16:c.C1402T:p.R46 8X,ATP2C1:NM_001 001487:exon16:c.C1 402T:p.R468X,ATP2 C1:NM_001199180:e xon16:c.C1504T:p.R 502X,ATP2C1:NM_0 01199181:exon16:c. C1504T:p.R502X,AT P2C1:NM_00119918 3:exon16:c.C1354T: p.R452X,ATP2C1:N M_001199184:exon1 6:c.C1354T:p.R452X ,ATP2C1:NM_00119 9185:exon16:c.C140 2T:p.R468X,ATP2C1 :NM_014382:exon16 :c.C1402T:p.R468X, ATP2C1:NM_001001 485:exon17:c.C1402 T:p.R468X,ATP2C1: NM_001199179:exo n17:c.C1402T:p.R46 8X CARF:NM_0012829 12:exon8:c.A757T:p. K253X,CARF:NM_00 1282910:exon9:c.A7 93T:p.K265X,CARF: NM_001104586:exo n10:c.A1021T:p.K34 1X,CARF:NM_00128 2911:exon10:c.A793 T:p.K265X,CARF:N M_024744:exon11:c. A1021T:p.K341X GKN1:NM_019617:e xon6:c.G557A:p.W1 86X SYNJ1:NM_0011603 06:exon13:c.C1585T :p.R529X,SYNJ1:NM _001160302:exon14: c.C1600T:p.R534X,S YNJ1:NM_003895:ex on14:c.C1717T:p.R5 73X,SYNJ1:NM_203 446:exon14:c.C1717 T:p.R573X PLD5:NM_00119581 2:exon5:c.A259T:p.K 87X,PLD5:NM_0011 95811:exon6:c.A697 T:p.K233X,PLD5:NM _152666:exon7:c.A8 83T:p.K295X GRK5:NM_005308:e xon6:c.G519A:p.W1 73X NA NA NA 75 0 0% 85 47 35.61% NA NA rs137853 013 85 0 0% 123 47 27.65% NA NA NA 78 0 0% 99 49 33.11% NA NA NA 110 0 0% 104 52 33.33% ID=COSM1 85797;OC CURENCE NA =2(large_in testine) NA 99 0 0% 93 55 37.16% NA NA NA 79 0 0% 104 58 35.80% NA NA NA 91 0 0% 34 58 63.04% CASP8AP2:NM_001 137667:exon8:c.A57 61T:p.K1921X,CASP 8AP2:NM_00113766 NA 8:exon8:c.A5761T:p. K1921X,CASP8AP2: NM_012115:exon8:c .A5761T:p.K1921X NA NA 86 0 0% 83 59 41.55% NA NA NA 92 0 0% 31 59 65.56% NA NA NA 119 0 0% 136 59 30.26% NA NA NA 136 0 0% 124 59 32.24% NA NA NA 111 0 0% 44 60 57.69% NR1D2:NM_001145 425:exon6:c.T1088A :p.L363X,NR1D2:NM _005126:exon6:c.T1 313A:p.L438X XIRP2:NM_0011991 44:exon7:c.G2075A: p.W692X,XIRP2:NM _152381:exon9:c.G2 741A:p.W914X CHD1:NM_001270:e xon6:c.T675G:p.Y22 5X RB1:NM_000321:ex on25:c.C2536T:p.Q8 46X Index Negative MO_1160 19 48523115 48523115 G A ELSPBP1 stopgain Index Negative MO_1160 5 41055889 41055889 G A MROH2B stopgain Index Negative MO_1160 6 30920210 30920210 G A DPCR1 stopgain Index Negative MO_1160 2 163128888 163128888 G A IFIH1 stopgain Index Negative MO_1160 T SRRM5 stopgain Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index Index Index 19 11 X 44117516 46678712 44117516 C 46678712 C A ATG13 stopgain 130420011 130420011 G A IGSF1 6 138635001 138635001 C T KIAA1244 stopgain 58318215 C T PHACTR3 stopgain Negative MO_1160 3 195295926 195295926 G A APOD Negative MO_1160 1 114454751 114454751 C T DCLRE1B stopgain Negative MO_1160 20 6 58318215 stopgain 56347541 56347541 C T DST stopgain stopgain Index Negative MO_1160 16 81737605 81737605 T A CMIP stopgain Index Negative MO_1160 11 5664554 5664554 G A TRIM34,T RIM6stopgain TRIM34 Index Negative MO_1160 7 138758715 138758715 G A ZC3HAV1 stopgain ELSPBP1:NM_0221 42:exon5:c.G495A:p. W165X MROH2B:NM_17348 9:exon10:c.C988T:p. R330X DPCR1:NM_080870: exon2:c.G3969A:p. W1323X IFIH1:NM_022168:ex on13:c.C2464T:p.R8 22X SRRM5:NM_001145 641:exon1:c.C1243T :p.R415X NA NA NA 83 0 0% 101 62 38.04% NA NA NA 92 0 0% 117 64 35.36% NA NA NA 112 0 0% 88 64 42.11% NA NA NA 111 0 0% 109 65 37.36% NA NA NA 100 0 0% 117 68 36.76% ATG13:NM_0012051 22:exon7:c.C330A:p. Y110X,ATG13:NM_0 01205119:exon8:c.C 567A:p.Y189X,ATG1 3:NM_001205120:ex on8:c.C567A:p.Y189 NA X,ATG13:NM_00114 2673:exon9:c.C567A :p.Y189X,ATG13:NM _001205121:exon9:c .C567A:p.Y189X,AT G13:NM_014741:exo n9:c.C567A:p.Y189X NA NA 132 0 0% 55 68 55.28% NA NA NA 58 0 0% 31 69 NA NA NA 129 0 0% 134 73 35.27% ID=COSM1 028583;OC CURENCE NA =1(endome trium) NA 123 0 0% 124 74 37.37% NA NA NA 161 0 0% 152 76 33.33% NA NA NA 120 0 0% 156 79 33.62% DST:NM_015548:ex on70:c.G13473A:p. W4491X,DST:NM_1 83380:exon80:c.G14 451A:p.W4817X,DS NA T:NM_001144770:ex on81:c.G14571A:p. W4857X,DST:NM_0 01144769:exon83:c. G14985A:p.W4995X NA NA 167 0 0% 254 80 23.95% NA NA 163 0 0% 59 82 58.16% NA NA 151 0 0% 79 84 51.53% NA NA 183 0 0% 165 IGSF1:NM_0011709 62:exon3:c.C82T:p. Q28X,IGSF1:NM_00 1170961:exon4:c.C1 09T:p.Q37X,IGSF1: NM_001170963:exo n4:c.C109T:p.Q37X,I GSF1:NM_001555:e xon4:c.C109T:p.Q37 X,IGSF1:NM_20583 3:exon4:c.C109T:p. Q37X KIAA1244:NM_0203 40:exon26:c.C4270T :p.R1424X PHACTR3:NM_0011 99505:exon2:c.C163 T:p.R55X,PHACTR3: NM_001199506:exo n2:c.C49T:p.R17X,P HACTR3:NM_00128 1507:exon2:c.C49T: p.R17X,PHACTR3:N M_080672:exon2:c. C172T:p.R58X,PHA CTR3:NM_183244:e xon2:c.C49T:p.R17X ,PHACTR3:NM_183 246:exon2:c.C49T:p. R17X APOD:NM_001647:e xon5:c.C415T:p.Q13 9X DCLRE1B:NM_0228 36:exon4:c.C1537T: p.Q513X CMIP:NM_030629:e xon18:c.T1724A:p.L 575X,CMIP:NM_198 NA 390:exon18:c.T2006 A:p.L669X TRIM34:NM_001003 827:exon8:c.G1082A :p.W361X,TRIM34:N M_021616:exon8:c. G1082A:p.W361X,T NA RIM6TRIM34:NM_001003 819:exon14:c.G2144 A:p.W715X ZC3HAV1:NM_0201 19:exon7:c.C1759T: p.R587X,ZC3HAV1: NA NM_024625:exon7:c .C1759T:p.R587X 85 69% 34% Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 2 179569034 179569034 C T TTN stopgain TTN:NM_133378:ex on103:c.G26331A:p. W8777X,TTN:NM_0 01256850:exon104:c NA .G29112A:p.W9704X ,TTN:NM_00126755 0:exon106:c.G30063 A:p.W10021X NA NA 197 0 0% 171 86 33.46% NA NA 151 1 0.66% 169 87 33.98% 40277866 G A RAB5C stopgain RAB5C:NM_004583: exon6:c.C586T:p.R1 96X,RAB5C:NM_001 252039:exon7:c.C68 NA 5T:p.R229X,RAB5C: NM_201434:exon7:c .C586T:p.R196X 1 201186481 201186481 G A IGFN1 stopgain IGFN1:NM_0011645 86:exon17:c.G9662A NA :p.W3221X NA NA 123 0 0% 157 88 35.92% CDC42SE stopgain 2 CDC42SE2:NM_001 038702:exon4:c.C16 9T:p.Q57X,CDC42S NA E2:NM_020240:exon 5:c.C169T:p.Q57X NA NA 159 0 0% 189 89 32.01% NA NA NA 156 0 0% 151 91 37.60% NA NA rs200423 360 173 0 0% 138 91 39.74% NA NA NA 174 0 0% 182 91 33.33% NA NA NA 146 0 0% 125 92 42.40% NA NA NA 153 0 0% 167 94 36.02% NA NA NA 196 0 0% 136 98 41.88% NA NA NA 267 0 0% 87 102 53.97% NA NA NA 237 0 0% 215 103 32.39% NA NA NA 157 0 0% 66 106 61.63% NA NA NA 211 0 0% 181 111 38.01% NA NA NA 105 0 0% 43 119 73.46% NA NA NA 238 0 0% 251 120 32.35% ID=COSM3 93127;OC NA CURENCE =1(lung) NA 266 0 0% 254 125 32.98% NA NA NA 194 1 0.51% 201 129 39.09% NA NA NA 329 0 255 129 33.59% 17 40277866 5 130726698 130726698 C Index Negative MO_1160 6 131602756 131602756 C Index Negative MO_1160 15 81633741 Index Negative MO_1160 8 41906330 Index T T AKAP7 stopgain 81633741 G A TMC3 stopgain 41906330 T A KAT6A stopgain Negative MO_1160 1 207643418 207643418 G A CR2 stopgain Index Negative MO_1160 1 154575036 154575036 G A ADAR stopgain Index Negative MO_1160 5 140175988 140175988 G A PCDHA2 stopgain Index Negative MO_1160 16 77229526 77229526 C T MON1B stopgain Index Negative MO_1160 18 8720387 8720387 G T MTCL1 stopgain Index Negative MO_1160 13 86370103 86370103 G A SLITRK6 stopgain Index Negative MO_1160 7 151262926 151262926 C A PRKAG2 stopgain Index Negative MO_1160 9 139410526 139410526 G A NOTCH1 stopgain Index Negative MO_1160 4 T KLB 39439361 39439361 G stopgain Index Negative MO_1160 22 21331041 21331041 C T AIFM3 stopgain Index Negative MO_1160 19 35260391 35260391 G A ZNF599 stopgain Index Negative MO_1160 2 232328015 232328015 G A NCL stopgain AKAP7:NM_004842: exon2:c.C136T:p.Q4 6X,AKAP7:NM_1386 33:exon3:c.C205T:p. Q69X,AKAP7:NM_0 16377:exon8:c.C937 T:p.Q313X TMC3:NM_0010805 32:exon16:c.C1834T :p.R612X KAT6A:NM_006766: exon2:c.A166T:p.K5 6X,KAT6A:NM_0010 99412:exon3:c.A166 T:p.K56X,KAT6A:NM _001099413:exon3:c .A166T:p.K56X CR2:NM_001006658 :exon6:c.G1196A:p. W399X,CR2:NM_00 1877:exon6:c.G1196 A:p.W399X ADAR:NM_001111:e xon2:c.C82T:p.Q28X ,ADAR:NM_015840: exon2:c.C82T:p.Q28 X,ADAR:NM_015841 :exon2:c.C82T:p.Q2 8X PCDHA2:NM_01890 5:exon1:c.G1439A:p. W480X,PCDHA2:NM _031495:exon1:c.G1 439A:p.W480X,PCD HA2:NM_031496:ex on1:c.G1439A:p.W4 80X MON1B:NM_001286 640:exon3:c.C952T: p.R318X,MON1B:N M_001286639:exon4 :c.C1063T:p.R355X, MON1B:NM_014940 :exon5:c.C1390T:p.R 464X MTCL1:NM_015210: exon4:c.G250T:p.E8 4X SLITRK6:NM_03222 9:exon2:c.C541T:p.R 181X PRKAG2:NM_02442 9:exon8:c.G556T:p. E186X,PRKAG2:NM _001040633:exon12: c.G1147T:p.E383X,P RKAG2:NM_016203: exon12:c.G1279T:p. E427X NOTCH1:NM_01761 7:exon10:c.C1576T: p.Q526X KLB:NM_175737:exo n3:c.G1351T:p.E451 X AIFM3:NM_0010180 60:exon12:c.C1132T :p.R378X,AIFM3:NM _001146288:exon12: c.C1150T:p.R384X,A IFM3:NM_144704:ex on12:c.C1132T:p.R3 78X ZNF599:NM_001007 248:exon2:c.C88T:p. Q30X NCL:NM_005381:ex on2:c.C31T:p.Q11X 0% Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index Negative MO_1160 Index X 34962351 34962351 G A FAM47B stopgain 12 55368314 55368314 C T TESPA1 stopgain 15 74572342 74572342 G A CCDC33 stopgain 19 38376109 C T WDR87 stopgain Negative MO_1160 2 210558353 210558353 C T MAP2 stopgain Index Negative MO_1160 11 118344107 118344107 C T KMT2A stopgain Index Negative MO_1160 4 4276292 4276292 G A LYAR stopgain Index Negative MO_1160 6 41895126 41895126 C T BYSL stopgain Index Negative MO_1160 2 233899399 233899399 C T NEU2 stopgain Index Negative MO_1160 12 50571548 50571548 T A LIMA1 stopgain Index Negative MO_1160 20 30904432 30904432 A T KIF3B stopgain Index Negative MO_1160 129156886 129156886 A T BCORL1 stopgain Index Negative MO_1160 8 62212672 62212672 C T CLVS1 stopgain Index Negative MO_1160 2 75347733 75347733 C T TACR1 stopgain Index Negative MO_1160 17 72759644 72759644 C T SLC9A3R stopgain 1 X 38376109 FAM47B:NM_15263 1:exon1:c.G1403A:p. NA W468X TESPA1:NM_00109 8815:exon2:c.G33A: p.W11X,TESPA1:N NA M_001136030:exon2 :c.G33A:p.W11X CCDC33:NM_02505 5:exon8:c.G798A:p. NA W266X NA NA 111 0 0% 43 130 75.14% NA NA 219 0 0% 200 131 39.58% NA NA 203 0 0% 187 132 41.38% NA NA 236 0 0% 219 133 37.78% NA NA NA 252 0 0% 295 135 31.40% NA NA NA 235 0 0% 239 136 36.27% NA NA NA 249 0 0% 215 136 38.75% NA NA NA 312 0 0% 253 144 36.27% NA NA NA 297 0 0% 280 148 34.58% NA NA NA 293 1 0.34% 247 149 37.63% NA NA NA 243 0 0% 241 153 38.83% NA NA NA 93 0 0% 57 158 73.49% NA NA NA 242 0 0% 240 158 39.70% NA NA NA 370 0 0% 334 170 33.73% NA NA NA 263 0 0% 231 172 42.68% NA NA 324 0 0% 298 172 36.60% WDR87:NM_001291 088:exon6:c.G8202A :p.W2734X,WDR87: NA NM_031951:exon6:c .G8085A:p.W2695X MAP2:NM_002374:e xon7:c.C1459T:p.Q4 87X KMT2A:NM_001197 104:exon3:c.C2233T :p.R745X,KMT2A:N M_005933:exon3:c. C2233T:p.R745X LYAR:NM_00114572 5:exon7:c.C634T:p. Q212X,LYAR:NM_01 7816:exon7:c.C634T :p.Q212X BYSL:NM_004053:e xon2:c.C283T:p.Q95 X NEU2:NM_005383:e xon2:c.C775T:p.Q25 9X LIMA1:NM_0012437 75:exon5:c.A673T:p. K225X,LIMA1:NM_0 01113547:exon8:c.A 1102T:p.K368X,LIM A1:NM_001113546:e xon11:c.A1582T:p.K 528X,LIMA1:NM_01 6357:exon11:c.A157 9T:p.K527X KIF3B:NM_004798:e xon4:c.A1609T:p.K5 37X BCORL1:NM_02194 6:exon5:c.A3622T:p. K1208X CLVS1:NM_173519: exon2:c.C286T:p.Q9 6X TACR1:NM_001058: exon2:c.G551A:p.W 184X,TACR1:NM_01 5727:exon2:c.G551A :p.W184X SLC9A3R1:NM_004 252:exon3:c.C742T: p.Q248X Index Negative MO_1160 19 51628537 51628537 C A SIGLEC9 stopgain SIGLEC9:NM_00119 8558:exon1:c.C306A :p.C102X,SIGLEC9: NA NM_014441:exon1:c .C306A:p.C102X Index Negative MO_1160 3 97806171 97806171 G A OR5AC2 stopgain OR5AC2:NM_05410 6:exon1:c.G155A:p. NA W52X NA NA 330 0 0% 499 174 25.85% NA NA 417 0 0% 369 187 33.63% NA NA 344 0 0% 343 193 36.01% Index Negative MO_1160 6 44223139 44223139 G C SLC35B2 stopgain SLC35B2:NM_00128 6519:exon2:c.C204G :p.Y68X,SLC35B2:N M_001286513:exon3 :c.C324G:p.Y108X,S LC35B2:NM_001286 517:exon3:c.C288G: p.Y96X,SLC35B2:N M_001286509:exon4 :c.C588G:p.Y196X,S LC35B2:NM_001286 510:exon4:c.C588G: NA p.Y196X,SLC35B2:N M_001286511:exon4 :c.C456G:p.Y152X,S LC35B2:NM_001286 512:exon4:c.C456G: p.Y152X,SLC35B2:N M_001286520:exon4 :c.C204G:p.Y68X,SL C35B2:NM_178148: exon4:c.C603G:p.Y2 01X Index Negative MO_1160 21 30380266 30380266 G A RWDD2B stopgain RWDD2B:NM_01694 0:exon4:c.C541T:p. NA Q181X Index Negative MO_1160 19 39076607 39076607 C T RYR1 stopgain RYR1:NM_00104272 3:exon102:c.C14818 T:p.R4940X,RYR1:N NA M_000540:exon103: c.C14833T:p.R4945 X NA NA 336 1 0.30% 297 200 40.24% NA 388 0 0% 323 205 38.83% Index Negative MO_1160 1 169510973 169510973 G A F5 stopgain ID=COSM1 F5:NM_000130:exon 499336;OC 13:c.C3355T:p.Q111 NA CURENCE 9X =1(lung) Index Negative MO_1160 1 A CHD5 stopgain CHD5:NM_015557:e xon19:c.C2935T:p.Q NA 979X NA NA 453 0 0% 363 229 38.68% CCDC108 stopgain CCDC108:NM_0012 78296:exon12:c.G18 69A:p.W623X,CCDC 108:NM_001278295: NA exon13:c.G2031A:p. W677X,CCDC108:N M_194302:exon13:c. G2064A:p.W688X NA NA 543 1 0.18% 440 237 35.01% NA NA NA 193 0 0% 88 240 73.17% NA NA NA 625 0 0% 205 277 57.47% NA NA NA 553 0 0% 467 289 38.23% NA NA NA 136 0 0% 168 93 35.63% NA NA NA 166 0 0% 69 109 61.24% NA NA NA NA NA NA 336 129 0 0 0% 0% 124 109 178 58.94% 70 39.11% UNKNOWN NA NA NA 908 1 0.11% 764 429 35.96% UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN NA NA NA NA NA NA NA NA ID=COSM3 629101;OC CURENCE =1(urinary_ tract) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 702 189 20 51 499 65 74 81 0 0 0 0 0 0 0 0 0% 0% 0% 0% 0% 0% 0% 0% 219 140 19 62 444 70 29 74 601 80 11 16 29 35 40 45 73.29% 36.36% 36.67% 20.51% 6.13% 33.33% 57.97% 37.82% NA NA 294 0 0% 454 50 9.92% 92 0 0% 52 52 50% 94 0 0% 117 54 31.58% Index Negative MO_1160 6194855 6194855 G 2 219892519 219892519 C T Index Negative MO_1160 9 79321213 79321213 G A PRUNE2 Index Negative MO_1160 19 18120687 18120687 C T ARRDC2 stopgain Index Negative MO_1160 5 140783261 140783261 C T PCDHGA stopgain 9 Index Negative MO_1160 6 57055259 57055259 T G RAB23 stoploss Index Negative MO_1160 7 33644836 33644836 T G BBS9 stoploss Index Index Negative MO_1160 Negative MO_1160 19 1 14000182 23281861 Index Negative MO_1160 7 75617466 Index Index Index Index Index Index Index Index Negative Negative Negative Negative Negative Negative Negative Negative Index Negative MO_1160 6 57512667 57512667 G A PRIM2 unknown UNKNOWN Index Negative MO_1160 11 13399894 13399894 G A ARNTL unknown UNKNOWN NA NA Index Negative MO_1160 12 40938154 40938154 G A MUC19 unknown UNKNOWN NA NA rs376960 773 117 0 0% 207 60 22.47% MO_1160 MO_1160 MO_1160 MO_1160 MO_1160 MO_1160 MO_1160 MO_1160 9 136131157 19 36133563 19 43865608 19 55358730 11 48367242 16 3363070 16 72001892 8 142480860 stopgain PRUNE2:NM_01522 5:exon8:c.C5977T:p. Q1993X ARRDC2:NM_00102 5604:exon5:c.C673T :p.R225X,ARRDC2: NM_001286826:exo n5:c.C688T:p.R230X ,ARRDC2:NM_0156 83:exon5:c.C688T:p. R230X PCDHGA9:NM_0189 21:exon1:c.C742T:p. R248X,PCDHGA9:N M_032089:exon1:c. C742T:p.R248X RAB23:NM_0012786 66:exon7:c.A714C:p. X238Y,RAB23:NM_0 01278667:exon7:c.A 714C:p.X238Y,RAB2 3:NM_001278668:ex on7:c.A714C:p.X238 Y,RAB23:NM_01627 7:exon7:c.A714C:p.X 238Y,RAB23:NM_18 3227:exon7:c.A714C :p.X238Y BBS9:NM_014451:e xon21:c.T2542G:p.X 848E,BBS9:NM_001 033604:exon22:c.T2 557G:p.X853E,BBS9 :NM_001033605:exo n22:c.T2647G:p.X88 3E,BBS9:NM_19842 8:exon23:c.T2662G: p.X888E NA UNKNOWN 14000183 G A C19orf57 unknown 23281862 GG AA LACTBL1 unknown TMEM120 75617467 CC TT unknown A 136131158 GG AA ABO unknown 36133564 GG AA ETV2 unknown 43865608 C T CD177 unknown 55358730 C T KIR2DS4 unknown 48367242 G A OR4C45 unknown 3363070 G T ZNF75A unknown 72001892 G A PKD1L3 unknown 142480860 C T MROH5 unknown rs141116 915 NA 97705699 G A GABRR3 unknown UNKNOWN ID=COSM1 594102,CO SM301181; OCCUREN NA CE=2(endo metrium),2 (large_inte stine) Negative MO_1160 Negative MO_1160 Negative MO_1160 6 82921240 82921240 G 15 34140514 34140514 G 6 132860167 132860167 G A T A IBTK RYR3 TAAR9 unknown unknown unknown UNKNOWN UNKNOWN UNKNOWN NA NA NA NA NA NA NA NA NA 84 143 118 0 0 0 0% 0% 0% 110 52 130 62 36.05% 64 55.17% 67 34.01% Index Negative MO_1160 1 169391129 169391129 C T CCDC181 unknown UNKNOWN NA NA NA 121 0 0% 157 70 30.84% Index Index Negative MO_1160 Negative MO_1160 5 154252158 154252158 C 4 110434928 110434928 C T T CNOT8 SEC24B unknown unknown UNKNOWN UNKNOWN NA NA NA NA 129 164 0 0 0% 0% 131 69 78 37.32% 80 53.69% Index Negative MO_1160 66321569 C T ACTN3 unknown UNKNOWN NA NA 230 0 0% 194 101 34.24% Index Index Index Index Negative Negative Negative Negative 1 49224624 49224624 G 7 100344273 100344273 C 4 22749155 22749155 G X 50135341 50135341 T A T T G BEND5 ZAN GBA3 DGKK unknown unknown unknown unknown UNKNOWN UNKNOWN UNKNOWN UNKNOWN NA NA NA NA NA NA NA NA NA NA rs714577 27 NA NA NA NA 173 291 191 109 0 0 0 0 0% 0% 0% 0% 129 270 173 32 103 110 115 119 Index Negative MO_1160 Index Index Index MO_1160 MO_1160 MO_1160 MO_1160 3 11 97705699 66321569 44.40% 28.95% 39.93% 78.81% Index Negative MO_1160 10 55568855 55568855 C T PCDH15 unknown UNKNOWN NA NA Index Negative MO_1160 16 3367426 3367426 C T ZNF75A unknown UNKNOWN NA NA Index Negative MO_1160 1 217793474 217793474 G A unknown UNKNOWN NA Index Index Index Index Index Index Index Index Index Index Negative Negative Negative Negative Negative Negative Negative Negative Negative Negative 1 45120834 45120834 G 5 120021988 120021988 C 17 43351524 43351524 G 2 234112932 234112932 G 19 15739585 15739585 C 19 47823574 47823574 G 11 76751631 76751631 G 17 79428529 79428529 C 19 15224628 15224628 G 9 97062584 97062584 C T T A A T A A T A T unknown unknown unknown unknown unknown unknown unknown unknown unknown unknown Index Negative MO_1109 1 Index Negative MO_1109 2 206657009 206657010 GG AA NRP2 frameshift substitution Index Negative MO_1109 6 10530069 frameshift substitution Index Negative MO_1109 1 909310 Index Negative MO_1109 1 20005697 20005698 GG AA HTR6 nonframeshift substitution Index Negative MO_1109 1 26897998 26897999 CC TT RPS6KA1 nonframeshift substitution Index Negative MO_1109 1 27875954 27875955 CC TT AHDC1 nonframeshift substitution Index Negative MO_1109 1 34090769 34090770 CC TT CSMD2 nonframeshift substitution Index Negative MO_1109 1 43637973 43637974 GG AA Index Negative MO_1109 1 109823497 109823498 GG AA PSRC1 nonframeshift substitution Index Negative MO_1109 1 120506319 120506320 CC TT NOTCH2 nonframeshift substitution Index Negative MO_1109 1 151755484 151755485 CC TT TDRKH nonframeshift substitution Index Negative MO_1109 1 155015843 155015844 GG AA DCST1 nonframeshift substitution Index Negative MO_1109 1 209823425 209823426 GG AA LAMB3 nonframeshift substitution Index Negative MO_1109 1 228465510 228465511 CC TT OBSCN nonframeshift substitution Index Negative MO_1109 1 231488501 231488502 CC TT SPRTN nonframeshift substitution Index Negative MO_1109 2 nonframeshift substitution UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN SLC2A5:NM_003039 :exon12:c.1303_130 3AA NRP2:NM_003872:e xon16:c.2476_2476A A,NRP2:NM_201266 :exon16:c.2491_249 1AA GCNT2:NM_145649: exon3:c.925_925AA PLEKHN1:NM_0011 60184:exon13:c.142 7_1428TT,PLEKHN1 :NM_032129:exon14 :c.1532_1533TT HTR6:NM_000871:e xon3:c.1159_1160A A RPS6KA1:NM_0010 06665:exon17:c.167 6_1677TT,RPS6KA1 :NM_002953:exon18 :c.1649_1650TT AHDC1:NM_001029 882:exon6:c.2672_2 673AA CSMD2:NM_001281 956:exon34:c.5381_ 5382AA,CSMD2:NM _052896:exon34:c.5 261_5262AA EBNA1BP2:NM_001 159936:exon1:c.119 _120TT PSRC1:NM_001005 290:exon6:c.704_70 5TT,PSRC1:NM_001 032291:exon6:c.805 _806TT,PSRC1:NM_ 032636:exon6:c.805 _806TT NOTCH2:NM_00120 0001:exon11:c.1792 _1793AA,NOTCH2:N M_024408:exon11:c. 1792_1793AA TDRKH:NM_001083 963:exon2:c.14_15A A,TDRKH:NM_0010 83964:exon2:c.14_1 5AA,TDRKH:NM_00 1083965:exon2:c.14 _15AA,TDRKH:NM_ 006862:exon2:c.14_ 15AA DCST1:NM_001143 687:exon9:c.955_95 6AA,DCST1:NM_152 494:exon10:c.1030_ 1031AA LAMB3:NM_001017 402:exon2:c.66_67T T,LAMB3:NM_00022 8:exon3:c.66_67TT, LAMB3:NM_001127 641:exon3:c.66_67T T OBSCN:NM_001098 623:exon25:c.6810_ 6811TT,OBSCN:NM _052843:exon25:c.6 810_6811TT,OBSC N:NM_001271223:ex on30:c.8097_8098T T SPRTN:NM_032018: exon5:c.864_865TT GALNT14:NM_0245 72:exon15:c.1609_1 610TT,GALNT14:NM _001253826:exon16: c.1624_1625TT,GAL NT14:NM_00125382 7:exon17:c.1549_15 50TT MO_1160 MO_1160 MO_1160 MO_1160 MO_1160 MO_1160 MO_1160 MO_1160 MO_1160 MO_1160 9097848 31133816 GPATCH 2 TMEM53 PRR16 MAP3K14 INPP5D CYP4F8 C5AR1 B3GNT6 BAHCC1 SYDE1 ZNF169 9097849 CC TT SLC2A5 10530070 GG AA GCNT2 909311 CC TT PLEKHN1 frameshift substitution nonframeshift substitution EBNA1BP nonframeshift 2 substitution 31133817 GG AA GALNT14 NA rs376917 976 238 0 0% 117 123 51.25% 183 0 0% 185 127 40.71% NA NA 229 0 0% 262 140 34.83% NA NA NA NA NA NA NA NA NA NA NA 0.0001997 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 320 266 296 299 305 381 593 833 800 546 0 0% 0 0% 0 0% 1 0.33% 0 0% 0 0% 0 0% 0 0% 0 0% 0 0% 307 322 282 296 133 361 440 593 300 239 155 160 165 177 193 215 275 333 425 523 33.55% 33.20% 36.91% 37.42% 59.20% 37.33% 38.46% 35.96% 58.62% 68.64% NA NA NA 279 0 0% 225 25 10% NA NA NA 55 0 0% 36 21 36.84% NA NA NA 178 0 0% 143 104 42.11% NA NA NA 247 0 0% 190 58 23.39% NA NA NA 166 0 0% 232 100 30.12% NA NA NA 134 0 0% 123 202 62.15% NA NA NA 411 0 0% 761 45 5.58% NA NA NA 453 0 0% 816 41 4.78% NA NA NA 410 0 0% 590 198 25.13% NA NA NA 168 1 0.59% 143 91 38.89% NA NA NA 224 0 0% 214 125 36.87% NA NA NA 65 0 0% 57 35 38.04% NA NA NA 220 0 0% 214 12 NA NA NA 162 0 0% 108 95 46.80% NA NA NA 80 0 0% 57 26 31.33% NA NA NA 153 0 0% 120 75 38.46% NA NA NA 302 0 0% 205 119 36.73% 5.31% Index Negative MO_1109 2 47221558 47221559 CC TT TTC7A nonframeshift substitution Index Negative MO_1109 2 61720050 61720051 CC TT XPO1 nonframeshift substitution Index Negative MO_1109 2 74274396 74274397 CC TT TET3 nonframeshift substitution Index Negative MO_1109 2 96957617 96957618 GG AA Index Negative MO_1109 2 97267439 97267440 CC TT KANSL3 TTC7A:NM_0012889 51:exon7:c.906_907 TT,TTC7A:NM_0204 58:exon7:c.906_907 TT,TTC7A:NM_0012 88953:exon8:c.804_ 805TT XPO1:NM_003400:e xon13:c.1383_1384A A TET3:NM_00128749 1:exon3:c.1352_135 3TT SNRNP200:NM_014 014:exon17:c.2181_ 2182TT KANSL3:NM_00111 5016:exon20:c.2556 _2557AA NA NA NA 227 0 0% 144 25 14.79% NA NA NA 103 0 0% 82 45 35.43% NA NA NA 546 1 0.18% 422 318 42.97% NA NA NA 230 0 0% 178 136 43.31% NA NA NA 87 0 0% 79 62 43.97% MYO1B:NM_012223: exon24:c.2506_2507 TT,MYO1B:NM_001 nonframeshift 130158:exon26:c.26 NA substitution 80_2681TT,MYO1B: NM_001161819:exo n26:c.2680_2681TT NA NA 94 0 0% 59 43 42.16% SNRNP20 nonframeshift 0 substitution nonframeshift substitution Index Negative MO_1109 2 192273818 192273819 CC TT MYO1B Index Negative MO_1109 2 209358325 209358326 CC TT PTH2R NA NA NA 288 0 0% 163 109 40.07% Index Negative MO_1109 2 219129266 NA NA NA 155 0 0% 122 83 40.49% Index Negative MO_1109 3 9782565 NA NA NA 226 0 0% 184 19 9.36% Index Negative MO_1109 3 9971715 NA NA NA 321 1 0.31% 275 11 3.85% Index Negative MO_1109 3 48697642 NA NA NA 619 1 0.16% 540 46 7.85% Index Negative MO_1109 3 121414027 NA NA NA 190 1 0.52% 152 110 41.98% Index Negative MO_1109 4 994446 NA NA NA 311 1 0.32% 271 206 43.19% Index Negative MO_1109 4 25014023 NA NA NA 130 0 0% 110 72 39.56% Index Negative MO_1109 4 48563534 NA NA NA 86 0 0% 60 40 40% Index Negative MO_1109 5 422920 NA NA NA 195 0 0% 168 132 44% Index Negative MO_1109 5 98192287 NA NA NA 162 0 0% 131 88 40.18% Index Negative MO_1109 5 167645314 NA NA NA 741 0 0% 454 313 40.81% Index Negative MO_1109 5 176083729 NA NA NA 246 0 0% 202 146 41.95% Index Negative MO_1109 6 32163690 NA NA NA 334 0 0% 290 180 38.30% Index Negative MO_1109 6 85448255 NA NA NA 56 0 0% 62 32 34.04% Index Negative MO_1109 6 126359969 NA NA NA 17 0 0% 20 10 33.33% PTH2R:NM_005048: nonframeshift exon13:c.1594_1595 substitution TT AAMP:NM_001087:e nonframeshift 219129267 GG AA AAMP xon11:c.1294_1295T substitution T BRPF1:NM_0010036 94:exon4:c.1662_16 nonframeshift 9782566 CC TT BRPF1 63TT,BRPF1:NM_00 substitution 4634:exon4:c.1662_ 1663TT IL17RC:NM_001203 265:exon12:c.1064_ 1065TT,IL17RC:NM_ 001203264:exon13:c .1109_1110TT,IL17R C:NM_032732:exon1 nonframeshift 3:c.1115_1116TT,IL 9971716 CC TT IL17RC substitution 17RC:NM_00120326 3:exon14:c.1160_11 61TT,IL17RC:NM_15 3460:exon14:c.1160 _1161TT,IL17RC:NM _153461:exon14:c.1 373_1374TT CELSR3:NM_00140 nonframeshift 48697643 CC TT CELSR3 7:exon1:c.2425_242 substitution 6AA GOLGB1:NM_00125 6488:exon12:c.5102 _5103TT,GOLGB1:N M_001256486:exon1 nonframeshift 3:c.5342_5343TT,G 121414028 GG AA GOLGB1 substitution OLGB1:NM_001256 487:exon13:c.5225_ 5226TT,GOLGB1:N M_004487:exon13:c. 5327_5328TT nonframeshift IDUA:NM_000203:ex 994447 GG AA IDUA substitution on3:c.346_347AA nonframeshift LGI2:NM_018176:ex 25014024 CC TT LGI2 substitution on7:c.753_754AA FRYL:NM_015030:e nonframeshift 48563535 GG AA FRYL xon33:c.3815_3816T substitution T AHRR:NM_0012424 12:exon6:c.530_531 nonframeshift 422921 GG AA AHRR AA,AHRR:NM_0207 substitution 31:exon6:c.530_531 AA CHD1:NM_001270:e nonframeshift 98192288 GG AA CHD1 xon35:c.4929_4930T substitution T TENM2:NM_001122 nonframeshift 167645315 CC TT TENM2 679:exon23:c.4391_ substitution 4392TT TSPAN17:NM_0010 06616:exon7:c.659_ 660TT,TSPAN17:NM nonframeshift 176083730 CC TT TSPAN17 _012171:exon7:c.66 substitution 8_669TT,TSPAN17: NM_130465:exon7:c .659_660TT NOTCH4:NM_00455 nonframeshift 32163691 CC TT NOTCH4 7:exon30:c.5535_55 substitution 36AA TBX18:NM_0010805 nonframeshift 85448256 CC TT TBX18 08:exon7:c.1058_10 substitution 59AA TRMT11:NM_00103 nonframeshift 126359970 CC TT TRMT11 1712:exon13:c.1379 substitution _1380TT Index Negative MO_1109 6 144263414 144263415 CC TT PLAGL1 nonframeshift substitution Index Negative MO_1109 7 4794131 4794132 CC TT FOXK1 nonframeshift substitution Index Negative MO_1109 7 4874552 4874553 CC TT RADIL nonframeshift substitution Index Negative MO_1109 7 82544138 82544139 GG AA PCLO nonframeshift substitution Index Negative MO_1109 7 107399552 107399553 CC TT CBLL1 nonframeshift substitution Index Negative MO_1109 7 128585952 128585953 GG AA IRF5 nonframeshift substitution Index Negative MO_1109 7 155556533 155556534 CC TT RBM33 nonframeshift substitution Index Negative MO_1109 8 10466984 10466985 GG AA RP1L1 nonframeshift substitution Index Negative MO_1109 8 37692771 37692772 GG AA GPR124 nonframeshift substitution Index Negative MO_1109 8 39872870 39872871 GG AA IDO2 nonframeshift substitution Index Negative MO_1109 8 68956788 68956789 GG AA PREX2 nonframeshift substitution Index Negative MO_1109 8 77618106 77618107 CC TT ZFHX4 nonframeshift substitution Index Negative MO_1109 8 144810198 144810199 CC TT FAM83H Index Negative MO_1109 8 145773515 145773516 CC TT Index Negative MO_1109 9 Index Negative MO_1109 9 136343420 136343421 CC TT SLC2A6 nonframeshift substitution Index Negative MO_1109 9 139391799 139391800 CC TT NOTCH1 nonframeshift substitution Index Negative MO_1109 9 139972602 139972603 GG AA UAP1L1 Index Negative MO_1109 10 79322416 70644416 NA NA NA 453 0 0% 303 13 NA NA NA 259 0 0% 185 23 11.06% NA NA NA 125 0 0% 114 102 47.22% NA NA NA 318 0 0% 199 143 41.81% NA NA NA 312 0 0% 243 181 42.69% NA NA NA 262 0 0% 227 166 42.24% NA NA NA 180 0 0% 146 68 31.78% NA NA NA 357 0 0% 244 189 43.65% NA NA NA 298 0 0% 249 NA NA NA 285 0 0% 216 137 38.81% NA NA NA 94 0 0% 88 50 36.23% NA NA NA 353 0 0% 226 15 6.22% NA NA NA 356 0 0% 254 16 5.93% NA NA NA 257 0 0% 217 171 44.07% NA NA NA 102 0 0% 74 52 41.27% NA NA NA 382 0 0% 284 206 42.04% NA NA NA 560 0 0% 492 48 8.89% nonframeshift UAP1L1:NM_207309 NA substitution :exon2:c.390_391AA NA NA 309 0 0% 263 20 7.07% STOX1:NM_001130 161:exon3:c.864_86 nonframeshift 5TT,STOX1:NM_152 NA substitution 709:exon3:c.864_86 5TT NA NA 308 0 0% 239 nonframeshift substitution ARHGAP nonframeshift 39 substitution 79322417 GG AA PRUNE2 70644417 GG TT STOX1 PLAGL1:NM_001289 038:exon4:c.382_38 3AA,PLAGL1:NM_00 1289047:exon4:c.53 8_539AA,PLAGL1:N M_001289037:exon5 :c.382_383AA,PLAG L1:NM_001289039:e xon5:c.382_383AA,P LAGL1:NM_0012890 42:exon5:c.538_539 AA,PLAGL1:NM_001 080955:exon6:c.382 _383AA,PLAGL1:NM _001080956:exon6:c .382_383AA,PLAGL 1:NM_001289040:ex on6:c.382_383AA,PL AGL1:NM_00128904 1:exon6:c.382_383A A,PLAGL1:NM_0012 89044:exon6:c.538_ 539AA,PLAGL1:NM_ 001289049:exon6:c. 538_539AA,PLAGL1 :NM_002656:exon6: c.382_383AA,PLAG L1:NM_001080952:e xon7:c.538 539AA,P FOXK1:NM_001037 165:exon3:c.788_78 9TT RADIL:NM_018059:e xon4:c.1101_1102A A PCLO:NM_014510:e xon7:c.13163_13164 TT,PCLO:NM_03302 6:exon7:c.13163_13 164TT CBLL1:NM_0012842 91:exon6:c.1402_14 03TT,CBLL1:NM_02 4814:exon6:c.1405_ 1406TT IRF5:NM_00109862 7:exon3:c.249_250A A,IRF5:NM_0010986 29:exon3:c.249_250 AA,IRF5:NM_001098 630:exon3:c.249_25 0AA,IRF5:NM_00124 2452:exon3:c.249_2 50AA,IRF5:NM_0326 43:exon3:c.249_250 AA RBM33:NM_053043: exon15:c.3007_3008 TT RP1L1:NM_178857: exon4:c.4623_4624T T GPR124:NM_03277 7:exon12:c.1688_16 89AA IDO2:NM_194294:ex on11:c.1012_1013A A PREX2:NM_024870: exon8:c.906_907AA, PREX2:NM_025170: exon8:c.906_907AA ZFHX4:NM_024721: exon2:c.1783_1784T T FAM83H:NM_19848 8:exon5:c.1432_143 3AA ARHGAP39:NM_025 251:exon6:c.954_95 5AA PRUNE2:NM_01522 5:exon8:c.4773_477 4TT SLC2A6:NM_001145 099:exon2:c.210_21 1AA,SLC2A6:NM_01 7585:exon2:c.210_2 11AA NOTCH1:NM_01761 7:exon34:c.6391_63 92AA nonframeshift substitution 12 4.11% 4.60% 165 40.84% Index Negative MO_1109 10 75557232 CC TT ZSWIM8 nonframeshift substitution Index Negative MO_1109 10 133946941 133946942 CC TT JAKMIP3 nonframeshift substitution Index Negative MO_1109 11 20070467 20070468 CC TT NAV2 nonframeshift substitution Index Negative MO_1109 11 64359222 64359223 GG AA Index Negative MO_1109 12 6635482 6635483 CC TT NCAPD2 nonframeshift substitution Index Negative MO_1109 12 46582760 46582761 CC TT SLC38A1 nonframeshift substitution Index Negative MO_1109 12 47629531 47629532 GG AA PCED1B nonframeshift substitution Index Negative MO_1109 12 52215809 52215810 CC TT FIGNL2 nonframeshift substitution Index Negative MO_1109 12 85521775 85521776 CC TT LRRIQ1 nonframeshift substitution Index Negative MO_1109 12 110566792 110566793 CC TT IFT81 nonframeshift substitution Index Negative MO_1109 13 nonframeshift substitution Index Negative MO_1109 13 111290673 111290674 CC TT CARKD Index Negative MO_1109 14 22102812 22102813 GG AA OR10G2 Index Negative MO_1109 14 61909940 61909941 GG AA PRKCH Index Negative MO_1109 15 40094259 40094260 CC TT GPR176 Index Negative MO_1109 16 1032034 1032035 GG AA SOX8 Index Negative MO_1109 16 1497441 1497442 GG AA CLCN7 Index Negative MO_1109 16 23716217 23716218 CC TT ERN2 Index Negative MO_1109 16 50828193 50828194 GG CA CYLD Index Negative MO_1109 16 66431955 66431956 GG AA CDH5 75557231 42461458 NA NA NA 510 0 0% 409 NA NA NA 93 0 0% 67 64 48.85% NA NA NA 659 1 0.15% 548 384 41.20% NA NA NA 354 0 0% 319 13 3.92% NA NA NA 348 0 0% 229 16 6.53% NA NA NA 149 0 0% 117 17 12.69% NA NA NA 312 0 0% 230 25 9.80% NA NA NA 211 0 0% 219 12 5.19% NA NA NA 41 0 0% 33 26 44.07% NA NA NA 88 0 0% 67 38 36.19% NA NA NA 24 0 0% 21 17 44.74% nonframeshift CARKD:NM_018210: NA substitution exon10:c.978_979TT NA NA 295 0 0% 208 11 5.02% NA NA NA 196 0 0% 152 12 7.32% NA NA NA 77 0 0% 79 42 34.71% NA NA NA 506 1 0.20% 45 287 86.45% NA NA NA 11 0 0% 10 14 58.33% NA NA NA 209 0 0% 205 153 42.74% NA NA NA 284 0 0% 216 154 41.62% NA NA NA 203 0 0% 117 NA NA NA 285 1 0.35% 257 SLC22A1 nonframeshift 2 substitution 42461459 GG AA VWA8 ZSWIM8:NM_00124 2487:exon18:c.3515 _3516TT,ZSWIM8:N M_001242488:exon1 8:c.3515_3516TT,ZS WIM8:NM_015037:e xon18:c.3530_3531T T JAKMIP3:NM_00110 5521:exon3:c.759_7 60TT NAV2:NM_00111101 9:exon6:c.1354_135 5TT,NAV2:NM_0011 11018:exon15:c.390 4_3905TT,NAV2:NM _145117:exon15:c.4 096_4097TT,NAV2: NM_182964:exon15: c.4096_4097TT,NAV 2:NM_001244963:ex on16:c.4165_4166T T SLC22A12:NM_0012 76326:exon1:c.194_ 195AA,SLC22A12:N M_001276327:exon1 :c.194_195AA,SLC2 2A12:NM_144585:ex on1:c.194_195AA NCAPD2:NM_01486 5:exon20:c.2511_25 12TT SLC38A1:NM_00127 8388:exon16:c.1456 _1457AA,SLC38A1: NM_001077484:exo n17:c.1456_1457AA, SLC38A1:NM_00127 8389:exon17:c.1456 _1457AA,SLC38A1: NM_030674:exon17: c.1456_1457AA,SLC 38A1:NM_00127838 7:exon18:c.1456_14 57AA PCED1B:NM_00128 1429:exon3:c.685_6 86AA,PCED1B:NM_ 138371:exon4:c.685 _686AA FIGNL2:NM_001013 690:exon2:c.388_38 9AA LRRIQ1:NM_001079 910:exon18:c.4173_ 4174TT IFT81:NM_00114377 9:exon4:c.286_287T T,IFT81:NM_014055 :exon4:c.286_287TT ,IFT81:NM_031473:e xon4:c.286_287TT VWA8:NM_0010098 14:exon6:c.690_691 TT,VWA8:NM_0150 58:exon6:c.690_691 TT OR10G2:NM_00100 nonframeshift 5466:exon1:c.186_1 substitution 87TT nonframeshift PRKCH:NM_006255: substitution exon3:c.539_540AA GPR176:NM_00127 1855:exon3:c.486_4 87AA,GPR176:NM_0 nonframeshift 07223:exon3:c.621_ substitution 622AA,GPR176:NM_ 001271854:exon4:c. 618_619AA nonframeshift SOX8:NM_014587:e substitution xon1:c.112_113AA CLCN7:NM_001114 331:exon22:c.2129_ nonframeshift 2130TT,CLCN7:NM_ substitution 001287:exon23:c.22 01_2202TT nonframeshift ERN2:NM_033266:e substitution xon8:c.984_985AA CYLD:NM_00104235 5:exon17:c.2531_25 32CA,CYLD:NM_001 nonframeshift 042412:exon17:c.25 substitution 31_2532CA,CYLD:N M_015247:exon19:c. 2540_2541CA CDH5:NM_001795:e nonframeshift xon9:c.1431_1432A substitution A 45 63 9.91% 35% 178 40.92% Index Negative MO_1109 16 69965737 Index Negative MO_1109 16 70504893 Index Negative MO_1109 16 88500532 Index Negative MO_1109 16 88932960 Index Negative MO_1109 16 89251630 Index Negative MO_1109 17 4726000 Index Negative MO_1109 17 7164257 Index Negative MO_1109 17 7577141 Index Negative MO_1109 17 9808468 Index Negative MO_1109 17 36483057 Index Negative MO_1109 17 46058124 Index Negative MO_1109 17 65936615 Index Negative MO_1109 17 79911006 Index Negative MO_1109 18 9533370 Index Negative MO_1109 18 21136263 Index Negative MO_1109 19 4302379 Index Negative MO_1109 19 12985098 69965738 CC TT WWP2 WWP2:NM_199424: exon6:c.309_310TT, WWP2:NM_0012704 53:exon13:c.1278_1 nonframeshift 279TT,WWP2:NM_0 NA substitution 01270454:exon16:c. 1626_1627TT,WWP 2:NM_007014:exon1 7:c.1626_1627TT NA NA 198 0 0% 173 148 46.11% NA NA NA 228 0 0% 193 149 43.57% NA NA NA 240 1 0.41% 223 NA NA NA 171 0 0% 139 132 48.71% NA NA NA 355 0 0% 318 198 38.37% NA NA NA 237 0 0% 204 151 42.54% NA NA NA 308 1 0.32% 201 148 42.41% NA NA NA 155 0 0% 9 NA NA NA 429 1 0.23% 280 NA NA NA 578 1 0.17% 447 17 NA NA NA 186 0 0% 153 92 37.55% NA NA NA 250 0 0% 162 125 43.55% NA NA NA 264 0 0% 227 NA NA NA 49 0 0% 38 44 53.66% nonframeshift NPC1:NM_000271:e NA substitution xon8:c.1269_1270TT NA NA 211 0 0% 142 95 40.08% NA NA 68 0 0% 60 14 18.92% NA NA 348 0 0% 271 FUK:NM_145059:ex nonframeshift 70504894 CC TT FUK on12:c.1088_1089T substitution T ZNF469:NM_001127 nonframeshift 88500533 GG AA ZNF469 464:exon2:c.6570_6 substitution 571AA PABPN1L:NM_0010 80487:exon1:c.54_5 nonframeshift 88932961 GG AA PABPN1L 5TT,PABPN1L:NM_ substitution 001294328:exon1:c. 54_55TT nonframeshift CDH15:NM_004933: 89251631 GG AA CDH15 substitution exon5:c.552_553AA PLD2:NM_00124310 8:exon25:c.2610_26 nonframeshift 4726001 GG AA PLD2 11AA,PLD2:NM_002 substitution 663:exon25:c.2643_ 2644AA CLDN7:NM_001185 023:exon2:c.270_27 1AA,CLDN7:NM_001 nonframeshift 7164258 CC TT CLDN7 307:exon2:c.270_27 substitution 1AA,CLDN7:NM_001 185022:exon3:c.270 _271AA TP53:NM_00112611 5:exon4:c.400_401A A,TP53:NM_001126 116:exon4:c.400_40 1AA,TP53:NM_0011 26117:exon4:c.400_ 401AA,TP53:NM_00 1276697:exon4:c.31 9_320AA,TP53:NM_ 001276698:exon4:c. 319_320AA,TP53:N M_001276699:exon4 :c.319_320AA,TP53: NM_001126118:exo nonframeshift 7577142 CC TT TP53 n7:c.679_680AA,TP substitution 53:NM_000546:exon 8:c.796_797AA,TP5 3:NM_001126112:ex on8:c.796_797AA,T P53:NM_001126113: exon8:c.796_797AA, TP53:NM_00112611 4:exon8:c.796_797A A,TP53:NM_001276 695:exon8:c.679_68 0AA,TP53:NM_0012 76696:exon8:c.679_ 680AA,TP53:NM_00 1276760:exon8:c.67 nonframeshift RCVRN:NM_002903 9808469 GG AA RCVRN substitution :exon1:c.29_30TT GPR179:NM_00100 nonframeshift 36483058 GG AA GPR179 4334:exon11:c.6394 substitution _6395TT CDK5RAP3:NM_001 278198:exon10:c.56 8_569AA,CDK5RAP 3:NM_001278216:ex on10:c.568_569AA, CDK5RAP3:NM_001 CDK5RAP nonframeshift 46058125 CC AA 278217:exon11:c.98 3 substitution 2_983AA,CDK5RAP 3:NM_001278197:ex on12:c.1318_1319A A,CDK5RAP3:NM_1 76096:exon12:c.124 3_1244AA BPTF:NM_182641:e xon19:c.6320_6321T nonframeshift 65936616 CC TT BPTF T,BPTF:NM_004459: substitution exon21:c.6698_6699 TT NOTUM:NM_178493 nonframeshift 79911007 GG AA NOTUM :exon11:c.1321_132 substitution 2TT RALBP1:NM_00678 nonframeshift 9533371 CC TT RALBP1 8:exon8:c.1493_149 substitution 4TT 21136264 GG AA NPC1 4302380 CC TT TMIGD2 12985099 CC TT MAST1 TMIGD2:NM_001169 nonframeshift 126:exon1:c.3_4AA, NA substitution TMIGD2:NM_144615 :exon1:c.3_4AA MAST1:NM_014975: nonframeshift exon26:c.4127_4128 NA substitution TT 11 16 4.70% 64% 199 41.54% 18 24 3.66% 7.35% 8.14% Index Negative MO_1109 19 18242761 Index Negative MO_1109 19 18729005 Index Negative MO_1109 19 35617758 Index Negative MO_1109 19 39805491 Index Negative MO_1109 19 48665532 Index Negative MO_1109 19 50909768 Index Negative MO_1109 19 56463941 Index Negative MO_1109 19 57868405 Index Negative MO_1109 20 2321110 Index Negative MO_1109 20 19956385 Index Negative MO_1109 20 44048997 Index Negative MO_1109 21 36231783 Index Negative MO_1109 22 18020143 Index Negative MO_1109 22 25425240 Index Negative MO_1109 22 37420419 Index Negative MO_1109 22 37891916 Index Negative MO_1109 22 38164181 Index Negative MO_1109 X 44088966 Index Negative MO_1109 X 101911147 Index Negative MO_1109 1 1152974 Index Negative MO_1109 1 1229792 Index Negative MO_1109 1 1271694 Index Negative MO_1109 1 2938945 Index Negative MO_1109 1 4832518 MAST3:NM_015016: nonframeshift exon14:c.1388_1389 substitution TT TMEM59L:NM_0121 nonframeshift 18729006 CC TT TMEM59L 09:exon6:c.705_706 substitution TT nonframeshift LGI4:NM_139284:ex 35617759 GG AA LGI4 substitution on7:c.791_792TT nonframeshift LRFN1:NM_020862: 39805492 GG AA LRFN1 substitution exon1:c.485_486TT LIG1:NM_000234:ex nonframeshift on3:c.93_94AA,LIG1 48665533 CC TT LIG1 substitution :NM_001289064:exo n3:c.93_94AA POLD1:NM_001256 849:exon12:c.1488_ nonframeshift 50909769 CC TT POLD1 1489TT,POLD1:NM_ substitution 002691:exon12:c.14 88_1489TT nonframeshift NLRP8:NM_176811: 56463942 GG AA NLRP8 substitution exon2:c.405_406AA ZNF304:NM_020657 :exon3:c.1168_1169 TT,ZNF304:NM_001 nonframeshift 57868406 CC TT ZNF304 290318:exon4:c.130 substitution 9_1310TT,ZNF304:N M_001290319:exon4 :c.1042_1043TT TGM3:NM_003245:e nonframeshift 2321111 CC TT TGM3 xon13:c.1965_1966T substitution T RIN2:NM_018993:ex on7:c.1716_1717AA, nonframeshift 19956386 GG AA RIN2 RIN2:NM_00124258 substitution 1:exon8:c.1863_186 4AA PIGT:NM_00118473 0:exon5:c.489_490T T,PIGT:NM_001184 728:exon6:c.627_62 nonframeshift 44048998 CC TT PIGT 8TT,PIGT:NM_0011 substitution 84729:exon7:c.795_ 796TT,PIGT:NM_01 5937:exon7:c.795_7 96TT RUNX1:NM_001001 890:exon3:c.519_52 0TT,RUNX1:NM_001 nonframeshift 36231784 GG AA RUNX1 122607:exon3:c.519 substitution _520TT,RUNX1:NM_ 001754:exon6:c.600 _601TT CECR2:NM_001290 nonframeshift 18020144 GG AA CECR2 046:exon14:c.1049_ substitution 1050AA KIAA1671:NM_0011 nonframeshift 25425241 CC TT KIAA1671 45206:exon1:c.1274 substitution _1275TT MPST:NM_0010134 36:exon2:c.163_164 TT,MPST:NM_02112 nonframeshift 37420420 CC TT MPST 6:exon2:c.223_224T substitution T,MPST:NM_001130 517:exon3:c.163_16 4TT CARD10:NM_01455 nonframeshift 37891917 CC TT CARD10 0:exon14:c.2153_21 substitution 54AA TRIOBP:NM_007032 :exon9:c.1434_1435 nonframeshift 38164182 CC TT TRIOBP TT,TRIOBP:NM_001 substitution 039141:exon19:c.65 73_6574TT EFHC2:NM_025184: nonframeshift 44088967 GG AA EFHC2 exon11:c.1679_1680 substitution TT GPRASP1:NM_0010 99411:exon3:c.2306 _2307TT,GPRASP1: NM_001099410:exo GPRASP nonframeshift n4:c.2306_2307TT, 101911148 CC TT 1 substitution GPRASP1:NM_0147 10:exon5:c.2306_23 07TT,GPRASP1:NM _001184727:exon6:c .2306_2307TT SDF4:NM_016176:e nonsynonymo 1152974 G A SDF4 xon7:c.C1007T:p.P3 us SNV 36L ACAP3:NM_030649: nonsynonymo 1229792 G A ACAP3 exon21:c.C2129T:p. us SNV A710V DVL1:NM_004421:e nonsynonymo 1271694 G A DVL1 xon15:c.C1841T:p.P us SNV 614L ACTRT2:NM_08043 nonsynonymo 2938945 C T ACTRT2 1:exon1:c.C695T:p.S us SNV 232F AJAP1:NM_0010424 78:exon4:c.C1096T: nonsynonymo 4832518 C T AJAP1 p.P366S,AJAP1:NM us SNV _018836:exon4:c.C1 096T:p.P366S 18242762 CC TT MAST3 NA NA NA 191 0 0% 160 118 42.45% NA NA NA 124 0 0% 98 74 43.02% NA NA NA 113 0 0% 80 66 45.21% NA NA NA 567 0 0% 404 320 44.20% NA NA NA 124 0 0% 91 66 42.04% NA NA NA 92 1 1.08% 64 43 40.19% NA NA NA 195 0 0% 109 80 42.33% NA NA NA 170 0 0% 119 12 NA NA NA 305 1 0.33% 240 NA NA NA 33 0 0% 26 NA NA NA 430 0 0% 319 NA NA NA 357 0 0% 265 14 NA NA NA 186 1 0.53% 138 81 36.99% NA NA NA 264 0 0% 180 133 42.49% NA NA NA 219 0 0% 457 84 15.53% NA NA NA 527 0 0% 454 31 NA NA NA 173 1 0.57% 145 218 60.06% NA NA NA 62 0 0% 6 39 86.67% NA NA NA 103 0 0% 13 106 89.08% NA NA NA 483 0 0% 706 343 32.70% NA NA NA 31 0 0% 20 41 67.21% NA NA NA 161 0 0% 295 175 37.23% NA NA NA 289 0 0% 197 362 64.76% NA NA NA 405 1 0.25% 552 247 30.91% 9.16% 186 43.66% 26 50% 173 35.16% 5.02% 6.39% Index Negative MO_1109 1 6304681 6304681 C T Index Negative MO_1109 1 11187753 11187753 A C Index Negative MO_1109 1 14099645 14099645 C T Index Negative MO_1109 1 21053553 21053553 G A Index Negative MO_1109 1 22920171 22920171 G A Index Negative MO_1109 1 22970667 22970667 G A Index Negative MO_1109 1 23767691 23767691 C T Index Negative MO_1109 1 24409193 24409193 G A Index Negative MO_1109 1 26371655 26371655 C T Index Negative MO_1109 1 26510933 26510933 G A Index Negative MO_1109 1 27631590 27631590 C T HES3:NM_00102459 nonsynonymo 8:exon3:c.C155T:p.S us SNV 52F MTOR:NM_004958:e nonsynonymo MTOR xon44:c.T6144G:p.F us SNV 2048L PRDM2:NM_012231: exon7:c.C584T:p.P1 nonsynonymo PRDM2 95L,PRDM2:NM_015 us SNV 866:exon7:c.C584T: p.P195L SH2D5:NM_0011031 nonsynonymo SH2D5 61:exon4:c.C184T:p. us SNV R62W EPHA8:NM_020526: nonsynonymo EPHA8 exon7:c.G1595A:p.G us SNV 532E C1QC:NM_0011141 01:exon2:c.G151A:p. nonsynonymo C1QC D51N,C1QC:NM_17 us SNV 2369:exon2:c.G151A :p.D51N ASAP3:NM_0011437 78:exon9:c.G821A:p. nonsynonymo ASAP3 R274Q,ASAP3:NM_ us SNV 017707:exon10:c.G8 48A:p.R283Q MYOM3:NM_152372 nonsynonymo MYOM3 :exon17:c.C1982T:p. us SNV P661L SLC30A2:NM_00100 4434:exon2:c.G104A nonsynonymo SLC30A2 :p.R35Q,SLC30A2:N us SNV M_032513:exon2:c. G104A:p.R35Q CNKSR1:NM_00631 nonsynonymo CNKSR1 4:exon12:c.G1042A: us SNV p.E348K HES3 0% 81 90 52.63% 1 0.67% 241 78 24.45% 0% 80 37 31.62% 0 0% 198 345 63.54% 325 0 0% 488 207 29.78% NA 83 0 0% 68 115 62.84% NA NA 293 0 0% 220 367 62.52% NA NA NA 148 1 0.67% 116 180 60.81% NA NA NA 148 0 0% 122 174 58.78% NA NA NA 212 1 0.47% 325 153 32.01% WDTC1:NM_001276 252:exon15:c.C1742 nonsynonymo T:p.S581F,WDTC1: NA us SNV NM_015023:exon15: c.C1739T:p.S580F NA NA 193 0 0% 150 233 60.84% NA NA 52 0 0% 35 NA NA 218 0 0% 169 213 55.76% NA NA 361 0 0% 260 368 58.60% CSMD2 CSMD2:NM_052896: exon59:c.G9160A:p. nonsynonymo G3054R,CSMD2:NM NA us SNV _001281956:exon60: c.G9592A:p.G3198R NA NA 360 1 0.28% 522 184 26.06% CSMD2:NM_001281 956:exon43:c.G6694 nonsynonymo A:p.D2232N,CSMD2: NA us SNV NM_052896:exon44: c.G6700A:p.D2234N NA NA 209 0 0% 361 155 30.04% NA NA NA 200 0 0% 91 161 63.89% NA NA NA 213 1 0.47% 191 290 60.29% NA NA NA 230 0 0% 404 178 30.58% NA NA NA 147 0 0% 116 180 60.81% NA NA NA 435 0 0% 323 486 60.07% NA NA NA 157 0 0% 110 202 64.74% NA NA NA 178 0 0% 308 127 29.20% NA NA NA 551 0 0% 361 705 66.14% NA NA NA 134 0 0% 226 103 31.31% WDTC1 Index Negative MO_1109 1 29018141 29018141 C T GMEB1 Index Negative MO_1109 1 31454160 31454160 G C PUM1 Index Negative MO_1109 1 32568249 32568249 G A TMEM39 B Index Negative MO_1109 1 34006164 34006164 C T Index Negative MO_1109 1 34067985 34067985 C T CSMD2 Index Negative MO_1109 1 35351243 35351243 C T DLGAP3 Index Negative MO_1109 1 35824670 35824670 G A Index Negative MO_1109 1 36054138 36054138 G A Index Negative MO_1109 1 38005903 38005903 G A Index Negative MO_1109 1 43296513 43296513 C T Index Negative MO_1109 1 46094019 46094019 G A Index Negative MO_1109 1 46546381 46546381 G A Index Negative MO_1109 1 48459887 48459887 C T Index Negative MO_1109 1 49119110 49119110 G T NA NA NA 79 NA NA NA 149 NA NA NA 48 0 NA NA NA 243 NA NA NA NA NA NA GMEB1:NM_006582: exon4:c.C286T:p.P9 nonsynonymo 6S,GMEB1:NM_024 NA us SNV 482:exon4:c.C256T: p.P86S PUM1:NM_0010206 58:exon8:c.C1251G: nonsynonymo p.I417M,PUM1:NM_ NA us SNV 014676:exon8:c.C12 51G:p.I417M TMEM39B:NM_0180 nonsynonymo 56:exon9:c.G1454A: NA us SNV p.R485K DLGAP3:NM_00108 nonsynonymo 0418:exon7:c.C1750 us SNV A:p.L584I ZMYM4:NM_005095: nonsynonymo ZMYM4 exon3:c.G230A:p.G7 us SNV 7E TFAP2E:NM_178548 nonsynonymo TFAP2E :exon4:c.G770A:p.G us SNV 257E SNIP1:NM_024700:e nonsynonymo SNIP1 xon3:c.C781T:p.L26 us SNV 1F ERMAP:NM_018538 :exon3:c.C160T:p.L5 nonsynonymo ERMAP 4F,ERMAP:NM_001 us SNV 017922:exon4:c.C16 0T:p.L54F GPBP1L1:NM_0216 nonsynonymo GPBP1L1 39:exon13:c.C1334T us SNV :p.S445F PIK3R3:NM_003629: exon2:c.C148T:p.P5 nonsynonymo PIK3R3 0S,PIK3R3:NM_001 us SNV 114172:exon3:c.C14 8T:p.P50S TRABD2B:NM_0011 nonsynonymo TRABD2B 94986:exon2:c.G485 us SNV A:p.R162K AGBL4:NM_032785: nonsynonymo AGBL4 exon8:c.C738A:p.F2 us SNV 46L 0 65 65% Index Negative MO_1109 1 52231512 52231512 C A OSBPL9 nonsynonymo us SNV Index Negative MO_1109 1 63999230 63999230 G A EFCAB7 nonsynonymo us SNV Index Negative MO_1109 1 65852502 65852502 C T DNAJC6 nonsynonymo us SNV Index Negative MO_1109 1 78001582 78001582 G A AK5 nonsynonymo us SNV Index Negative MO_1109 1 86961283 86961283 G A CLCA1 nonsynonymo us SNV Index Negative MO_1109 1 87563609 87563609 C T HS2ST1 nonsynonymo us SNV Index Negative MO_1109 1 89597851 89597851 C T GBP7 nonsynonymo us SNV Index Index Negative MO_1109 Negative MO_1109 1 1 90401041 92428355 90401041 T 92428355 C G T OSBPL9:NM_14890 5:exon7:c.C263A:p.P 88Q,OSBPL9:NM_1 48904:exon8:c.C263 A:p.P88Q,OSBPL9: NM_148907:exon8:c .C467A:p.P156Q,OS BPL9:NM_148906:ex on11:c.C746A:p.P24 9Q,OSBPL9:NM_14 8908:exon11:c.C758 A:p.P253Q,OSBPL9: NM_024586:exon12: c.C797A:p.P266Q,O SBPL9:NM_148909: exon12:c.C827A:p.P 276Q EFCAB7:NM_03243 7:exon5:c.G592A:p. E198K DNAJC6:NM_00125 6864:exon8:c.C1003 T:p.R335C,DNAJC6: NM_014787:exon8:c .C832T:p.R278C,DN AJC6:NM_00125686 5:exon9:c.C793T:p.R 265C AK5:NM_012093:exo n13:c.G1401A:p.M46 7I,AK5:NM_174858: exon13:c.G1479A:p. M493I CLCA1:NM_001285: exon12:c.G2038A:p. G680R HS2ST1:NM_001134 492:exon5:c.C677T: p.S226F,HS2ST1:N M_012262:exon5:c. C677T:p.S226F GBP7:NM_207398:e xon11:c.G1898A:p.G 633D NA NA NA 53 0 0% 82 41 33.33% NA NA NA 48 0 0% 36 32 47.06% NA NA NA 109 0 0% 78 65 45.45% NA NA NA 111 0 0% 86 59 40.69% NA NA NA 145 0 0% 123 92 42.79% NA NA NA 161 0 0% 150 92 38.02% NA NA NA 76 1 1.30% 50 48 48.98% LRRC8D LRRC8D:NM_00113 4479:exon3:c.T2414 nonsynonymo G:p.L805R,LRRC8D: NA us SNV NM_018103:exon3:c .T2414G:p.L805R NA NA 279 0 0% 221 167 43.04% BRDT BRDT:NM_0012428 06:exon2:c.C44T:p.P 15L,BRDT:NM_0012 42807:exon2:c.C44T :p.P15L,BRDT:NM_0 01242808:exon2:c.C nonsynonymo 44T:p.P15L,BRDT:N NA us SNV M_001726:exon2:c. C44T:p.P15L,BRDT: NM_207189:exon2:c .C44T:p.P15L,BRDT: NM_001242805:exo n3:c.C44T:p.P15L NA NA 170 0 0% 118 94 44.34% ID=COSM1 208116;OC CURENCE NA =2(large_in testine) NA 377 0 0% 290 198 40.57% NA NA NA 247 1 0.40% 236 148 38.54% NA NA NA 117 0 0% 89 71 44.38% NA NA NA 370 0 0% 226 183 44.74% NA NA NA 61 0 0% 31 29 48.33% NA NA NA 289 0 0% 198 188 48.70% Index Negative MO_1109 1 92941605 92941605 G A GFI1 nonsynonymo us SNV Index Negative MO_1109 1 94140387 94140387 G A BCAR3 nonsynonymo us SNV Index Negative MO_1109 1 94487493 94487493 G A ABCA4 nonsynonymo us SNV Index Negative MO_1109 1 99772195 99772195 G A LPPR4 nonsynonymo us SNV Index Negative MO_1109 1 101487288 101487288 C T DPH5 nonsynonymo us SNV Index Negative MO_1109 1 109824584 109824584 G A PSRC1 nonsynonymo us SNV GFI1:NM_00112721 5:exon7:c.C1250T:p. T417M,GFI1:NM_00 1127216:exon7:c.C1 250T:p.T417M,GFI1: NM_005263:exon7:c .C1250T:p.T417M BCAR3:NM_001261 409:exon2:c.C100T: p.L34F,BCAR3:NM_ 003567:exon2:c.C10 0T:p.L34F,BCAR3:N M_001261408:exon4 :c.C100T:p.L34F ABCA4:NM_000350: exon33:c.C4682T:p. S1561F LPPR4:NM_0011662 52:exon6:c.G1747A: p.G583S,LPPR4:NM _014839:exon7:c.G1 921A:p.G641S DPH5:NM_00107739 4:exon3:c.G169A:p. D57N,DPH5:NM_00 1077395:exon3:c.G1 69A:p.D57N,DPH5:N M_015958:exon3:c. G169A:p.D57N PSRC1:NM_001005 290:exon4:c.C176T: p.P59L,PSRC1:NM_ 001032291:exon4:c. C176T:p.P59L,PSR C1:NM_032636:exon 4:c.C176T:p.P59L Index Negative MO_1109 1 110294673 110294673 C T EPS8L3 EPS8L3:NM_024526 :exon15:c.G1288A:p. E430K,EPS8L3:NM_ nonsynonymo 133181:exon15:c.G1 NA us SNV 378A:p.E460K,EPS8 L3:NM_139053:exon 15:c.G1381A:p.E461 K NA NA 325 0 0% 236 155 39.64% AP4B1:NM_0012538 52:exon5:c.G926A:p. G309D,AP4B1:NM_0 nonsynonymo 01253853:exon6:c.G NA us SNV 629A:p.G210D,AP4B 1:NM_006594:exon6 :c.G926A:p.G309D NA NA 147 0 0% 95 72 43.11% NA NA 233 0 0% 168 129 43.43% NA NA 289 0 0% 234 153 39.53% Index Negative MO_1109 1 114442714 114442714 C T AP4B1 Index Negative MO_1109 1 117311113 117311113 G A CD2 Index Negative MO_1109 1 117635465 117635465 C T TTF2 NA NA 305 0 0% 215 170 44.16% CD2:NM_001767:ex nonsynonymo on5:c.G764A:p.R255 NA us SNV K TTF2:NM_003594:ex nonsynonymo on18:c.C2918T:p.S9 NA us SNV 73F Index Negative MO_1109 1 120497813 120497813 G A NOTCH2:NM_00120 0001:exon13:c.C206 nonsynonymo NOTCH2 9T:p.P690L,NOTCH NA us SNV 2:NM_024408:exon1 3:c.C2069T:p.P690L Index Negative MO_1109 1 145555821 145555821 C T ANKRD35 ANKRD35:NM_1446 nonsynonymo 98:exon2:c.C169T:p. NA us SNV P57S NA NA 75 0 0% 47 34 41.98% FMO5:NM_0011448 30:exon3:c.C353T:p. P118L,FMO5:NM_00 nonsynonymo 1144829:exon4:c.C3 NA us SNV 53T:p.P118L,FMO5: NM_001461:exon4:c .C353T:p.P118L NA NA 90 0 0% 75 40 34.78% NA NA NA 364 0 0% 304 240 44.12% NA NA NA 278 1 0.36% 214 156 42.16% NA NA NA 215 0 0% 176 136 43.59% NA NA NA 84 0 0% 45 49 52.13% ID=COSM3 LELP1:NM_0010108 nonsynonymo 12480;OC 57:exon2:c.C287T:p. NA us SNV CURENCE P96L =1(lung) NA 416 2 0.48% 370 262 41.46% Index Negative MO_1109 1 146685009 146685009 G A FMO5 Index Negative MO_1109 1 151259863 151259863 G A ZNF687 Index Negative MO_1109 1 152059364 152059364 G A TCHHL1 Index Negative MO_1109 1 152059653 152059653 G A TCHHL1 Index Negative MO_1109 1 152659503 152659503 G T LCE2B Index Negative MO_1109 1 153177470 153177470 C T LELP1 ZNF687:NM_020832 nonsynonymo :exon2:c.G1096A:p. us SNV A366T TCHHL1:NM_00100 nonsynonymo 8536:exon3:c.C794T us SNV :p.P265L TCHHL1:NM_00100 nonsynonymo 8536:exon3:c.C505T us SNV :p.P169S LCE2B:NM_014357: nonsynonymo exon2:c.G184T:p.G6 us SNV 2C Index Negative MO_1109 1 154224101 154224101 C T UBAP2L nonsynonymo us SNV Index Negative MO_1109 1 156828358 156828358 G A INSRR nonsynonymo us SNV Index Negative MO_1109 1 156879810 156879810 G A PEAR1 nonsynonymo us SNV Index Negative MO_1109 1 158592948 158592948 T C SPTA1 nonsynonymo us SNV Index Negative MO_1109 1 158687515 158687515 G A OR6K3 Index Negative MO_1109 1 159038369 159038369 G A AIM2 Index Negative MO_1109 1 159043043 159043043 C T AIM2 Index Negative MO_1109 1 160461017 160461017 A G Index Negative MO_1109 1 169762187 169762187 T A UBAP2L:NM_00112 7320:exon14:c.C163 6T:p.P546S,UBAP2L :NM_001287815:exo n14:c.C1615T:p.P53 9S,UBAP2L:NM_001 287816:exon14:c.C1 669T:p.P557S,UBAP 2L:NM_014847:exon 14:c.C1636T:p.P546 S INSRR:NM_014215: exon1:c.C56T:p.S19 F PEAR1:NM_001080 471:exon13:c.G1588 A:p.G530R SPTA1:NM_003126: exon43:c.A5945G:p. Q1982R NA NA NA 191 0 0% 126 118 48.36% NA NA rs140915 043 415 0 0% 354 237 40.10% NA NA NA 390 0 0% 314 266 45.86% NA NA NA 83 0 0% 66 38 36.54% NA 238 1 0.42% 163 116 41.58% NA 99 0 0% 58 42 NA NA 128 0 0% 88 62 41.33% NA NA 182 0 0% 126 89 41.40% NA NA 153 0 0% 124 72 36.73% ID=COSM1 668109;OC CURENCE OR6K3:NM_001005 nonsynonymo =1(skin),3( 327:exon1:c.C391T: NA us SNV haematopo p.R131C ietic_and_l ymphoid_ti ssue) AIM2:NM_004833:ex nonsynonymo on3:c.C385T:p.P129 NA NA us SNV S nonsynonymo AIM2:NM_004833:ex NA us SNV on2:c.G247A:p.E83K SLAMF6:NM_00118 4716:exon2:c.T211C :p.S71P,SLAMF6:N M_001184714:exon3 nonsynonymo :c.T544C:p.S182P,S SLAMF6 NA us SNV LAMF6:NM_0011847 15:exon3:c.T397C:p. S133P,SLAMF6:NM _052931:exon3:c.T5 44C:p.S182P METTL18:NM_0334 nonsynonymo METTL18 18:exon2:c.A650T:p. NA us SNV D217V 42% Index Index Negative MO_1109 Negative MO_1109 1 180158768 180158768 C 1 182354672 182354672 G T A QSOX1 QSOX1:NM_001004 128:exon9:c.C1099T nonsynonymo :p.P367S,QSOX1:N NA us SNV M_002826:exon9:c. C1099T:p.P367S NA NA 59 1 1.67% 67 47 41.23% GLUL GLUL:NM_00103304 4:exon6:c.C623T:p.P 208L,GLUL:NM_001 nonsynonymo 033056:exon6:c.C62 NA us SNV 3T:p.P208L,GLUL:N M_002065:exon7:c. C623T:p.P208L NA NA 27 0 0% 17 15 46.88% NA NA NA 64 0 0% 44 38 46.34% NA NA NA 45 0 0% 40 27 40.30% NA NA NA 97 0 0% 75 49 39.52% NA NA NA 168 0 0% 143 92 39.15% NA NA NA 56 0 0% 37 42 53.16% NA NA NA 192 0 0% 168 120 41.67% NA NA NA 415 0 0% 301 259 46.25% NA NA NA 120 0 0% 99 NA NA NA 212 0 0% 160 106 39.85% nonsynonymo us SNV SMG7:NM_0011740 61:exon21:c.C3221T :p.S1074F,SMG7:N M_173156:exon21:c. C3197T:p.S1066F,S MG7:NM_201568:ex on21:c.C3059T:p.S1 020F,SMG7:NM_201 569:exon22:c.C3209 T:p.S1070F IVNS1ABP:NM_0064 69:exon10:c.C917T: p.A306V CFHR5:NM_030787: exon10:c.G1678A:p. E560K ZBTB41:NM_194314 :exon10:c.C2590T:p. P864S CRB1:NM_00119364 0:exon8:c.A3433G:p. T1145A,CRB1:NM_0 01257966:exon8:c.A 2161G:p.T721A,CRB 1:NM_201253:exon1 0:c.A3769G:p.T1257 A,CRB1:NM_001257 965:exon13:c.A3697 G:p.T1233A IGFN1:NM_0011645 86:exon11:c.C1142T :p.S381L NAV1:NM_00116773 8:exon16:c.G2797A: p.E933K,NAV1:NM_ 020443:exon19:c.G3 979A:p.E1327K KDM5B:NM_006618: exon14:c.C1913T:p. S638F YOD1:NM_018566:e xon2:c.G751A:p.E25 1K,YOD1:NM_00127 6320:exon4:c.G619A :p.E207K LAMB3:NM_001017 402:exon5:c.G557A: p.G186E,LAMB3:NM _000228:exon6:c.G5 57A:p.G186E,LAMB 3:NM_001127641:ex on6:c.G557A:p.G186 E Index Negative MO_1109 1 183520222 183520222 C T SMG7 Index Negative MO_1109 1 185270307 185270307 G A IVNS1AB nonsynonymo P us SNV Index Negative MO_1109 1 196977781 196977781 G A CFHR5 nonsynonymo us SNV Index Negative MO_1109 1 197128629 197128629 G A ZBTB41 nonsynonymo us SNV Index Negative MO_1109 1 197407696 197407696 A G CRB1 nonsynonymo us SNV Index Negative MO_1109 1 201174435 201174435 C T IGFN1 nonsynonymo us SNV Index Negative MO_1109 1 201777679 201777679 G A NAV1 nonsynonymo us SNV Index Negative MO_1109 1 202718176 202718176 G A KDM5B nonsynonymo us SNV Index Negative MO_1109 1 207222661 207222661 C T YOD1 nonsynonymo us SNV Index Negative MO_1109 1 209807799 209807799 C T LAMB3 nonsynonymo us SNV NA NA NA 366 0 0% 315 209 39.89% T RPS6KC1:NM_0012 87220:exon9:c.C120 2T:p.S401F,RPS6K C1:NM_001136138:e xon10:c.C2561T:p.S 854F,RPS6KC1:NM_ 001287221:exon10:c nonsynonymo .C2054T:p.S685F,R RPS6KC1 NA us SNV PS6KC1:NM_00128 7218:exon11:c.C196 1T:p.S654F,RPS6K C1:NM_001287219:e xon11:c.C1961T:p.S 654F,RPS6KC1:NM_ 012424:exon11:c.C2 597T:p.S866F NA NA 167 0 0% 170 104 37.96% G RPS6KC1:NM_0012 87220:exon13:c.T17 85G:p.D595E,RPS6 KC1:NM_001136138 :exon14:c.T3144G:p. D1048E,RPS6KC1:N M_001287221:exon1 nonsynonymo 4:c.T2637G:p.D879E RPS6KC1 NA us SNV ,RPS6KC1:NM_0012 87218:exon15:c.T25 44G:p.D848E,RPS6 KC1:NM_001287219 :exon15:c.T2544G:p. D848E,RPS6KC1:N M_012424:exon15:c. T3180G:p.D1060E NA NA 110 0 0% 96 87 47.54% A USH2A:NM_206933: nonsynonymo exon62:c.A12236T:p NA us SNV .N4079I NA NA 111 0 0% 96 89 48.11% Index Index Index Negative MO_1109 Negative MO_1109 Negative MO_1109 1 213415416 213415416 C 1 213445956 213445956 T 1 215853549 215853549 T USH2A 66 40% Index Negative MO_1109 1 222803602 222803602 G A MIA3 Index Negative MO_1109 1 223176042 223176042 G A DISP1 Index Negative MO_1109 1 225548458 225548458 C T DNAH14 Index Negative MO_1109 1 226420866 226420866 G A Index Negative MO_1109 1 230883313 230883313 C T Index Negative MO_1109 1 230991427 230991427 G A Index Negative MO_1109 1 237659954 237659954 G T Index Negative MO_1109 1 240286580 240286580 C T Index Negative MO_1109 1 241936151 241936151 G A Index Negative MO_1109 1 244006445 244006445 C T Index Negative MO_1109 1 244715859 244715859 G A Index Negative MO_1109 1 244756834 244756834 C T LIN9 MIA3:NM_198551:ex nonsynonymo on4:c.G3040A:p.E10 NA us SNV 14K DISP1:NM_032890:e nonsynonymo xon10:c.G1303A:p.D NA us SNV 435N DNAH14:NM_00137 nonsynonymo 3:exon73:c.C11573T NA us SNV :p.S3858F NA NA 114 0 0% 82 66 44.59% NA NA 237 1 0.42% 157 123 43.93% NA NA 93 0 0% 61 63 50.81% NA NA 62 0 0% 42 38 47.50% NA NA 366 0 0% 329 223 40.40% NA NA 73 0 0% 58 59 50.43% NA NA 157 0 0% 120 96 44.44% ID=COSM1 23196;OC FMN2:NM_020066:e nonsynonymo CURENCE xon2:c.C1717T:p.P5 NA us SNV =1(upper_ 73S aerodigesti ve_tract) NA 152 0 0% 113 90 44.33% LIN9:NM_001270409 :exon13:c.C1397T:p. S466F,LIN9:NM_001 nonsynonymo 270410:exon14:c.C1 NA us SNV 298T:p.S433F,LIN9: NM_173083:exon14: c.C1502T:p.S501F CAPN9:NM_006615: exon1:c.C71T:p.S24 nonsynonymo CAPN9 F,CAPN9:NM_01645 NA us SNV 2:exon1:c.C71T:p.S2 4F C1orf198:NM_03280 0:exon2:c.C371T:p.S nonsynonymo C1orf198 124F,C1orf198:NM_ NA us SNV 001136494:exon4:c. C257T:p.S86F RYR2:NM_001035:e nonsynonymo RYR2 xon20:c.G2105T:p.G NA us SNV 702V FMN2 WDR64:NM_144625 nonsynonymo WDR64 :exon19:c.G2318A:p. us SNV G773E AKT3:NM_005465:e xon1:c.G28A:p.G10S ,AKT3:NM_181690:e nonsynonymo AKT3 xon1:c.G28A:p.G10S us SNV ,AKT3:NM_0012067 29:exon2:c.G28A:p. G10S C1orf101:NM_00124 2340:exon6:c.G319A :p.E107K,C1orf101: nonsynonymo NM_001130957:exo C1orf101 us SNV n9:c.G772A:p.E258K ,C1orf101:NM_1738 07:exon9:c.G772A:p. E258K C1orf101:NM_00124 2340:exon14:c.C180 4T:p.P602S,C1orf10 nonsynonymo 1:NM_001130957:ex C1orf101 us SNV on17:c.C2257T:p.P7 53S,C1orf101:NM_1 73807:exon17:c.C22 57T:p.P753S Index Negative MO_1109 1 245765894 245765894 C T KIF26B Index Negative MO_1109 1 245850432 245850432 G A KIF26B Index Negative MO_1109 1 247263944 247263944 G A Index Negative MO_1109 1 248525317 248525317 C G Index Negative MO_1109 1 249107190 249107190 C T Index Negative MO_1109 2 1168825 1168825 C T Index Negative MO_1109 2 10263562 10263562 G A Index Negative MO_1109 2 12880708 12880708 C T Index Negative MO_1109 2 25384236 25384236 G A Index Negative MO_1109 2 27305538 27305538 C T NA NA NA 179 0 0% 134 90 40.18% NA NA NA 256 1 0.39% 201 160 44.32% NA NA NA 255 0 0% 204 155 43.18% NA NA NA 68 0 0% 42 24 36.36% ID=COSM2 KIF26B:NM_018012: 10660;OC nonsynonymo exon6:c.C1366T:p.R CURENCE NA us SNV 456C =1(large_in testine) NA 66 0 0% 38 43 53.09% KIF26B:NM_018012: nonsynonymo exon12:c.G4147A:p. us SNV G1383R ZNF669:NM_001142 572:exon4:c.C869T: nonsynonymo ZNF669 p.S290F,ZNF669:NM us SNV _024804:exon4:c.C1 127T:p.S376F OR2T4:NM_0010046 nonsynonymo OR2T4 96:exon1:c.C435G:p. us SNV F145L SH3BP5L:NM_0306 nonsynonymo SH3BP5L 45:exon6:c.G709A:p. us SNV E237K SNTG2:NM_018968: nonsynonymo SNTG2 exon8:c.C547T:p.L1 us SNV 83F RRM2:NM_001034:e xon3:c.G223A:p.E75 nonsynonymo RRM2 K,RRM2:NM_001165 us SNV 931:exon3:c.G403A: p.E135K TRIB2:NM_021643:e nonsynonymo TRIB2 xon3:c.C820T:p.P27 us SNV 4S POMC:NM_000939: exon3:c.C518T:p.P1 nonsynonymo POMC 73L,POMC:NM_001 us SNV 035256:exon4:c.C51 8T:p.P173L EMILIN1:NM_00704 nonsynonymo EMILIN1 6:exon4:c.C1099T:p. us SNV R367C NA NA NA 109 0 0% 102 65 38.92% NA NA NA 199 0 0% 154 113 42.32% NA NA NA 118 0 0% 63 61 49.19% NA NA NA 30 0 0% 32 11 25.58% NA NA NA 52 0 0% 29 24 45.28% NA NA NA 86 0 0% 75 50 NA NA NA 539 0 0% 345 241 41.13% NA NA NA 350 0 0% 280 184 39.66% NA NA NA 164 0 0% 133 96 41.92% 40% Index Negative MO_1109 2 27596976 27596976 C T SNX17 nonsynonymo us SNV Index Negative MO_1109 2 27883992 27883992 C T SUPT7L nonsynonymo us SNV Index Negative MO_1109 2 27884088 27884088 C T SUPT7L nonsynonymo us SNV Index Negative MO_1109 2 28627145 28627145 C T FOSL2 nonsynonymo us SNV Index Negative MO_1109 2 32582232 32582232 G A BIRC6 nonsynonymo us SNV EIF2AK2 Index Negative MO_1109 2 37374079 37374079 G A Index Negative MO_1109 2 38156547 38156547 C T Index Negative MO_1109 2 44021814 44021814 C T Index Negative MO_1109 2 44547648 44547648 G A SNX17:NM_0012670 60:exon5:c.C382T:p. P128S,SNX17:NM_0 01267059:exon6:c.C 421T:p.P141S,SNX1 7:NM_001267061:ex on6:c.C397T:p.P133 S,SNX17:NM_01474 8:exon6:c.C457T:p.P 153S SUPT7L:NM_001282 729:exon3:c.G278A: p.G93D,SUPT7L:NM _001282730:exon3:c .G272A:p.G91D,SUP T7L:NM_001282731: exon3:c.G272A:p.G9 1D,SUPT7L:NM_014 860:exon3:c.G278A: p.G93D SUPT7L:NM_001282 729:exon3:c.G182A: p.S61N,SUPT7L:NM _001282730:exon3:c .G176A:p.S59N,SUP T7L:NM_001282731: exon3:c.G176A:p.S5 9N,SUPT7L:NM_014 860:exon3:c.G182A: p.S61N FOSL2:NM_005253: exon2:c.C274T:p.P9 2S BIRC6:NM_016252:e xon1:c.G3A:p.M1I NA NA NA 124 0 0% 124 88 41.51% NA NA NA 525 0 0% 384 275 41.73% NA NA NA 498 0 0% 406 297 42.25% NA NA NA 696 1 0.14% 507 423 45.48% NA NA NA 226 1 0.44% 176 126 41.72% EIF2AK2:NM_00113 5652:exon2:c.C157T :p.P53S,EIF2AK2:N nonsynonymo M_001135651:exon4 NA us SNV :c.C157T:p.P53S,EIF 2AK2:NM_002759:ex on4:c.C157T:p.P53S NA NA 51 0 0% 39 28 41.79% NA NA 97 1 1.02% 63 41 39.42% NA NA 168 0 0% 119 80 40.20% ID=COSM1 SLC3A1:NM_000341 nonsynonymo 38298;OC :exon10:c.G1928A:p. NA us SNV CURENCE G643E =1(skin) NA 173 0 0% 101 84 45.41% NA NA 227 0 0% 192 139 41.99% NA NA 184 1 0.54% 140 87 38.33% NA NA 179 1 0.56% 162 122 42.96% RMDN2:NM_001170 791:exon2:c.C127T: nonsynonymo RMDN2 p.L43F,RMDN2:NM_ NA us SNV 001170792:exon2:c. C127T:p.L43F DYNC2LI1:NM_0155 DYNC2LI nonsynonymo 22:exon6:c.C539T:p. NA 1 us SNV S180F SLC3A1 Index Negative MO_1109 2 55253986 55253986 C T RTN4 Index Negative MO_1109 2 63272570 63272570 G A EHBP1 Index Negative MO_1109 2 71839927 71839927 G A DYSF RTN4:NM_020532:e xon3:c.G1249A:p.E4 nonsynonymo 17K,RTN4:NM_2075 NA us SNV 21:exon3:c.G631A:p. E211K EHBP1:NM_001142 614:exon23:c.G3526 A:p.E1176K,EHBP1: NM_001142615:exo n23:c.G3418A:p.E11 nonsynonymo 40K,EHBP1:NM_001 NA us SNV 142616:exon23:c.G3 418A:p.E1140K,EHB P1:NM_015252:exon 25:c.G3631A:p.E121 1K DYSF:NM_00113097 6:exon38:c.G4282A: p.G1428S,DYSF:NM _001130977:exon38: c.G4282A:p.G1428S ,DYSF:NM_0011309 84:exon38:c.G4285A :p.G1429S,DYSF:N M_001130986:exon3 8:c.G4285A:p.G1429 S,DYSF:NM_001130 455:exon39:c.G4327 A:p.G1443S,DYSF:N M_001130978:exon3 nonsynonymo 9:c.G4324A:p.G1442 NA us SNV S,DYSF:NM_001130 980:exon39:c.G4375 A:p.G1459S,DYSF:N M_001130981:exon3 9:c.G4375A:p.G1459 S,DYSF:NM_001130 983:exon39:c.G4327 A:p.G1443S,DYSF:N M_001130985:exon3 9:c.G4378A:p.G1460 S,DYSF:NM_001130 987:exon39:c.G4378 A:p.G1460S,DYSF:N M 003494:exon39:c. Index Negative MO_1109 2 74594855 74594855 C T DCTN1 Index Negative MO_1109 2 75107684 75107684 C T HK2 Index Negative MO_1109 2 88874207 88874207 C T Index Negative MO_1109 2 100906800 100906800 T C Index Negative MO_1109 2 121106687 121106687 C T Index Negative MO_1109 2 141055538 141055538 C T Index Negative MO_1109 2 141460035 141460035 C T Index Negative MO_1109 2 141751644 141751644 C T Index Negative MO_1109 2 152349937 152349937 C T Index Negative MO_1109 2 152529038 152529038 G A Index Negative MO_1109 2 166243289 166243289 A G Index Negative MO_1109 2 170396650 170396650 G A Index Negative MO_1109 2 173787018 173787018 A T Index Negative MO_1109 2 178096108 178096108 G A Index Negative MO_1109 2 178096110 178096110 C A DCTN1:NM_001135 041:exon13:c.G1750 A:p.E584K,DCTN1:N M_023019:exon13:c. G1750A:p.E584K,D CTN1:NM_00113504 0:exon15:c.G2092A: nonsynonymo p.E698K,DCTN1:NM NA us SNV _001190836:exon15: c.G2041A:p.E681K, DCTN1:NM_001190 837:exon17:c.G2131 A:p.E711K,DCTN1:N M_004082:exon18:c. G2152A:p.E718K HK2:NM_000189:ex nonsynonymo on10:c.C1558T:p.P5 us SNV 20S EIF2AK3:NM_00483 nonsynonymo EIF2AK3 6:exon13:c.G2794A: us SNV p.G932R LONRF2:NM_19846 nonsynonymo LONRF2 1:exon10:c.A1840G: us SNV p.I614V INHBB:NM_002193: nonsynonymo INHBB exon2:c.C461T:p.S1 us SNV 54F LRP1B:NM_018557: nonsynonymo LRP1B exon84:c.G12806A:p us SNV .G4269E LRP1B:NM_018557: nonsynonymo LRP1B exon38:c.G6111A:p. us SNV M2037I LRP1B:NM_018557: nonsynonymo LRP1B exon16:c.G2564A:p. us SNV R855K NEB:NM_004543:ex on143:c.G19091A:p. R6364K,NEB:NM_00 1164507:exon176:c. G24695A:p.R8232K, nonsynonymo NEB NEB:NM_001164508 us SNV :exon176:c.G24695A :p.R8232K,NEB:NM_ 001271208:exon177: c.G24800A:p.R8267 K NEB:NM_001164507 :exon37:c.C4144T:p. H1382Y,NEB:NM_00 1164508:exon37:c.C nonsynonymo 4144T:p.H1382Y,NE NEB us SNV B:NM_001271208:ex on37:c.C4144T:p.H1 382Y,NEB:NM_0045 43:exon37:c.C4144T :p.H1382Y SCN2A:NM_001040 143:exon25:c.A4585 G:p.T1529A,SCN2A: nonsynonymo NM_001040142:exo SCN2A us SNV n26:c.A4585G:p.T15 29A,SCN2A:NM_021 007:exon26:c.A4585 G:p.T1529A FASTKD1:NM_0012 81476:exon10:c.C18 nonsynonymo 56T:p.S619F,FASTK FASTKD1 us SNV D1:NM_024622:exon 10:c.C1856T:p.S619 F RAPGEF4:NM_0011 00397:exon3:c.A95T :p.D32V,RAPGEF4: NM_001282899:exo nonsynonymo n3:c.A68T:p.D23V,R RAPGEF4 us SNV APGEF4:NM_00128 2900:exon3:c.A68T: p.D23V,RAPGEF4:N M_007023:exon6:c.A 527T:p.D176V NFE2L2:NM_001145 412:exon5:c.C1175T :p.S392L,NFE2L2:N nonsynonymo M_001145413:exon5 NFE2L2 us SNV :c.C1154T:p.S385L, NFE2L2:NM_006164 :exon5:c.C1223T:p.S 408L NFE2L2:NM_001145 412:exon5:c.G1173T :p.L391F,NFE2L2:N nonsynonymo M_001145413:exon5 NFE2L2 us SNV :c.G1152T:p.L384F, NFE2L2:NM_006164 :exon5:c.G1221T:p.L 407F NA NA 279 0 0% 220 193 46.73% NA NA NA 432 0 0% 331 235 41.52% NA NA NA 66 0 0% 37 31 45.59% NA NA NA 112 0 0% 86 53 38.13% NA NA NA 146 0 0% 110 112 50.45% NA NA NA 38 0 0% 30 26 46.43% NA NA NA 72 0 0% 48 23 32.39% NA NA NA 109 0 0% 79 53 40.15% NA NA NA 58 0 0% 61 41 40.20% NA NA NA 347 1 0.29% 242 163 40.25% NA NA NA 68 0 0% 53 41 43.62% NA NA NA 23 0 0% 19 22 53.66% NA NA NA 83 0 0% 77 79 50.64% NA NA NA 295 0 0% 209 156 42.74% NA NA NA 297 0 0% 209 157 42.90% Index Index Negative MO_1109 Negative MO_1109 2 179434687 179434687 C 2 179466761 179466761 C T T TTN TTN:NM_003319:ex on154:c.G48977A:p. S16326N,TTN:NM_1 33432:exon155:c.G4 9352A:p.S16451N,T TN:NM_133437:exon 155:c.G49553A:p.S1 nonsynonymo 6518N,TTN:NM_133 NA us SNV 378:exon275:c.G684 68A:p.S22823N,TTN :NM_001256850:exo n276:c.G71249A:p.S 23750N,TTN:NM_00 1267550:exon326:c. G76172A:p.S25391 N NA NA 168 0 0% 134 98 42.24% TTN TTN:NM_003319:ex on112:c.G28042A:p. E9348K,TTN:NM_13 3432:exon113:c.G28 417A:p.E9473K,TTN :NM_133437:exon11 3:c.G28618A:p.E954 nonsynonymo 0K,TTN:NM_133378: NA us SNV exon233:c.G47533A: p.E15845K,TTN:NM _001256850:exon23 4:c.G50314A:p.E167 72K,TTN:NM_00126 7550:exon284:c.G55 237A:p.E18413K NA NA 115 0 0% 102 77 43.02% NA NA NA 165 0 0% 130 80 38.10% NA NA rs369553 799 174 0 0% 132 103 43.83% NA NA NA 185 0 0% 106 98 48.04% NA NA NA 48 0 0% 36 31 46.27% NA NA NA 70 0 0% 44 42 48.84% NA NA NA 118 0 0% 86 53 38.13% NA NA NA 83 0 0% 70 51 42.15% rs370084 230 43 0 0% 28 23 45.10% 1 0.36% 156 148 48.68% TTN:NM_133378:ex on138:c.G29914A:p. E9972K,TTN:NM_00 1256850:exon139:c. G32695A:p.E10899K ,TTN:NM_00126755 0:exon141:c.G33646 A:p.E11216K TTN:NM_133378:ex on95:c.C24472T:p.R 8158C,TTN:NM_001 256850:exon96:c.C2 7253T:p.R9085C,TT N:NM_001267550:ex on98:c.C28204T:p.R 9402C TTN:NM_133378:ex on52:c.G12542A:p.G 4181E,TTN:NM_001 256850:exon53:c.G1 5323A:p.G5108E,TT N:NM_001267550:ex on55:c.G16274A:p.G 5425E FRZB:NM_001463:e xon2:c.C484T:p.P16 2S NUP35:NM_138285: exon3:c.C319T:p.P1 07S,NUP35:NM_001 287584:exon4:c.C26 8T:p.P90S ZNF804A:NM_19425 0:exon4:c.G2360A:p. R787Q ANKAR:NM_144708: exon12:c.C2627T:p. S876F PMS1:NM_000534:e xon2:c.G29A:p.R10 Q,PMS1:NM_001128 143:exon2:c.G29A:p. R10Q,PMS1:NM_00 1128144:exon2:c.G2 9A:p.R10Q Index Negative MO_1109 2 179544344 179544344 C T TTN nonsynonymo us SNV Index Negative MO_1109 2 179575620 179575620 G A TTN nonsynonymo us SNV Index Negative MO_1109 2 179597629 179597629 C T TTN nonsynonymo us SNV Index Negative MO_1109 2 183723556 183723556 G A FRZB nonsynonymo us SNV Index Negative MO_1109 2 183995253 183995253 C T NUP35 nonsynonymo us SNV Index Negative MO_1109 2 185802483 185802483 G A ZNF804A nonsynonymo us SNV Index Negative MO_1109 2 190585505 190585505 C T ANKAR nonsynonymo us SNV Index Negative MO_1109 2 190656564 190656564 G A PMS1 nonsynonymo us SNV C2orf88:NM_001042 519:exon2:c.C80T:p. P27L,C2orf88:NM_0 01042520:exon2:c.C nonsynonymo 80T:p.P27L,C2orf88: NA us SNV NM_032321:exon2:c .C80T:p.P27L,C2orf8 8:NM_001042521:ex on3:c.C80T:p.P27L Index Negative MO_1109 2 191064666 191064666 C T C2orf88 Index Negative MO_1109 2 196699053 196699053 G A DNAH7 Index Negative MO_1109 2 198273096 198273096 G A SF3B1 Index Negative MO_1109 2 202611306 202611306 G A ALS2 Index Negative MO_1109 2 202672337 202672337 G A CDK15 DNAH7:NM_018897: nonsynonymo exon48:c.C8977T:p. us SNV P2993S SF3B1:NM_012433: nonsynonymo exon8:c.C1114T:p.P us SNV 372S ALS2:NM_020919:ex nonsynonymo on9:c.C1981T:p.L66 us SNV 1F CDK15:NM_0012614 35:exon2:c.G244A:p. E82K,CDK15:NM_00 nonsynonymo 1261436:exon2:c.G2 us SNV 44A:p.E82K,CDK15: NM_139158:exon2:c .G91A:p.E31K NA 0.0009984 NA NA 275 NA NA NA 46 0 0% 40 29 42.03% NA NA NA 48 0 0% 44 34 43.59% NA NA NA 91 0 0% 76 67 46.85% NA NA NA 53 0 0% 54 42 43.75% Index Negative MO_1109 2 203622120 203622120 C T FAM117B Index Negative MO_1109 2 210642107 210642107 G A UNC80 Index Negative MO_1109 2 210860290 210860290 G A UNC80 Index Negative MO_1109 2 220284845 220284845 G A DES Index Negative MO_1109 2 226447584 226447584 G A NYAP2 Index Negative MO_1109 2 227907864 227907864 C T COL4A4 Index Negative MO_1109 2 227963463 227963463 A G COL4A4 Index Negative MO_1109 2 228680179 228680179 A G CCL20 Index Negative MO_1109 2 228855895 228855895 C A SPHKAP Index Negative MO_1109 2 231944898 231944898 C T PSMD1 Index Index Index Index Index Negative MO_1109 Negative MO_1109 Negative MO_1109 Negative MO_1109 Negative MO_1109 2 238419287 238419287 G 3 3 3 3 4712489 9483894 9784727 17208398 4712489 G 9483894 C 9784727 G 17208398 G A A T A A FAM117B:NM_1735 nonsynonymo 11:exon6:c.C1289T: us SNV p.P430L UNC80:NM_032504: exon4:c.G424A:p.G1 nonsynonymo 42S,UNC80:NM_182 us SNV 587:exon4:c.G424A: p.G142S UNC80:NM_182587: exon63:c.G9676A:p. nonsynonymo D3226N,UNC80:NM us SNV _032504:exon64:c.G 9748A:p.D3250N DES:NM_001927:ex nonsynonymo on2:c.G607A:p.E203 us SNV K NYAP2:NM_020864: nonsynonymo exon4:c.G1451A:p.G us SNV 484E COL4A4:NM_00009 nonsynonymo 2:exon36:c.G3326A: us SNV p.G1109D COL4A4:NM_00009 nonsynonymo 2:exon19:c.T1151C: us SNV p.V384A CCL20:NM_0011300 46:exon2:c.A83G:p. nonsynonymo N28S,CCL20:NM_00 us SNV 4591:exon2:c.A86G: p.N29S SPHKAP:NM_03062 3:exon10:c.G4693T: nonsynonymo p.A1565S,SPHKAP: us SNV NM_001142644:exo n11:c.G4780T:p.A15 94S PSMD1:NM_001191 037:exon12:c.C1283 nonsynonymo T:p.P428L,PSMD1:N us SNV M_002807:exon12:c. C1283T:p.P428L NA NA NA 273 NA NA NA 97 0 0% 70 NA NA NA 167 0 0% 137 86 38.57% NA NA NA 339 1 0.29% 275 199 41.98% NA NA NA 352 0 0% 296 242 44.98% NA NA NA 132 0 0% 114 89 43.84% NA NA NA 78 1 1.27% 50 46 47.92% NA NA NA 37 0 0% 29 16 35.56% NA NA NA 200 0 0% 141 103 42.21% NA NA NA 73 0 0% 76 40 34.48% MLPH MLPH:NM_0010424 67:exon3:c.G181A:p. E61K,MLPH:NM_00 1281473:exon3:c.G1 nonsynonymo 81A:p.E61K,MLPH:N NA us SNV M_024101:exon3:c. G181A:p.E61K,MLP H:NM_001281474:ex on4:c.G181A:p.E61K NA rs141649 649 188 0 0% 150 116 43.61% ITPR1 ITPR1:NM_0011682 72:exon19:c.G2038A :p.E680K,ITPR1:NM nonsynonymo _002222:exon19:c.G NA us SNV 2038A:p.E680K,ITP R1:NM_001099952:e xon20:c.G2083A:p.E 695K NA NA 91 0 0% 63 52 45.22% SETD5 SETD5:NM_0010805 17:exon10:c.C1042T nonsynonymo :p.R348W,SETD5:N NA us SNV M_001292043:exon1 2:c.C748T:p.R250W NA NA 85 1 1.16% 75 64 46.04% BRPF1 BRPF1:NM_0010036 94:exon7:c.G2101A: nonsynonymo p.E701K,BRPF1:NM us SNV _004634:exon7:c.G2 083A:p.E695K ID=COSM1 618155;OC NA CURENCE =2(liver) NA 281 0 0% 222 217 49.43% TBC1D5 TBC1D5:NM_01474 4:exon21:c.C1955T: nonsynonymo p.S652F,TBC1D5:N NA us SNV M_001134381:exon2 3:c.C2021T:p.S674F NA 24 0 0% 21 13 38.24% NA 1 0.36% 191 158 45.27% 55 44% Index Negative MO_1109 3 20219818 20219818 C T SGOL1 nonsynonymo us SNV Index Negative MO_1109 3 32188128 32188128 G A GPD1L nonsynonymo us SNV Index Negative MO_1109 3 33584970 33584970 G C CLASP2 nonsynonymo us SNV Index Negative MO_1109 3 38158000 38158000 G A DLEC1 nonsynonymo us SNV SCN10A Index Negative MO_1109 3 38793916 38793916 G A SGOL1:NM_001012 409:exon4:c.G361A: p.G121R,SGOL1:NM _001012410:exon4:c .G361A:p.G121R,SG OL1:NM_001012411 :exon4:c.G361A:p.G 121R,SGOL1:NM_00 1012412:exon4:c.G3 61A:p.G121R,SGOL 1:NM_001012413:ex on4:c.G361A:p.G121 R,SGOL1:NM_00119 9251:exon4:c.G361A :p.G121R,SGOL1:N M_001199252:exon4 :c.G361A:p.G121R,S GOL1:NM_00119925 3:exon4:c.G361A:p. G121R,SGOL1:NM_ 001199254:exon4:c. G361A:p.G121R,SG OL1:NM_001199255 :exon4:c.G361A:p.G 121R,SGOL1:NM_00 1199256:exon4:c.G3 61A:p.G121R,SGOL 1:NM_001199257:ex on4:c.G361A:p.G121 GPD1L:NM_015141: exon5:c.G520A:p.E1 74K CLASP2:NM_00120 7044:exon26:c.C272 3G:p.P908R,CLASP 2:NM_015097:exon3 2:c.C3386G:p.P1129 R DLEC1:NM_007335: exon28:c.G3913A:p. E1305K,DLEC1:NM_ 007337:exon28:c.G3 913A:p.E1305K NA NA NA 44 0 0% 36 29 44.62% NA NA rs112122 950 79 0 0% 35 35 NA NA NA 49 0 0% 47 23 32.86% NA NA NA 207 0 0% 166 82 33.06% SCN10A:NM_00129 3306:exon11:c.C154 nonsynonymo 9T:p.P517S,SCN10A NA us SNV :NM_006514:exon11 :c.C1549T:p.P517S NA NA 212 1 0.47% 163 124 43.21% NA NA NA 532 0 0% 465 321 40.84% NA NA NA 107 0 0% 69 79 53.38% NA NA NA 168 0 0% 138 111 44.58% NA NA NA 77 0 0% 59 36 37.89% NA NA NA 250 1 0.40% 216 176 44.90% NA XIRP1:NM_0011986 21:exon2:c.C3074T: p.S1025F,XIRP1:NM _194293:exon2:c.C3 074T:p.S1025F ZNF619:NM_001145 082:exon4:c.C245T: p.S82L ZNF662:NM_001134 656:exon4:c.G567A: p.M189I,ZNF662:NM _207404:exon5:c.G4 89A:p.M163I KIF9:NM_022342:ex on4:c.C349T:p.P117 S,KIF9:NM_182902: exon4:c.C349T:p.P1 17S,KIF9:NM_00113 4878:exon5:c.C349T :p.P117S QARS:NM_0012720 73:exon13:c.C1102T :p.P368S,QARS:NM _005051:exon13:c.C 1135T:p.P379S HESX1:NM_003865: exon1:c.A81C:p.L27 F 50% Index Negative MO_1109 3 39227863 39227863 G A XIRP1 nonsynonymo us SNV Index Negative MO_1109 3 40523787 40523787 C T ZNF619 nonsynonymo us SNV Index Negative MO_1109 3 42956054 42956054 G A ZNF662 nonsynonymo us SNV Index Negative MO_1109 3 47315059 47315059 G A KIF9 nonsynonymo us SNV Index Negative MO_1109 3 49137652 49137652 G A QARS nonsynonymo us SNV Index Negative MO_1109 3 57233866 57233866 T G HESX1 nonsynonymo us SNV NA NA 127 0 0% 105 90 46.15% A ID=COSM2 PRICKLE2:NM_1988 76895;OC PRICKLE nonsynonymo 59:exon8:c.C1816T: CURENCE NA 2 us SNV p.R606C =1(large_in testine) NA 602 1 0.17% 432 324 42.86% T ID=COSM1 LRIG1:NM_015541:e nonsynonymo 06476;OC xon14:c.G1855A:p.E NA us SNV CURENCE 619K =1(skin) rs140303 911 362 0 0% 328 226 40.79% Index Index Negative MO_1109 Negative MO_1109 3 3 64085446 66434631 64085446 G 66434631 C LRIG1 Index Negative MO_1109 3 69171327 69171327 G A LMOD3 Index Negative MO_1109 3 98073301 98073301 T A OR5K4 Index Negative MO_1109 3 107884280 107884280 C T IFT57 Index Negative MO_1109 3 109023507 109023507 C A DPPA2 LMOD3:NM_198271: nonsynonymo exon1:c.C211T:p.L7 us SNV 1F OR5K4:NM_001005 nonsynonymo 517:exon1:c.T604A: us SNV p.F202I IFT57:NM_018010:e nonsynonymo xon9:c.G1042A:p.E3 us SNV 48K DPPA2:NM_138815: nonsynonymo exon7:c.G669T:p.W us SNV 223C NA NA NA 100 0 0% 56 47 45.63% NA NA NA 101 0 0% 79 62 43.97% NA NA NA 59 0 0% 31 30 49.18% NA NA NA 118 0 0% 71 36 33.64% Index Index Negative MO_1109 Negative MO_1109 3 111658448 111658448 G 3 112052062 112052062 G A A PHLDB2 PHLDB2:NM_14575 3:exon6:c.G2128A:p. E710K,PHLDB2:NM _001134437:exon7:c nonsynonymo .G2209A:p.E737K,P NA us SNV HLDB2:NM_0011344 38:exon7:c.G2257A: p.E753K,PHLDB2:N M_001134439:exon7 :c.G2257A:p.E753K NA NA 80 0 0% 57 51 47.22% CD200 CD200:NM_0010041 nonsynonymo 96:exon1:c.G3A:p.M NA us SNV 1I,CD200:NM_00594 4:exon1:c.G3A:p.M1I NA NA 53 0 0% 37 12 24.49% NA NA NA 605 0 0% 482 366 43.16% NA NA NA 188 1 0.53% 128 115 47.33% NA NA NA 182 0 0% 141 111 44.05% NA NA NA 77 1 1.28% 60 49 44.95% GTPBP8:NM_01417 0:exon1:c.C301T:p.R 101C,GTPBP8:NM_ 138485:exon1:c.C30 1T:p.R101C MAATS1:NM_03336 4:exon6:c.C515T:p.T 172I GPR156:NM_00116 8271:exon4:c.C397T :p.L133F,GPR156:N M_153002:exon4:c. C397T:p.L133F GOLGB1:NM_00125 6488:exon12:c.T653 0A:p.I2177N,GOLGB 1:NM_001256486:ex on13:c.T6770A:p.I22 57N,GOLGB1:NM_0 01256487:exon13:c. T6653A:p.I2218N,G OLGB1:NM_004487: exon13:c.T6755A:p.I 2252N SLC15A2:NM_00114 5998:exon9:c.T817A :p.F273I,SLC15A2:N M_021082:exon10:c. T910A:p.F304I Index Negative MO_1109 3 112710147 112710147 C T GTPBP8 nonsynonymo us SNV Index Negative MO_1109 3 119434423 119434423 C T MAATS1 nonsynonymo us SNV Index Negative MO_1109 3 119911863 119911863 G A GPR156 nonsynonymo us SNV Index Negative MO_1109 3 121412600 121412600 A T GOLGB1 nonsynonymo us SNV Index Negative MO_1109 3 121641929 121641929 T A SLC15A2 nonsynonymo us SNV NA NA NA 203 0 0% 142 106 42.74% G SLC41A3:NM_00100 8485:exon2:c.T65C: p.L22P,SLC41A3:N nonsynonymo SLC41A3 M_001008486:exon2 NA us SNV :c.T65C:p.L22P,SLC 41A3:NM_017836:ex on2:c.T65C:p.L22P NA NA 271 1 0.37% 230 174 43.07% ID=COSM3 357643;OC CURENCE =1(haemat NA opoietic_a nd_lymphoi d_tissue) NA 715 0 0% 517 311 37.56% NA NA NA 46 0 0% 33 40 54.79% NA NA NA 82 0 0% 85 61 41.78% NA NA NA 169 0 0% 117 106 47.53% NA NA NA 77 0 0% 74 60 44.78% NA NA NA 365 0 0% 253 232 47.84% Index Negative MO_1109 3 125786998 125786998 A ALDH1L1:NM_00127 0365:exon10:c.G112 9A:p.G377R,ALDH1 L1:NM_001270364:e xon12:c.G1462A:p.G 488R,ALDH1L1:NM_ 012190:exon12:c.G1 432A:p.G478R MGLL:NM_0010037 94:exon6:c.T561A:p. N187K,MGLL:NM_0 07283:exon6:c.T591 A:p.N197K EFCC1:NM_024768: exon7:c.G1646A:p.R 549K EFCAB12:NM_2073 07:exon6:c.C1157T: p.S386L STAG1:NM_005862: exon30:c.T3285A:p. D1095E ESYT3:NM_031913: exon18:c.G2095A:p. G699R XRN1:NM_019001:e xon40:c.G4654C:p.A 1552P Index Negative MO_1109 3 125854418 125854418 C T ALDH1L1 nonsynonymo us SNV Index Negative MO_1109 3 127429428 127429428 A T MGLL nonsynonymo us SNV Index Negative MO_1109 3 128757729 128757729 G A EFCC1 nonsynonymo us SNV Index Negative MO_1109 3 129127580 129127580 G A EFCAB12 nonsynonymo us SNV Index Negative MO_1109 3 136062835 136062835 A T STAG1 nonsynonymo us SNV Index Negative MO_1109 3 138191559 138191559 G A ESYT3 nonsynonymo us SNV Index Negative MO_1109 3 142031981 142031981 C G XRN1 nonsynonymo us SNV NA NA NA 60 0 0% 62 41 39.81% XRN1:NM_00128285 7:exon38:c.G4515C: nonsynonymo p.Q1505H,XRN1:NM NA us SNV _019001:exon38:c.G 4512C:p.Q1504H NA rs371570 727 46 0 0% 55 39 41.49% 358 1 0.28% 226 187 45.28% 295 0 0% 166 156 48.45% 174 0 0% 129 76 37.07% Index Negative MO_1109 3 142037635 142037635 C G XRN1 Index Negative MO_1109 3 151161501 151161501 G A IGSF10 Index Negative MO_1109 3 151164717 151164717 C T IGSF10 Index Negative MO_1109 3 155199749 155199749 C T PLCH1 IGSF10:NM_178822: nonsynonymo exon5:c.C5234T:p.P NA NA NA us SNV 1745L ID=COSM2 06529;OC IGSF10:NM_178822: CURENCE nonsynonymo rs372539 exon4:c.G3052A:p.G =1(large_in 0.0003994 us SNV 492 1018R testine),1(o esophagus ) PLCH1:NM_014996: exon22:c.G3976A:p. nonsynonymo G1326R,PLCH1:NM NA us SNV _001130960:exon23: c.G4090A:p.G1364R NA NA Index Negative MO_1109 3 155551734 155551734 G A SLC33A1:NM_00119 0992:exon3:c.C1060 nonsynonymo SLC33A1 T:p.P354S,SLC33A1 NA us SNV :NM_004733:exon3: c.C1060T:p.P354S VEPH1:NM_001167 911:exon7:c.G1118A :p.G373E,VEPH1:N M_001167912:exon7 :c.G1118A:p.G373E, VEPH1:NM_024621: exon7:c.G1118A:p.G 373E SERPINI2:NM_0062 17:exon3:c.A465C:p. E155D,SERPINI2:N M_001012303:exon4 :c.A495C:p.E165D TNFSF10:NM_00381 0:exon5:c.G669A:p. M223I PIK3CA:NM_006218 :exon4:c.T716G:p.L2 39R ATP11B:NM_014616 :exon20:c.G2344A:p. E782K KLHL6:NM_130446: exon2:c.A346G:p.K1 16E NA NA 44 0 0% 34 24 41.38% NA NA NA 120 0 0% 102 79 43.65% NA NA NA 80 0 0% 42 30 41.67% NA NA NA 113 0 0% 76 52 40.62% NA NA NA 111 0 0% 102 90 46.88% NA NA NA 31 0 0% 23 16 41.03% 69 0 0% 68 50 42.37% Index Negative MO_1109 3 157098954 157098954 C T VEPH1 nonsynonymo us SNV Index Negative MO_1109 3 167184856 167184856 T G SERPINI2 nonsynonymo us SNV Index Negative MO_1109 3 172224459 172224459 C T TNFSF10 nonsynonymo us SNV Index Negative MO_1109 3 178919231 178919231 T G PIK3CA nonsynonymo us SNV Index Negative MO_1109 3 182597375 182597375 G A ATP11B nonsynonymo us SNV Index Negative MO_1109 3 183245746 183245746 T C KLHL6 nonsynonymo us SNV NA NA NA ECE2 ECE2:NM_00103732 4:exon13:c.G1468A: p.E490K,ECE2:NM_ 001100120:exon14:c nonsynonymo .G1693A:p.E565K,E NA us SNV CE2:NM_001100121 :exon14:c.G1555A:p. E519K,ECE2:NM_01 4693:exon14:c.G190 9A:p.E637K NA rs142884 324 137 0 0% 102 89 46.60% EIF4G1 EIF4G1:NM_004953: exon2:c.T98A:p.I33N ,EIF4G1:NM_198242 :exon5:c.T194A:p.I6 5N,EIF4G1:NM_198 244:exon6:c.T425A: p.I142N,EIF4G1:NM _182917:exon8:c.T6 nonsynonymo 86A:p.I229N,EIF4G1 NA us SNV :NM_001194947:exo n9:c.T707A:p.I236N, EIF4G1:NM_001291 157:exon9:c.T566A: p.I189N,EIF4G1:NM _198241:exon9:c.T6 86A:p.I229N,EIF4G1 :NM_001194946:exo n10:c.T707A:p.I236N NA NA 116 0 0% 89 82 47.95% ZNF718 ZNF718:NM_001039 127:exon5:c.C1396T nonsynonymo :p.L466F,ZNF718:N NA us SNV M_001289931:exon5 :c.C1300T:p.L434F NA NA 64 0 0% 43 32 42.67% ZNF732 ZNF732:NM_001137 nonsynonymo 608:exon3:c.C1567T NA us SNV :p.H523Y NA NA 14 0 0% 13 13 WHSC1:NM_001042 424:exon16:c.G2929 A:p.E977K,WHSC1: NM_133335:exon16: nonsynonymo c.G2929A:p.E977K, NA us SNV WHSC1:NM_133331 :exon17:c.G2929A:p. E977K,WHSC1:NM_ 133330:exon18:c.G2 929A:p.E977K NA NA 47 0 0% 36 27 42.86% NA NA 94 0 0% 77 62 44.60% NA NA 95 0 0% 84 62 42.47% rs201299 874 149 0 0% 127 61 32.45% NA NA 140 0 0% 106 74 41.11% ID=COSM3 CC2D2A:NM_00108 428262;OC nonsynonymo 0522:exon30:c.G365 CURENCE NA us SNV 3A:p.R1218Q =1(large_in testine) NA 36 0 0% 42 24 36.36% Index Index Index Index Negative MO_1109 Negative MO_1109 Negative MO_1109 Negative MO_1109 3 184008046 184008046 G 3 184038770 184038770 T 4 4 155871 265076 155871 C 265076 G A A T A Index Negative MO_1109 4 1959707 1959707 G A WHSC1 Index Negative MO_1109 4 2172461 2172461 C T POLN Index Negative MO_1109 4 3190818 3190818 C T Index Negative MO_1109 4 10446583 10446583 G A Index Negative MO_1109 4 13605651 13605651 G A Index Negative MO_1109 4 15575831 15575831 G A POLN:NM_181808:e nonsynonymo xon11:c.G1499A:p.R NA us SNV 500K HTT:NM_002111:ex nonsynonymo HTT on40:c.C5366T:p.S1 NA us SNV 789F ID=COSM1 ZNF518B:NM_05304 049701;OC nonsynonymo ZNF518B 2:exon3:c.C1370T:p. CURENCE us SNV S457L =1(endome trium) BOD1L1:NM_14889 nonsynonymo BOD1L1 4:exon10:c.C2873T: NA us SNV p.S958F CC2D2A 0.0003994 50% Index Negative MO_1109 4 46125833 46125833 C T ID=COSM1 GABRG1:NM_17353 nonsynonymo 694318;OC GABRG1 6:exon1:c.G98A:p.G NA us SNV CURENCE 33E =1(skin) Index Negative MO_1109 4 48140936 48140936 C T TEC TEC:NM_003215:ex nonsynonymo on16:c.G1639A:p.D5 NA us SNV 47N NA NA 236 0 0% 156 136 46.58% A CABS1 ID=COSM1 057052;OC CURENCE CABS1:NM_033122: =1(central_ nonsynonymo exon1:c.G250A:p.D8 nervous_sy NA us SNV 4N stem),1(en dometrium) ,1(large_int estine) NA 122 0 0% 89 70 44.03% NA NA 84 0 0% 78 47 37.60% nonsynonymo AFP:NM_001134:ex NA us SNV on4:c.C274T:p.P92S NA NA 93 0 0% 63 43 40.57% NA NA NA 225 0 0% 177 144 44.86% NA NA NA 74 0 0% 71 44 38.26% NA NA NA 294 0 0% 202 165 44.96% NA NA NA 115 1 0.86% 93 63 40.38% ID=COSM1 694657;OC NA CURENCE =1(skin) NA 122 0 0% 88 74 45.68% NA NA NA 31 0 0% 15 16 51.61% NA NA NA 56 0 0% 38 14 26.92% NA NA NA 90 0 0% 66 31 31.96% NA NA NA 429 1 0.23% 280 196 41.18% NA NA NA 625 0 0% 622 NA NA NA 51 0 0% 51 Index Negative MO_1109 4 71201006 71201006 G Index Negative MO_1109 4 73188793 73188793 C T ADAMTS3:NM_0142 ADAMTS nonsynonymo 43:exon6:c.G883A:p. NA 3 us SNV E295K Index Negative MO_1109 4 74306322 74306322 C T AFP Index Negative MO_1109 4 77817720 77817720 C T SOWAHB Index Negative MO_1109 4 83978511 83978511 G A Index Negative MO_1109 4 86916612 86916612 C T Index Negative MO_1109 4 87696664 87696664 C T Index Negative MO_1109 4 88767212 G A Index Negative MO_1109 4 100237457 100237457 C T Index Negative MO_1109 4 100477319 100477319 C T Index Negative MO_1109 4 122743688 122743688 T A Index Negative MO_1109 4 126411869 126411869 C T Index Negative MO_1109 4 134071725 134071725 G A Index Negative MO_1109 4 139101911 139101911 C T 88767212 SOWAHB:NM_0010 nonsynonymo 29870:exon1:c.G128 us SNV 3A:p.G428E COPS4:NM_001258 006:exon6:c.G665A: nonsynonymo COPS4 p.R222K,COPS4:NM us SNV _016129:exon6:c.G6 65A:p.R222K ARHGAP24:NM_031 305:exon6:c.C1526T :p.S509F,ARHGAP2 4:NM_001042669:ex on7:c.C1520T:p.S50 ARHGAP nonsynonymo 7F,ARHGAP24:NM_ 24 us SNV 001287805:exon7:c. C1550T:p.S517F,AR HGAP24:NM_00102 5616:exon9:c.C1805 T:p.S602F PTPN13:NM_080684 :exon32:c.C5177T:p. S1726F,PTPN13:NM _006264:exon34:c.C nonsynonymo 5693T:p.S1898F,PT PTPN13 us SNV PN13:NM_080683:e xon35:c.C5750T:p.S 1917F,PTPN13:NM_ 080685:exon35:c.C5 765T:p.S1922F MEPE:NM_0011846 94:exon4:c.G1192A: p.E398K,MEPE:NM_ 001291183:exon4:c. G1285A:p.E429K,M EPE:NM_020203:ex on4:c.G1192A:p.E39 nonsynonymo MEPE 8K,MEPE:NM_00118 us SNV 4695:exon5:c.G853A :p.E285K,MEPE:NM _001184696:exon5:c .G853A:p.E285K,ME PE:NM_001184697: exon6:c.G853A:p.E2 85K ADH1B:NM_000668: exon4:c.G262A:p.D8 nonsynonymo ADH1B 8N,ADH1B:NM_0012 us SNV 86650:exon5:c.G142 A:p.D48N TRMT10A:NM_0011 34665:exon5:c.G479 A:p.G160E,TRMT10 nonsynonymo A:NM_001134666:ex TRMT10A us SNV on5:c.G479A:p.G160 E,TRMT10A:NM_15 2292:exon5:c.G479A :p.G160E CCNA2:NM_001237: nonsynonymo CCNA2 exon2:c.A327T:p.E1 us SNV 09D FAT4:NM_00129128 5:exon17:c.C13895T :p.S4632L,FAT4:NM nonsynonymo _001291303:exon17: FAT4 us SNV c.C13898T:p.S4633L ,FAT4:NM_024582:e xon17:c.C13892T:p. S4631L PCDH10:NM_02081 5:exon1:c.G430A:p. nonsynonymo PCDH10 E144K,PCDH10:NM us SNV _032961:exon1:c.G4 30A:p.E144K SLC7A11:NM_01433 nonsynonymo SLC7A11 1:exon10:c.G1150A: us SNV p.D384N NA 115 0 0% 81 50 38.17% 31 4.75% 40 43.96% NR3C2:NM_001166 104:exon5:c.C2094A :p.S698R,NR3C2:N M_000901:exon6:c. C2445A:p.S815R ASIC5:NM_017419:e xon4:c.G614A:p.G20 5E GRIA2:NM_000826: exon10:c.G1331A:p. G444D,GRIA2:NM_0 01083619:exon10:c. G1331A:p.G444D,G RIA2:NM_00108362 0:exon10:c.G1190A: p.G397D PALLD:NM_0011661 09:exon6:c.C280G:p. R94G,PALLD:NM_0 01166108:exon7:c.C 1426G:p.R476G,PAL LD:NM_016081:exon 7:c.C1426G:p.R476 G TENM3:NM_001080 477:exon15:c.C2925 A:p.F975L TENM3:NM_001080 477:exon22:c.G4981 A:p.V1661M MED10:NM_032286: exon1:c.A32C:p.H11 P CMBL:NM_138809:e xon5:c.C548T:p.P18 3L CTNND2:NM_00128 8716:exon5:c.G199A :p.G67R,CTNND2:N M_001288715:exon7 :c.G937A:p.G313R,C TNND2:NM_001332: exon8:c.G1210A:p.G 404R DNAH5:NM_001369: exon56:c.G9460A:p. D3154N MYO10:NM_012334: exon26:c.G3497T:p. R1166L CDH6:NM_004932:e xon3:c.G281A:p.G94 E Index Negative MO_1109 4 149073685 149073685 G T NR3C2 nonsynonymo us SNV Index Negative MO_1109 4 156773440 156773440 C T ASIC5 nonsynonymo us SNV Index Negative MO_1109 4 158256887 158256887 G A GRIA2 nonsynonymo us SNV Index Negative MO_1109 4 169611844 169611844 C G PALLD nonsynonymo us SNV Index Negative MO_1109 4 183652250 183652250 C A TENM3 nonsynonymo us SNV Index Negative MO_1109 4 183694713 183694713 G A TENM3 nonsynonymo us SNV Index Negative MO_1109 5 6378565 6378565 T G MED10 nonsynonymo us SNV Index Negative MO_1109 5 10282319 10282319 G A CMBL nonsynonymo us SNV Index Negative MO_1109 5 11364970 11364970 C T CTNND2 nonsynonymo us SNV Index Negative MO_1109 5 13771003 13771003 C T DNAH5 nonsynonymo us SNV Index Negative MO_1109 5 16699618 16699618 C A MYO10 nonsynonymo us SNV Index Negative MO_1109 5 31294121 31294121 G A CDH6 nonsynonymo us SNV ID=COSM1 CDH6:NM_004932:e nonsynonymo 09450;OC xon12:c.C2089T:p.L NA us SNV CURENCE 697F =1(skin) Index Negative MO_1109 5 31323131 31323131 C T CDH6 Index Negative MO_1109 5 35876469 35876469 C T IL7R Index Negative MO_1109 5 37010218 37010218 C T NIPBL Index Negative MO_1109 5 37120401 37120401 C T C5orf42 Index Negative MO_1109 5 39074473 39074473 C T RICTOR Index Negative MO_1109 5 40853842 40853842 C T CARD6 Index Negative MO_1109 5 79284433 79284433 A G MTX3 Index Negative MO_1109 5 82816178 82816178 G A VCAN Index Negative MO_1109 5 82817240 82817240 G A VCAN Index Negative MO_1109 5 90012359 90012359 G A GPR98 Index Negative MO_1109 5 108203611 108203611 G A FER IL7R:NM_002185:ex nonsynonymo on8:c.C1261T:p.L42 us SNV 1F NIPBL:NM_015384:e xon21:c.C4451T:p.P nonsynonymo 1484L,NIPBL:NM_13 us SNV 3433:exon21:c.C445 1T:p.P1484L C5orf42:NM_023073 nonsynonymo :exon49:c.G9065A:p. us SNV G3022E RICTOR:NM_00128 5439:exon1:c.G7A:p. nonsynonymo A3T,RICTOR:NM_15 us SNV 2756:exon1:c.G7A:p. A3T NA NA NA 119 0 0% 88 61 40.94% NA NA NA 49 0 0% 42 37 46.84% NA NA NA 142 0 0% 114 NA NA NA 54 0 0% 39 38 49.35% NA NA NA 179 0 0% 121 94 43.72% NA NA NA 211 1 0.47% 163 143 46.73% NA NA NA 387 0 0% 266 185 41.02% NA NA NA 80 0 0% 64 47 42.34% NA NA NA 142 0 0% 88 87 49.71% NA NA NA 204 1 0.49% 168 118 41.26% NA NA NA 128 0 0% 95 60 38.71% NA NA NA 117 0 0% 85 67 44.08% rs149310 360 449 1 0.22% 299 192 39.10% 1 0.47% 161 104 39.25% 76 40% NA NA NA 213 NA NA NA 46 0 0% 42 36 46.15% NA NA rs376064 818 78 0 0% 68 41 37.61% NA NA NA 58 0 0% 27 54 66.67% NA 122 0 0% 86 57 39.86% NA 125 0 0% 131 114 46.53% NA 77 0 0% 72 55 43.31% NA 101 0 0% 67 56 45.53% NA 131 0 0% 88 56 38.89% NA 74 0 0% 60 48 44.44% ID=COSM2 CARD6:NM_032587: 43480;OC nonsynonymo exon3:c.C2408T:p.S CURENCE NA us SNV 803F =1(prostate ) MTX3:NM_00116774 1:exon4:c.T173C:p.F nonsynonymo 58S,MTX3:NM_0010 NA NA us SNV 10891:exon5:c.T356 C:p.F119S VCAN:NM_0011640 98:exon7:c.G2053A: nonsynonymo p.E685K,VCAN:NM_ NA NA us SNV 004385:exon7:c.G20 53A:p.E685K VCAN:NM_0011640 98:exon7:c.G3115A: nonsynonymo p.E1039K,VCAN:NM NA NA us SNV _004385:exon7:c.G3 115A:p.E1039K GPR98:NM_032119: nonsynonymo exon43:c.G9260A:p. NA NA us SNV R3087K FER:NM_005246:ex nonsynonymo on6:c.G625A:p.D209 NA NA us SNV N Index Index Negative MO_1109 Negative MO_1109 5 125919689 125919689 G 5 126753418 126753418 G C ALDH7A1:NM_0011 82:exon4:c.C328G:p. R110G,ALDH7A1:N nonsynonymo M_001201377:exon4 ALDH7A1 NA us SNV :c.C244G:p.R82G,AL DH7A1:NM_0012024 04:exon4:c.C409G:p. R137G NA NA 60 0 0% 34 29 46.03% A MEGF10:NM_00125 6545:exon10:c.G121 nonsynonymo 9A:p.E407K,MEGF1 NA us SNV 0:NM_032446:exon1 1:c.G1219A:p.E407K NA NA 150 0 0% 107 81 43.09% NA NA NA 35 0 0% 34 22 39.29% NA NA NA 30 0 0% 35 17 32.69% NA NA NA 44 0 0% 34 36 51.43% NA NA NA 235 0 0% 225 175 43.75% NA NA NA 98 0 0% 94 59 38.56% NA NA NA 222 0 0% 198 144 42.11% NA NA NA 30 0 0% 26 27 50.94% NA NA NA 167 0 0% 123 83 40.29% MEGF10 Index Negative MO_1109 5 127518621 127518621 C T SLC12A2 nonsynonymo us SNV Index Negative MO_1109 5 132262827 132262827 G A AFF4 nonsynonymo us SNV Index Negative MO_1109 5 133685971 133685971 C T CDKL3 nonsynonymo us SNV Index Negative MO_1109 5 134782651 134782651 C T DCANP1 nonsynonymo us SNV Index Negative MO_1109 5 135549281 135549281 C T TRPC7 nonsynonymo us SNV Index Negative MO_1109 5 137518290 137518290 G A KIF20A nonsynonymo us SNV Index Negative MO_1109 5 140176993 140176993 A G PCDHA2 nonsynonymo us SNV SLC12A2:NM_00125 6461:exon23:c.C323 9T:p.P1080L,SLC12 A2:NM_001046:exon 24:c.C3287T:p.P109 6L AFF4:NM_014423:ex on5:c.C1036T:p.P34 6S CDKL3:NM_0011135 75:exon4:c.G508A:p. E170K,CDKL3:NM_0 16508:exon4:c.G508 A:p.E170K DCANP1:NM_13084 8:exon1:c.G148A:p. G50R TRPC7:NM_001167 576:exon10:c.G2083 A:p.E695K,TRPC7:N M_001167577:exon1 1:c.G2248A:p.E750K ,TRPC7:NM_020389 :exon12:c.G2431A:p. E811K KIF20A:NM_005733: exon6:c.G530A:p.G1 77E PCDHA2:NM_03149 5:exon1:c.A2444G:p. Y815C PCDHAC1:NM_0188 98:exon4:c.G2845A: p.E949K,PCDHAC2: NM_018899:exon4:c .G2977A:p.E993K,P CDHA1:NM_018900: exon4:c.G2806A:p.E 936K,PCDHA10:NM _018901:exon4:c.G2 800A:p.E934K,PCD HA11:NM_018902:e xon4:c.G2803A:p.E9 35K,PCDHA12:NM_ 018903:exon4:c.G27 79A:p.E927K,PCDH A13:NM_018904:exo n4:c.G2806A:p.E936 K,PCDHA2:NM_018 905:exon4:c.G2800A :p.E934K,PCDHA3:N M_018906:exon4:c. G2806A:p.E936K,PC DHA4:NM_018907:e xon4:c.G2797A:p.E9 33K,PCDHA5:NM_0 18908:exon4:c.G276 4A:p.E922K,PCDHA 6:NM_018909:exon4 :c.G2806A:p.E936K, PCDHB13:NM_0189 33:exon1:c.C2327T: p.P776L Index Negative MO_1109 5 140389475 140389475 G A PCDHA1, PCDHA10 ,PCDHA1 1,PCDHA 12,PCDH A13,PCD HA2,PCD HA3,PCD nonsynonymo HA4,PCD us SNV HA5,PCD HA6,PCD HA7,PCD HA8,PCD HA9,PCD HAC1,PC DHAC2 Index Negative MO_1109 5 140596022 140596022 C T PCDHB13 NA NA NA 148 0 0% 142 91 39.06% T PCDHGA4:NM_0189 17:exon1:c.C1795T: PCDHGA nonsynonymo p.P599S,PCDHGA4: NA 4 us SNV NM_032053:exon1:c .C1795T:p.P599S NA NA 759 1 0.13% 517 393 43.19% NA NA 548 0 0% 390 314 44.60% NA NA 373 0 0% 256 203 44.23% NA NA 364 0 0% 318 202 38.85% Index Negative MO_1109 5 140736469 140736469 C Index Negative MO_1109 5 140736727 140736727 C T Index Negative MO_1109 5 140789406 140789406 T A Index Negative MO_1109 5 141336563 141336563 T C nonsynonymo us SNV PCDHGA4:NM_0189 17:exon1:c.C2053T: PCDHGA nonsynonymo p.L685F,PCDHGA4: NA 4 us SNV NM_032053:exon1:c .C2053T:p.L685F PCDHGB6:NM_0189 26:exon1:c.T1637A: PCDHGB nonsynonymo p.V546E,PCDHGB6: NA 6 us SNV NM_032100:exon1:c .T1637A:p.V546E PCDH12:NM_01658 nonsynonymo PCDH12 0:exon1:c.A854G:p. NA us SNV K285R Index Negative MO_1109 5 147928360 147928360 G A HTR4 HTR4:NM_00104016 9:exon3:c.C224T:p.P 75L,HTR4:NM_0010 40172:exon3:c.C224 T:p.P75L,HTR4:NM_ 001040173:exon3:c. C224T:p.P75L,HTR4 :NM_001286410:exo n3:c.C224T:p.P75L, HTR4:NM_199453:e xon3:c.C224T:p.P75 L,HTR4:NM_000870: exon4:c.C224T:p.P7 5L G3BP1:NM_005754: exon3:c.C116T:p.S3 9F,G3BP1:NM_1983 95:exon3:c.C116T:p. S39F HAND1:NM_004821: exon2:c.C565T:p.P1 89S NIPAL4:NM_001099 287:exon2:c.C412T: p.L138F,NIPAL4:NM _001172292:exon2:c .C412T:p.L138F GABRA1:NM_00112 7648:exon7:c.C799T :p.L267F,GABRA1:N M_001127644:exon8 :c.C799T:p.L267F,G ABRA1:NM_001127 645:exon8:c.C799T: p.L267F,GABRA1:N M_000806:exon9:c. C799T:p.L267F,GAB RA1:NM_001127643 :exon9:c.C799T:p.L2 67F ID=COSM1 696525,CO SM169652 8,COSM16 96526,CO NA SM169652 7;OCCUR ENCE=1(s kin) NA 111 0 0% 73 65 47.10% ID=COSM4 20823;OC CURENCE NA =1(urinary_ tract) NA 58 0 0% 43 39 47.56% NA NA NA 57 0 0% 53 25 32.05% NA NA NA 137 0 0% 77 58 42.96% NA NA NA 138 0 0% 88 65 42.48% ID=COSM1 718923;OC NA CURENCE =2(NS) NA 207 1 0.48% 109 76 41.08% NA NA NA 62 0 0% 46 38 45.24% NA NA NA 217 0 0% 151 112 42.59% NA NA NA 121 0 0% 88 64 42.11% NA NA NA 627 1 0.16% 454 436 48.99% NA NA NA 190 0 0% 151 130 46.26% NA NA NA 188 0 0% 150 127 45.85% CAGE1:NM_205864: exon3:c.C242T:p.A8 1V,CAGE1:NM_0011 nonsynonymo 70692:exon4:c.C650 NA us SNV T:p.A217V,CAGE1:N M_001170693:exon4 :c.C650T:p.A217V NA NA 58 0 0% 48 38 44.19% NA NA NA 337 1 0.30% 227 166 42.24% NA NA NA 258 0 0% 163 128 43.99% NA NA NA 177 0 0% 115 95 45.24% NA NA NA 68 0 0% 37 31 45.59% NA NA NA 371 0 0% 302 234 43.66% nonsynonymo us SNV Index Negative MO_1109 5 151169904 151169904 C T G3BP1 nonsynonymo us SNV Index Negative MO_1109 5 153855449 153855449 G A HAND1 nonsynonymo us SNV Index Negative MO_1109 5 156890290 156890290 C T NIPAL4 nonsynonymo us SNV Index Negative MO_1109 5 161317999 161317999 C T GABRA1 nonsynonymo us SNV GABRA1:NM_00112 7648:exon9:c.C1130 T:p.P377L,GABRA1: NM_001127644:exo n10:c.C1130T:p.P37 7L,GABRA1:NM_001 nonsynonymo 127645:exon10:c.C1 us SNV 130T:p.P377L,GABR A1:NM_000806:exon 11:c.C1130T:p.P377 L,GABRA1:NM_0011 27643:exon11:c.C11 30T:p.P377L Index Negative MO_1109 5 161324187 161324187 C T GABRA1 Index Negative MO_1109 5 167921560 167921560 A T RARS Index Negative MO_1109 5 170232843 170232843 C T GABRP Index Negative MO_1109 5 176477934 176477934 C T ZNF346 Index Negative MO_1109 5 178413901 178413901 C T GRM6 Index Negative MO_1109 5 180277581 180277581 C T ZFP62 Index Negative MO_1109 5 180277597 180277597 T C ZFP62 Index Negative MO_1109 6 7378887 7378887 G A Index Negative MO_1109 6 26123915 26123915 C A Index Negative MO_1109 6 28962945 28962945 C T Index Negative MO_1109 6 29395399 29395399 C T Index Negative MO_1109 6 30043070 30043070 G A Index Negative MO_1109 6 30523354 30523354 G A CAGE1 RARS:NM_002887:e nonsynonymo xon5:c.A484T:p.I162 us SNV F GABRP:NM_001291 985:exon7:c.C665T: nonsynonymo p.S222L,GABRP:NM us SNV _014211:exon7:c.C6 65T:p.S222L ZNF346:NM_012279 nonsynonymo :exon5:c.C700T:p.P2 us SNV 34S GRM6:NM_000843:e nonsynonymo xon7:c.G1438A:p.G4 us SNV 80S ZFP62:NM_0011726 38:exon2:c.G914A:p. nonsynonymo G305D,ZFP62:NM_1 us SNV 52283:exon3:c.G815 A:p.G272D ZFP62:NM_0011726 38:exon2:c.A898G:p. nonsynonymo K300E,ZFP62:NM_1 us SNV 52283:exon3:c.A799 G:p.K267E HIST1H2BC:NM_00 HIST1H2 nonsynonymo 3526:exon1:c.G218T BC us SNV :p.R73L ZNF311:NM_001010 nonsynonymo ZNF311 877:exon7:c.G1834A us SNV :p.E612K OR11A1:NM_01393 nonsynonymo OR11A1 7:exon1:c.G20A:p.G us SNV 7E RNF39:NM_025236: exon1:c.C497T:p.P1 nonsynonymo RNF39 66L,RNF39:NM_170 us SNV 769:exon1:c.C497T: p.P166L GNL1:NM_005275:e nonsynonymo GNL1 xon2:c.C217T:p.P73 us SNV S Index Negative MO_1109 6 32036482 32036482 G A Index Negative MO_1109 6 32036784 32036784 C T Index Negative MO_1109 6 32805917 32805917 G A Index Negative MO_1109 6 32821343 32821343 C T Index Negative MO_1109 6 33246149 33246149 C T Index Negative MO_1109 6 33290663 33290663 C T Index Negative MO_1109 6 33374196 33374196 G A Index Negative MO_1109 6 35586971 35586971 A C Index Negative MO_1109 6 36076216 36076216 G A Index Negative MO_1109 6 36690139 36690139 G A Index Negative MO_1109 6 36983613 36983613 C T Index Negative MO_1109 6 39047369 39047369 C T Index Negative MO_1109 6 39563937 39563937 G A Index Negative MO_1109 6 41773443 41773443 G A Index Negative MO_1109 6 43403613 43403613 C T Index Negative MO_1109 6 43476518 43476518 G A Index Negative MO_1109 6 46632602 46632602 G A Index Negative MO_1109 6 46777274 46777274 G A Index Negative MO_1109 6 49754429 49754429 C T Index Negative MO_1109 6 52268753 52268753 C T Index Negative MO_1109 6 56336990 56336990 G A Index Negative MO_1109 6 70071276 70071276 G A Index Negative MO_1109 6 70873245 70873245 G A TNXB:NM_019105:e nonsynonymo xon17:c.C5905T:p.P NA us SNV 1969S TNXB:NM_019105:e nonsynonymo TNXB xon16:c.G5717A:p.G NA us SNV 1906E ID=COSM4 TAP2:NM_00129004 61801,CO 3:exon2:c.C94T:p.P3 nonsynonymo SM461802; TAP2 2S,TAP2:NM_01883 us SNV OCCUREN 3:exon2:c.C94T:p.P3 CE=1(cervi 2S x) TAP1:NM_000593:e nonsynonymo TAP1 xon1:c.G251A:p.G84 NA us SNV E B3GALT4:NM_0037 nonsynonymo B3GALT4 82:exon1:c.C953T:p. NA us SNV P318L DAXX:NM_00114197 nonsynonymo DAXX 0:exon1:c.G29A:p.G NA us SNV 10D KIFC1:NM_002263:e nonsynonymo KIFC1 xon8:c.G1760A:p.R5 NA us SNV 87Q FKBP5:NM_0011457 76:exon5:c.T410G:p. F137C,FKBP5:NM_0 01145777:exon5:c.T nonsynonymo 410G:p.F137C,FKBP FKBP5 NA us SNV 5:NM_004117:exon5 :c.T410G:p.F137C,F KBP5:NM_00114577 5:exon6:c.T410G:p.F 137C MAPK14:NM_00131 5:exon12:c.G1075A: nonsynonymo MAPK14 p.E359K,MAPK14:N NA us SNV M_139012:exon12:c. G1075A:p.E359K RAB44:NM_0012573 nonsynonymo RAB44 57:exon9:c.G2228A: NA us SNV p.R743K FGD2:NM_173558:e nonsynonymo FGD2 xon9:c.C1099T:p.R3 NA us SNV 67C GLP1R:NM_002062: nonsynonymo GLP1R exon11:c.C1073T:p. NA us SNV P358L KIF6:NM_001289020 :exon7:c.C739T:p.H2 47Y,KIF6:NM_00128 nonsynonymo KIF6 9021:exon7:c.C739T NA us SNV :p.H247Y,KIF6:NM_1 45027:exon7:c.C739 T:p.H247Y USP49:NM_0012865 54:exon2:c.C1279T: nonsynonymo USP49 p.P427S,USP49:NM NA us SNV _018561:exon4:c.C1 279T:p.P427S ABCC10:NM_03345 0:exon3:c.C1604T:p. nonsynonymo ABCC10 P535L,ABCC10:NM_ NA us SNV 001198934:exon5:c. C1733T:p.P578L LRRC73:NM_00101 2974:exon2:c.C413T nonsynonymo LRRC73 :p.P138L,LRRC73:N NA us SNV M_001271882:exon2 :c.C44T:p.P15L SLC25A27:NM_0012 04051:exon5:c.G598 A:p.A200T,SLC25A2 SLC25A2 nonsynonymo 7:NM_001204052:ex NA 7 us SNV on5:c.G598A:p.A200 T,SLC25A27:NM_00 4277:exon5:c.G598A :p.A200T MEP1A:NM_005588: nonsynonymo MEP1A exon6:c.G380A:p.G1 NA us SNV 27E PGK2:NM_138733:e nonsynonymo PGK2 xon1:c.G472A:p.G15 NA us SNV 8R PAQR8:NM_133367: nonsynonymo PAQR8 exon2:c.C742T:p.H2 NA us SNV 48Y DST:NM_015548:ex on75:c.C14156T:p.P 4719L,DST:NM_183 380:exon85:c.C1513 nonsynonymo 4T:p.P5045L,DST:N DST NA us SNV M_001144770:exon8 6:c.C15254T:p.P508 5L,DST:NM_001144 769:exon88:c.C1566 8T:p.P5223L BAI3:NM_001704:ex nonsynonymo BAI3 on29:c.G4111A:p.E1 NA us SNV 371K COL19A1:NM_0018 nonsynonymo COL19A1 58:exon36:c.G2357A NA us SNV :p.G786E TNXB NA NA 311 0 0% 295 231 43.92% NA NA 380 0 0% 340 205 37.61% NA NA 167 0 0% 158 98 38.28% NA NA 566 0 0% 500 314 38.57% NA NA 514 0 0% 373 308 45.23% NA NA 170 0 0% 129 123 48.81% NA rs373354 333 232 0 0% 227 201 46.96% NA NA 48 0 0% 44 41 48.24% NA NA 340 0 0% 252 209 45.34% NA NA 434 1 0.23% 386 308 44.38% NA NA 87 1 1.14% 59 65 52.42% NA rs199818 129 161 0 0% 114 107 48.42% NA NA 139 0 0% 99 79 44.38% NA NA 136 0 0% 129 85 39.72% NA NA 255 0 0% 244 171 41.20% NA NA 252 0 0% 204 133 39.47% NA NA 52 0 0% 31 35 53.03% NA NA 92 0 0% 56 38 40.43% NA NA 349 0 0% 281 165 NA NA 315 0 0% 202 165 44.96% NA NA 195 0 0% 117 105 47.30% NA NA 233 1 0.43% 138 129 48.31% NA NA 66 66 30 31.25% 0 0% 37% Index Negative MO_1109 6 70965085 70965085 T A COL9A1 Index Negative MO_1109 6 76063430 76063430 C T FILIP1 Index Index Negative MO_1109 Negative MO_1109 6 6 83839935 83877609 83839935 C 83877609 G T A COL9A1:NM_07848 5:exon16:c.A783T:p. nonsynonymo Q261H,COL9A1:NM NA us SNV _001851:exon22:c.A 1512T:p.Q504H FILIP1:NM_015687:e xon4:c.G454A:p.D15 nonsynonymo 2N,FILIP1:NM_0012 NA us SNV 89987:exon5:c.G463 A:p.D155N NA NA 48 0 0% 48 38 44.19% NA NA 125 0 0% 93 75 44.64% DOPEY1 DOPEY1:NM_00119 9942:exon17:c.C240 nonsynonymo 8T:p.S803L,DOPEY NA us SNV 1:NM_015018:exon1 7:c.C2435T:p.S812L NA NA 164 0 0% 127 89 41.20% DOPEY1 DOPEY1:NM_01501 8:exon39:c.G7121A: nonsynonymo p.R2374K,DOPEY1: NA us SNV NM_001199942:exo n40:c.G7154A:p.R23 85K NA NA 148 0 0% 96 60 38.46% ID=COSM1 TBX18:NM_0010805 nonsynonymo 697601;OC 08:exon8:c.C1457T: NA us SNV CURENCE p.S486F =1(skin) NA 301 0 0% 165 133 44.63% Index Negative MO_1109 6 85446770 85446770 G A TBX18 Index Negative MO_1109 6 87967273 87967273 T A ZNF292 Index Negative MO_1109 6 88757786 88757786 G A Index Negative MO_1109 6 88854696 88854696 C T Index Negative MO_1109 6 97580541 97580541 C T Index Negative MO_1109 6 102503343 102503343 T C Index Negative MO_1109 6 117043333 117043333 T G Index Negative MO_1109 6 119345360 119345360 C T Index Negative MO_1109 6 132199689 132199689 C A Index Negative MO_1109 6 138638480 138638480 C T Index Negative MO_1109 6 147103284 147103284 G A Index Negative MO_1109 6 151152316 151152316 C T Index Negative MO_1109 6 157527316 157527316 G A Index Negative MO_1109 6 158923025 158923025 C T ZNF292:NM_015021 nonsynonymo :exon8:c.T3926A:p.F us SNV 1309Y SPACA1:NM_03096 nonsynonymo SPACA1 0:exon1:c.G163A:p. us SNV D55N CNR1:NM_0011602 59:exon2:c.G298A:p. E100K,CNR1:NM_01 6083:exon2:c.G298A :p.E100K,CNR1:NM_ nonsynonymo 033181:exon2:c.G19 CNR1 us SNV 9A:p.E67K,CNR1:N M_001160226:exon3 :c.G298A:p.E100K,C NR1:NM_001160258 :exon4:c.G298A:p.E 100K KLHL32:NM_001286 251:exon8:c.C1412T :p.S471F,KLHL32:N M_001286254:exon8 nonsynonymo :c.C227T:p.S76F,KL KLHL32 us SNV HL32:NM_00128625 0:exon9:c.C1511T:p. S504F,KLHL32:NM_ 052904:exon10:c.C1 619T:p.S540F GRIK2:NM_0011662 47:exon15:c.T2450C :p.V817A,GRIK2:NM nonsynonymo _021956:exon15:c.T GRIK2 us SNV 2450C:p.V817A,GRI K2:NM_175768:exon 15:c.T2450C:p.V817 A KPNA5:NM_002269: nonsynonymo KPNA5 exon9:c.T801G:p.S2 us SNV 67R FAM184A:NM_0011 00411:exon2:c.G418 A:p.E140K,FAM184 nonsynonymo A:NM_001288576:ex FAM184A us SNV on2:c.G418A:p.E140 K,FAM184A:NM_024 581:exon2:c.G778A: p.E260K ENPP1:NM_006208: nonsynonymo ENPP1 exon19:c.C1901A:p. us SNV P634Q KIAA1244:NM_0203 nonsynonymo KIAA1244 40:exon27:c.C4438T us SNV :p.L1480F ADGB:NM_024694:e nonsynonymo ADGB xon30:c.G3991A:p.E us SNV 1331K PLEKHG1:NM_0010 nonsynonymo PLEKHG1 29884:exon16:c.C20 us SNV 69T:p.S690F ARID1B:NM_017519 :exon19:c.G5002A:p. nonsynonymo ARID1B E1668K,ARID1B:NM us SNV _020732:exon20:c.G 5041A:p.E1681K TULP4:NM_020245: nonsynonymo TULP4 exon13:c.C2330T:p. us SNV P777L NA NA NA 133 0 0% 90 71 44.10% NA NA NA 170 0 0% 112 98 46.67% NA NA NA 163 0 0% 146 124 45.93% NA NA NA 92 0 0% 71 49 40.83% NA NA NA 151 1 0.66% 107 81 43.09% NA NA NA 55 1 1.79% 51 36 41.38% NA NA NA 111 0 0% 73 69 48.59% NA NA NA 69 0 0% 56 30 34.88% NA NA NA 187 0 0% 146 122 45.52% NA NA NA 33 0 0% 20 10 33.33% NA NA NA 302 0 0% 219 159 42.06% NA NA NA 206 1 0.48% 158 135 46.08% NA NA NA 474 0 397 247 38.35% 0% Index Negative MO_1109 6 159173025 159173025 G A SYTL3 Index Negative MO_1109 6 160978441 160978441 C T LPA Index Negative MO_1109 6 167343174 167343174 C T RNASET2 Index Negative MO_1109 6 168431491 168431491 G A KIF25 Index Negative MO_1109 6 170102778 170102778 G A C6orf120 Index Negative MO_1109 7 1484480 1484480 G A MICALL2 Index Negative MO_1109 7 1542819 1542819 G A INTS1 Index Negative MO_1109 7 2963988 2963988 C T CARD11 Index Negative MO_1109 7 7459557 7459557 C A COL28A1 Index Negative MO_1109 7 21765585 21765585 C T DNAH11 Index Negative MO_1109 7 30085875 30085875 G T PLEKHA8 Index Negative MO_1109 7 31011633 31011633 C T GHRHR Index Negative MO_1109 7 31692301 31692301 G A CCDC129 Index Negative MO_1109 7 43484936 43484936 T A HECW1 Index Negative MO_1109 7 45725720 45725720 T C ADCY1 Index Negative MO_1109 7 45932616 45932616 G A IGFBP1 Index Negative MO_1109 7 47698822 47698822 A G C7orf65 Index Negative MO_1109 7 48312499 48312499 T C ABCA13 Index Negative MO_1109 7 48314904 48314904 G A ABCA13 Index Negative MO_1109 7 48318709 48318709 G A ABCA13 Index Negative MO_1109 7 50435928 50435928 G A IKZF1 Index Negative MO_1109 7 57510016 57510016 C T ZNF716 Index Negative MO_1109 7 71177030 71177030 G A WBSCR1 7 Index Negative MO_1109 7 73639064 73639064 G A LAT2 SYTL3:NM_0012423 95:exon11:c.G896A: p.R299K,SYTL3:NM _001009991:exon12: nonsynonymo c.G896A:p.R299K,S NA us SNV YTL3:NM_00124239 4:exon13:c.G1100A: p.R367K,SYTL3:NM _001242384:exon14: c.G1100A:p.R367K LPA:NM_005577:exo nonsynonymo n30:c.G4794A:p.M15 us SNV 98I RNASET2:NM_0037 nonsynonymo 30:exon9:c.G673A:p. us SNV E225K KIF25:NM_005355:e xon3:c.G131A:p.G44 nonsynonymo E,KIF25:NM_030615 us SNV :exon3:c.G131A:p.G 44E C6orf120:NM_00102 nonsynonymo 9863:exon1:c.G223A us SNV :p.D75N MICALL2:NM_18292 nonsynonymo 4:exon6:c.C1226T:p. us SNV S409F INTS1:NM_0010804 nonsynonymo 53:exon3:c.C67T:p.P us SNV 23S CARD11:NM_03241 nonsynonymo 5:exon15:c.G1819A: us SNV p.E607K COL28A1:NM_0010 nonsynonymo 37763:exon26:c.G20 us SNV 26T:p.G676C DNAH11:NM_00127 nonsynonymo 7115:exon45:c.C742 us SNV 3T:p.P2475S PLEKHA8:NM_0011 97026:exon3:c.G207 T:p.Q69H,PLEKHA8: nonsynonymo NM_001197027:exo us SNV n3:c.G207T:p.Q69H, PLEKHA8:NM_0326 39:exon3:c.G207T:p. Q69H GHRHR:NM_000823 nonsynonymo :exon6:c.C520T:p.L1 us SNV 74F CCDC129:NM_1943 00:exon13:c.G2993A nonsynonymo :p.G998E,CCDC129: us SNV NM_001257967:exo n15:c.G3023A:p.G10 08E HECW1:NM_001287 059:exon10:c.T2165 nonsynonymo A:p.V722E,HECW1: us SNV NM_015052:exon11: c.T2165A:p.V722E ADCY1:NM_021116: nonsynonymo exon13:c.T2233C:p. us SNV F745L IGFBP1:NM_000596 nonsynonymo :exon4:c.G706A:p.G us SNV 236R C7orf65:NM_001123 nonsynonymo 065:exon3:c.A452G: us SNV p.N151S ABCA13:NM_15270 nonsynonymo 1:exon17:c.T3236C: us SNV p.L1079S ABCA13:NM_15270 nonsynonymo 1:exon17:c.G5641A: us SNV p.E1881K ABCA13:NM_15270 nonsynonymo 1:exon18:c.G7918A: us SNV p.E2640K IKZF1:NM_0012918 nonsynonymo 45:exon4:c.G385A:p. us SNV V129M ZNF716:NM_001159 nonsynonymo 279:exon1:c.C22T:p. us SNV P8S WBSCR17:NM_0224 nonsynonymo 79:exon11:c.G1696A us SNV :p.G566R LAT2:NM_014146:ex on12:c.G724A:p.E24 2K,LAT2:NM_03246 nonsynonymo 3:exon13:c.G724A:p. us SNV E242K,LAT2:NM_03 2464:exon13:c.G724 A:p.E242K NA NA 162 1 0.61% 135 89 39.73% NA NA NA 56 0 0% 32 33 50.77% NA NA NA 174 0 0% 144 99 40.74% NA NA NA 77 0 0% 50 37 42.53% NA NA NA 751 1 0.13% 450 328 42.16% NA NA NA 195 0 0% 184 153 45.40% NA NA NA 69 0 0% 49 47 48.96% NA NA NA 87 0 0% 65 68 51.13% NA NA NA 85 0 0% 80 54 40.30% NA NA NA 92 0 0% 67 60 47.24% NA NA NA 84 0 0% 76 51 40.16% NA NA NA 374 1 0.27% 295 221 42.83% NA NA NA 274 1 0.36% 233 177 43.17% NA NA NA 1181 1 0.08% 939 727 43.64% NA NA NA 357 0 0% 269 216 44.54% NA NA NA 16 0 0% 28 20 41.67% NA NA NA 242 0 0% 167 130 43.77% NA NA NA 95 0 0% 66 38 36.54% NA NA NA 139 0 0% 109 87 44.39% NA NA NA 91 0 0% 61 40 39.60% NA NA NA 152 0 0% 124 82 39.81% NA NA NA 95 0 0% 65 44 40.37% NA NA NA 161 0 0% 111 79 41.58% NA NA NA 107 0 0% 81 80 49.69% Index Negative MO_1109 7 80303414 80303414 T C CD36 nonsynonymo us SNV Index Negative MO_1109 7 82451940 82451940 C T PCLO nonsynonymo us SNV Index Negative MO_1109 7 87757987 87757987 T C ADAM22 nonsynonymo us SNV Index Negative MO_1109 7 88964913 88964913 G A ZNF804B nonsynonymo us SNV Index Negative MO_1109 7 92838162 92838162 G A HEPACA nonsynonymo M2 us SNV Index Negative MO_1109 7 95041782 95041782 T A PON2 nonsynonymo us SNV Index Negative MO_1109 7 98775665 98775665 C T KPNA7 nonsynonymo us SNV Index Negative MO_1109 7 99042415 99042415 C T CPSF4 nonsynonymo us SNV Index Negative MO_1109 7 99771551 99771551 G A GPC2 nonsynonymo us SNV Index Negative MO_1109 7 100027670 100027670 C T MEPCE nonsynonymo us SNV Index Negative MO_1109 7 103137078 103137078 C T RELN nonsynonymo us SNV Index Negative MO_1109 7 103163895 103163895 C T RELN nonsynonymo us SNV Index Negative MO_1109 7 103808890 103808890 C T ORC5 nonsynonymo us SNV Index Negative MO_1109 7 106822958 106822958 C T HBP1 nonsynonymo us SNV Index Negative MO_1109 7 107615724 107615724 C T LAMB1 nonsynonymo us SNV CD36:NM_00128990 8:exon10:c.T1253C: p.V418A,CD36:NM_ 001127444:exon12:c .T1370C:p.V457A,C D36:NM_001289909: exon12:c.T1190C:p. V397A,CD36:NM_00 1289911:exon12:c.T 1142C:p.V381A,CD3 6:NM_001127443:ex on13:c.T1370C:p.V4 57A,CD36:NM_0000 72:exon14:c.T1370C :p.V457A,CD36:NM_ 001001547:exon14:c .T1370C:p.V457A,C D36:NM_001001548: exon14:c.T1370C:p. V457A PCLO:NM_014510:e xon20:c.G14662A:p. G4888S,PCLO:NM_ 033026:exon20:c.G1 4662A:p.G4888S ADAM22:NM_00419 4:exon9:c.T749C:p.L 250P,ADAM22:NM_ 016351:exon9:c.T74 9C:p.L250P,ADAM2 2:NM_021721:exon9 :c.T749C:p.L250P,A DAM22:NM_021722: exon9:c.T749C:p.L2 50P,ADAM22:NM_0 21723:exon9:c.T749 C:p.L250P ZNF804B:NM_18164 6:exon4:c.G2617A:p. E873K HEPACAM2:NM_00 1288810:exon3:c.C7 07T:p.S236F,HEPA CAM2:NM_198151:e xon3:c.C707T:p.S23 6F,HEPACAM2:NM_ 001039372:exon4:c. C743T:p.S248F,HEP ACAM2:NM_001288 804:exon5:c.C812T: p.S271F PON2:NM_000305:e xon4:c.A209T:p.K70I ,PON2:NM_0010181 61:exon4:c.A209T:p. K70I KPNA7:NM_001145 715:exon9:c.G1342A :p.E448K CPSF4:NM_0010815 59:exon2:c.C107T:p. S36L,CPSF4:NM_00 6693:exon2:c.C107T :p.S36L GPC2:NM_152742:e xon5:c.C799T:p.P26 7S MEPCE:NM_019606 :exon1:c.C29T:p.P10 L RELN:NM_005045:e xon56:c.G9088A:p.G 3030R,RELN:NM_17 3054:exon56:c.G908 8A:p.G3030R RELN:NM_005045:e xon47:c.G7433A:p.G 2478E,RELN:NM_17 3054:exon47:c.G743 3A:p.G2478E ORC5:NM_181747:e xon9:c.G908A:p.G30 3E HBP1:NM_00124426 2:exon3:c.C340T:p.R 114C,HBP1:NM_012 257:exon3:c.C310T: p.R104C LAMB1:NM_002291: exon11:c.G1324A:p. E442K NA NA NA 151 1 0.66% 105 85 44.74% NA NA NA 286 0 0% 174 141 44.76% NA NA NA 84 0 0% 42 37 46.84% NA NA NA 134 0 0% 91 61 40.13% NA NA NA 78 0 0% 85 60 41.38% NA NA NA 72 1 1.37% 43 42 49.41% NA NA NA 173 0 0% 131 82 38.50% NA NA NA 48 0 0% 43 23 34.85% NA NA NA 306 1 0.33% 242 192 44.24% NA NA NA 168 0 0% 131 105 44.49% NA NA NA 156 0 0% 162 108 NA NA NA 143 0 0% 135 93 40.79% NA NA NA 70 0 0% 71 53 42.74% NA NA NA 65 0 0% 64 37 36.63% NA NA NA 139 0 0% 118 96 44.86% NA 161 0 0% 84 68 44.74% GPR37:NM_005302: nonsynonymo exon2:c.C1634T:p.T NA us SNV 545I NA 397 0 0% 255 201 44.08% Index Negative MO_1109 7 113519565 113519565 C T ID=COSM1 673467;OC PPP1R3A:NM_0027 CURENCE nonsynonymo PPP1R3A 11:exon4:c.G1582A: =1(haemat NA us SNV opoietic_a p.E528K nd_lymphoi d_tissue) Index Negative MO_1109 7 124386787 124386787 G A GPR37 NA 40% Index Index Negative MO_1109 Negative MO_1109 7 126410032 126410032 G 7 128482686 128482686 G A A Index Negative MO_1109 7 136700975 136700975 C T Index Negative MO_1109 7 141887625 141887625 T G Index Negative MO_1109 7 150027506 150027506 G A Index Negative MO_1109 7 154680988 154680988 A G Index Negative MO_1109 7 155755909 155755909 G A Index Negative MO_1109 8 1874610 1874610 C T Index Negative MO_1109 8 3076911 3076911 G A Index Negative MO_1109 8 8560041 8560041 T A Index Negative MO_1109 8 11565886 11565886 G A Index Negative MO_1109 8 12878586 12878586 C T Index Negative MO_1109 8 21937969 21937969 C T Index Negative MO_1109 8 22052273 22052273 G A Index Negative MO_1109 8 27886860 27886860 C T Index Negative MO_1109 8 27887911 27887911 C T Index Negative MO_1109 8 30700865 30700865 T C ID=COSM1 548401,CO SM154840 NA 2;OCCUR ENCE=1(lu ng) GRM8 GRM8:NM_000845:e xon6:c.C1244T:p.A4 nonsynonymo 15V,GRM8:NM_001 us SNV 127323:exon7:c.C12 44T:p.A415V FLNC FLNC:NM_00112748 7:exon15:c.G2323A: nonsynonymo p.E775K,FLNC:NM_ NA us SNV 001458:exon15:c.G2 323A:p.E775K CHRM2 CHRM2:NM_001006 629:exon2:c.C1363T :p.L455F,CHRM2:N M_001006627:exon3 :c.C1363T:p.L455F, CHRM2:NM_001006 628:exon3:c.C1363T :p.L455F,CHRM2:N M_001006632:exon3 nonsynonymo :c.C1363T:p.L455F, NA us SNV CHRM2:NM_000739 :exon4:c.C1363T:p.L 455F,CHRM2:NM_0 01006630:exon4:c.C 1363T:p.L455F,CHR M2:NM_001006631: exon4:c.C1363T:p.L 455F,CHRM2:NM_0 01006626:exon5:c.C 1363T:p.L455F LOC93432:NM_0012 LOC9343 nonsynonymo 93626:exon36:c.T41 2 us SNV 98G:p.Y1400D ZBED6CL:NM_1384 nonsynonymo ZBED6CL 34:exon1:c.G13A:p. us SNV E5K DPP6:NM_00129025 2:exon22:c.A1990G: p.K664E,DPP6:NM_ 001039350:exon24:c nonsynonymo .A2119G:p.K707E,D DPP6 us SNV PP6:NM_001936:exo n24:c.A2125G:p.K70 9E,DPP6:NM_13079 7:exon24:c.A2311G: p.K771E LOC389602:NM_001 LOC3896 nonsynonymo 291913:exon1:c.G38 02 us SNV 6A:p.R129K ARHGEF10:NM_014 ARHGEF1 nonsynonymo 629:exon23:c.C2678 0 us SNV T:p.T893M CSMD1:NM_033225: nonsynonymo CSMD1 exon29:c.C4538T:p. us SNV S1513F CLDN23:NM_19428 nonsynonymo CLDN23 4:exon1:c.T133A:p.L us SNV 45M GATA4:NM_002052: nonsynonymo GATA4 exon2:c.G65A:p.G22 us SNV D KIAA1456:NM_0010 99677:exon2:c.C20T nonsynonymo KIAA1456 :p.P7L,KIAA1456:N us SNV M_020844:exon5:c. C398T:p.P133L DMTN:NM_0011141 39:exon11:c.C872T: p.P291L,DMTN:NM_ 001114135:exon12:c .C947T:p.P316L,DM TN:NM_001114136: exon12:c.C947T:p.P nonsynonymo DMTN 316L,DMTN:NM_001 us SNV 114137:exon12:c.C9 47T:p.P316L,DMTN: NM_001114138:exo n12:c.C947T:p.P316 L,DMTN:NM_001978 :exon12:c.C947T:p.P 316L BMP1:NM_001199:e xon12:c.G1480A:p.E nonsynonymo BMP1 494K,BMP1:NM_006 us SNV 129:exon12:c.G1480 A:p.E494K NUGGC:NM_001010 nonsynonymo NUGGC 906:exon17:c.G2077 us SNV A:p.G693R NUGGC:NM_001010 nonsynonymo NUGGC 906:exon16:c.G1933 us SNV A:p.E645K TEX15:NM_031271: nonsynonymo TEX15 exon1:c.A5669G:p.D us SNV 1890G NA 50 0 0% 49 46 48.42% NA NA 103 0 0% 94 81 46.29% NA NA 254 0 0% 190 132 40.99% NA NA NA 38 0 0% 23 21 47.73% NA NA NA 325 1 0.31% 246 187 43.19% NA NA NA 32 0 0% 27 26 49.06% NA NA NA 75 0 0% 49 38 43.68% NA NA NA 92 0 0% 69 57 45.24% NA NA NA 58 0 0% 40 32 44.44% NA NA NA 194 1 0.51% 141 78 35.62% NA NA NA 128 0 0% 87 75 46.30% NA NA NA 105 0 0% 62 48 43.64% NA NA NA 172 0 0% 117 105 47.30% NA NA NA 346 1 0.29% 233 204 46.68% NA NA NA 209 0 0% 168 96 36.36% NA NA NA 111 1 0.89% 75 58 43.61% NA NA NA 98 0 61 54 46.96% 0% Index Negative MO_1109 8 41844996 41844996 G A KAT6A KAT6A:NM_006766: exon3:c.C686T:p.S2 29F,KAT6A:NM_001 nonsynonymo 099412:exon4:c.C68 NA us SNV 6T:p.S229F,KAT6A: NM_001099413:exo n4:c.C686T:p.S229F Index Negative MO_1109 8 53092792 53092792 G A ST18 nonsynonymo ST18:NM_014682:ex NA us SNV on9:c.C167T:p.S56F Index Negative MO_1109 8 55533945 55533945 A C RP1 Index Negative MO_1109 8 68140271 68140271 G A Index Negative MO_1109 8 68150658 68150658 G A Index Negative MO_1109 8 72211444 72211444 C T Index Negative MO_1109 8 73848264 73848264 G A Index Negative MO_1109 8 77764726 77764726 G A Index Negative MO_1109 8 77768177 77768177 C T Index Negative MO_1109 8 87111269 87111269 G A Index Negative MO_1109 8 88885653 88885653 G A Index Negative MO_1109 8 95953058 95953058 C T Index Negative MO_1109 8 97274281 97274281 G A Index Negative MO_1109 8 98657059 98657059 C T Index Negative MO_1109 8 104225240 104225240 C A Index Negative MO_1109 8 104427430 104427430 C T Index Index Negative MO_1109 Negative MO_1109 8 107691480 107691480 G 8 108306186 108306186 C A T Index Negative MO_1109 8 110476632 110476632 G A Index Negative MO_1109 8 110476919 110476919 G A Index Negative MO_1109 8 113259252 113259252 T A NA NA 88 0 0% 77 46 37.40% NA NA 163 0 0% 111 72 39.34% NA NA NA 244 0 0% 158 80 33.61% NA NA NA 35 0 0% 23 23 NA NA NA 89 0 0% 68 42 38.18% NA NA NA 118 0 0% 102 76 42.70% NA NA NA 338 1 0.29% 271 182 40.18% ID=COSM1 ZFHX4:NM_024721: nonsynonymo 65695;OC exon10:c.G5569A:p. NA us SNV CURENCE E1857K =1(breast) NA 188 0 0% 128 91 41.55% NA NA 307 0 0% 210 152 41.99% NA rs150345 297 240 0 0% 137 104 43.15% NA NA 744 2 0.27% 385 314 44.92% NA NA 61 1 1.61% 45 35 43.75% NA NA 246 0 0% 194 136 41.21% NA NA 190 0 0% 119 100 45.66% NA NA 171 0 0% 169 120 41.52% NA NA 533 0 0% 408 332 44.86% ID=COSM1 650749,CO SM603606; OCCUREN 0.0001997 NA CE=1(large _intestine), 1(lung) 76 0 0% 77 57 42.54% RP1:NM_006269:ex nonsynonymo on2:c.A419C:p.H140 us SNV P ARFGEF1:NM_0064 nonsynonymo ARFGEF1 21:exon25:c.C3518T us SNV :p.S1173L ARFGEF1:NM_0064 nonsynonymo ARFGEF1 21:exon22:c.C3209T us SNV :p.S1070F EYA1:NM_172060:e xon7:c.G565A:p.G18 9S,EYA1:NM_17205 8:exon8:c.G664A:p. G222S,EYA1:NM_17 2059:exon8:c.G649A nonsynonymo :p.G217S,EYA1:NM_ EYA1 us SNV 000503:exon9:c.G66 4A:p.G222S,EYA1:N M_001288574:exon9 :c.G646A:p.G216S,E YA1:NM_001288575 :exon9:c.G298A:p.G 100S KCNB2:NM_004770: nonsynonymo KCNB2 exon3:c.G674A:p.G2 us SNV 25E ZFHX4 ZFHX4:NM_024721: nonsynonymo ZFHX4 exon10:c.C9020T:p. NA us SNV P3007L ID=COSM1 ATP6V0D2:NM_152 102130;OC ATP6V0D nonsynonymo 565:exon1:c.G62A:p. CURENCE 2 us SNV R21Q =1(endome trium) DCAF4L2:NM_1524 nonsynonymo DCAF4L2 18:exon1:c.C547T:p. NA us SNV P183S TP53INP1:NM_0011 35733:exon2:c.G112 nonsynonymo TP53INP1 A:p.D38N,TP53INP1 NA us SNV :NM_033285:exon2: c.G112A:p.D38N PTDSS1:NM_01475 nonsynonymo PTDSS1 4:exon1:c.G13A:p.V NA us SNV 5M MTDH:NM_178812:e nonsynonymo MTDH xon1:c.C325T:p.L10 NA us SNV 9F BAALC:NM_024812: nonsynonymo BAALC exon2:c.C254A:p.T8 NA us SNV 5N DCAF13:NM_01542 nonsynonymo DCAF13 0:exon1:c.C212T:p.S NA us SNV 71L OXR1 OXR1:NM_181354:e xon2:c.G242A:p.R81 Q,OXR1:NM_001198 532:exon3:c.G266A: nonsynonymo p.R89Q,OXR1:NM_0 us SNV 01198533:exon4:c.G 263A:p.R88Q,OXR1: NM_018002:exon4:c .G263A:p.R88Q ANGPT1 ANGPT1:NM_00114 6:exon6:c.G1016A:p. nonsynonymo R339K,ANGPT1:NM NA us SNV _001199859:exon6:c .G1013A:p.R338K PKHD1L1:NM_1775 nonsynonymo PKHD1L1 31:exon49:c.G7571A NA us SNV :p.G2524E PKHD1L1:NM_1775 nonsynonymo PKHD1L1 31:exon49:c.G7858A NA us SNV :p.G2620S CSMD3:NM_052900: exon62:c.A9712T:p.I 3238L,CSMD3:NM_1 nonsynonymo 98123:exon64:c.A10 CSMD3 NA us SNV 219T:p.I3407L,CSM D3:NM_198124:exon 65:c.A10099T:p.I336 7L 50% NA NA 126 0 0% 94 83 46.89% NA NA 118 0 0% 98 74 43.02% NA NA 201 1 0.50% 161 111 40.81% NA NA 35 28 13 31.71% 0 0% Index Negative MO_1109 8 113363425 113363425 A G CSMD3 nonsynonymo us SNV Index Negative MO_1109 8 124195539 124195539 G A FAM83A nonsynonymo us SNV Index Negative MO_1109 8 126051148 126051148 G A KIAA0196 nonsynonymo us SNV Index Negative MO_1109 8 142146785 142146785 G A DENND3 nonsynonymo us SNV Index Negative MO_1109 8 144681529 144681529 G A TIGD5 nonsynonymo us SNV Index Negative MO_1109 8 144803575 144803575 G A MAPK15 nonsynonymo us SNV Index Negative MO_1109 8 144809488 144809488 C T FAM83H nonsynonymo us SNV Index Negative MO_1109 8 145541585 145541585 G A DGAT1 nonsynonymo us SNV Index Negative MO_1109 8 146033679 146033679 G A ZNF517 nonsynonymo us SNV RFX3 Index Negative MO_1109 9 3266261 3266261 C T CSMD3:NM_052900: exon39:c.T5992C:p. Y1998H,CSMD3:NM _198123:exon40:c.T 6304C:p.Y2102H,CS MD3:NM_198124:ex on41:c.T6184C:p.Y2 062H FAM83A:NM_00128 8587:exon1:c.G443A :p.R148K,FAM83A:N M_032899:exon2:c. G443A:p.R148K,FA M83A:NM_207006:e xon2:c.G443A:p.R14 8K KIAA0196:NM_0148 46:exon25:c.C3008T :p.P1003L DENND3:NM_01495 7:exon2:c.G40A:p.E 14K TIGD5:NM_032862:e xon1:c.G1456A:p.E4 86K MAPK15:NM_13902 1:exon11:c.G1198A: p.E400K FAM83H:NM_19848 8:exon5:c.G2143A:p. V715I DGAT1:NM_012079: exon9:c.C847T:p.L2 83F ZNF517:NM_213605 :exon5:c.G1378A:p. A460T NA NA NA 35 0 0% 31 24 43.64% NA NA NA 176 0 0% 134 111 45.31% NA NA NA 68 0 0% 64 46 41.82% NA NA NA 176 0 0% 149 115 43.56% NA NA NA 342 0 0% 274 199 42.07% NA NA NA 500 0 0% 392 311 44.24% NA NA NA 277 0 0% 186 179 49.04% NA NA NA 324 0 0% 269 183 40.49% NA NA NA 337 0 0% 222 192 46.38% RFX3:NM_002919:e xon11:c.G1402A:p.G 468S,RFX3:NM_001 nonsynonymo 282116:exon12:c.G1 NA us SNV 402A:p.G468S,RFX3 :NM_134428:exon13 :c.G1402A:p.G468S NA NA 65 0 0% 37 35 48.61% NA NA NA 116 0 0% 65 60 NA NA NA 98 0 0% 61 58 48.74% NA NA NA 282 0 0% 180 140 43.75% NA NA NA 95 0 0% 101 49 32.67% NA NA NA 540 1 0.18% 408 315 43.57% NA NA NA 309 0 0% 232 218 48.44% 0 0% 244 192 44.04% nonsynonymo us SNV CD274:NM_0012677 06:exon3:c.G293A:p. R98K,CD274:NM_01 4143:exon4:c.G635A :p.R212K ADAMTSL1:NM_001 040272:exon24:c.G4 396A:p.E1466K IFNW1:NM_002177: exon1:c.G59A:p.G20 E EQTN:NM_0011615 85:exon3:c.C239T:p. S80F,EQTN:NM_020 641:exon3:c.C239T: p.S80F CD72:NM_001782:e xon5:c.C430T:p.R14 4C TPM2:NM_213674:e xon6:c.C617T:p.S20 6F TPM2:NM_213674:e xon6:c.G586A:p.E19 6K Index Negative MO_1109 9 5463074 5463074 G A CD274 Index Negative MO_1109 9 18887975 18887975 G A ADAMTS nonsynonymo L1 us SNV Index Negative MO_1109 9 21141511 21141511 C T IFNW1 nonsynonymo us SNV Index Negative MO_1109 9 27294364 27294364 G A EQTN nonsynonymo us SNV Index Negative MO_1109 9 35616198 35616198 G A CD72 nonsynonymo us SNV Index Negative MO_1109 9 35685083 35685083 G A TPM2 nonsynonymo us SNV Index Negative MO_1109 9 35685114 35685114 C T TPM2 nonsynonymo us SNV NA NA NA 304 TRPM3:NM_206944: exon17:c.G2024A:p. G675E,TRPM3:NM_ 001007471:exon18:c .G2513A:p.G838E,T RPM3:NM_020952:e xon18:c.G2054A:p.G 685E,TRPM3:NM_20 nonsynonymo 6945:exon18:c.G206 NA us SNV 0A:p.G687E,TRPM3: NM_206947:exon18: c.G2099A:p.G700E, TRPM3:NM_024971: exon19:c.G2090A:p. G697E,TRPM3:NM_ 206946:exon19:c.G2 129A:p.G710E NA NA 90 1 1.10% 84 64 43.24% NA NA 41 0 0% 36 26 41.94% NA NA 218 0 0% 162 127 43.94% NA NA 104 0 0% 78 75 49.02% Index Negative MO_1109 9 73225643 73225643 C T TRPM3 Index Negative MO_1109 9 77282758 77282758 C T RORB Index Negative MO_1109 9 94495478 94495478 G T ROR2 Index Negative MO_1109 9 97367813 97367813 C T FBP1 RORB:NM_006914:e nonsynonymo xon8:c.C1052T:p.S3 NA us SNV 51F ROR2:NM_004560:e nonsynonymo xon6:c.C863A:p.A28 NA us SNV 8E FBP1:NM_000507:e xon6:c.G751A:p.A25 nonsynonymo 1T,FBP1:NM_00112 NA us SNV 7628:exon7:c.G751A :p.A251T 48% Index Negative MO_1109 9 98660237 C A ERCC6L2 nonsynonymo us SNV Index Negative MO_1109 9 101797434 101797434 G A COL15A1 nonsynonymo us SNV Index Negative MO_1109 9 104124943 104124943 C T BAAT nonsynonymo us SNV Index Negative MO_1109 9 104449106 104449106 G A GRIN3A nonsynonymo us SNV Index Negative MO_1109 9 107591388 107591388 G A ABCA1 nonsynonymo us SNV Index Negative MO_1109 9 111624939 111624939 C T ACTL7A nonsynonymo us SNV Index Negative MO_1109 9 113173821 113173821 G A SVEP1 nonsynonymo us SNV Index Negative MO_1109 9 119567936 119567936 C T ASTN2 nonsynonymo us SNV Index Negative MO_1109 9 120474860 120474860 T A TLR4 nonsynonymo us SNV Index Negative MO_1109 9 123583217 123583217 G A PSMD5 nonsynonymo us SNV Index Negative MO_1109 9 124989158 124989158 C T LHX6 nonsynonymo us SNV Index Negative MO_1109 9 126133013 126133013 C T CRB2 nonsynonymo us SNV TOR2A Index Negative MO_1109 98660237 9 130495728 130495728 A G ERCC6L2:NM_0010 10895:exon3:c.C611 A:p.S204Y,ERCC6L 2:NM_020207:exon3 :c.C611A:p.S204Y COL15A1:NM_0018 55:exon18:c.G2218A :p.E740K BAAT:NM_00112761 0:exon4:c.G1024A:p. G342R,BAAT:NM_0 01701:exon4:c.G102 4A:p.G342R GRIN3A:NM_133445 :exon2:c.C1076T:p.S 359F ABCA1:NM_005502: exon15:c.C1924T:p. L642F ACTL7A:NM_006687 :exon1:c.C337T:p.R1 13C SVEP1:NM_153366: exon37:c.C6170T:p. S2057F ASTN2:NM_014010: exon12:c.G2218A:p. G740S TLR4:NM_138554:ex on3:c.T454A:p.L152 M,TLR4:NM_003266 :exon4:c.T334A:p.L1 12M PSMD5:NM_001270 427:exon8:c.C1028T :p.S343F,PSMD5:N M_005047:exon9:c. C1157T:p.S386F LHX6:NM_00124233 4:exon2:c.G221A:p. G74D,LHX6:NM_001 242333:exon3:c.G27 5A:p.G92D,LHX6:N M_014368:exon3:c. G308A:p.G103D,LH X6:NM_199160:exon 3:c.G308A:p.G103D CRB2:NM_173689:e xon7:c.C1681T:p.P5 61S NA NA NA 0.0003994 NA 52 0 0% 47 47 50% rs201093 370 176 0 0% 146 110 42.97% NA NA NA 343 0 0% 241 203 45.72% NA NA NA 344 0 0% 248 182 42.33% NA NA NA 306 1 0.33% 200 157 43.98% NA NA NA 427 0 0% 278 200 41.84% NA NA NA 221 0 0% 180 118 39.60% NA NA NA 108 0 0% 88 55 38.46% NA NA NA 118 0 0% 118 72 37.89% NA NA NA 128 0 0% 104 80 43.48% NA NA NA 213 0 0% 208 176 45.83% NA NA NA 601 0 0% 483 412 46.03% TOR2A:NM_001252 018:exon2:c.T43C:p. F15L,TOR2A:NM_00 1252021:exon2:c.T4 3C:p.F15L,TOR2A:N M_001252023:exon2 nonsynonymo :c.T43C:p.F15L,TOR NA us SNV 2A:NM_001085347:e xon3:c.T529C:p.F17 7L,TOR2A:NM_0011 34430:exon3:c.T529 C:p.F177L,TOR2A:N M_130459:exon3:c.T 529C:p.F177L NA NA 122 0 0% 113 86 43.22% NA NA NA 179 0 0% 134 114 45.97% NA NA NA 636 0 0% 496 348 41.23% NA NA NA 104 0 0% 85 59 40.97% NA NA NA 231 0 0% 210 113 34.98% NA NA rs200678 908 90 0 0% 67 72 51.80% NA NA NA 425 0 0% 359 309 46.26% NA NA rs371048 180 315 0 0% 218 216 49.77% NA NA NA 284 0 0% 270 194 41.81% Index Negative MO_1109 9 132631996 132631996 C T USP20 nonsynonymo us SNV Index Negative MO_1109 9 134073638 134073638 C T NUP214 nonsynonymo us SNV Index Negative MO_1109 9 134353190 134353190 C T PRRC2B nonsynonymo us SNV Index Negative MO_1109 9 135458257 135458257 G A BARHL1 nonsynonymo us SNV Index Negative MO_1109 9 135601109 135601109 C T AK8 nonsynonymo us SNV Index Negative MO_1109 9 136029061 136029061 G A GBGT1 nonsynonymo us SNV Index Negative MO_1109 9 138830149 138830149 C T UBAC1 nonsynonymo us SNV Index Negative MO_1109 9 139369393 139369393 G A SEC16A nonsynonymo us SNV USP20:NM_0010085 63:exon14:c.C1438T :p.P480S,USP20:NM _001110303:exon14: c.C1438T:p.P480S,U SP20:NM_006676:ex on14:c.C1438T:p.P4 80S NUP214:NM_005085 :exon29:c.C4757T:p. S1586F PRRC2B:NM_01331 8:exon16:c.C4466T: p.S1489F BARHL1:NM_02006 4:exon1:c.G73A:p.G 25R AK8:NM_152572:exo n13:c.G1406A:p.G46 9E GBGT1:NM_001282 632:exon6:c.C896T: p.P299L,GBGT1:NM _001288572:exon7:c .C806T:p.P269L,GB GT1:NM_001288573 :exon7:c.C539T:p.P1 80L,GBGT1:NM_021 996:exon7:c.C947T: p.P316L UBAC1:NM_016172: exon9:c.G1021A:p.D 341N SEC16A:NM_00127 6418:exon2:c.C2675 T:p.S892F,SEC16A: NM_014866:exon3:c .C2675T:p.S892F Index Negative MO_1109 9 139379373 139379373 T G Index Negative MO_1109 9 139744467 139744467 G A Index Negative MO_1109 9 139752014 139752014 G A Index Negative MO_1109 10 1262978 1262978 A G Index Negative MO_1109 10 7213996 7213996 C T Index Negative MO_1109 10 17373505 17373505 A G Index Negative MO_1109 10 18874923 18874923 C A Index Negative MO_1109 10 27687464 27687464 T C Index Negative MO_1109 10 44112176 44112176 C T Index Negative MO_1109 10 48416609 48416609 C G Index Index Negative MO_1109 Negative MO_1109 10 10 55892665 62648330 55892665 C 62648330 G C9orf163:NM_15257 nonsynonymo 1:exon1:c.T473G:p. us SNV M158R PHPT1:NM_0011358 61:exon2:c.G163A:p. D55N,PHPT1:NM_0 01287342:exon2:c.G nonsynonymo 169A:p.D57N,PHPT PHPT1 us SNV 1:NM_001287343:ex on2:c.G163A:p.D55 N,PHPT1:NM_01417 2:exon2:c.G163A:p. D55N MAMDC4:NM_20692 nonsynonymo MAMDC4 0:exon18:c.G2302A: us SNV p.D768N ADARB2:NM_01870 nonsynonymo ADARB2 2:exon7:c.T1595C:p. us SNV V532A SFMBT2:NM_00101 8039:exon19:c.G227 nonsynonymo 6A:p.R759K,SFMBT SFMBT2 us SNV 2:NM_001029880:ex on19:c.G2276A:p.R7 59K ST8SIA6:NM_00100 nonsynonymo ST8SIA6 4470:exon5:c.T424C us SNV :p.S142P NSUN6:NM_182543: nonsynonymo NSUN6 exon8:c.G877T:p.D2 us SNV 93Y PTCHD3:NM_00103 nonsynonymo PTCHD3 4842:exon4:c.A2063 us SNV G:p.Y688C ZNF485:NM_145312 nonsynonymo ZNF485 :exon5:c.C685T:p.L2 us SNV 29F GDF2:NM_016204:e nonsynonymo GDF2 xon1:c.G85C:p.G29 us SNV R C9orf163 NA NA NA 242 0 0% 165 122 42.51% NA NA NA 285 0 0% 264 197 42.73% NA NA NA 411 0 0% 386 267 40.89% NA NA NA 93 0 0% 6 47 88.68% NA NA NA 199 0 0% 23 133 85.26% NA NA NA 93 0 0% 6 48 88.89% NA NA NA 74 0 0% 10 45 81.82% NA NA rs140360 772 55 0 0% 1 29 96.67% NA NA NA 95 0 0% 76 73 48.99% NA NA NA 295 0 0% 227 159 41.19% T PCDH15 PCDH15:NM_00114 2767:exon14:c.G177 6A:p.M592I,PCDH15 :NM_001142768:exo n14:c.G1821A:p.M60 7I,PCDH15:NM_001 142773:exon14:c.G1 821A:p.M607I,PCDH nonsynonymo 15:NM_001142764:e NA us SNV xon15:c.G1887A:p.M 629I,PCDH15:NM_0 01142766:exon15:c. G1887A:p.M629I,PC DH15:NM_033056:e xon15:c.G1887A:p.M 629I,PCDH15:NM_0 01142763:exon16:c. G1902A:p.M634I NA NA 46 0 0% 40 26 39.39% A RHOBTB1:NM_0148 36:exon6:c.C1096T: RHOBTB nonsynonymo p.P366S,RHOBTB1: NA 1 us SNV NM_001242359:exo n7:c.C1096T:p.P366 S NA NA 317 0 0% 223 143 39.07% ID=COSM1 702663,CO SM170266 2,COSM17 NA 02661;OC CURENCE =1(skin) NA 312 0 0% 251 224 47.16% NA NA 42 0 0% 47 33 41.25% NA NA 20 0 0% 20 10 33.33% NA NA 122 0 0% 93 58 38.41% NA NA 116 0 0% 70 58 45.31% Index Negative MO_1109 10 78709016 78709016 G A KCNMA1:NM_00127 1518:exon21:c.C226 9T:p.R757C,KCNMA 1:NM_002247:exon2 1:c.C2419T:p.R807C ,KCNMA1:NM_0010 14797:exon22:c.C24 nonsynonymo 31T:p.R811C,KCNM KCNMA1 us SNV A1:NM_001161352:e xon22:c.C2593T:p.R 865C,KCNMA1:NM_ 001161353:exon22:c .C2542T:p.R848C,K CNMA1:NM_001271 519:exon22:c.C2428 T:p.R810C Index Negative MO_1109 10 94269839 94269839 G A IDE Index Negative MO_1109 10 96014719 96014719 G A Index Negative MO_1109 10 107006986 107006986 A G Index Negative MO_1109 10 115413811 115413811 C T nonsynonymo IDE:NM_004969:exo NA us SNV n6:c.C865T:p.P289S PLCE1:NM_0011659 79:exon10:c.G2543A :p.G848E,PLCE1:N nonsynonymo M_001288989:exon1 PLCE1 NA us SNV 1:c.G3467A:p.G1156 E,PLCE1:NM_01634 1:exon11:c.G3467A: p.G1156E SORCS3:NM_01497 nonsynonymo SORCS3 8:exon22:c.A3002G: NA us SNV p.Q1001R NRAP:NM_0012614 63:exon5:c.G434A:p. R145K,NRAP:NM_0 nonsynonymo NRAP 06175:exon5:c.G434 NA us SNV A:p.R145K,NRAP:N M_198060:exon5:c. G434A:p.R145K Index Negative MO_1109 10 115664684 115664684 C T Index Negative MO_1109 10 115978313 115978313 C T Index Negative MO_1109 10 117026293 117026293 G A Index Negative MO_1109 10 117971154 117971154 A C Index Negative MO_1109 10 118351369 118351369 C T Index Negative MO_1109 10 124754011 124754011 A G Index Negative MO_1109 10 128973941 128973941 G A Index Negative MO_1109 10 134563115 134563115 A C Index Negative MO_1109 10 135038227 135038227 G A NHLRC2:NM_19851 nonsynonymo 4:exon10:c.C1813T: us SNV p.P605S TDRD1:NM_198795: nonsynonymo TDRD1 exon18:c.C2464T:p. us SNV P822S ATRNL1:NM_20730 nonsynonymo ATRNL1 3:exon12:c.G1792A: us SNV p.G598R GFRA1:NM_005264: nonsynonymo GFRA1 exon5:c.T422G:p.V1 us SNV 41G PNLIPRP1:NM_0062 PNLIPRP nonsynonymo 29:exon3:c.C136T:p. 1 us SNV P46S IKZF5:NM_0012718 nonsynonymo IKZF5 40:exon5:c.T545C:p. us SNV L182S FAM196A:NM_0010 nonsynonymo FAM196A 39762:exon4:c.C719 us SNV T:p.P240L INPP5A:NM_005539 nonsynonymo INPP5A :exon10:c.A827C:p.K us SNV 276T KNDC1:NM_152643: nonsynonymo KNDC1 exon30:c.G5083A:p. us SNV D1695N NHLRC2 Index Negative MO_1109 11 1262500 1262500 G A MUC5B Index Negative MO_1109 11 2999537 2999537 G A NAP1L4 Index Negative MO_1109 11 3115473 3115473 T A OSBPL5 Index Negative MO_1109 11 4674285 4674285 C T OR51E1 Index Negative MO_1109 11 4869963 4869963 C T OR51S1 Index Negative MO_1109 11 4903730 4903730 G A OR51T1 Index Negative MO_1109 11 4945238 4945238 G A OR51G1 Index Negative MO_1109 11 5444292 5444292 G A OR51Q1 Index Negative MO_1109 11 6643441 6643441 C T DCHS1 Index Negative MO_1109 11 6650760 6650760 G A DCHS1 Index Negative MO_1109 11 7022585 7022585 G A ZNF214 Index Negative MO_1109 11 7083661 7083661 G A NLRP14 Index Negative MO_1109 11 7726119 7726119 G A OVCH2 Index Negative MO_1109 11 8640479 8640479 C T Index Negative MO_1109 11 10796821 10796821 C T Index Negative MO_1109 11 22363138 22363138 G A Index Negative MO_1109 11 36595023 36595023 C T Index Negative MO_1109 11 44081450 44081450 G A Index Negative MO_1109 11 46637525 46637525 C T Index Negative MO_1109 11 47353772 47353772 C T NA NA NA 0.0001997 NA 168 0 0% 141 81 36.49% rs200591 610 90 0 0% 78 69 46.94% NA NA NA 48 0 0% 45 26 36.62% NA NA NA 50 0 0% 30 23 43.40% NA NA NA 147 1 0.68% 147 104 41.43% NA NA NA 289 0 0% 220 190 46.34% NA NA NA 329 1 0.30% 277 195 41.31% NA NA NA 139 1 0.71% 85 69 44.81% NA NA NA 180 0 0% 114 90 44.12% NA 477 2 0.42% 427 300 41.27% NA 79 0 0% 69 57 45.24% NA 195 0 0% 174 149 46.13% NA 502 0 0% 308 186 37.65% ID=COSM6 OR51S1:NM_00100 nonsynonymo 87866;OC 4758:exon1:c.G476A 0.0001997 NA us SNV CURENCE :p.R159Q =2(lung) 186 0 0% 159 131 45.17% ID=COSM1 215940,CO MUC5B:NM_002458: SM121594 nonsynonymo exon31:c.G4390A:p. 1;OCCUR NA us SNV E1464K ENCE=1(la rge_intesti ne) NAP1L4:NM_005969 nonsynonymo :exon3:c.C50T:p.A17 NA NA us SNV V OSBPL5:NM_00114 4063:exon14:c.A150 9T:p.K503N,OSBPL nonsynonymo 5:NM_145638:exon1 NA NA us SNV 4:c.A1509T:p.K503N ,OSBPL5:NM_02089 6:exon15:c.A1713T: p.K571N OR51E1:NM_15243 nonsynonymo 0:exon2:c.C529T:p.L NA NA us SNV 177F OR51T1:NM_001004 nonsynonymo 759:exon1:c.G682A: us SNV p.G228R OR51G1:NM_00100 nonsynonymo 5237:exon1:c.C332T us SNV :p.S111L OR51Q1:NM_00100 nonsynonymo 4757:exon1:c.G862A us SNV :p.V288M DCHS1:NM_003737: nonsynonymo exon21:c.G9466A:p. us SNV E3156K DCHS1:NM_003737: nonsynonymo exon12:c.C5084T:p. us SNV S1695F ZNF214:NM_013249 nonsynonymo :exon3:c.C329T:p.S1 us SNV 10F NA NA NA 277 0 0% 188 168 47.19% NA NA NA 394 0 0% 284 218 43.43% NA NA NA 271 0 0% 182 146 44.51% NA NA NA 394 0 0% 317 195 38.09% NA NA NA 239 0 0% 182 122 40.13% NA NA NA 99 0 0% 87 71 44.94% ID=COSM1 NLRP14:NM_176822 nonsynonymo 36817;OC :exon10:c.G2902A:p. NA us SNV CURENCE D968N =1(skin) NA 19 0 0% 17 18 51.43% OVCH2:NM_198185: nonsynonymo exon2:c.C191T:p.P6 us SNV 4L TRIM66:NM_014818 nonsynonymo TRIM66 :exon19:c.G3409A:p. us SNV E1137K CTR9:NM_014633:e nonsynonymo CTR9 xon23:c.C2953T:p.R us SNV 985C SLC17A6:NM_02034 nonsynonymo SLC17A6 6:exon2:c.G151A:p. us SNV E51K RAG1:NM_000448:e nonsynonymo RAG1 xon2:c.C169T:p.P57 us SNV S ACCSL:NM_001031 nonsynonymo ACCSL 854:exon14:c.G1687 us SNV A:p.E563K HARBI1:NM_173811 nonsynonymo HARBI1 :exon2:c.G263A:p.R us SNV 88Q MYBPC3:NM_00025 nonsynonymo MYBPC3 6:exon32:c.G3665A: us SNV p.G1222E NA NA NA 64 0 0% 54 56 50.91% NA NA NA 145 0 0% 130 77 37.20% NA NA NA 120 0 0% 96 60 38.46% NA NA NA 359 0 0% 278 176 38.77% NA NA NA 145 0 0% 146 99 40.41% NA NA NA 292 0 0% 207 153 42.50% 0.0011981 NA 362 1 0.28% 273 209 43.36% 151 0 132 99 42.86% NA NA NA NA 0% Index Negative MO_1109 11 47469672 47469672 C T RAPSN Index Negative MO_1109 11 48285489 48285489 C T OR4X1 Index Negative MO_1109 11 55418737 55418737 C T OR4S2 Index Negative MO_1109 11 57004402 57004402 G A APLNR Index Negative MO_1109 11 58980314 58980314 G A MPEG1 Index Negative MO_1109 11 59132854 59132854 G A OR5AN1 Index Negative MO_1109 11 61313645 61313645 C T SYT7 Index Negative MO_1109 11 62289545 62289545 G A AHNAK Index Negative MO_1109 11 62293322 62293322 G T AHNAK Index Negative MO_1109 11 63965360 63965360 G A Index Negative MO_1109 11 67395622 67395622 G T Index Negative MO_1109 11 68367862 68367862 C T Index Negative MO_1109 11 72539932 72539932 G A Index Negative MO_1109 11 73063924 73063924 C T Index Negative MO_1109 11 74204376 74204376 G A Index Negative MO_1109 11 92543039 92543039 G A Index Negative MO_1109 11 96098247 96098247 G A Index Negative MO_1109 11 103026124 103026124 T G Index Negative MO_1109 11 104897600 104897600 C A STIP1 RAPSN:NM_005055: exon2:c.G223A:p.E7 nonsynonymo 5K,RAPSN:NM_032 NA us SNV 645:exon2:c.G223A: p.E75K OR4X1:NM_001004 nonsynonymo 726:exon1:c.C77T:p. NA us SNV S26F ID=COSM3 6685;OCC OR4S2:NM_001004 nonsynonymo URENCE= 059:exon1:c.C358T: us SNV 1(large_int p.R120C estine),1(s kin) APLNR:NM_005161: nonsynonymo exon1:c.C77T:p.S26 NA us SNV F ID=COSM9 MPEG1:NM_001039 29000;OC nonsynonymo 396:exon1:c.C25T:p. CURENCE us SNV L9F =1(endome trium) OR5AN1:NM_00100 nonsynonymo 4729:exon1:c.G923A NA us SNV :p.R308K SYT7:NM_00125206 nonsynonymo 5:exon4:c.G298A:p. NA us SNV A100T AHNAK:NM_001620: nonsynonymo exon5:c.C12344T:p. NA us SNV P4115L AHNAK:NM_001620: nonsynonymo exon5:c.C8567A:p.T NA us SNV 2856K NA NA 383 0 0% 296 254 46.18% NA NA 133 0 0% 119 76 38.97% NA NA 107 0 0% 11 88 88.89% NA NA 252 0 0% 183 115 38.59% NA NA 258 0 0% 188 96 33.80% NA NA 33 0 0% 33 16 32.65% NA NA 111 0 0% 83 64 43.54% NA NA 103 1 0.96% 100 92 47.92% NA NA 221 0 0% 156 120 43.48% NA NA 30 0 0% 33 26 44.07% NA NA NA 518 0 0% 454 310 40.58% NA NA NA 62 0 0% 33 41 55.41% NA NA NA 371 0 0% 331 278 45.65% NA NA NA 373 0 0% 327 211 39.22% NA NA NA 184 0 0% 140 112 44.44% NA 227 0 0% 192 138 41.82% NA 50 0 0% 34 31 47.69% NA 45 0 0% 48 28 36.84% NA 70 0 0% 47 35 42.68% STIP1:NM_0012826 52:exon8:c.G1078A: p.E360K,STIP1:NM_ nonsynonymo 001282653:exon8:c. NA us SNV G865A:p.E289K,STI P1:NM_006819:exon 8:c.G937A:p.E313K NUDT8:NM_001243 nonsynonymo NUDT8 750:exon4:c.C506A: us SNV p.P169H PPP6R3:NM_00116 4163:exon19:c.C200 5T:p.P669S,PPP6R3 :NM_001164164:exo n19:c.C1852T:p.P61 8S,PPP6R3:NM_018 312:exon19:c.C1852 nonsynonymo T:p.P618S,PPP6R3: PPP6R3 us SNV NM_001164160:exo n20:c.C2092T:p.P69 8S,PPP6R3:NM_001 164161:exon20:c.C2 092T:p.P698S,PPP6 R3:NM_001164162:e xon20:c.C2074T:p.P 692S ATG16L2:NM_03338 nonsynonymo ATG16L2 8:exon17:c.G1675A: us SNV p.D559N ARHGEF17:NM_014 ARHGEF1 nonsynonymo 786:exon3:c.C3320T 7 us SNV :p.P1107L LIPT2:NM_00114486 nonsynonymo LIPT2 9:exon1:c.C373T:p.R us SNV 125C ID=COSM1 661799,CO FAT3:NM_00100878 nonsynonymo SM166180 FAT3 1:exon12:c.G9278A: NA us SNV 0;OCCUR p.R3093Q ENCE=1(ki dney) CCDC82:NM_02472 nonsynonymo CCDC82 5:exon8:c.C1277T:p. NA NA us SNV A426V DYNC2H1:NM_0010 80463:exon25:c.T36 nonsynonymo 38G:p.L1213R,DYN DYNC2H1 NA NA us SNV C2H1:NM_001377:e xon25:c.T3638G:p.L 1213R CASP1 CASP1:NM_033295: exon3:c.G137T:p.C4 6F,CASP1:NM_0332 94:exon6:c.G662T:p. C221F,CASP1:NM_0 01223:exon7:c.G102 2T:p.C341F,CASP1: nonsynonymo NM_001257119:exo NA us SNV n7:c.G1022T:p.C341 F,CASP1:NM_03329 3:exon7:c.G806T:p. C269F,CASP1:NM_0 01257118:exon8:c.G 1085T:p.C362F,CAS P1:NM_033292:exon 8:c.G1085T:p.C362F NA GRIA4:NM_0011128 12:exon9:c.C1207G: p.P403A,GRIA4:NM_ 000829:exon10:c.C1 207G:p.P403A,GRIA 4:NM_001077243:ex on10:c.C1207G:p.P4 03A,GRIA4:NM_001 077244:exon10:c.C1 207G:p.P403A GUCY1A2:NM_0012 56424:exon7:c.G190 6A:p.E636K USP28:NM_020886: exon9:c.G895A:p.E2 99K TECTA:NM_005422: exon8:c.G1987A:p.E 663K TECTA:NM_005422: exon10:c.G3217A:p. E1073K SORL1:NM_003105: exon41:c.C5524T:p. R1842C Index Negative MO_1109 11 105781209 105781209 C G GRIA4 nonsynonymo us SNV Index Negative MO_1109 11 106617300 106617300 C T GUCY1A2 nonsynonymo us SNV Index Negative MO_1109 11 113701604 113701604 C T USP28 nonsynonymo us SNV Index Negative MO_1109 11 120998673 120998673 G A TECTA nonsynonymo us SNV Index Negative MO_1109 11 121008405 121008405 G A TECTA nonsynonymo us SNV Index Negative MO_1109 11 121485684 121485684 C T SORL1 nonsynonymo us SNV NA T GRAMD1B:NM_001 286564:exon15:c.C1 531T:p.P511S,GRA GRAMD1 nonsynonymo MD1B:NM_020716:e NA B us SNV xon15:c.C1651T:p.P 551S,GRAMD1B:NM _001286563:exon16: c.C1672T:p.P558S Index Negative MO_1109 11 123484219 123484219 C Index Negative MO_1109 11 123994503 123994503 C T VWA5A nonsynonymo us SNV Index Negative MO_1109 11 124757664 124757664 C T ROBO4 nonsynonymo us SNV Index Negative MO_1109 11 132306563 132306563 C T OPCML nonsynonymo us SNV Index Negative MO_1109 12 3931100 3931100 G A PARP11 nonsynonymo us SNV Index Negative MO_1109 12 4881612 4881612 G A GALNT8 nonsynonymo us SNV Index Negative MO_1109 12 5021038 5021038 C T KCNA1 nonsynonymo us SNV Index Negative MO_1109 12 6634820 6634820 G C NCAPD2 nonsynonymo us SNV Index Negative MO_1109 12 6933078 6933078 G A GPR162 nonsynonymo us SNV Index Negative MO_1109 12 11138936 11138936 G A TAS2R50 nonsynonymo us SNV Index Negative MO_1109 12 16507256 16507256 C T MGST1 nonsynonymo us SNV Index Negative MO_1109 12 25034318 25034318 C T BCAT1 nonsynonymo us SNV VWA5A:NM_014622 :exon9:c.C1156T:p.P 386S,VWA5A:NM_1 98315:exon9:c.C115 6T:p.P386S,VWA5A: NM_001130142:exo n10:c.C1156T:p.P38 6S ROBO4:NM_019055: exon13:c.G2021A:p. G674E OPCML:NM_002545 :exon5:c.G775A:p.E 259K,OPCML:NM_0 01012393:exon6:c.G 754A:p.E252K PARP11:NM_00128 6521:exon5:c.C244T :p.R82C,PARP11:N M_001286522:exon6 :c.C244T:p.R82C,PA RP11:NM_020367:e xon6:c.C487T:p.R16 3C GALNT8:NM_01741 7:exon11:c.G1763A: p.G588E KCNA1:NM_000217: exon2:c.C494T:p.P1 65L NCAPD2:NM_01486 5:exon18:c.G2286C: p.E762D GPR162:NM_01985 8:exon2:c.G14A:p.G 5E TAS2R50:NM_17689 0:exon1:c.C524T:p.S 175L MGST1:NM_001260 511:exon2:c.C70T:p. L24F,MGST1:NM_00 1260512:exon2:c.C7 0T:p.L24F,MGST1:N M_001267598:exon2 :c.C70T:p.L24F,MGS T1:NM_020300:exon 2:c.C70T:p.L24F,MG ST1:NM_145764:exo n2:c.C70T:p.L24F,M GST1:NM_145791:e xon2:c.C70T:p.L24F, MGST1:NM_145792: exon2:c.C70T:p.L24 F BCAT1:NM_0011780 93:exon4:c.G343A:p. G115R,BCAT1:NM_ 001178094:exon4:c. G304A:p.G102R,BC AT1:NM_005504:exo n4:c.G307A:p.G103 R NA NA NA 121 0 0% 90 59 39.60% NA NA NA 103 0 0% 69 67 49.26% NA NA NA 104 0 0% 82 56 40.58% NA NA NA 876 1 0.11% 649 485 42.77% rs139732 688 466 1 0.21% 381 234 38.05% NA NA 234 0 0% 169 112 39.86% NA NA 213 1 0.47% 161 81 33.47% NA NA NA 75 0 0% 65 53 44.92% NA NA NA 40 0 0% 52 31 37.35% NA NA NA 185 1 0.54% 112 89 44.28% NA NA rs377497 123 55 0 0% 43 25 36.76% NA NA NA 95 0 0% 71 48 40.34% NA NA NA 370 0 0% 260 210 44.68% NA NA NA 46 0 0% 39 43 52.44% NA NA NA 66 0 0% 58 100 63.29% NA NA NA 153 0 0% 115 14 10.85% NA NA NA 48 0 0% 27 27 NA NA NA 79 0 0% 50 31 38.27% NA 0.0001997 50% Index Negative MO_1109 12 30882073 30882073 C T CAPRIN2:NM_00100 2259:exon8:c.G1291 A:p.E431K,CAPRIN2 :NM_001206856:exo nonsynonymo n8:c.G1291A:p.E431 CAPRIN2 NA us SNV K,CAPRIN2:NM_023 925:exon8:c.G1291A :p.E431K,CAPRIN2: NM_032156:exon8:c .G1291A:p.E431K Index Negative MO_1109 12 42707731 42707731 G A ZCRB1 Index Negative MO_1109 12 45169839 45169839 G A Index Negative MO_1109 12 51748249 51748249 C T Index Negative MO_1109 12 51868918 51868918 T G Index Negative MO_1109 12 52174494 52174494 C T Index Negative MO_1109 12 53320197 53320197 C T Index Negative MO_1109 12 53613858 53613858 G A Index Negative MO_1109 12 53818666 53818666 G A Index Negative MO_1109 12 54893199 54893199 C T Index Negative MO_1109 12 54974805 54974805 C T Index Negative MO_1109 12 55846749 55846749 G A Index Negative MO_1109 12 56479065 56479065 C T Index Negative MO_1109 12 56515449 56515449 C T Index Negative MO_1109 12 57389288 57389288 G A Index Negative MO_1109 12 57485479 57485479 G A Index Negative MO_1109 12 58019418 58019418 G A Index Negative MO_1109 12 70988398 70988398 C T Index Negative MO_1109 12 72028560 72028560 C T Index Negative MO_1109 12 72030314 72030314 G A Index Negative MO_1109 12 101577958 101577958 C T ZCRB1:NM_033114: nonsynonymo exon6:c.C391T:p.P1 us SNV 31S NELL2:NM_0011451 08:exon8:c.C857T:p. S286F,NELL2:NM_0 01145109:exon8:c.C 854T:p.S285F,NELL nonsynonymo 2:NM_001145107:ex NELL2 us SNV on9:c.C1007T:p.S33 6F,NELL2:NM_0011 45110:exon9:c.C926 T:p.S309F,NELL2:N M_006159:exon9:c. C857T:p.S286F GALNT6:NM_00721 nonsynonymo GALNT6 0:exon12:c.G1783A: us SNV p.G595S SLC4A8:NM_001039 960:exon16:c.T2100 G:p.I700M,SLC4A8: nonsynonymo NM_001258401:exo SLC4A8 us SNV n16:c.T1941G:p.I647 M,SLC4A8:NM_0012 58403:exon16:c.T19 41G:p.I647M SCN8A:NM_014191: nonsynonymo SCN8A exon21:c.C3881T:p. us SNV S1294F KRT8:NM_00125628 nonsynonymo KRT8 2:exon1:c.G37A:p.G us SNV 13R RARG:NM_0012437 nonsynonymo RARG 32:exon1:c.C143T:p. us SNV P48L AMHR2:NM_001164 690:exon3:c.G406A: p.G136S,AMHR2:N nonsynonymo M_001164691:exon3 AMHR2 us SNV :c.G406A:p.G136S,A MHR2:NM_020547:e xon3:c.G406A:p.G13 6S NCKAP1L:NM_0011 84976:exon2:c.C13T nonsynonymo NCKAP1L :p.L5F,NCKAP1L:NM us SNV _005337:exon2:c.C1 63T:p.L55F NA NA 192 0 0% 139 120 46.33% NA NA NA 62 0 0% 27 30 52.63% NA NA NA 117 0 0% 111 74 NA NA NA 106 0 0% 120 74 38.14% NA NA NA 102 1 0.97% 98 65 39.88% NA NA NA 48 0 0% 50 52 50.98% NA NA NA 135 0 0% 109 94 46.31% NA NA NA 85 0 0% 81 77 48.73% NA NA NA 121 0 0% 93 81 46.55% NA NA NA 84 0 0% 90 70 43.75% NA 95 0 0% 100 84 45.65% NA 178 0 0% 144 121 45.66% NA 232 1 0.43% 182 151 45.35% NA 456 1 0.22% 314 288 47.84% NA 642 2 0.31% 463 390 45.72% NA 95 0 0% 68 77 53.10% NA 397 0 0% 303 229 43.05% NA 337 0 0% 320 224 41.18% NA 32 0 0% 25 14 35.90% NA 70 0 0% 83 47 36.15% NA 39 0 0% 28 17 37.78% ID=COSM4 31420,CO PPP1R1A:NM_0067 nonsynonymo SM147671 PPP1R1A 41:exon6:c.G433A:p. NA us SNV 0;OCCUR E145K ENCE=1(br east) OR6C2:NM_054105: nonsynonymo OR6C2 exon1:c.G752A:p.G2 NA NA us SNV 51E ERBB3:NM_001005 nonsynonymo ERBB3 915:exon3:c.C521T: NA NA us SNV p.S174F ZC3H10:NM_032786 nonsynonymo ZC3H10 :exon3:c.C1103T:p.A NA NA us SNV 368V GPR182:NM_00726 nonsynonymo GPR182 4:exon2:c.G295A:p. NA NA us SNV D99N NAB2:NM_005967:e nonsynonymo NAB2 xon2:c.G655A:p.G21 NA NA us SNV 9R SLC26A10:NM_1334 SLC26A1 nonsynonymo 89:exon14:c.G1582A NA NA 0 us SNV :p.D528N PTPRB:NM_001206 971:exon4:c.G711A: p.M237I,PTPRB:NM _001206972:exon4:c nonsynonymo .G711A:p.M237I,PT PTPRB NA NA us SNV PRB:NM_002837:ex on4:c.G711A:p.M237 I,PTPRB:NM_00110 9754:exon6:c.G1365 A:p.M455I ZFC3H1:NM_144982 nonsynonymo ZFC3H1 :exon11:c.G2284A:p. NA NA us SNV D762N ZFC3H1:NM_144982 nonsynonymo ZFC3H1 :exon9:c.C2056T:p.P NA NA us SNV 686S SLC5A8:NM_145913 nonsynonymo SLC5A8 :exon8:c.G1006A:p. NA NA us SNV G336R 40% Index Negative MO_1109 12 101776879 101776879 G A Index Negative MO_1109 12 110824147 110824147 G A Index Negative MO_1109 12 111758046 111758046 G A Index Negative MO_1109 12 114358483 114358483 G A Index Negative MO_1109 12 122255375 122255375 C T Index Negative MO_1109 12 124383301 124383301 G A Index Negative MO_1109 12 124401061 124401061 G A Index Negative MO_1109 12 125834546 125834546 G A UTP20:NM_014503: nonsynonymo exon59:c.G7717A:p. us SNV D2573N ANAPC7:NM_00113 7664:exon6:c.C904T nonsynonymo ANAPC7 :p.P302S,ANAPC7:N us SNV M_016238:exon6:c. C904T:p.P302S CUX2:NM_015267:e nonsynonymo CUX2 xon17:c.G2233A:p.V us SNV 745M RBM19:NM_001146 698:exon19:c.C2318 T:p.S773F,RBM19:N nonsynonymo M_001146699:exon1 RBM19 us SNV 9:c.C2318T:p.S773F ,RBM19:NM_016196 :exon19:c.C2318T:p. S773F SETD1B:NM_01504 nonsynonymo SETD1B 8:exon8:c.C3077T:p. us SNV P1026L DNAH10:NM_20743 nonsynonymo DNAH10 7:exon55:c.G9226A: us SNV p.A3076T DNAH10:NM_20743 nonsynonymo DNAH10 7:exon62:c.G10426A us SNV :p.G3476R TMEM132B:NM_052 TMEM132 nonsynonymo 907:exon2:c.G601A: B us SNV p.E201K UTP20 0% 44 33 42.86% 120 1 0.83% 93 60 39.22% NA 246 0 0% 212 180 45.92% NA NA 104 0 0% 96 59 38.06% NA NA NA 338 0 0% 277 237 46.11% NA NA NA 136 0 0% 135 98 42.06% NA NA NA 65 1 1.52% 65 40 38.10% NA NA NA 334 0 0% 249 192 43.54% PUS1:NM_00100201 9:exon5:c.G1057A:p. E353K,PUS1:NM_00 nonsynonymo 1002020:exon5:c.G1 NA us SNV 057A:p.E353K,PUS1 :NM_025215:exon5: c.G1141A:p.E381K NA NA 287 0 0% 187 195 51.05% NA NA NA 279 0 0% 204 154 43.02% NA NA NA 67 0 0% 49 33 40.24% NA NA NA 91 0 0% 78 56 41.79% NA NA NA 30 0 0% 30 12 28.57% NA NA NA 64 0 0% 58 22 27.50% NA NA NA 93 0 0% 74 66 47.14% NA NA NA 18 0 0% 15 19 55.88% POSTN POSTN:NM_001135 934:exon16:c.C1994 T:p.P665L,POSTN:N M_001135935:exon1 6:c.C1994T:p.P665L ,POSTN:NM_001135 936:exon16:c.C1994 T:p.P665L,POSTN:N nonsynonymo M_001286665:exon1 NA us SNV 6:c.C1994T:p.P665L ,POSTN:NM_001286 666:exon16:c.C1994 T:p.P665L,POSTN:N M_001286667:exon1 6:c.C1994T:p.P665L ,POSTN:NM_006475 :exon16:c.C1994T:p. P665L NA NA 32 0 0% 33 21 38.89% AKAP11 ID=COSM1 AKAP11:NM_016248 88241;OC nonsynonymo :exon8:c.C1513T:p.R CURENCE NA us SNV 505C =1(large_in testine) NA 96 0 0% 77 60 43.80% Index Negative MO_1109 12 132426433 132426433 G A PUS1 Index Negative MO_1109 13 21562123 21562123 G A LATS2 Index Negative MO_1109 13 24413864 24413864 G A MIPEP Index Negative MO_1109 13 29242690 29242690 G A POMP Index Negative MO_1109 13 31722604 31722604 G A HSPH1 Index Negative MO_1109 13 31729728 31729728 C T HSPH1 Index Negative MO_1109 13 35751190 35751190 C T NBEA Index Negative MO_1109 13 37546124 37546124 G A ALG5 Index Index Negative MO_1109 Negative MO_1109 13 13 38151904 42874395 38151904 G 42874395 C A T LATS2:NM_014572: nonsynonymo exon4:c.C1796T:p.P us SNV 599L MIPEP:NM_005932: nonsynonymo exon12:c.C1262T:p. us SNV A421V POMP:NM_015932:e nonsynonymo xon4:c.G243A:p.M81 us SNV I HSPH1:NM_001286 505:exon7:c.C923T: p.S308F,HSPH1:NM _001286503:exon9:c nonsynonymo .C1151T:p.S384F,H us SNV SPH1:NM_00128650 4:exon9:c.C1157T:p. S386F,HSPH1:NM_0 06644:exon9:c.C115 1T:p.S384F HSPH1:NM_001286 503:exon3:c.G229A: p.D77N,HSPH1:NM_ 001286504:exon3:c. nonsynonymo G235A:p.D79N,HSP us SNV H1:NM_001286505:e xon3:c.G235A:p.D79 N,HSPH1:NM_00664 4:exon3:c.G229A:p. D77N NBEA:NM_015678:e nonsynonymo xon28:c.C4612T:p.L us SNV 1538F ALG5:NM_00114236 4:exon6:c.C521T:p.S nonsynonymo 174L,ALG5:NM_013 us SNV 338:exon7:c.C611T: p.S204L NA NA NA 62 NA NA NA NA NA NA 0 Index Index Negative MO_1109 Negative MO_1109 13 13 51826011 58240614 51826011 G 58240614 C A T FAM124A:NM_0012 42312:exon3:c.G508 nonsynonymo FAM124A A:p.E170K,FAM124 NA us SNV A:NM_145019:exon4 :c.G616A:p.E206K PCDH17 Index Negative MO_1109 13 77529589 77529589 T G IRG1 Index Negative MO_1109 13 96622451 96622451 C T UGGT2 Index Negative MO_1109 13 99537265 99537265 G A DOCK9 NA NA 273 0 0% 23 149 86.63% ID=COSM1 PCDH17:NM_00104 nonsynonymo 706817;OC 0429:exon2:c.C2578 NA us SNV CURENCE T:p.P860S =1(skin) NA 84 0 0% 53 38 41.76% NA NA 164 0 0% 114 79 40.93% NA NA 39 0 0% 42 27 39.13% NA NA 113 0 0% 101 86 45.99% ID=COSM2 32557;OC NA CURENCE =1(skin) NA 135 0 0% 111 63 36.21% NA NA NA 55 0 0% 38 25 39.68% NA NA NA 183 0 0% 96 98 50.52% NA NA NA 469 0 0% 340 250 42.37% NA NA rs201851 527 216 0 0% 157 146 48.18% IRG1:NM_00125840 nonsynonymo 6:exon3:c.T388G:p.F NA us SNV 130V UGGT2:NM_020121: nonsynonymo exon12:c.G1250A:p. NA us SNV G417E DOCK9:NM_001130 049:exon21:c.C2345 nonsynonymo T:p.P782L,DOCK9:N NA us SNV M_001130050:exon2 1:c.C2342T:p.P781L Index Negative MO_1109 13 102227873 102227873 G A ITGBL1 nonsynonymo us SNV Index Negative MO_1109 13 102378986 102378986 G A FGF14 nonsynonymo us SNV Index Negative MO_1109 13 103386137 103386137 C T CCDC168 nonsynonymo us SNV Index Negative MO_1109 14 21793066 21793066 G A RPGRIP1 nonsynonymo us SNV Index Negative MO_1109 14 22133789 22133789 C T OR4E2 nonsynonymo us SNV ITGBL1:NM_001271 754:exon3:c.G139A: p.D47N,ITGBL1:NM_ 001271755:exon3:c. G415A:p.D139N,ITG BL1:NM_001271756: exon3:c.G283A:p.D9 5N,ITGBL1:NM_004 791:exon4:c.G562A: p.D188N FGF14:NM_004115: exon4:c.C583T:p.H1 95Y,FGF14:NM_175 929:exon4:c.C598T: p.H200Y CCDC168:NM_0011 46197:exon4:c.G169 10A:p.R5637K RPGRIP1:NM_0203 66:exon14:c.G2052A :p.M684I OR4E2:NM_001001 912:exon1:c.C493T: p.R165C CPNE6:NM_006032: exon2:c.C61T:p.R21 W,CPNE6:NM_0012 80558:exon3:c.C226 T:p.R76W PRKD1:NM_002742: exon10:c.A1432C:p. K478Q RALGAPA1:NM_014 990:exon18:c.T2475 A:p.N825K,RALGAP A1:NM_194301:exon 18:c.T2475A:p.N825 K,RALGAPA1:NM_0 01283044:exon19:c. T2616A:p.N872K FSCB:NM_032135:e xon1:c.G1417A:p.E4 73K LRR1:NM_152329:e xon3:c.C464T:p.S15 5F MGAT2:NM_002408: exon1:c.G1295A:p.G 432E EXOC5:NM_006544: exon14:c.C1480T:p. H494Y SIX4:NM_017420:ex on2:c.G1396A:p.G46 6R ZBTB1:NM_0011233 29:exon2:c.G526A:p. D176N,ZBTB1:NM_0 14950:exon2:c.G526 A:p.D176N ID=COSM9 54857;OC CURENCE NA =1(endome trium) NA 53 0 0% 52 38 42.22% NA NA rs558528 13 75 0 0% 47 30 38.96% NA NA NA 17 0 0% 10 13 56.52% NA NA NA 66 0 0% 32 38 54.29% NA NA NA 78 0 0% 76 60 44.12% NA NA NA 55 0 0% 25 34 57.63% NA NA NA 41 0 0% 31 39 55.71% NA NA NA 187 0 0% 145 102 41.30% NA Index Negative MO_1109 14 24542206 24542206 C T CPNE6 nonsynonymo us SNV Index Negative MO_1109 14 30100188 30100188 T G PRKD1 nonsynonymo us SNV Index Negative MO_1109 14 36155832 36155832 A T RALGAP A1 nonsynonymo us SNV Index Negative MO_1109 14 44974774 44974774 C T FSCB nonsynonymo us SNV Index Negative MO_1109 14 50074299 50074299 C T LRR1 nonsynonymo us SNV Index Negative MO_1109 14 50089281 50089281 G A MGAT2 nonsynonymo us SNV Index Negative MO_1109 14 57686086 57686086 G A EXOC5 nonsynonymo us SNV Index Negative MO_1109 14 61186631 61186631 C T SIX4 nonsynonymo us SNV Index Negative MO_1109 14 64988748 64988748 G A ZBTB1 nonsynonymo us SNV NA NA 148 1 0.67% 160 114 41.61% NA 177 1 0.56% 147 100 40.49% 0 0% 156 108 40.91% 1 1.41% 46 42 47.73% Index Negative MO_1109 14 68189388 68189388 C T RDH12 ID=COSM6 RDH12:NM_152443: nonsynonymo 98899;OC exon3:c.C29T:p.S10 NA us SNV CURENCE F =1(lung) Index Negative MO_1109 14 69994558 69994558 G A PLEKHD1 PLEKHD1:NM_0011 nonsynonymo 61498:exon12:c.G12 NA us SNV 60A:p.M420I NA NA 207 KCNK10 KCNK10:NM_02116 1:exon4:c.G647A:p. R216K,KCNK10:NM nonsynonymo _138317:exon4:c.G6 NA us SNV 62A:p.R221K,KCNK 10:NM_138318:exon 4:c.G662A:p.R221K NA NA 70 Index Negative MO_1109 14 88693738 88693738 C T Index Negative MO_1109 14 95570308 G A Index Negative MO_1109 14 103449967 103449967 C T Index Negative MO_1109 14 104433101 104433101 G A Index Negative MO_1109 14 105422971 105422971 C T Index Negative MO_1109 15 28513741 28513741 G A Index Negative MO_1109 15 38791061 38791061 C T Index Negative MO_1109 15 39875845 39875845 T A Index Negative MO_1109 15 95570308 42133066 42133066 G A Index Negative MO_1109 15 42480044 42480044 G A Index Negative MO_1109 15 43815337 43815337 G T Index Negative MO_1109 15 44086106 44086106 G C Index Negative MO_1109 15 49426561 49426561 G A Index Negative MO_1109 15 50838704 50838704 G A Index Negative MO_1109 15 51773610 51773610 G A Index Negative MO_1109 15 72640032 72640032 C T Index Negative MO_1109 15 78316746 78316746 G A Index Negative MO_1109 15 90015988 90015988 G A Index Negative MO_1109 16 449702 449702 G A DICER1 DICER1:NM_001195 573:exon20:c.C3425 T:p.S1142F,DICER1: NM_001271282:exo n21:c.C3425T:p.S11 42F,DICER1:NM_00 nonsynonymo 1291628:exon21:c.C NA us SNV 3425T:p.S1142F,DIC ER1:NM_177438:ex on21:c.C3425T:p.S1 142F,DICER1:NM_0 30621:exon23:c.C34 25T:p.S1142F NA NA 210 0 0% 178 125 41.25% NA NA NA 336 1 0.30% 252 189 42.86% NA NA NA 50 0 0% 52 29 35.80% NA NA NA 353 0 0% 287 219 43.28% NA NA NA 138 0 0% 9 NA NA NA 131 0 0% 18 87 82.86% NA NA NA 83 0 0% 14 77 84.62% PLA2G4B:NM_0011 14633:exon4:c.G314 A:p.G105E,JMJD7JMJD7PLA2G4B:NM_0011 PLA2G4B nonsynonymo 98588:exon9:c.G100 NA ,PLA2G4 us SNV 7A:p.G336E,JMJD7B PLA2G4B:NM_0050 90:exon9:c.G1007A: p.G336E NA NA 333 0 0% 31 234 88.30% NA NA NA 139 1 0.71% 6 99 94.29% NA NA NA 218 0 0% 21 132 86.27% NA NA NA 186 0 0% 25 158 86.34% NA NA NA 14 0 0% 5 11 68.75% NA NA NA 68 0 0% 7 46 86.79% NA NA NA 210 0 0% 30 179 85.65% NA NA NA 154 0 0% 23 NA NA NA 398 0 0% 41 228 84.76% NA NA NA 119 0 0% 11 65 85.53% NA NA NA 508 1 0.20% 431 322 42.76% CDC42BPB:NM_006 CDC42BP nonsynonymo 035:exon7:c.G817A: B us SNV p.E273K TDRD9:NM_153046: nonsynonymo TDRD9 exon5:c.G698A:p.G2 us SNV 33E AHNAK2:NM_13842 nonsynonymo AHNAK2 0:exon4:c.G269A:p. us SNV R90Q HERC2:NM_004667: nonsynonymo HERC2 exon12:c.C1468T:p. us SNV L490F RASGRP1:NM_0011 28602:exon14:c.G17 RASGRP nonsynonymo 02A:p.E568K,RASG 1 us SNV RP1:NM_005739:ex on15:c.G1807A:p.E6 03K THBS1:NM_003246: nonsynonymo THBS1 exon4:c.T655A:p.F2 us SNV 19I VPS39:NM_015289: nonsynonymo VPS39 exon6:c.G353T:p.C1 us SNV 18F MAP1A:NM_002373: nonsynonymo MAP1A exon4:c.G1666T:p.D us SNV 556Y SERF2:NM_0011998 75:exon3:c.G449C:p. nonsynonymo SERF2 R150P,SERF2:NM_0 us SNV 01199876:exon3:c.G 338C:p.R113P COPS2:NM_001143 887:exon7:c.C712T: nonsynonymo COPS2 p.P238S,COPS2:NM us SNV _004236:exon7:c.C6 91T:p.P231S nonsynonymo USP50:NM_203494: USP50 us SNV exon1:c.C19T:p.L7F DMXL2:NM_001174 117:exon22:c.C3785 T:p.P1262L,DMXL2: nonsynonymo NM_001174116:exo DMXL2 us SNV n24:c.C5693T:p.P18 98L,DMXL2:NM_015 263:exon24:c.C5693 T:p.P1898L HEXA:NM_000520:e nonsynonymo HEXA xon10:c.G1141A:p.V us SNV 381I TBC1D2B:NM_0150 79:exon6:c.C1222T: nonsynonymo TBC1D2B p.L408F,TBC1D2B:N us SNV M_144572:exon6:c. C1222T:p.L408F RHCG:NM_016321:e nonsynonymo RHCG xon10:c.C1418T:p.S us SNV 473F NME4:NM_0012864 33:exon3:c.G301A:p. G101R,NME4:NM_0 01286435:exon4:c.G 403A:p.G135R,NME 4:NM_001286436:ex on4:c.G193A:p.G65 R,NME4:NM_001286 nonsynonymo NME4 440:exon4:c.G193A: us SNV p.G65R,NME4:NM_0 05009:exon4:c.G403 A:p.G135R,NME4:N M_001286438:exon5 :c.G193A:p.G65R,N ME4:NM_001286439 :exon5:c.G193A:p.G 65R 66 77 88% 77% Index Negative MO_1109 16 546859 546859 G A RAB11FIP nonsynonymo 3 us SNV Index Negative MO_1109 16 1033870 1033870 G A SOX8 nonsynonymo us SNV Index Negative MO_1109 16 1488629 1488629 T C CCDC154 nonsynonymo us SNV Index Negative MO_1109 16 2812820 2812820 C T SRRM2 nonsynonymo us SNV Index Negative MO_1109 16 3452350 3452350 G A ZNF174 nonsynonymo us SNV Index Negative MO_1109 16 3458874 3458874 G T ZNF174 nonsynonymo us SNV Index Negative MO_1109 16 3721760 3721760 G A TRAP1 nonsynonymo us SNV Index Negative MO_1109 16 19556125 19556125 A T CCP110 nonsynonymo us SNV Index Negative MO_1109 16 22111738 22111738 G A VWA3A nonsynonymo us SNV Index Negative MO_1109 16 22268080 22268080 G A EEF2K nonsynonymo us SNV Index Negative MO_1109 16 22358774 22358774 C T CDR2 nonsynonymo us SNV Index Negative MO_1109 16 30096352 30096352 C T PPP4C nonsynonymo us SNV Index Negative MO_1109 16 30495174 30495174 G A ITGAL nonsynonymo us SNV Index Negative MO_1109 16 31075450 31075450 G A ZNF668 nonsynonymo us SNV Index Negative MO_1109 16 31120584 31120584 G A BCKDK nonsynonymo us SNV Index Negative MO_1109 16 31926864 31926864 G A ZNF267 nonsynonymo us SNV ZNF423 Index Negative MO_1109 16 49669572 49669572 C T Index Negative MO_1109 16 50136282 50136282 G A Index Negative MO_1109 16 58589224 58589224 G A Index Negative MO_1109 16 66788961 66788961 G A Index Negative MO_1109 16 67401036 67401036 G A Index Negative MO_1109 16 67469621 67469621 C T RAB11FIP3:NM_001 142272:exon4:c.G41 3A:p.R138K,RAB11F IP3:NM_014700:exo n6:c.G1301A:p.R434 K SOX8:NM_014587:e xon2:c.G565A:p.G18 9S CCDC154:NM_0011 43980:exon9:c.A101 6G:p.E339G SRRM2:NM_016333: exon11:c.C2291T:p. S764L ZNF174:NM_001032 292:exon1:c.G346A: p.E116K,ZNF174:N M_003450:exon1:c. G346A:p.E116K ZNF174:NM_003450 :exon3:c.G1179T:p. Q393H TRAP1:NM_0012720 49:exon10:c.C1039T :p.L347F,TRAP1:NM _016292:exon11:c.C 1198T:p.L400F CCP110:NM_001199 022:exon9:c.A2491T :p.M831L,CCP110:N M_014711:exon10:c. A2491T:p.M831L VWA3A:NM_173615 :exon5:c.G352A:p.E 118K EEF2K:NM_013302: exon7:c.G630A:p.M2 10I CDR2:NM_001802:e xon5:c.G877A:p.E29 3K PPP4C:NM_002720: exon9:c.C893T:p.S2 98F ITGAL:NM_0011143 80:exon6:c.G500A:p. G167E,ITGAL:NM_0 02209:exon8:c.G749 A:p.G250E ZNF668:NM_001172 668:exon2:c.C331T: p.P111S,ZNF668:N M_001172670:exon2 :c.C331T:p.P111S,Z NF668:NM_024706: exon2:c.C331T:p.P1 11S,ZNF668:NM_00 1172669:exon3:c.C4 00T:p.P134S BCKDK:NM_001122 957:exon2:c.G40A:p. G14R,BCKDK:NM_0 01271926:exon2:c.G 40A:p.G14R,BCKDK :NM_005881:exon2: c.G40A:p.G14R ZNF267:NM_003414 :exon4:c.G1294A:p. G432R,ZNF267:NM_ 001265588:exon5:c. G1198A:p.G400R NA NA NA 110 1 0.90% 89 80 47.34% NA NA NA 509 1 0.20% 439 356 44.78% NA NA NA 290 0 0% 312 183 36.97% NA NA NA 253 0 0% 204 133 39.47% NA NA NA 162 0 0% 144 NA NA NA 289 0 0% 200 147 42.36% NA NA NA 506 0 0% 397 322 44.78% NA NA NA 58 0 0% 66 NA NA NA 223 0 0% 166 156 48.45% NA NA NA 191 2 1.04% 131 90 40.72% NA NA NA 339 0 0% 242 209 46.34% NA NA NA 178 0 0% 148 141 48.79% NA NA NA 58 0 0% 50 42 45.65% NA NA NA 401 1 0.25% 258 197 43.30% NA NA NA 294 0 0% 236 253 51.74% NA NA NA 32 0 0% 28 16 36.36% ZNF423:NM_001271 620:exon4:c.G3311A nonsynonymo :p.R1104Q,ZNF423: NA us SNV NM_015069:exon4:c .G3491A:p.R1164Q NA NA 235 0 0% 195 161 45.22% NA NA NA 76 0 0% 55 41 42.71% NA NA NA 114 0 0% 109 89 44.95% NA NA NA 62 0 0% 55 34 38.20% NA NA NA 69 0 0% 52 48 NA NA NA 604 0 0% 515 HEATR3:NM_18292 nonsynonymo HEATR3 2:exon14:c.G1856A: us SNV p.R619K CNOT1:NM_001265 612:exon21:c.C2807 T:p.A936V,CNOT1:N nonsynonymo M_016284:exon21:c. CNOT1 us SNV C2822T:p.A941V,CN OT1:NM_206999:ex on21:c.C2822T:p.A9 41V CCDC79:NM_00113 nonsynonymo CCDC79 6505:exon19:c.C210 us SNV 2T:p.P701L LRRC36:NM_00116 1575:exon5:c.G508A nonsynonymo LRRC36 :p.E170K,LRRC36:N us SNV M_018296:exon8:c. G871A:p.E291K HSD11B2:NM_0001 nonsynonymo HSD11B2 96:exon2:c.C356T:p. us SNV P119L 96 34 40% 34% 48% 377 42.26% Index Negative MO_1109 16 72830801 72830801 G A ZFHX3 nonsynonymo us SNV Index Negative MO_1109 16 76482814 76482814 G A CNTNAP4 nonsynonymo us SNV Index Negative MO_1109 16 85135909 85135909 T C FAM92B nonsynonymo us SNV Index Negative MO_1109 16 86566060 86566060 G A MTHFSD nonsynonymo us SNV Index Negative MO_1109 16 86602389 86602389 C T FOXC2 nonsynonymo us SNV Index Negative MO_1109 16 89782949 89782949 C T VPS9D1 nonsynonymo us SNV Index Negative MO_1109 16 89967067 89967067 C T TCF25 nonsynonymo us SNV Index Negative MO_1109 17 649823 649823 T A GEMIN4 nonsynonymo us SNV Index Negative MO_1109 17 1549755 1549755 G A RILP nonsynonymo us SNV Index Negative MO_1109 17 7324478 7324478 G A SPEM1 nonsynonymo us SNV Index Negative MO_1109 17 7365320 7365320 G A ZBTB4 nonsynonymo us SNV Index Negative MO_1109 17 7793913 7793913 G A CHD3 nonsynonymo us SNV Index Negative MO_1109 17 7851873 7851873 C G CNTROB nonsynonymo us SNV Index Negative MO_1109 17 8050057 8050057 G A PER1 nonsynonymo us SNV Index Negative MO_1109 17 9862563 9862563 A G GAS7 nonsynonymo us SNV Index Negative MO_1109 17 9872998 9872998 G A GAS7 nonsynonymo us SNV Index Negative MO_1109 17 17701343 17701343 C T RAI1 nonsynonymo us SNV Index Negative MO_1109 17 21319426 21319426 G A KCNJ12,K nonsynonymo CNJ18 us SNV Index Negative MO_1109 17 25928921 25928921 C T KSR1 nonsynonymo us SNV Index Negative MO_1109 17 28418922 28418922 G A EFCAB5 nonsynonymo us SNV Index Negative MO_1109 17 33285622 33285622 A T CCT6B nonsynonymo us SNV ZFHX3:NM_0011647 66:exon8:c.C3038T: p.S1013F,ZFHX3:N M_006885:exon9:c. C5780T:p.S1927F CNTNAP4:NM_1389 94:exon6:c.G818A:p. R273Q FAM92B:NM_19849 1:exon6:c.A562G:p.I 188V MTHFSD:NM_00115 9377:exon8:c.C709T :p.P237S,MTHFSD: NM_001159378:exo n8:c.C709T:p.P237S ,MTHFSD:NM_0011 59379:exon8:c.C706 T:p.P236S,MTHFSD: NM_001159380:exo n8:c.C649T:p.P217S ,MTHFSD:NM_0227 64:exon8:c.C706T:p. P236S FOXC2:NM_005251: exon1:c.C1448T:p.S 483F VPS9D1:NM_00491 3:exon4:c.G352A:p. E118K TCF25:NM_014972: exon12:c.C1246T:p. P416S GEMIN4:NM_01572 1:exon2:c.A1460T:p. Y487F RILP:NM_031430:ex on8:c.C1187T:p.S39 6L SPEM1:NM_199339: exon3:c.G484A:p.G1 62R ZBTB4:NM_0011288 33:exon4:c.C2981T: p.P994L,ZBTB4:NM _020899:exon4:c.C2 981T:p.P994L CHD3:NM_0010052 71:exon3:c.G415A:p. E139K,CHD3:NM_00 1005273:exon3:c.G2 38A:p.E80K,CHD3:N M_005852:exon3:c. G238A:p.E80K CNTROB:NM_00103 7144:exon17:c.C244 9G:p.R817G,CNTRO B:NM_053051:exon1 7:c.C2449G:p.R817 G PER1:NM_002616:e xon15:c.C1762T:p.L 588F GAS7:NM_003644:e xon1:c.T61C:p.S21P ,GAS7:NM_0011308 31:exon5:c.T289C:p. S97P,GAS7:NM_201 432:exon5:c.T301C: p.S101P,GAS7:NM_ 201433:exon5:c.T48 1C:p.S161P GAS7:NM_00113083 1:exon4:c.C275T:p.S 92F,GAS7:NM_2014 32:exon4:c.C287T:p. S96F,GAS7:NM_201 433:exon4:c.C467T: p.S156F RAI1:NM_030665:ex on3:c.C5081T:p.A16 94V KCNJ18:NM_001194 958:exon3:c.G772A: p.G258S,KCNJ12:N M_021012:exon3:c. G772A:p.G258S KSR1:NM_014238:e xon12:c.C1102T:p.P 368S EFCAB5:NM_19852 9:exon21:c.G3971A: p.G1324E CCT6B:NM_001193 529:exon3:c.T293A: p.I98N,CCT6B:NM_0 06584:exon3:c.T293 A:p.I98N NA NA NA 384 0 0% 311 232 42.73% NA NA NA 206 0 0% 143 110 43.48% NA NA NA 45 0 0% 49 36 42.35% NA NA NA 239 0 0% 202 165 44.96% NA NA NA 337 1 0.30% 314 181 36.57% NA NA NA 180 0 0% 148 121 44.98% NA NA NA 234 1 0.43% 178 137 43.49% NA NA NA 241 0 0% 30 300 90.91% NA NA NA 187 0 0% 171 157 47.87% NA NA NA 237 0 0% 192 155 44.67% NA NA rs370289 163 131 1 0.76% 92 67 42.14% NA NA NA 137 0 0% 117 85 42.08% NA NA NA 302 0 0% 213 174 44.96% NA NA NA 215 0 0% 163 129 44.18% NA NA NA 189 1 0.53% 127 111 46.64% NA NA NA 285 0 0% 216 145 40.17% NA NA NA 597 0 0% 558 527 48.57% NA NA NA 1284 1 0.08% 1328 360 21.33% NA NA NA 73 0 0% 63 45 41.67% NA NA NA 159 0 0% 135 NA NA NA 73 0 0% 60 90 40% 23 27.71% Index Negative MO_1109 17 33690205 33690205 G A SLFN11 Index Negative MO_1109 17 34964214 34964214 G A MRM1 Index Negative MO_1109 17 36829866 36829866 G A Index Negative MO_1109 17 36966840 36966840 C A Index Negative MO_1109 17 38975078 38975078 G A Index Negative MO_1109 17 39092562 39092562 C T Index Negative MO_1109 17 40344682 40344682 G A Index Negative MO_1109 17 42463235 42463235 T C Index Negative MO_1109 17 42636453 42636453 C T SLFN11:NM_152270 :exon2:c.C622T:p.P2 08S,SLFN11:NM_00 1104589:exon3:c.C6 22T:p.P208S,SLFN1 nonsynonymo 1:NM_001104587:ex NA us SNV on4:c.C622T:p.P208 S,SLFN11:NM_0011 04588:exon4:c.C622 T:p.P208S,SLFN11: NM_001104590:exo n4:c.C622T:p.P208S NA NA 165 0 0% 120 99 45.21% NA NA NA 232 0 0% 191 164 46.20% NA NA NA 109 0 0% 79 89 52.98% NA NA NA 80 0 0% 69 66 48.89% NA NA NA 56 0 0% 54 42 43.75% NA NA NA 259 0 0% 177 146 45.20% NA NA rs150176 372 436 0 0% 338 270 44.41% NA NA NA 364 0 0% 311 240 43.56% NA NA NA 918 2 0.22% 737 628 46.01% CRHR1:NM_001145 146:exon3:c.C135G: p.N45K,CRHR1:NM_ nonsynonymo 001145148:exon3:c. NA us SNV C135G:p.N45K,CRH R1:NM_004382:exon 3:c.C135G:p.N45K NA NA 186 0 0% 192 184 48.94% NA NA NA 118 0 0% 102 74 42.05% NA NA NA 146 0 0% 121 122 50.21% NA NA NA 51 1 1.92% 57 34 37.36% NA NA NA 222 0 0% 197 123 38.44% NA NA NA 241 0 0% 177 135 43.27% NA NA NA 77 0 0% 50 49 49.49% NA NA NA 61 0 0% 39 43 52.44% NA NA NA 544 0 0% 471 335 41.56% NA NA NA 105 0 0% 78 74 48.68% NA NA NA 163 0 0% 140 130 48.15% NA NA NA 71 0 0% 43 40 48.19% NA NA NA 224 0 0% 161 128 44.29% NA NA NA 472 0 0% 278 201 41.96% NA NA NA 89 0 0% 92 58 38.67% NA NA NA 164 0 0% 140 84 37.50% NA NA NA 105 1 0.94% 63 47 42.73% MRM1:NM_024864:e nonsynonymo xon3:c.G745A:p.E24 us SNV 9K C17orf96:NM_00113 nonsynonymo C17orf96 0677:exon1:c.C883T us SNV :p.P295S CWC25:NM_017748 nonsynonymo CWC25 :exon5:c.G507T:p.M us SNV 169I KRT10:NM_000421: nonsynonymo KRT10 exon7:c.C1709T:p.S us SNV 570F KRT23:NM_015515: nonsynonymo KRT23 exon2:c.G294A:p.M9 us SNV 8I GHDC:NM_0011426 22:exon5:c.C349T:p. L117F,GHDC:NM_0 nonsynonymo GHDC 01142623:exon5:c.C us SNV 466T:p.L156F,GHDC :NM_032484:exon5: c.C466T:p.L156F ITGA2B:NM_000419 nonsynonymo ITGA2B :exon3:c.A365G:p.Q us SNV 122R FZD2:NM_001466:e nonsynonymo FZD2 xon1:c.C1397T:p.S4 us SNV 66F Index Negative MO_1109 17 43893842 43893842 C G CRHR1 Index Negative MO_1109 17 45695762 45695762 G T NPEPPS Index Negative MO_1109 17 48068894 48068894 C T Index Negative MO_1109 17 55062787 55062787 G A Index Negative MO_1109 17 56345191 56345191 G A Index Negative MO_1109 17 62041094 62041094 C T Index Negative MO_1109 17 67031472 67031472 G A Index Negative MO_1109 17 67183963 67183963 G A Index Negative MO_1109 17 72916096 72916096 C T Index Negative MO_1109 17 73839572 73839572 G A Index Negative MO_1109 17 76510914 76510914 T A Index Negative MO_1109 18 743319 743319 C T Index Negative MO_1109 18 5416311 5416311 G A Index Negative MO_1109 18 7231251 7231251 G A Index Negative MO_1109 18 12009932 12009932 A T Index Negative MO_1109 18 22805510 22805510 G A Index Negative MO_1109 18 25565092 25565092 G A NPEPPS:NM_00631 nonsynonymo 0:exon20:c.G2342T: us SNV p.R781I DLX3:NM_005220:e nonsynonymo DLX3 xon3:c.G851A:p.G28 us SNV 4E SCPEP1:NM_02162 nonsynonymo SCPEP1 6:exon3:c.G274A:p. us SNV G92R LPO:NM_001160102 :exon11:c.G1726A:p. nonsynonymo LPO D576N,LPO:NM_006 us SNV 151:exon13:c.G1975 A:p.D659N SCN4A:NM_000334: nonsynonymo SCN4A exon10:c.G1544A:p. us SNV G515E ABCA9:NM_080283: nonsynonymo ABCA9 exon8:c.C1043T:p.P us SNV 348L ABCA10:NM_08028 nonsynonymo ABCA10 2:exon20:c.C2189T: us SNV p.S730F USH1G:NM_001282 489:exon2:c.G526A: nonsynonymo USH1G p.D176N,USH1G:NM us SNV _173477:exon2:c.G8 35A:p.D279N UNC13D:NM_19924 nonsynonymo UNC13D 2:exon2:c.C146T:p.P us SNV 49L DNAH17:NM_17362 nonsynonymo DNAH17 8:exon26:c.A4055T: us SNV p.E1352V YES1:NM_005433:e nonsynonymo YES1 xon7:c.G821A:p.R27 us SNV 4Q EPB41L3:NM_01230 nonsynonymo EPB41L3 7:exon13:c.C1573T: us SNV p.P525S LRRC30:NM_00110 nonsynonymo LRRC30 5581:exon1:c.G115A us SNV :p.D39N IMPA2:NM_014214: nonsynonymo IMPA2 exon3:c.A281T:p.H9 us SNV 4L ZNF521:NM_015461 nonsynonymo ZNF521 :exon4:c.C2372T:p.S us SNV 791F CDH2:NM_001792:e nonsynonymo CDH2 xon13:c.C2081T:p.S us SNV 694F Index Negative MO_1109 18 29848705 29848705 G A GAREM nonsynonymo us SNV Index Negative MO_1109 18 33828938 33828938 C T MOCOS nonsynonymo us SNV Index Negative MO_1109 18 34289099 34289099 G A FHOD3 nonsynonymo us SNV Index Negative MO_1109 18 44261972 44261972 C T ST8SIA5 nonsynonymo us SNV Index Negative MO_1109 18 64178898 64178898 C T CDH19 nonsynonymo us SNV Index Negative MO_1109 18 66678318 66678318 G A CCDC102 nonsynonymo B us SNV Index Negative MO_1109 18 67776852 67776852 G A RTTN Index Negative MO_1109 18 72103785 72103785 C T Index Negative MO_1109 18 72245554 72245554 G A Index Negative MO_1109 18 77893865 77893865 G A Index Negative MO_1109 19 2733134 2733134 G A Index Negative MO_1109 19 3492391 3492391 G A Index Negative MO_1109 19 4054459 4054459 G A Index Negative MO_1109 19 7573248 7573248 G A nonsynonymo us SNV GAREM:NM_001242 409:exon6:c.C1760T :p.P587L,GAREM:N M_022751:exon6:c. C1757T:p.P586L MOCOS:NM_017947 :exon10:c.C2014T:p. R672C FHOD3:NM_001281 739:exon14:c.G1702 A:p.E568K,FHOD3:N M_025135:exon15:c. G1753A:p.E585K,FH OD3:NM_001281740 :exon18:c.G2278A:p. E760K ST8SIA5:NM_01330 5:exon6:c.G625A:p. D209N CDH19:NM_021153: exon10:c.G1483A:p. D495N CCDC102B:NM_024 781:exon7:c.G1411A :p.G471R,CCDC102 B:NM_001093729:ex on9:c.G1411A:p.G47 1R RTTN:NM_173630:e xon28:c.C3785T:p.S 1262F NA NA NA 143 0 0% 65 59 47.58% NA NA NA 133 0 0% 96 74 43.53% NA NA NA 355 0 0% 277 210 43.12% NA NA NA 121 0 0% 93 85 47.75% NA NA NA 29 0 0% 24 16 NA NA NA 68 0 0% 37 43 53.75% NA NA NA 170 0 0% 120 98 44.95% NA 128 0 0% 73 54 42.52% NA 79 0 0% 64 38 37.25% NA 175 2 1.13% 132 90 40.54% NA 677 2 0.29% 591 460 43.77% NA 133 0 0% 112 93 45.37% NA 48 0 0% 39 rs137985 193 166 0 0% 147 95 39.26% NA 575 1 0.17% 356 253 41.54% ID=COSM3 422312,CO FAM69C:NM_00104 SM342231 nonsynonymo FAM69C 4369:exon4:c.G1211 3;OCCUR NA us SNV A:p.R404H ENCE=1(la rge_intesti ne) CNDP1:NM_032649: nonsynonymo CNDP1 exon9:c.G1159A:p.E NA NA us SNV 387K ADNP2:NM_014913: nonsynonymo ADNP2 exon4:c.G569A:p.R1 NA NA us SNV 90K SLC39A3:NM_14456 nonsynonymo SLC39A3 4:exon3:c.C560T:p.A NA NA us SNV 187V DOHH:NM_0011451 65:exon4:c.C458T:p. nonsynonymo DOHH A153V,DOHH:NM_0 NA NA us SNV 31304:exon4:c.C458 T:p.A153V ZBTB7A:NM_015898 nonsynonymo ZBTB7A :exon2:c.C772T:p.P2 NA NA us SNV 58S C19orf45:NM_19853 nonsynonymo C19orf45 4:exon9:c.G1450A:p. NA NA us SNV G484S Index Negative MO_1109 19 8183843 8183843 C T FBN3 Index Negative MO_1109 19 8563284 8563284 G A PRAM1 Index Negative MO_1109 19 9075874 9075874 G A Index Negative MO_1109 19 9213403 9213403 C T Index Negative MO_1109 19 10444057 10444057 C T Index Negative MO_1109 19 10599885 10599885 C T Index Negative MO_1109 19 10741970 10741970 C T Index Negative MO_1109 19 11470259 11470259 G A Index Negative MO_1109 19 11598201 11598201 C T ID=COSM2 FBN3:NM_032447:e nonsynonymo 31396;OC xon25:c.G3275A:p.G NA us SNV CURENCE 1092E =1(skin) PRAM1:NM_032152: nonsynonymo exon2:c.C1408T:p.R us SNV 470W MUC16:NM_024690: nonsynonymo MUC16 exon3:c.C11572T:p. us SNV L3858F OR7G2:NM_001005 nonsynonymo OR7G2 193:exon1:c.G580A: us SNV p.E194K RAVER1:NM_13345 nonsynonymo RAVER1 2:exon1:c.G178A:p. us SNV E60K KEAP1:NM_012289: exon5:c.G1691A:p.G nonsynonymo KEAP1 564E,KEAP1:NM_20 us SNV 3500:exon5:c.G1691 A:p.G564E SLC44A2:NM_00114 5056:exon6:c.C344T nonsynonymo SLC44A2 :p.P115L,SLC44A2: us SNV NM_020428:exon6:c .C350T:p.P117L LPPR2:NM_022737: nonsynonymo LPPR2 exon4:c.G118A:p.D4 us SNV 0N ZNF653:NM_138783 nonsynonymo ZNF653 :exon4:c.G1077A:p. us SNV M359I 39 40% 50% NA NA NA 107 0 0% 86 60 41.10% NA NA NA 303 0 0% 211 143 40.40% NA NA NA 352 0 0% 244 185 43.12% NA NA NA 375 0 0% 295 195 39.80% NA NA NA 103 0 0% 75 62 45.26% NA NA NA 373 0 0% 331 257 43.71% NA NA NA 611 1 0.16% 491 365 42.64% NA NA NA 577 0 0% 478 384 44.55% NA 172 0 0% 132 109 45.23% NA 921 2 0.22% 614 509 45.33% Index Negative MO_1109 19 14910186 14910186 C T OR7C1 ID=COSM3 712732;OC OR7C1:NM_198944: nonsynonymo CURENCE exon1:c.G763A:p.G2 NA us SNV =1(upper_ 55S aerodigesti ve_tract) Index Negative MO_1109 19 15198198 15198198 G A OR1I1 OR1I1:NM_0010047 nonsynonymo 13:exon1:c.G322A:p. NA us SNV G108R NA Index Negative MO_1109 19 15289944 15289944 C T Index Negative MO_1109 19 16506268 16506268 A T Index Negative MO_1109 19 17722626 17722626 G A Index Negative MO_1109 19 18971139 18971139 T G Index Negative MO_1109 19 33422397 33422397 G A Index Negative MO_1109 19 36041927 36041927 T C Index Negative MO_1109 19 36304143 36304143 G A Index Negative MO_1109 19 36353844 36353844 C T Index Negative MO_1109 19 36939913 36939913 G A NOTCH3:NM_00043 nonsynonymo 5:exon22:c.G3610A: us SNV p.A1204T EPS15L1:NM_00125 8374:exon17:c.T180 2A:p.F601Y,EPS15L nonsynonymo 1:NM_001258375:ex EPS15L1 us SNV on17:c.T1802A:p.F6 01Y,EPS15L1:NM_0 21235:exon17:c.T18 02A:p.F601Y UNC13A:NM_00108 nonsynonymo UNC13A 0421:exon40:c.C459 us SNV 7T:p.H1533Y UPF1:NM_00129754 9:exon16:c.T2225G: nonsynonymo UPF1 p.V742G,UPF1:NM_ us SNV 002911:exon16:c.T2 192G:p.V731G CEP89:NM_032816: nonsynonymo CEP89 exon9:c.C967T:p.H3 us SNV 23Y ATP4A:NM_000704: nonsynonymo ATP4A exon20:c.A2972G:p. us SNV N991S PRODH2:NM_02123 nonsynonymo PRODH2 2:exon1:c.C41T:p.S1 us SNV 4F KIRREL2:NM_19917 9:exon12:c.C1481T: p.S494F,KIRREL2:N nonsynonymo M_032123:exon13:c. KIRREL2 us SNV C1631T:p.S544F,KI RREL2:NM_199180: exon13:c.C1631T:p. S544F NOTCH3 ZNF566 Index Negative MO_1109 19 37309635 37309635 T A ZNF790 Index Negative MO_1109 19 37835655 37835655 T G HKR1 Index Negative MO_1109 19 38102651 38102651 C T ZNF540 Index Negative MO_1109 19 38379618 38379618 C T WDR87 Index Negative MO_1109 19 39216395 39216395 G A ACTN4 Index Negative MO_1109 19 39230812 39230812 G A Index Negative MO_1109 19 39868297 39868297 C T Index Negative MO_1109 19 40542228 40542228 G A Index Negative MO_1109 19 42818481 42818481 C T Negative MO_1109 19 42866268 42866268 C T MEGF8 Index Negative MO_1109 19 44352362 44352362 C T ZNF283 Index Negative MO_1109 19 45315432 45315432 G A BCAM NA NA NA NA rs145871 172 NA NA NA NA NA NA NA NA 538 0 0% 368 40 0 0% 39 332 1 0.30% 220 177 44.58% NA 164 0 0% 134 113 45.75% NA NA 68 0 0% 40 28 41.18% NA NA 351 1 0.28% 231 190 45.13% 0.0059904 rs138605 929 295 44.49% 21 35% 70 0 0% 61 38 38.38% NA NA NA 257 0 0% 206 149 41.97% ZNF566:NM_001145 343:exon5:c.C1226T :p.P409L,ZNF566:N M_001145344:exon5 nonsynonymo :c.C1223T:p.P408L, NA us SNV ZNF566:NM_001145 345:exon5:c.C1223T :p.P408L,ZNF566:N M_032838:exon5:c. C1223T:p.P408L NA NA 54 0 0% 39 20 33.90% NA NA 160 0 0% 140 101 41.91% NA NA 123 0 0% 86 75 46.58% NA NA 68 0 0% 53 38 41.76% NA NA 424 1 0.24% 346 208 37.55% NA NA NA 277 0 0% 274 196 41.70% NA NA NA 114 0 0% 76 54 41.54% NA NA NA 180 0 0% 169 138 44.95% NA NA NA 72 0 0% 52 61 53.98% NA NA NA 184 0 0% 136 100 42.37% MEGF8:NM_001410: exon32:c.C5546T:p. nonsynonymo S1849F,MEGF8:NM NA us SNV _001271938:exon33: c.C5747T:p.S1916F NA NA 249 0 0% 207 158 43.29% NA NA 152 0 0% 116 94 44.76% NA NA 395 0 0% 262 216 45.19% ZNF790:NM_001242 800:exon5:c.A1611T :p.K537N,ZNF790:N M_001242801:exon5 nonsynonymo :c.A1611T:p.K537N, NA us SNV ZNF790:NM_001242 802:exon5:c.A1611T :p.K537N,ZNF790:N M_206894:exon5:c.A 1611T:p.K537N HKR1:NM_181786:e nonsynonymo xon3:c.T69G:p.C23 NA us SNV W ZNF540:NM_001172 226:exon4:c.C374T: p.S125F,ZNF540:NM nonsynonymo _001172225:exon5:c NA us SNV .C470T:p.S157F,ZN F540:NM_152606:ex on5:c.C470T:p.S157 F WDR87:NM_001291 088:exon6:c.G4693A nonsynonymo :p.E1565K,WDR87:N NA us SNV M_031951:exon6:c. G4576A:p.E1526K ACTN4:NM_004924: nonsynonymo exon17:c.G2042A:p. us SNV G681E CAPN12:NM_14469 nonsynonymo CAPN12 1:exon5:c.C608T:p.A us SNV 203V SAMD4B:NM_01802 nonsynonymo SAMD4B 8:exon10:c.C1277T: us SNV p.P426L ZNF780B:NM_00100 nonsynonymo ZNF780B 5851:exon5:c.C538T us SNV :p.L180F TMEM145:NM_1736 nonsynonymo TMEM145 33:exon2:c.C178T:p. us SNV R60C Index NA ZNF283:NM_181845 nonsynonymo :exon7:c.C1609T:p.H NA us SNV 537Y BCAM:NM_0010132 57:exon3:c.G217A:p. nonsynonymo G73R,BCAM:NM_00 NA us SNV 5581:exon3:c.G217A :p.G73R Index Negative MO_1109 19 46025766 46025766 C T Index Negative MO_1109 19 46308229 46308229 C T Index Negative MO_1109 19 48305477 48305477 G A Index Negative MO_1109 19 49261403 49261403 C T Index Negative MO_1109 19 50156254 50156254 C T Index Negative MO_1109 19 50823955 50823955 C T Index Negative MO_1109 19 50944195 50944195 C T Index Negative MO_1109 19 51920621 51920621 G A VASP:NM_003370:e nonsynonymo xon6:c.C647T:p.P21 us SNV 6L RSPH6A:NM_03078 nonsynonymo RSPH6A 5:exon3:c.G934A:p. us SNV E312K TPRX1:NM_198479: nonsynonymo TPRX1 exon2:c.C791T:p.P2 us SNV 64L FGF21:NM_019113: nonsynonymo FGF21 exon3:c.C556T:p.P1 us SNV 86S SCAF1:NM_021228: nonsynonymo SCAF1 exon7:c.C2608T:p.R us SNV 870C KCNC3:NM_004977: nonsynonymo KCNC3 exon3:c.G2065A:p.D us SNV 689N MYBPC2:NM_00453 nonsynonymo MYBPC2 3:exon8:c.C631T:p.P us SNV 211S VASP NA NA NA 86 NA NA NA 662 0 NA NA NA 156 NA NA NA 97 NA NA NA NA NA NA SIGLEC10:NM_0011 71156:exon2:c.C136 T:p.P46S,SIGLEC10 :NM_001171157:exo n2:c.C136T:p.P46S, SIGLEC10:NM_0011 71158:exon2:c.C136 SIGLEC1 nonsynonymo T:p.P46S,SIGLEC10 NA 0 us SNV :NM_001171159:exo n2:c.C136T:p.P46S, SIGLEC10:NM_0011 71161:exon2:c.C136 T:p.P46S,SIGLEC10 :NM_033130:exon2: c.C136T:p.P46S Index Negative MO_1109 19 52034582 52034582 C T SIGLEC6 nonsynonymo us SNV Index Negative MO_1109 19 52887533 52887533 C T ZNF880 nonsynonymo us SNV Index Negative MO_1109 19 52918815 52918815 G A ZNF528 nonsynonymo us SNV Index Negative MO_1109 19 52919433 52919433 G A ZNF528 nonsynonymo us SNV Index Negative MO_1109 19 53453521 53453521 G A ZNF816 nonsynonymo us SNV Index Negative MO_1109 19 53668817 53668817 C T ZNF665 nonsynonymo us SNV Index Negative MO_1109 19 54695582 54695582 C T TSEN34 nonsynonymo us SNV Index Negative MO_1109 19 55874320 55874320 G A Index Negative MO_1109 19 57065796 57065796 C T Index Negative MO_1109 19 57175479 57175479 G A Index Negative MO_1109 19 57286462 57286462 G A SIGLEC6:NM_00117 7547:exon2:c.G151A :p.E51K,SIGLEC6:N M_001177548:exon2 :c.G259A:p.E87K,SI GLEC6:NM_001177 549:exon2:c.G259A: p.E87K,SIGLEC6:N M_001245:exon2:c. G259A:p.E87K,SIGL EC6:NM_198845:ex on2:c.G259A:p.E87K ,SIGLEC6:NM_1988 46:exon2:c.G259A:p. E87K ZNF880:NM_001145 434:exon4:c.C700T: p.H234Y ZNF528:NM_032423 :exon7:c.G710A:p.G 237E ZNF528:NM_032423 :exon7:c.G1328A:p. G443D ZNF816:NM_001202 456:exon4:c.C1507T :p.H503Y,ZNF816:N M_001202457:exon4 :c.C1507T:p.H503Y, ZNF816:NM_001031 665:exon5:c.C1507T :p.H503Y ZNF665:NM_024733 :exon4:c.G926A:p.R 309Q TSEN34:NM_001077 446:exon2:c.C254T: p.S85F,TSEN34:NM _001282332:exon3:c .C254T:p.S85F,TSE N34:NM_001282333: exon3:c.C263T:p.S8 8F,TSEN34:NM_024 075:exon3:c.C254T: p.S85F 64 60 48.39% 0% 442 352 44.33% 1 0.64% 128 91 41.55% 0% 46 108 70.13% 632 1 0.16% 490 320 39.51% NA 201 0 0% 163 117 41.79% NA NA 110 0 0% 88 69 43.95% NA NA 398 1 0.25% 264 192 42.11% NA NA NA 317 2 0.63% 192 157 44.99% NA NA NA 87 0 0% 44 37 45.68% NA NA NA 172 0 0% 103 82 44.32% NA NA NA 144 0 0% 72 48 NA NA NA 45 0 0% 29 30 50.85% NA NA NA 22 0 0% 21 17 44.74% NA NA NA 333 0 0% 216 174 44.62% 336 1 0.30% 249 170 40.57% 118 0 0% 86 54 38.57% 396 0 0% 234 189 0 0% 114 ID=COSM1 001498,CO FAM71E2:NM_0011 SM100149 nonsynonymo FAM71E2 45402:exon1:c.C115 9;OCCUR 0.0001997 NA us SNV T:p.R39C ENCE=1(e ndometriu m) ZFP28:NM_020828: nonsynonymo ZFP28 exon8:c.C1642T:p.L NA NA NA us SNV 548F ZNF835:NM_001005 nonsynonymo ZNF835 850:exon2:c.C1088T NA NA NA us SNV :p.P363L ZIM2 ZIM2:NM_015363:ex on11:c.C1178T:p.S3 93F,ZIM2:NM_00114 nonsynonymo 6326:exon12:c.C117 NA us SNV 8T:p.S393F,ZIM2:N M_001146327:exon1 2:c.C1178T:p.S393F NA NA 1 1.15% 0 156 40% 40% 69 37.70% Index Index Negative MO_1109 Negative MO_1109 19 19 57327528 57328102 57327528 T 57328102 C G T PEG3 PEG3:NM_00114618 6:exon7:c.A2282C:p. K761T,PEG3:NM_00 1146184:exon9:c.A2 282C:p.K761T,PEG3 nonsynonymo :NM_001146185:exo NA us SNV n9:c.A1904C:p.K635 T,PEG3:NM_001146 187:exon9:c.A1910C :p.K637T,PEG3:NM_ 006210:exon10:c.A2 282C:p.K761T PEG3 PEG3:NM_00114618 6:exon7:c.G1708A:p. E570K,PEG3:NM_00 1146184:exon9:c.G1 708A:p.E570K,PEG3 nonsynonymo :NM_001146185:exo us SNV n9:c.G1330A:p.E444 K,PEG3:NM_001146 187:exon9:c.G1336A :p.E446K,PEG3:NM_ 006210:exon10:c.G1 708A:p.E570K Index Negative MO_1109 19 58596150 58596150 G A ZSCAN18 nonsynonymo us SNV Index Negative MO_1109 19 58596383 58596383 C T ZSCAN18 nonsynonymo us SNV Index Negative MO_1109 20 6022249 6022249 C T LRRN4 nonsynonymo us SNV Index Negative MO_1109 20 7866198 7866198 C T HAO1 nonsynonymo us SNV Index Negative MO_1109 20 9371243 9371243 A G PLCB4 nonsynonymo us SNV Index Negative MO_1109 20 13260314 13260314 G A ISM1 nonsynonymo us SNV Index Negative MO_1109 20 18496310 18496310 G A SEC23B nonsynonymo us SNV Index Negative MO_1109 20 21494208 21494208 C T NKX2-2 nonsynonymo us SNV Index Negative MO_1109 20 29976901 29976901 C T DEFB119 nonsynonymo us SNV Index Negative MO_1109 20 33338050 33338050 G A NCOA6 nonsynonymo us SNV Index Negative MO_1109 20 37535682 37535682 G A PPP1R16 nonsynonymo B us SNV Index Negative MO_1109 20 40727112 40727112 G C PTPRT nonsynonymo us SNV ZSCAN18:NM_0011 45544:exon6:c.C102 7T:p.P343S,ZSCAN 18:NM_001145542:e xon7:c.C1603T:p.P5 35S,ZSCAN18:NM_0 01145543:exon7:c.C 1435T:p.P479S,ZSC AN18:NM_023926:e xon7:c.C1435T:p.P4 79S ZSCAN18:NM_0011 45544:exon6:c.G794 A:p.G265E,ZSCAN1 8:NM_001145542:ex on7:c.G1370A:p.G45 7E,ZSCAN18:NM_00 1145543:exon7:c.G1 202A:p.G401E,ZSC AN18:NM_023926:e xon7:c.G1202A:p.G4 01E LRRN4:NM_152611: exon5:c.G1642A:p.D 548N HAO1:NM_017545:e xon7:c.G1012A:p.E3 38K PLCB4:NM_000933: exon14:c.A1304G:p. Q435R,PLCB4:NM_ 182797:exon15:c.A1 304G:p.Q435R,PLC B4:NM_001172646:e xon16:c.A1304G:p.Q 435R ISM1:NM_080826:ex on3:c.G412A:p.E138 K SEC23B:NM_00117 2745:exon4:c.G296A :p.G99E,SEC23B:N M_001172746:exon4 :c.G296A:p.G99E,S EC23B:NM_006363: exon4:c.G296A:p.G9 9E,SEC23B:NM_032 985:exon4:c.G296A: p.G99E,SEC23B:NM _032986:exon4:c.G2 96A:p.G99E NKX22:NM_002509:exon1 :c.G100A:p.E34K DEFB119:NM_00127 1209:exon2:c.G191A :p.G64E,DEFB119:N M_153323:exon2:c. G194A:p.G65E NCOA6:NM_001242 539:exon9:c.C1948T :p.L650F,NCOA6:NM _014071:exon9:c.C1 948T:p.L650F PPP1R16B:NM_001 172735:exon7:c.G75 7A:p.D253N,PPP1R 16B:NM_015568:exo n8:c.G883A:p.D295 N PTPRT:NM_007050: exon27:c.C3795G:p. F1265L,PTPRT:NM_ 133170:exon28:c.C3 852G:p.F1284L NA NA 179 0 0% 105 99 48.53% ID=COSM1 712948,CO SM171294 NA 9;OCCUR ENCE=1(s kin) NA 206 0 0% 138 85 38.12% NA NA NA 163 0 0% 99 85 46.20% NA NA NA 273 0 0% 175 119 40.48% NA NA NA 690 1 0.14% 465 347 42.73% NA NA NA 176 0 0% 145 90 38.30% NA NA NA 64 0 0% 53 42 44.21% NA NA NA 89 1 1.11% 68 58 46.03% NA NA NA 70 0 0% 51 51 NA NA NA 305 2 0.65% 254 NA NA NA 69 1 1.43% 49 NA NA NA 231 0 0% 190 122 39.10% ID=COSM1 026710;OC CURENCE NA =1(endome trium) NA 98 0 0% 69 56 44.80% NA rs376065 743 112 0 0% 98 61 38.36% NA 50% 170 40.09% 51 51% Index Negative MO_1109 20 41420079 41420079 C T PTPRT nonsynonymo us SNV Index Negative MO_1109 20 43132484 43132484 C A SERINC3 nonsynonymo us SNV Index Negative MO_1109 20 44439823 44439823 C T DNTTIP1 nonsynonymo us SNV Index Negative MO_1109 20 45000485 45000485 C T ELMO2 nonsynonymo us SNV NCOA3 Index Negative MO_1109 20 46264421 46264421 C T NA NA NA 85 0 0% 69 61 46.92% NA NA NA 65 0 0% 51 28 35.44% NA NA NA 342 0 0% 231 181 43.93% NA NA NA 303 0 0% 216 168 43.75% NCOA3:NM_001174 087:exon11:c.C1468 T:p.P490S,NCOA3:N M_001174088:exon1 nonsynonymo 1:c.C1498T:p.P500S NA us SNV ,NCOA3:NM_006534 :exon11:c.C1468T:p. P490S,NCOA3:NM_ 181659:exon11:c.C1 468T:p.P490S NA NA 138 0 0% 109 90 45.23% NA NA 250 0 0% 205 127 38.25% NA NA 275 1 0.36% 208 153 42.38% NFATC2 NFATC2:NM_00113 6021:exon3:c.C1118 T:p.S373F,NFATC2: NM_001258292:exo n3:c.C1118T:p.S373 F,NFATC2:NM_0012 58294:exon3:c.C521 T:p.S174F,NFATC2: NM_001258295:exo nonsynonymo n3:c.C521T:p.S174F NA us SNV ,NFATC2:NM_00125 8296:exon3:c.C521T :p.S174F,NFATC2:N M_001258297:exon3 :c.C521T:p.S174F,N FATC2:NM_012340: exon3:c.C1178T:p.S 393F,NFATC2:NM_1 73091:exon3:c.C117 8T:p.S393F NA NA 114 0 0% 96 45 31.91% ZBP1:NM_00116041 8:exon5:c.G487A:p. D163N,ZBP1:NM_00 nonsynonymo 1160417:exon6:c.G7 NA us SNV 09A:p.D237N,ZBP1: NM_030776:exon6:c .G712A:p.D238N NA NA 202 0 0% 181 136 42.90% NA NA NA 35 0 0% 23 25 52.08% NA NA NA 282 0 0% 247 175 41.47% NA NA NA 327 0 0% 249 201 44.67% NA NA NA 107 0 0% 70 NA NA NA 335 0 0% 268 250 48.26% NA NA NA 88 0 0% 60 43 41.75% NA NA NA 34 0 0% 27 15 35.71% NA NA NA 87 0 0% 74 45 37.82% Index Negative MO_1109 20 46365515 46365515 G A SULF2 Index Negative MO_1109 20 49621225 49621225 C T KCNG1 Index Negative MO_1109 20 50133477 50133477 G A PTPRT:NM_007050: exon3:c.G242A:p.G8 1E,PTPRT:NM_1331 70:exon3:c.G242A:p. G81E SERINC3:NM_00681 1:exon8:c.G1027T:p. V343F,SERINC3:NM _198941:exon8:c.G1 027T:p.V343F DNTTIP1:NM_05295 1:exon13:c.C979T:p. P327S ELMO2:NM_182764: exon16:c.G1540A:p. E514K,ELMO2:NM_ 133171:exon17:c.G1 540A:p.E514K Index Negative MO_1109 20 56186945 56186945 C T ZBP1 Index Negative MO_1109 20 58452547 58452547 G A SYCP2 Index Negative MO_1109 20 61958159 61958159 G A Index Negative MO_1109 20 62200225 62200225 C T Index Negative MO_1109 20 62322221 62322221 C T Index Negative MO_1109 20 62378524 62378524 G A Index Negative MO_1109 21 28214300 28214300 C T Index Negative MO_1109 21 31045377 31045377 C T Index Negative MO_1109 21 34975841 34975841 G A SULF2:NM_0011618 41:exon3:c.C347T:p. P116L,SULF2:NM_0 nonsynonymo 18837:exon3:c.C347 NA us SNV T:p.P116L,SULF2:N M_198596:exon3:c. C347T:p.P116L KCNG1:NM_002237: nonsynonymo exon3:c.G893A:p.R2 NA us SNV 98Q SYCP2:NM_014258: nonsynonymo exon32:c.C3043T:p. us SNV P1015S COL20A1:NM_0208 nonsynonymo COL20A1 82:exon31:c.G3512A us SNV :p.G1171E HELZ2:NM_0010373 nonsynonymo HELZ2 35:exon6:c.G1216A: us SNV p.D406N RTEL1:NM_0012830 10:exon26:c.C1808T :p.P603L,RTEL1:NM _001283009:exon27: nonsynonymo c.C2477T:p.P826L,R RTEL1 us SNV TEL1:NM_016434:ex on27:c.C2477T:p.P8 26L,RTEL1:NM_032 957:exon27:c.C2549 T:p.P850L ZBTB46:NM_025224 nonsynonymo ZBTB46 :exon5:c.C1529T:p.A us SNV 510V ADAMTS1:NM_0069 ADAMTS nonsynonymo 88:exon3:c.G1087A: 1 us SNV p.G363R GRIK1:NM_000830: exon4:c.G652A:p.E2 nonsynonymo GRIK1 18K,GRIK1:NM_175 us SNV 611:exon4:c.G652A: p.E218K CRYZL1:NM_14585 nonsynonymo CRYZL1 8:exon7:c.C334T:p.H us SNV 112Y 70 50% Index Negative MO_1109 21 38528972 38528972 G A TTC3 nonsynonymo us SNV Index Negative MO_1109 21 40778020 40778020 C T LCA5L nonsynonymo us SNV Index Negative MO_1109 21 46888579 46888579 A T COL18A1 nonsynonymo us SNV Index Negative MO_1109 22 20230273 20230273 C T RTN4R nonsynonymo us SNV Index Negative MO_1109 22 22143090 22143090 G A MAPK1 nonsynonymo us SNV Index Negative MO_1109 22 31328398 31328398 G A MORC2 nonsynonymo us SNV Index Negative MO_1109 22 31816358 31816358 C T DRG1 nonsynonymo us SNV Index Negative MO_1109 22 37407320 37407320 C T TST nonsynonymo us SNV Index Negative MO_1109 22 37962367 37962367 C T CDC42EP nonsynonymo 1 us SNV Index Negative MO_1109 22 38026006 38026006 C T GGA1 nonsynonymo us SNV Index Negative MO_1109 22 38322033 38322033 C T MICALL1 nonsynonymo us SNV Index Negative MO_1109 22 38373975 38373975 C T SOX10 nonsynonymo us SNV Index Negative MO_1109 22 42126549 42126549 C T MEI1 nonsynonymo us SNV Index Negative MO_1109 22 50636410 50636410 C T TRABD nonsynonymo us SNV Index Negative MO_1109 11133038 11133038 G A HCCS nonsynonymo us SNV CA5B Index Negative MO_1109 X X 15800620 15800620 C T TTC3:NM_00100189 4:exon28:c.G2756A: p.G919E,TTC3:NM_ 003316:exon28:c.G2 756A:p.G919E LCA5L:NM_152505: exon10:c.G1801A:p. E601K COL18A1:NM_0305 82:exon2:c.A1070T: p.Y357F,COL18A1:N M_130445:exon3:c.A 530T:p.Y177F RTN4R:NM_023004: exon2:c.G383A:p.G1 28D MAPK1:NM_002745: exon5:c.C617T:p.T2 06I,MAPK1:NM_138 957:exon5:c.C617T: p.T206I MORC2:NM_014941 :exon25:c.C2603T:p. S868F DRG1:NM_004147:e xon5:c.C529T:p.P17 7S TST:NM_001270483 :exon3:c.G642A:p.M 214I,TST:NM_00331 2:exon3:c.G642A:p. M214I CDC42EP1:NM_152 243:exon2:c.C11T:p. P4L GGA1:NM_0010015 60:exon11:c.C899T: p.S300L,GGA1:NM_ 001172687:exon13:c .C1160T:p.S387L,G GA1:NM_013365:ex on13:c.C1160T:p.S3 87L,GGA1:NM_0011 72688:exon14:c.C94 1T:p.S314L MICALL1:NM_03338 6:exon8:c.C1448T:p. P483L SOX10:NM_006941: exon3:c.G596A:p.G1 99E MEI1:NM_152513:ex on9:c.C1004T:p.S33 5F TRABD:NM_025204: exon8:c.C830T:p.P2 77L HCCS:NM_0011226 08:exon3:c.G184A:p. E62K,HCCS:NM_00 1171991:exon3:c.G1 84A:p.E62K,HCCS:N M_005333:exon3:c. G184A:p.E62K NA NA NA 38 0 0% 22 21 48.84% NA NA NA 220 0 0% 147 127 46.35% NA NA NA 438 0 0% 312 283 47.56% NA NA NA 322 0 0% 246 204 45.33% NA NA NA 53 0 0% 46 42 47.73% NA NA NA 253 0 0% 204 171 45.60% NA NA NA 138 0 0% 96 67 41.10% NA NA NA 264 1 0.38% 359 143 28.49% NA NA NA 143 0 0% 248 124 33.33% NA NA NA 191 1 0.52% 150 256 63.05% NA NA NA 171 0 0% 284 116 NA NA NA 202 0 0% 323 145 30.98% NA NA NA 111 0 0% 91 173 65.53% NA NA NA 767 1 0.13% 619 999 61.74% NA NA NA 61 0 0% 9 73 89.02% ID=COSM1 CA5B:NM_007220:e 210662;OC nonsynonymo xon8:c.C787T:p.R26 CURENCE NA us SNV 3W =2(large_in testine) NA 33 0 0% 5 45 62 0 0% 3 71 95.95% Index Negative MO_1109 X 16870912 16870912 G A RBBP7 nonsynonymo us SNV Index Negative MO_1109 X 19587271 19587271 G A SH3KBP1 nonsynonymo us SNV Index Negative MO_1109 X 29973405 29973405 A G IL1RAPL1 nonsynonymo us SNV Index Negative MO_1109 X 35820884 35820884 G A MAGEB1 nonsynonymo 6 us SNV Index Negative MO_1109 X 40999972 40999972 C T USP9X nonsynonymo us SNV Index Negative MO_1109 X 47269714 47269714 C G ZNF157 nonsynonymo us SNV RBBP7:NM_001198 719:exon7:c.C977T: p.P326L,RBBP7:NM _002893:exon7:c.C8 45T:p.P282L SH3KBP1:NM_0011 84960:exon8:c.C620 T:p.S207L,SH3KBP1 :NM_001024666:exo n12:c.C1223T:p.S40 8L,SH3KBP1:NM_03 1892:exon13:c.C133 4T:p.S445L IL1RAPL1:NM_0142 71:exon11:c.A1559G :p.N520S MAGEB16:NM_0010 99921:exon2:c.G571 A:p.D191N USP9X:NM_001039 590:exon7:c.C718T: p.R240C,USP9X:NM _001039591:exon7:c .C718T:p.R240C ZNF157:NM_003446 :exon2:c.C112G:p.R 38G 29% 90% NA NA NA NA NA rs199599 962 118 0 0% 4 111 96.52% NA NA NA 109 1 0.91% 12 129 91.49% NA NA NA 139 0 0% 13 143 91.67% NA NA NA 19 0 0% 1 25 96.15% NA NA NA 119 0 0% 14 109 88.62% Index Negative MO_1109 X 48924776 48924776 G A CCDC120:NM_0011 63321:exon10:c.G11 26A:p.A376T,CCDC 120:NM_001163322: exon10:c.G985A:p.A 329T,CCDC120:NM_ 001163323:exon10:c nonsynonymo .G985A:p.A329T,CC CCDC120 NA us SNV DC120:NM_0012718 35:exon10:c.G1021A :p.A341T,CCDC120: NM_001271836:exo n10:c.G1021A:p.A34 1T,CCDC120:NM_03 3626:exon10:c.G102 1A:p.A341T Index Negative MO_1109 X 54177724 54177724 G A FAM120C FAM120C:NM_0178 nonsynonymo 48:exon4:c.C1112T: NA us SNV p.P371L NA NA 84 0 0% 12 76 86.36% TRO:NM_001271183 :exon9:c.C425T:p.S1 42F,TRO:NM_00127 1184:exon10:c.C641 T:p.S214F,TRO:NM_ 177557:exon10:c.C6 nonsynonymo 41T:p.S214F,TRO:N NA us SNV M_001039705:exon1 1:c.C1832T:p.S611F ,TRO:NM_016157:ex on11:c.C1832T:p.S6 11F,TRO:NM_17755 6:exon11:c.C1832T: p.S611F NA NA 54 0 0% 7 73 91.25% NA NA NA 71 0 0% 9 69 88.46% NA NA NA 74 0 0% 7 58 89.23% NA NA NA 34 0 0% 3 25 89.29% NA NA NA 391 1 0.26% 38 336 89.84% NA NA NA 64 0 0% 4 66 94.29% NA NA NA 75 0 0% 7 69 90.79% NA NA NA 146 0 0% 21 163 88.59% NA NA NA 64 0 0% 8 73 90.12% NA NA NA 40 0 0% 9 54 85.71% NA NA NA 321 0 0% 37 362 90.73% NA NA NA 132 0 0% 11 138 92.62% NA NA NA 258 0 0% 233 163 41.16% NA NA NA 135 0 0% 21 165 88.71% NA NA NA 312 0 0% 255 202 44.20% NA NA NA 388 2 0.51% 316 480 60.30% NA NA NA 205 0 0% 127 75 37.13% NA NA NA 276 0 0% 164 105 39.03% Index Negative MO_1109 X 54954168 54954168 C T TRO Index Negative MO_1109 X 71426042 71426042 C T ERCC6L Index Negative MO_1109 X 73524114 73524114 G A ZCCHC13 Index Negative MO_1109 X 77245368 77245368 G A ATP7A Index Negative MO_1109 X 114426651 114426651 G C RBMXL3 Index Negative MO_1109 X 118221312 118221312 G A KIAA1210 Index Negative MO_1109 X 122598801 122598801 G A GRIA3 Index Negative MO_1109 X 124456394 124456394 G A LOC1001 29520 Index Negative MO_1109 X 131214267 131214267 T A FRMD7 Index Negative MO_1109 X 132162078 132162078 T A USP26 Index Negative MO_1109 X 152806879 152806879 C T ATP2B3 Index Negative MO_1109 X 152981012 152981012 G A BCAP31 Index Negative MO_1109 Index Negative MO_1109 Index Negative MO_1109 Index Negative MO_1109 1 44595658 Index Negative MO_1109 11 Index Negative MO_1109 6 9 35106570 35106570 G A FAM214B 37027114 37027114 C T FAM47C 14 105477816 105477816 G A CDCA4 44595658 C T KLF17 55135837 55135837 G A OR4A15 27783010 27783010 G A HIST1H2 BM X ERCC6L:NM_01766 nonsynonymo 9:exon2:c.G2575A:p. us SNV E859K ZCCHC13:NM_2033 nonsynonymo 03:exon1:c.G13A:p. us SNV D5N ATP7A:NM_000052: exon4:c.G1250A:p.G nonsynonymo 417E,ATP7A:NM_00 us SNV 1282224:exon4:c.G1 250A:p.G417E RBMXL3:NM_00114 nonsynonymo 5346:exon1:c.G2647 us SNV C:p.G883R KIAA1210:NM_0207 nonsynonymo 21:exon11:c.C3881T us SNV :p.P1294L GRIA3:NM_000828: exon13:c.G2162A:p. nonsynonymo G721E,GRIA3:NM_0 us SNV 07325:exon13:c.G21 62A:p.G721E LOC100129520:NM_ nonsynonymo 001195272:exon1:c. us SNV G2426A:p.G809E FRMD7:NM_194277: nonsynonymo exon10:c.A933T:p.E us SNV 311D USP26:NM_031907: nonsynonymo exon1:c.A171T:p.Q5 us SNV 7H ATP2B3:NM_001001 344:exon2:c.C271T: nonsynonymo p.P91S,ATP2B3:NM us SNV _021949:exon2:c.C2 71T:p.P91S BCAP31:NM_00113 9441:exon4:c.C326T :p.S109F,BCAP31:N M_001139457:exon4 nonsynonymo :c.C527T:p.S176F,B us SNV CAP31:NM_0012564 47:exon4:c.C326T:p. S109F,BCAP31:NM_ 005745:exon4:c.C32 6T:p.S109F FAM214B:NM_0251 nonsynonymo 82:exon5:c.C1024T: us SNV p.P342S FAM47C:NM_00101 nonsynonymo 3736:exon1:c.C631T us SNV :p.R211C CDCA4:NM_017955: exon2:c.C451T:p.P1 nonsynonymo 51S,CDCA4:NM_145 us SNV 701:exon2:c.C451T: p.P151S KLF17:NM_173484:e nonsynonymo xon2:c.C715T:p.L23 us SNV 9F OR4A15:NM_00100 nonsynonymo 5275:exon1:c.G478A us SNV :p.E160K HIST1H2BM:NM_00 nonsynonymo 3521:exon1:c.G189A us SNV :p.M63I NA NA 318 0 0% 27 350 92.84% Index Negative MO_1109 Index Negative MO_1109 Index Negative MO_1109 Index Negative MO_1109 19 53901278 53901278 C T Index Negative MO_1109 19 53911853 53911853 C T Index Negative MO_1109 1 16356570 16356570 G A Index Negative MO_1109 20 32379268 32379268 C T Index Negative MO_1109 1 207785165 207785165 G C Index Negative MO_1109 10 81904028 81904028 T G Index Negative MO_1109 16 55886853 55886853 C T Index Negative MO_1109 2 233273031 233273031 G A Index Negative MO_1109 9 84606488 C T Index Negative MO_1109 7 141765191 141765191 C T Index Negative MO_1109 22 29885499 29885499 G A Index Negative MO_1109 22 29886123 29886123 G A Index 17 36991477 36991477 C T X 134988279 134988279 A T X 134989114 134989114 G A 84606488 5 140208808 140208808 G Negative MO_1109 A C17orf98:NM_00108 nonsynonymo 0465:exon3:c.G430A us SNV :p.V144I SAGE1:NM_018666: nonsynonymo SAGE1 exon6:c.A551T:p.N1 us SNV 84I SAGE1:NM_018666: nonsynonymo SAGE1 exon8:c.G766A:p.E2 us SNV 56K ZNF765:NM_001040 nonsynonymo ZNF765 185:exon2:c.C10T:p. us SNV P4S ZNF765:NM_001040 nonsynonymo ZNF765 185:exon4:c.C1045T us SNV :p.H349Y CLCNKA:NM_00125 7139:exon13:c.G127 9A:p.G427R,CLCNK nonsynonymo A:NM_001042704:ex CLCNKA us SNV on14:c.G1408A:p.G4 70R,CLCNKA:NM_0 04070:exon14:c.G14 08A:p.G470R ZNF341:NM_001282 935:exon14:c.C2240 T:p.A747V,ZNF341: nonsynonymo NM_001282933:exo ZNF341 us SNV n15:c.C2510T:p.A83 7V,ZNF341:NM_032 819:exon15:c.C2489 T:p.A830V CR1:NM_000573:ex on30:c.G5089C:p.G1 nonsynonymo CR1 697R,CR1:NM_0006 us SNV 51:exon38:c.G6439C :p.G2147R PLAC9:NM_0010129 nonsynonymo PLAC9 73:exon3:c.T212G:p. us SNV L71R CES5A:NM_001143 685:exon10:c.G1213 A:p.D405N,CES5A:N nonsynonymo M_145024:exon10:c. CES5A us SNV G1213A:p.D405N,C ES5A:NM_00119015 8:exon11:c.G1300A: p.D434N ALPPL2:NM_031313 nonsynonymo ALPPL2 :exon6:c.G703A:p.E us SNV 235K SPATA31D1:NM_00 SPATA31 nonsynonymo 1001670:exon4:c.C1 D1 us SNV 103T:p.S368F MGAM:NM_004668: nonsynonymo MGAM exon38:c.C4541T:p. us SNV P1514L NEFH:NM_021076:e nonsynonymo NEFH xon4:c.G1870A:p.E6 us SNV 24K NEFH:NM_021076:e nonsynonymo NEFH xon4:c.G2494A:p.E8 us SNV 32K PCDHA6:NM_01890 9:exon1:c.G1132A:p. D378N,PCDHA6:NM nonsynonymo _031848:exon1:c.G1 PCDHA6 us SNV 132A:p.D378N,PCD HA6:NM_031849:ex on1:c.G1132A:p.D37 8N C17orf98 NA 0% 291 212 42.15% NA 121 0 0% 8 111 93.28% NA NA NA 91 0 0% 11 110 90.91% NA NA NA 73 0 0% 39 28 41.79% NA NA NA 32 0 0% 17 17 NA NA NA 161 0 0% 284 118 29.35% NA NA NA 237 0 0% 221 157 41.53% NA NA NA 111 0 0% 81 53 39.55% NA NA NA 266 1 0.37% 188 133 41.43% NA NA NA 110 0 0% 87 61 41.22% NA NA NA 149 0 0% 162 52 24.30% NA NA NA 31 0 0% 21 16 43.24% NA NA NA 155 0 0% 95 64 40.25% NA NA NA 116 0 0% 95 71 42.77% NA NA NA 103 0 0% 115 90 43.90% ID=COSM1 062036,CO SM106203 7;OCCUR NA ENCE=1(e ndometriu m) NA 314 0 0% 270 182 40.27% NA NA 823 0 0% 1156 NA NA NA 124 0 0% 114 91 44.39% NA NA NA 25 0 0% 1 17 94.44% NA NA NA 50 0 0% 9 59 86.76% NA NA NA 131 0 0% 83 62 42.76% 0.0001997 NA 145 0 0% 89 90 50.28% Negative MO_1109 18 44555139 44555139 G A Index Negative MO_1109 3 44692635 44692635 G A ZNF35 Index Negative MO_1109 X 52896107 52896107 G A XAGE3 Index Negative MO_1109 X 47496419 47496419 G A ELK1 Index Negative MO_1109 1 152282809 152282809 T G FLG Index Negative MO_1109 6 150342313 150342313 G A RAET1L Index Negative MO_1109 2 178483393 178483393 C T TTC30A Index Negative MO_1109 9 A NOL8 95076727 G 0 NA Index 95076727 362 NA TCEB3CL:NM_0011 00817:exon1:c.C107 TCEB3C, nonsynonymo 5T:p.P359S,TCEB3 NA TCEB3CL us SNV C:NM_145653:exon1 :c.C1075T:p.P359S ZNF35:NM_003420: nonsynonymo exon2:c.G76A:p.E26 us SNV K XAGE3:NM_130776: exon2:c.C58T:p.P20 nonsynonymo S,XAGE3:NM_13317 us SNV 9:exon2:c.C58T:p.P2 0S ELK1:NM_005229:ex on5:c.C1181T:p.S39 nonsynonymo 4F,ELK1:NM_00111 us SNV 4123:exon6:c.C1181 T:p.S394F FLG:NM_002016:ex nonsynonymo on3:c.A4553C:p.H15 us SNV 18P RAET1L:NM_130900 nonsynonymo :exon3:c.C359T:p.T1 us SNV 20I TTC30A:NM_152275 nonsynonymo :exon1:c.G37A:p.E1 us SNV 3K NOL8:NM_017948:e xon7:c.C2180T:p.S7 nonsynonymo 27L,NOL8:NM_0012 us SNV 56394:exon8:c.C197 6T:p.S659L 0.0001997 NA NA 49 50% 4.07% NA NA NA 302 0 0% 227 168 42.53% NA NA NA 202 0 0% 176 104 37.14% Index Negative MO_1109 Index Negative MO_1109 19 11943643 11943643 C T Index Negative MO_1109 21 46047909 46047909 C T 5 140596018 140596018 C T Index Negative MO_1109 22 29759014 29759014 G A Index Negative MO_1109 1 17265506 17265506 C T Index Negative MO_1109 19 55286836 55286836 G A Index Negative MO_1109 19 44891169 44891169 G A Index Negative MO_1109 5 140573450 140573450 C T Index Negative MO_1109 16 3065619 3065619 G A PCDHB13:NM_0189 nonsynonymo 33:exon1:c.C2323T: us SNV p.P775S ZNF440:NM_152357 nonsynonymo ZNF440 :exon4:c.C1652T:p.P us SNV 551L KRTAP10KRTAP10- nonsynonymo 9:NM_198690:exon1 9 us SNV :c.C821T:p.P274L AP1B1:NM_001127: exon3:c.C119T:p.S4 0L,AP1B1:NM_0011 nonsynonymo AP1B1 66019:exon3:c.C119 us SNV T:p.S40L,AP1B1:NM _145730:exon3:c.C1 19T:p.S40L CROCC:NM_014675 nonsynonymo CROCC :exon12:c.C1477T:p. us SNV P493S KIR2DL1:NM_01421 nonsynonymo KIR2DL1 8:exon4:c.G590A:p. us SNV R197K ZNF285:NM_001291 491:exon3:c.C773T: p.S258F,ZNF285:NM _001291489:exon4:c .C1238T:p.S413F,Z NF285:NM_152354: nonsynonymo ZNF285 exon4:c.C1238T:p.S us SNV 413F,ZNF285:NM_0 01291488:exon5:c.C 1259T:p.S420F,ZNF 285:NM_001291490: exon5:c.C773T:p.S2 58F PCDHB10:NM_0189 nonsynonymo PCDHB10 30:exon1:c.C1325T: us SNV p.S442F CLDN6:NM_021195: nonsynonymo CLDN6 exon2:c.C404T:p.P1 us SNV 35L PCDHB13 Index Negative MO_1109 22 17072714 17072714 G A CCT8L2 Index Negative MO_1109 22 17072809 17072809 C T CCT8L2 Index Negative MO_1109 19 41387590 41387590 C T Index Negative MO_1109 16 15098063 15098063 C A Index Negative MO_1109 1 152186955 152186955 C T Index Negative MO_1109 151870202 151870202 C T Index Negative MO_1109 5 175395102 175395102 C T Index Negative MO_1109 16 70884548 70884548 C T Index Negative MO_1109 16 70935007 70935007 G A Index Negative MO_1109 16 71186660 71186660 C T Index Negative MO_1109 14 19553778 19553778 G A X NA NA NA 155 0 0% 144 87 37.66% NA NA NA 225 0 0% 176 135 43.41% rs188510 491 650 1 0.15% 520 330 38.82% NA 0.0003994 ID=COSM1 033166;OC CURENCE NA =1(endome trium) NA 12 0 0% 5 13 72.22% NA NA NA 165 0 0% 238 64 21.19% NA NA NA 238 0 0% 231 25 NA NA NA 38 0 0% 28 26 48.15% NA NA NA 164 0 0% 114 100 46.73% NA NA NA 88 0 0% 80 56 41.18% ID=COSM3 CCT8L2:NM_014406 nonsynonymo 85054;OC :exon1:c.C727T:p.L2 NA us SNV CURENCE 43F =1(lung) NA 116 0 0% 73 65 47.10% CCT8L2:NM_014406 nonsynonymo :exon1:c.G632A:p.G us SNV 211E CYP2A7:NM_00076 nonsynonymo CYP2A7 4:exon2:c.G247A:p. us SNV G83R PDXDC1:NM_00128 5444:exon4:c.C181A :p.Q61K,PDXDC1:N M_001285445:exon4 :c.C178A:p.Q60K,PD XDC1:NM_00128544 7:exon5:c.C217A:p. nonsynonymo PDXDC1 Q73K,PDXDC1:NM_ us SNV 001285449:exon5:c. C262A:p.Q88K,PDX DC1:NM_001285450 :exon5:c.C262A:p.Q 88K,PDXDC1:NM_0 15027:exon5:c.C262 A:p.Q88K HRNR:NM_0010099 nonsynonymo HRNR 31:exon3:c.G7150A: us SNV p.G2384R MAGEA6:NM_00536 3:exon3:c.C892T:p.R nonsynonymo MAGEA6 298C,MAGEA6:NM_ us SNV 175868:exon3:c.C89 2T:p.R298C THOC3:NM_032361: nonsynonymo THOC3 exon1:c.G110A:p.G3 us SNV 7E HYDIN:NM_0012709 nonsynonymo HYDIN 74:exon74:c.G12454 us SNV A:p.D4152N HYDIN:NM_0012709 nonsynonymo HYDIN 74:exon53:c.C8948T us SNV :p.S2983F HYDIN:NM_0011985 42:exon7:c.G824A:p. G275E,HYDIN:NM_0 01198543:exon7:c.G nonsynonymo 794A:p.G265E,HYDI HYDIN us SNV N:NM_001270974:ex on7:c.G743A:p.G248 E,HYDIN:NM_01755 8:exon7:c.G743A:p. G248E POTEG:NM_001005 nonsynonymo POTEG 356:exon1:c.G362A: us SNV p.G121E 9.77% NA NA NA 28 0 0% 23 15 39.47% NA NA NA 51 0 0% 51 19 27.14% NA NA NA 141 0 0% 180 47 20.70% NA NA NA 337 0 0% 386 61 13.65% NA NA NA 26 0 0% 3 38 92.68% NA NA NA 395 0 0% 478 126 20.86% NA NA NA 96 0 0% 95 35 26.92% NA NA NA 179 0 0% 192 50 20.66% NA NA NA 187 0 0% 213 56 20.82% NA NA NA 33 0 0% 34 10 22.73% Index Negative MO_1109 Index Negative MO_1109 16 28734554 28734554 C A 9 136444194 136444194 C T EIF3C:NM_0012675 74:exon8:c.C846A:p. H282Q,EIF3C:NM_0 01037808:exon9:c.C 846A:p.H282Q,EIF3 CL:NM_001099661:e xon9:c.C846A:p.H28 EIF3C,EIF nonsynonymo 2Q,EIF3C:NM_0011 NA 3CL us SNV 99142:exon9:c.C846 A:p.H282Q,EIF3C:N M_001286478:exon9 :c.C816A:p.H272Q,E IF3C:NM_003752:ex on9:c.C846A:p.H282 Q FAM163B:NM_0010 nonsynonymo FAM163B 80515:exon2:c.G451 NA us SNV A:p.A151T NA NA 381 0 0% 414 99 19.30% NA NA 253 0 0% 226 174 43.50% NA NA 152 0 0% 106 100 48.54% NA NA NA 30 0 0% 4 18 81.82% NA NA NA 58 0 0% 11 77 87.50% NA NA NA 147 0 0% 116 93 44.50% NA NA NA 159 0 0% 143 112 43.92% NA NA NA 365 0 0% 219 164 42.82% NA NA NA 61 0 0% 50 47 48.45% NA NA NA 68 0 0% 62 42 40.38% NA NA NA 91 0 0% 47 36 43.37% NA NA NA 185 0 0% 136 90 39.82% NA NA NA 20 0 0% 25 10 28.57% NA NA NA 121 1 0.82% 96 74 43.53% NA NA NA 54 0 0% 55 24 30.38% NA NA NA 230 2 0.86% 512 46 ID=COSM1 329114,CO SM132911 NA 3;OCCUR ENCE=1(o vary) NA 179 0 0% 133 83 38.43% NA NA NA 25 0 0% 24 13 35.14% NA NA NA 106 0 0% 72 62 46.27% NA NA NA 268 1 0.37% 184 121 39.67% NA NA NA 54 0 0% 53 38 41.76% NA NA NA 127 0 0% 98 51 34.23% NA NA NA 105 0 0% 83 133 61.57% Index Negative MO_1109 12 133587100 133587100 G A ZNF26 ZNF26:NM_0012562 80:exon3:c.G539A:p. S180N,ZNF26:NM_0 nonsynonymo 19591:exon4:c.G635 NA us SNV A:p.S212N,ZNF26:N M_001256279:exon5 :c.G734A:p.S245N Index Negative MO_1109 13 splicing Index Negative MO_1109 Index 48941629 48941629 G A RB1 51643277 51643277 G T MAGED1 splicing Negative MO_1109 7 154664333 154664333 G A DPP6 splicing Index Negative MO_1109 2 70015274 G A ANXA4 splicing Index Negative MO_1109 7 122033370 122033370 C T CADPS2 splicing Index Negative MO_1109 9 86912214 86912214 C T SLC28A3 splicing Index Negative MO_1109 1 63008278 63008278 C T DOCK7 splicing Index Negative MO_1109 2 136678022 136678022 C T DARS splicing Index Negative MO_1109 3 186502220 186502220 G A EIF4A2 splicing Index Negative MO_1109 19 23556640 23556640 C T ZNF91 splicing Index Negative MO_1109 19 14270212 14270212 C T LPHN1 splicing Index Negative MO_1109 14 31581750 31581750 C T HECTD1 splicing Index Negative MO_1109 1 53686240 53686240 A C C1orf123 splicing X 70015274 Index Negative MO_1109 6 30297548 30297548 G T TRIM39,T RIM39splicing RPP21 Index Negative MO_1109 20 43374835 43374835 G A KCNK15 splicing Index Negative MO_1109 12 14660053 14660053 C T PLBD1 splicing Index Negative MO_1109 20 43752907 43752907 C T WFDC12 splicing Index Negative MO_1109 1 216246312 216246312 C T USH2A splicing Index Negative MO_1109 12 124293343 124293343 G C DNAH10 splicing Index Negative MO_1109 A USP48 stopgain 1 22030046 22030046 G NM_000321:exon10: c.940-1G>A NM_001005332:exo n11:c.18451G>T,NM_006986:e xon11:c.18451G>T,NM_00100533 3:exon12:c.20131G>T NM_001039350:exo n19:c.16221G>A,NM_130797:e xon19:c.18141G>A,NM_001936:e xon19:c.16281G>A,NM_00129025 2:exon17:c.14931G>A NM_001153:exon3:c .97+1G>A NM_001167940:exo n23:c.29011G>A,NM_017954:e xon23:c.2889-1G>A NM_001199633:exo n9:c.7841G>A,NM_022127:e xon10:c.784-1G>A NM_001272001:exo n25:c.2952+1G>A,N M_033407:exon25:c. 2952+1G>A,NM_001 272000:exon25:c.29 52+1G>A,NM_00127 1999:exon26:c.3045 +1G>A NM_001349:exon11: c.959+1G>A,NM_00 1293312:exon10:c.6 59+1G>A NM_001967:exon2:c .30-1G>A NM_003430:exon4:c .158-1G>A NM_014921:exon11: c.2023+1G>A,NM_0 01008701:exon12:c. 2038+1G>A NM_015382:exon36: c.6151-1G>A NM_017887:exon2:c .6+2T>G NM_021253:exon3:c .453+1G>T,NM_172 016:exon3:c.453+1G >T;NM_001199119:e xon1:c.453+1G>T NM_022358:exon1:c .283+1G>A NM_024829:exon10: c.1187-1G>A NM_080869:exon3:c .80-1G>A NM_206933:exon30: c.5777-1G>A NM_207437:exon18: c.2634-1G>C USP48:NM_032236: exon21:c.C2581T:p. Q861X 8.24% Index Negative MO_1109 1 36505935 36505935 C T AGO3 stopgain Index Negative MO_1109 1 116228085 116228085 C A VANGL1 Index Negative MO_1109 1 145015988 145015988 G A PDE4DIP stopgain Index Negative MO_1109 1 160267196 160267196 G A COPA stopgain Index Negative MO_1109 1 235301245 235301245 G A RBM34 stopgain Index Negative MO_1109 2 65488444 65488444 C T ACTR2 stopgain Index Negative MO_1109 2 96795642 96795642 C T ASTL stopgain Index Negative MO_1109 2 128384801 128384801 G A MYO7B stopgain Index Negative MO_1109 2 192252023 192252023 G A MYO1B stopgain Index Negative MO_1109 2 211421544 211421544 G A CPS1 stopgain Index Negative MO_1109 3 23574136 23574136 T A UBE2E2 stopgain Index Negative MO_1109 3 38755505 38755505 G A SCN10A stopgain Index Negative MO_1109 3 46008503 46008503 G A FYCO1 stopgain Index Negative MO_1109 3 121413324 121413324 G A GOLGB1 stopgain Index Negative MO_1109 3 140410018 140410018 G A TRIM42 stopgain Index Negative MO_1109 3 142178145 142178145 G A ATR stopgain Index Negative MO_1109 3 148459478 148459478 G A AGTR1 stopgain Index Negative MO_1109 4 T WDFY3 stopgain 85752667 85752667 C stopgain AGO3:NM_177422:e xon14:c.C1363T:p.R 455X,AGO3:NM_024 852:exon16:c.C2065 T:p.R689X VANGL1:NM_00117 2411:exon7:c.C1245 A:p.Y415X,VANGL1: NM_001172412:exo n7:c.C1251A:p.Y417 X,VANGL1:NM_1389 59:exon7:c.C1251A: p.Y417X PDE4DIP:NM_00119 8832:exon3:c.C100T :p.R34X,PDE4DIP:N M_022359:exon3:c. C313T:p.R105X COPA:NM_0010983 98:exon21:c.C2227T :p.Q743X,COPA:NM _004371:exon21:c.C 2200T:p.Q734X RBM34:NM_015014: exon8:c.C796T:p.Q2 66X ACTR2:NM_005722: exon7:c.C799T:p.Q2 67X,ACTR2:NM_001 005386:exon8:c.C81 4T:p.Q272X ASTL:NM_00100203 6:exon8:c.G795A:p. W265X MYO7B:NM_001080 527:exon32:c.G4298 A:p.W1433X MYO1B:NM_001130 158:exon17:c.G1628 A:p.W543X,MYO1B: NM_001161819:exo n17:c.G1628A:p.W5 43X,MYO1B:NM_01 2223:exon17:c.G162 8A:p.W543X CPS1:NM_001875:e xon1:c.G87A:p.W29 X,CPS1:NM_001122 633:exon2:c.G105A: p.W35X UBE2E2:NM_15265 3:exon5:c.T452A:p.L 151X SCN10A:NM_00129 3307:exon20:c.C345 4T:p.R1152X,SCN10 A:NM_001293306:ex on21:c.C3745T:p.R1 249X,SCN10A:NM_0 06514:exon21:c.C37 48T:p.R1250X FYCO1:NM_024513: exon8:c.C2323T:p.Q 775X GOLGB1:NM_00125 6488:exon12:c.C580 6T:p.Q1936X,GOLG B1:NM_001256486:e xon13:c.C6046T:p.Q 2016X,GOLGB1:NM _001256487:exon13: c.C5929T:p.Q1977X, GOLGB1:NM_00448 7:exon13:c.C6031T: p.Q2011X TRIM42:NM_152616 :exon4:c.G2069A:p. W690X ATR:NM_001184:ex on43:c.C7273T:p.R2 425X AGTR1:NM_009585: exon2:c.G656A:p.W 219X,AGTR1:NM_00 0685:exon3:c.G656A :p.W219X,AGTR1:N M_004835:exon3:c. G761A:p.W254X,AG TR1:NM_032049:exo n3:c.G743A:p.W248 X,AGTR1:NM_03185 0:exon4:c.G761A:p. W254X WDFY3:NM_014991 :exon8:c.G668A:p.W 223X ID=COSM9 08816;OC CURENCE =3(endome NA trium),1(lar ge_intestin e) NA 83 NA NA NA NA NA NA 0% 132 60 31.25% 246 1 0.40% 214 137 39.03% NA 483 1 0.21% 642 81 11.20% NA NA 166 0 0% 98 82 45.56% NA NA NA 58 0 0% 50 45 47.37% NA NA NA 50 0 0% 56 24 NA NA NA 105 1 0.94% 104 70 40.23% NA NA NA 237 0 0% 175 134 43.37% NA NA NA 256 1 0.39% 197 147 42.73% NA NA NA 89 0 0% 53 30 36.14% NA NA NA 64 0 0% 61 42 40.78% rs202134 330 119 0 0% 128 113 46.89% NA 0.0001997 0 30% NA NA NA 246 0 0% 230 170 42.50% NA NA NA 143 0 0% 117 97 45.33% NA NA NA 197 0 0% 175 118 40.27% NA NA NA 89 0 0% 78 57 42.22% NA NA NA 86 0 0% 65 33 33.67% NA NA NA 69 0 0% 64 33 34.02% ID=COSM1 208326;OC CURENCE NA =1(skin),1(l arge_intest ine) Index Negative MO_1109 4 175580225 175580225 G A GLRA3 Index Negative MO_1109 5 T CCDC152 stopgain CCDC152:NM_0011 34848:exon9:c.C658 NA T:p.Q220X MEGF10 Index Index Negative MO_1109 Negative MO_1109 42799776 42799776 C 5 126755897 126755897 C 5 127507429 127507429 C T T stopgain GLRA3:NM_001042 543:exon8:c.C1051T :p.R351X,GLRA3:N M_006529:exon8:c. C1051T:p.R351X NA 79 0 0% 61 49 44.55% NA NA 35 0 0% 28 22 stopgain MEGF10:NM_00125 6545:exon12:c.C158 8T:p.Q530X,MEGF1 NA 0:NM_032446:exon1 3:c.C1588T:p.Q530X NA NA 402 1 0.25% 258 196 43.17% SLC12A2 stopgain SLC12A2:NM_00104 6:exon19:c.C2794T: p.Q932X,SLC12A2:N NA M_001256461:exon1 9:c.C2794T:p.Q932X NA NA 43 0% 29 23 44.23% NA NA NA 615 1 0.16% 508 400 44.05% NA NA NA 42 0% 36 30 45.45% NA NA NA 170 1 0.58% 161 116 41.88% NA NA NA 22 0 0% 13 16 55.17% NA NA rs201599 657 103 0 0% 91 62 40.52% NA NA NA 199 1 0.50% 147 79 34.96% NA NA NA 202 0 0% 176 114 39.31% ID=COSM1 NOTCH1:NM_01761 40633,CO 7:exon31:c.C5767T: SM140632; NA p.Q1923X OCCUREN CE=1(skin) NA 554 2 0.36% 503 385 43.36% 0% 32 41 56.16% Index Negative MO_1109 6 43400314 G A ABCC10 stopgain Index Negative MO_1109 6 109885392 109885392 C T AK9 stopgain Index Negative MO_1109 7 103137044 103137044 C T RELN stopgain Index Negative MO_1109 7 132570481 132570481 G A CHCHD3 stopgain Index Negative MO_1109 8 6357381 6357381 G A MCPH1 stopgain Index Negative MO_1109 8 8560042 8560042 T A CLDN23 stopgain Index Negative MO_1109 9 135418429 135418429 C T C9orf171 stopgain 43400314 Index Negative MO_1109 9 139395171 139395171 G A NOTCH1 stopgain Index Negative MO_1109 10 134626389 134626389 C T CFAP46 stopgain Index Negative MO_1109 11 1275377 1275377 C A MUC5B stopgain Index Negative MO_1109 11 7846764 7846764 A T OR5P3 stopgain Index Negative MO_1109 11 62445064 62445064 C A UBXN1 stopgain Index Negative MO_1109 11 124180632 124180632 G A OR8D1 stopgain Index Negative MO_1109 12 550124 550124 C T CCDC77 stopgain Index Negative MO_1109 12 40114607 40114607 C T C12orf40 stopgain Index Negative MO_1109 13 66879001 66879001 C T PCDH9 Index Negative MO_1109 13 103392674 103392674 C T CCDC168 stopgain Index Negative MO_1109 14 100150845 100150845 G T CYP46A1 stopgain Index Negative MO_1109 15 T C15orf54 stopgain 39544565 39544565 G stopgain ABCC10:NM_03345 0:exon1:c.G467A:p. W156X,ABCC10:NM _001198934:exon3:c .G596A:p.W199X AK9:NM_001145128 :exon23:c.G2526A:p. W842X RELN:NM_005045:e xon56:c.G9122A:p. W3041X,RELN:NM_ 173054:exon56:c.G9 122A:p.W3041X CHCHD3:NM_01781 2:exon5:c.C394T:p.R 132X MCPH1:NM_024596: exon12:c.G2145A:p. W715X CLDN23:NM_19428 4:exon1:c.T134A:p.L 45X C9orf171:NM_00128 2957:exon5:c.C727T :p.Q243X,C9orf171: NM_207417:exon6:c .C835T:p.Q279X CFAP46:NM_001200 049:exon55:c.G7401 A:p.W2467X MUC5B:NM_002458: exon34:c.C15273A:p .Y5091X OR5P3:NM_153445: exon1:c.T756A:p.Y2 52X UBXN1:NM_001286 078:exon5:c.G400T: p.E134X,UBXN1:NM _001286077:exon7:c .G577T:p.E193X,UB XN1:NM_015853:ex on7:c.G577T:p.E193 X OR8D1:NM_001002 917:exon1:c.C31T:p. Q11X CCDC77:NM_00113 0148:exon10:c.C118 6T:p.R396X,CCDC7 7:NM_001130146:ex on11:c.C1186T:p.R3 96X,CCDC77:NM_00 1130147:exon11:c.C 1186T:p.R396X,CCD C77:NM_032358:exo n12:c.C1282T:p.R42 8X C12orf40:NM_00103 1748:exon13:c.C151 3T:p.Q505X PCDH9:NM_020403: exon4:c.G3398A:p. W1133X,PCDH9:NM _203487:exon5:c.G3 500A:p.W1167X CCDC168:NM_0011 46197:exon4:c.G103 73A:p.W3458X CYP46A1:NM_0066 68:exon1:c.G91T:p. E31X C15orf54:NM_20744 5:exon2:c.G229T:p. E77X 0 0 0 44% NA NA NA 71 NA NA NA 686 1 0.15% 579 419 41.98% NA NA NA 372 0 0% 299 230 43.48% NA NA NA 200 0 0% 162 123 43.16% NA NA NA 126 0 0% 88 68 43.59% NA NA rs201607 542 163 0 0% 116 99 46.05% NA NA NA 89 0 0% 54 44 44.90% NA NA NA 325 0 0% 211 150 41.55% NA NA NA 125 0 0% 85 57 40.14% NA NA NA 35 0 0% 34 25 42.37% NA NA NA 205 0 0% 19 138 87.90% Index Negative MO_1109 16 74524979 74524979 G A GLG1 stopgain Index Negative MO_1109 16 74657939 74657939 G A RFWD3 stopgain Index Negative MO_1109 17 46929952 46929952 A T CALCOC stopgain O2 Index Negative MO_1109 17 57271093 57271093 C T PRR11 stopgain Index Negative MO_1109 17 57274921 57274921 C T PRR11 stopgain Index Negative MO_1109 19 7743281 7743281 G A MCEMP1 stopgain Index Negative MO_1109 19 9084575 9084575 G A MUC16 stopgain Index Negative MO_1109 19 16918926 16918926 G A NWD1 stopgain Index Negative MO_1109 19 52001439 52001439 C T SIGLEC1 stopgain 2 Index Negative MO_1109 19 57035811 57035811 G A ZNF471 stopgain Index Negative MO_1109 20 17417450 17417450 G A PCSK2 stopgain Index Negative MO_1109 20 31671643 31671643 G T BPIFB4 stopgain Index Negative MO_1109 20 58475201 58475201 G A SYCP2 stopgain Index Negative MO_1109 21 41300926 41300926 C T PCP4 stopgain Index Negative MO_1109 22 42276821 42276821 G A SREBF2 stopgain Index Negative MO_1109 56310785 56310785 G A KLF8 stopgain Index Negative MO_1109 7 63726447 63726447 C T ZNF679 stopgain Index Negative MO_1109 7 152132814 152132814 C A KMT2C stopgain Index Negative MO_1109 1 152188186 152188186 C T HRNR stopgain Index Negative MO_1109 19 47615847 47615847 C T ZC3H4 unknown Index Negative MO_1109 8 48801604 48801605 GG AA PRKDC Index Negative MO_1109 1 119929419 119929419 C X T HAO2 GLG1:NM_00114566 6:exon7:c.C1336T:p. R446X,GLG1:NM_00 1145667:exon8:c.C1 NA 369T:p.R457X,GLG1 :NM_012201:exon8: c.C1369T:p.R457X NA NA 271 0 0% 216 164 43.16% NA NA NA 220 0 0% 158 95 37.55% NA NA NA 101 0 0% 72 63 46.67% NA NA NA 180 0 0% 130 93 41.70% NA NA NA 54 0 0% 44 48 52.17% NA NA NA 272 0 0% 185 NA NA NA 371 1 0.27% 263 199 43.07% NA NA NA 125 0 0% 82 67 44.97% NA NA NA 337 1 0.30% 214 136 38.86% NA NA NA 140 0 0% 76 72 48.65% NA NA NA 277 0 0% 201 182 47.52% NA NA NA 65 0 0% 71 48 40.34% NA NA NA 68 0 0% 64 50 43.86% PCP4:NM_006198:e NA xon3:c.C79T:p.Q27X NA NA 101 0 0% 93 69 42.59% NA NA NA 177 0 0% 260 106 28.96% NA NA NA 75 0 0% 4 71 94.67% NA NA NA 84 0 0% 68 34 33.33% NA NA NA 102 0 0% 75 57 43.18% NA NA NA 271 0 0% 319 NA NA NA NA 63 0 0% 57 42 42.42% unknown UNKNOWN NA NA NA 53 0 0% 30 23 43.40% unknown UNKNOWN NA NA NA 98 0 0% 89 45 33.58% NA 354 0 0% 265 213 44.56% 32 164 45 67 94 13 147 43 52 70 RFWD3:NM_018124 :exon13:c.C2212T:p. Q738X CALCOCO2:NM_00 1261393:exon7:c.A6 61T:p.K221X,CALC OCO2:NM_0012613 95:exon7:c.A571T:p. K191X,CALCOCO2: NM_005831:exon8:c .A787T:p.K263X,CA LCOCO2:NM_00126 1390:exon9:c.A859T :p.K287X,CALCOCO 2:NM_001261391:ex on9:c.A850T:p.K284 X PRR11:NM_018304: exon5:c.C643T:p.Q2 15X PRR11:NM_018304: exon8:c.C874T:p.Q2 92X MCEMP1:NM_17491 8:exon4:c.G368A:p. W123X MUC16:NM_024690: exon1:c.C7240T:p.Q 2414X NWD1:NM_0010075 25:exon18:c.G4266A :p.W1422X,NWD1:N M_001290355:exon1 9:c.G3861A:p.W128 7X SIGLEC12:NM_0333 29:exon4:c.G884A:p. W295X,SIGLEC12:N M_053003:exon5:c. G1238A:p.W413X ZNF471:NM_020813 :exon5:c.G375A:p.W 125X PCSK2:NM_001201 529:exon7:c.G702A: p.W234X,PCSK2:N M_002594:exon8:c. G807A:p.W269X,PC SK2:NM_001201528 :exon9:c.G750A:p.W 250X BPIFB4:NM_182519: exon3:c.G640T:p.E2 14X SYCP2:NM_014258: exon17:c.C1396T:p. Q466X SREBF2:NM_00459 9:exon10:c.G1863A: p.W621X KLF8:NM_007250:ex on6:c.G938A:p.W31 3X ZNF679:NM_153363 :exon5:c.C436T:p.Q 146X KMT2C:NM_170606: exon1:c.G58T:p.E20 X HRNR:NM_0010099 31:exon3:c.G5919A: p.W1973X 10 33 5.13% 9.38% Index Negative MO_1109 1 234367459 234367459 G A SLC35F3 unknown UNKNOWN ID=COSM5 33126;OC NA CURENCE =1(lung) Index Index Index Index Index Negative Negative Negative Negative Negative 2 172248673 172248673 G 2 234112864 234112864 G 3 57407396 57407396 C 3 57415466 57415466 G 3 57443848 57443848 T A A T A G unknown unknown unknown unknown unknown UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 28 216 55 71 100 0 0% 1 0.46% 0 0% 0 0% 0 0% Index Negative MO_1109 4 82378741 C G unknown UNKNOWN NA NA NA 123 0 0% 85 68 44.44% Index Index Index Negative MO_1109 Negative MO_1109 Negative MO_1109 4 121631547 121631547 C 4 155670275 155670275 G 5 94207079 94207079 C T A T METTL8 INPP5D DNAH12 DNAH12 DNAH12 RASGEF1 B PRDM5 LRAT MCTP1 unknown unknown unknown UNKNOWN UNKNOWN UNKNOWN NA NA NA NA NA NA NA NA NA 159 202 56 0 0 0 0% 0% 0% 115 159 41 82 41.62% 110 40.89% 37 47.44% MO_1109 MO_1109 MO_1109 MO_1109 MO_1109 82378741 28.89% 47.27% 48.86% 43.70% 42.68% Index Index Index Index Index Index Index Index Index Negative Negative Negative Negative Negative Negative Negative Negative Negative Index Index Index Index Index MO_1109 MO_1109 MO_1109 MO_1109 MO_1109 MO_1109 MO_1109 MO_1109 MO_1109 5 148577816 148577816 C 8 142505440 142505440 C 9 130984610 130984610 C 12 40926052 40926052 G 12 40953047 40953047 G 13 99452598 99452598 C 15 30065557 30065557 G 15 33954526 33954526 C 15 34040320 34040320 G T T T A A T A T A ABLIM3 MROH5 DNM1 MUC19 MUC19 DOCK9 TJP1 RYR3 RYR3 unknown unknown unknown unknown unknown unknown unknown unknown unknown UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 473 140 371 58 68 205 58 352 116 2 0 1 0 0 1 0 2 0 0.42% 0% 0.27% 0% 0% 0.49% 0% 0.56% 0% 343 100 329 40 54 140 5 45 14 Negative MO_1109 17 48213014 C T PPP1R9B unknown UNKNOWN NA NA NA 125 0 0% 92 Negative Negative Negative Negative 17 73699939 73699939 G 5 140569068 140569068 C 7 72242497 72242497 C 19 55359381 55359381 G A T T A SAP30BP PCDHB9 TYW1B KIR2DS4 NA NA NA NA NA NA NA NA NA NA NA NA 146 88 192 151 0 0 0 0 0% 0% 0% 0% 150 62 154 137 NA NA NA 117 0 0% 206 73 26.16% NA NA NA 201 0 0% 198 119 37.54% NA NA NA 40 0 0% 56 nonframeshift TOE1:NM_025077:e NA substitution xon8:c.1057_1058TT NA NA 269 0 0% 291 154 34.61% NA NA NA 246 0 0% 192 138 41.82% NA NA NA 287 1 0.35% 365 243 39.97% NA NA NA 150 0 0% 160 88 35.48% NA NA NA 37 0 0% 47 34 41.98% NA NA NA 220 1 0.45% 274 148 35.07% NA NA NA 123 0 0% 222 108 32.73% NA NA NA 263 2 0.75% 287 143 33.26% NA NA NA 202 0 0% 145 79 35.27% NA NA NA 76 0 0% 84 50 37.31% NA NA NA 251 0 0% 263 124 32.04% NA NA NA 268 0 0% 459 236 33.96% NA NA NA 287 0 0% 348 185 34.71% NA NA NA 141 2 1.40% 134 43 24.29% NA NA NA 106 0 0% 87 30 25.64% NA NA NA 183 0 0% 78 89 53.29% NA NA NA 109 0 0% 84 37 30.58% MO_1109 MO_1109 MO_1109 MO_1109 48213014 Validation Negative METMCC_862 18 61231210 Validation Negative METMCC_862 1 27087533 Validation Negative METMCC_862 1 39889705 Validation Negative METMCC_862 1 45808898 UNKNOWN UNKNOWN UNKNOWN UNKNOWN SERPINB12:NM_08 SERPINB frameshift 61231211 GG AA 0474:exon5:c.503_5 12 substitution 03AA ARID1A:NM_006015 :exon5:c.2107_2108 nonframeshift 27087534 CC TT ARID1A TT,ARID1A:NM_139 substitution 135:exon5:c.2107_2 108TT MACF1:NM_012090: nonframeshift 39889706 CC TT MACF1 exon55:c.9969_9970 substitution TT 45808899 CC TT TOE1 unknown unknown unknown unknown Validation Negative METMCC_862 1 46073524 CC TT NASP nonframeshift substitution Validation Negative METMCC_862 1 151278767 151278768 GG AA PI4KB nonframeshift substitution Validation Negative METMCC_862 1 153915512 153915513 GG AA Validation Negative METMCC_862 2 133483203 133483204 GG AA NCKAP5 nonframeshift substitution Validation Negative METMCC_862 3 42605154 42605155 GG AA SEC22C nonframeshift substitution Validation Negative METMCC_862 3 44929189 44929190 CC TT TGM4 nonframeshift substitution Validation Negative METMCC_862 3 47957854 47957855 GG AA MAP4 nonframeshift substitution Validation Negative METMCC_862 3 112546003 112546004 GG AA Validation Negative METMCC_862 3 119526283 119526284 GG AA NR1I2 nonframeshift substitution Validation Negative METMCC_862 3 130287356 130287357 GG AA COL6A6 nonframeshift substitution Validation Negative METMCC_862 5 140221770 140221771 GG AA PCDHA8 nonframeshift substitution Validation Negative METMCC_862 5 140699007 140699008 GG AA TAF7 nonframeshift substitution Validation Negative METMCC_862 5 140953264 140953265 GG AA DIAPH1 nonframeshift substitution Validation Negative METMCC_862 5 140953486 140953487 GG AA DIAPH1 nonframeshift substitution Validation Negative METMCC_862 5 178310160 178310161 AA TT ZNF354B nonframeshift substitution Validation Negative METMCC_862 6 nonframeshift substitution 46073523 30308096 DENND4 nonframeshift B substitution CD200R1 nonframeshift L substitution 30308097 GG AA TRIM39 NASP:NM_0011951 93:exon4:c.748_749 TT,NASP:NM_00248 2:exon6:c.940_941T T PI4KB:NM_0011987 75:exon3:c.258_259 TT,PI4KB:NM_0011 98774:exon4:c.1209 _1210TT,PI4KB:NM _001198773:exon6:c .1209_1210TT,PI4K B:NM_002651:exon6 :c.1290_1291TT DENND4B:NM_0148 56:exon3:c.411_412 TT NCKAP5:NM_20748 1:exon17:c.1752_17 53TT,NCKAP5:NM_ 207363:exon19:c.57 09_5710TT SEC22C:NM_00120 1572:exon3:c.206_2 07TT,SEC22C:NM_0 01201584:exon3:c.2 06_207TT,SEC22C: NM_004206:exon3:c .206_207TT,SEC22 C:NM_032970:exon3 :c.206_207TT TGM4:NM_003241:e xon3:c.202_203TT MAP4:NM_0011343 64:exon7:c.1462_14 63TT,MAP4:NM_002 375:exon7:c.1462_1 463TT CD200R1L:NM_001 008784:exon4:c.515 _516TT,CD200R1L: NM_001199215:exo n5:c.452_453TT NR1I2:NM_003889:e xon2:c.186_187AA,N R1I2:NM_022002:ex on2:c.303_304AA,N R1I2:NM_033013:ex on2:c.186_187AA COL6A6:NM_00110 2608:exon5:c.2309_ 2310AA PCDHA8:NM_01891 1:exon1:c.864_865A A,PCDHA8:NM_031 856:exon1:c.864_86 5AA TAF7:NM_005642:ex on1:c.604_605TT DIAPH1:NM_001079 812:exon15:c.2125_ 2126TT,DIAPH1:NM _005219:exon16:c.2 152_2153TT DIAPH1:NM_001079 812:exon15:c.1903_ 1904TT,DIAPH1:NM _005219:exon16:c.1 930_1931TT ZNF354B:NM_05823 0:exon5:c.707_708T T TRIM39:NM_021253 :exon7:c.851_852AA 244 77 298 35 43 126 25 207 56 41.57% 43.50% 47.53% 46.67% 44.33% 47.37% 83.33% 82.14% 80% 90 49.45% 114 59 109 28 24 43.18% 48.76% 41.44% 16.97% 30% nonframeshift substitution Validation Negative METMCC_862 6 158902201 158902202 CC TT TULP4 Validation Negative METMCC_862 7 1587537 Validation Negative METMCC_862 7 70254952 70254953 CC TT AUTS2 nonframeshift substitution Validation Negative METMCC_862 7 97851754 97851755 AC TT TECPR1 nonframeshift substitution Validation Negative METMCC_862 7 100319242 100319243 CC TT EPO Validation Negative METMCC_862 7 148851053 148851054 CC TT ZNF398 Validation Negative METMCC_862 8 19819644 19819645 GG AA LPL Validation Negative METMCC_862 8 70981757 70981758 GG AA PRDM14 1587538 GG AA NA NA NA 211 0 0% 222 138 38.33% NA NA NA 29 0 0% 39 16 29.09% NA NA NA 125 0 0% 211 80 27.49% NA NA NA 71 0 0% 101 50 33.11% NA NA NA 179 0 0% 195 114 36.89% NA NA NA 188 0 0% 254 110 30.22% NA NA NA 160 0 0% 57 71 55.47% NA NA NA 198 0 0% 312 327 51.17% ENY2:NM_00119355 nonframeshift 7:exon5:c.223_224T NA substitution T,ENY2:NM_020189 :exon5:c.238_239TT NA NA 288 2 0.69% 237 205 46.38% NA NA NA 56 0 0% 73 30 29.13% NA NA NA 244 0 0% 291 145 33.26% NA NA NA 206 0 0% 207 109 34.49% NA NA NA 246 2 0.81% 453 200 30.63% NA NA NA 140 1 0.71% 222 111 33.33% NA NA NA 207 0 0% 273 150 35.46% NA NA NA 158 0 0% 244 134 35.45% NA NA NA 357 0 0% 394 181 31.48% NA NA NA 299 0 0% 398 193 32.66% NA NA NA 198 0 0% 231 109 32.06% nonframeshift CEP128:NM_152446 NA substitution :exon5:c.396_397AA NA NA 319 0 0% 267 114 29.92% NA NA NA 134 0 0% 171 89 34.23% NA NA NA 228 2 0.87% 108 134 55.37% NA NA NA 115 0 0% 58 114 66.28% NA NA NA 200 0 0% 327 153 31.87% NA NA NA 202 0 0% 243 118 32.69% NA NA NA 255 0 0% 438 145 24.87% NA NA NA 191 1 0.52% 383 111 22.47% NA NA NA 158 0 0% 400 155 27.93% NA NA NA 201 0 0% 397 327 45.17% TMEM184 nonframeshift A substitution Validation Negative METMCC_862 8 110355642 110355643 CC TT ENY2 Validation Negative METMCC_862 9 138908143 138908144 CC TT NACC2 TULP4:NM_0010074 66:exon8:c.1366_13 67TT,TULP4:NM_02 0245:exon8:c.1366_ 1367TT TMEM184A:NM_001 097620:exon8:c.852 _853TT AUTS2:NM_0011272 31:exon18:c.2678_2 679TT,AUTS2:NM_0 15570:exon19:c.275 0_2751TT TECPR1:NM_01539 5:exon22:c.3007_30 08AA EPO:NM_000799:ex on2:c.75_76TT ZNF398:NM_170686 :exon2:c.41_42TT LPL:NM_000237:exo n9:c.1341_1342AA PRDM14:NM_02450 4:exon2:c.338_339T T nonframeshift substitution nonframeshift substitution nonframeshift substitution nonframeshift substitution NACC2:NM_144653: nonframeshift exon3:c.1018_1019A substitution A AMBRA1:NM_00126 7782:exon7:c.680_6 81TT,AMBRA1:NM_ nonframeshift 46564887 GG AA AMBRA1 001267783:exon7:c. substitution 680_681TT,AMBRA 1:NM_017749:exon7 :c.680_681TT SSSCA1:NM_00639 nonframeshift 65339036 CC TT SSSCA1 6:exon4:c.430_431T substitution T RIN1:NM_004292:ex nonframeshift 66100005 GG AA RIN1 on10:c.2094_2095T substitution T nonframeshift RCE1:NM_005133:e 66610978 GG AA RCE1 substitution xon1:c.51_52AA DSCAML1:NM_0206 nonframeshift 117667821 GG AA DSCAML1 93:exon1:c.154_155 substitution TT BCL9L:NM_182557: nonframeshift 118773301 GG AA BCL9L exon6:c.1151_1152T substitution T nonframeshift ETNK1:NM_018638: 22814066 CC TT ETNK1 substitution exon4:c.893_894TT nonframeshift INHBE:NM_031479: 57850248 CC TT INHBE substitution exon2:c.669_670TT ELMSAN1:NM_0010 43318:exon6:c.2200 nonframeshift 74193638 GG AA ELMSAN1 _2201TT,ELMSAN1: substitution NM_194278:exon6:c .2200_2201TT Validation Negative METMCC_862 11 46564886 Validation Negative METMCC_862 11 65339035 Validation Negative METMCC_862 11 66100004 Validation Negative METMCC_862 11 66610977 Validation Negative METMCC_862 11 117667820 Validation Negative METMCC_862 11 118773300 Validation Negative METMCC_862 12 22814065 Validation Negative METMCC_862 12 57850247 Validation Negative METMCC_862 14 74193637 Validation Negative METMCC_862 14 81371240 81371241 CC TT CEP128 Validation Negative METMCC_862 14 95057151 95057152 CC TT Validation Negative METMCC_862 16 67662454 67662455 GG AA Validation Negative METMCC_862 16 88643881 88643882 CC TT Validation Negative METMCC_862 17 7983999 7984000 GG AA Validation Negative METMCC_862 17 79872534 79872535 CC TT Validation Negative METMCC_862 18 56202116 56202117 GG AC Validation Negative METMCC_862 18 74592176 74592177 GG AA Validation Negative METMCC_862 19 1470061 1470062 GG AA Validation Negative METMCC_862 19 6452353 6452354 GG AA SERPINA5:NM_000 SERPINA nonframeshift 624:exon5:c.956_95 5 substitution 7TT CTCF:NM_00119102 2:exon7:c.716_717A nonframeshift CTCF A,CTCF:NM_006565 substitution :exon9:c.1700_1701 AA ZC3H18:NM_001294 340:exon2:c.350_35 nonframeshift ZC3H18 1TT,ZC3H18:NM_14 substitution 4604:exon2:c.350_3 51TT ALOX12B:NM_0011 nonframeshift ALOX12B 39:exon5:c.626_627 substitution TT nonframeshift SIRT7:NM_016538:e SIRT7 substitution xon6:c.524_525AA ALPK2:NM_052947: nonframeshift ALPK2 exon5:c.5302_5303 substitution GT ZNF236:NM_007345 nonframeshift ZNF236 :exon8:c.1086_1087 substitution AA APC2:NM_005883:e nonframeshift APC2 xon15:c.6761_6762A substitution A SLC25A23:NM_0241 SLC25A2 nonframeshift 03:exon8:c.1040_10 substitution 3 41TT Validation Negative METMCC_862 Validation Negative METMCC_862 Validation Negative METMCC_862 19 19 19 11123707 SMARCA4:NM_0011 28845:exon15:c.235 7_2358TA,SMARCA 4:NM_001128846:ex on15:c.2357_2358T A,SMARCA4:NM_00 1128847:exon15:c.2 357_2358TA,SMAR SMARCA nonframeshift CA4:NM_001128848 11123708 CC TA NA 4 substitution :exon15:c.2357_235 8TA,SMARCA4:NM_ 001128849:exon16:c .2357_2358TA,SMA RCA4:NM_003072:e xon16:c.2357_2358T A,SMARCA4:NM_00 1128844:exon17:c.2 357_2358TA NA NA 100 0 0% 167 135 44.70% 33333098 33333099 CC TT SLC7A9 SLC7A9:NM_001126 335:exon11:c.1199_ 1200AA,SLC7A9:NM nonframeshift _001243036:exon11: NA substitution c.1199_1200AA,SLC 7A9:NM_014270:exo n11:c.1199_1200AA NA NA 136 0 0% 116 119 50.64% 49850549 CC TT TEAD2 TEAD2:NM_0012566 58:exon9:c.816_817 AA,TEAD2:NM_0012 56659:exon9:c.816_ 817AA,TEAD2:NM_0 01256662:exon9:c.4 nonframeshift 23_424AA,TEAD2:N NA substitution M_003598:exon9:c.8 07_808AA,TEAD2:N M_001256660:exon1 0:c.819_820AA,TEA D2:NM_001256661:e xon10:c.819_820AA NA NA 186 0 0% 257 232 47.44% NA NA NA 129 0 0% 337 108 24.27% NA NA NA 43 0 0% 94 49 34.27% NA NA NA 221 0 0% 236 143 37.73% NA NA NA 137 0 0% 204 97 32.23% TLR8:NM_138636:ex nonframeshift on2:c.2742_2743TT, NA substitution TLR8:NM_016610:ex on3:c.2796_2797TT NA NA 213 0 0% 207 117 36.11% NA NA NA 263 0 0% 199 603 75.19% NA NA NA 79 0 0% 97 64 39.75% NA NA NA 149 0 0% 142 80 36.04% NA NA NA 162 0 0% 387 179 31.63% NA NA NA 119 1 0.83% 172 98 36.30% NA NA NA 87 0 0% 96 23 19.33% 0.0002 NA 192 0 0% 407 241 37.19% 49850548 Validation Negative METMCC_862 19 49901359 49901360 CC TT Validation Negative METMCC_862 20 44803156 44803157 GG AA Validation Negative METMCC_862 22 21341819 21341820 CC TT Validation Negative METMCC_862 22 24086127 24086128 GG AA Validation Negative METMCC_862 X 12939901 CCDC155:NM_1446 nonframeshift CCDC155 88:exon7:c.588_589 substitution TT CDH22:NM_021248: nonframeshift CDH22 exon12:c.2475_2476 substitution TT nonframeshift LZTR1:NM_006767: LZTR1 substitution exon4:c.347_348TT ZNF70:NM_021916: nonframeshift ZNF70 exon2:c.1200_1201T substitution T 12939902 CC TT TLR8 Validation Negative METMCC_862 X 30269196 30269197 CC TT MAGEB1 nonframeshift substitution Validation Negative METMCC_862 X 70148052 70148053 GG AA SLC7A3 nonframeshift substitution Validation Negative METMCC_862 X 90690736 90690737 GG AA PABPC5 nonframeshift substitution Validation Negative METMCC_862 1 1222284 1222284 C T SCNN1D nonsynonymo us SNV Validation Negative METMCC_862 1 10720335 10720335 G C CASZ1 nonsynonymo us SNV Validation Negative METMCC_862 1 11562083 11562083 C T PTCHD2 nonsynonymo us SNV Validation Negative METMCC_862 1 12082320 12082320 C T MIIP nonsynonymo us SNV Validation Negative METMCC_862 1 14109226 14109226 G A PRDM2 nonsynonymo us SNV Validation Negative METMCC_862 1 16261887 16261887 C T SPEN nonsynonymo us SNV Validation Negative METMCC_862 1 19186063 19186063 C T TAS1R2 nonsynonymo us SNV Validation Negative METMCC_862 1 20005587 20005587 C T HTR6 nonsynonymo us SNV MAGEB1:NM_17740 4:exon2:c.586_587T T,MAGEB1:NM_177 415:exon3:c.586_58 7TT,MAGEB1:NM_0 02363:exon4:c.586_ 587TT SLC7A3:NM_001048 164:exon5:c.762_76 3TT,SLC7A3:NM_03 2803:exon5:c.762_7 63TT PABPC5:NM_08083 2:exon2:c.160_161A A SCNN1D:NM_00113 0413:exon8:c.C1048 T:p.H350Y CASZ1:NM_0010798 43:exon6:c.C764G:p. P255R,CASZ1:NM_0 17766:exon6:c.C764 G:p.P255R PTCHD2:NM_02078 0:exon2:c.C1034T:p. P345L MIIP:NM_021933:ex on3:c.C283T:p.L95F PRDM2:NM_001007 257:exon3:c.G4333A :p.G1445R,PRDM2: NM_012231:exon8:c .G4936A:p.G1646R, PRDM2:NM_015866: exon8:c.G4936A:p.G 1646R SPEN:NM_015001:e xon11:c.C9152T:p.S 3051F TAS1R2:NM_152232 :exon1:c.G92A:p.G3 1E HTR6:NM_000871:e xon3:c.C1049T:p.S3 50L NA NA NA NA 232 0 0% 239 120 33.43% NA NA NA 263 0 0% 565 363 39.12% NA NA NA 154 0 0% 132 77 36.84% NA NA rs201409 930 130 0 0% 138 89 39.21% Validation Negative METMCC_862 1 27238427 27238427 G A NR0B2 Validation Negative METMCC_862 1 35650142 35650142 G A SFPQ Validation Negative METMCC_862 1 35852706 35852706 G A Validation Negative METMCC_862 1 37325604 37325604 T A Validation Negative METMCC_862 1 41608597 41608597 G A Validation Negative METMCC_862 1 43719816 43719816 C T Validation Negative METMCC_862 1 47610519 47610519 G A Validation Negative METMCC_862 1 75037210 75037210 C T Validation Negative METMCC_862 1 78392447 78392447 G A Validation Negative METMCC_862 1 79412057 79412057 G T Validation Negative METMCC_862 1 82456593 82456593 C T Validation Negative METMCC_862 1 89448735 89448735 C T Validation Negative METMCC_862 1 89849259 89849259 G A Validation Negative METMCC_862 1 99380389 99380389 T A Validation Negative METMCC_862 1 103387102 103387102 C T Validation Negative METMCC_862 1 109268596 109268596 C T Validation Negative METMCC_862 1 115398089 115398089 G A Validation Negative METMCC_862 1 116666901 116666901 G A Validation Negative METMCC_862 1 120497769 120497769 G A ID=COSM1 NR0B2:NM_021969: 217762;OC nonsynonymo exon2:c.C683T:p.P2 CURENCE NA us SNV 28L =1(large_in testine) SFPQ:NM_005066:e nonsynonymo xon10:c.C2039T:p.P us SNV 680L ZMYM4:NM_005095: nonsynonymo ZMYM4 exon12:c.G1939A:p. us SNV G647R GRIK3:NM_000831: nonsynonymo GRIK3 exon6:c.A801T:p.L2 us SNV 67F SCMH1:NM_001172 222:exon2:c.C194T: p.P65L,SCMH1:NM_ 001172220:exon5:c. C152T:p.P51L,SCM H1:NM_001172221:e xon5:c.C152T:p.P51 L,SCMH1:NM_00103 nonsynonymo SCMH1 1694:exon6:c.C335T us SNV :p.P112L,SCMH1:N M_001172219:exon6 :c.C365T:p.P122L,S CMH1:NM_012236:e xon6:c.C194T:p.P65 L,SCMH1:NM_00117 2218:exon7:c.C152T :p.P51L CFAP57:NM_001195 nonsynonymo CFAP57 831:exon24:c.C3806 us SNV T:p.P1269L CYP4A22:NM_0010 nonsynonymo CYP4A22 10969:exon9:c.G109 us SNV 9A:p.D367N ERICH3:NM_001002 nonsynonymo ERICH3 912:exon14:c.G4184 us SNV A:p.G1395E NEXN:NM_0011723 09:exon7:c.G542A:p. nonsynonymo NEXN G181E,NEXN:NM_1 us SNV 44573:exon8:c.G734 A:p.G245E ELTD1:NM_022159: nonsynonymo ELTD1 exon3:c.C227A:p.T7 us SNV 6N NA 188 0 0% 225 114 33.63% NA NA NA 283 1 0.35% 214 133 38.33% NA NA NA 138 1 0.72% 81 41 33.61% NA NA NA 137 1 0.72% 194 88 31.21% NA NA NA 331 0 0% 353 194 35.47% NA NA NA 177 0 0% 189 126 NA NA NA 46 0 0% 47 31 39.74% NA NA NA 275 0 0% 447 242 35.12% NA NA NA 145 0 0% 142 101 41.56% NA NA NA 227 0 0% 186 103 35.64% NA 436 2 0.46% 594 285 32.42% NA 52 0 0% 23 17 42.50% NA 252 0 0% 199 NA 269 0 0% 260 162 38.39% NA 201 0 0% 153 35 18.62% NA 246 0 0% 237 133 35.95% NA 246 0 0% 324 175 35.07% NA 214 0 0% 231 120 34.19% NA 310 0 0% 277 141 33.73% ID=COSM1 687976,CO LPHN2:NM_012302: nonsynonymo SM168797 LPHN2 exon20:c.C3976T:p. NA us SNV 7;OCCUR P1326S ENCE=1(s kin) RBMXL1:NM_01961 0:exon2:c.G775A:p. nonsynonymo RBMXL1 G259S,RBMXL1:NM NA NA us SNV _001162536:exon3:c .G775A:p.G259S GBP6:NM_198460:e nonsynonymo GBP6 xon9:c.G1414A:p.E4 NA NA us SNV 72K LPPR5:NM_0010108 61:exon5:c.A886T:p. nonsynonymo LPPR5 S296C,LPPR5:NM_0 NA NA us SNV 01037317:exon5:c.A 886T:p.S296C COL11A1:NM_0806 30:exon46:c.G3332A :p.R1111K,COL11A1 :NM_001190709:exo n47:c.G3563A:p.R11 nonsynonymo COL11A1 88K,COL11A1:NM_0 NA NA us SNV 01854:exon48:c.G36 80A:p.R1227K,COL1 1A1:NM_080629:exo n48:c.G3716A:p.R12 39K ID=COSM4 23374,CO FNDC7:NM_001144 nonsynonymo SM147236 FNDC7 937:exon6:c.C1081T NA us SNV 7;OCCUR :p.P361S ENCE=1(br east) SYCP1:NM_001282 541:exon2:c.G4A:p. E2K,SYCP1:NM_001 nonsynonymo SYCP1 282542:exon2:c.G4A NA NA us SNV :p.E2K,SYCP1:NM_ 003176:exon2:c.G4A :p.E2K MAB21L3:NM_1523 nonsynonymo MAB21L3 67:exon4:c.G404A:p. NA NA us SNV G135E NOTCH2:NM_00120 0001:exon13:c.C211 nonsynonymo NOTCH2 3T:p.R705C,NOTCH NA us SNV 2:NM_024408:exon1 3:c.C2113T:p.R705C NA 98 40% 33% Validation Negative METMCC_862 1 149898331 149898331 G A Validation Negative METMCC_862 1 152130250 152130250 G A Validation Negative METMCC_862 1 156563335 156563335 G A Validation Negative METMCC_862 1 156641872 156641872 A G Validation Negative METMCC_862 1 158615348 158615348 C T Validation Negative METMCC_862 1 158648191 158648191 C T Validation Negative METMCC_862 1 160252848 160252848 C T SF3B4:NM_005850: nonsynonymo exon3:c.C643T:p.P2 NA us SNV 15S RPTN:NM_0011229 nonsynonymo RPTN 65:exon2:c.C116T:p. NA us SNV A39V ID=COSM2 APOA1BP:NM_1447 38814;OC nonsynonymo APOA1BP 72:exon5:c.G652A:p. CURENCE us SNV D218N =1(prostate ) NES:NM_006617:ex nonsynonymo NES on4:c.T2108C:p.L70 NA us SNV 3P SPTA1:NM_003126: nonsynonymo SPTA1 exon28:c.G3933A:p. NA us SNV M1311I SPTA1:NM_003126: nonsynonymo SPTA1 exon6:c.G812A:p.R2 NA us SNV 71K PEX19:NM_0011936 44:exon3:c.G232A:p. nonsynonymo PEX19 E78K,PEX19:NM_00 NA us SNV 2857:exon3:c.G232A :p.E78K SF3B4 Validation Negative METMCC_862 1 172277926 172277926 G A DNM3 Validation Negative METMCC_862 1 172501635 172501635 C T SUCO Validation Negative METMCC_862 1 178411996 178411996 C T Validation Negative METMCC_862 1 180047796 180047796 C T Validation Negative METMCC_862 1 182025687 182025687 G A Validation Negative METMCC_862 1 182811706 182811706 G A Validation Negative METMCC_862 1 197522169 197522169 G A Validation Negative METMCC_862 1 207139104 207139104 C T DNM3:NM_0011361 27:exon16:c.G1828A nonsynonymo :p.D610N,DNM3:NM us SNV _015569:exon16:c.G 1828A:p.D610N NA NA 226 0 0% 225 133 37.15% NA NA 158 0 0% 149 92 38.17% NA NA 270 1 0.37% 226 118 34.30% NA NA 124 0 0% 120 68 36.17% NA NA 298 0 0% 307 186 37.73% NA NA 126 0 0% 104 48 31.58% NA NA 118 0 0% 104 57 35.40% ID=COSM3 418339;OC CURENCE NA =1(large_in testine) NA 72 0 0% 50 30 37.50% NA NA 259 0 0% 223 115 34.02% NA NA 263 0 0% 293 149 33.71% NA NA 131 1 0.76% 94 44 31.88% NA NA 156 0 0% 217 121 35.80% NA NA 155 0 0% 130 NA NA 355 0 0% 400 229 36.41% nonsynonymo SUCO:NM_016227:e NA us SNV xon1:c.C23T:p.P8L RASAL2:NM_00484 1:exon6:c.C670T:p.L nonsynonymo RASAL2 224F,RASAL2:NM_1 NA us SNV 70692:exon8:c.C111 4T:p.L372F CEP350:NM_014810 nonsynonymo CEP350 :exon29:c.C5966T:p. NA us SNV S1989F ZNF648:NM_001009 nonsynonymo ZNF648 992:exon2:c.C1459T NA us SNV :p.R487C nonsynonymo DHX9:NM_001357:e DHX9 NA us SNV xon2:c.G5A:p.G2D DENND1B:NM_0011 95215:exon16:c.C12 DENND1 nonsynonymo 23T:p.S408L,DENN NA B us SNV D1B:NM_144977:ex on16:c.C1223T:p.S4 08L 70 35% FCAMR FCAMR:NM_001170 631:exon4:c.G269A: p.R90K,FCAMR:NM nonsynonymo _032029:exon4:c.G2 NA us SNV 69A:p.R90K,FCAMR: NM_001122979:exo n5:c.G269A:p.R90K NA NA 66 0 0% 87 48 35.56% NA 258 0 0% 391 193 33.05% NA NA 275 0 0% 177 78 30.59% NA NA 107 0 0% 119 76 38.97% NA NA 260 0 0% 220 133 37.68% NA NA 168 2 1.18% 166 76 31.40% NA NA 67 0 0% 61 28 31.46% NA NA 205 0 0% 199 NA NA 174 0 0% 91 137 60.09% NA NA 285 0 0% 97 179 64.86% Validation Negative METMCC_862 1 214638115 214638115 C T PTPN14 ID=COSM9 PTPN14:NM_005401 03727;OC nonsynonymo :exon2:c.G32A:p.R1 CURENCE NA us SNV 1Q =1(endome trium) Validation Negative METMCC_862 1 222794542 222794542 C T MIA3 nonsynonymo MIA3:NM_198551:ex NA us SNV on2:c.C175T:p.P59S Validation Negative METMCC_862 1 233464147 233464147 G A KIAA1804 Validation Negative METMCC_862 1 236142375 236142375 G A NID1 Validation Negative METMCC_862 1 236899897 236899897 G A ACTN2 Validation Negative METMCC_862 1 236900423 236900423 C T ACTN2 Validation Negative METMCC_862 1 248402886 248402886 C T OR2M4 Validation Negative METMCC_862 2 44502835 44502835 C T SLC3A1 Validation Negative METMCC_862 2 50847213 50847213 C T NRXN1 KIAA1804:NM_0324 nonsynonymo 35:exon1:c.G373A:p. NA us SNV E125K NID1:NM_002508:ex nonsynonymo on19:c.C3542T:p.S1 NA us SNV 181F ACTN2:NM_001278 nonsynonymo 344:exon10:c.G88A: NA us SNV p.D30N ACTN2:NM_001103: exon9:c.C785T:p.A2 62V,ACTN2:NM_001 nonsynonymo 278343:exon9:c.C78 NA us SNV 5T:p.A262V,ACTN2: NM_001278344:exo n11:c.C161T:p.A54V OR2M4:NM_017504: nonsynonymo exon1:c.C656T:p.S2 NA us SNV 19F SLC3A1:NM_000341 nonsynonymo :exon1:c.C161T:p.S5 NA us SNV 4F NRXN1:NM_004801: exon8:c.G1267A:p.A nonsynonymo 423T,NRXN1:NM_00 NA us SNV 1135659:exon9:c.G1 387A:p.A463T 98 33% ERLEC1:NM_00112 7397:exon3:c.C299T :p.P100L,ERLEC1:N M_001127398:exon3 :c.C299T:p.P100L,E RLEC1:NM_015701: exon3:c.C299T:p.P1 00L MTIF2:NM_002453:e xon5:c.G281T:p.W9 4L,MTIF2:NM_00100 5369:exon6:c.G281T :p.W94L SLC1A4:NM_001193 493:exon7:c.C479T: p.T160I,SLC1A4:NM _003038:exon8:c.C1 373T:p.T458I MEIS1:NM_002398: exon8:c.C796T:p.P2 66S ASPRV1:NM_15279 2:exon1:c.C1027T:p. H343Y TRABD2A:NM_0010 80824:exon5:c.G118 0A:p.E394K,TRABD 2A:NM_001277053:e xon6:c.G1327A:p.E4 43K PROM2:NM_001165 977:exon23:c.T2470 G:p.F824V,PROM2: NM_001165978:exo n23:c.T2470G:p.F82 4V,PROM2:NM_144 707:exon23:c.T2470 G:p.F824V VWA3B:NM_144992 :exon20:c.C2680T:p. P894S LYG2:NM_175735:e xon5:c.G418A:p.D14 0N SEPT10:NM_178584 :exon7:c.G916A:p.E 306K,SEPT10:NM_1 44710:exon8:c.G985 A:p.E329K LRP1B:NM_018557: exon60:c.C9460T:p. H3154Y MBD5:NM_018328:e xon9:c.C580A:p.L19 4I NEB:NM_001164507 :exon66:c.G9477A:p. M3159I,NEB:NM_00 1164508:exon66:c.G 9477A:p.M3159I,NE B:NM_001271208:ex on66:c.G9477A:p.M3 159I ACVR1C:NM_00111 1032:exon3:c.T320C :p.V107A,ACVR1C:N M_001111031:exon4 :c.T410C:p.V137A,A CVR1C:NM_145259: exon4:c.T560C:p.V1 87A LY75CD302:NM_0011987 59:exon34:c.C4985T :p.P1662L,LY75:NM _002349:exon34:c.C 4985T:p.P1662L FIGN:NM_018086:ex on3:c.C743T:p.P248 L UBR3:NM_172070:e xon22:c.C2953T:p.P 985S DFNB59:NM_00104 2702:exon3:c.T287A :p.I96N Validation Negative METMCC_862 2 54023101 54023101 C T ERLEC1 nonsynonymo us SNV Validation Negative METMCC_862 2 55489502 55489502 C A MTIF2 nonsynonymo us SNV Validation Negative METMCC_862 2 65248054 65248054 C T SLC1A4 nonsynonymo us SNV Validation Negative METMCC_862 2 66739334 66739334 C T MEIS1 nonsynonymo us SNV Validation Negative METMCC_862 2 70187794 70187794 G A ASPRV1 nonsynonymo us SNV Validation Negative METMCC_862 2 85051084 85051084 C T TRABD2A nonsynonymo us SNV Validation Negative METMCC_862 2 95954709 95954709 T G PROM2 nonsynonymo us SNV Validation Negative METMCC_862 2 98866787 98866787 C T VWA3B nonsynonymo us SNV Validation Negative METMCC_862 2 99860564 99860564 C T LYG2 nonsynonymo us SNV Validation Negative METMCC_862 2 110321986 110321986 C T Validation Negative METMCC_862 2 141232872 141232872 G A LRP1B nonsynonymo us SNV Validation Negative METMCC_862 2 149226092 149226092 C A MBD5 nonsynonymo us SNV Validation Negative METMCC_862 2 152487798 152487798 C T NEB nonsynonymo us SNV Validation Negative METMCC_862 2 158406889 158406889 A G ACVR1C nonsynonymo us SNV Validation Negative METMCC_862 2 160663489 160663489 G A LY75,LY7 nonsynonymo 5-CD302 us SNV Validation Negative METMCC_862 2 164467599 164467599 G A FIGN nonsynonymo us SNV Validation Negative METMCC_862 2 170804094 170804094 C T UBR3 nonsynonymo us SNV Validation Negative METMCC_862 2 179319134 179319134 T A DFNB59 nonsynonymo us SNV TTN TTN:NM_003319:ex on69:c.G17249A:p.G 5750E,TTN:NM_133 432:exon70:c.G1762 4A:p.G5875E,TTN:N M_133437:exon70:c. G17825A:p.G5942E, nonsynonymo TTN:NM_133378:ex us SNV on190:c.G36740A:p. G12247E,TTN:NM_0 01256850:exon191:c .G39521A:p.G13174 E,TTN:NM_0012675 50:exon241:c.G4444 4A:p.G14815E Validation Negative METMCC_862 2 179490104 179490104 C T 10-Sep nonsynonymo us SNV NA NA NA 271 0 0% 84 89 51.45% NA NA NA 223 0 0% 119 138 53.70% NA NA NA 77 0 0% 40 65 61.90% NA NA NA 195 0 0% 55 68 55.28% NA NA NA 147 0 0% 66 73 52.52% NA NA NA 57 0 0% 44 32 42.11% NA NA NA 185 0 0% 206 120 36.81% NA NA NA 172 0 0% 151 90 37.34% NA NA NA 104 0 0% 117 70 37.43% NA NA NA 65 0 0% 58 30 34.09% NA NA NA 291 0 0% 228 140 38.04% NA NA NA 396 0 0% 420 218 34.17% NA NA NA 110 0 0% 123 52 29.71% NA NA NA 293 0 0% 434 236 35.22% NA NA NA 294 1 0.34% 298 162 35.22% NA NA NA 203 0 0% 210 108 33.96% NA NA NA 165 0 0% 110 50 31.25% NA NA NA 299 0 0% 233 149 39.01% ID=COSM4 76526,CO SM113649 5,COSM47 6528,COS NA M476529, COSM476 527;OCCU RENCE=1( kidney) NA 226 0 0% 205 96 31.89% Validation Negative METMCC_862 2 179588022 179588022 C T TTN nonsynonymo us SNV Validation Negative METMCC_862 2 179809294 179809294 G A CCDC141 nonsynonymo us SNV Validation Negative METMCC_862 2 185800571 185800571 G A ZNF804A nonsynonymo us SNV Validation Negative METMCC_862 2 186673072 186673072 C T FSIP2 nonsynonymo us SNV Validation Negative METMCC_862 2 202899834 202899834 G A FZD7 nonsynonymo us SNV Validation Negative METMCC_862 2 220333622 220333622 G A SPEG nonsynonymo us SNV Validation Negative METMCC_862 2 223918036 223918036 C T KCNE4 nonsynonymo us SNV Validation Negative METMCC_862 2 233393574 233393574 C T CHRND nonsynonymo us SNV Validation Negative METMCC_862 3 36422142 36422142 C T STAC Validation Negative METMCC_862 3 42777215 42777215 C T CCDC13 Validation Negative METMCC_862 3 56763546 56763546 G A Validation Negative METMCC_862 3 58410618 58410618 C T Validation Negative METMCC_862 3 64004634 64004634 C T TTN:NM_133378:ex on72:c.G17980A:p.D 5994N,TTN:NM_001 256850:exon73:c.G2 0761A:p.D6921N,TT N:NM_001267550:ex on75:c.G21712A:p.D 7238N CCDC141:NM_1736 48:exon6:c.C865T:p. H289Y ZNF804A:NM_19425 0:exon4:c.G448A:p. E150K FSIP2:NM_173651:e xon17:c.C19306T:p. L6436F FZD7:NM_003507:e xon1:c.G464A:p.G15 5D SPEG:NM_005876:e xon12:c.G3343A:p.D 1115N KCNE4:NM_080671: exon2:c.C641T:p.S2 14L CHRND:NM_001256 657:exon5:c.C467T: p.S156F,CHRND:NM _000751:exon6:c.C5 12T:p.S171F NA NA NA 297 0 0% 314 165 34.45% NA NA NA 120 0 0% 146 85 36.80% NA NA NA 209 0 0% 166 106 38.97% NA NA NA 218 0 0% 192 104 35.14% NA NA NA 211 0 0% 360 194 35.02% NA NA NA 165 0 0% 275 117 29.85% NA NA NA 224 0 0% 259 119 31.48% NA NA NA 83 0 0% 53 79 59.85% STAC:NM_00129204 nonsynonymo 9:exon1:c.C7T:p.P3 NA us SNV S,STAC:NM_003149 :exon1:c.C7T:p.P3S NA NA 175 0 0% 367 186 33.63% NA NA 205 0 0% 293 155 34.60% ID=COSM1 047575,CO SM159401 8,COSM15 94020,CO NA SM159401 9;OCCUR ENCE=1(e ndometriu m) NA 243 0 0% 245 142 36.69% NA NA NA 176 0 0% 151 84 35.74% NA NA NA 238 0 0% 238 128 34.97% ID=COSM1 693293;OC NA CURENCE =1(skin) NA 171 0 0% 176 101 36.46% NA NA NA 243 0 0% 201 88 30.45% NA NA NA 42 0 0% 68 45 39.82% NA NA NA 142 0 0% 102 NA NA NA 33 0 0% 22 15 40.54% NA NA NA 241 0 0% 207 121 36.89% NA NA NA 310 0 0% 391 194 33.16% CCDC13:NM_14471 nonsynonymo 9:exon10:c.G1355A: us SNV p.G452E ARHGEF3:NM_0011 28616:exon10:c.C13 51T:p.R451C,ARHG EF3:NM_019555:exo n10:c.C1333T:p.R44 nonsynonymo ARHGEF3 5C,ARHGEF3:NM_0 us SNV 01289698:exon11:c. C1351T:p.R451C,AR HGEF3:NM_001128 615:exon13:c.C1429 T:p.R477C PXK:NM_001289095 nonsynonymo PXK :exon18:c.C1648T:p. us SNV P550S PSMD6:NM_001271 780:exon4:c.G463A: p.D155N,PSMD6:NM _001271781:exon4:c nonsynonymo .G460A:p.D154N,PS PSMD6 us SNV MD6:NM_014814:ex on4:c.G577A:p.D193 N,PSMD6:NM_0012 71779:exon5:c.G736 A:p.D246N Validation Negative METMCC_862 3 121659700 121659700 C T SLC15A2:NM_00114 5998:exon21:c.C194 nonsynonymo SLC15A2 3T:p.S648F,SLC15A us SNV 2:NM_021082:exon2 2:c.C2036T:p.S679F Validation Negative METMCC_862 3 122289435 122289435 G A DTX3L Validation Negative METMCC_862 3 128205110 128205110 G T GATA2 Validation Negative METMCC_862 3 141811912 141811912 G A TFDP2 Validation Negative METMCC_862 3 148714616 148714616 G A GYG1 Validation Negative METMCC_862 3 150398675 150398675 A G ERICH6 Validation Negative METMCC_862 3 154055685 154055685 C A GPR149 DTX3L:NM_138287: nonsynonymo exon4:c.G2069A:p.G us SNV 690E GATA2:NM_001145 662:exon3:c.C331A: p.H111N,GATA2:NM nonsynonymo _032638:exon3:c.C3 us SNV 31A:p.H111N,GATA 2:NM_001145661:ex on4:c.C331A:p.H111 N TFDP2:NM_0011781 nonsynonymo 39:exon3:c.C73T:p.P us SNV 25S GYG1:NM_0011847 20:exon4:c.G406A:p. V136I,GYG1:NM_00 nonsynonymo 1184721:exon4:c.G4 us SNV 06A:p.V136I,GYG1: NM_004130:exon4:c .G406A:p.V136I ERICH6:NM_152394 nonsynonymo :exon8:c.T925C:p.Y3 us SNV 09H GPR149:NM_00103 nonsynonymo 8705:exon4:c.G1999 us SNV T:p.G667W NA 48 32% Validation Negative METMCC_862 3 160137300 160137300 C T SMC4 Validation Negative METMCC_862 3 167034834 167034834 C T ZBBX Validation Negative METMCC_862 Validation Negative METMCC_862 3 168834509 168834509 G 3 184064441 184064441 G A A SMC4:NM_005496:e xon11:c.C1826T:p.S 609F,SMC4:NM_001 nonsynonymo 002800:exon12:c.C1 NA us SNV 826T:p.S609F,SMC4 :NM_001288753:exo n12:c.C1751T:p.S58 4F ZBBX:NM_00119920 1:exon14:c.G1153A: p.E385K,ZBBX:NM_ nonsynonymo 001199202:exon14:c NA us SNV .G1066A:p.E356K,Z BBX:NM_024687:ex on14:c.G1153A:p.E3 85K NA NA 232 0 0% 169 101 37.41% NA NA 256 0 0% 300 133 30.72% NA NA 259 1 0.38% 343 181 34.54% ID=COSM1 693889;OC NA CURENCE =1(skin) NA 227 0 0% 451 232 33.97% NA NA NA 196 0 0% 182 68 27.20% NA NA NA 368 0 0% 404 230 36.28% NA NA NA 222 1 0.45% 165 87 34.52% NA NA NA 157 0 0% 306 182 37.30% NA NA NA 224 0 0% 260 146 35.96% NA NA NA 118 1 0.84% 168 84 33.33% NA NA NA 363 0 0% 305 148 32.67% 93 0 0% 88 52 37.14% MECOM MECOM:NM_00110 5078:exon7:c.C587T :p.S196F,MECOM:N M_001163999:exon7 :c.C590T:p.S197F,M ECOM:NM_0011640 00:exon7:c.C587T:p. S196F,MECOM:NM_ nonsynonymo 001205194:exon7:c. NA us SNV C587T:p.S196F,ME COM:NM_005241:ex on7:c.C587T:p.S196 F,MECOM:NM_0011 05077:exon8:c.C782 T:p.S261F,MECOM: NM_004991:exon8:c .C1151T:p.S384F CLCN2 CLCN2:NM_001171 088:exon23:c.C2518 T:p.L840F,CLCN2:N M_001171089:exon2 nonsynonymo 3:c.C2563T:p.L855F, us SNV CLCN2:NM_001171 087:exon24:c.C2599 T:p.L867F,CLCN2:N M_004366:exon24:c. C2650T:p.L884F Validation Negative METMCC_862 3 184566979 184566979 G A VPS8 nonsynonymo us SNV Validation Negative METMCC_862 3 190967834 190967834 T C OSTN nonsynonymo us SNV Validation Negative METMCC_862 3 193343893 193343893 G A OPA1 nonsynonymo us SNV Validation Negative METMCC_862 4 652750 652750 G A PDE6B nonsynonymo us SNV Validation Negative METMCC_862 4 4543570 4543570 C T STX18 nonsynonymo us SNV Validation Negative METMCC_862 4 8230120 8230120 G A SH3TC1 nonsynonymo us SNV Validation Negative METMCC_862 4 25316973 25316973 C T ZCCHC4 nonsynonymo us SNV Validation Negative METMCC_862 4 37848607 37848607 C T PGM2 nonsynonymo us SNV Validation Negative METMCC_862 4 71232700 71232700 C T SMR3A nonsynonymo us SNV Validation Negative METMCC_862 4 76522191 76522191 T C CDKL2 nonsynonymo us SNV Validation Negative METMCC_862 4 87770143 87770143 C T SLC10A6 nonsynonymo us SNV Validation Negative METMCC_862 4 88584149 88584149 G A DMP1 nonsynonymo us SNV Validation Negative METMCC_862 4 88732898 88732898 G A IBSP nonsynonymo us SNV VPS8:NM_00100992 1:exon8:c.G662A:p. G221E,VPS8:NM_01 5303:exon8:c.G656A :p.G219E OSTN:NM_198184:e xon3:c.T326C:p.V10 9A OPA1:NM_130833:e xon5:c.G529A:p.E17 7K,OPA1:NM_13083 5:exon6:c.G583A:p. E195K,OPA1:NM_13 0836:exon6:c.G637A :p.E213K,OPA1:NM_ 130837:exon7:c.G69 1A:p.E231K PDE6B:NM_001145 292:exon9:c.G574A: p.A192T,PDE6B:NM _000283:exon11:c.G 1411A:p.A471T,PDE 6B:NM_001145291:e xon11:c.G1411A:p.A 471T STX18:NM_016930: exon1:c.G122A:p.R4 1Q SH3TC1:NM_01898 6:exon12:c.G2699A: p.R900K ZCCHC4:NM_02493 6:exon3:c.C280T:p.H 94Y PGM2:NM_018290:e xon9:c.C1063T:p.L3 55F SMR3A:NM_012390: exon3:c.C394T:p.P1 32S CDKL2:NM_003948: exon9:c.A1250G:p.H 417R SLC10A6:NM_19796 5:exon1:c.G126A:p. M42I DMP1:NM_0010799 11:exon5:c.G1171A: p.E391K,DMP1:NM_ 004407:exon6:c.G12 19A:p.E407K IBSP:NM_004967:ex on7:c.G790A:p.E264 K NA 0.0002 rs148604 949 NA NA NA 374 0 0% 594 300 33.56% NA NA NA 340 0 0% 314 175 35.79% NA NA NA 215 0 0% 310 148 32.31% NA NA NA 201 1 0.50% 191 124 39.37% NA NA NA 323 0 360 215 37.39% 0% NFKB1:NM_0011654 12:exon7:c.G544T:p. G182C,NFKB1:NM_ 003998:exon7:c.G54 7T:p.G183C PLK4:NM_00119079 9:exon4:c.C908T:p.S 303F,PLK4:NM_001 190801:exon5:c.C88 1T:p.S294F,PLK4:N M_014264:exon5:c. C1004T:p.S335F RBM46:NM_144979: exon5:c.C1460T:p.S 487F GALNT7:NM_01742 3:exon3:c.G652A:p. E218K TRIO:NM_007118:ex on25:c.G4009A:p.E1 337K CDH10:NM_006727: exon3:c.G253A:p.G8 5R PDZD2:NM_178140: exon7:c.C1652A:p.S 551Y ADAMTS12:NM_030 955:exon21:c.C4238 T:p.P1413L SPEF2:NM_024867: exon35:c.G5191A:p. G1731R RANBP3L:NM_1450 00:exon14:c.C1357T :p.P453S,RANBP3L: NM_001161429:exo n15:c.C1432T:p.P47 8S CCDC152:NM_0011 34848:exon2:c.T35A :p.I12N ITGA2:NM_002203:e xon8:c.T856A:p.S28 6T ZNF366:NM_152625 :exon5:c.G2218A:p. V740M VCAN:NM_0011640 98:exon7:c.G2852A: p.G951E,VCAN:NM_ 004385:exon7:c.G28 52A:p.G951E LYSMD3:NM_19827 3:exon3:c.C560T:p.S 187L ARSK:NM_198150:e xon2:c.C230T:p.S77 F ERAP1:NM_001040 458:exon2:c.G481A: p.G161R,ERAP1:NM _001198541:exon2:c .G481A:p.G161R,ER AP1:NM_016442:exo n2:c.G481A:p.G161 R Validation Negative METMCC_862 4 103498172 103498172 G T NFKB1 nonsynonymo us SNV Validation Negative METMCC_862 4 128807529 128807529 C T PLK4 nonsynonymo us SNV Validation Negative METMCC_862 4 155749077 155749077 C T RBM46 nonsynonymo us SNV Validation Negative METMCC_862 4 174213323 174213323 G A GALNT7 nonsynonymo us SNV Validation Negative METMCC_862 5 14389458 14389458 G A TRIO nonsynonymo us SNV Validation Negative METMCC_862 5 24537762 24537762 C T CDH10 nonsynonymo us SNV Validation Negative METMCC_862 5 32048777 32048777 C A PDZD2 nonsynonymo us SNV Validation Negative METMCC_862 5 33549376 33549376 G A ADAMTS nonsynonymo 12 us SNV Validation Negative METMCC_862 5 35806989 35806989 G A SPEF2 nonsynonymo us SNV Validation Negative METMCC_862 5 36249797 36249797 G A RANBP3L nonsynonymo us SNV Validation Negative METMCC_862 5 42759258 42759258 T A CCDC152 nonsynonymo us SNV Validation Negative METMCC_862 5 52351444 52351444 T A ITGA2 nonsynonymo us SNV Validation Negative METMCC_862 5 71739600 71739600 C T ZNF366 nonsynonymo us SNV Validation Negative METMCC_862 5 82816977 82816977 G A VCAN nonsynonymo us SNV Validation Negative METMCC_862 5 89814997 89814997 G A LYSMD3 nonsynonymo us SNV Validation Negative METMCC_862 5 94901805 94901805 C T ARSK nonsynonymo us SNV Validation Negative METMCC_862 5 96139149 96139149 C T ERAP1 nonsynonymo us SNV T SLCO6A1:NM_0012 89002:exon1:c.G40A :p.E14K,SLCO6A1:N nonsynonymo SLCO6A1 M_001289004:exon1 us SNV :c.G40A:p.E14K,SLC O6A1:NM_173488:e xon1:c.G40A:p.E14K Validation Negative METMCC_862 Validation Negative METMCC_862 Validation Negative METMCC_862 Validation Negative METMCC_862 5 101834509 101834509 C 5 115783467 115783467 C 5 131309008 131309008 G 5 133914678 133914678 G T A A NA NA NA 99 1 1% 79 57 41.91% NA NA NA 235 0 0% 245 129 34.49% rs141427 057 347 2 0.57% 297 171 36.54% NA 0.0002 NA NA NA 245 0 0% 169 90 34.75% NA NA NA 263 0 0% 386 134 25.77% NA NA NA 75 0 0% 44 38 46.34% NA NA NA 35 0 0% 40 59 59.60% NA NA NA 227 1 0.44% 315 250 44.25% NA NA NA 326 0 0% 452 115 20.28% NA NA NA 180 0 0% 247 87 26.05% NA NA NA 271 0 0% 262 185 41.39% NA NA NA 262 0 0% 221 114 34.03% NA NA NA 207 2 0.96% 276 110 28.50% NA NA NA 292 0 0% 265 142 34.89% NA NA NA 297 0 0% 186 136 42.24% NA NA NA 352 1 0.28% 284 150 34.56% rs149909 757 272 0 0% 299 183 37.97% NA 302 1 0.33% 550 268 32.76% NA 0.000399 ID=COSM2 26986;OC NA CURENCE =1(skin) SEMA6A SEMA6A:NM_02079 nonsynonymo 6:exon19:c.C1935A: NA us SNV p.H645Q NA NA 100 0 0% 224 110 32.93% ACSL6 ACSL6:NM_0012052 51:exon11:c.C854T: p.P285L,ACSL6:NM _001009185:exon12: c.C1154T:p.P385L,A CSL6:NM_00120524 7:exon12:c.C1049T: nonsynonymo p.P350L,ACSL6:NM NA us SNV _001205248:exon12: c.C1079T:p.P360L,A CSL6:NM_00120525 0:exon12:c.C1112T: p.P371L,ACSL6:NM _015256:exon12:c.C 1154T:p.P385L NA NA 182 0 0% 221 102 31.58% JADE2 JADE2:NM_0012899 84:exon11:c.G2047A :p.D683N,JADE2:NM nonsynonymo _015288:exon11:c.G NA us SNV 2044A:p.D682N,JAD E2:NM_001289985:e xon12:c.G2224A:p.D 742N NA NA 246 0 0% 369 228 38.19% Validation Negative METMCC_862 5 135692886 135692886 C T Validation Negative METMCC_862 5 140183114 140183114 C T Validation Negative METMCC_862 5 140255868 140255868 G A Validation Negative METMCC_862 5 140502547 140502547 G A Validation Negative METMCC_862 5 145512483 145512483 A T Validation Negative METMCC_862 5 147207586 147207586 G A Validation Negative METMCC_862 5 147498616 147498616 G A Validation Negative METMCC_862 5 176002830 176002830 T G Validation Negative METMCC_862 6 29408283 29408283 C T Validation Negative METMCC_862 6 29556301 29556301 G A Validation Negative METMCC_862 6 37622073 37622073 T C Validation Negative METMCC_862 6 39563930 39563930 A G Validation Negative METMCC_862 6 41000800 41000800 G A TRPC7 TRPC7:NM_001167 576:exon2:c.G190A: p.E64K,TRPC7:NM_ nonsynonymo 001167577:exon2:c. NA us SNV G190A:p.E64K,TRP C7:NM_020389:exon 2:c.G190A:p.E64K NA NA 256 0 0% 497 261 34.43% NA NA 263 0 0% 356 181 33.71% NA NA 179 0 0% 232 140 37.63% NA NA 263 1 0.38% 283 132 31.81% NA NA 273 1 0.36% 410 227 35.64% NA NA 196 0 0% 289 143 33.10% NA NA 166 0 0% 211 104 33.02% NA NA 144 0 0% 85 135 61.36% NA NA 157 2 1.26% 263 117 30.79% NA NA 202 0 0% 221 135 37.92% NA NA 187 0 0% 246 139 36.10% NA NA 314 0 0% 278 142 33.81% ID=COSM1 UNC5CL:NM_17356 444453;OC nonsynonymo 1:exon4:c.C772T:p.P CURENCE NA us SNV 258S =1(large_in testine) NA 160 0 0% 172 120 41.10% PCDHA3:NM_01890 6:exon1:c.C2332T:p. nonsynonymo PCDHA3 P778S,PCDHA3:NM NA us SNV _031497:exon1:c.C2 332T:p.P778S ID=COSM2 PCDHA12:NM_0189 57674;OC 03:exon1:c.G811A:p. CURENCE nonsynonymo PCDHA12 E271K,PCDHA12:N =1(endome us SNV M_031864:exon1:c. trium),2(lar G811A:p.E271K ge_intestin e) PCDHB4:NM_01893 nonsynonymo PCDHB4 8:exon1:c.G967A:p. NA us SNV G323R LARS:NM_020117:e nonsynonymo LARS xon23:c.T2374A:p.F NA us SNV 792I SPINK1:NM_003122 nonsynonymo SPINK1 :exon4:c.C193T:p.R6 NA us SNV 5W SPINK5:NM_001127 698:exon24:c.G2308 A:p.G770R,SPINK5: nonsynonymo NM_001127699:exo SPINK5 NA us SNV n24:c.G2308A:p.G77 0R,SPINK5:NM_006 846:exon24:c.G2308 A:p.G770R CDHR2:NM_001171 976:exon11:c.T950G nonsynonymo CDHR2 :p.L317R,CDHR2:N NA us SNV M_017675:exon11:c. T950G:p.L317R OR10C1:NM_01394 nonsynonymo OR10C1 1:exon1:c.C491T:p.S NA us SNV 164F ID=COSM1 OR2H2:NM_007160: 260130;OC nonsynonymo OR2H2 exon1:c.G580A:p.E1 CURENCE us SNV 94K =1(oesoph agus) MDGA1:NM_153487 nonsynonymo MDGA1 :exon6:c.A959G:p.K NA us SNV 320R KIF6:NM_001289020 :exon7:c.T746C:p.V2 49A,KIF6:NM_00128 nonsynonymo KIF6 9021:exon7:c.T746C NA us SNV :p.V249A,KIF6:NM_1 45027:exon7:c.T746 C:p.V249A UNC5CL Validation Negative METMCC_862 6 43624347 43624347 C T RSPH9 nonsynonymo us SNV Validation Negative METMCC_862 6 75893756 75893756 G A COL12A1 nonsynonymo us SNV Validation Negative METMCC_862 6 76751687 76751687 G A IMPG1 nonsynonymo us SNV Validation Negative METMCC_862 6 87970790 87970790 G A ZNF292 nonsynonymo us SNV Validation Negative METMCC_862 6 93967211 93967211 A T EPHA7 nonsynonymo us SNV Validation Negative METMCC_862 6 112463409 112463409 G C LAMA4 nonsynonymo us SNV Validation Negative METMCC_862 6 123653030 123653030 C T TRDN nonsynonymo us SNV Validation Negative METMCC_862 6 132873998 132873998 T C TAAR8 nonsynonymo us SNV Validation Negative METMCC_862 6 143792533 143792533 C T PEX3 nonsynonymo us SNV RSPH9:NM_001193 341:exon4:c.C512T: p.S171F,RSPH9:NM _152732:exon4:c.C5 57T:p.S186F COL12A1:NM_0043 70:exon9:c.C1102T: p.L368F IMPG1:NM_001563: exon2:c.C224T:p.P7 5L ZNF292:NM_015021 :exon8:c.G7443A:p. M2481I EPHA7:NM_001288 629:exon12:c.T2126 A:p.M709K,EPHA7: NM_004440:exon12: c.T2141A:p.M714K LAMA4:NM_001105 206:exon20:c.C2579 G:p.S860C,LAMA4: NM_001105207:exo n20:c.C2558G:p.S85 3C,LAMA4:NM_0022 90:exon20:c.C2558G :p.S853C TRDN:NM_006073:e xon23:c.G1465A:p.E 489K TAAR8:NM_053278: exon1:c.T167C:p.V5 6A PEX3:NM_003630:e xon6:c.C470T:p.P15 7L NA NA NA 213 0 0% 272 159 36.89% NA NA NA 333 0 0% 326 175 34.93% NA NA NA 208 0 0% 168 106 38.69% NA NA NA 226 0 0% 254 136 34.87% NA NA NA 104 0 0% 90 36 28.57% NA NA NA 293 0 0% 344 182 34.60% NA NA NA 252 0 0% 241 138 36.41% NA NA NA 311 1 0.32% 456 257 36.04% NA NA NA 271 0 262 82 23.84% 0% Validation Negative METMCC_862 6 145142139 145142139 G A Validation Negative METMCC_862 6 151160975 151160975 G A Validation Negative METMCC_862 6 152163793 152163793 G A UTRN:NM_007124:e nonsynonymo xon65:c.G9479A:p.G NA us SNV 3160D PLEKHG1:NM_0010 nonsynonymo PLEKHG1 29884:exon17:c.G31 NA us SNV 01A:p.R1034K UTRN ESR1 NA NA 220 0 0% 163 95 36.82% NA NA 242 0 0% 234 104 30.77% NA NA 226 0 0% 203 106 34.30% ID=COSM7 7730;OCC NA URENCE= 1(ovary) NA 158 0 0% 365 188 NA NA NA 177 0 0% 120 67 35.83% NA NA NA 94 0 0% 101 56 35.67% NA NA NA 284 0 0% 372 236 38.82% NA NA NA 121 0 0% 118 51 30.18% NA NA NA 249 0 0% 344 179 34.23% NA NA NA 94 0 0% 86 53 38.13% ESR1:NM_000125:e xon2:c.G514A:p.G17 2R,ESR1:NM_00112 2740:exon3:c.G514A :p.G172R,ESR1:NM _001122741:exon3:c nonsynonymo .G514A:p.G172R,ES NA us SNV R1:NM_001291230:e xon3:c.G514A:p.G17 2R,ESR1:NM_00129 1241:exon3:c.G514A :p.G172R,ESR1:NM _001122742:exon4:c .G514A:p.G172R FRMD1:NM_001122 841:exon6:c.C478T: p.R160W,FRMD1:N M_024919:exon6:c. C682T:p.R228W DGKB:NM_004080:e xon16:c.G1424A:p.G 475E,DGKB:NM_145 695:exon16:c.G1424 A:p.G475E ANKMY2:NM_02031 9:exon7:c.A785G:p. Y262C OSBPL3:NM_14532 2:exon12:c.A1320T: p.E440D,OSBPL3:N M_145320:exon13:c. A1428T:p.E476D,OS BPL3:NM_145321:ex on13:c.A1413T:p.E4 71D,OSBPL3:NM_01 5550:exon15:c.A152 1T:p.E507D GGCT:NM_0011998 17:exon2:c.C280T:p. L94F,GGCT:NM_024 051:exon4:c.C562T: p.L188F NME8:NM_016616:e xon14:c.G1211A:p.R 404K RALA:NM_005402:e xon4:c.C362T:p.P12 1L NPC1L1:NM_001101 648:exon9:c.C2513T :p.P838L,NPC1L1:N M_013389:exon9:c. C2513T:p.P838L Validation Negative METMCC_862 6 168464403 168464403 G A FRMD1 nonsynonymo us SNV Validation Negative METMCC_862 7 14647071 14647071 C T DGKB nonsynonymo us SNV Validation Negative METMCC_862 7 16649352 16649352 T C ANKMY2 nonsynonymo us SNV Validation Negative METMCC_862 7 24874330 24874330 T A OSBPL3 nonsynonymo us SNV Validation Negative METMCC_862 7 30536713 30536713 G A GGCT nonsynonymo us SNV Validation Negative METMCC_862 7 37924818 37924818 G A NME8 nonsynonymo us SNV Validation Negative METMCC_862 7 39736322 39736322 C T RALA nonsynonymo us SNV Validation Negative METMCC_862 7 44571713 44571713 G A NPC1L1 nonsynonymo us SNV NA NA NA 183 0 0% 272 164 37.61% CD36 CD36:NM_00128990 8:exon6:c.C725T:p.S 242F,CD36:NM_001 127444:exon8:c.C84 2T:p.S281F,CD36:N M_001289909:exon8 :c.C662T:p.S221F,C D36:NM_001289911: exon8:c.C614T:p.S2 nonsynonymo 05F,CD36:NM_0011 NA us SNV 27443:exon9:c.C842 T:p.S281F,CD36:NM _000072:exon10:c.C 842T:p.S281F,CD36: NM_001001547:exo n10:c.C842T:p.S281 F,CD36:NM_001001 548:exon10:c.C842T :p.S281F NA NA 322 0 0% 295 151 33.86% NA NA 132 0 0% 163 77 32.08% NA NA 213 0 0% 159 72 31.17% TRRAP TRRAP:NM_001244 580:exon26:c.C3779 nonsynonymo T:p.A1260V,TRRAP: NA us SNV NM_003496:exon26: c.C3779T:p.A1260V NA NA 151 0 0% 146 71 32.72% CYP3A4 CYP3A4:NM_00120 2855:exon11:c.C118 nonsynonymo 7T:p.P396L,CYP3A4 NA us SNV :NM_017460:exon11 :c.C1190T:p.P397L NA NA 272 0 0% 289 127 30.53% ASZ1 ASZ1:NM_130768:e nonsynonymo xon6:c.C682T:p.H22 NA us SNV 8Y NA NA 90 0 0% 95 52 35.37% Validation Negative METMCC_862 7 80300316 80300316 C T Validation Negative METMCC_862 7 84670020 84670020 G A Validation Negative METMCC_862 7 95125267 95125267 C T Validation Negative METMCC_862 Validation Negative METMCC_862 Validation Negative METMCC_862 7 7 98529215 99359727 98529215 C 99359727 G 7 117024785 117024785 G T A A SEMA3D:NM_15275 nonsynonymo SEMA3D 4:exon9:c.C1015T:p. NA us SNV P339S ASB4:NM_016116:e xon2:c.C385T:p.R12 nonsynonymo ASB4 9C,ASB4:NM_14587 NA us SNV 2:exon2:c.C385T:p.R 129C 34% Validation Negative METMCC_862 7 117431449 117431449 C T CTTNBP2 Validation Negative METMCC_862 7 119915794 119915794 A G KCND2 Validation Negative METMCC_862 7 128484187 128484187 G A FLNC Validation Negative METMCC_862 7 142561931 142561931 C T EPHB6 Validation Negative METMCC_862 7 143048948 143048948 G A CLCN1 Validation Negative METMCC_862 7 150069004 150069004 C T Validation Negative METMCC_862 8 12879080 12879080 G A Validation Negative METMCC_862 8 30941284 30941284 G A Validation Negative METMCC_862 8 63659579 63659579 C T Validation Negative METMCC_862 8 69031690 T 1 1.19% 125 65 34.21% NA NA 143 2 1.38% 231 121 34.38% ID=COSM3 EPHB6:NM_004445: nonsynonymo 662992;OC exon4:c.C373T:p.R1 NA us SNV CURENCE 25W =2(liver) NA 152 0 0% 277 166 37.47% NA NA NA 167 0 0% 353 164 31.72% NA NA NA 247 0 0% 106 165 60.89% NA NA NA 83 1 1.19% 39 49 55.68% NA NA NA 245 2 0.81% 386 127 24.76% rs371787 029 220 0 0% 363 137 27.40% NA NA 263 0 0% 531 182 25.53% NA NA 172 0 0% 252 92 26.74% NA NA 208 0 0% 286 98 25.52% NA NA 385 0 0% 582 244 29.54% NA NA 166 0 0% 163 55 25.23% NA NA 156 0 0% 353 126 26.30% NA NA 130 0 0% 337 108 24.27% NA NA 226 0 0% 460 146 24.09% NA NA 111 0 0% 264 86 24.57% RFX3 RFX3:NM_002919:e xon6:c.C790T:p.R26 4C,RFX3:NM_00128 2116:exon7:c.C790T nonsynonymo :p.R264C,RFX3:NM_ NA us SNV 001282117:exon8:c. C790T:p.R264C,RFX 3:NM_134428:exon8 :c.C790T:p.R264C NA NA 286 0 0% 222 118 34.71% RLN2 RLN2:NM_005059:e nonsynonymo xon1:c.C5T:p.P2L,R NA us SNV LN2:NM_134441:exo n1:c.C5T:p.P2L NA NA 305 0 0% 277 189 40.56% PREX2 Validation Negative METMCC_862 8 113563077 113563077 C T CSMD3 Validation Negative METMCC_862 8 113988258 113988258 C T CSMD3 Validation Negative METMCC_862 8 124701114 124701114 G T ANXA13 Validation Negative METMCC_862 8 144124642 144124642 C T C8orf31 Validation Negative METMCC_862 8 144812541 144812541 G A FAM83H Validation Negative METMCC_862 8 145051839 145051839 G A PARP10 Validation Negative METMCC_862 8 145096216 145096216 G A SPATC1 A 83 97 34.77% CSMD3 5304576 G NA 182 G 5304576 162 33.47% 0% 8 113348917 113348917 A 9 322 0 Validation Negative METMCC_862 Validation Negative METMCC_862 0% 136 JPH1 A NA 0 NA A 3288192 G 290 NA 75156894 G 3288192 NA NA 8 9 NA CLCN1:NM_000083: nonsynonymo exon23:c.G2857A:p. us SNV E953K REPIN1:NM_014374 :exon1:c.C674T:p.P2 25L,REPIN1:NM_00 1099696:exon2:c.C6 nonsynonymo 74T:p.P225L,REPIN REPIN1 us SNV 1:NM_001099695:ex on3:c.C845T:p.P282 L,REPIN1:NM_0134 00:exon4:c.C674T:p. P225L KIAA1456:NM_0010 99677:exon2:c.G514 nonsynonymo KIAA1456 A:p.E172K,KIAA145 us SNV 6:NM_020844:exon5 :c.G892A:p.E298K WRN:NM_000553:ex nonsynonymo WRN on10:c.G1339A:p.E4 us SNV 47K NKAIN3:NM_173688 nonsynonymo NKAIN3 :exon4:c.C362T:p.P1 us SNV 21L Validation Negative METMCC_862 Validation Negative METMCC_862 75156894 69031690 C CTTNBP2:NM_0334 nonsynonymo 27:exon4:c.G1801A: NA us SNV p.E601K KCND2:NM_012281: nonsynonymo exon1:c.A1108G:p.T NA us SNV 370A FLNC:NM_00112748 7:exon20:c.G3059A: nonsynonymo p.G1020E,FLNC:NM NA us SNV _001458:exon20:c.G 3059A:p.G1020E ID=COSM1 PREX2:NM_024870: 458002;OC nonsynonymo exon28:c.C3445T:p. CURENCE NA us SNV R1149C =1(large_in testine) ID=COSM7 JPH1:NM_020647:ex nonsynonymo 1238;OCC on4:c.C1775T:p.S59 us SNV URENCE= 2F 1(ovary) CSMD3:NM_052900: exon43:c.T6671C:p. L2224P,CSMD3:NM nonsynonymo _198123:exon44:c.T NA us SNV 6983C:p.L2328P,CS MD3:NM_198124:ex on45:c.T6863C:p.L2 288P CSMD3:NM_052900: exon26:c.G4075A:p. E1359K,CSMD3:NM nonsynonymo _198123:exon27:c.G NA us SNV 4387A:p.E1463K,CS MD3:NM_198124:ex on28:c.G4267A:p.E1 423K CSMD3:NM_198123: exon7:c.G1150A:p.A nonsynonymo 384T,CSMD3:NM_1 NA us SNV 98124:exon8:c.G103 0A:p.A344T ANXA13:NM_00430 6:exon9:c.C715A:p.L nonsynonymo 239I,ANXA13:NM_0 NA us SNV 01003954:exon10:c. C838A:p.L280I C8orf31:NM_173687 nonsynonymo :exon3:c.C149T:p.P5 NA us SNV 0L FAM83H:NM_19848 nonsynonymo 8:exon2:c.C212T:p.P NA us SNV 71L PARP10:NM_03278 nonsynonymo 9:exon11:c.C2891T: NA us SNV p.P964L SPATC1:NM_19857 nonsynonymo 2:exon4:c.G1390A:p. NA us SNV E464K Validation Negative METMCC_862 9 26997840 26997840 C T Validation Negative METMCC_862 9 34290379 34290379 G A Validation Negative METMCC_862 9 35662690 35662690 C T Validation Negative METMCC_862 9 35674266 35674266 G A Validation Negative METMCC_862 9 77377070 77377070 G A Validation Negative METMCC_862 9 100203988 100203988 C T LRRC19:NM_02290 nonsynonymo 1:exon3:c.G481A:p. us SNV D161N KIF24:NM_194313:e nonsynonymo KIF24 xon5:c.C920T:p.A30 us SNV 7V ARHGEF39:NM_032 ARHGEF3 nonsynonymo 818:exon7:c.G722A: 9 us SNV p.G241E CA9:NM_001216:ex nonsynonymo CA9 on1:c.G310A:p.E104 us SNV K TRPM6:NM_001177 310:exon26:c.C4502 T:p.S1501L,TRPM6: nonsynonymo NM_001177311:exo TRPM6 us SNV n26:c.C4502T:p.S15 01L,TRPM6:NM_017 662:exon26:c.C4517 T:p.S1506L TDRD7:NM_014290: nonsynonymo TDRD7 exon6:c.C686T:p.S2 us SNV 29F LRRC19 Validation Negative METMCC_862 9 111911977 111911977 G A FRRS1L Validation Negative METMCC_862 9 123858774 123858774 C T CNTRL Validation Negative METMCC_862 9 139276378 139276378 G A SNAPC4 Validation Negative METMCC_862 9 139874691 139874691 G C PTGDS Validation Negative METMCC_862 9 140034102 140034102 C T GRIN1 NA NA NA 255 223 107 32.42% NA NA NA 60 0 0% 51 29 36.25% NA NA NA 89 1 1.11% 64 53 45.30% NA NA NA 184 0 0% 220 157 41.64% NA NA NA 345 1 0.29% 502 279 35.72% NA NA NA 156 2 1.27% 101 48 32.21% ID=COSM1 FRRS1L:NM_01433 nonsynonymo 701504;OC 4:exon2:c.C415T:p.P NA us SNV CURENCE 139S =1(skin) NA 258 0 0% 192 118 38.06% NA NA 175 0 0% 132 61 31.61% NA NA 61 0 0% 82 39 32.23% NA NA 124 0 0% 185 102 35.54% NA NA 150 0 0% 265 149 35.99% NA NA NA 164 0 0% 355 165 31.73% NA NA NA 64 0 0% 66 46 41.07% NA NA rs148398 883 165 0 0% 174 80 31.50% NA CNTRL:NM_007018: nonsynonymo exon4:c.C554T:p.P1 NA us SNV 85L SNAPC4:NM_00308 nonsynonymo 6:exon17:c.C2215T: NA us SNV p.L739F PTGDS:NM_000954: nonsynonymo exon5:c.G505C:p.A1 NA us SNV 69P GRIN1:NM_000832: exon1:c.C164T:p.S5 5F,GRIN1:NM_0011 85090:exon1:c.C164 T:p.S55F,GRIN1:NM nonsynonymo _001185091:exon1:c NA us SNV .C164T:p.S55F,GRI N1:NM_007327:exon 1:c.C164T:p.S55F,G RIN1:NM_021569:ex on1:c.C164T:p.S55F SFMBT2:NM_00101 8039:exon19:c.G215 6A:p.S719N,SFMBT 2:NM_001029880:ex on19:c.G2156A:p.S7 19N NMT2:NM_004808:e xon3:c.C250T:p.P84 S PTCHD3:NM_00103 4842:exon4:c.T2296 G:p.L766V ARMC4:NM_001290 020:exon5:c.G597A: p.M199I,ARMC4:NM _018076:exon5:c.G5 97A:p.M199I 2 0.78% Validation Negative METMCC_862 10 7214116 7214116 C T SFMBT2 nonsynonymo us SNV Validation Negative METMCC_862 10 15177414 15177414 G A NMT2 nonsynonymo us SNV Validation Negative METMCC_862 10 27687231 27687231 A C PTCHD3 nonsynonymo us SNV Validation Negative METMCC_862 10 28273198 28273198 C T ARMC4 nonsynonymo us SNV NA NA 197 0 0% 221 111 33.43% A ID=COSM1 C10orf53:NM_18255 nonsynonymo 702363;OC C10orf53 4:exon3:c.G448A:p. NA us SNV CURENCE E150K =1(skin) NA 247 0 0% 389 203 34.29% Validation Negative METMCC_862 10 50916637 50916637 G Validation Negative METMCC_862 10 55582315 55582315 A T PCDH15 nonsynonymo us SNV Validation Negative METMCC_862 10 75532125 75532125 C T FUT11 nonsynonymo us SNV Validation Negative METMCC_862 10 91200877 91200877 C T SLC16A1 nonsynonymo 2 us SNV Validation Negative METMCC_862 10 95381822 95381822 A G PDE6C nonsynonymo us SNV PCDH15:NM_00114 2767:exon31:c.T505 1A:p.I1684N,PCDH1 5:NM_001142765:ex on32:c.T4964A:p.I16 55N,PCDH15:NM_0 01142766:exon32:c. T5162A:p.I1721N,P CDH15:NM_001142 773:exon32:c.T5102 A:p.I1701N,PCDH15: NM_001142768:exo n33:c.T5111A:p.I170 4N,PCDH15:NM_03 3056:exon33:c.T517 1A:p.I1724N,PCDH1 5:NM_001142764:ex on34:c.T5177A:p.I17 26N,PCDH15:NM_0 01142763:exon35:c. T5192A:p.I1731N FUT11:NM_0012841 94:exon1:c.C34T:p.L 12F,FUT11:NM_173 540:exon1:c.C34T:p. L12F SLC16A12:NM_2136 06:exon5:c.G436A:p. G146R PDE6C:NM_006204: exon4:c.A857G:p.K2 86R NA NA NA 195 2 1.02% 213 96 31.07% NA NA NA 297 0 0% 290 182 38.56% NA NA NA 78 0 0% 39 34 46.58% NA NA NA 216 0 0% 244 134 35.45% Validation Negative METMCC_862 10 98411065 98411065 G A PIK3AP1 Validation Negative METMCC_862 10 101715720 101715720 C T DNMBP Validation Negative METMCC_862 11 614937 614937 G A IRF7 Validation Negative METMCC_862 11 1269274 1269274 C T MUC5B Validation Negative METMCC_862 11 1776193 1776193 C A CTSD Validation Negative METMCC_862 11 3380692 3380692 G A ZNF195 Validation Negative METMCC_862 11 4661207 4661207 C T OR51D1 Validation Negative METMCC_862 11 5602891 5602891 C T OR52B6 Validation Negative METMCC_862 11 6411941 6411941 C T SMPD1 Validation Negative METMCC_862 11 16340165 16340165 G A SOX6 PIK3AP1:NM_15230 nonsynonymo 9:exon6:c.C928T:p.P us SNV 310S DNMBP:NM_015221 nonsynonymo :exon4:c.G1511A:p. us SNV S504N IRF7:NM_004031:ex on2:c.C293T:p.T98I,I nonsynonymo RF7:NM_001572:exo us SNV n4:c.C254T:p.T85I,I RF7:NM_004029:exo n4:c.C254T:p.T85I MUC5B:NM_002458: nonsynonymo exon31:c.C11164T:p us SNV .L3722F CTSD:NM_001909:e nonsynonymo xon6:c.G770T:p.G25 us SNV 7V NA NA NA 142 0 0% 57 92 61.74% NA NA NA 234 0 0% 104 172 62.32% NA NA NA 175 0 0% 337 160 32.19% NA NA NA 23 0 0% 39 NA NA NA 155 0 0% 190 88 31.65% ZNF195:NM_007152 :exon4:c.C1330T:p.H 444Y,ZNF195:NM_0 01130519:exon5:c.C 1477T:p.H493Y,ZNF 195:NM_001242843: exon5:c.C1342T:p.H 448Y,ZNF195:NM_0 01256825:exon5:c.C nonsynonymo 1342T:p.H448Y,ZNF NA us SNV 195:NM_001130520: exon6:c.C1546T:p.H 516Y,ZNF195:NM_0 01242841:exon6:c.C 1489T:p.H497Y,ZNF 195:NM_001242842: exon6:c.C1411T:p.H 471Y,ZNF195:NM_0 01256824:exon6:c.C 1435T:p.H479Y NA NA 141 0 0% 133 74 35.75% NA rs375185 822 319 0 0% 554 307 35.66% NA NA 329 0 0% 434 239 35.51% NA rs782500 81 131 0 0% 264 11 NA NA 181 0 0% 179 90 33.46% NA NA NA 240 0 0% 482 234 32.68% NA NA NA 226 0 0% 395 188 32.25% NA NA NA 245 0 0% 187 98 34.39% NA NA NA 131 2 1.50% 152 87 36.40% CD44:NM_00100139 0:exon7:c.T790C:p.F 264L,CD44:NM_001 nonsynonymo 001389:exon12:c.T1 NA us SNV 408C:p.F470L,CD44: NM_000610:exon13: c.T1537C:p.F513L NA NA 234 2 0.85% 170 113 39.93% NA NA 291 1 0.34% 286 170 37.28% NA NA 131 0 119 70 37.04% OR51D1:NM_00100 nonsynonymo 4751:exon1:c.C187T NA us SNV :p.R63C OR52B6:NM_00100 nonsynonymo 5162:exon1:c.C785T NA us SNV :p.S262F SMPD1:NM_000543: exon1:c.C113T:p.A3 nonsynonymo 8V,SMPD1:NM_001 NA us SNV 007593:exon1:c.C11 3T:p.A38V SOX6:NM_00114581 1:exon3:c.C272T:p.S 91F,SOX6:NM_0011 45819:exon3:c.C311 nonsynonymo T:p.S104F,SOX6:NM NA us SNV _017508:exon3:c.C2 81T:p.S94F,SOX6:N M_033326:exon3:c. C272T:p.S91F Validation Negative METMCC_862 11 17631775 17631775 C T OTOG nonsynonymo us SNV Validation Negative METMCC_862 11 30033085 30033085 A C KCNA4 nonsynonymo us SNV Validation Negative METMCC_862 11 30921132 30921132 A G DCDC5 nonsynonymo us SNV Validation Negative METMCC_862 11 33604955 33604955 G A KIAA1549 nonsynonymo L us SNV Validation Negative METMCC_862 11 35231532 35231532 T C CD44 Validation Negative METMCC_862 11 55371744 55371744 T C OR4C11 Validation Negative METMCC_862 11 57413471 57413471 C T YPEL4 OTOG:NM_0012772 69:exon35:c.C4964T :p.P1655L,OTOG:N M_001292063:exon3 6:c.C4928T:p.P1643 L KCNA4:NM_002233: exon2:c.T1141G:p. W381G DCDC5:NM_020869: exon15:c.T2033C:p. L678S KIAA1549L:NM_012 194:exon10:c.G3583 A:p.V1195I OR4C11:NM_00100 nonsynonymo 4700:exon1:c.A106G NA us SNV :p.T36A YPEL4:NM_145008: nonsynonymo exon5:c.G367A:p.D1 NA us SNV 23N 0% 26 40% 4% Validation Negative METMCC_862 11 57569638 57569638 C T CTNND1 nonsynonymo us SNV Validation Negative METMCC_862 11 59211432 59211432 G A OR5A1 nonsynonymo us SNV Validation Negative METMCC_862 11 59811038 59811038 G A OOSP2 nonsynonymo us SNV Validation Negative METMCC_862 11 60476220 60476220 C T MS4A8 nonsynonymo us SNV Validation Negative METMCC_862 11 61109360 61109360 G C DAK nonsynonymo us SNV Validation Negative METMCC_862 11 66062592 66062592 C T TMEM151 nonsynonymo A us SNV Validation Negative METMCC_862 11 71260005 71260005 G A KRTAP5- nonsynonymo 9 us SNV Validation Negative METMCC_862 11 74460155 74460155 A T RNF169 nonsynonymo us SNV Validation Negative METMCC_862 11 89891378 89891378 G A NAALAD2 nonsynonymo us SNV Validation Negative METMCC_862 11 102562601 102562601 C T MMP27 nonsynonymo us SNV Validation Negative METMCC_862 11 113934027 113934027 A G ZBTB16 nonsynonymo us SNV Validation Negative METMCC_862 11 118498276 118498276 C T PHLDB1 nonsynonymo us SNV Validation Negative METMCC_862 11 118765230 118765230 G A CXCR5 nonsynonymo us SNV Validation Negative METMCC_862 11 121424754 121424754 C T SORL1 nonsynonymo us SNV Validation Negative METMCC_862 11 124135143 124135143 G A OR8G5 nonsynonymo us SNV Validation Negative METMCC_862 11 124310861 124310861 C T OR8B8 nonsynonymo us SNV Validation Negative METMCC_862 12 T CACNA1 C nonsynonymo us SNV 2613700 2613700 G CTNND1:NM_00108 5469:exon4:c.C1087 T:p.R363C,CTNND1: NM_001085463:exo n5:c.C1087T:p.R363 C,CTNND1:NM_001 085464:exon5:c.C10 87T:p.R363C,CTNN D1:NM_001085465:e xon5:c.C1087T:p.R3 63C,CTNND1:NM_0 01085466:exon5:c.C 1087T:p.R363C,CTN ND1:NM_001085467 :exon5:c.C1087T:p.R 363C,CTNND1:NM_ 001085468:exon5:c. C1087T:p.R363C,CT NND1:NM_0012068 90:exon5:c.C1087T: p.R363C,CTNND1:N M_001085462:exon6 :c.C1390T:p.R464C, CTNND1:NM_00120 6883:exon6:c.C1228 T:p.R410C,CTNND1: NM_001206884:exo n6:c.C1228T:p.R410 C,CTNND1:NM 001 OR5A1:NM_001004 728:exon1:c.G791A: p.R264Q OOSP2:NM_173801: exon2:c.G161A:p.G5 4E MS4A8:NM_031457: exon5:c.C500T:p.A1 67V DAK:NM_015533:ex on7:c.G631C:p.A211 P TMEM151A:NM_153 266:exon2:c.C875T: p.S292L KRTAP59:NM_005553:exon1 :c.G302A:p.C101Y RNF169:NM_001098 638:exon1:c.A230T: p.E77V NAALAD2:NM_0054 67:exon7:c.G862A:p. G288R MMP27:NM_022122: exon10:c.G1438A:p. E480K ZBTB16:NM_001018 011:exon2:c.A5G:p. D2G,ZBTB16:NM_00 6006:exon2:c.A5G:p. D2G PHLDB1:NM_00114 4758:exon6:c.C737T :p.S246F,PHLDB1:N M_001144759:exon6 :c.C737T:p.S246F,P HLDB1:NM_015157: exon7:c.C737T:p.S2 46F CXCR5:NM_032966: exon1:c.G842A:p.G2 81D,CXCR5:NM_001 716:exon2:c.G977A: p.G326D SORL1:NM_003105: exon17:c.C2375T:p. A792V OR8G5:NM_001005 198:exon1:c.G421A: p.V141I OR8B8:NM_012378: exon1:c.G121A:p.G4 1R CACNA1C:NM_0011 29840:exon8:c.G121 2T:p.L404F,CACNA1 C:NM_001167623:ex on8:c.G1212T:p.L40 4F,CACNA1C:NM_0 01167624:exon8:c.G 1212T:p.L404F,CAC NA1C:NM_00116762 5:exon8:c.G1212T:p. L404F NA 0.008387 rs115701 99 298 0 0% 301 152 33.55% NA NA NA 317 0 0% 401 198 33.06% NA NA NA 153 0 0% 142 89 38.53% NA NA NA 227 0 0% 240 140 36.84% NA NA NA 169 2 1.17% 240 106 30.64% NA NA NA 150 0 0% 362 198 35.36% NA NA NA 16 0 0% 18 17 48.57% NA NA NA 79 0 0% 116 69 37.30% NA NA NA 236 0 0% 259 143 35.57% NA NA NA 217 0 0% 156 83 34.73% NA NA NA 174 0 0% 321 22 NA NA NA 165 0 0% 278 134 32.52% NA NA NA 297 0 0% 414 270 39.47% NA NA NA 157 1 0.63% 182 106 36.81% rs200012 972 139 0 0% 148 85 36.48% NA 0.005391 6.41% NA NA NA 297 0 0% 433 260 37.52% NA NA NA 173 0 0% 208 104 33.33% Validation Negative METMCC_862 12 6669444 6669444 C G NOP2 NOP2:NM_0010337 14:exon15:c.G1597C :p.V533L,NOP2:NM_ 001258308:exon15:c .G1609C:p.V537L,N nonsynonymo OP2:NM_001258310 NA us SNV :exon15:c.G1597C:p. V533L,NOP2:NM_00 6170:exon15:c.G159 7C:p.V533L,NOP2:N M_001258309:exon1 6:c.G1708C:p.V570L NOP2:NM_0010337 14:exon9:c.C922T:p. L308F,NOP2:NM_00 1258308:exon9:c.C9 34T:p.L312F,NOP2: NM_001258310:exo n9:c.C922T:p.L308F, NOP2:NM_006170:e xon9:c.C922T:p.L30 8F,NOP2:NM_00125 8309:exon10:c.C103 3T:p.L345F PRB2:NM_006248:e xon3:c.G682A:p.G22 8R STRAP:NM_007178: exon4:c.G400T:p.A1 34S KMT2D:NM_003482: exon10:c.C1465A:p. L489M NA NA 280 0 0% 407 195 32.39% NA NA NA 120 0 0% 126 82 39.42% NA NA NA 37 0 0% 26 20 43.48% NA NA NA 176 1 0.56% 130 92 41.44% NA Validation Negative METMCC_862 12 6672291 6672291 G A NOP2 nonsynonymo us SNV Validation Negative METMCC_862 12 11546330 11546330 C T PRB2 nonsynonymo us SNV Validation Negative METMCC_862 12 16043600 16043600 G T STRAP nonsynonymo us SNV Validation Negative METMCC_862 12 49446001 49446001 G T KMT2D nonsynonymo us SNV NA NA 203 0 0% 278 151 35.20% ID=COSM1 HOXC8:NM_022658: nonsynonymo 39960;OC exon2:c.C514T:p.P1 NA us SNV CURENCE 72S =1(skin) NA 136 0 0% 165 86 34.26% Validation Negative METMCC_862 12 54404950 54404950 C T HOXC8 Validation Negative METMCC_862 12 54427111 54427111 G A HOXC5 Validation Negative METMCC_862 12 57554749 57554749 G A LRP1 Validation Negative METMCC_862 12 57573711 57573711 C T LRP1 Validation Negative METMCC_862 12 80729822 80729822 T C OTOGL Validation Negative METMCC_862 12 101705850 101705850 C T UTP20 Validation Negative METMCC_862 12 102591515 102591515 T A PMCH Validation Negative METMCC_862 12 121001305 121001305 G T RNF10 Validation Negative METMCC_862 12 121416746 121416746 G A HNF1A Validation Negative METMCC_862 12 122717499 122717499 G A VPS33A Validation Negative METMCC_862 12 123214430 123214430 C T HCAR1 Validation Negative METMCC_862 12 132445541 132445541 C T EP400 Validation Negative METMCC_862 Validation Negative METMCC_862 12 133586925 133586925 C 13 23909874 23909874 G T A ZNF26 SACS HOXC5:NM_018953: nonsynonymo exon1:c.G205A:p.A6 us SNV 9T LRP1:NM_002332:e nonsynonymo xon13:c.G2053A:p.D us SNV 685N LRP1:NM_002332:e nonsynonymo xon30:c.C5113T:p.H us SNV 1705Y OTOGL:NM_173591 nonsynonymo :exon38:c.T4475C:p. us SNV L1492P NA NA rs369572 312 139 0 0% 221 152 40.75% NA NA NA 199 0 0% 258 155 37.53% NA NA NA 176 0 0% 380 168 30.66% NA NA NA 210 0 0% 169 89 34.50% ID=COSM1 UTP20:NM_014503: nonsynonymo 706100;OC exon21:c.C2348T:p. NA us SNV CURENCE S783F =1(skin) NA 298 0 0% 292 144 33.03% NA NA 195 0 0% 206 89 30.17% NA NA 204 0 0% 216 119 35.52% NA NA 82 0 0% 95 58 37.91% NA NA 164 0 0% 132 73 35.61% NA NA 157 0 0% 247 115 31.77% NA NA 31 0 0% 46 23 33.33% NA NA 209 0 0% 260 144 35.64% ID=COSM1 365903,CO SM136590 4;OCCUR NA ENCE=1(la rge_intesti ne),1(panc reas) NA 204 0 0% 167 80 32.39% NA NA rs377626 385 186 1 0.53% 173 97 35.93% NA NA NA 177 0 0% 196 86 30.50% NA NA NA 309 0 0% 434 232 34.83% NA NA NA 219 0 0% 133 73 35.44% nonsynonymo PMCH:NM_002674:e NA us SNV xon1:c.A34T:p.I12L RNF10:NM_014868: nonsynonymo exon9:c.G1410T:p.L NA us SNV 470F HNF1A:NM_000545: nonsynonymo exon1:c.G175A:p.E5 NA us SNV 9K VPS33A:NM_022916 nonsynonymo :exon12:c.C1457T:p. NA us SNV S486L HCAR1:NM_032554: nonsynonymo exon1:c.G457A:p.E1 NA us SNV 53K EP400:NM_015409: nonsynonymo exon2:c.C377T:p.P1 NA us SNV 26L ZNF26:NM_0012562 80:exon3:c.C364T:p. H122Y,ZNF26:NM_0 nonsynonymo 19591:exon4:c.C460 NA us SNV T:p.H154Y,ZNF26:N M_001256279:exon5 :c.C559T:p.H187Y SACS:NM_0012780 55:exon8:c.C7700T: nonsynonymo p.S2567L,SACS:NM us SNV _014363:exon10:c.C 8141T:p.S2714L Validation Negative METMCC_862 13 23910027 23910027 G A SACS nonsynonymo us SNV Validation Negative METMCC_862 13 31495939 31495939 G A MEDAG nonsynonymo us SNV Validation Negative METMCC_862 13 33110855 33110855 C T N4BP2L2 nonsynonymo us SNV Validation Negative METMCC_862 13 33332768 33332768 C T PDS5B nonsynonymo us SNV SACS:NM_0012780 55:exon8:c.C7547T: p.P2516L,SACS:NM _014363:exon10:c.C 7988T:p.P2663L MEDAG:NM_032849 :exon4:c.G743A:p.R 248Q N4BP2L2:NM_01488 7:exon2:c.G310A:p. E104K PDS5B:NM_015032: exon28:c.C3286T:p. R1096C Validation Negative METMCC_862 13 42729815 42729815 A G DGKH nonsynonymo us SNV Validation Negative METMCC_862 13 45580401 45580401 C T GPALPP1 nonsynonymo us SNV Validation Negative METMCC_862 13 101777004 101777004 G T NALCN nonsynonymo us SNV Validation Negative METMCC_862 14 21052348 21052348 C T RNASE11 nonsynonymo us SNV Validation Negative METMCC_862 14 24800454 24800454 T C ADCY4 nonsynonymo us SNV Validation Negative METMCC_862 14 45658036 45658036 A G FANCM nonsynonymo us SNV NA NA NA 355 1 0.28% 353 180 33.77% NA NA NA 373 0 0% 509 318 38.45% NA NA NA 242 0 0% 258 103 28.53% NA NA NA 264 0 0% 257 158 38.07% NA NA NA 240 0 0% 266 163 NA NA NA 114 0 0% 81 38 31.93% MDGA2:NM_001113 498:exon11:c.G2147 nonsynonymo A:p.R716Q,MDGA2: NA us SNV NM_182830:exon11: c.G1460A:p.R487Q NA NA 214 0 0% 250 100 28.57% NA NA 218 0 0% 177 62 25.94% NA NA 108 0 0% 137 85 38.29% NA NA 157 0 0% 156 91 36.84% A ZC2HC1C:NM_0010 42430:exon2:c.G311 nonsynonymo ZC2HC1C A:p.G104E,ZC2HC1 NA us SNV C:NM_024643:exon2 :c.G311A:p.G104E NA NA 220 2 0.90% 244 131 34.93% NA NA 214 0 0% 354 183 34.08% Validation Negative METMCC_862 14 47351309 47351309 C T MDGA2 Validation Negative METMCC_862 14 50218422 50218422 C T KLHDC1 Validation Negative METMCC_862 14 68038578 68038578 G A Validation Negative METMCC_862 14 72932523 72932523 A T Validation Negative METMCC_862 14 75537587 75537587 G DGKH:NM_0012045 05:exon3:c.A94G:p. N32D,DGKH:NM_00 1204506:exon3:c.A9 4G:p.N32D,DGKH:N M_152910:exon5:c.A 502G:p.N168D,DGK H:NM_178009:exon5 :c.A502G:p.N168D,D GKH:NM_00120450 4:exon6:c.A502G:p. N168D GPALPP1:NM_0185 59:exon3:c.C286T:p. P96S NALCN:NM_052867: exon18:c.C2147A:p. A716E RNASE11:NM_1452 50:exon3:c.G286A:p. E96K ADCY4:NM_001198 568:exon5:c.A778G: p.N260D,ADCY4:NM _001198592:exon6:c .A778G:p.N260D,AD CY4:NM_139247:ex on6:c.A778G:p.N260 D FANCM:NM_020937 :exon20:c.A4811G:p. D1604G KLHDC1:NM_17219 nonsynonymo 3:exon13:c.C1153T: NA us SNV p.H385Y PLEKHH1:NM_0207 nonsynonymo PLEKHH1 15:exon10:c.G1544A NA us SNV :p.R515K RGS6:NM_0012044 23:exon6:c.A347T:p. Y116F,RGS6:NM_00 1204416:exon7:c.A4 52T:p.Y151F,RGS6: NM_001204417:exo n7:c.A452T:p.Y151F ,RGS6:NM_0012044 18:exon7:c.A452T:p. Y151F,RGS6:NM_00 1204419:exon7:c.A4 nonsynonymo 52T:p.Y151F,RGS6: RGS6 NA us SNV NM_001204420:exo n7:c.A452T:p.Y151F ,RGS6:NM_0012044 21:exon7:c.A452T:p. Y151F,RGS6:NM_00 1204422:exon7:c.A4 52T:p.Y151F,RGS6: NM_001204424:exo n7:c.A452T:p.Y151F ,RGS6:NM_004296: exon7:c.A452T:p.Y1 51F 38% Validation Negative METMCC_862 14 94417413 94417413 C T ASB2 ASB2:NM_016150:e xon4:c.G668A:p.G22 nonsynonymo 3D,ASB2:NM_00120 NA us SNV 2429:exon6:c.G812A :p.G271D Validation Negative METMCC_862 14 94503766 94503766 T A OTUB2 nonsynonymo OTUB2:NM_023112: NA us SNV exon2:c.T44A:p.I15N NA NA 160 0 0% 184 84 31.34% Validation Negative METMCC_862 14 101350227 101350227 G A RTL1 RTL1:NM_00113488 nonsynonymo 8:exon1:c.C899T:p.S NA us SNV 300F NA NA 135 0 0% 175 86 32.95% NA 795 0 0% 941 112 10.64% NA 142 1 0.70% 146 105 41.83% Validation Negative METMCC_862 15 22369378 22369378 C T OR4M2 ID=COSM2 OR4M2:NM_001004 nonsynonymo 25031;OC 719:exon1:c.C803T: NA us SNV CURENCE p.S268F =3(skin) Validation Negative METMCC_862 15 23811047 23811047 G A MKRN3 MKRN3:NM_005664: nonsynonymo exon1:c.G118A:p.E4 NA us SNV 0K NA Validation Negative METMCC_862 15 25223396 25223396 C T SNRPN nonsynonymo us SNV Validation Negative METMCC_862 15 34395817 34395817 C T PGBD4 nonsynonymo us SNV Validation Negative METMCC_862 15 41549130 41549130 C T CHP1 nonsynonymo us SNV Validation Negative METMCC_862 15 53908091 53908091 T A WDR72 nonsynonymo us SNV Validation Negative METMCC_862 15 58920054 58920054 C T ADAM10 nonsynonymo us SNV Validation Negative METMCC_862 15 73635742 73635742 A G HCN4 nonsynonymo us SNV Validation Negative METMCC_862 15 77407517 77407517 G A PEAK1 nonsynonymo us SNV Validation Negative METMCC_862 16 1270593 1270593 C T CACNA1 H nonsynonymo us SNV SNRPN:NM_003097: exon9:c.C616T:p.P2 06S,SNRPN:NM_02 2805:exon11:c.C616 T:p.P206S,SNRPN: NM_022806:exon11: c.C616T:p.P206S,S NRPN:NM_022808:e xon11:c.C616T:p.P2 06S,SNRPN:NM_02 2807:exon12:c.C616 T:p.P206S PGBD4:NM_152595: exon1:c.C1085T:p.P 362L CHP1:NM_007236:e xon3:c.C163T:p.P55 S WDR72:NM_182758 :exon15:c.A2312T:p. K771I ADAM10:NM_00111 0:exon10:c.G1205A: p.G402E HCN4:NM_005477:e xon2:c.T1193C:p.I39 8T PEAK1:NM_024776: exon8:c.C4222T:p.P 1408S CACNA1H:NM_0010 05407:exon34:c.C66 43T:p.P2215S,CAC NA1H:NM_021098:e xon35:c.C6661T:p.P 2221S CORO7:NM_001201 473:exon10:c.C707T :p.A236V,CORO7:N M_001201472:exon1 2:c.C908T:p.A303V, CORO7PAM16:NM_001201 479:exon12:c.C962T :p.A321V,CORO7:N M_024535:exon12:c. C962T:p.A321V MGRN1:NM_001142 289:exon12:c.C1150 T:p.P384S,MGRN1: NM_001142291:exo n12:c.C1150T:p.P38 4S,MGRN1:NM_001 142290:exon13:c.C1 216T:p.P406S,MGR N1:NM_015246:exon 13:c.C1216T:p.P406 S ZNF500:NM_021646 :exon6:c.C862T:p.H2 88Y TEKT5:NM_144674: exon5:c.G985A:p.D3 29N ABCC6:NM_001171: exon23:c.T3284A:p. F1095Y TMC5:NM_024780:e xon4:c.C601A:p.L20 1I,TMC5:NM_00110 5248:exon8:c.C1339 A:p.L447I,TMC5:NM _001105249:exon8:c .C1339A:p.L447I,TM C5:NM_001261841:e xon8:c.C1339A:p.L4 47I UMOD:NM_0010083 89:exon7:c.C1427T: p.S476F,UMOD:NM_ 003361:exon7:c.C14 27T:p.S476F,UMOD: NM_001278614:exo n8:c.C1526T:p.S509 F NA NA NA 94 0 0% 103 59 36.42% NA NA NA 280 0 0% 308 179 36.76% NA NA NA 167 0 0% 131 91 40.99% NA NA NA 300 0 0% 389 225 36.64% NA NA NA 344 0 0% 308 170 35.56% NA NA NA 171 0 0% 209 107 33.86% NA NA NA 282 0 0% 327 214 39.56% NA NA NA 56 0 0% 152 82 35.04% NA NA NA 137 0 0% 152 165 52.05% NA NA NA 181 0 0% 344 136 28.33% NA NA NA 135 0 0% 126 199 61.23% NA NA NA 222 0 0% 552 172 23.76% NA NA NA 225 1 0.44% 328 167 33.74% NA NA NA 88 1 1.12% 114 90 44.12% Validation Negative METMCC_862 16 4414858 4414858 G A CORO7,C nonsynonymo ORO7us SNV PAM16 Validation Negative METMCC_862 16 4731635 4731635 C T MGRN1 nonsynonymo us SNV Validation Negative METMCC_862 16 4802958 4802958 G A ZNF500 nonsynonymo us SNV Validation Negative METMCC_862 16 10769917 10769917 C T TEKT5 nonsynonymo us SNV Validation Negative METMCC_862 16 16259502 16259502 A T ABCC6 nonsynonymo us SNV Validation Negative METMCC_862 16 19475200 19475200 C A TMC5 nonsynonymo us SNV Validation Negative METMCC_862 16 20352563 20352563 G A UMOD nonsynonymo us SNV NA NA NA 181 0 0% 227 136 37.47% A LOC81691:NM_0011 44924:exon13:c.G13 30A:p.E444K,LOC81 LOC8169 nonsynonymo 691:NM_001199053: NA 1 us SNV exon13:c.G1330A:p. E444K,LOC81691:N M_030941:exon13:c. G1330A:p.E444K NA NA 204 0 0% 164 62 27.43% Validation Negative METMCC_862 16 20844392 20844392 G Validation Negative METMCC_862 Validation Negative METMCC_862 16 16 28497942 29675770 28497942 G 29675770 A C G CLN3 CLN3:NM_00128610 5:exon5:c.C190G:p.L 64V,CLN3:NM_0012 86109:exon5:c.C256 G:p.L86V,CLN3:NM_ 001286110:exon6:c. nonsynonymo C328G:p.L110V,CLN NA us SNV 3:NM_000086:exon7 :c.C490G:p.L164V,C LN3:NM_001286104: exon7:c.C418G:p.L1 40V,CLN3:NM_0010 42432:exon8:c.C490 G:p.L164V NA NA 205 0 0% 260 155 37.35% SPN SPN:NM_001030288 :exon2:c.A721G:p.S nonsynonymo 241G,SPN:NM_0031 NA us SNV 23:exon2:c.A721G:p. S241G NA NA 251 0 0% 369 163 30.64% FUS:NM_001170634 :exon13:c.G1378T:p. G460C,FUS:NM_001 nonsynonymo 170937:exon13:c.G1 NA us SNV 369T:p.G457C,FUS: NM_004960:exon13: c.G1381T:p.G461C NA NA 243 0 0% 288 124 30.10% NA NA NA 68 0 0% 118 64 35.16% NA NA NA 113 0 0% 33 NA NA NA 266 0 0% 84 124 59.62% NA NA NA 44 0 0% 74 52 41.27% NA NA NA 172 0 0% 155 87 35.95% NA NA NA 188 0 0% 175 115 39.66% ID=COSM9 9732,COS M3701288, COSM370 1289,COS M43714;O CCURENC E=7(upper _aerodiges tive_tract), 1(bone),6( oesophagu s),1(central _nervous_ NA system),1( haematopo ietic_and_l ymphoid_ti ssue),1(lun g),1(ovary), 3(urinary_tr act),2(liver) ,4(large_int estine),3(s kin),3(brea st),1(small _intestine) NA 146 0 0% 170 117 40.77% NA NA NA 219 0 0% 265 123 31.70% NA NA NA 196 0 0% 307 187 37.85% NA NA NA 79 0 0% 90 55 37.93% NA NA NA 163 0 0% 164 67 NA NA NA 168 2 1.18% 143 78 35.29% Validation Negative METMCC_862 16 31202151 31202151 G T FUS Validation Negative METMCC_862 16 31408702 31408702 G A ITGAD Validation Negative METMCC_862 16 57951180 57951180 C A CNGB1 Validation Negative METMCC_862 16 71319516 71319516 C T CMTR2 Validation Negative METMCC_862 17 2604503 2604503 G A CLUH Validation Negative METMCC_862 17 3181392 3181392 C T OR3A2 Validation Negative METMCC_862 17 4880410 4880410 G C CAMTA2 Validation Negative METMCC_862 17 7577102 7577102 C T TP53 Validation Negative METMCC_862 17 8138479 8138479 G A CTC1 Validation Negative METMCC_862 17 9808154 9808154 C T RCVRN Validation Negative METMCC_862 17 10253891 10253891 C T MYH13 Validation Negative METMCC_862 17 10298736 10298736 C T MYH8 Validation Negative METMCC_862 17 10348462 10348462 G A MYH4 ITGAD:NM_005353: nonsynonymo exon3:c.G160A:p.E5 us SNV 4K CNGB1:NM_001286 130:exon21:c.G2140 nonsynonymo T:p.D714Y,CNGB1: us SNV NM_001297:exon21: c.G2158T:p.D720Y CMTR2:NM_001099 642:exon3:c.G308A: nonsynonymo p.R103K,CMTR2:NM us SNV _018348:exon3:c.G3 08A:p.R103K CLUH:NM_015229:e nonsynonymo xon7:c.C842T:p.S28 us SNV 1F OR3A2:NM_002551: nonsynonymo exon1:c.G838A:p.D2 us SNV 80N CAMTA2:NM_00117 1166:exon10:c.C184 9G:p.R617G,CAMTA 2:NM_001171168:ex on10:c.C1840G:p.R6 nonsynonymo 14G,CAMTA2:NM_0 us SNV 01171167:exon11:c. C1912G:p.R638G,C AMTA2:NM_015099: exon11:c.C1843G:p. R615G TP53:NM_00112611 5:exon4:c.G440A:p. G147E,TP53:NM_00 1126116:exon4:c.G4 40A:p.G147E,TP53: NM_001126117:exo n4:c.G440A:p.G147 E,TP53:NM_001276 697:exon4:c.G359A: p.G120E,TP53:NM_ 001276698:exon4:c. G359A:p.G120E,TP5 3:NM_001276699:ex on4:c.G359A:p.G120 nonsynonymo E,TP53:NM_001126 us SNV 118:exon7:c.G719A: p.G240E,TP53:NM_ 000546:exon8:c.G83 6A:p.G279E,TP53:N M_001126112:exon8 :c.G836A:p.G279E,T P53:NM_001126113: exon8:c.G836A:p.G2 79E,TP53:NM_0011 26114:exon8:c.G836 A:p.G279E,TP53:NM _001276695:exon8:c .G719A:p.G240E,TP 53:NM 001276696:e CTC1:NM_025099:e nonsynonymo xon8:c.C1331T:p.S4 us SNV 44F RCVRN:NM_002903 nonsynonymo :exon1:c.G344A:p.G us SNV 115E MYH13:NM_003802: nonsynonymo exon12:c.G1126A:p. us SNV E376K MYH8:NM_002472:e nonsynonymo xon34:c.G4676A:p.G us SNV 1559E MYH4:NM_017533:e nonsynonymo xon37:c.C5297T:p.A us SNV 1766V 42 56% 29% Validation Negative METMCC_862 17 18158541 18158541 C T FLII nonsynonymo us SNV Validation Negative METMCC_862 17 19617154 19617154 C A SLC47A2 nonsynonymo us SNV Validation Negative METMCC_862 17 27011900 27011900 G A SUPT6H nonsynonymo us SNV Validation Negative METMCC_862 17 27286180 27286180 C T SEZ6 nonsynonymo us SNV Validation Negative METMCC_862 17 29496934 29496934 G A NF1 nonsynonymo us SNV Validation Negative METMCC_862 17 29664530 29664530 C T NF1 nonsynonymo us SNV Validation Negative METMCC_862 17 38978419 38978419 C T KRT10 nonsynonymo us SNV Validation Negative METMCC_862 17 39346718 39346718 A G KRTAP9- nonsynonymo 1 us SNV Validation Negative METMCC_862 17 39521501 39521501 A G KRT33B nonsynonymo us SNV Validation Negative METMCC_862 17 40811531 40811531 G A TUBG2 Validation Negative METMCC_862 17 40939432 40939432 G A WNK4 Validation Negative METMCC_862 17 41835974 41835974 G A SOST Validation Negative METMCC_862 17 42155901 42155901 G A HDAC5 FLII:NM_001256264: exon4:c.G250A:p.G8 4R,FLII:NM_001256 265:exon4:c.G283A: p.G95R,FLII:NM_002 018:exon4:c.G283A: p.G95R SLC47A2:NM_00109 9646:exon4:c.G427T :p.D143Y,SLC47A2: NM_001256663:exo n4:c.G427T:p.D143Y ,SLC47A2:NM_1529 08:exon4:c.G427T:p. D143Y SUPT6H:NM_00317 0:exon19:c.G2408A: p.G803E SEZ6:NM_00109863 5:exon10:c.G1970A: p.R657Q,SEZ6:NM_ 001290202:exon10:c .G1595A:p.R532Q,S EZ6:NM_178860:exo n10:c.G1970A:p.R65 7Q NF1:NM_000267:exo n5:c.G505A:p.E169K ,NF1:NM_00104249 2:exon5:c.G505A:p. E169K,NF1:NM_001 128147:exon5:c.G50 5A:p.E169K NF1:NM_000267:exo n42:c.C6509T:p.S21 70F,NF1:NM_00104 2492:exon43:c.C657 2T:p.S2191F KRT10:NM_000421: exon1:c.G419A:p.G1 40D KRTAP91:NM_001190460:ex on1:c.A580G:p.T194 A KRT33B:NM_002279 :exon5:c.T802C:p.Y2 68H NA NA NA 180 0 0% 270 135 33.33% NA NA NA 53 0 0% 44 53 54.64% NA NA NA 251 0 0% 352 171 32.70% NA NA rs368973 190 302 0 0% 414 251 37.74% NA NA NA 151 0 0% 120 40 NA NA NA 208 1 0.48% 110 59 34.91% NA NA NA 291 0 0% 216 138 38.98% NA NA NA 222 0 0% 242 140 36.65% NA NA rs138903 249 56 0 0% 46 33 41.77% nonsynonymo TUBG2:NM_016437: NA us SNV exon1:c.G10A:p.E4K NA NA 141 0 0% 151 92 37.86% NA NA 196 0 0% 314 157 33.33% NA NA 221 0 0% 220 126 36.42% NA NA 192 0 0% 323 160 33.13% NA NA NA 183 0 0% 355 123 25.73% NA NA NA 170 0 0% 198 103 34.22% NA NA NA 102 0 0% 100 57 36.31% NA NA NA 169 0 0% 139 83 37.39% NA NA rs199473 389 214 0 0% 219 104 32.20% NA NA NA 126 0 0% 193 110 36.30% NA WNK4:NM_032387:e nonsynonymo xon7:c.G1613A:p.G5 NA us SNV 38E SOST:NM_025237:e nonsynonymo xon1:c.C136T:p.P46 NA us SNV S HDAC5:NM_001015 053:exon26:c.C3299 nonsynonymo T:p.A1100V,HDAC5: NA us SNV NM_005474:exon26: c.C3296T:p.A1099V ARHGAP27:NM_001 282290:exon17:c.C2 570T:p.P857L,ARHG AP27:NM_199282:ex on17:c.C1547T:p.P5 16L CDK5RAP3:NM_001 278198:exon13:c.G8 23A:p.G275R VEZF1:NM_007146: exon6:c.G1229C:p.G 410A USP32:NM_032582: exon4:c.G409A:p.E1 37K KCNJ2:NM_000891: exon2:c.C934T:p.R3 12C LLGL2:NM_0010150 02:exon10:c.G1043A :p.R348K ITGB4:NM_0010056 19:exon19:c.G2446A :p.V816M,ITGB4:NM _000213:exon20:c.G 2446A:p.V816M,ITG B4:NM_001005731:e xon20:c.G2446A:p.V 816M 25% Validation Negative METMCC_862 17 43472922 43472922 G A ARHGAP nonsynonymo 27 us SNV Validation Negative METMCC_862 17 46058972 46058972 G A CDK5RAP nonsynonymo 3 us SNV Validation Negative METMCC_862 17 56052171 56052171 C G VEZF1 nonsynonymo us SNV Validation Negative METMCC_862 17 58372046 58372046 C T USP32 nonsynonymo us SNV Validation Negative METMCC_862 17 68172114 68172114 C T KCNJ2 nonsynonymo us SNV Validation Negative METMCC_862 17 73560595 73560595 G A LLGL2 nonsynonymo us SNV Validation Negative METMCC_862 17 73736152 73736152 G A ITGB4 nonsynonymo us SNV NA NA 117 0 0% 173 95 35.45% QRICH2 ID=COSM3 QRICH2:NM_032134 421917;OC nonsynonymo :exon4:c.G828T:p.M CURENCE NA us SNV =1(large_in 276I testine) NA 159 1 0.62% 183 110 37.54% JMJD6 JMJD6:NM_0010814 61:exon4:c.A836C:p. nonsynonymo D279A,JMJD6:NM_0 NA us SNV 15167:exon4:c.A836 C:p.D279A NA 170 0 168 97 36.60% Validation Negative METMCC_862 Validation Negative METMCC_862 17 17 74289482 74717985 74289482 C 74717985 T A G NA 0% Validation Negative METMCC_862 Validation Negative METMCC_862 17 17 77075600 79866887 77075600 C 79866887 G T A ENGASE ENGASE:NM_00104 nonsynonymo 2573:exon4:c.C446T NA us SNV :p.P149L NA NA 225 0 0% 351 205 36.87% PCYT2 PCYT2:NM_0011849 17:exon3:c.C205T:p. P69S,PCYT2:NM_00 1256434:exon3:c.C2 nonsynonymo 8T:p.P10S,PCYT2:N NA us SNV M_001282204:exon3 :c.C109T:p.P37S,PC YT2:NM_002861:exo n3:c.C205T:p.P69S NA rs201134 104 173 0 0% 214 146 40.56% NA NA NA 120 0 0% 108 46 29.87% NA NA NA 147 0 0% 129 53 29.12% NA NA NA 222 0 0% 571 355 38.34% NA NA NA 291 0 0% 317 155 32.84% NA NA NA 331 0 0% 279 129 31.62% NA NA NA 452 2 0.44% 543 239 30.56% NA NA NA 176 1 0.56% 366 132 26.51% NA NA NA 63 0 0% 71 94 56.97% NA NA rs201601 935 138 0 0% 435 149 25.51% NA NA NA 179 0 0% 457 158 25.69% NA NA NA 56 0 0% 140 39 21.79% NA NA NA 155 0 0% 288 104 26.53% NA NA NA 70 0 0% 72 29 28.71% NA NA NA 220 0 0% 419 371 46.96% NA NA NA 182 0 0% 260 299 53.49% NA NA NA 135 0 0% 252 79 23.87% NA NA NA 226 0 0% 286 243 45.94% NA NA NA 175 0 0% 362 111 23.47% NA NA NA 140 0 0% 240 293 54.97% NA NA NA 310 0 0% 335 337 50.15% NA NA rs402034 6 17 0 0% 23 12 34.29% NA NA NA 220 0 0% 339 144 29.81% Validation Negative METMCC_862 18 3164317 3164317 C T MYOM1 nonsynonymo us SNV Validation Negative METMCC_862 18 10680307 10680307 C T PIEZO2 nonsynonymo us SNV Validation Negative METMCC_862 18 13826318 13826318 A G MC5R nonsynonymo us SNV Validation Negative METMCC_862 18 19024289 19024289 G A GREB1L nonsynonymo us SNV Validation Negative METMCC_862 18 19153966 19153966 G A ESCO1 nonsynonymo us SNV Validation Negative METMCC_862 18 25532171 25532171 G C CDH2 nonsynonymo us SNV Validation Negative METMCC_862 18 74154289 74154289 G T ZNF516 nonsynonymo us SNV Validation Negative METMCC_862 19 932573 932573 G A ARID3A nonsynonymo us SNV Validation Negative METMCC_862 19 1004854 1004854 G A GRIN3B nonsynonymo us SNV Validation Negative METMCC_862 19 5208402 5208402 C T PTPRS nonsynonymo us SNV Validation Negative METMCC_862 19 5594056 5594056 C T SAFB2 nonsynonymo us SNV Validation Negative METMCC_862 19 6534689 6534689 A T TNFSF9 nonsynonymo us SNV Validation Negative METMCC_862 19 8528568 8528568 G A HNRNPM nonsynonymo us SNV Validation Negative METMCC_862 19 9062300 9062300 C T MUC16 nonsynonymo us SNV Validation Negative METMCC_862 19 9083927 9083927 G A MUC16 nonsynonymo us SNV Validation Negative METMCC_862 19 9639129 9639129 G A ZNF426 nonsynonymo us SNV Validation Negative METMCC_862 19 11728223 11728223 C T ZNF627 nonsynonymo us SNV Validation Negative METMCC_862 19 12244265 12244265 C T ZNF20 nonsynonymo us SNV Validation Negative METMCC_862 19 14583542 14583542 C T PTGER1 nonsynonymo us SNV Validation Negative METMCC_862 19 14829866 14829866 C T ZNF333 nonsynonymo us SNV Validation Negative METMCC_862 19 15989730 15989730 T C CYP4F2 nonsynonymo us SNV Validation Negative METMCC_862 19 38865245 38865245 T C PSMD8 nonsynonymo us SNV MYOM1:NM_003803 :exon10:c.G1460A:p. G487E,MYOM1:NM_ 019856:exon10:c.G1 460A:p.G487E PIEZO2:NM_022068 :exon48:c.G7502A:p. G2501E MC5R:NM_005913:e xon1:c.A554G:p.Y18 5C GREB1L:NM_00114 2966:exon11:c.G131 2A:p.E438K ESCO1:NM_052911: exon4:c.C839T:p.P2 80L CDH2:NM_001792:e xon16:c.C2667G:p.D 889E ZNF516:NM_014643 :exon3:c.C722A:p.P2 41H ARID3A:NM_005224 :exon3:c.G524A:p.R 175Q GRIN3B:NM_138690 :exon3:c.G1354A:p. D452N PTPRS:NM_130853: exon27:c.G4147A:p. D1383N,PTPRS:NM _130855:exon28:c.G 4159A:p.D1387N,PT PRS:NM_130854:ex on31:c.G5374A:p.D1 792N,PTPRS:NM_00 2850:exon36:c.G548 8A:p.D1830N SAFB2:NM_014649: exon15:c.G2053A:p. E685K TNFSF9:NM_003811 :exon3:c.A377T:p.Y1 26F HNRNPM:NM_00129 7418:exon4:c.G76A: p.E26K,HNRNPM:N M_005968:exon5:c. G436A:p.E146K,HN RNPM:NM_031203:e xon5:c.G436A:p.E14 6K MUC16:NM_024690: exon3:c.G25146A:p. M8382I MUC16:NM_024690: exon1:c.C7888T:p.P 2630S ZNF426:NM_024106 :exon8:c.C1592T:p.P 531L ZNF627:NM_001290 084:exon4:c.C575T: p.T192I,ZNF627:NM _001290085:exon4:c .C575T:p.T192I,ZNF 627:NM_145295:exo n4:c.C905T:p.T302I, ZNF627:NM_001290 083:exon5:c.C809T: p.T270I ZNF20:NM_0012032 50:exon4:c.G727A:p. E243K,ZNF20:NM_0 21143:exon4:c.G736 A:p.E246K PTGER1:NM_00095 5:exon3:c.G1039A:p. D347N ZNF333:NM_032433 :exon12:c.C1727T:p. S576F CYP4F2:NM_001082 :exon13:c.A1414G:p. T472A PSMD8:NM_002812: exon1:c.T4C:p.F2L Validation Negative METMCC_862 19 41711902 41711902 G A CYP2S1 Validation Negative METMCC_862 19 42485776 42485776 C T ATP1A3 Validation Negative METMCC_862 19 42879693 42879693 C T MEGF8 CYP2S1:NM_03062 nonsynonymo 2:exon8:c.G1204A:p. NA us SNV D402N ATP1A3:NM_001256 213:exon11:c.G1348 A:p.G450R,ATP1A3: nonsynonymo NM_001256214:exo NA us SNV n11:c.G1354A:p.G45 2R,ATP1A3:NM_152 296:exon11:c.G1315 A:p.G439R 19 44933359 44933359 G A ZNF229 nonsynonymo us SNV Validation Negative METMCC_862 19 48254326 48254326 C T GLTSCR2 nonsynonymo us SNV Validation Negative METMCC_862 19 50902211 50902211 G A POLD1 nonsynonymo us SNV Validation Negative METMCC_862 19 52327592 52327592 G A FPR3 nonsynonymo us SNV Validation Negative METMCC_862 19 55087307 55087307 A G LILRA2 nonsynonymo us SNV Validation Negative METMCC_862 19 55098691 55098691 G A LILRA2 nonsynonymo us SNV LILRB1 19 55144754 55144754 G A Validation Negative METMCC_862 19 55805419 55805419 G A Validation Negative METMCC_862 19 56156526 56156526 C T Validation Negative METMCC_862 19 56466922 56466922 G A Validation Negative METMCC_862 20 3870007 3870007 G A Validation Negative METMCC_862 20 4228610 4228610 G A Validation Negative METMCC_862 20 31238445 31238445 C T Validation Negative METMCC_862 20 33203865 33203865 C T Validation Negative METMCC_862 20 34797651 34797651 C T Validation Negative METMCC_862 20 35421987 35421987 C T NA 90 0 0% 105 110 51.16% NA NA 210 0 0% 468 466 49.89% NA NA 173 0 0% 304 329 51.97% NA NA NA 257 0 0% 403 415 50.73% NA NA NA 162 2 1.22% 247 229 48.11% 0.0002 NA 24 0 0% 67 18 21.18% MEGF8:NM_001410: exon41:c.C7103T:p. nonsynonymo P2368L,MEGF8:NM NA us SNV _001271938:exon42: c.C7304T:p.P2435L Validation Negative METMCC_862 Validation Negative METMCC_862 NA ZNF229:NM_001278 510:exon6:c.C1579T :p.L527F,ZNF229:N M_014518:exon6:c. C1597T:p.L533F GLTSCR2:NM_0157 10:exon4:c.C560T:p. T187I POLD1:NM_001256 849:exon2:c.G103A: p.E35K,POLD1:NM_ 002691:exon2:c.G10 3A:p.E35K FPR3:NM_002030:e xon2:c.G591A:p.M19 7I LILRA2:NM_001290 270:exon5:c.A950G: p.Q317R,LILRA2:NM _001130917:exon6:c .A986G:p.Q329R,LIL RA2:NM_001290271 :exon7:c.A986G:p.Q 329R,LILRA2:NM_00 6866:exon7:c.A986G :p.Q329R LILRA2:NM_001290 270:exon6:c.G1243A :p.D415N,LILRA2:N M_001130917:exon8 :c.G1330A:p.D444N, LILRA2:NM_006866: exon8:c.G1279A:p.D 427N NA NA NA NA 280 0 0% 372 355 48.83% NA NA NA 115 0 0% 115 117 50.43% NA NA NA 211 0 0% 295 101 25.51% LILRB1:NM_001081 637:exon7:c.G1246A :p.E416K,LILRB1:N M_001081638:exon7 :c.G1246A:p.E416K, LILRB1:NM_001081 639:exon7:c.G1246A nonsynonymo :p.E416K,LILRB1:N NA us SNV M_001278398:exon7 :c.G1246A:p.E416K, LILRB1:NM_001278 399:exon7:c.G1246A :p.E416K,LILRB1:N M_006669:exon8:c. G1246A:p.E416K NA NA 81 0 0% 85 121 58.74% NA NA NA 78 1 1.27% 149 43 22.40% NA NA NA 109 0 0% 96 85 46.96% NA NA NA 204 0 0% 453 160 26.10% NA NA NA 158 0 0% 177 132 42.72% NA NA NA 166 0 0% 347 256 42.45% NA NA NA 102 0 0% 162 95 36.96% NA NA NA 66 0 0% 46 29 38.67% NA NA NA 182 0 0% 395 180 31.30% NA NA NA 232 0 0% 426 212 33.23% BRSK1:NM_032430: nonsynonymo BRSK1 exon5:c.G493A:p.D1 us SNV 65N ZNF581:NM_016535 nonsynonymo ZNF581 :exon2:c.C589T:p.P1 us SNV 97S NLRP8:NM_176811: nonsynonymo NLRP8 exon3:c.G1498A:p.E us SNV 500K PANK2:NM_153638: nonsynonymo PANK2 exon1:c.G260A:p.R8 us SNV 7K ADRA1D:NM_00067 nonsynonymo ADRA1D 8:exon1:c.C995T:p.S us SNV 332L C20orf203:NM_1825 nonsynonymo C20orf203 84:exon3:c.G374A:p. us SNV G125E PIGU:NM_080476:ex nonsynonymo PIGU on7:c.G608A:p.G203 us SNV E EPB41L1:NM_00125 8331:exon14:c.C168 8T:p.S563F,EPB41L 1:NM_177996:exon1 4:c.C1688T:p.S563F nonsynonymo EPB41L1 ,EPB41L1:NM_0121 us SNV 56:exon15:c.C1910T :p.S637F,EPB41L1: NM_001258329:exo n16:c.C1910T:p.S63 7F SOGA1:NM_080627: nonsynonymo SOGA1 exon14:c.G4498A:p. us SNV E1500K Validation Negative METMCC_862 20 37356564 37356564 C T ID=COSM1 SLC32A1:NM_08055 nonsynonymo 713459;OC SLC32A1 2:exon2:c.C860T:p.S NA us SNV CURENCE 287L =1(skin) NA 214 0 0% 382 232 37.79% NA NA 262 0 0% 336 171 33.73% NA NA 163 0 0% 179 102 36.30% NA NA 265 0 0% 211 73 25.70% LAMA5 ID=COSM3 LAMA5:NM_005560: 693615;OC nonsynonymo exon71:c.C9707T:p. CURENCE NA us SNV P3236L =1(large_in testine) NA 84 0 0% 108 52 32.50% DIDO1 DIDO1:NM_0011933 69:exon16:c.C6118T nonsynonymo :p.R2040C,DIDO1:N NA us SNV M_033081:exon16:c. C6118T:p.R2040C NA NA 142 0 0% 250 139 35.73% NA NA NA 205 0 0% 250 154 38.12% NA NA NA 113 0 0% 80 48 37.50% NA NA NA 122 1 0.81% 208 103 33.12% NA NA NA 145 0 0% 208 105 33.55% NA NA NA 243 0 0% 408 255 38.46% Validation Negative METMCC_862 20 47734420 47734420 G A STAU1 Validation Negative METMCC_862 20 50407458 50407458 G A SALL4 Validation Negative METMCC_862 20 58496369 58496369 C A SYCP2 Validation Negative METMCC_862 Validation Negative METMCC_862 20 20 60886769 61511190 60886769 G 61511190 G A A STAU1:NM_017454: exon9:c.C1160T:p.A 387V,STAU1:NM_01 7452:exon10:c.C116 0T:p.A387V,STAU1: nonsynonymo NM_001037328:exo NA us SNV n11:c.C1178T:p.A39 3V,STAU1:NM_0046 02:exon11:c.C1160T :p.A387V,STAU1:NM _017453:exon11:c.C 1403T:p.A468V SALL4:NM_020436: nonsynonymo exon2:c.C1564T:p.P NA us SNV 522S SYCP2:NM_014258: nonsynonymo exon3:c.G164T:p.C5 NA us SNV 5F BACE2:NM_012105: exon3:c.G455A:p.G1 52E,BACE2:NM_138 991:exon3:c.G455A: p.G152E,BACE2:NM _138992:exon3:c.G4 55A:p.G152E HIRA:NM_003325:ex on5:c.C379T:p.L127 F RTN4R:NM_023004: exon2:c.C667T:p.R2 23C CABIN1:NM_001201 429:exon31:c.A4973 T:p.K1658M,CABIN1 :NM_001199281:exo n32:c.A5123T:p.K17 08M,CABIN1:NM_01 2295:exon32:c.A512 3T:p.K1708M SGSM1:NM_001098 497:exon16:c.G1682 A:p.G561E,SGSM1: NM_001098498:exo n16:c.G1682A:p.G56 1E,SGSM1:NM_001 039948:exon17:c.G1 847A:p.G616E,SGS M1:NM_133454:exo n17:c.G1847A:p.G61 6E KIAA1671:NM_0011 45206:exon3:c.G177 4A:p.E592K Validation Negative METMCC_862 21 42609493 42609493 G A BACE2 nonsynonymo us SNV Validation Negative METMCC_862 22 19393327 19393327 G A HIRA nonsynonymo us SNV Validation Negative METMCC_862 22 20229989 20229989 G A RTN4R nonsynonymo us SNV Validation Negative METMCC_862 22 24562722 24562722 A T CABIN1 nonsynonymo us SNV Validation Negative METMCC_862 22 25282607 25282607 G A SGSM1 nonsynonymo us SNV Validation Negative METMCC_862 22 25434871 25434871 G A KIAA1671 nonsynonymo us SNV NA NA NA 196 0 0% 288 193 40.12% INPP5J INPP5J:NM_001284 287:exon12:c.C1297 T:p.L433F,INPP5J:N M_001002837:exon1 3:c.C1498T:p.L500F, INPP5J:NM_001284 285:exon13:c.C2602 nonsynonymo T:p.L868F,INPP5J:N NA us SNV M_001284286:exon1 4:c.C2401T:p.L801F, INPP5J:NM_001284 288:exon14:c.C1501 T:p.L501F,INPP5J:N M_001284289:exon1 5:c.C1501T:p.L501F NA NA 228 0 0% 350 234 40.07% A PICK1 PICK1:NM_0010395 83:exon3:c.C139A:p. L47I,PICK1:NM_001 nonsynonymo 039584:exon3:c.C13 NA us SNV 9A:p.L47I,PICK1:NM _012407:exon3:c.C1 39A:p.L47I NA NA 202 0 0% 234 122 34.27% NA NA 75 0 0% 113 51 31.10% BRD1:NM_014577:e nonsynonymo xon2:c.C1505T:p.S5 NA us SNV 02F NA NA 43 0 0% 42 40 48.78% Validation Negative METMCC_862 Validation Negative METMCC_862 22 22 31529986 38455338 31529986 C 38455338 C T Validation Negative METMCC_862 22 39438965 39438965 G A APOBEC3F:NM_001 006666:exon2:c.G41 APOBEC nonsynonymo A:p.R14Q,APOBEC3 NA 3F us SNV F:NM_145298:exon2 :c.G41A:p.R14Q Validation Negative METMCC_862 22 50197871 50197871 G A BRD1 Validation Negative METMCC_862 X 2852910 2852910 G A ARSE nonsynonymo us SNV Validation Negative METMCC_862 X 12632913 12632913 G A FRMPD4 nonsynonymo us SNV Validation Negative METMCC_862 X 16188963 16188963 G A MAGEB1 nonsynonymo 7 us SNV Validation Negative METMCC_862 X 19482394 19482394 G A MAP3K15 nonsynonymo us SNV Validation Negative METMCC_862 X 32481651 32481651 G T DMD nonsynonymo us SNV Validation Negative METMCC_862 X 40534501 40534501 G A MED14 nonsynonymo us SNV PQBP1 Validation Negative METMCC_862 X 48760206 48760206 G A Validation Negative METMCC_862 X 50377182 50377182 G A Validation Negative METMCC_862 X 51238810 51238810 C T Validation Negative METMCC_862 X 51639551 51639551 G A Validation Negative METMCC_862 X 69748974 69748974 C T Validation Negative METMCC_862 X 100911239 100911239 C T Validation Negative METMCC_862 X 107829851 107829851 C T Validation Negative METMCC_862 X 107977830 107977830 G A Validation Negative METMCC_862 X 111698069 111698069 C T Validation Negative METMCC_862 X 117528073 117528073 A T Validation Negative METMCC_862 X 118968959 118968959 C T ARSE:NM_0012826 31:exon10:c.C1598T :p.P533L,ARSE:NM_ 000047:exon11:c.C1 733T:p.P578L,ARSE :NM_001282628:exo n12:c.C1808T:p.P60 3L FRMPD4:NM_01472 8:exon4:c.G335A:p. G112D MAGEB17:NM_0012 77307:exon2:c.G458 A:p.R153K MAP3K15:NM_0010 01671:exon4:c.C656 T:p.P219L DMD:NM_000109:ex on25:c.C3313A:p.Q1 105K,DMD:NM_0040 06:exon25:c.C3337A :p.Q1113K,DMD:NM _004009:exon25:c.C 3325A:p.Q1109K,D MD:NM_004010:exo n25:c.C2968A:p.Q99 0K MED14:NM_004229: exon22:c.C2993T:p. S998L 0% 40 26 39.39% 155 2 1.27% 169 119 41.32% NA 240 1 0.41% 326 180 35.57% NA NA 105 1 0.94% 125 50 28.57% NA NA NA 174 0 0% 124 66 34.74% NA NA NA 175 0 0% 168 82 32.80% PQBP1:NM_001167 992:exon6:c.G343A: p.G115S,PQBP1:NM _005710:exon6:c.G6 43A:p.G215S,PQBP 1:NM_144495:exon6 :c.G358A:p.G120S,P QBP1:NM_00103238 1:exon7:c.G643A:p. G215S,PQBP1:NM_ nonsynonymo 001032382:exon7:c. NA us SNV G643A:p.G215S,PQ BP1:NM_001032383 :exon7:c.G643A:p.G 215S,PQBP1:NM_00 1032384:exon7:c.G6 43A:p.G215S,PQBP 1:NM_001167989:ex on7:c.G640A:p.G214 S,PQBP1:NM_00116 7990:exon7:c.G619A :p.G207S NA NA 245 0 0% 365 227 38.34% NA NA NA 241 0 0% 391 199 33.73% NA NA NA 27 0 0% 19 11 36.67% NA NA NA 226 0 0% 361 197 35.30% NA NA NA 164 0 0% 164 72 30.51% NA NA NA 153 1 0.65% 131 68 34.17% NA NA NA 51 0 0% 44 25 36.23% NA NA NA 315 0 0% 728 423 36.75% NA NA NA 259 0 0% 399 214 34.91% NA NA NA 242 0 0% 207 94 31.23% NA NA NA 217 0 0% 261 144 35.56% SHROOM4:NM_020 SHROOM nonsynonymo 717:exon4:c.C1891T 4 us SNV :p.P631S NUDT11:NM_01815 nonsynonymo NUDT11 9:exon1:c.G487A:p. us SNV D163N MAGED1:NM_00100 5332:exon4:c.G800A :p.R267Q,MAGED1: nonsynonymo NM_006986:exon4:c MAGED1 us SNV .G800A:p.R267Q,MA GED1:NM_0010053 33:exon5:c.G968A:p. R323Q TEX11:NM_031276: exon30:c.G2749A:p. nonsynonymo TEX11 E917K,TEX11:NM_0 us SNV 01003811:exon31:c. G2794A:p.E932K ARMCX2:NM_01478 2:exon5:c.G1336A:p. E446K,ARMCX2:NM nonsynonymo _001282231:exon6:c ARMCX2 us SNV .G1336A:p.E446K,A RMCX2:NM_177949: exon6:c.G1336A:p.E 446K COL4A5:NM_00049 nonsynonymo COL4A5 5:exon19:c.C1039T: us SNV p.P347S IRS4:NM_003604:ex nonsynonymo IRS4 on1:c.C1745T:p.S58 us SNV 2L ZCCHC16:NM_0010 nonsynonymo ZCCHC16 04308:exon3:c.C113 us SNV T:p.A38V WDR44:NM_001184 966:exon4:c.A807T: p.E269D,WDR44:N nonsynonymo M_001184965:exon5 WDR44 us SNV :c.A882T:p.E294D,W DR44:NM_019045:e xon5:c.A882T:p.E29 4D UPF3B:NM_023010: exon10:c.G1295A:p. nonsynonymo UPF3B G432E,UPF3B:NM_ us SNV 080632:exon11:c.G1 334A:p.G445E NA NA NA 27 NA NA NA NA NA NA 0 Validation Negative METMCC_862 X 132159805 132159805 C T Validation Negative METMCC_862 X 132351428 132351428 T A Validation Negative METMCC_862 X 134988291 134988291 C A Validation Negative METMCC_862 X 148038063 148038063 G A Validation Negative METMCC_862 13 48941629 48941629 G A Validation Negative METMCC_862 16 9858806 9858806 C T Validation Negative METMCC_862 7 98461024 98461024 C T Validation Negative METMCC_862 12 2705039 2705039 G A Validation Negative METMCC_862 3 105238910 105238910 G A Validation Negative METMCC_862 12 104481763 104481763 G A Validation Negative METMCC_862 3 49052032 49052032 G A USP26:NM_031907: nonsynonymo exon1:c.G2444A:p.R us SNV 815K TFDP3:NM_016521: nonsynonymo TFDP3 exon1:c.A860T:p.E2 us SNV 87V SAGE1:NM_018666: nonsynonymo SAGE1 exon6:c.C563A:p.T1 us SNV 88N AFF2:NM_00117062 8:exon8:c.G1411A:p. E471K,AFF2:NM_00 1169122:exon10:c.G 2389A:p.E797K,AFF 2:NM_001169124:ex on10:c.G2383A:p.E7 nonsynonymo AFF2 95K,AFF2:NM_0011 us SNV 69125:exon10:c.G23 71A:p.E791K,AFF2: NM_001169123:exo n11:c.G2458A:p.E82 0K,AFF2:NM_00202 5:exon11:c.G2488A: p.E830K NM_000321:exon10: RB1 splicing c.940-1G>A NM_001134408:exo n14:c.25961G>A,NM_00113440 GRIN2A splicing 7:exon14:c.25961G>A,NM_000833:e xon15:c.2596-1G>A NM_001134450:exo n3:c.86TMEM130 splicing 1G>A,NM_152913:e xon3:c.86-1G>A NM_001167625:exo n20:c.26641G>A,NM_00112984 4:exon20:c.26551G>A,NM_00112983 4:exon20:c.26641G>A,NM_00112983 8:exon20:c.26641G>A,NM_000719:e xon20:c.26641G>A,NM_00112983 9:exon20:c.26641G>A,NM_00116762 3:exon20:c.2664CACNA1 splicing 1G>A,NM_00112984 C 1:exon20:c.26641G>A,NM_00112984 0:exon20:c.26641G>A,NM_00112982 7:exon20:c.26641G>A,NM_00112983 6:exon20:c.26641G>A,NM_00112984 6:exon20:c.26641G>A,NM_00112983 5:exon20:c.26641G>A,NM_00112984 3:exon20:c.26641G>A,NM 00112983 NM_001243283:exo n2:c.741G>A,NM_00124328 1:exon2:c.74ALCAM splicing 1G>A,NM_001627:e xon2:c.741G>A,NM_00124328 0:exon2:c.74-1G>A NM_013320:exon9:c HCFC2 splicing .1232-1G>A NM_018031:exon5:c splicing WDR6 .2874-1G>A USP26 NA NA NA 183 0 0% 202 82 28.87% NA NA NA 168 0 0% 276 158 36.41% NA NA NA 230 0 0% 280 133 32.20% NA NA NA 218 0 0% 242 143 37.14% NA NA NA 193 0 0% 62 90 59.21% NA NA NA 120 0 0% 212 77 26.64% NA NA NA 119 1 0.83% 177 84 32.18% NA NA NA 108 0 0% 150 75 33.33% NA NA NA 195 0 0% 144 82 36.28% NA NA NA 171 0 0% 114 76 NA NA NA 224 0 0% 356 214 37.54% NA NA 224 0 0% 219 107 32.82% 40% Validation Negative METMCC_862 1 12422775 12422775 G A VPS13D splicing NM_018156:exon50: c.10067NA 1G>A,NM_015378:e xon51:c.10142-1G>A Validation Negative METMCC_862 6 53785560 53785560 G A LRRC1 splicing NM_018214:exon13: NA c.1416+1G>A NA NA 238 0 0% 348 190 35.32% NM_058187:exon3:c .358NA 1G>A,NM_00128655 6:exon3:c.358-1G>A NA NA 65 0 0% 82 39 32.23% NA NA NA 193 0 0% 159 70 30.57% NA NA NA 188 0 0% 215 49 18.56% NA NA NA 278 0 0% 218 120 35.50% NA NA NA 57 0 0% 15 33 68.75% Validation Negative METMCC_862 21 33829904 33829904 G A EVA1C splicing Validation Negative METMCC_862 1 28120144 28120144 G A STX12 splicing Validation Negative METMCC_862 1 111957466 111957466 G A OVGP1 stopgain Validation Negative METMCC_862 1 212960929 212960929 C T NSL1 stopgain Validation Negative METMCC_862 2 A APOB stopgain 21233193 21233193 G NM_177424:exon3:c .288+1G>A OVGP1:NM_002557: exon11:c.C1657T:p. Q553X NSL1:NM_00104254 9:exon2:c.G285A:p. W95X,NSL1:NM_01 5471:exon2:c.G285A :p.W95X APOB:NM_000384:e xon26:c.C6547T:p.Q 2183X Validation Negative METMCC_862 2 158272212 158272212 C A CYTIP stopgain Validation Negative METMCC_862 3 111705174 111705174 G A ABHD10 stopgain Validation Negative METMCC_862 3 138738714 138738714 G A PRR23B stopgain Validation Negative METMCC_862 6 38980387 G A DNAH8 stopgain Validation Negative METMCC_862 7 131870113 131870113 G A PLXNA4 stopgain Validation Negative METMCC_862 7 149529908 149529908 G T SSPO stopgain Validation Negative METMCC_862 9 74764515 74764515 C T GDA stopgain Validation Negative METMCC_862 10 17087097 17087097 C T CUBN stopgain Validation Negative METMCC_862 10 101370986 101370986 G A SLC25A2 stopgain 8 Validation Negative METMCC_862 11 4593480 4593480 C T C11orf40 stopgain Validation Negative METMCC_862 11 4843213 4843213 C T OR51F2 stopgain Validation Negative METMCC_862 12 16043597 16043597 G T STRAP stopgain Validation Negative METMCC_862 12 38980387 50869315 T LARP4 stopgain Validation Negative METMCC_862 12 56115116 C T RDH5 stopgain Validation Negative METMCC_862 12 120580416 120580416 C T GCN1L1 stopgain Validation Negative METMCC_862 16 27518237 27518237 G A GTF3C1 stopgain Validation Negative METMCC_862 16 77356355 77356355 G A ADAMTS stopgain 18 Validation Negative METMCC_862 17 56115116 50869315 C 6596431 6596431 G A SLC13A5 stopgain CYTIP:NM_004288:e xon8:c.G1057T:p.E3 53X ABHD10:NM_00127 2069:exon3:c.G390A :p.W130X,ABHD10: NM_018394:exon3:c .G390A:p.W130X PRR23B:NM_00101 3650:exon1:c.C790T :p.Q264X DNAH8:NM_001206 927:exon91:c.G1368 8A:p.W4563X PLXNA4:NM_02091 1:exon16:c.C3103T: p.Q1035X SSPO:NM_198455:e xon109:c.G15322T:p .E5108X GDA:NM_00124250 5:exon1:c.C40T:p.R1 4X,GDA:NM_004293 :exon1:c.C40T:p.R14 X CUBN:NM_001081:e xon25:c.G3581A:p. W1194X SLC25A28:NM_0312 12:exon4:c.C715T:p. Q239X C11orf40:NM_14466 3:exon3:c.G353A:p. W118X OR51F2:NM_001004 753:exon1:c.C598T: p.Q200X STRAP:NM_007178: exon4:c.G397T:p.E1 33X NA NA NA 529 1 0.19% 535 280 34.36% NA NA NA 233 0 0% 220 118 34.91% NA NA NA 154 0 0% 234 125 34.82% NA NA NA 274 1 0.36% 368 169 31.47% NA NA NA 152 0 0% 162 99 37.93% NA NA NA 160 0 0% 205 113 35.53% NA NA NA 123 0 0% 185 100 35.09% NA NA NA 179 0 0% 105 50 32.26% NA NA NA 323 2 0.62% 159 195 55.08% NA NA NA 136 1 0.73% 138 63 31.34% NA NA NA 331 0 0% 473 315 39.97% NA NA NA 185 0 0% 136 91 40.09% ID=COSM1 362277;OC CURENCE NA =1(large_in testine) NA 154 1 0.65% 110 58 34.52% NA NA NA 190 0 0% 191 94 32.98% NA NA NA 148 0 0% 146 65 30.81% NA NA NA 83 0 0% 129 72 35.82% NA NA NA 202 0 0% 51 101 66.45% SLC13A5:NM_00128 4510:exon8:c.C1078 T:p.Q360X,SLC13A5 :NM_001143838:exo n9:c.C1207T:p.Q403 NA X,SLC13A5:NM_001 284509:exon9:c.C11 56T:p.Q386X,SLC13 A5:NM_177550:exon 9:c.C1207T:p.Q403X NA NA 139 0 0% 153 88 36.51% LARP4:NM_0011708 03:exon14:c.C1417T :p.R473X,LARP4:NM _001170808:exon15: c.C1630T:p.R544X,L ARP4:NM_199190:e xon15:c.C1630T:p.R 544X,LARP4:NM_05 2879:exon16:c.C184 3T:p.R615X,LARP4: NM_199188:exon16: c.C1840T:p.R614X RDH5:NM_0011997 71:exon2:c.C148T:p. Q50X,RDH5:NM_00 2905:exon2:c.C148T :p.Q50X GCN1L1:NM_00683 6:exon44:c.G5724A: p.W1908X GTF3C1:NM_00128 6242:exon9:c.C1483 T:p.Q495X,GTF3C1: NM_001520:exon9:c .C1483T:p.Q495X ADAMTS18:NM_199 355:exon14:c.C2041 T:p.R681X Validation Negative METMCC_862 17 7578212 7578212 G A TP53 stopgain Validation Negative METMCC_862 17 10300021 10300021 C T MYH8 stopgain Validation Negative METMCC_862 17 40950567 40950567 G A COA3 stopgain Validation Negative METMCC_862 19 53740656 53740656 G A ZNF677 stopgain Validation Negative METMCC_862 20 31695579 31695579 A T BPIFB4 stopgain Validation Negative METMCC_862 21 17246759 17246759 C T USP25 stopgain Validation Negative METMCC_862 Validation Negative METMCC_862 22 22 40661483 40661483 C T TNRC6B stopgain 50279525 50279525 C T ZBED4 stopgain Validation Negative METMCC_862 X 3242779 3242779 C T MXRA5 stopgain Validation Negative METMCC_862 X 36379480 36379480 C T CXorf30 stopgain Validation Negative METMCC_862 X 48888920 48888920 G A TFE3 stopgain TP53:NM_00112611 5:exon2:c.C241T:p.R 81X,TP53:NM_0011 26116:exon2:c.C241 T:p.R81X,TP53:NM_ 001126117:exon2:c. C241T:p.R81X,TP53 :NM_001276697:exo n2:c.C160T:p.R54X, TP53:NM_00127669 8:exon2:c.C160T:p.R 54X,TP53:NM_0012 76699:exon2:c.C160 T:p.R54X,TP53:NM_ 001126118:exon5:c. C520T:p.R174X,TP5 3:NM_000546:exon6 :c.C637T:p.R213X,T P53:NM_001126112: exon6:c.C637T:p.R2 13X,TP53:NM_0011 26113:exon6:c.C637 T:p.R213X,TP53:NM _001126114:exon6:c .C637T:p.R213X,TP 53:NM_001276695:e xon6:c.C520T:p.R17 4X,TP53:NM_00127 6696:exon6:c.C520T MYH8:NM_002472:e xon32:c.G4377A:p. W1459X COA3:NM_0010404 31:exon1:c.C133T:p. Q45X ZNF677:NM_182609 :exon5:c.C1324T:p. Q442X BPIFB4:NM_182519: exon15:c.A1774T:p. K592X USP25:NM_013396: exon22:c.C2713T:p. Q905X,USP25:NM_0 01283042:exon23:c. C2809T:p.Q937X,US P25:NM_001283041: exon24:c.C2923T:p. Q975X TNRC6B:NM_00116 2501:exon5:c.C1249 T:p.R417X,TNRC6B: NM_015088:exon5:c .C1249T:p.R417X ZBED4:NM_014838: exon2:c.C2215T:p.Q 739X MXRA5:NM_015419: exon5:c.G947A:p.W 316X CXorf30:NM_001098 843:exon16:c.C1225 T:p.Q409X TFE3:NM_00128214 2:exon9:c.C961T:p.R 321X,TFE3:NM_006 521:exon9:c.C1276T :p.R426X ID=COSM9 9618,COS M1638393, COSM996 16,COSM1 0654,COS M99617,C OSM33783 50,COSM9 9615;OCC URENCE= 11(central_ nervous_sy stem),15(st omach),1(b NA one),3(NS) ,16(upper_ aerodigesti ve_tract),2 4(oesopha gus),13(lun g),1(thyroid ),9(haemat opoietic_a nd_lymphoi d_tissue),3 (soft_tissu e),9(ovary), 6(endomet NA 96 NA NA NA NA NA NA 2 2.04% 126 55 30.39% 288 0 0% 300 169 36.03% NA 189 0 0% 246 140 36.27% NA NA 174 0 0% 269 72 21.11% NA NA NA 243 0 0% 288 128 30.77% NA NA NA 141 0 0% 113 68 37.57% ID=COSM1 651360;OC CURENCE =1(endome NA trium),1(lar ge_intestin e) NA 266 0 0% 320 167 34.29% NA NA NA 250 0 0% 311 192 38.17% NA NA NA 297 0 0% 254 142 35.86% NA NA NA 93 0 0% 86 41 32.28% NA NA NA 73 0 0% 94 76 44.71% Validation Negative METMCC_862 7 100364255 100364256 CC TT ZAN unknown UNKNOWN NA NA NA 63 0 0% 92 52 36.11% Validation Negative METMCC_862 3 12232060 G A SYN2 unknown UNKNOWN NA NA NA 140 0 0% 153 82 34.89% Validation Negative METMCC_862 5 135510241 135510241 C T SMAD5 unknown UNKNOWN NA NA NA 300 0 0% 239 171 41.71% Validation Negative METMCC_862 6 82925958 82925958 G A IBTK unknown UNKNOWN NA NA NA 70 0 0% 34 24 41.38% Validation Negative METMCC_862 10 96602719 96602719 C T CYP2C19 unknown UNKNOWN NA NA NA 247 0 0% 276 187 40.39% Validation Negative METMCC_862 12 133660106 133660106 C T ZNF140 unknown UNKNOWN NA NA NA 113 0 0% 90 59 39.60% Validation Negative METMCC_862 15 50906443 50906443 T A TRPM7 unknown UNKNOWN NA NA NA 184 0 0% 134 102 43.22% Validation Negative METMCC_862 17 43196366 43196366 G A PLCD3 unknown UNKNOWN NA NA NA 160 1 0.62% 248 168 40.38% CPTP CPTP:NM_00102988 nonsynonymo 5:exon3:c.G585T:p. NA us SNV Q195H NA NA 56 1 1.75% 253 177 41.16% Validation positive METMCC_682 1 12232060 1263083 1263083 G T Validation positive METMCC_682 Validation positive METMCC_682 11 1017112 Validation positive METMCC_682 12 Validation positive METMCC_682 Validation positive METMCC_682 Validation positive Validation positive Validation positive G PIK3CA 1017112 G C MUC6 7045900 7045900 G C ATN1 15 89753953 89753953 A T RLBP1 21 34925688 34925688 T C SON METMCC_682 X 39933337 39933337 C T BCOR METMCC_682 X 70342633 70342633 G A MED12 T NOTCH2:NM_00120 0001:exon1:c.G61A: nonsynonymo NOTCH2 p.A21T,NOTCH2:NM us SNV _024408:exon1:c.G6 1A:p.A21T ID=COSM1 600651;OC CURENCE =1(thyroid), NA 3(breast),1 3(urinary_tr act),2(liver) rs139076 095 22 0 ID=COSM2 46074;OC CURENCE =1(lung),2( NS),1(oeso NA phagus),1( urinary_tra ct),2(prosta te),1(ovary) rs200646 249 32 0 NA NA NA 101 NA NA NA NA NA NA METMCC_682 3 178916944 178916944 A ID=COSM1 3570,COS M1041463; OCCUREN CE=5(endo metrium),2 PIK3CA:NM_006218 (ovary),2(u nonsynonymo :exon2:c.A331G:p.K rinary_tract NA us SNV 111E ),1(biliary_t ract),5(larg e_intestine ),1(breast), 1(upper_ae rodigestive _tract) 1 120611960 120611960 C MUC6:NM_005961:e nonsynonymo xon31:c.C5689G:p.P us SNV 1897A ATN1:NM_00100702 6:exon5:c.G1470C:p. nonsynonymo Q490H,ATN1:NM_00 us SNV 1940:exon5:c.G1470 C:p.Q490H RLBP1:NM_000326: nonsynonymo exon8:c.T772A:p.L2 us SNV 58M SON:NM_00129141 1:exon3:c.T4151C:p. L1384P,SON:NM_03 nonsynonymo 2195:exon3:c.T4151 us SNV C:p.L1384P,SON:N M_138927:exon3:c.T 4151C:p.L1384P BCOR:NM_0011233 83:exon4:c.G1262A: p.G421D,BCOR:NM _001123384:exon4:c nonsynonymo .G1262A:p.G421D,B us SNV COR:NM_00112338 5:exon4:c.G1262A:p. G421D,BCOR:NM_0 17745:exon4:c.G126 2A:p.G421D MED12:NM_005120: nonsynonymo exon10:c.G1394A:p. us SNV S465N 90 95 51.35% 128 1 0.78% 211 11 4.95% NA NA NA 121 1 0.82% 206 13 5.94% NA NA NA 83 0 0% 160 NA NA NA 96 0 0% 271 NA NA NA 101 0 0% 181 135 42.72% NA NA NA 134 2 1.47% 133 90 40.36% 0% 53 7 11.67% 0% 69 4 2 1.94% 160 186 53.76% 78 0 0% 504 86 14.58% NA 36 0 0% 380 70 15.56% NA NA 60 0 0% 730 137 15.80% NA NA NA 47 0 0% 214 34 13.71% NA NA NA 82 0 0% 874 120 12.07% NA NA NA 38 0 0% 770 27 NCK2:NM_00100472 nonframeshift 0:exon3:c.742_743T NA substitution T,NCK2:NM_003581 :exon4:c.742_743TT NA NA 33 0 0% 389 94 19.46% 1 120612013 120612013 G A Validation positive METMCC_682 8 145059476 145059476 G A PARP10 stopgain Validation Negative METMCC_627 1 44134771 44134772 CC TT KDM4A nonframeshift substitution Validation Negative METMCC_627 1 47276482 47276483 CC TT CYP4B1 nonframeshift substitution Validation Negative METMCC_627 1 157095340 157095341 GG AA ETV3 nonframeshift substitution Validation Negative METMCC_627 1 158637678 158637679 CC TT SPTA1 nonframeshift substitution Validation Negative METMCC_627 1 161197778 161197779 GG AA Validation Negative METMCC_627 2 TOMM40 nonframeshift L substitution 2 106498299 106498300 CC TT NCK2 0% rs777537 32 METMCC_682 Validation Negative METMCC_627 0 NA Validation positive 95542419 TT CA TEKT4 299 NA NOTCH2:NM_00120 0001:exon1:c.C8T:p. nonsynonymo NOTCH2 A3V,NOTCH2:NM_0 us SNV 24408:exon1:c.C8T: p.A3V 95542418 NA nonframeshift substitution PARP10:NM_03278 9:exon5:c.C694T:p. Q232X KDM4A:NM_014663: exon10:c.1164_1165 TT CYP4B1:NM_00077 9:exon2:c.183_184T T,CYP4B1:NM_0010 99772:exon2:c.183_ 184TT ETV3:NM_00114531 2:exon5:c.831_832T T SPTA1:NM_003126: exon15:c.2007_2008 AA TOMM40L:NM_0012 86374:exon4:c.288_ 289AA,TOMM40L:N M_001286373:exon5 :c.381_382AA,TOM M40L:NM_032174:e xon6:c.483_484AA TEKT4:NM_0012865 59:exon6:c.666_667 CA,TEKT4:NM_1447 05:exon6:c.1212_12 13CA 116 42.03% 13 4.58% 5.48% 3.39% Validation Negative METMCC_627 2 135745406 135745407 CC TT MAP3K19 nonframeshift substitution Validation Negative METMCC_627 2 179612500 179612501 CC TT TTN nonframeshift substitution Validation Negative METMCC_627 3 nonframeshift substitution Validation Negative METMCC_627 3 183823750 183823751 CC TT HTR3E nonframeshift substitution Validation Negative METMCC_627 3 185146766 185146767 GG AA MAP3K13 nonframeshift substitution Validation Negative METMCC_627 4 nonframeshift substitution Validation Negative METMCC_627 4 159091427 159091428 GG AA FAM198B nonframeshift substitution Validation Negative METMCC_627 5 109110611 109110612 AG TA MAN2A1 nonframeshift substitution Validation Negative METMCC_627 5 140167741 140167742 CC TT PCDHA1 nonframeshift substitution Validation Negative METMCC_627 5 140501985 140501986 GG AA PCDHB4 nonframeshift substitution Validation Negative METMCC_627 5 141334569 141334570 CC TT PCDH12 nonframeshift substitution Validation Negative METMCC_627 5 160114842 160114843 GG AA ATP10B Validation Negative METMCC_627 MAP3K19:NM_0010 18044:exon5:c.696_ 697AA,MAP3K19:N M_025052:exon7:c.1 035_1036AA TTN:NM_133379:ex on46:c.14626_14627 AA ZNF589:NM_016089 :exon4:c.1012_1013 AA HTR3E:NM_001256 614:exon5:c.996_99 7TT,HTR3E:NM_198 314:exon5:c.918_91 9TT,HTR3E:NM_182 589:exon6:c.963_96 4TT,HTR3E:NM_198 313:exon6:c.873_87 4TT,HTR3E:NM_001 256613:exon7:c.918 _919TT MAP3K13:NM_0047 21:exon2:c.397_398 AA,MAP3K13:NM_0 01242314:exon3:c.3 97_398AA ATP10D:NM_020453 :exon12:c.2132_213 3TT FAM198B:NM_0010 31700:exon3:c.982_ 983TT MAN2A1:NM_00237 2:exon8:c.1319_132 0TA PCDHA1:NM_01890 0:exon1:c.1866_186 7TT,PCDHA1:NM_0 31410:exon1:c.1866 _1867TT PCDHB4:NM_01893 8:exon1:c.405_406A A PCDH12:NM_01658 0:exon1:c.2847_284 8AA NA NA NA 106 0 0% 381 73 16.08% NA NA NA 92 0 0% 336 98 22.58% NA NA NA 82 0 0% 593 118 16.60% NA NA NA 50 0 0% 720 116 13.88% NA NA NA 58 1 1.69% 393 46 10.48% NA NA NA 40 0 0% 362 71 16.40% NA NA NA 36 0 0% 129 38 22.75% NA NA NA 186 0 0% 311 53 14.56% NA NA NA 30 0 0% 487 100 17.04% NA NA NA 51 0 0% 250 64 20.38% NA NA NA 51 0 0% 606 152 20.05% nonframeshift ATP10B:NM_025153 NA substitution :exon5:c.239_240TT NA NA 46 0 0% 482 102 17.47% 5 180419860 180419861 GG AA BTNL3 NA NA 27 0 0% 192 31 13.90% Validation Negative METMCC_627 6 NA NA 61 0 0% 469 114 19.55% Validation Negative METMCC_627 6 108798449 NA NA 93 0 0% 321 56 14.85% Validation Negative METMCC_627 7 30092353 NA NA 48 0 0% 115 16 12.21% Validation Negative METMCC_627 7 93067539 NA NA 93 0 0% 244 64 20.78% Validation Negative METMCC_627 7 142563729 NA NA 24 0 0% 251 120 32.35% Validation Negative METMCC_627 8 12580656 NA NA 86 1 1.15% 349 86 19.77% Validation Negative METMCC_627 8 68007579 NA NA 128 1 0.78% 255 54 17.48% Validation Negative METMCC_627 9 79955378 NA NA 168 0 0% 237 40 14.44% Validation Negative METMCC_627 9 95221919 NA NA 43 0 0% 58 16 21.62% Validation Negative METMCC_627 11 65650979 NA NA 55 0 0% 478 111 18.85% Validation Negative METMCC_627 11 77825433 NA NA 72 0 0% 139 30 17.75% 48310193 47559988 32184757 48310194 GG AA ZNF589 47559989 CC TT ATP10D nonframeshift BTNL3:NM_197975: NA substitution exon2:c.97_98AA NOTCH4:NM_00455 nonframeshift 32184758 CC TG NOTCH4 7:exon11:c.1825_18 NA substitution 26CA LACE1:NM_145315: nonframeshift 108798450 CC TT LACE1 exon10:c.1016_1017 NA substitution TT PLEKHA8:NM_0011 97026:exon7:c.667_ 668AA,PLEKHA8:N nonframeshift 30092354 GG AA PLEKHA8 M_001197027:exon7 NA substitution :c.667_668AA,PLEK HA8:NM_032639:ex on7:c.667_668AA CALCR:NM_001164 738:exon9:c.845_84 6TT,CALCR:NM_001 nonframeshift 93067540 GG AA CALCR 742:exon10:c.845_8 NA substitution 46TT,CALCR:NM_00 1164737:exon12:c.9 47_948TT EPHB6:NM_001280 795:exon5:c.241_24 2TT,EPHB6:NM_004 nonframeshift 142563730 CC TT EPHB6 445:exon6:c.1117_1 NA substitution 118TT,EPHB6:NM_0 01280794:exon8:c.2 41_242TT LONRF1:NM_15227 nonframeshift 12580657 CA AC LONRF1 1:exon12:c.2270_22 NA substitution 71GT nonframeshift CSPP1:NM_024790: 68007580 AC TT CSPP1 NA substitution exon6:c.562_563TT VPS13A:NM_001018 037:exon49:c.6821_ 6822TC,VPS13A:NM _001018038:exon50: nonframeshift c.6938_6939TC,VPS 79955379 CT TC VPS13A NA substitution 13A:NM_015186:exo n50:c.6938_6939TC, VPS13A:NM_033305 :exon50:c.6938_693 9TC nonframeshift ASPN:NM_017680:e 95221920 GG AA ASPN NA substitution xon7:c.939_940TT CTSW:NM_001335: nonframeshift 65650980 GG AA CTSW exon10:c.1021_1022 NA substitution AA ALG8:NM_00100702 nonframeshift 7:exon6:c.551_552A 77825434 CC TT ALG8 NA substitution A,ALG8:NM_024079 :exon6:c.551_552AA 7637805 CC TT CD163 nonframeshift substitution Validation Negative METMCC_627 12 7637804 Validation Negative METMCC_627 12 57865586 57865587 GG AA GLI1 nonframeshift substitution Validation Negative METMCC_627 12 64509616 64509617 GG AA SRGAP1 nonframeshift substitution Validation Negative METMCC_627 14 24459421 24459422 CC TT DHRS4L2 nonframeshift substitution Validation Negative METMCC_627 14 24532572 24532573 CC TT LRRC16B nonframeshift substitution Validation Negative METMCC_627 14 52171536 52171537 CC TT FRMD6 nonframeshift substitution Validation Negative METMCC_627 14 73238594 73238595 CC TT DPF3 nonframeshift substitution Validation Negative METMCC_627 14 95670357 95670358 GG AA CLMN Validation Negative METMCC_627 15 101523818 101523819 CC TT LRRK1 Validation Negative METMCC_627 16 30976749 30976750 CC TT SETD1A Validation Negative METMCC_627 16 83948986 83948987 GG AA MLYCD Validation Negative METMCC_627 16 89775288 89775289 GG AA VPS9D1 Validation Negative METMCC_627 17 1552876 Validation Negative METMCC_627 17 37791916 37791917 CC TT PPP1R1B Validation Negative METMCC_627 17 65955762 65955763 CC TT BPTF Validation Negative METMCC_627 17 78055842 78055843 GG AA CCDC40 Validation Negative METMCC_627 19 4510989 4510990 CC TT PLIN4 Validation Negative METMCC_627 19 9057039 9057040 GG AA MUC16 Validation Negative METMCC_627 19 14165885 14165886 CC TT PALM3 Validation Negative METMCC_627 19 42827822 42827823 GG AA TMEM145 Validation Negative METMCC_627 19 49376920 49376921 CC TT Validation Negative METMCC_627 19 50169088 50169089 GG AA BCL2L12 1552877 CC TT RILP PPP1R15 A CD163:NM_004244: exon11:c.2666_2667 AA,CD163:NM_2034 16:exon11:c.2666_2 667AA GLI1:NM_00116004 5:exon10:c.2679_26 80AA,GLI1:NM_0011 67609:exon11:c.294 0_2941AA,GLI1:NM_ 005269:exon12:c.30 63_3064AA SRGAP1:NM_02076 2:exon18:c.2167_21 68AA DHRS4L2:NM_1980 83:exon2:c.159_160 TT,DHRS4L2:NM_00 1193635:exon4:c.75 _76TT LRRC16B:NM_1383 60:exon31:c.2809_2 810TT FRMD6:NM_001267 046:exon6:c.441_44 2TT,FRMD6:NM_15 2330:exon6:c.417_4 18TT,FRMD6:NM_0 01042481:exon7:c.4 17_418TT DPF3:NM_00128054 2:exon2:c.39_40AA, DPF3:NM_00128054 4:exon2:c.204_205A A,DPF3:NM_012074: exon2:c.39_40AA,D PF3:NM_001280543: exon3:c.69_70AA NA NA NA 39 0 0% 249 59 19.16% NA NA NA 50 0 0% 394 93 19.10% NA NA NA 78 0 0% 277 40 12.62% NA NA NA 49 0 0% 236 41 14.80% NA NA NA 31 0 0% 675 148 17.98% NA NA NA 74 0 0% 330 71 17.71% NA NA NA 48 0 0% 234 43 15.52% nonframeshift CLMN:NM_024734:e NA substitution xon9:c.1328_1329TT NA NA 85 0 0% 728 137 15.84% NA NA 31 0 0% 307 61 16.58% NA NA 31 0 0% 326 86 20.87% NA NA 16 0 0% 237 55 18.84% NA NA 22 0 0% 264 70 20.96% NA NA 27 0 0% 334 93 21.78% NA NA 48 0 0% 275 71 20.52% NA NA 30 0 0% 169 58 25.55% NA NA 12 0 0% 138 39 22.03% NA NA 46 0 0% 678 151 18.21% NA NA 78 0 0% 502 99 16.47% NA NA 35 0 0% 384 93 19.50% NA NA 44 0 0% 504 124 19.75% NA NA 79 0 0% 393 98 19.96% NA NA 72 0 0% 163 48 22.75% nonframeshift LRRK1:NM_024652: NA substitution exon4:c.347_348TT SETD1A:NM_01471 nonframeshift 2:exon7:c.1686_168 NA substitution 7TT MLYCD:NM_012213: nonframeshift exon5:c.1374_1375A NA substitution A VPS9D1:NM_00491 nonframeshift 3:exon13:c.1673_16 NA substitution 74TT nonframeshift RILP:NM_031430:ex NA substitution on1:c.222_223AA PPP1R1B:NM_0012 42464:exon6:c.394_ 395TT,PPP1R1B:N nonframeshift M_032192:exon6:c.5 NA substitution 02_503TT,PPP1R1B :NM_181505:exon6: c.394_395TT BPTF:NM_182641:e xon24:c.8032_8033T nonframeshift T,BPTF:NM_004459: NA substitution exon26:c.7981_7982 TT CCDC40:NM_00124 3342:exon12:c.1974 nonframeshift _1975AA,CCDC40:N NA substitution M_017950:exon12:c. 1974_1975AA PLIN4:NM_0010804 nonframeshift 00:exon3:c.2940_29 NA substitution 41AA MUC16:NM_024690: nonframeshift exon3:c.30406_3040 NA substitution 7TT PALM3:NM_001145 nonframeshift 028:exon6:c.553_55 NA substitution 4AA TMEM145:NM_1736 nonframeshift 33:exon14:c.1282_1 NA substitution 283AA PPP1R15A:NM_014 nonframeshift 330:exon2:c.430_43 NA substitution 1TT BCL2L12:NM_00104 0668:exon1:c.8_9AA ,BCL2L12:NM_0012 82516:exon1:c.8_9A A,BCL2L12:NM_001 282517:exon1:c.8_9 AA,BCL2L12:NM_00 nonframeshift 1282519:exon1:c.8_ NA substitution 9AA,BCL2L12:NM_0 01282520:exon1:c.8 _9AA,BCL2L12:NM_ 001282521:exon1:c. 8_9AA,BCL2L12:NM _138639:exon1:c.8_ 9AA Validation Negative METMCC_627 20 24994679 Validation Negative METMCC_627 22 21988852 Validation Negative METMCC_627 1 3679803 Validation Negative METMCC_627 1 11115918 Validation Negative METMCC_627 1 11139869 Validation Negative METMCC_627 1 12337093 Validation Negative METMCC_627 1 17552611 Validation Negative METMCC_627 1 22161429 24994680 GG AA ACSS1 ACSS1:NM_001252 676:exon8:c.1006_1 007TT,ACSS1:NM_0 01252675:exon9:c.1 nonframeshift 363_1364TT,ACSS1 NA substitution :NM_001252677:exo n9:c.1369_1370TT,A CSS1:NM_032501:e xon9:c.1369_1370TT CCDC116:NM_1526 nonframeshift 21988853 GG AA CCDC116 12:exon3:c.614_615 substitution AA CCDC27:NM_15249 nonsynonymo 3679803 G A CCDC27 2:exon7:c.G1086A:p. us SNV M362I SRM:NM_003132:ex nonsynonymo 11115918 G A SRM on6:c.C685T:p.P229 us SNV S EXOSC10:NM_0010 01998:exon14:c.G16 nonsynonymo 48A:p.G550S,EXOS 11139869 C T EXOSC10 us SNV C10:NM_002685:exo n14:c.G1648A:p.G55 0S VPS13D:NM_01537 8:exon19:c.T3448G: nonsynonymo 12337093 T G VPS13D p.F1150V,VPS13D:N us SNV M_018156:exon19:c. T3448G:p.F1150V PADI1:NM_013358:e nonsynonymo 17552611 C T PADI1 xon6:c.C610T:p.P20 us SNV 4S 22161429 G A HSPG2 HSPG2:NM_001291 860:exon77:c.C1046 nonsynonymo 6T:p.S3489L,HSPG2 us SNV :NM_005529:exon77 :c.C10463T:p.S3488 L SLC30A2:NM_03251 3:exon4:c.G429A:p. M143I,SLC30A2:NM _001004434:exon5:c .G576A:p.M192I ZSCAN20:NM_1452 38:exon6:c.G1357A: p.D453N CSMD2:NM_001281 956:exon29:c.G4657 A:p.G1553R,CSMD2 :NM_052896:exon29 :c.G4537A:p.G1513 R CSMD2:NM_001281 956:exon16:c.C2393 T:p.S798L,CSMD2:N M_052896:exon16:c. C2273T:p.S758L HMGB4:NM_145205 :exon2:c.A141C:p.E4 7D COL8A2:NM_00129 4347:exon4:c.G551A :p.G184E,COL8A2:N M_005202:exon4:c. G746A:p.G249E FHL3:NM_00124387 8:exon5:c.C446T:p.S 149F,FHL3:NM_004 468:exon6:c.C770T: p.S257F ZCCHC11:NM_0010 09881:exon26:c.A40 70T:p.D1357V,ZCCH C11:NM_015269:exo n26:c.A4067T:p.D13 56V FAM159A:NM_0010 42693:exon2:c.G301 A:p.G101S FGGY:NM_0012447 14:exon4:c.G372T:p. L124F,FGGY:NM_00 1113411:exon6:c.G6 36T:p.L212F,FGGY: NM_018291:exon6:c .G636T:p.L212F NA NA 19 0 0% 125 38 23.31% NA NA NA 37 0 0% 391 82 17.34% NA NA NA 13 0 0% 163 26 13.76% NA NA NA 35 0 0% 473 51 NA NA NA 36 0 0% 331 60 15.35% NA NA NA 128 0 0% 500 88 14.97% NA NA NA 41 0 0% 375 72 16.11% ID=COSM1 23667;OC CURENCE NA =1(upper_ aerodigesti ve_tract) NA 38 0 0% 528 82 13.44% NA NA NA 13 0 0% 74 29 28.16% NA NA NA 36 0 0% 655 121 15.59% NA NA NA 40 0 0% 272 55 16.82% NA NA NA 32 0 0% 211 58 21.56% NA NA NA 57 0 0% 451 84 15.70% NA NA NA 22 0 0% 760 150 16.48% NA NA NA 43 0 0% 538 118 17.99% NA NA NA 86 0 0% 355 67 15.88% NA NA NA 96 0 0% 232 116 33.33% 9.73% Validation Negative METMCC_627 1 26369196 26369196 C T SLC30A2 nonsynonymo us SNV Validation Negative METMCC_627 1 33957215 33957215 G A ZSCAN20 nonsynonymo us SNV Validation Negative METMCC_627 1 34112365 34112365 C T CSMD2 nonsynonymo us SNV Validation Negative METMCC_627 1 34192262 34192262 G A CSMD2 nonsynonymo us SNV Validation Negative METMCC_627 1 34329933 34329933 A C HMGB4 nonsynonymo us SNV Validation Negative METMCC_627 1 36564536 36564536 C T COL8A2 nonsynonymo us SNV Validation Negative METMCC_627 1 38463150 38463150 G A FHL3 nonsynonymo us SNV Validation Negative METMCC_627 1 52902519 52902519 T A ZCCHC11 nonsynonymo us SNV Validation Negative METMCC_627 1 53108653 53108653 G A FAM159A nonsynonymo us SNV Validation Negative METMCC_627 1 59922714 59922714 G T FGGY nonsynonymo us SNV NA NA NA 105 0 0% 363 64 14.99% T NFIA NFIA:NM_00113467 3:exon2:c.C421T:p.P 141S,NFIA:NM_0011 45511:exon2:c.C397 nonsynonymo T:p.P133S,NFIA:NM NA us SNV _005595:exon2:c.C4 21T:p.P141S,NFIA:N M_001145512:exon3 :c.C556T:p.P186S NA NA 66 0 0% 579 130 18.34% A CACHD1:NM_00129 3274:exon8:c.G329A nonsynonymo CACHD1 :p.G110E,CACHD1: NA us SNV NM_020925:exon9:c .G1064A:p.G355E NA NA 67 0 0% 1018 224 18.04% Validation Negative METMCC_627 Validation Negative METMCC_627 1 1 61554214 65113544 61554214 C 65113544 G Validation Negative METMCC_627 1 76877768 76877768 G A ST6GALN nonsynonymo AC3 us SNV Validation Negative METMCC_627 1 91182593 91182593 C T BARHL2 nonsynonymo us SNV Validation Negative METMCC_627 1 91851161 91851161 G A HFM1 nonsynonymo us SNV Validation Negative METMCC_627 1 94512490 94512490 C T ABCA4 nonsynonymo us SNV Validation Negative METMCC_627 1 102312519 102312519 G A OLFM3 nonsynonymo us SNV Validation Negative METMCC_627 1 108697685 108697685 G A SLC25A2 nonsynonymo 4 us SNV Validation Negative METMCC_627 1 109792751 109792751 T C CELSR2 nonsynonymo us SNV Validation Negative METMCC_627 1 114523960 114523960 C T OLFML3 nonsynonymo us SNV Validation Negative METMCC_627 1 145663223 145663223 C T RNF115 nonsynonymo us SNV Validation Negative METMCC_627 1 149907596 149907596 C T MTMR11 nonsynonymo us SNV Validation Negative METMCC_627 1 151219435 151219435 C A PIP5K1A nonsynonymo us SNV Validation Negative METMCC_627 1 151314870 151314870 G A RFX5 nonsynonymo us SNV Validation Negative METMCC_627 1 152286641 152286641 C T FLG nonsynonymo us SNV UBE2Q1 Validation Negative METMCC_627 1 154525280 154525280 G A Validation Negative METMCC_627 1 156899446 156899446 G A LRRC71 Validation Negative METMCC_627 1 158225796 158225796 C T CD1A Validation Negative METMCC_627 1 159175732 159175732 G A ACKR1 Validation Negative METMCC_627 1 159410020 159410020 G A OR10J1 Validation Negative METMCC_627 1 162368762 162368762 C T Validation Negative METMCC_627 1 170115303 170115303 G A Validation Negative METMCC_627 1 171679914 171679914 C T Validation Negative METMCC_627 1 173596232 173596232 C T Validation Negative METMCC_627 1 179380357 179380357 G A SH2D1B ST6GALNAC3:NM_0 01160011:exon3:c.G 289A:p.E97K,ST6GA LNAC3:NM_152996: exon3:c.G289A:p.E9 7K BARHL2:NM_02006 3:exon1:c.G160A:p. E54K HFM1:NM_0010179 75:exon5:c.C725T:p. S242L ABCA4:NM_000350: exon19:c.G2903A:p. G968E OLFM3:NM_001288 821:exon1:c.C11T:p. P4L SLC25A24:NM_0133 86:exon6:c.C742T:p. R248C,SLC25A24:N M_213651:exon6:c. C685T:p.R229C CELSR2:NM_00140 8:exon1:c.T50C:p.L1 7P OLFML3:NM_00128 6353:exon3:c.C607T :p.P203S,OLFML3:N M_020190:exon3:c. C790T:p.P264S,OLF ML3:NM_001286352 :exon4:c.C730T:p.P2 44S RNF115:NM_014455 :exon4:c.C284T:p.P9 5L MTMR11:NM_00114 5862:exon3:c.G145A :p.E49K PIP5K1A:NM_00113 5636:exon13:c.C156 0A:p.F520L,PIP5K1 A:NM_001135637:ex on13:c.C1494A:p.F4 98L,PIP5K1A:NM_00 3557:exon14:c.C164 1A:p.F547L,PIP5K1 A:NM_001135638:ex on15:c.C1680A:p.F5 60L RFX5:NM_000449:e xon11:c.C1643T:p.S 548F,RFX5:NM_001 025603:exon11:c.C1 643T:p.S548F FLG:NM_002016:ex on3:c.G721A:p.D241 N NA NA NA 117 0 0% 507 228 31.02% NA NA NA 19 0 0% 507 95 15.78% NA NA NA 160 1 0.62% 602 103 14.61% NA NA NA 32 0 0% 179 29 13.94% NA NA NA 25 0 0% 245 45 15.52% rs200993 204 209 0 0% 532 98 15.56% 21 NA 0.0002 NA NA rs200277 265 19 0 0% 556 NA NA NA 43 0 0% 576 109 15.91% NA NA NA 115 0 0% 279 140 33.41% NA NA NA 32 0 0% 189 35 15.62% NA NA NA 113 0 0% 244 128 34.41% NA NA NA 61 0 0% 739 154 17.25% NA NA NA 88 0 0% 502 85 14.48% ID=COSM4 UBE2Q1:NM_01758 nonsynonymo 23998;OC 2:exon6:c.C746T:p.S NA us SNV CURENCE 249L =1(breast) NA 60 0 0% 278 54 16.27% NA NA 22 0 0% 280 51 15.41% NA NA 102 0 0% 395 77 16.31% NA NA 24 0 0% 448 161 26.44% NA NA 66 0 0% 854 179 17.33% ID=COSM3 SH2D1B:NM_05328 nonsynonymo 18017;OC 2:exon3:c.G314A:p. NA us SNV CURENCE S105N =1(lung) NA 63 0 0% 165 31 15.82% LRRC71:NM_14470 nonsynonymo 2:exon11:c.G1165A: NA us SNV p.E389K ID=COSM8 CD1A:NM_001763:e 3937;OCC nonsynonymo xon3:c.C328T:p.P11 URENCE= us SNV 0S 1(pancreas ) ACKR1:NM_001122 951:exon1:c.G509A: nonsynonymo p.G170E,ACKR1:NM NA us SNV _002036:exon2:c.G5 03A:p.G168E OR10J1:NM_012351 nonsynonymo :exon1:c.G472A:p.G NA us SNV 158R METTL11B:NM_001 METTL11 nonsynonymo 136107:exon1:c.G55 B us SNV A:p.D19N VAMP4:NM_001185 127:exon5:c.G202A: nonsynonymo VAMP4 p.E68K,VAMP4:NM_ us SNV 003762:exon5:c.G20 5A:p.E69K ANKRD45:NM_1984 nonsynonymo ANKRD45 93:exon4:c.G563A:p. us SNV G188E AXDND1:NM_14469 nonsynonymo AXDND1 6:exon12:c.G1186A: us SNV p.E396K 3.64% NA NA NA 65 0 0% 279 52 15.71% NA NA NA 156 0 0% 455 81 15.11% NA NA NA 114 1 0.87% 403 141 25.92% NA NA NA 100 0 269 36 11.80% 0% Validation Negative METMCC_627 1 196918654 196918654 C T CFHR2 ID=COSM1 CFHR2:NM_005666: nonsynonymo 685849;OC exon2:c.C128T:p.S4 NA us SNV CURENCE 3F =2(skin) NA 51 0 0% 82 14 14.58% NR5A2:NM_0012764 64:exon4:c.G884A:p. R295K,NR5A2:NM_0 nonsynonymo 03822:exon4:c.G962 NA us SNV A:p.R321K,NR5A2:N M_205860:exon5:c. G1100A:p.R367K NA NA 114 0 0% 586 89 13.19% NA NA NA 81 0 0% 488 93 16.01% NA NA NA 16 0 0% 111 48 30.19% NA NA NA 28 0 0% 542 88 13.97% NA NA NA 41 0 0% 147 66 30.99% Validation Negative METMCC_627 1 200017936 200017936 G A NR5A2 Validation Negative METMCC_627 1 201178582 201178582 G A IGFN1 Validation Negative METMCC_627 1 201195152 201195152 C T Validation Negative METMCC_627 1 204438767 204438767 G A Validation Negative METMCC_627 1 207532927 207532927 C T Validation Negative METMCC_627 1 222849512 222849512 G A AIDA nonsynonymo AIDA:NM_022831:ex NA us SNV on7:c.C509T:p.T170I NA NA 102 0 0% 195 40 17.02% Validation Negative METMCC_627 1 225490937 225490937 C T DNAH14 DNAH14:NM_00137 nonsynonymo 3:exon55:c.C8432T: NA us SNV p.P2811L NA NA 135 0 0% 313 57 15.41% EPHX1 EPHX1:NM_000120: exon6:c.C851T:p.P2 84L,EPHX1:NM_001 nonsynonymo 136018:exon6:c.C85 NA us SNV 1T:p.P284L,EPHX1: NM_001291163:exo n6:c.C851T:p.P284L NA NA 14 0 0% 146 22 13.10% ID=COSM1 NTPCR:NM_032324: nonsynonymo 689974;OC exon4:c.C439T:p.P1 NA us SNV CURENCE 47S =1(skin) NA 49 0 0% 330 66 16.67% 1 0.76% 199 99 33.22% Validation Negative METMCC_627 1 226027658 226027658 C T IGFN1:NM_0011645 nonsynonymo 86:exon12:c.G4561A us SNV :p.E1521K IGFN1:NM_0011645 nonsynonymo IGFN1 86:exon22:c.C10687 us SNV T:p.P3563S PIK3C2B:NM_00264 nonsynonymo PIK3C2B 6:exon3:c.C164T:p.P us SNV 55L CD55:NM_000574:e nonsynonymo CD55 xon10:c.C1118T:p.T us SNV 373M Validation Negative METMCC_627 1 233105799 233105799 C T NTPCR Validation Negative METMCC_627 1 235311759 235311759 G A RBM34 Validation Negative METMCC_627 1 235506067 235506067 T C Validation Negative METMCC_627 1 236332033 236332033 T A Validation Negative METMCC_627 1 237946990 237946990 G A Validation Negative METMCC_627 1 240256571 240256571 G A Validation Negative METMCC_627 1 247769251 247769251 C T Validation Negative METMCC_627 1 247978357 247978357 C A Validation Negative METMCC_627 1 248570289 248570289 A C Validation Negative METMCC_627 2 9525396 9525396 G A Validation Negative METMCC_627 2 21224809 21224809 A C Validation Negative METMCC_627 2 27884232 27884232 G A Validation Negative METMCC_627 2 48692767 48692767 C T Validation Negative METMCC_627 2 71148237 71148237 G A RBM34:NM_015014: nonsynonymo exon6:c.C661T:p.P2 us SNV 21S GGPS1:NM_001037 nonsynonymo GGPS1 277:exon4:c.T883C: us SNV p.F295L GPR137B:NM_0032 nonsynonymo GPR137B 72:exon2:c.T442A:p. us SNV S148T RYR2:NM_001035:e nonsynonymo RYR2 xon90:c.G11978A:p. us SNV G3993E FMN2:NM_020066:e nonsynonymo FMN2 xon1:c.G1162A:p.G3 us SNV 88R OR2G3:NM_001001 nonsynonymo OR2G3 914:exon1:c.C364T: us SNV p.R122W NA NA NA 130 NA NA NA 96 0 0% 264 34 11.41% NA NA NA 56 0 0% 232 38 14.07% NA NA NA 31 0 0% 89 37 29.37% NA NA NA 12 0 0% 800 116 12.66% NA NA NA 84 0 0% 809 168 17.20% ID=COSM5 OR14A16:NM_0010 nonsynonymo 34411;OC OR14A16 01966:exon1:c.G675 NA us SNV CURENCE T:p.K225N =1(lung) NA 105 0 0% 459 66 12.57% OR2T1:NM_030904: nonsynonymo OR2T1 exon1:c.A994C:p.T3 us SNV 32P ASAP2:NM_0011351 91:exon21:c.G2039A nonsynonymo ASAP2 :p.R680K,ASAP2:N us SNV M_003887:exon21:c. G2039A:p.R680K APOB:NM_000384:e nonsynonymo APOB xon29:c.T13485G:p. us SNV F4495L SUPT7L:NM_001282 729:exon3:c.C38T:p. S13L,SUPT7L:NM_0 01282730:exon3:c.C nonsynonymo 32T:p.S11L,SUPT7L SUPT7L us SNV :NM_001282731:exo n3:c.C32T:p.S11L,S UPT7L:NM_014860: exon3:c.C38T:p.S13 L PPP1R21:NM_0011 35629:exon9:c.C883 T:p.P295S,PPP1R21 nonsynonymo :NM_001193475:exo PPP1R21 us SNV n9:c.C883T:p.P295S ,PPP1R21:NM_1529 94:exon9:c.C883T:p. P295S VAX2:NM_012476:e nonsynonymo VAX2 xon2:c.G257A:p.G86 us SNV E NA NA NA 69 0 0% 746 163 17.93% NA NA NA 38 0 0% 145 30 17.14% NA NA NA 96 0 0% 415 90 17.82% ID=COSM4 19205;OC CURENCE NA =1(urinary_ tract) NA 109 0 0% 404 104 20.47% NA NA NA 109 0 0% 332 57 14.65% NA NA NA 28 0 0% 268 73 21.41% Validation Negative METMCC_627 2 72742224 72742224 C T EXOC6B ID=COSM2 EXOC6B:NM_01518 60730;OC nonsynonymo 9:exon9:c.G947A:p. CURENCE NA us SNV R316Q =2(large_in testine) Validation Negative METMCC_627 2 74492381 74492381 A C SLC4A5 nonsynonymo us SNV Validation Negative METMCC_627 2 74642556 74642556 G A C2orf81 nonsynonymo us SNV Validation Negative METMCC_627 2 84652676 84652676 G A SUCLG1 nonsynonymo us SNV Validation Negative METMCC_627 2 85836100 85836100 C T C2orf68 nonsynonymo us SNV Validation Negative METMCC_627 2 95542416 95542416 A G TEKT4 nonsynonymo us SNV Validation Negative METMCC_627 2 95542476 95542476 C T TEKT4 nonsynonymo us SNV Validation Negative METMCC_627 2 97334780 97334780 G A FER1L5 nonsynonymo us SNV VWA3B Validation Negative METMCC_627 2 98737790 98737790 G A 0% 362 71 16.40% NA NA NA 36 0 0% 518 113 17.91% NA NA NA 73 0 0% 422 84 16.60% NA NA NA 60 0 0% 296 83 21.90% NA NA rs142133 592 42 0 0% 774 32 rs105280 9 31 0 0% 612 79 11.43% NA NA 39 0 0% 569 137 19.41% ID=COSM1 VWA3B:NM_144992 nonsynonymo 65528;OC :exon5:c.G571A:p.E NA us SNV CURENCE 191K =1(breast) NA 56 0 0% 336 67 16.63% Validation Negative METMCC_627 2 101902583 101902583 G A RNF149 nonsynonymo us SNV Validation Negative METMCC_627 2 114257296 114257296 A G FOXD4L1 nonsynonymo us SNV Validation Negative METMCC_627 2 122139853 122139853 G A CLASP1 nonsynonymo us SNV Validation Negative METMCC_627 2 128250909 128250909 C T IWS1 nonsynonymo us SNV Validation Negative METMCC_627 2 128409022 128409022 C T GPR17 nonsynonymo us SNV 2 131414975 131414975 A T POTEJ Validation Negative METMCC_627 2 133542463 133542463 G A NCKAP5 Validation Negative METMCC_627 2 145147226 145147226 T A ZEB2 Validation Negative METMCC_627 2 155555744 155555744 G A KCNJ3 66 16.67% 0 nonsynonymo us SNV Validation Negative METMCC_627 330 41 AFF3 SAP130 0% NA T A 0 NA 2 100210406 100210406 C 2 128757315 128757315 C 107 NA Validation Negative METMCC_627 Validation Negative METMCC_627 SLC4A5:NM_021196 :exon4:c.T412G:p.F1 38V,SLC4A5:NM_13 3478:exon9:c.T412G :p.F138V C2orf81:NM_001145 054:exon4:c.C667T: p.L223F SUCLG1:NM_00384 9:exon8:c.C877T:p.P 293S C2orf68:NM_001013 649:exon4:c.G469A: p.E157K TEKT4:NM_0012865 59:exon6:c.A664G:p. I222V,TEKT4:NM_1 44705:exon6:c.A121 0G:p.I404V TEKT4:NM_0012865 59:exon6:c.C724T:p. R242C,TEKT4:NM_1 44705:exon6:c.C127 0T:p.R424C FER1L5:NM_001293 083:exon17:c.G1268 A:p.G423E NA AFF3:NM_00102510 8:exon14:c.G1792A: p.E598K,AFF3:NM_0 02285:exon14:c.G17 17A:p.E573K RNF149:NM_173647 :exon5:c.C920T:p.P3 07L FOXD4L1:NM_0121 84:exon1:c.A463G:p. I155V CLASP1:NM_01528 2:exon32:c.C3422T: p.P1141L IWS1:NM_017969:e xon9:c.G1877A:p.R6 26K GPR17:NM_001161 417:exon2:c.C713T: p.A238V,GPR17:NM _001161416:exon3:c .C713T:p.A238V,GP R17:NM_005291:exo n3:c.C797T:p.A266V ,GPR17:NM_001161 415:exon4:c.C797T: p.A266V NA NA 0.0002 3.97% NA NA NA 19 0 0% 184 39 17.49% NA NA NA 143 0 0% 190 35 15.56% NA NA rs199845 792 13 0 0% 144 21 12.73% NA NA NA 55 0 0% 248 44 15.07% NA NA NA 89 0 0% 191 38 16.59% NA NA NA 46 0 0% 696 150 17.73% SAP130:NM_001145 928:exon10:c.G1291 nonsynonymo T:p.A431S,SAP130: NA us SNV NM_024545:exon10: c.G1291T:p.A431S NA NA 27 0 0% 101 16 13.68% rs485016 8 22 0 0% 195 18 POTEJ:NM_001277 nonsynonymo 083:exon15:c.A2642 us SNV T:p.Y881F NCKAP5:NM_20736 nonsynonymo 3:exon14:c.C1921T: us SNV p.P641S ZEB2:NM_00117165 3:exon9:c.A3365T:p. nonsynonymo D1122V,ZEB2:NM_0 us SNV 14795:exon10:c.A34 37T:p.D1146V KCNJ3:NM_0012605 08:exon1:c.G457A:p. D153N,KCNJ3:NM_0 01260509:exon1:c.G nonsynonymo 457A:p.D153N,KCNJ us SNV 3:NM_001260510:ex on1:c.G457A:p.D153 N,KCNJ3:NM_00223 9:exon1:c.G457A:p. D153N NA 0.047724 8.45% NA NA NA 65 0 0% 525 113 17.71% NA NA NA 80 0 0% 847 191 18.40% NA NA NA 36 0 0% 611 117 16.07% Validation Negative METMCC_627 2 160994710 160994710 C T ITGB6 Validation Negative METMCC_627 2 164467141 164467141 G A FIGN Validation Negative METMCC_627 2 165586437 165586437 G A COBLL1 Validation Negative METMCC_627 2 165947744 165947744 C T SCN3A Validation Negative METMCC_627 2 165949001 165949001 T C SCN3A Validation Negative METMCC_627 2 165995989 165995989 C T SCN3A Validation Negative METMCC_627 2 168099892 168099892 G A XIRP2 Validation Negative METMCC_627 2 170063446 170063446 G A LRP2 Validation Negative METMCC_627 2 179439140 179439140 C T TTN ITGB6:NM_0012823 54:exon7:c.G823A:p. E275K,ITGB6:NM_0 01282388:exon8:c.G 982A:p.E328K,ITGB 6:NM_001282390:ex on8:c.G694A:p.E232 K,ITGB6:NM_00088 nonsynonymo 8:exon9:c.G1108A:p. NA us SNV E370K,ITGB6:NM_0 01282355:exon9:c.G 1108A:p.E370K,ITG B6:NM_001282389:e xon9:c.G889A:p.E29 7K,ITGB6:NM_0012 82353:exon10:c.G11 08A:p.E370K NA NA 79 0 0% 165 28 14.51% NA NA NA 64 0 0% 674 146 17.80% NA NA NA 144 0 0% 260 53 16.93% NA NA NA 40 0 0% 124 43 25.75% NA NA NA 59 0 0% 158 36 18.56% NA NA NA 101 0 0% 270 56 17.18% NA NA NA 70 0 0% 390 85 17.89% NA NA NA 64 0 0% 649 137 17.43% TTN:NM_003319:ex on154:c.G44524A:p. A14842T,TTN:NM_1 33432:exon155:c.G4 4899A:p.A14967T,T TN:NM_133437:exon 155:c.G45100A:p.A1 nonsynonymo 5034T,TTN:NM_133 NA us SNV 378:exon275:c.G640 15A:p.A21339T,TTN :NM_001256850:exo n276:c.G66796A:p.A 22266T,TTN:NM_00 1267550:exon326:c. G71719A:p.A23907T NA NA 99 0 0% 615 149 19.50% NA NA NA 196 0 0% 591 112 15.93% NA NA NA 91 0 0% 290 61 17.38% NA NA NA 25 0 0% 551 106 16.13% NA NA NA 106 0 0% 377 78 17.14% FIGN:NM_018086:ex nonsynonymo on3:c.C1201T:p.P40 us SNV 1S COBLL1:NM_00127 8461:exon3:c.C419T :p.P140L,COBLL1:N M_014900:exon3:c. nonsynonymo C419T:p.P140L,COB us SNV LL1:NM_001278460: exon4:c.C557T:p.P1 86L,COBLL1:NM_00 1278458:exon5:c.C5 78T:p.P193L SCN3A:NM_001081 676:exon28:c.G4772 A:p.G1591E,SCN3A: nonsynonymo NM_001081677:exo us SNV n28:c.G4772A:p.G15 91E,SCN3A:NM_006 922:exon28:c.G4919 A:p.G1640E SCN3A:NM_001081 676:exon27:c.A4423 G:p.T1475A,SCN3A: nonsynonymo NM_001081677:exo us SNV n27:c.A4423G:p.T14 75A,SCN3A:NM_006 922:exon27:c.A4570 G:p.T1524A SCN3A:NM_001081 676:exon14:c.G2002 A:p.E668K,SCN3A:N nonsynonymo M_001081677:exon1 us SNV 4:c.G2002A:p.E668K ,SCN3A:NM_006922 :exon14:c.G2149A:p. E717K XIRP2:NM_0011991 44:exon7:c.G1324A: nonsynonymo p.D442N,XIRP2:NM_ us SNV 152381:exon9:c.G19 90A:p.D664N LRP2:NM_004525:e nonsynonymo xon39:c.C6784T:p.R us SNV 2262C Validation Negative METMCC_627 2 179535837 179535837 C T TTN nonsynonymo us SNV Validation Negative METMCC_627 2 179577272 179577272 C T TTN nonsynonymo us SNV Validation Negative METMCC_627 2 186603470 186603470 G A FSIP2 nonsynonymo us SNV Validation Negative METMCC_627 2 186660565 186660565 G A FSIP2 nonsynonymo us SNV TTN:NM_133378:ex on151:c.G31385A:p. R10462Q,TTN:NM_0 01256850:exon152:c .G34166A:p.R11389 Q,TTN:NM_0012675 50:exon156:c.G3528 8A:p.R11763Q TTN:NM_133378:ex on92:c.G23645A:p.G 7882E,TTN:NM_001 256850:exon93:c.G2 6426A:p.G8809E,TT N:NM_001267550:ex on95:c.G27377A:p.G 9126E FSIP2:NM_173651:e xon1:c.G116A:p.G39 E FSIP2:NM_173651:e xon16:c.G8969A:p.G 2990E Validation Negative METMCC_627 2 197194356 197194356 C T Validation Negative METMCC_627 2 203054971 203054971 G A Validation Negative METMCC_627 2 207173730 207173730 C T Validation Negative METMCC_627 2 209189661 209189661 G T Validation Negative METMCC_627 2 212488760 212488760 G C Validation Negative METMCC_627 2 219486292 219486292 G A Validation Negative METMCC_627 2 219604884 219604884 G A Validation Negative METMCC_627 2 219610425 219610425 C T Validation Negative METMCC_627 2 219646970 219646970 C T Validation Negative METMCC_627 2 220500461 220500461 C T Validation Negative METMCC_627 2 227906897 227906897 C T Validation Negative METMCC_627 2 228145692 228145692 C T Validation Negative METMCC_627 2 228884453 228884453 C T HECW2:NM_020760 nonsynonymo :exon5:c.G514A:p.E us SNV 172K KIAA2012:NM_0012 nonsynonymo KIAA2012 77372:exon19:c.G26 us SNV 71A:p.E891K ZDBF2:NM_020923: exon5:c.C4478T:p.P nonsynonymo ZDBF2 1493L,ZDBF2:NM_0 us SNV 01285549:exon7:c.C 4472T:p.P1491L PIKFYVE:NM_01504 nonsynonymo PIKFYVE 0:exon19:c.G2358T: us SNV p.M786I ERBB4:NM_001042 599:exon18:c.C2089 nonsynonymo ERBB4 G:p.P697A,ERBB4:N us SNV M_005235:exon18:c. C2089G:p.P697A PLCD4:NM_032726: nonsynonymo PLCD4 exon5:c.G510A:p.M1 us SNV 70I TTLL4:NM_014640:e nonsynonymo TTLL4 xon4:c.G1591A:p.E5 us SNV 31K TTLL4:NM_014640:e nonsynonymo TTLL4 xon7:c.C1798T:p.P6 us SNV 00S CYP27A1:NM_0007 nonsynonymo CYP27A1 84:exon1:c.C65T:p.P us SNV 22L SLC4A3:NM_005070 :exon14:c.C2039T:p. nonsynonymo SLC4A3 S680L,SLC4A3:NM_ us SNV 201574:exon14:c.C2 120T:p.S707L COL4A4:NM_00009 nonsynonymo COL4A4 2:exon37:c.G3472A: us SNV p.D1158N COL4A3:NM_00009 nonsynonymo COL4A3 1:exon31:c.C2458T: us SNV p.P820S HECW2 SPHKAP Validation Negative METMCC_627 2 230231820 230231820 G T DNER Validation Negative METMCC_627 2 231906013 231906013 G A C2orf72 Validation Negative METMCC_627 2 233386097 233386097 G A PRSS56 NA NA NA 150 0 0% 488 91 15.72% NA NA NA 64 0 0% 219 52 19.19% NA NA NA 116 0 0% 386 92 19.25% NA NA NA 200 0 0% 365 63 14.72% NA NA NA 49 0 0% 209 36 14.69% NA NA NA 58 0 0% 482 110 18.58% NA NA NA 24 0 0% 149 43 22.40% NA NA NA 18 0 0% 124 34 21.52% NA NA NA 13 0 0% 178 38 17.59% NA NA rs142497 429 28 0 0% 312 67 17.68% NA NA NA 49 0 0% 367 65 15.05% NA NA NA 42 0 0% 225 51 18.48% SPHKAP:NM_00114 2644:exon7:c.G1117 nonsynonymo A:p.D373N,SPHKAP NA us SNV :NM_030623:exon7: c.G1117A:p.D373N NA NA 60 0 0% 350 74 17.45% NA NA 51 0 0% 379 69 15.40% NA NA 59 1 1.67% 541 111 17.02% NA NA 32 0 0% 508 115 18.46% rs116619 489 98 0 0% 226 47 17.22% DNER:NM_139072:e nonsynonymo xon12:c.C1871A:p.S NA us SNV 624Y C2orf72:NM_001144 nonsynonymo 994:exon2:c.G637A: NA us SNV p.E213K PRSS56:NM_00119 nonsynonymo 5129:exon2:c.G164A NA us SNV :p.R55Q Validation Negative METMCC_627 2 237402431 237402431 C T IQCA1 IQCA1:NM_0012705 84:exon3:c.G436A:p. G146R,IQCA1:NM_0 nonsynonymo 01270585:exon3:c.G NA us SNV 457A:p.G153R,IQCA 1:NM_024726:exon3 :c.G436A:p.G146R Validation Negative METMCC_627 3 A KCNH8 KCNH8:NM_144633: nonsynonymo exon5:c.G811A:p.D2 NA us SNV 71N NA NA 147 0 0% 394 70 15.09% RBMS3 RBMS3:NM_001003 792:exon5:c.G409A: p.D137N,RBMS3:NM _001003793:exon5:c .G412A:p.D138N,RB nonsynonymo MS3:NM_001177711 NA us SNV :exon5:c.G412A:p.D 138N,RBMS3:NM_0 01177712:exon5:c.G 412A:p.D138N,RBM S3:NM_014483:exon 5:c.G412A:p.D138N NA NA 117 0 0% 326 52 13.76% NA NA NA 93 0 0% 527 128 19.54% NA NA NA 37 0 0% 493 109 18.11% NA NA NA 107 0 0% 233 52 18.25% NA NA NA 98 0 0% 575 129 18.32% NA NA NA 71 0 0% 318 67 17.40% Validation Negative METMCC_627 3 19389457 29781223 19389457 G 29781223 G A Validation Negative METMCC_627 3 46399575 46399575 C T CCR2 nonsynonymo us SNV Validation Negative METMCC_627 3 48677396 48677396 G A CELSR3 nonsynonymo us SNV Validation Negative METMCC_627 3 50140591 50140591 T C RBM5 nonsynonymo us SNV Validation Negative METMCC_627 3 65346897 65346897 C T MAGI1 nonsynonymo us SNV Validation Negative METMCC_627 3 72427548 72427548 A C RYBP nonsynonymo us SNV CCR2:NM_0011230 41:exon2:c.C557T:p. S186F,CCR2:NM_00 1123396:exon2:c.C5 57T:p.S186F CELSR3:NM_00140 7:exon34:c.C9622T: p.P3208S RBM5:NM_005778:e xon7:c.T559C:p.C18 7R MAGI1:NM_0010330 57:exon22:c.G3611A :p.G1204E,MAGI1:N M_004742:exon23:c. G3698A:p.G1233E, MAGI1:NM_015520: exon23:c.G3695A:p. G1232E RYBP:NM_012234:e xon4:c.T645G:p.D21 5E 0.003594 Validation Negative METMCC_627 3 85851293 85851293 C T CADM2 Validation Negative METMCC_627 3 88040090 88040090 C T HTR1F Validation Negative METMCC_627 3 89259071 89259071 A C EPHA3 Validation Negative METMCC_627 3 98002410 98002410 C T OR5H2 Validation Negative METMCC_627 3 99569009 99569009 C T FILIP1L Validation Negative METMCC_627 3 105586372 105586372 G A CBLB Validation Negative METMCC_627 3 113890769 113890769 C T Validation Negative METMCC_627 3 121415724 121415724 C G Validation Negative METMCC_627 3 124487931 124487931 G C Validation Negative METMCC_627 3 124951508 124951508 G A Validation Negative METMCC_627 3 130698114 130698114 C T Validation Negative METMCC_627 3 133666244 133666244 C T Validation Negative METMCC_627 3 136574218 136574218 C T Validation Negative METMCC_627 3 136699344 136699344 C T CADM2:NM_001167 674:exon2:c.C158T: p.S53F,CADM2:NM_ nonsynonymo 153184:exon2:c.C16 NA us SNV 4T:p.S55F,CADM2:N M_001167675:exon3 :c.C185T:p.S62F HTR1F:NM_000866: nonsynonymo exon2:c.C191T:p.S6 NA us SNV 4F EPHA3:NM_005233: exon3:c.A215C:p.N7 nonsynonymo 2T,EPHA3:NM_1826 NA us SNV 44:exon3:c.A215C:p. N72T OR5H2:NM_001005 nonsynonymo 482:exon1:c.C679T: NA us SNV p.L227F FILIP1L:NM_001282 794:exon2:c.G791A: p.R264Q,FILIP1L:N M_014890:exon2:c. G791A:p.R264Q,FILI nonsynonymo P1L:NM_001282793: NA us SNV exon3:c.G239A:p.R8 0Q,FILIP1L:NM_001 042459:exon5:c.G15 11A:p.R504Q,FILIP1 L:NM_182909:exon5 :c.G1511A:p.R504Q nonsynonymo CBLB:NM_170662:e NA us SNV xon2:c.C50T:p.P17L DRD3:NM_000796:e xon2:c.G71A:p.S24N ,DRD3:NM_033663: exon2:c.G71A:p.S24 nonsynonymo DRD3 N,DRD3:NM_001282 NA us SNV 563:exon3:c.G71A:p. S24N,DRD3:NM_00 1290809:exon3:c.G7 1A:p.S24N GOLGB1:NM_00125 6488:exon12:c.G340 6C:p.D1136H,GOLG B1:NM_001256486:e xon13:c.G3646C:p.D nonsynonymo GOLGB1 1216H,GOLGB1:NM NA us SNV _001256487:exon13: c.G3529C:p.D1177H ,GOLGB1:NM_0044 87:exon13:c.G3631C :p.D1211H ITGB5:NM_002213:e nonsynonymo ITGB5 xon12:c.C1946G:p.S NA us SNV 649C ZNF148:NM_021964 nonsynonymo ZNF148 :exon9:c.C2062T:p.P NA us SNV 688S ATP2C1:NM_001199 182:exon17:c.C1577 T:p.P526L,ATP2C1: NM_001001486:exo n18:c.C1592T:p.P53 1L,ATP2C1:NM_001 001487:exon18:c.C1 592T:p.P531L,ATP2 C1:NM_001199180:e xon18:c.C1694T:p.P 565L,ATP2C1:NM_0 01199181:exon18:c. C1694T:p.P565L,AT P2C1:NM_00119918 nonsynonymo ATP2C1 3:exon18:c.C1544T: NA us SNV p.P515L,ATP2C1:N M_001199184:exon1 8:c.C1544T:p.P515L ,ATP2C1:NM_00119 9185:exon18:c.C159 2T:p.P531L,ATP2C1 :NM_014382:exon18 :c.C1592T:p.P531L, ATP2C1:NM_001001 485:exon19:c.C1592 T:p.P531L,ATP2C1: NM_001199179:exo n19:c.C1592T:p.P53 1L SLCO2A1:NM_0056 nonsynonymo SLCO2A1 30:exon9:c.G1151A: NA us SNV p.G384E SLC35G2:NM_0010 97599:exon2:c.C916 T:p.L306F,SLC35G2 nonsynonymo :NM_001097600:exo SLC35G2 NA us SNV n2:c.C916T:p.L306F, SLC35G2:NM_0252 46:exon2:c.C916T:p. L306F IL20RB:NM_144717: nonsynonymo IL20RB exon2:c.C125T:p.S4 NA us SNV 2F NA NA 109 0 0% 158 45 22.17% NA NA 86 0 0% 364 82 18.39% NA NA 107 0 0% 310 97 23.83% NA NA 126 0 0% 402 64 13.73% NA NA 112 0 0% 284 46 13.94% NA NA 162 0 0% 548 113 17.10% NA NA 40 0 0% 436 83 15.99% NA NA 117 0 0% 409 162 28.37% NA NA 35 0 0% 291 66 18.49% NA NA 70 0 0% 530 87 14.10% NA NA 144 0 0% 311 56 15.26% NA NA 30 0 0% 164 44 21.15% NA NA 115 0 0% 621 105 14.46% NA NA 68 0 0% 606 94 13.43% Validation Negative METMCC_627 3 150421606 150421606 T A ERICH6 Validation Negative METMCC_627 3 150460073 150460073 T A SIAH2 Validation Negative METMCC_627 3 160148859 160148859 C T SMC4 Validation Negative METMCC_627 3 160156947 160156947 T G TRIM59 Validation Negative METMCC_627 3 164750437 164750437 C T SI Validation Negative METMCC_627 3 171406513 171406513 C T PLD1 Validation Negative METMCC_627 3 179287985 179287985 C T ACTL6A Validation Negative METMCC_627 3 195475813 195475813 C T MUC4 Validation Negative METMCC_627 3 195498539 195498539 C T MUC4 Validation Negative METMCC_627 4 9889257 9889257 G A Validation Negative METMCC_627 4 25351184 25351184 C T Validation Negative METMCC_627 4 41035256 41035256 G A Validation Negative METMCC_627 4 52943042 52943042 C T Validation Negative METMCC_627 4 66467500 66467500 C T Validation Negative METMCC_627 4 70355260 70355260 C T Validation Negative METMCC_627 4 70620450 70620450 C T Validation Negative METMCC_627 4 71275418 71275418 C T Validation Negative METMCC_627 4 72635069 72635069 C T SLC2A9 ERICH6:NM_152394 nonsynonymo :exon1:c.A80T:p.E27 us SNV V SIAH2:NM_005067:e nonsynonymo xon2:c.A830T:p.E27 us SNV 7V SMC4:NM_005496:e xon19:c.C2980T:p.L 994F,SMC4:NM_001 nonsynonymo 002800:exon20:c.C2 us SNV 980T:p.L994F,SMC4 :NM_001288753:exo n20:c.C2905T:p.L96 9F TRIM59:NM_173084 nonsynonymo :exon3:c.A25C:p.T9 us SNV P SI:NM_001041:exon nonsynonymo 24:c.G2609A:p.G870 us SNV E PLD1:NM_00113008 1:exon14:c.G1492A: nonsynonymo p.G498S,PLD1:NM_ us SNV 002662:exon14:c.G1 492A:p.G498S ACTL6A:NM_004301 :exon3:c.C233T:p.P7 8L,ACTL6A:NM_177 nonsynonymo 989:exon3:c.C107T: us SNV p.P36L,ACTL6A:NM _178042:exon3:c.C1 07T:p.P36L MUC4:NM_138297:e xon22:c.G3133A:p.G 1045R,MUC4:NM_0 nonsynonymo 04532:exon23:c.G32 us SNV 86A:p.G1096R,MUC 4:NM_018406:exon2 4:c.G15994A:p.G533 2R MUC4:NM_138297:e xon3:c.G365A:p.G12 2E,MUC4:NM_00453 nonsynonymo 2:exon4:c.G518A:p. us SNV G173E,MUC4:NM_0 18406:exon5:c.G132 26A:p.G4409E NA NA rs140978 408 42 0 0% 335 NA NA NA 78 0 0% 733 133 15.36% NA NA NA 210 0 0% 401 55 12.06% NA NA NA 78 0 0% 117 17 12.69% NA NA NA 156 0 0% 329 53 13.87% NA NA NA 56 0 0% 278 30 ID=COSM1 283239;OC CURENCE NA =1(autono mic_gangli a) NA 151 0 0% 499 77 13.37% NA NA NA 17 0 0% 138 27 16.36% NA NA NA 23 0 0% 141 31 18.02% SLC2A9:NM_020041 :exon10:c.C1225T:p. nonsynonymo P409S,SLC2A9:NM_ NA us SNV 001001290:exon11:c .C1138T:p.P380S NA NA 14 0 0% 164 30 15.46% NA NA NA 111 1 0.89% 254 78 23.49% NA NA NA 127 2 1.55% 224 48 17.65% NA NA NA 10 0 0% 235 50 17.54% NA NA NA 52 0 0% 392 87 18.16% NA NA NA 90 0 0% 135 28 17.18% NA NA rs370321 903 191 1 0.52% 285 55 16.18% NA NA NA 109 0 0% 913 189 17.15% NA NA NA 102 0 0% 314 88 21.89% ZCCHC4:NM_02493 nonsynonymo ZCCHC4 6:exon7:c.C830T:p.P us SNV 277L APBB2:NM_0011660 50:exon5:c.C16T:p.P 6S,APBB2:NM_0043 nonsynonymo APBB2 07:exon5:c.C16T:p.P us SNV 6S,APBB2:NM_1730 75:exon5:c.C16T:p.P 6S SPATA18:NM_0012 97608:exon6:c.C760 nonsynonymo SPATA18 T:p.P254S,SPATA18 us SNV :NM_145263:exon7: c.C856T:p.P286S EPHA5:NM_001281 765:exon3:c.G769A: p.E257K,EPHA5:NM _001281766:exon3:c .G769A:p.E257K,EP nonsynonymo HA5:NM_001281767 EPHA5 us SNV :exon3:c.G769A:p.E 257K,EPHA5:NM_00 4439:exon3:c.G769A :p.E257K,EPHA5:N M_182472:exon3:c. G769A:p.E257K UGT2B4:NM_00129 7615:exon3:c.G899A :p.G300E,UGT2B4:N nonsynonymo M_021139:exon3:c. UGT2B4 us SNV G899A:p.G300E,UG T2B4:NM_00129761 6:exon4:c.G491A:p. G164E SULT1B1:NM_01446 nonsynonymo SULT1B1 5:exon3:c.G215A:p. us SNV R72Q PROL1:NM_021225: nonsynonymo PROL1 exon3:c.C373T:p.P1 us SNV 25S GC:NM_000583:exo n2:c.G107A:p.G36E, GC:NM_001204306: nonsynonymo GC exon3:c.G107A:p.G3 us SNV 6E,GC:NM_0012043 07:exon3:c.G164A:p. G55E 16 4.56% 9.74% Validation Negative METMCC_627 4 77476861 77476861 G A Validation Negative METMCC_627 4 80246434 80246434 C T Validation Negative METMCC_627 4 83350647 83350647 G A Validation Negative METMCC_627 4 85696051 85696051 G A SHROOM3:NM_020 SHROOM nonsynonymo 859:exon2:c.G268A: 3 us SNV p.E90K NAA11:NM_032693: nonsynonymo NAA11 exon1:c.G598A:p.E2 us SNV 00K HNRNPDL:NM_0012 07000:exon1:c.C197 HNRNPD nonsynonymo T:p.P66L,HNRNPDL: L us SNV NM_031372:exon1:c .C197T:p.P66L WDFY3:NM_014991 nonsynonymo WDFY3 :exon29:c.C4676T:p. us SNV S1559F Validation Negative METMCC_627 4 91229946 91229946 C T CCSER1 Validation Negative METMCC_627 4 96256578 96256578 C T UNC5C Validation Negative METMCC_627 4 106613207 106613207 C T Validation Negative METMCC_627 4 119161724 119161724 T C Validation Negative METMCC_627 4 121958051 121958051 C T Validation Negative METMCC_627 4 146576536 146576536 C T Validation Negative METMCC_627 4 151791707 151791707 G A Validation Negative METMCC_627 4 153249393 153249393 G T Validation Negative METMCC_627 4 159165493 159165493 G A 4 162697219 162697219 C A FSTL5 Validation Negative METMCC_627 4 187153320 187153320 G A KLKB1 Validation Negative METMCC_627 5 1244799 1244799 C T Validation Negative METMCC_627 5 33616049 33616049 T C Validation Negative METMCC_627 5 35033656 35033656 C T Validation Negative METMCC_627 5 40947765 40947765 C T C7 Validation Negative METMCC_627 5 63256469 63256469 G A HTR1A Validation Negative METMCC_627 5 64629875 64629875 T C Validation Negative METMCC_627 5 73154021 73154021 G A Validation Negative METMCC_627 5 74450061 74450061 C T NA NA 26 0 0% 250 67 21.14% NA NA NA 43 0 0% 849 181 17.57% NA NA NA 28 0 0% 277 65 19.01% NA NA NA 123 0 0% 367 65 15.05% rs199696 987 111 0 0% 483 108 18.27% ID=COSM1 739019,CO SM173902 CCSER1:NM_00114 0,COSM17 5065:exon2:c.C511T nonsynonymo 39018;OC :p.R171C,CCSER1: NA us SNV CURENCE NM_207491:exon2:c =1(haemat .C511T:p.R171C opoietic_a nd_lymphoi d_tissue) UNC5C:NM_003728: nonsynonymo exon2:c.G329A:p.R1 us SNV 10K INTS12:NM_001142 471:exon5:c.G583A: nonsynonymo INTS12 p.V195M,INTS12:NM us SNV _020395:exon6:c.G5 83A:p.V195M NDST3:NM_004784: nonsynonymo NDST3 exon11:c.T2164C:p. us SNV Y722H NDNF:NM_024574:e nonsynonymo NDNF xon4:c.G1075A:p.G3 us SNV 59R MMAA:NM_172250: nonsynonymo MMAA exon7:c.C1207T:p.P us SNV 403S LRBA:NM_00119928 2:exon20:c.C2419T: nonsynonymo LRBA p.P807S,LRBA:NM_ us SNV 006726:exon20:c.C2 419T:p.P807S FBXW7:NM_001013 415:exon8:c.C1031A :p.S344Y,FBXW7:N nonsynonymo M_018315:exon8:c. FBXW7 us SNV C1145A:p.S382Y,FB XW7:NM_033632:ex on9:c.C1385A:p.S46 2Y TMEM144:NM_0183 nonsynonymo TMEM144 42:exon12:c.G946A: us SNV p.E316K Validation Negative METMCC_627 NA NA NA NA 99 0 0% 312 59 15.90% NA NA NA 99 0 0% 276 53 16.11% NA NA NA 92 0 0% 298 76 20.32% NA NA NA 77 0 0% 383 117 23.40% NA NA NA 83 0 0% 307 70 18.57% NA NA NA 241 1 0.41% 304 65 17.62% NA NA NA 145 0 0% 436 94 17.74% NA NA NA 60 0 0% 250 48 16.11% FSTL5:NM_0011284 27:exon5:c.G414T:p. K138N,FSTL5:NM_0 nonsynonymo 01128428:exon5:c.G NA us SNV 414T:p.K138N,FSTL 5:NM_020116:exon5 :c.G417T:p.K139N NA NA 126 0 0% 107 17 13.71% NA NA NA 130 0 0% 321 53 14.17% NA NA NA 19 0 0% 221 56 20.22% NA NA NA 85 0 0% 398 100 20.08% NA NA NA 57 0 0% 225 38 14.45% nonsynonymo C7:NM_000587:exon NA us SNV 8:c.C800T:p.P267L NA NA 112 0 0% 305 72 19.10% NA NA NA 36 0 0% 459 99 17.74% NA NA NA 43 0 0% 106 15 12.40% NA NA NA 47 0 0% 146 36 19.78% NA NA NA 52 0 0% 96 20 17.24% KLKB1:NM_000892: nonsynonymo exon3:c.G98A:p.G33 us SNV D SLC6A18:NM_18263 nonsynonymo SLC6A18 2:exon11:c.C1573T: us SNV p.P525S ADAMTS12:NM_030 ADAMTS nonsynonymo 955:exon15:c.A2272 12 us SNV G:p.I758V AGXT2:NM_031900: nonsynonymo AGXT2 exon6:c.G584A:p.G1 us SNV 95E HTR1A:NM_000524: nonsynonymo exon1:c.C1078T:p.P us SNV 360S ADAMTS6:NM_1979 ADAMTS nonsynonymo 41:exon8:c.A1111G: 6 us SNV p.T371A ARHGEF28:NM_001 244364:exon8:c.G10 85A:p.G362E,ARHG EF28:NM_00108047 ARHGEF2 nonsynonymo 9:exon16:c.G2024A: 8 us SNV p.G675E,ARHGEF28 :NM_001177693:exo n16:c.G2024A:p.G67 5E ANKRD31:NM_0011 nonsynonymo ANKRD31 64443:exon12:c.G18 us SNV 17A:p.R606K PDE8B:NM_001029 851:exon17:c.C2006 T:p.P669L,PDE8B:N M_001029852:exon1 9:c.C2132T:p.P711L ,PDE8B:NM_001029 853:exon19:c.C2237 T:p.P746L,PDE8B:N M_001029854:exon1 9:c.C2156T:p.P719L ,PDE8B:NM_003719 :exon20:c.C2297T:p. P766L MSH3:NM_002439:e xon1:c.G169C:p.A57 P VCAN:NM_0011640 97:exon7:c.C4766T: p.T1589I,VCAN:NM_ 004385:exon8:c.C77 27T:p.T2576I VCAN:NM_0011640 97:exon7:c.C5126T: p.P1709L,VCAN:NM _004385:exon8:c.C8 087T:p.P2696L TTC37:NM_014639: exon39:c.C4120T:p. L1374F ERAP1:NM_001040 458:exon2:c.G424A: p.G142R,ERAP1:NM _001198541:exon2:c .G424A:p.G142R,ER AP1:NM_016442:exo n2:c.G424A:p.G142 R RAD50:NM_005732: exon24:c.G3716A:p. R1239Q Validation Negative METMCC_627 5 76717692 76717692 C T PDE8B nonsynonymo us SNV Validation Negative METMCC_627 5 79950715 79950715 G C MSH3 nonsynonymo us SNV Validation Negative METMCC_627 5 82836549 82836549 C T VCAN nonsynonymo us SNV Validation Negative METMCC_627 5 82836909 82836909 C T VCAN nonsynonymo us SNV Validation Negative METMCC_627 5 94818269 94818269 G A TTC37 nonsynonymo us SNV Validation Negative METMCC_627 5 96139206 96139206 C T ERAP1 nonsynonymo us SNV Validation Negative METMCC_627 5 131976461 131976461 G A RAD50 nonsynonymo us SNV T CTNNA1 CTNNA1:NM_00129 0312:exon6:c.C532T :p.R178W,CTNNA1: NM_001290309:exo n11:c.C1333T:p.R44 5W,CTNNA1:NM_00 nonsynonymo 1290307:exon12:c.C NA us SNV 1642T:p.R548W,CT NNA1:NM_00129031 0:exon12:c.C1273T: p.R425W,CTNNA1:N M_001903:exon12:c. C1642T:p.R548W Validation Negative METMCC_627 Validation Negative METMCC_627 Validation Negative METMCC_627 Validation Negative METMCC_627 5 138260294 138260294 C 5 139905788 139905788 C 5 140736999 140736999 C 5 140857704 140857704 G NA NA NA 44 0 0% 447 88 16.45% NA NA rs144776 112 28 0 0% 338 27 NA NA NA 88 0 0% 466 96 17.08% NA NA NA 101 0 0% 512 96 15.79% NA NA NA 154 0 0% 302 91 23.16% 7.40% NA 0.0002 rs149653 730 87 0 0% 563 130 18.76% NA 0.0002 rs358610 31 40 0 0% 194 50 20.49% NA NA 44 0 0% 192 49 20.33% T ANKHD1:NM_01774 7:exon26:c.C4700T: ANKHD1, nonsynonymo p.S1567F,ANKHD1ANKHD1NA us SNV EIF4EBP3:NM_0206 EIF4EBP3 90:exon26:c.C4700T :p.S1567F NA NA 120 1 0.83% 350 68 16.27% A PCDHGA4:NM_0189 17:exon1:c.C2325A: PCDHGA nonsynonymo p.D775E,PCDHGA4: NA 4 us SNV NM_032053:exon1:c .C2325A:p.D775E NA NA 19 0 0% 267 69 20.54% A PCDHGC3:NM_0025 88:exon1:c.G2021A: PCDHGC nonsynonymo p.R674Q,PCDHGC3: NA 3 us SNV NM_032402:exon1:c .G2021A:p.R674Q NA NA 63 0 0% 666 140 17.37% NA NA NA 36 0 0% 447 99 18.13% NA NA NA 61 0 0% 355 76 17.63% NA NA NA 17 0 0% 124 34 21.52% NA NA NA 77 0 0% 1277 344 21.22% NA NA NA 14 0 0% 295 77 20.70% NA NA NA 77 0 0% 376 72 16.07% NA NA NA 60 0 0% 1029 217 17.42% Validation Negative METMCC_627 5 148408067 148408067 C T Validation Negative METMCC_627 5 148417984 148417984 C T Validation Negative METMCC_627 5 148725166 148725166 G T Validation Negative METMCC_627 5 148747736 148747736 C T Validation Negative METMCC_627 5 149497340 149497340 G A Validation Negative METMCC_627 5 156742049 156742049 G A Validation Negative METMCC_627 5 170148786 170148786 C T SH3TC2:NM_02457 nonsynonymo SH3TC2 7:exon11:c.G1228A: us SNV p.E410K SH3TC2:NM_02457 nonsynonymo SH3TC2 7:exon8:c.G875A:p. us SNV G292E GRPEL2:NM_15240 nonsynonymo GRPEL2 7:exon1:c.G64T:p.A us SNV 22S PCYOX1L:NM_0240 nonsynonymo PCYOX1L 28:exon6:c.C1004T: us SNV p.S335F PDGFRB:NM_00260 nonsynonymo PDGFRB 9:exon22:c.C2978T: us SNV p.P993L CYFIP2:NM_001291 721:exon12:c.G1225 A:p.E409K,CYFIP2: NM_001037333:exo n13:c.G1303A:p.E43 nonsynonymo CYFIP2 5K,CYFIP2:NM_001 us SNV 291722:exon13:c.G1 303A:p.E435K,CYFI P2:NM_014376:exon 13:c.G1303A:p.E435 K KCNIP1:NM_001278 nonsynonymo KCNIP1 339:exon4:c.C281T: us SNV p.P94L Validation Negative METMCC_627 6 28540086 28540086 G A ZBED9 Validation Negative METMCC_627 6 29012616 29012616 G A OR2W1 Validation Negative METMCC_627 6 29080598 29080598 G A OR2J3 Validation Negative METMCC_627 6 30996825 30996825 T C MUC22 Validation Negative METMCC_627 6 30996831 30996831 T C MUC22 Validation Negative METMCC_627 6 30997481 30997481 G A MUC22 Validation Negative METMCC_627 6 31617112 31617112 G A Validation Negative METMCC_627 6 33284585 33284585 G A Validation Negative METMCC_627 6 42073230 42073230 G A Validation Negative METMCC_627 6 44233400 44233400 C T Validation Negative METMCC_627 6 44250046 44250046 G A BAG6 ZBED9:NM_052923: nonsynonymo exon4:c.C3580T:p.P us SNV 1194S OR2W1:NM_030903 nonsynonymo :exon1:c.C337T:p.L1 us SNV 13F OR2J3:NM_0010052 nonsynonymo 16:exon1:c.G931A:p. us SNV E311K MUC22:NM_001198 nonsynonymo 815:exon3:c.T3617C us SNV :p.I1206T MUC22:NM_001198 nonsynonymo 815:exon3:c.T3623C us SNV :p.V1208A MUC22:NM_001198 nonsynonymo 815:exon3:c.G4273A us SNV :p.A1425T NA NA NA 129 0 0% 210 41 16.33% NA NA NA 99 0 0% 431 84 16.31% NA NA NA 42 0 0% 98 19 16.24% NA NA rs199901 342 49 0 0% 1200 44 3.54% NA NA NA 45 0 0% 1232 47 3.67% NA NA rs753779 06 38 0 0% 1315 48 3.52% BAG6:NM_00109853 4:exon4:c.C287T:p.S 96F,BAG6:NM_0011 99697:exon4:c.C287 T:p.S96F,BAG6:NM_ 001199698:exon4:c. nonsynonymo C287T:p.S96F,BAG6 NA us SNV :NM_004639:exon4: c.C287T:p.S96F,BA G6:NM_080702:exon 4:c.C287T:p.S96F,B AG6:NM_080703:ex on4:c.C287T:p.S96F NA NA 84 0 0% 569 118 17.18% NA NA 44 0 0% 225 64 22.15% NA NA 19 0 0% 217 64 22.78% NA NA 58 0 0% 337 72 17.60% rs149274 404 36 0 0% 383 65 14.51% ZBTB22:NM_001145 338:exon2:c.C109T: nonsynonymo ZBTB22 p.P37S,ZBTB22:NM NA us SNV _005453:exon2:c.C1 09T:p.P37S C6orf132:NM_00116 nonsynonymo C6orf132 4446:exon4:c.C2420 NA us SNV T:p.P807L NFKBIE:NM_004556 nonsynonymo NFKBIE :exon1:c.G101A:p.G NA us SNV 34E TCTE1 ID=COSM1 TCTE1:NM_182539: nonsynonymo 08076;OC exon4:c.C1097T:p.S NA us SNV CURENCE 366F =1(skin) Validation Negative METMCC_627 6 51944751 51944751 C T PKHD1 nonsynonymo us SNV Validation Negative METMCC_627 6 55739320 55739320 C T BMP5 nonsynonymo us SNV Validation Negative METMCC_627 6 70854834 70854834 C T COL19A1 nonsynonymo us SNV Validation Negative METMCC_627 6 74520762 74520762 G A CD109 nonsynonymo us SNV Validation Negative METMCC_627 6 80626531 80626531 T C ELOVL4 nonsynonymo us SNV CEP162 Validation Negative METMCC_627 6 84862393 84862393 G A NA NA NA 39 0 0% 227 41 15.30% NA NA NA 69 0 0% 548 108 16.46% NA NA NA 73 0 0% 223 40 15.21% NA NA NA 96 0 0% 333 66 16.54% NA NA NA 52 0 0% 145 31 17.61% CEP162:NM_001286 206:exon23:c.C3272 nonsynonymo T:p.S1091F,CEP162 NA us SNV :NM_014895:exon23 :c.C3500T:p.S1167F NA NA 118 1 0.84% 522 116 18.18% NA NA NA 115 0 0% 138 28 16.87% NA NA NA 55 1 1.79% 553 120 17.83% NA NA NA 87 0 0% 323 96 22.91% NA NA NA 70 1 1.41% 87 18 17.14% NA NA NA 104 534 108 16.82% Validation Negative METMCC_627 6 86238072 G A SNX14 nonsynonymo us SNV Validation Negative METMCC_627 6 100841729 100841729 G A SIM1 nonsynonymo us SNV Validation Negative METMCC_627 6 102483327 102483327 T C GRIK2 nonsynonymo us SNV Validation Negative METMCC_627 6 109907136 109907136 G A AK9 nonsynonymo us SNV Validation Negative METMCC_627 6 116574118 116574118 G A TSPYL4 nonsynonymo us SNV 86238072 PKHD1:NM_138694: exon5:c.G337A:p.G1 13R,PKHD1:NM_170 724:exon5:c.G337A: p.G113R BMP5:NM_021073:e xon1:c.G344A:p.G11 5E COL19A1:NM_0018 58:exon25:c.C1705T :p.P569S CD109:NM_0011595 88:exon27:c.G3363A :p.M1121I,CD109:N M_001159587:exon2 8:c.G3594A:p.M1198 I,CD109:NM_133493 :exon28:c.G3594A:p. M1198I ELOVL4:NM_022726 :exon6:c.A739G:p.M 247V SNX14:NM_020468: exon17:c.C1744T:p. P582S,SNX14:NM_0 01297614:exon19:c. C1876T:p.P626S,SN X14:NM_153816:exo n20:c.C1903T:p.P63 5S SIM1:NM_005068:ex on10:c.C1204T:p.H4 02Y GRIK2:NM_0011662 47:exon14:c.T2197C :p.Y733H,GRIK2:NM _021956:exon14:c.T 2197C:p.Y733H,GRI K2:NM_175768:exon 14:c.T2197C:p.Y733 H AK9:NM_001145128 :exon18:c.C1982T:p. S661L TSPYL4:NM_021648 :exon1:c.C1054T:p.P 352S 0 0% nonsynonymo us SNV Validation Negative METMCC_627 6 119245263 119245263 C T MCM9 Validation Negative METMCC_627 6 130762126 130762126 G A TMEM200 nonsynonymo A us SNV Validation Negative METMCC_627 6 131946011 131946011 G A MED23 nonsynonymo us SNV Validation Negative METMCC_627 6 132892074 132892074 C T TAAR6 nonsynonymo us SNV Validation Negative METMCC_627 6 151130355 151130355 C T PLEKHG1 nonsynonymo us SNV Validation Negative METMCC_627 6 159456956 159456956 G A TAGAP nonsynonymo us SNV Validation Negative METMCC_627 6 159653628 159653628 C T FNDC1 nonsynonymo us SNV Validation Negative METMCC_627 6 160482652 160482652 C T IGF2R nonsynonymo us SNV Validation Negative METMCC_627 6 161523770 161523770 G A MAP3K4 nonsynonymo us SNV Validation Negative METMCC_627 6 165756929 165756929 G A PDE10A nonsynonymo us SNV Validation Negative METMCC_627 7 1786127 1786127 C T ELFN1 nonsynonymo us SNV Validation Negative METMCC_627 7 31377940 31377940 G A NEUROD nonsynonymo 6 us SNV Validation Negative METMCC_627 7 31378749 31378749 C G NEUROD nonsynonymo 6 us SNV Validation Negative METMCC_627 7 38505846 38505846 C T AMPH nonsynonymo us SNV Validation Negative METMCC_627 7 43909057 43909057 C T MRPS24 nonsynonymo us SNV Validation Negative METMCC_627 7 75643118 75643118 T C STYXL1 nonsynonymo us SNV Validation Negative METMCC_627 7 81593404 81593404 T A CACNA2 D1 nonsynonymo us SNV Validation Negative METMCC_627 7 82545334 82545334 G T PCLO nonsynonymo us SNV Validation Negative METMCC_627 7 82582174 82582174 G A PCLO nonsynonymo us SNV Validation Negative METMCC_627 7 82583787 82583787 G A PCLO nonsynonymo us SNV Validation Negative METMCC_627 7 83675720 83675720 C T SEMA3A nonsynonymo us SNV Validation Negative METMCC_627 7 86416084 86416084 G A GRM3 nonsynonymo us SNV Validation Negative METMCC_627 7 94039035 94039035 G A COL1A2 nonsynonymo us SNV Validation Negative METMCC_627 7 100551575 100551575 G A MUC3A nonsynonymo us SNV MCM9:NM_017696:e xon2:c.G334A:p.E11 2K,MCM9:NM_1532 55:exon3:c.G334A:p. E112K TMEM200A:NM_001 258276:exon2:c.G55 9A:p.G187S,TMEM2 00A:NM_001258278: exon2:c.G559A:p.G1 87S,TMEM200A:NM _052913:exon2:c.G5 59A:p.G187S,TMEM 200A:NM_00125827 7:exon3:c.G559A:p. G187S MED23:NM_001270 521:exon4:c.C278T: p.P93L,MED23:NM_ 001270522:exon4:c. C278T:p.P93L,MED 23:NM_004830:exon 4:c.C278T:p.P93L,M ED23:NM_015979:e xon4:c.C278T:p.P93 L TAAR6:NM_175067: exon1:c.C614T:p.S2 05F PLEKHG1:NM_0010 29884:exon9:c.C102 7T:p.L343F TAGAP:NM_001278 733:exon6:c.C1910T :p.S637F,TAGAP:N M_152133:exon9:c. C1565T:p.S522F,TA GAP:NM_054114:ex on10:c.C2099T:p.S7 00F FNDC1:NM_032532: exon11:c.C2084T:p. S695L IGF2R:NM_000876:e xon24:c.C3380T:p.P 1127L MAP3K4:NM_00129 1958:exon20:c.G217 4A:p.R725K PDE10A:NM_00113 0690:exon19:c.C204 8T:p.P683L ELFN1:NM_0011286 36:exon2:c.C1895T: p.A632V NEUROD6:NM_0227 28:exon2:c.C943T:p. P315S NEUROD6:NM_0227 28:exon2:c.G134C:p. G45A AMPH:NM_001635:e xon8:c.G593A:p.R19 8Q,AMPH:NM_1393 16:exon8:c.G593A:p. R198Q MRPS24:NM_03201 4:exon1:c.G38A:p.R 13Q STYXL1:NM_016086 :exon5:c.A395G:p.E 132G CACNA2D1:NM_000 722:exon34:c.A2748 T:p.L916F PCLO:NM_014510:e xon7:c.C11968A:p.P 3990T,PCLO:NM_03 3026:exon7:c.C1196 8A:p.P3990T PCLO:NM_014510:e xon5:c.C8095T:p.P2 699S,PCLO:NM_033 026:exon5:c.C8095T :p.P2699S PCLO:NM_014510:e xon5:c.C6482T:p.S2 161L,PCLO:NM_033 026:exon5:c.C6482T :p.S2161L SEMA3A:NM_00608 0:exon6:c.G587A:p. G196E GRM3:NM_000840:e xon3:c.G976A:p.A32 6T COL1A2:NM_00008 9:exon19:c.G937A:p. G313S MUC3A:NM_005960: exon2:c.G2156A:p.R 719K NA NA NA 71 0 0% 186 26 12.26% NA NA NA 79 0 0% 704 137 16.29% NA NA NA 124 0 0% 217 42 16.22% NA NA NA 90 0 0% 570 109 16.05% NA NA NA 38 0 0% 482 98 16.90% NA NA NA 59 0 0% 618 145 rs144100 305 19 0 0% 433 101 18.91% NA 0.000599 19% NA NA NA 62 0 0% 461 116 20.10% NA NA NA 85 0 0% 210 47 18.29% NA NA NA 109 0 0% 265 44 14.24% NA NA NA 11 0 0% 81 21 20.59% NA NA NA 51 0 0% 208 79 27.53% NA NA NA 76 1 1.30% 556 198 26.26% NA NA NA 163 0 0% 361 120 24.95% NA NA NA 23 0 0% 201 56 21.79% NA NA NA 32 0 0% 210 96 31.37% NA NA NA 124 0 0% 364 71 16.32% NA NA NA 107 0 0% 851 144 14.47% NA NA NA 121 0 0% 588 102 14.78% NA NA NA 75 1 1.32% 715 257 26.44% NA NA NA 134 0 0% 443 136 23.49% NA NA NA 32 0 0% 1167 225 16.16% NA NA NA 97 0 0% 573 207 26.54% NA NA NA 87 0 0% 801 167 17.25% Validation Negative METMCC_627 7 101265436 101265436 C T MYL10 Validation Negative METMCC_627 7 101840295 101840295 C G CUX1 Validation Negative METMCC_627 7 115608283 115608283 T C TFEC Validation Negative METMCC_627 7 123149963 123149963 C T IQUB Validation Negative METMCC_627 7 123508448 123508448 C T HYAL4 Validation Negative METMCC_627 7 130021699 130021699 G A CPA1 Validation Negative METMCC_627 7 140494232 140494232 G A BRAF Validation Negative METMCC_627 7 141750519 141750519 C T MGAM Validation Negative METMCC_627 7 143657341 143657341 C T OR2F1 Validation Negative METMCC_627 7 150068521 150068521 G A REPIN1 Validation Negative METMCC_627 7 150777816 150777816 G A FASTK Validation Negative METMCC_627 8 A CSMD1 Validation Negative METMCC_627 8 3216769 27320705 3216769 G 27320705 C T MYL10:NM_138403: nonsynonymo exon5:c.G394A:p.E1 us SNV 32K CUX1:NM_00120254 3:exon15:c.C1637G: nonsynonymo p.S546C,CUX1:NM_ us SNV 181552:exon15:c.C1 604G:p.S535C TFEC:NM_00124458 nonsynonymo 3:exon1:c.A22G:p.T us SNV 8A IQUB:NM_00128285 5:exon3:c.G524A:p. nonsynonymo R175K,IQUB:NM_17 us SNV 8827:exon3:c.G524A :p.R175K HYAL4:NM_012269: nonsynonymo exon3:c.C121T:p.P4 us SNV 1S CPA1:NM_001868:e nonsynonymo xon3:c.G376A:p.E12 us SNV 6K BRAF:NM_004333:e nonsynonymo xon8:c.C1016T:p.S3 us SNV 39F MGAM:NM_004668: nonsynonymo exon24:c.C2660T:p. us SNV S887L OR2F1:NM_012369: nonsynonymo exon1:c.C278T:p.P9 us SNV 3L REPIN1:NM_014374 :exon1:c.G191A:p.R 64K,REPIN1:NM_00 1099696:exon2:c.G1 nonsynonymo 91A:p.R64K,REPIN1 us SNV :NM_001099695:exo n3:c.G362A:p.R121K ,REPIN1:NM_01340 0:exon4:c.G191A:p. R64K FASTK:NM_0012584 61:exon1:c.C38T:p.P 13L,FASTK:NM_006 nonsynonymo 712:exon1:c.C38T:p. us SNV P13L,FASTK:NM_03 3015:exon1:c.C38T: p.P13L CSMD1:NM_033225: nonsynonymo exon21:c.C3209T:p. us SNV S1070F NA NA NA 24 0 0% 217 101 31.76% NA NA NA 66 0 0% 632 293 31.68% NA NA NA 96 0 0% 197 28 12.44% NA NA NA 172 0 0% 260 100 27.78% NA NA NA 147 0 0% 483 91 15.85% NA NA NA 34 0 0% 718 316 30.56% NA NA NA 192 0 0% 346 60 14.78% NA NA NA 42 0 0% 142 49 25.65% NA NA NA 56 0 0% 465 192 29.22% NA NA NA 33 0 0% 682 153 18.32% NA NA NA 36 0 0% 568 231 28.91% NA NA NA 41 0 0% 182 36 16.51% CHRNA2 CHRNA2:NM_00074 2:exon6:c.G1255A:p. nonsynonymo E419K,CHRNA2:NM NA us SNV _001282455:exon6:c .G1210A:p.E404K NA NA 25 0 0% 414 114 21.59% INTS9:NM_0011451 59:exon9:c.C842T:p. S281F,INTS9:NM_0 nonsynonymo 01172562:exon10:c. NA us SNV C833T:p.S278F,INT S9:NM_018250:exon 10:c.C905T:p.S302F NA NA 56 0 0% 116 NA NA NA 95 0 0% 57 21 26.92% NA NA NA 130 0 0% 301 68 18.43% NA NA NA 79 0 0% 159 37 18.88% NA NA NA 102 1 0.97% 239 72 23.15% NA NA NA 59 0 0% 280 124 30.69% NA NA NA 50 0 0% 405 168 29.32% NA NA NA 40 0 0% 441 71 13.87% Validation Negative METMCC_627 8 28651456 28651456 G A INTS9 Validation Negative METMCC_627 8 38994197 38994197 C T ADAM32 Validation Negative METMCC_627 8 39602407 39602407 G A ADAM2 Validation Negative METMCC_627 8 39624372 39624372 C A ADAM2 Validation Negative METMCC_627 8 42563982 42563982 G A CHRNB3 Validation Negative METMCC_627 8 51449325 51449325 C T SNTG1 Validation Negative METMCC_627 8 54142288 54142288 G A OPRK1 Validation Negative METMCC_627 8 73480192 73480192 G A KCNB2 ADAM32:NM_14500 nonsynonymo 4:exon3:c.C160T:p.P us SNV 54S ADAM2:NM_001278 113:exon19:c.C2123 T:p.P708L,ADAM2:N nonsynonymo M_001278114:exon1 us SNV 9:c.C1991T:p.P664L ,ADAM2:NM_001464 :exon20:c.C2180T:p. P727L ADAM2:NM_001278 113:exon13:c.G1445 T:p.G482V,ADAM2: nonsynonymo NM_001278114:exo us SNV n14:c.G1502T:p.G50 1V,ADAM2:NM_001 464:exon14:c.G1502 T:p.G501V CHRNB3:NM_00074 nonsynonymo 9:exon2:c.G175A:p. us SNV G59R SNTG1:NM_001287 814:exon10:c.C637T :p.H213Y,SNTG1:N nonsynonymo M_018967:exon11:c. us SNV C637T:p.H213Y,SNT G1:NM_001287813: exon12:c.C637T:p.H 213Y OPRK1:NM_000912: exon4:c.C712T:p.P2 nonsynonymo 38S,OPRK1:NM_001 us SNV 282904:exon5:c.C44 5T:p.P149S KCNB2:NM_004770: nonsynonymo exon2:c.G223A:p.E7 us SNV 5K 29 20% Validation Negative METMCC_627 8 80553703 80553703 G A STMN2 Validation Negative METMCC_627 8 94772191 94772191 G A TMEM67 Validation Negative METMCC_627 8 110100076 110100076 C T TRHR Validation Negative METMCC_627 8 110503325 110503325 G A PKHD1L1 Validation Negative METMCC_627 8 113364706 113364706 C T CSMD3 Validation Negative METMCC_627 8 113662432 113662432 C T CSMD3 Validation Negative METMCC_627 8 117950544 117950544 C T AARD Validation Negative METMCC_627 8 120584458 120584458 C T ENPP2 Validation Negative METMCC_627 8 144808795 144808795 G A FAM83H Validation Negative METMCC_627 8 145113970 145113970 G A OPLAH Validation Negative METMCC_627 8 145732207 145732207 G A GPT Validation Negative METMCC_627 9 A DOCK8 421037 421037 G Validation Negative METMCC_627 9 5944872 5944872 G A Validation Negative METMCC_627 9 35555551 35555551 G A Validation Negative METMCC_627 9 97329665 97329665 C T Validation Negative METMCC_627 9 101824297 101824297 T G Validation Negative METMCC_627 9 104356971 104356971 C T Validation Negative METMCC_627 9 113217927 113217927 C T 9 118949991 118949991 C T PAPPA Validation Negative METMCC_627 9 126133459 126133459 G A CRB2 Validation Negative METMCC_627 9 135116423 135116423 G A Validation Negative METMCC_627 9 136221527 136221527 G A Validation Negative METMCC_627 9 137804872 137804872 C T Validation Negative METMCC_627 9 139651536 139651536 G A 10 5789265 5789265 C T Validation Negative METMCC_627 10 17113568 17113568 G A ID=COSM1 39765;OC NA CURENCE =1(skin) NA 43 0 0% 258 103 28.53% NA NA NA 105 0 0% 285 116 28.93% ID=COSM2 TRHR:NM_003301:e nonsynonymo 31167;OC xon1:c.C335T:p.S11 NA us SNV CURENCE 2F =1(skin) NA 65 0 0% 523 216 29.23% PKHD1L1:NM_1775 nonsynonymo 31:exon61:c.G10109 us SNV A:p.G3370E CSMD3:NM_052900: exon38:c.G5882A:p. G1961E,CSMD3:NM nonsynonymo _198123:exon39:c.G us SNV 6194A:p.G2065E,CS MD3:NM_198124:ex on40:c.G6074A:p.G2 025E CSMD3:NM_052900: exon18:c.G2839A:p. E947K,CSMD3:NM_ nonsynonymo 198123:exon19:c.G3 us SNV 151A:p.E1051K,CS MD3:NM_198124:ex on20:c.G3031A:p.E1 011K AARD:NM_0010253 nonsynonymo 57:exon1:c.C62T:p.P us SNV 21L ENPP2:NM_001130 nonsynonymo 863:exon20:c.G1813 us SNV A:p.E605K FAM83H:NM_19848 nonsynonymo 8:exon5:c.C2836T:p. us SNV P946S OPLAH:NM_017570: nonsynonymo exon4:c.C376T:p.P1 us SNV 26S GPT:NM_005309:ex nonsynonymo on10:c.G1381A:p.E4 us SNV 61K DOCK8:NM_001190 458:exon30:c.G3812 A:p.G1271E,DOCK8: nonsynonymo NM_001193536:exo us SNV n31:c.G3908A:p.G13 03E,DOCK8:NM_20 3447:exon32:c.G411 2A:p.G1371E NA NA NA 148 0 0% 396 78 16.46% NA NA NA 119 0 0% 199 89 30.90% ID=COSM1 36682;OC NA CURENCE =1(skin) NA 141 0 0% 381 134 26.02% NA NA NA 20 0 0% 655 243 27.06% NA NA NA 77 0 0% 207 89 30.07% NA NA rs375816 016 22 0 0% 538 120 18.24% NA NA NA 22 0 0% 547 104 15.98% NA NA NA 22 0 0% 422 72 14.57% NA NA NA 36 0 0% 221 44 16.60% NA 151 0 0% 171 33 16.18% NA 18 0 0% 304 79 20.63% NA 44 0 0% 347 44 11.25% NA 169 0 0% 291 66 18.49% NA 70 0 0% 710 152 17.63% NA 132 0 0% 499 92 15.57% rs445159 45 0 0% 501 97 16.22% ID=COSM1 KIAA2026:NM_0010 109469;OC nonsynonymo KIAA2026 17969:exon5:c.C238 CURENCE NA us SNV 1T:p.S794L =1(endome trium) RUSC2:NM_001135 999:exon3:c.G2509A nonsynonymo RUSC2 :p.D837N,RUSC2:N NA NA us SNV M_014806:exon3:c. G2509A:p.D837N FBP2:NM_003837:e nonsynonymo FBP2 xon5:c.G592A:p.E19 NA NA us SNV 8K COL15A1:NM_0018 nonsynonymo COL15A1 55:exon37:c.T3447G NA NA us SNV :p.H1149Q PPP3R2:NM_14718 nonsynonymo PPP3R2 0:exon1:c.G242A:p. NA NA us SNV G81E SVEP1:NM_153366: nonsynonymo SVEP1 exon22:c.G3730A:p. NA NA us SNV G1244R Validation Negative METMCC_627 Validation Negative METMCC_627 STMN2:NM_001199 214:exon3:c.G206A: nonsynonymo p.R69Q,STMN2:NM_ us SNV 007029:exon3:c.G20 6A:p.R69Q TMEM67:NM_00114 nonsynonymo 2301:exon4:c.G133A us SNV :p.E45K ID=COSM1 PAPPA:NM_002581: nonsynonymo 624474;OC exon2:c.C974T:p.P3 NA us SNV CURENCE 25L =2(liver) CRB2:NM_173689:e nonsynonymo xon8:c.G2038A:p.E6 us SNV 80K NTNG2:NM_032536: nonsynonymo NTNG2 exon7:c.G1349A:p.G us SNV 450D SURF1:NM_003172: nonsynonymo SURF1 exon4:c.C310T:p.P1 us SNV 04S FCN1:NM_002003:e nonsynonymo FCN1 xon6:c.G458A:p.G15 us SNV 3E LCN8:NM_178469:e nonsynonymo LCN8 xon2:c.C109T:p.L37 us SNV F FAM208B:NM_0177 nonsynonymo FAM208B 82:exon15:c.C3881T us SNV :p.P1294L CUBN:NM_001081:e nonsynonymo CUBN xon19:c.C2482T:p.R us SNV 828C NA NA NA 30 0 0% 505 112 18.15% NA NA NA 19 0 0% 292 65 18.21% NA NA NA 53 1 1.85% 353 67 15.95% NA NA NA 16 0 0% 137 29 17.47% NA NA NA 35 0 0% 253 57 18.39% NA NA NA 101 1 0.98% 348 66 15.94% NA NA NA 118 0 247 44 15.12% 0% Validation Negative METMCC_627 10 21074705 21074705 G A NEBL NEBL:NM_213569:e xon7:c.C784T:p.P26 nonsynonymo 2S,NEBL:NM_00639 us SNV 3:exon28:c.C3016T: p.P1006S Validation Negative METMCC_627 10 45939726 45939726 G A ALOX5 nonsynonymo us SNV Validation Negative METMCC_627 10 49982696 49982696 C T WDFY4 nonsynonymo us SNV Validation Negative METMCC_627 10 50533759 50533759 C T C10orf71 nonsynonymo us SNV Validation Negative METMCC_627 10 75258871 75258871 C T USP54 nonsynonymo us SNV Validation Negative METMCC_627 10 76781934 76781934 T C KAT6B nonsynonymo us SNV Validation Negative METMCC_627 10 79567627 79567627 G A DLG5 nonsynonymo us SNV Validation Negative METMCC_627 10 88659599 88659599 A G BMPR1A nonsynonymo us SNV Validation Negative METMCC_627 10 95116600 95116600 C T MYOF nonsynonymo us SNV Validation Negative METMCC_627 10 95389042 95389042 G A PDE6C nonsynonymo us SNV Validation Negative METMCC_627 10 95993926 95993926 G C PLCE1 nonsynonymo us SNV ALOX5:NM_000698: exon13:c.G1837A:p. E613K,ALOX5:NM_0 01256153:exon13:c. G1741A:p.E581K WDFY4:NM_020945 :exon14:c.C2747T:p. A916V C10orf71:NM_00113 5196:exon3:c.C3169 T:p.P1057S USP54:NM_152586: exon22:c.G4571A:p. G1524E KAT6B:NM_0012564 68:exon16:c.T2768C :p.I923T,KAT6B:NM _001256469:exon16: c.T2441C:p.I814T,K AT6B:NM_012330:e xon16:c.T3317C:p.I1 106T DLG5:NM_004747:e xon25:c.C4723T:p.R 1575C BMPR1A:NM_00432 9:exon6:c.A382G:p. N128D MYOF:NM_133337:e xon29:c.G3087A:p.M 1029I,MYOF:NM_01 3451:exon30:c.G312 6A:p.M1042I PDE6C:NM_006204: exon8:c.G1099A:p.D 367N PLCE1:NM_0011659 79:exon5:c.G1147C: p.V383L,PLCE1:NM _001288989:exon6:c .G2071C:p.V691L,P LCE1:NM_016341:e xon6:c.G2071C:p.V6 91L PLCE1:NM_0011659 79:exon15:c.C3338T :p.S1113L,PLCE1:N M_001288989:exon1 6:c.C4214T:p.S1405 L,PLCE1:NM_01634 1:exon16:c.C4262T: p.S1421L PIK3AP1:NM_15230 9:exon7:c.A1106G:p. N369S PIK3AP1:NM_15230 9:exon2:c.C280T:p.P 94S ID=COSM1 702125,CO SM170212 NA 4;OCCUR ENCE=1(s kin) NA 74 0 0% 388 67 14.73% NA NA NA 25 0 0% 356 102 22.27% NA NA NA 14 0 0% 112 32 22.22% NA NA NA 36 0 0% 1112 272 19.65% NA NA NA 80 0 0% 489 109 18.23% NA NA NA 52 0 0% 179 40 18.26% NA NA NA 39 0 0% 443 78 14.97% NA NA NA 94 0 0% 353 58 14.11% NA NA NA 109 0 0% 458 110 19.37% NA NA NA 41 0 0% 427 84 16.44% NA NA NA 57 0 0% 411 60 12.74% ID=COSM1 585218,CO SM158521 9,COSM92 NA 1663;OCC URENCE= 1(endomet rium) NA 69 0 0% 229 59 20.49% NA NA NA 53 0 0% 209 68 24.55% 121 21.42% Validation Negative METMCC_627 10 96025696 96025696 C T PLCE1 nonsynonymo us SNV Validation Negative METMCC_627 10 98408495 98408495 T C PIK3AP1 nonsynonymo us SNV Validation Negative METMCC_627 10 98469474 98469474 G A PIK3AP1 nonsynonymo us SNV NA NA NA 32 0 0% 444 TCF7L2 TCF7L2:NM_001198 527:exon14:c.C1363 nonsynonymo T:p.L455F,TCF7L2:N NA us SNV M_001198528:exon1 4:c.C1375T:p.L459F NA NA 70 0 0% 281 NA NA NA 171 0 0% 453 100 18.08% NA NA NA 20 0 0% 214 55 20.45% NA NA NA 28 0 0% 379 61 13.86% NA NA NA 52 0 0% 529 103 16.30% NA NA NA 56 1 1.75% 135 18 11.76% NA NA NA 50 0 0% 199 83 29.43% NA NA NA 82 0 0% 254 63 19.87% NA NA NA 36 0 0% 310 118 27.57% rs113104 876 76 0 0% 434 78 15.23% Validation Negative METMCC_627 10 114921339 114921339 C T Validation Negative METMCC_627 10 116620613 116620613 C T FAM160B nonsynonymo 1 us SNV Validation Negative METMCC_627 10 126480333 126480333 C T METTL10 nonsynonymo us SNV Validation Negative METMCC_627 10 126715019 126715019 G A CTBP2 nonsynonymo us SNV Validation Negative METMCC_627 10 133950640 133950640 G A JAKMIP3 nonsynonymo us SNV Validation Negative METMCC_627 11 1092920 1092920 C A MUC2 nonsynonymo us SNV Validation Negative METMCC_627 11 3844155 3844155 G A PGAP2 nonsynonymo us SNV Validation Negative METMCC_627 11 5021008 5021008 T C OR51L1 nonsynonymo us SNV Validation Negative METMCC_627 11 17615697 17615697 G A OTOG nonsynonymo us SNV Validation Negative METMCC_627 11 55322393 55322393 G A OR4C15 nonsynonymo us SNV FAM160B1:NM_001 135051:exon15:c.C2 053T:p.P685S,FAM1 60B1:NM_020940:ex on15:c.C2053T:p.P6 85S METTL10:NM_2125 54:exon1:c.G70A:p. E24K CTBP2:NM_022802: exon1:c.C1310T:p.S 437F JAKMIP3:NM_00110 5521:exon6:c.G1234 A:p.D412N MUC2:NM_002457:e xon30:c.C4739A:p.T 1580N PGAP2:NM_001256 235:exon4:c.G151A: p.G51R OR51L1:NM_001004 755:exon1:c.T796C: p.F266L OTOG:NM_0012772 69:exon27:c.G3428A :p.S1143N,OTOG:N M_001292063:exon2 8:c.G3392A:p.S1131 N OR4C15:NM_00100 1920:exon1:c.G611A :p.G204E NA 0.01857 42 13% Validation Negative METMCC_627 11 55944344 55944344 A G OR5J2 Validation Negative METMCC_627 11 58346992 58346992 C T ZFP91 OR5J2:NM_0010054 nonsynonymo 92:exon1:c.A251G:p. NA us SNV N84S ZFP91:NM_0011970 51:exon1:c.C238T:p. nonsynonymo R80W,ZFP91:NM_0 NA us SNV 53023:exon1:c.C238 T:p.R80W NA NA 92 1 1.08% 630 97 13.34% NA NA 22 0 0% 403 117 22.50% NA NA 73 0 0% 228 41 15.24% NA NA NA 111 0 0% 188 41 17.90% NA NA NA 109 0 0% 191 40 17.32% NA NA NA 18 0 0% 244 49 16.72% MS4A3:NM_001031 666:exon5:c.C254T: p.S85F,MS4A3:NM_ nonsynonymo 001031809:exon6:c. NA us SNV C485T:p.S162F,MS4 A3:NM_006138:exon 7:c.C623T:p.S208F Validation Negative METMCC_627 11 59837684 59837684 C T MS4A3 Validation Negative METMCC_627 11 60215176 60215176 C T MS4A5 Validation Negative METMCC_627 11 60296862 60296862 A G MS4A13 Validation Negative METMCC_627 11 61666803 61666803 C T RAB3IL1 Validation Negative METMCC_627 11 64005093 64005093 G C VEGFB NA NA NA 17 0 0% 157 36 18.65% NA NA 13 0 0% 99 28 22.05% NA NA NA 38 0 0% 304 79 20.63% NA NA NA 18 0 0% 215 54 20.07% NA NA NA 42 0 0% 341 67 16.42% NA NA NA 52 0 0% 444 109 19.71% NA NA NA 26 0 0% 191 48 20.08% NA NA NA 167 0 0% 749 123 14.11% NA NA NA 83 0 0% 242 48 16.55% NA NA NA 67 0 0% 236 47 16.61% KMT2A KMT2A:NM_001197 104:exon27:c.C9419 nonsynonymo T:p.P3140L,KMT2A: NA us SNV NM_005933:exon27: c.C9410T:p.P3137L NA NA 93 0 0% 605 161 21.02% GRIK4 GRIK4:NM_0012824 70:exon7:c.C713T:p. S238L,GRIK4:NM_0 nonsynonymo 01282473:exon8:c.C NA us SNV 713T:p.S238L,GRIK 4:NM_014619:exon8 :c.C713T:p.S238L NA NA 50 0 0% 379 72 15.96% NA NA 75 0 0% 285 53 15.68% rs377645 881 49 0 0% 358 81 18.45% 113 0 0% 438 110 20.07% MS4A5:NM_023945: nonsynonymo exon5:c.C547T:p.P1 us SNV 83S MS4A13:NM_00127 8320:exon4:c.A154G :p.I52V,MS4A13:NM nonsynonymo _001100909:exon5:c us SNV .A211G:p.I71V,MS4 A13:NM_001012417: exon6:c.A331G:p.I11 1V RAB3IL1:NM_00127 1686:exon8:c.G971A nonsynonymo :p.G324D,RAB3IL1: us SNV NM_013401:exon9:c .G1049A:p.G350D VEGFB:NM_001243 733:exon6:c.G511C: nonsynonymo p.G171R,VEGFB:NM us SNV _003377:exon6:c.G6 12C:p.K204N Validation Negative METMCC_627 11 67206215 67206215 G T CORO1B:NM_02044 1:exon10:c.C1271A: nonsynonymo CORO1B p.S424Y,CORO1B:N NA us SNV M_001018070:exon1 1:c.C1271A:p.S424Y Validation Negative METMCC_627 11 67223093 67223093 C T CABP4 Validation Negative METMCC_627 11 70333169 70333169 G A SHANK2 Validation Negative METMCC_627 11 71735382 71735382 C T NUMA1 Validation Negative METMCC_627 11 71932535 71932535 G A FOLR2 Validation Negative METMCC_627 11 74429818 74429818 G A CHRDL2 Validation Negative METMCC_627 11 96124085 96124085 G A JRKL Validation Negative METMCC_627 11 102482549 102482549 G A MMP20 Validation Negative METMCC_627 11 105842732 105842732 G A GRIA4 Validation Negative METMCC_627 Validation Negative METMCC_627 11 118376026 118376026 C 11 120707522 120707522 C T T Validation Negative METMCC_627 11 124135167 124135167 A T OR8G5 Validation Negative METMCC_627 11 124756386 124756386 G A ROBO4 Validation Negative METMCC_627 11 130131083 130131083 G A ZBTB44 CABP4:NM_145200: nonsynonymo exon1:c.C199T:p.P6 us SNV 7S SHANK2:NM_13326 nonsynonymo 6:exon10:c.C1465T: us SNV p.P489S NUMA1:NM_006185: exon5:c.G146A:p.G4 nonsynonymo 9E,NUMA1:NM_001 us SNV 286561:exon6:c.G14 6A:p.G49E FOLR2:NM_000803: exon5:c.G497A:p.G1 66E,FOLR2:NM_001 113534:exon5:c.G49 nonsynonymo 7A:p.G166E,FOLR2: us SNV NM_001113535:exo n5:c.G497A:p.G166 E,FOLR2:NM_00111 3536:exon5:c.G497A :p.G166E CHRDL2:NM_00127 8473:exon2:c.C142T nonsynonymo :p.P48S,CHRDL2:N us SNV M_015424:exon2:c. C142T:p.P48S JRKL:NM_003772:ex on1:c.G272A:p.R91K nonsynonymo ,JRKL:NM_0012618 us SNV 33:exon2:c.G272A:p. R91K MMP20:NM_004771: nonsynonymo exon3:c.C460T:p.P1 us SNV 54S GRIA4:NM_000829: nonsynonymo exon15:c.G2386A:p. us SNV G796R OR8G5:NM_001005 nonsynonymo 198:exon1:c.A445T: NA us SNV p.M149L ROBO4:NM_019055: nonsynonymo exon16:c.C2768T:p. NA us SNV P923L ZBTB44:NM_014155 nonsynonymo :exon2:c.C686T:p.P2 NA us SNV 29L 0.000399 NA NA Validation Negative METMCC_627 Validation Negative METMCC_627 12 12 4919587 6657933 4919587 G 6657933 G A A KCNA6 KCNA6:NM_002235: nonsynonymo exon1:c.G380A:p.G1 NA us SNV 27E NA NA 23 0 0% 732 148 16.82% IFFO1 IFFO1:NM_0010396 70:exon6:c.C1139T: p.S380F,IFFO1:NM_ nonsynonymo 001193457:exon6:c. NA us SNV C1163T:p.S388F,IFF O1:NM_080730:exon 6:c.C1139T:p.S380F NA NA 37 0 0% 547 118 17.74% NA NA 35 0 0% 245 66 21.22% NA NA 57 1 1.72% 420 97 18.76% NA NA 32 0 0% 107 27 20.15% NA NA NA 141 0 0% 342 72 17.39% NA NA NA 28 0 0% 94 20 17.54% NA NA NA 100 0 0% 176 50 22.12% NA NA NA 93 0 0% 173 33 16.02% NA NA NA 140 0 0% 183 44 19.38% NA NA NA 80 0 0% 120 15 11.11% TMEM117:NM_0012 86212:exon4:c.G281 A:p.R94K,TMEM117: NM_001286213:exo nonsynonymo n4:c.G161A:p.R54K, TMEM117 NA us SNV TMEM117:NM_0012 86211:exon5:c.G593 A:p.R198K,TMEM11 7:NM_032256:exon5 :c.G593A:p.R198K NA NA 181 0 0% 491 76 13.40% NA NA 70 0 0% 168 42 ID=COSM1 362087;OC CURENCE NA =1(skin),1(l arge_intest ine) NA 37 0 0% 75 16 17.58% NA NA rs373687 267 17 0 0% 299 44 12.83% NA Validation Negative METMCC_627 12 7047183 7047183 G A ATN1 Validation Negative METMCC_627 12 9000293 9000293 C T A2ML1 Validation Negative METMCC_627 12 11422543 11422543 C T PRB3 Validation Negative METMCC_627 12 15102777 15102777 A G ARHGDIB Validation Negative METMCC_627 12 15654563 15654563 C T Validation Negative METMCC_627 12 21350068 21350068 G A Validation Negative METMCC_627 12 21350078 21350078 C T Validation Negative METMCC_627 12 21448561 21448561 G A Validation Negative METMCC_627 12 29510562 29510562 G A Validation Negative METMCC_627 Validation Negative METMCC_627 12 12 44605155 47168956 44605155 G 47168956 C A T ATN1:NM_00100702 6:exon6:c.G2470A:p. nonsynonymo E824K,ATN1:NM_00 NA us SNV 1940:exon6:c.G2470 A:p.E824K A2ML1:NM_0012824 24:exon4:c.C359T:p. nonsynonymo S120F,A2ML1:NM_1 NA us SNV 44670:exon15:c.C18 32T:p.S611F nonsynonymo PRB3:NM_006249:e NA us SNV xon1:c.G61A:p.E21K ARHGDIB:NM_0011 nonsynonymo 75:exon3:c.T224C:p. us SNV V75A PTPRO:NM_002848: exon5:c.C671T:p.P2 nonsynonymo PTPRO 24L,PTPRO:NM_030 us SNV 667:exon5:c.C671T: p.P224L SLCO1B1:NM_0064 nonsynonymo SLCO1B1 46:exon8:c.G916A:p. us SNV D306N SLCO1B1:NM_0064 nonsynonymo SLCO1B1 46:exon8:c.C926T:p. us SNV A309V SLCO1A2:NM_0210 94:exon9:c.C1241T: nonsynonymo SLCO1A2 p.S414L,SLCO1A2: us SNV NM_134431:exon11: c.C1241T:p.S414L ERGIC2:NM_016570 nonsynonymo ERGIC2 :exon7:c.C470T:p.P1 us SNV 57L SLC38A4 nonsynonymo us SNV SLC38A4:NM_00114 3824:exon13:c.G117 5A:p.G392E,SLC38A 4:NM_018018:exon1 4:c.G1175A:p.G392 E TUBA1A:NM_00127 0399:exon3:c.C367T :p.R123C,TUBA1A:N M_001270400:exon3 :c.C262T:p.R88C,TU BA1A:NM_006009:e xon3:c.C367T:p.R12 3C FAM186A:NM_0011 45475:exon4:c.A483 2T:p.Q1611L ACVR1B:NM_00430 2:exon6:c.G1001A:p. R334Q,ACVR1B:NM _020327:exon6:c.G8 45A:p.R282Q,ACVR 1B:NM_020328:exon 7:c.G1124A:p.R375 Q NA 20% Validation Negative METMCC_627 12 49580101 49580101 G A TUBA1A nonsynonymo us SNV Validation Negative METMCC_627 12 50745783 50745783 T A FAM186A nonsynonymo us SNV Validation Negative METMCC_627 12 52378997 52378997 G A ACVR1B nonsynonymo us SNV NA NA 50 0 0% 162 33 16.92% ID=COSM1 KRT1:NM_006121:e nonsynonymo 705669;OC xon7:c.G1463A:p.G4 NA us SNV CURENCE 88E =1(skin) NA 32 0 0% 285 47 14.16% NA NA 46 0 0% 541 113 17.28% NA NA 46 0 0% 242 62 20.39% Validation Negative METMCC_627 12 53070071 53070071 C T KRT1 Validation Negative METMCC_627 12 53086380 53086380 C T KRT77 Validation Negative METMCC_627 12 53096905 53096905 C A KRT77 KRT77:NM_175078: nonsynonymo exon7:c.G1252A:p.E NA us SNV 418K KRT77:NM_175078: nonsynonymo exon1:c.G314T:p.G1 NA us SNV 05V TESPA1:NM_01479 6:exon7:c.G685A:p. E229K,TESPA1:NM _001261844:exon8:c nonsynonymo .G685A:p.E229K,TE us SNV SPA1:NM_00109881 5:exon9:c.G1099A:p. E367K,TESPA1:NM _001136030:exon9:c .G1099A:p.E367K ID=COSM1 255606,CO SM125560 7;OCCUR NA ENCE=1(o esophagus ) NA 52 0 0% 668 153 18.64% NA NA NA 73 0 0% 621 123 16.53% NA NA NA 77 0 0% 498 99 16.58% rs201721 498 76 0 0% 224 44 16.42% Validation Negative METMCC_627 12 55356583 55356583 C T TESPA1 Validation Negative METMCC_627 12 55615665 55615665 A G OR10A7 Validation Negative METMCC_627 12 55945705 55945705 G A OR6C4 Validation Negative METMCC_627 12 56188663 56188663 C A SARNP Validation Negative METMCC_627 12 57423583 57423583 C T MYO1A NA NA NA 70 0 0% 559 162 22.47% A C12orf56:NM_00109 9676:exon2:c.C326T nonsynonymo C12orf56 :p.S109L,C12orf56:N NA us SNV M_001170633:exon2 :c.C326T:p.S109L NA NA 147 0 0% 327 54 14.17% NA NA NA 70 0 0% 447 86 16.14% NA NA NA 126 0 0% 231 27 10.47% NA NA NA 103 0 0% 264 61 18.77% NA NA NA 107 0 0% 273 57 17.27% NA NA NA 23 0 0% 324 78 19.40% NA NA NA 27 0 0% 163 38 18.91% rs142499 535 63 1 1.56% 625 119 15.99% Validation Negative METMCC_627 12 64746763 64746763 G OR10A7:NM_00100 nonsynonymo 5280:exon1:c.A857G us SNV :p.N286S OR6C4:NM_001005 nonsynonymo 494:exon1:c.G695A: us SNV p.R232K SARNP:NM_033082: nonsynonymo exon6:c.G305T:p.R1 us SNV 02I MYO1A:NM_005379: exon25:c.G2665A:p. nonsynonymo E889K,MYO1A:NM_ us SNV 001256041:exon26:c .G2665A:p.E889K Validation Negative METMCC_627 12 65856990 65856990 G A MSRB3 nonsynonymo us SNV Validation Negative METMCC_627 12 81242050 81242050 G A LIN7A nonsynonymo us SNV Validation Negative METMCC_627 12 94673275 94673275 C T PLXNC1 nonsynonymo us SNV Validation Negative METMCC_627 12 96348713 96348713 C T AMDHD1 nonsynonymo us SNV Validation Negative METMCC_627 12 113544953 113544953 A G RASAL1 nonsynonymo us SNV Validation Negative METMCC_627 12 120509466 120509466 C T CCDC64 nonsynonymo us SNV Validation Negative METMCC_627 12 126138484 126138484 G A TMEM132 nonsynonymo B us SNV Validation Negative METMCC_627 13 49281980 49281980 G A CYSLTR2 nonsynonymo us SNV Validation Negative METMCC_627 13 58209156 58209156 C T PCDH17 nonsynonymo us SNV MSRB3:NM_198080: exon6:c.G467A:p.R1 56K,MSRB3:NM_00 1031679:exon7:c.G4 46A:p.R149K,MSRB 3:NM_001193461:ex on7:c.G446A:p.R149 K,MSRB3:NM_0011 93460:exon8:c.G446 A:p.R149K LIN7A:NM_004664:e xon3:c.C253T:p.R85 C PLXNC1:NM_00576 1:exon22:c.C3625T: p.P1209S AMDHD1:NM_15243 5:exon3:c.C269T:p.P 90L RASAL1:NM_00119 3521:exon15:c.T160 6C:p.S536P,RASAL 1:NM_001193520:ex on16:c.T1609C:p.S5 37P,RASAL1:NM_00 4658:exon16:c.T160 6C:p.S536P CCDC64:NM_20731 1:exon5:c.C950T:p.S 317F TMEM132B:NM_001 286219:exon5:c.G10 01A:p.G334E,TMEM 132B:NM_052907:ex on9:c.G2465A:p.G82 2E CYSLTR2:NM_0203 77:exon1:c.G1027A: p.E343K PCDH17:NM_00104 0429:exon1:c.C2476 T:p.P826S NA ID=COSM1 08917;OC CURENCE =2(skin) 0.0002 0.000599 NA NA NA 98 0 0% 339 84 19.86% NA NA NA 43 0 0% 577 165 22.24% ID=COSM9 45310;OC CURENCE NA =1(endome trium) NA 157 1 0.63% 162 61 27.35% Validation Negative METMCC_627 13 109817279 109817279 G A MYO16 MYO16:NM_001198 950:exon33:c.G5195 nonsynonymo A:p.R1732Q,MYO16: us SNV NM_015011:exon33: c.G5129A:p.R1710Q Validation Negative METMCC_627 14 A OR5AU1 OR5AU1:NM_00100 nonsynonymo 4731:exon1:c.C32T: NA us SNV p.P11L NA NA 26 0 0% 147 25 14.53% PCK2 PCK2:NM_00101807 3:exon7:c.G1138A:p. E380K,PCK2:NM_00 nonsynonymo 1291556:exon7:c.G7 NA us SNV 36A:p.E246K,PCK2: NM_004563:exon7:c .G1138A:p.E380K NA NA 63 0 0% 384 76 16.52% NA NA 60 0 0% 544 87 13.79% NA NA 12 0 0% 99 Validation Negative METMCC_627 14 21624153 24569326 21624153 G 24569326 G A Validation Negative METMCC_627 14 24761881 24761881 G A DHRS1 Validation Negative METMCC_627 14 25077510 25077510 C T GZMH DHRS1:NM_001136 050:exon5:c.C484T: nonsynonymo p.P162S,DHRS1:NM NA us SNV _138452:exon5:c.C4 84T:p.P162S GZMH:NM_0012707 80:exon2:c.G164A:p. R55K,GZMH:NM_00 nonsynonymo 1270781:exon2:c.G1 NA us SNV 64A:p.R55K,GZMH: NM_033423:exon2:c .G164A:p.R55K 33 25% NA rs200562 122 79 0 0% 185 34 15.53% NA NA NA 38 0 0% 553 138 19.97% NA NA NA 98 0 0% 256 47 15.51% NA NA NA 48 0 0% 541 85 13.58% NA NA NA 120 2 1.64% 160 22 12.09% NA NA NA 83 1 1.19% 139 20 12.58% NA NA NA 99 0 0% 380 77 16.85% NA NA NA 34 0 0% 192 46 19.33% NA NA NA 51 0 0% 491 100 16.92% NA NA NA 48 0 0% 697 171 19.70% NA NA NA 71 0 0% 271 53 16.36% NA NA NA 202 0 0% 371 111 23.03% NA NA NA 63 0 0% 716 148 17.13% NA NA NA 62 0 0% 281 75 21.07% NA NA NA 67 0 0% 648 NA NA NA 17 0 0% 82 23 21.90% NA NA NA 66 0 0% 385 75 16.30% KNSTRN:NM_00114 2761:exon1:c.G61A: p.E21K,KNSTRN:NM nonsynonymo KNSTRN _001142762:exon1:c NA us SNV .G61A:p.E21K,KNST RN:NM_033286:exo n1:c.G61A:p.E21K NA NA 65 0 0% 382 88 18.72% NA NA 50 0 0% 219 44 16.73% NA NA 46 0 0% 324 63 16.28% 14 31852926 31852926 C T HEATR5A Validation Negative METMCC_627 14 38679415 38679415 T G SSTR1 Validation Negative METMCC_627 14 51371058 51371058 G A ABHD12B Validation Negative METMCC_627 14 54416925 54416925 G A BMP4 Validation Negative METMCC_627 14 54947597 54947597 G A GMFB Validation Negative METMCC_627 14 64408814 64408814 C T SYNE2 Validation Negative METMCC_627 14 64540802 64540802 C T SYNE2 Validation Negative METMCC_627 14 69989051 69989051 G A PLEKHD1 Validation Negative METMCC_627 14 75230560 75230560 A G YLPM1 Validation Negative METMCC_627 14 79175747 79175747 C T NRXN3 Validation Negative METMCC_627 14 89131810 89131810 G A EML5 Validation Negative METMCC_627 14 91409480 91409480 G A RPS6KA5 Validation Negative METMCC_627 14 94964494 94964494 T C SERPINA 12 Validation Negative METMCC_627 14 102891608 102891608 C T TECPR2 Validation Negative METMCC_627 14 105406082 105406082 G A AHNAK2 Validation Negative METMCC_627 15 25222133 25222133 G A SNRPN Validation Negative METMCC_627 15 31342758 31342758 C T TRPM1 A Validation Negative METMCC_627 15 40675097 40675097 G HEATR5A:NM_0154 nonsynonymo 73:exon10:c.G1397A us SNV :p.R466Q SSTR1:NM_001049: nonsynonymo exon3:c.T821G:p.M2 us SNV 74R ABHD12B:NM_1818 14:exon11:c.G832A: nonsynonymo p.D278N,ABHD12B: us SNV NM_001206673:exo n13:c.G1063A:p.D35 5N BMP4:NM_001202:e xon4:c.C1052T:p.S3 51L,BMP4:NM_1308 nonsynonymo 50:exon4:c.C1052T: us SNV p.S351L,BMP4:NM_ 130851:exon4:c.C10 52T:p.S351L GMFB:NM_004124:e nonsynonymo xon5:c.C278T:p.P93 us SNV L SYNE2:NM_015180: exon6:c.C361T:p.P1 nonsynonymo 21S,SYNE2:NM_182 us SNV 914:exon6:c.C361T: p.P121S SYNE2:NM_015180: exon53:c.C10814T:p nonsynonymo .S3605L,SYNE2:NM us SNV _182914:exon53:c.C 10814T:p.S3605L PLEKHD1:NM_0011 nonsynonymo 61498:exon7:c.G607 us SNV A:p.E203K YLPM1:NM_019589: nonsynonymo exon1:c.A368G:p.Y1 us SNV 23C NRXN3:NM_004796: nonsynonymo exon4:c.C290T:p.S9 us SNV 7F EML5:NM_183387:e nonsynonymo xon22:c.C3148T:p.P us SNV 1050S RPS6KA5:NM_0047 55:exon5:c.C560T:p. nonsynonymo S187F,RPS6KA5:N us SNV M_182398:exon5:c. C560T:p.S187F SERPINA12:NM_17 nonsynonymo 3850:exon3:c.A241G us SNV :p.T81A TECPR2:NM_00117 2631:exon6:c.C931T nonsynonymo :p.L311F,TECPR2:N us SNV M_014844:exon6:c. C931T:p.L311F AHNAK2:NM_13842 nonsynonymo 0:exon7:c.C15706T: us SNV p.L5236F SNRPN:NM_003097: exon7:c.G377A:p.G1 26E,SNRPN:NM_02 2805:exon9:c.G377A :p.G126E,SNRPN:N nonsynonymo M_022806:exon9:c. us SNV G377A:p.G126E,SN RPN:NM_022808:ex on9:c.G377A:p.G126 E,SNRPN:NM_0228 07:exon10:c.G377A: p.G126E TRPM1:NM_001252 020:exon11:c.G1342 A:p.D448N,TRPM1: nonsynonymo NM_002420:exon11: us SNV c.G1225A:p.D409N, TRPM1:NM_001252 024:exon12:c.G1291 A:p.D431N NA Validation Negative METMCC_627 Validation Negative METMCC_627 15 41625187 41625187 C T NUSAP1 Validation Negative METMCC_627 15 41813940 41813940 G A RPAP1 NUSAP1:NM_00124 3142:exon1:c.C32T: p.S11F,NUSAP1:NM _001243143:exon1:c .C32T:p.S11F,NUSA nonsynonymo P1:NM_001243144:e NA us SNV xon1:c.C32T:p.S11F, NUSAP1:NM_01635 9:exon1:c.C32T:p.S1 1F,NUSAP1:NM_018 454:exon1:c.C32T:p. S11F RPAP1:NM_015540: nonsynonymo exon21:c.C3034T:p. NA us SNV L1012F 162 20% NA rs620014 48 51 0 0% 961 NA NA NA 48 0 0% 424 112 20.90% NA NA NA 180 0 0% 298 69 18.80% NA NA NA 121 0 0% 437 89 16.92% NA NA NA 88 0 0% 195 49 20.08% G SCAPER:NM_02084 3:exon18:c.A2300C: nonsynonymo SCAPER p.K767T,SCAPER:N NA us SNV M_001145923:exon1 9:c.A1562C:p.K521T NA NA 130 0 0% 295 49 14.24% T ID=COSM1 ADAMTSL3:NM_207 375027;OC ADAMTS nonsynonymo 517:exon6:c.C553T: CURENCE NA L3 us SNV p.R185C =1(large_in testine) NA 66 0 0% 538 101 15.81% NA 64 0 0% 307 74 19.42% NA 40 0 0% 251 48 16.05% NA 67 0 0% 479 142 22.87% NA 64 0 0% 188 57 23.27% NA NA 12 0 0% 98 23 19.01% NA NA 26 0 0% 350 83 19.17% NA NA 50 0 0% 349 88 20.14% NA NA 39 0 0% 535 130 19.55% NA NA NA 86 0 0% 201 35 14.83% NA NA rs147996 284 72 0 0% 367 102 21.75% NA NA NA 91 0 0% 992 169 14.56% NA NA NA 55 0 0% 469 121 20.51% NA NA NA 21 0 0% 150 36 19.35% NA NA NA 24 0 0% 231 46 16.61% 15 41865525 41865525 G T TYRO3 Validation Negative METMCC_627 15 43815050 43815050 C T MAP1A Validation Negative METMCC_627 15 51242253 51242253 G C AP4E1 Validation Negative METMCC_627 15 64067113 64067113 G A HERC1 Validation Negative METMCC_627 15 75692469 75692469 G A SIN3A Validation Negative METMCC_627 Validation Negative METMCC_627 15 15 76995291 84488752 76995291 T 84488752 C TYRO3:NM_006293: nonsynonymo exon17:c.G2005T:p. us SNV V669L MAP1A:NM_002373: nonsynonymo exon4:c.C1379T:p.S us SNV 460F AP4E1:NM_0012521 27:exon13:c.G1210C nonsynonymo :p.D404H,AP4E1:NM us SNV _007347:exon13:c.G 1435C:p.D479H HERC1:NM_003922: nonsynonymo exon2:c.C710T:p.S2 us SNV 37F SIN3A:NM_0011453 57:exon12:c.C1766T :p.P589L,SIN3A:NM nonsynonymo _001145358:exon12: us SNV c.C1766T:p.P589L,S IN3A:NM_015477:ex on12:c.C1766T:p.P5 89L NA Validation Negative METMCC_627 Validation Negative METMCC_627 15 86807552 86807552 C T AGBL1 Validation Negative METMCC_627 15 97328256 97328256 G A SPATA8 Validation Negative METMCC_627 16 2813219 2813219 C T SRRM2 Validation Negative METMCC_627 16 24202490 24202490 G A PRKCB Validation Negative METMCC_627 16 29756208 29756208 G A C16orf54 Validation Negative METMCC_627 16 29818128 29818128 G A MAZ Validation Negative METMCC_627 16 30410232 30410232 G A ZNF48 Validation Negative METMCC_627 16 30780672 30780672 G A RNF40 Validation Negative METMCC_627 16 46729571 46729571 G A ORC6 Validation Negative METMCC_627 16 68024804 68024804 G A Validation Negative METMCC_627 16 70969950 70969950 C T Validation Negative METMCC_627 16 71885697 71885697 C T Validation Negative METMCC_627 16 81927387 81927387 C T Validation Negative METMCC_627 16 87445373 87445373 G A AGBL1:NM_152336: nonsynonymo exon10:c.C1012T:p. NA NA us SNV H338Y SPATA8:NM_17349 nonsynonymo NA 9:exon3:c.G227A:p. NA us SNV R76K ID=COSM2 SRRM2:NM_016333: 54947;OC nonsynonymo exon11:c.C2690T:p. CURENCE NA us SNV P897L =3(urinary_ tract) PRKCB:NM_002738: exon16:c.G1802A:p. nonsynonymo R601Q,PRKCB:NM_ us SNV 212535:exon16:c.G1 802A:p.R601Q ID=COSM4 17095,CO SM417094; NA OCCUREN CE=1(urina ry_tract) C16orf54:NM_17590 nonsynonymo 0:exon2:c.C65T:p.P2 NA us SNV 2L MAZ:NM_001042539 :exon1:c.G106A:p.G 36S,MAZ:NM_00127 6276:exon1:c.G106A nonsynonymo :p.G36S,MAZ:NM_0 NA us SNV 02383:exon1:c.G106 A:p.G36S,MAZ:NM_ 001276275:exon2:c. G37A:p.G13S ZNF48:NM_0012149 07:exon2:c.G1292A: p.R431Q,ZNF48:NM _152652:exon2:c.G1 nonsynonymo 661A:p.R554Q,ZNF4 NA us SNV 8:NM_001214906:ex on3:c.G1661A:p.R55 4Q,ZNF48:NM_0012 14909:exon3:c.G166 1A:p.R554Q RNF40:NM_0012070 34:exon14:c.G2113A :p.E705K,RNF40:NM _001207033:exon16: nonsynonymo c.G2413A:p.E805K, NA us SNV RNF40:NM_0012865 72:exon16:c.G2413A :p.E805K,RNF40:NM _014771:exon16:c.G 2413A:p.E805K ORC6:NM_014321:e nonsynonymo xon5:c.G547A:p.G18 us SNV 3R DPEP2:NM_022355: nonsynonymo DPEP2 exon7:c.C829T:p.P2 us SNV 77S HYDIN:NM_0012709 nonsynonymo HYDIN 74:exon45:c.G7063A us SNV :p.E2355K ATXN1L:NM_001137 nonsynonymo ATXN1L 675:exon3:c.C2054T us SNV :p.S685F PLCG2:NM_002661: nonsynonymo PLCG2 exon12:c.C1060T:p. us SNV R354C ZCCHC14:NM_0151 nonsynonymo ZCCHC14 44:exon12:c.C2543T us SNV :p.P848L 33 3.32% Validation Negative METMCC_627 16 87724128 87724128 G A Validation Negative METMCC_627 16 89862376 89862376 G A Validation Negative METMCC_627 16 90141324 90141324 C T Validation Negative METMCC_627 17 7329633 7329633 C T Validation Negative METMCC_627 17 7369792 7369792 G A Validation Negative METMCC_627 17 7558929 7558929 G A JPH3:NM_020655:ex nonsynonymo on4:c.G2162A:p.S72 us SNV 1N FANCA:NM_000135: exon11:c.C944T:p.P nonsynonymo FANCA 315L,FANCA:NM_00 us SNV 1286167:exon11:c.C 944T:p.P315L PRDM7:NM_001098 nonsynonymo PRDM7 173:exon3:c.G301A: us SNV p.V101I C17orf74:NM_17573 nonsynonymo C17orf74 4:exon3:c.C323T:p.S us SNV 108F ZBTB4:NM_0011288 33:exon3:c.C329T:p. nonsynonymo ZBTB4 S110F,ZBTB4:NM_0 us SNV 20899:exon3:c.C329 T:p.S110F ATP1B2:NM_001678 nonsynonymo ATP1B2 :exon6:c.G694A:p.G us SNV 232S TP53:NM_00112611 5:exon4:c.G439A:p. G147R,TP53:NM_00 1126116:exon4:c.G4 39A:p.G147R,TP53: NM_001126117:exo n4:c.G439A:p.G147 R,TP53:NM_001276 697:exon4:c.G358A: p.G120R,TP53:NM_ 001276698:exon4:c. G358A:p.G120R,TP 53:NM_001276699:e xon4:c.G358A:p.G12 nonsynonymo TP53 0R,TP53:NM_00112 us SNV 6118:exon7:c.G718A :p.G240R,TP53:NM_ 000546:exon8:c.G83 5A:p.G279R,TP53:N M_001126112:exon8 :c.G835A:p.G279R,T P53:NM_001126113: exon8:c.G835A:p.G2 79R,TP53:NM_0011 26114:exon8:c.G835 A:p.G279R,TP53:NM _001276695:exon8:c .G718A:p.G240R,TP 53:NM 001276696:e KDM6B:NM_001080 nonsynonymo KDM6B 424:exon11:c.C1379 us SNV T:p.S460F CFAP52:NM_001080 556:exon3:c.G230A: nonsynonymo CFAP52 p.R77K,CFAP52:NM us SNV _145054:exon4:c.G4 34A:p.R145K FBXO47:NM_00100 nonsynonymo FBXO47 8777:exon10:c.G109 us SNV 6A:p.E366K PLXDC1:NM_02040 nonsynonymo PLXDC1 5:exon3:c.G256A:p. us SNV E86K KRT28:NM_181535: nonsynonymo KRT28 exon1:c.C170T:p.P5 us SNV 7L KRT12:NM_000223: nonsynonymo KRT12 exon6:c.C1103T:p.S us SNV 368F JPH3 Validation Negative METMCC_627 17 7577103 7577103 C T Validation Negative METMCC_627 17 7750985 7750985 C T Validation Negative METMCC_627 17 9497536 9497536 G A Validation Negative METMCC_627 17 37094973 37094973 C T Validation Negative METMCC_627 17 37265644 37265644 C T Validation Negative METMCC_627 17 38955976 38955976 G A Validation Negative METMCC_627 17 39019588 39019588 G A Validation Negative METMCC_627 17 40337374 40337374 G A HCRT Validation Negative METMCC_627 17 40963758 40963758 G A BECN1 Validation Negative METMCC_627 17 43517586 43517586 G C Validation Negative METMCC_627 17 55183646 55183646 C T NA NA NA 28 0 0% 323 103 24.18% NA NA NA 62 0 0% 296 88 22.92% NA NA NA 15 0 0% 102 24 19.05% NA NA NA 44 0 0% 476 118 19.87% NA NA NA 18 0 0% 211 40 15.94% NA NA NA 34 0 0% 470 121 20.47% ID=COSM4 4603;OCC URENCE= 1(skin),2(la rge_intesti NA ne),1(urina ry_tract),1(l iver),1(perit oneum),1(l ung) NA 44 0 0% 289 71 19.72% NA NA NA 42 0 0% 306 85 21.74% NA NA NA 47 0 0% 143 30 17.34% NA NA NA 75 0 0% 108 15 12.20% NA NA NA 30 0 0% 306 71 18.83% NA NA NA 77 0 0% 545 150 21.58% NA NA NA 30 0 0% 346 92 nonsynonymo HCRT:NM_001524:e NA us SNV xon1:c.C10T:p.P4S NA NA 51 0 0% 257 55 17.63% NA NA 81 0 0% 189 52 21.58% NA NA 27 0 0% 168 66 28.21% NA rs377272 798 51 0 0% 591 121 16.99% NA NA 21 0 0% 556 142 20.34% NA NA 12 0 0% 62 14 18.42% BECN1:NM_003766: nonsynonymo exon11:c.C1099T:p. NA us SNV H367Y PLEKHM1:NM_0147 nonsynonymo PLEKHM1 98:exon10:c.C2844G NA us SNV :p.N948K AKAP1 Validation Negative METMCC_627 17 63221382 63221382 G A RGS9 Validation Negative METMCC_627 17 73559521 73559521 C T LLGL2 AKAP1:NM_003488: exon2:c.C821T:p.S2 74L,AKAP1:NM_001 nonsynonymo 242902:exon3:c.C82 NA us SNV 1T:p.S274L,AKAP1: NM_001242903:exo n3:c.C821T:p.S274L RGS9:NM_0010819 55:exon18:c.G1661A nonsynonymo :p.S554N,RGS9:NM NA us SNV _003835:exon18:c.G 1670A:p.S557N LLGL2:NM_0010150 02:exon8:c.C803T:p. P268L,LLGL2:NM_0 nonsynonymo 01031803:exon8:c.C NA us SNV 803T:p.P268L,LLGL 2:NM_004524:exon8 :c.C803T:p.P268L 21% Validation Negative METMCC_627 17 73886871 73886871 C T TRIM65 nonsynonymo us SNV Validation Negative METMCC_627 17 76795838 76795838 G A USP36 nonsynonymo us SNV Validation Negative METMCC_627 17 79077822 79077822 C T BAIAP2 nonsynonymo us SNV Validation Negative METMCC_627 17 81043044 81043044 G A METRNL nonsynonymo us SNV Validation Negative METMCC_627 18 335194 335194 C T COLEC12 nonsynonymo us SNV Validation Negative METMCC_627 18 9256216 9256216 C T ANKRD12 nonsynonymo us SNV Validation Negative METMCC_627 18 10979646 10979646 C T PIEZO2 nonsynonymo us SNV Validation Negative METMCC_627 18 67266623 67266623 A G DOK6 nonsynonymo us SNV Validation Negative METMCC_627 19 501786 501786 C A MADCAM nonsynonymo 1 us SNV Validation Negative METMCC_627 19 501802 501802 G C MADCAM nonsynonymo 1 us SNV Validation Negative METMCC_627 19 1122760 1122760 G A SBNO2 nonsynonymo us SNV Validation Negative METMCC_627 19 1646383 1646383 G A TCF3 nonsynonymo us SNV Validation Negative METMCC_627 19 5733907 5733907 C T CATSPE RD nonsynonymo us SNV Validation Negative METMCC_627 19 5778482 5778482 C T CATSPE RD nonsynonymo us SNV Validation Negative METMCC_627 19 6466516 6466516 C T CRB3 nonsynonymo us SNV Validation Negative METMCC_627 19 7832471 7832471 G A CLEC4M nonsynonymo us SNV Validation Negative METMCC_627 19 9046745 9046745 C T MUC16 nonsynonymo us SNV Validation Negative METMCC_627 19 9089725 9089725 C T MUC16 nonsynonymo us SNV DNM2 Validation Negative METMCC_627 19 10870461 10870461 T A TRIM65:NM_001256 124:exon5:c.G1477A :p.V493M,TRIM65:N M_173547:exon6:c. G1543A:p.V515M USP36:NM_025090: exon18:c.C3035T:p. A1012V BAIAP2:NM_001144 888:exon9:c.C980T: p.P327L,BAIAP2:NM _006340:exon9:c.C9 80T:p.P327L,BAIAP 2:NM_017450:exon9 :c.C980T:p.P327L,B AIAP2:NM_017451:e xon9:c.C980T:p.P32 7L METRNL:NM_00100 4431:exon2:c.G401A :p.G134E COLEC12:NM_1303 86:exon6:c.G1364A: p.G455E ANKRD12:NM_0010 83625:exon8:c.C288 2T:p.S961L,ANKRD 12:NM_001204056:e xon8:c.C2882T:p.S9 61L,ANKRD12:NM_0 15208:exon9:c.C295 1T:p.S984L PIEZO2:NM_022068 :exon3:c.G173A:p.R 58Q DOK6:NM_152721:e xon3:c.A178G:p.T60 A MADCAM1:NM_130 760:exon4:c.C785A: p.P262Q MADCAM1:NM_130 760:exon4:c.G801C: p.K267N SBNO2:NM_001100 122:exon6:c.C640T: p.R214C,SBNO2:NM _014963:exon9:c.C8 11T:p.R271C TCF3:NM_00113613 9:exon2:c.C116T:p.S 39F,TCF3:NM_0032 00:exon3:c.C116T:p. S39F CATSPERD:NM_152 784:exon5:c.C317T: p.S106L CATSPERD:NM_152 784:exon22:c.C2192 T:p.S731F CRB3:NM_139161:e xon4:c.C196T:p.L66 F,CRB3:NM_174881 :exon4:c.C196T:p.L6 6F CLEC4M:NM_00114 4906:exon5:c.G598A :p.E200K,CLEC4M:N M_001144907:exon5 :c.G805A:p.E269K,C LEC4M:NM_001144 904:exon6:c.G853A: p.E285K,CLEC4M:N M_014257:exon6:c. G1006A:p.E336K,CL EC4M:NM_0011449 05:exon7:c.G934A:p. E312K,CLEC4M:NM _001144909:exon7:c .G868A:p.E290K,CL EC4M:NM_0011449 10:exon7:c.G937A:p. E313K MUC16:NM_024690: exon5:c.G34886A:p. G11629E MUC16:NM_024690: exon1:c.G2090A:p.G 697E NA NA NA 34 0 0% 188 40 17.54% NA NA NA 68 0 0% 224 62 21.68% 0.0002 NA 28 0 0% 342 72 17.39% NA NA NA NA 30 0 0% 474 101 17.57% NA NA NA 43 0 0% 600 144 19.35% rs186915 035 193 0 0% 294 60 16.95% NA 0.0002 NA NA NA 104 0 0% 237 38 13.82% NA NA NA 73 0 0% 121 30 19.87% NA NA rs772645 53 20 0 0% 194 12 5.83% NA NA rs759058 09 17 0 0% 219 10 4.37% NA NA NA 12 0 0% 104 19 15.45% NA NA NA 10 0 0% 58 10 14.71% NA NA NA 85 0 0% 180 50 21.74% NA NA NA 39 0 0% 261 67 20.43% NA NA NA 33 0 0% 427 103 19.43% NA NA NA 33 0 0% 333 84 20.14% NA NA NA 43 0 0% 447 125 21.85% NA NA NA 48 0 0% 348 88 20.18% DNM2:NM_0010053 60:exon2:c.T209A:p. I70N,DNM2:NM_001 005361:exon2:c.T20 9A:p.I70N,DNM2:NM nonsynonymo _001005362:exon2:c NA us SNV .T209A:p.I70N,DNM 2:NM_001190716:ex on2:c.T209A:p.I70N, DNM2:NM_004945:e xon2:c.T209A:p.I70N NA NA 56 0 0% 207 41 16.53% Validation Negative METMCC_627 19 11465370 11465370 C T Validation Negative METMCC_627 19 11892189 11892189 C T Validation Negative METMCC_627 19 11917805 11917805 G A Validation Negative METMCC_627 19 14070415 14070415 C T Validation Negative METMCC_627 19 14557359 14557359 C T Validation Negative METMCC_627 19 15075156 15075156 T C Validation Negative METMCC_627 19 17743939 17743939 T A Validation Negative METMCC_627 19 19243513 19243513 G A Validation Negative METMCC_627 19 19431291 19431291 C T Validation Negative METMCC_627 19 22157237 22157237 G A Validation Negative METMCC_627 19 22496991 22496991 C T Validation Negative METMCC_627 19 34955029 34955029 C T Validation Negative METMCC_627 19 35941503 35941503 C T Validation Negative METMCC_627 19 36277873 36277873 C T Validation Negative METMCC_627 19 38379249 38379249 C T Validation Negative METMCC_627 19 38708489 38708489 G T Validation Negative METMCC_627 19 38861335 38861335 C T Validation Negative METMCC_627 19 38948722 38948722 G A Validation Negative METMCC_627 19 40929022 40929022 G T Validation Negative METMCC_627 19 41019232 41019232 G A Validation Negative METMCC_627 19 41076579 41076579 G A Validation Negative METMCC_627 19 41383112 41383112 C T Validation Negative METMCC_627 19 42219749 42219749 G A CCDC159:NM_0010 nonsynonymo 80503:exon10:c.C88 NA us SNV 7T:p.P296L ID=COSM1 129997,CO SM112999 ZNF441:NM_152355 nonsynonymo 8;OCCUR ZNF441 :exon4:c.C1550T:p.S us SNV ENCE=1(ur 517L inary_tract) ,1(prostate ) ZNF491:NM_152356 nonsynonymo ZNF491 :exon3:c.G1037A:p. NA us SNV G346E DCAF15:NM_13835 nonsynonymo DCAF15 3:exon8:c.C1241T:p. NA us SNV S414F PKN1:NM_002741:e xon4:c.C596T:p.P19 nonsynonymo PKN1 9L,PKN1:NM_21356 NA us SNV 0:exon4:c.C614T:p.P 205L SLC1A6:NM_005071 :exon4:c.A566G:p.N 189S,SLC1A6:NM_0 nonsynonymo 01272088:exon5:c.A SLC1A6 NA us SNV 566G:p.N189S,SLC1 A6:NM_001272087:e xon7:c.A566G:p.N18 9S UNC13A:NM_00108 nonsynonymo UNC13A 0421:exon26:c.A327 NA us SNV 9T:p.Q1093H TMEM161A:NM_001 256766:exon4:c.C23 TMEM161 nonsynonymo 9T:p.A80V,TMEM16 NA A us SNV 1A:NM_017814:exon 4:c.C239T:p.A80V nonsynonymo SUGP1:NM_172231: SUGP1 NA us SNV exon1:c.G15A:p.M5I ZNF208:NM_007153 nonsynonymo ZNF208 :exon4:c.C599T:p.S2 NA us SNV 00F ZNF729:NM_001242 nonsynonymo ZNF729 680:exon4:c.C772T: NA us SNV p.H258Y UBA2:NM_005499:e nonsynonymo UBA2 xon15:c.C1597T:p.L NA us SNV 533F FFAR2:NM_005306: nonsynonymo FFAR2 exon1:c.C887T:p.S2 NA us SNV 96F ARHGAP33:NM_001 172630:exon19:c.C2 ARHGAP nonsynonymo 093T:p.P698L,ARHG NA 33 us SNV AP33:NM_052948:ex on20:c.C2018T:p.P6 73L CCDC159 WDR87 WDR87:NM_001291 088:exon6:c.G5062A nonsynonymo :p.E1688K,WDR87:N NA us SNV M_031951:exon6:c. G4945A:p.E1649K DPF1:NM_00113515 5:exon6:c.C625A:p. R209S,DPF1:NM_00 1135156:exon6:c.C3 nonsynonymo 79A:p.R127S,DPF1: DPF1 NA us SNV NM_001289978:exo n6:c.C625A:p.R209S ,DPF1:NM_004647:e xon6:c.C625A:p.R20 9S ID=COSM7 CATSPERG:NM_02 CATSPE nonsynonymo 0021;OCC 1185:exon29:c.C338 RG us SNV URENCE= 3T:p.S1128F 1(ovary) RYR1:NM_000540:e xon18:c.G1957A:p.E nonsynonymo RYR1 653K,RYR1:NM_001 NA us SNV 042723:exon18:c.G1 957A:p.E653K SERTAD1:NM_0133 nonsynonymo SERTAD1 76:exon2:c.C432A:p. NA us SNV S144R SPTBN4:NM_02097 nonsynonymo SPTBN4 1:exon14:c.G2536A: NA us SNV p.G846R SPTBN4:NM_02097 nonsynonymo SPTBN4 1:exon33:c.G7264A: NA us SNV p.E2422K CYP2A7:NM_03058 9:exon6:c.G991A:p. nonsynonymo CYP2A7 D331N,CYP2A7:NM NA us SNV _000764:exon7:c.G1 144A:p.D382N CEACAM5:NM_0012 91484:exon4:c.G884 CEACAM nonsynonymo A:p.G295E,CEACAM NA 5 us SNV 5:NM_004363:exon4 :c.G884A:p.G295E NA NA 62 0 0% 574 121 17.41% NA NA 84 0 0% 205 48 18.97% 0.0002 NA 63 1 1.56% 96 26 21.31% NA NA 21 0 0% 298 86 22.40% NA NA 17 0 0% 86 23 21.10% NA NA 50 0 0% 222 47 17.47% NA NA 59 0 0% 458 110 19.37% NA NA 28 0 0% 178 27 13.17% NA NA 33 0 0% 215 51 19.17% 0.0002 NA 14 0 0% 11 12 52.17% NA NA 44 0 0% 56 10 15.15% NA NA 172 0 0% 348 88 20.18% NA NA 19 0 0% 139 33 19.19% NA NA 18 0 0% 187 49 20.76% NA NA 77 0 0% 738 196 20.99% NA NA 32 0 0% 270 59 17.93% NA NA 37 0 0% 361 83 18.69% NA NA 10 0 0% 192 50 20.66% NA NA 37 0 0% 336 98 22.58% NA NA 22 0 0% 259 67 20.55% NA NA 38 0 0% 261 57 17.92% NA NA 44 0 0% 158 39 19.80% NA NA 53 0 0% 418 87 17.23% Validation Negative METMCC_627 19 42814710 42814710 C T PRR19 Validation Negative METMCC_627 19 42856407 42856407 C T MEGF8 Validation Negative METMCC_627 19 42872706 42872706 A G MEGF8 PRR19:NM_199285: nonsynonymo exon3:c.C889T:p.P2 NA us SNV 97S MEGF8:NM_001410: exon18:c.C2948T:p. nonsynonymo S983F,MEGF8:NM_ NA us SNV 001271938:exon19:c .C3149T:p.S1050F MEGF8:NM_001410: exon35:c.A6172G:p. nonsynonymo T2058A,MEGF8:NM NA us SNV _001271938:exon36: c.A6373G:p.T2125A Validation Negative METMCC_627 19 44933793 44933793 C T ZNF229 nonsynonymo us SNV Validation Negative METMCC_627 19 49674865 49674865 C T TRPM4 nonsynonymo us SNV Validation Negative METMCC_627 19 50792756 50792756 G A MYH14 nonsynonymo us SNV Validation Negative METMCC_627 19 51021220 51021220 C T LRRC4B nonsynonymo us SNV Validation Negative METMCC_627 19 51919263 51919263 G T SIGLEC1 nonsynonymo 0 us SNV Validation Negative METMCC_627 19 54780769 54780769 G C LILRB2 nonsynonymo us SNV Validation Negative METMCC_627 19 55086890 55086890 C T LILRA2 nonsynonymo us SNV Validation Negative METMCC_627 19 55363687 55363687 C T KIR3DL2 nonsynonymo us SNV Validation Negative METMCC_627 19 55439072 55439072 A G NLRP7 nonsynonymo us SNV Validation Negative METMCC_627 19 55995454 55995454 C T ZNF628 nonsynonymo us SNV Validation Negative METMCC_627 19 56369231 56369231 G A NLRP4 nonsynonymo us SNV Validation Negative METMCC_627 19 57089310 57089310 G A ZNF470 nonsynonymo us SNV Validation Negative METMCC_627 19 57641808 57641808 G A USP29 nonsynonymo us SNV Validation Negative METMCC_627 19 57868138 57868138 C T ZNF304 nonsynonymo us SNV ZNF229:NM_001278 510:exon6:c.G1145A :p.R382Q,ZNF229:N M_014518:exon6:c. G1163A:p.R388Q TRPM4:NM_001195 227:exon8:c.C889T: p.P297S,TRPM4:NM _017636:exon8:c.C8 89T:p.P297S MYH14:NM_024729: exon33:c.G4693A:p. V1565M,MYH14:NM _001077186:exon34: c.G4717A:p.V1573M ,MYH14:NM_001145 809:exon35:c.G4816 A:p.V1606M LRRC4B:NM_00108 0457:exon3:c.G1750 A:p.A584T SIGLEC10:NM_0011 71156:exon5:c.C739 A:p.P247T,SIGLEC1 0:NM_001171157:ex on5:c.C913A:p.P305 T,SIGLEC10:NM_00 1171158:exon5:c.C7 69A:p.P257T,SIGLE C10:NM_001171159: exon5:c.C739A:p.P2 47T,SIGLEC10:NM_ 033130:exon5:c.C91 3A:p.P305T LILRB2:NM_001278 404:exon9:c.C1027G :p.L343V,LILRB2:NM _001278405:exon9:c .C1375G:p.L459V,LI LRB2:NM_00108097 8:exon10:c.C1372G: p.L458V,LILRB2:NM _001278403:exon10: c.C1372G:p.L458V,L ILRB2:NM_005874:e xon10:c.C1375G:p.L 459V LILRA2:NM_001290 270:exon4:c.C787T: p.L263F,LILRA2:NM _001130917:exon5:c .C823T:p.L275F,LIL RA2:NM_001290271 :exon6:c.C823T:p.L2 75F,LILRA2:NM_006 866:exon6:c.C823T: p.L275F KIR3DL2:NM_00124 2867:exon3:c.C305T :p.S102F,KIR3DL2:N M_006737:exon3:c. C305T:p.S102F NLRP7:NM_0011272 55:exon10:c.T2882C :p.L961P,NLRP7:NM _139176:exon10:c.T 2798C:p.L933P ZNF628:NM_033113 :exon3:c.C2894T:p.P 965L NLRP4:NM_134444: exon3:c.G472A:p.G1 58R ZNF470:NM_001001 668:exon6:c.G1513A :p.G505R USP29:NM_020903: exon4:c.G1765A:p.D 589N ZNF304:NM_020657 :exon3:c.C901T:p.H3 01Y,ZNF304:NM_00 1290318:exon4:c.C1 042T:p.H348Y,ZNF3 04:NM_001290319:e xon4:c.C775T:p.H25 9Y NA NA NA 28 0 0% 693 156 18.37% NA NA 29 0 0% 194 43 18.14% NA NA 34 0 0% 300 78 20.63% rs148444 351 44 0 0% 512 119 18.86% 0.000799 NA NA NA 27 0 0% 271 65 19.35% NA NA NA 37 0 0% 317 74 18.93% NA NA NA 13 0 0% 225 56 19.93% NA NA rs725895 1 19 0 0% 337 13 NA NA rs139961 541 22 0 0% 252 38 13.10% rs724829 6 19 0 0% 105 15 12.50% NA 0.01857 3.71% NA NA NA 38 0 0% 361 80 18.14% NA NA NA 38 0 0% 311 57 15.49% NA NA NA 21 0 0% 293 65 18.16% NA NA NA 47 0 0% 451 259 36.48% NA NA NA 60 0 0% 230 43 15.75% NA NA NA 59 0 0% 402 86 17.62% NA NA NA 111 0 0% 518 80 13.38% Validation Negative METMCC_627 20 23586497 23586497 G A CST9 nonsynonymo CST9:NM_00100869 NA us SNV 3:exon1:c.C5T:p.S2L rs752043 80 24 0 0% 220 59 21.15% NA NA 29 0 0% 171 60 25.97% NA NA 32 0 0% 324 98 23.22% NA rs610045 5 31 0 0% 164 38 18.81% NA NA 13 0 0% 102 29 22.14% NA NA 62 0 0% 253 80 24.02% NA NA 134 0 0% 143 56 28.14% NA NA 55 0 0% 40 15 27.27% NA NA 93 0 0% 102 27 20.93% NA NA NA 196 0 0% 472 92 16.31% NA NA NA 71 0 0% 311 78 20.05% NA NA NA 40 0 0% 681 130 16.03% NA NA NA 64 0 0% 386 80 17.17% ID=COSM3 27799;OC NA CURENCE =1(skin) NA 25 0 0% 108 22 16.92% NA NA 50 0 0% 182 47 20.52% NA rs151307 781 36 0 0% 139 34 19.65% NA NA 23 0 0% 147 39 20.97% Validation Negative METMCC_627 20 34806882 34806882 C T EPB41L1:NM_00125 8331:exon16:c.C204 7T:p.P683S,EPB41L 1:NM_177996:exon1 6:c.C2047T:p.P683S ,EPB41L1:NM_0012 nonsynonymo EPB41L1 58330:exon17:c.C18 NA us SNV 13T:p.P605S,EPB41 L1:NM_012156:exon 18:c.C2353T:p.P785 S,EPB41L1:NM_001 258329:exon19:c.C2 350T:p.P784S Validation Negative METMCC_627 20 36869827 36869827 C T KIAA1755 Validation Negative METMCC_627 20 37255856 37255856 G A Validation Negative METMCC_627 20 39986647 39986647 C T KIAA1755:NM_0010 nonsynonymo 29864:exon3:c.G706 NA us SNV A:p.G236S ARHGAP40:NM_001 ARHGAP nonsynonymo 164431:exon3:c.G55 NA 40 us SNV 3A:p.G185R LPIN3:NM_022896:e nonsynonymo LPIN3 xon17:c.C2165T:p.P NA us SNV 722L Validation Negative METMCC_627 20 42169655 42169655 G A L3MBTL1:NM_01547 8:exon19:c.G2206A: nonsynonymo L3MBTL1 p.D736N,L3MBTL1: NA us SNV NM_032107:exon22: c.G2410A:p.D804N Validation Negative METMCC_627 20 45978611 45978611 G A ZMYND8 Validation Negative METMCC_627 20 58457220 58457220 C T SYCP2 Validation Negative METMCC_627 21 17163976 17163976 T C USP25 ZMYND8:NM_00128 nonsynonymo 1772:exon3:c.C23T: NA us SNV p.S8F SYCP2:NM_014258: nonsynonymo exon26:c.G2530A:p. NA us SNV E844K USP25:NM_0012830 41:exon5:c.T548C:p. V183A,USP25:NM_0 nonsynonymo 01283042:exon5:c.T NA us SNV 548C:p.V183A,USP2 5:NM_013396:exon5 :c.T548C:p.V183A USP25:NM_013396: exon19:c.C2407T:p. R803C,USP25:NM_0 01283042:exon20:c. C2503T:p.R835C,US P25:NM_001283041: exon21:c.C2617T:p. R873C GRIK1:NM_175611: exon15:c.G2419A:p. E807K,GRIK1:NM_0 00830:exon16:c.G24 64A:p.E822K KRTAP261:NM_203405:exon1 :c.G406A:p.G136R KCNJ6:NM_002240: exon3:c.C863T:p.P2 88L Validation Negative METMCC_627 21 17236656 17236656 C T USP25 nonsynonymo us SNV Validation Negative METMCC_627 21 30927516 30927516 C T GRIK1 nonsynonymo us SNV Validation Negative METMCC_627 21 31691948 31691948 C T KRTAP26- nonsynonymo 1 us SNV Validation Negative METMCC_627 21 39086597 39086597 G A KCNJ6 nonsynonymo us SNV ERG ERG:NM_00113615 5:exon5:c.G398A:p. G133E,ERG:NM_18 2918:exon6:c.G674A :p.G225E,ERG:NM_ 001136154:exon8:c. nonsynonymo G695A:p.G232E,ER us SNV G:NM_001243428:ex on8:c.G695A:p.G232 E,ERG:NM_0012434 32:exon8:c.G695A:p. G232E,ERG:NM_00 1291391:exon8:c.G6 95A:p.G232E MX1:NM_001178046 :exon12:c.A1288T:p. S430C,MX1:NM_002 nonsynonymo 462:exon14:c.A1288 NA us SNV T:p.S430C,MX1:NM_ 001144925:exon16:c .A1288T:p.S430C Validation Negative METMCC_627 21 39772567 39772567 C T Validation Negative METMCC_627 21 42821078 42821078 A T MX1 Validation Negative METMCC_627 22 37628864 37628864 G A RAC2 Validation Negative METMCC_627 22 38528875 38528875 C T PLA2G6 RAC2:NM_002872:e nonsynonymo xon3:c.C202T:p.R68 NA us SNV W PLA2G6:NM_001004 426:exon7:c.G1040A :p.G347E,PLA2G6:N nonsynonymo M_001199562:exon7 NA us SNV :c.G1040A:p.G347E, PLA2G6:NM_003560 :exon7:c.G1040A:p. G347E 0.013978 TMEM184B:NM_001 195071:exon8:c.C82 6T:p.P276S,TMEM1 84B:NM_012264:exo n8:c.C826T:p.P276S ,TMEM184B:NM_00 1195072:exon9:c.C6 28T:p.P210S TNRC6B:NM_01508 8:exon14:c.A3920T: p.H1307L,TNRC6B: NM_001162501:exo n16:c.A4250T:p.H14 17L,TNRC6B:NM_00 1024843:exon17:c.A 1838T:p.H613L SEPT3:NM_019106: exon10:c.C1006T:p. P336S,SEPT3:NM_1 45733:exon10:c.C10 06T:p.P336S ATP5L2:NM_001165 877:exon1:c.A172G: p.S58G TTC38:NM_017931: exon5:c.G539A:p.S1 80N Validation Negative METMCC_627 22 38620948 38620948 G A TMEM184 nonsynonymo B us SNV Validation Negative METMCC_627 22 40704645 40704645 A T TNRC6B Validation Negative METMCC_627 22 42390713 42390713 C T Validation Negative METMCC_627 22 43036109 43036109 T C ATP5L2 nonsynonymo us SNV Validation Negative METMCC_627 22 46671318 46671318 G A TTC38 nonsynonymo us SNV CPT1B CPT1B:NM_0011451 34:exon16:c.C1973T :p.S658F,CPT1B:NM _001145137:exon16: c.C2075T:p.S692F,C PT1B:NM_00114513 5:exon17:c.C2075T: p.S692F,CPT1B:NM nonsynonymo _001145136:exon17: NA us SNV c.C1832T:p.S611F,C PT1B:NM_004377:e xon17:c.C2075T:p.S 692F,CPT1B:NM_15 2245:exon17:c.C207 5T:p.S692F,CPT1B: NM_152246:exon17: c.C2075T:p.S692F Validation Negative METMCC_627 22 51008789 51008789 G A 3-Sep nonsynonymo us SNV nonsynonymo us SNV Validation Negative METMCC_627 X 18234685 18234685 G A BEND2 nonsynonymo us SNV Validation Negative METMCC_627 X 32398682 32398682 C T DMD nonsynonymo us SNV Validation Negative METMCC_627 X 50377406 50377406 C T SHROOM nonsynonymo 4 us SNV Validation Negative METMCC_627 X 56291860 56291860 C T KLF8 nonsynonymo us SNV 100629526 100629526 G A BTK nonsynonymo us SNV Validation Negative METMCC_627 X Validation Negative METMCC_627 X 107415758 107415758 G A BEND2:NM_001184 767:exon2:c.C194T: p.P65L,BEND2:NM_ 153346:exon2:c.C19 4T:p.P65L DMD:NM_004011:ex on6:c.G767A:p.R256 K,DMD:NM_004012: exon6:c.G758A:p.R2 53K,DMD:NM_00010 9:exon34:c.G4766A: p.R1589K,DMD:NM_ 004006:exon34:c.G4 790A:p.R1597K,DM D:NM_004009:exon3 4:c.G4778A:p.R1593 K,DMD:NM_004010: exon34:c.G4421A:p. R1474K SHROOM4:NM_020 717:exon4:c.G1667A :p.G556E KLF8:NM_007250:ex on3:c.C329T:p.P110 L,KLF8:NM_0011592 96:exon4:c.C329T:p. P110L BTK:NM_000061:ex on3:c.C238T:p.P80S ,BTK:NM_00128734 4:exon3:c.C340T:p.P 114S,BTK:NM_0012 87345:exon4:c.C238 T:p.P80S NA NA NA 16 0 0% 152 35 18.72% NA NA NA 81 1 1.22% 332 82 19.81% NA NA NA 54 0 0% 405 76 15.80% NA NA NA 42 0 0% 85 32 27.35% NA NA NA 77 0 0% 246 56 18.54% 0.000399 NA 25 0 0% 273 58 17.52% 59 0 0% 139 74 34.74% 103 0 0% 306 168 35.44% NA NA NA NA NA rs360729 30 NA NA NA 28 0 0% 359 190 34.61% NA NA NA 32 0 0% 330 235 41.59% NA NA NA 58 0 0% 114 63 35.59% COL4A6 COL4A6:NM_00128 7759:exon32:c.C314 3T:p.S1048L,COL4A 6:NM_001287760:ex on32:c.C3143T:p.S1 048L,COL4A6:NM_0 nonsynonymo 01847:exon32:c.C31 NA us SNV 46T:p.S1049L,COL4 A6:NM_033641:exon 32:c.C3143T:p.S104 8L,COL4A6:NM_001 287758:exon33:c.C3 194T:p.S1065L NA NA 21 0 0% 63 30 32.26% NA 21 0 0% 153 125 44.96% NA 13 0 0% 44 31 41.33% Validation Negative METMCC_627 X 111155629 111155629 C T TRPC5 ID=COSM2 TRPC5:NM_012471: 33650;OC nonsynonymo exon3:c.G790A:p.E2 NA CURENCE us SNV 64K =1(skin) Validation Negative METMCC_627 X 151935448 151935448 C T MAGEA3 MAGEA3:NM_00536 nonsynonymo 2:exon3:c.G719A:p. NA us SNV G240E NA Validation Negative METMCC_627 Validation Negative METMCC_627 7 17 6426892 7577111 6426892 C 7577111 G T T RAC1 RAC1:NM_006908:e nonsynonymo xon2:c.C85T:p.P29S us SNV ,RAC1:NM_018890:e xon2:c.C85T:p.P29S ID=COSM1 167878,CO SM125734; OCCUREN CE=3(NS), 1(upper_ae NA rodigestive _tract),1(br east),38(sk in),1(endo metrium) NA 39 0 0% 37 TP53 TP53:NM_00112611 5:exon4:c.C431A:p.A 144D,TP53:NM_001 126116:exon4:c.C43 1A:p.A144D,TP53:N M_001126117:exon4 :c.C431A:p.A144D,T P53:NM_001276697: exon4:c.C350A:p.A1 17D,TP53:NM_0012 76698:exon4:c.C350 A:p.A117D,TP53:NM _001276699:exon4:c .C350A:p.A117D,TP nonsynonymo 53:NM_001126118:e us SNV xon7:c.C710A:p.A23 7D,TP53:NM_00054 6:exon8:c.C827A:p.A 276D,TP53:NM_001 126112:exon8:c.C82 7A:p.A276D,TP53:N M_001126113:exon8 :c.C827A:p.A276D,T P53:NM_001126114: exon8:c.C827A:p.A2 76D,TP53:NM_0012 76695:exon8:c.C710 A:p.A237D,TP53:NM 001276696:exon8:c ID=COSM4 5268,COS M393936, COSM173 2585;OCC URENCE= 1(breast),1 NA (urinary_tra ct),3(lung), 1(central_n ervous_sys tem),1(oes ophagus),1 (NS) NA 44 1 2.22% 256 64 NM_001080510:exo n4:c.3231G>A,NM_00120698 3:exon4:c.3231G>A,NM_00120698 7:exon3:c.1221G>A,NM_00120698 4:exon4:c.3231G>A,NM_00120698 5:exon3:c.1221G>A,NM_00120698 6:exon3:c.122-1G>A ID=COSM3 820665;OC NA CURENCE =1(breast) NA 166 0 0% 292 53 15.36% NA NA NA 87 0 0% 340 70 17.07% NA NA NA 15 0 0% 136 60 30.61% 0.0002 NA 45 0 0% 169 43 20.28% Validation Negative METMCC_627 17 74729374 74729374 G A METTL23 splicing Validation Negative METMCC_627 7 12617688 12617688 G A SCIN splicing 67937053 67937053 G A STARD8 splicing Validation Negative METMCC_627 X Validation Negative METMCC_627 4 20490618 20490618 G A SLIT2 splicing Validation Negative METMCC_627 21 44840889 44840889 C T SIK1 splicing Validation Negative METMCC_627 9 104086306 104086306 G A LPPR1 splicing Validation Negative METMCC_627 1 A PADI6 splicing Validation Negative METMCC_627 Validation Negative METMCC_627 17720795 17720795 G 1 248224426 248224426 G 2 179473138 179473138 C A T OR2L3 TTN NM_001112706:exo n2:c.200-1G>A NM_001142503:exo n6:c.2981G>A,NM_014725:e xon5:c.581G>A,NM_00114250 4:exon5:c.58-1G>A NM_001289135:exo n8:c.787+1G>A NM_173354:exon8:c .748+1G>A NM_207299:exon8:c .9461G>A,NM_017753:e xon8:c.946-1G>A NM_207421:exon12: c.1183-1G>A NA 8 17.78% 20% NA NA rs113817 765 11 0 0% 147 24 14.04% NA NA NA 74 0 0% 323 73 18.43% NA NA NA 45 0 0% 389 69 15.07% stopgain ID=COSM1 OR2L3:NM_0010046 560714;OC 87:exon1:c.G443A:p. CURENCE NA =1(large_in W148X testine) NA 36 0 0% 136 22 13.92% stopgain TTN:NM_003319:ex on103:c.G25277A:p. W8426X,TTN:NM_1 33432:exon104:c.G2 5652A:p.W8551X,TT N:NM_133437:exon1 04:c.G25853A:p.W8 618X,TTN:NM_1333 NA 78:exon224:c.G4476 8A:p.W14923X,TTN: NM_001256850:exo n225:c.G47549A:p. W15850X,TTN:NM_ 001267550:exon275: c.G52472A:p.W1749 1X NA 110 0 0% 383 64 14.32% NA Validation Negative METMCC_627 2 179639094 179639094 C T TTN stopgain Validation Negative METMCC_627 3 139237288 139237288 C T RBP1 stopgain Validation Negative METMCC_627 3 141304891 141304891 G T RASA2 stopgain Validation Negative METMCC_627 3 182872117 182872117 G A LAMP3 stopgain Validation Negative METMCC_627 4 143350365 143350365 G A INPP4B stopgain Validation Negative METMCC_627 5 T CDC20B stopgain 54423105 54423105 C TTN:NM_003319:ex on29:c.G6759A:p.W 2253X,TTN:NM_133 432:exon29:c.G6759 A:p.W2253X,TTN:N M_133437:exon29:c. G6759A:p.W2253X, TTN:NM_001256850 :exon30:c.G6897A:p. NA W2299X,TTN:NM_0 01267550:exon30:c. G6897A:p.W2299X, TTN:NM_133378:ex on30:c.G6897A:p.W 2299X,TTN:NM_133 379:exon30:c.G6897 A:p.W2299X RBP1:NM_002899:e xon3:c.G515A:p.W1 NA 72X RASA2:NM_006506: exon18:c.G1777T:p. NA E593X ID=COSM1 LAMP3:NM_014398: 308870;OC exon2:c.C112T:p.Q3 CURENCE 8X =1(urinary_ tract) INPP4B:NM_001101 669:exon5:c.C97T:p. Q33X,INPP4B:NM_0 NA 03866:exon6:c.C97T :p.Q33X CDC20B:NM_00114 5734:exon8:c.G969A :p.W323X,CDC20B: NM_001170402:exo NA n8:c.G969A:p.W323 X,CDC20B:NM_1526 23:exon8:c.G969A:p. W323X NA NA 109 0 0% 535 110 17.05% NA NA 37 0 0% 368 47 11.33% NA NA 82 0 0% 80 17 17.53% NA NA 98 0 0% 501 66 11.64% NA NA 118 0 0% 114 20 14.93% NA NA 157 0 0% 536 127 19.16% NA NA 87 0 0% 361 53 12.80% Validation Negative METMCC_627 5 161524845 161524845 C T GABRG2 stopgain GABRG2:NM_00081 6:exon4:c.C529T:p.R 177X,GABRG2:NM_ 198903:exon4:c.C52 NA 9T:p.R177X,GABRG 2:NM_198904:exon4 :c.C529T:p.R177X Validation Negative METMCC_627 6 T PAK1IP1 stopgain PAK1IP1:NM_01790 6:exon6:c.C571T:p. NA Q191X NA NA 130 0 0% 227 27 10.63% stopgain ID=COSM1 NOX3:NM_015718:e 698219;OC xon11:c.G1322A:p. NA CURENCE W441X =1(skin) NA 62 0 0% 245 52 17.51% RSPH10B2:NM_001 099697:exon8:c.G76 5A:p.W255X,RSPH1 NA 0B:NM_173565:exon 8:c.G765A:p.W255X NA NA 15 0 0% 148 20 11.90% NA NA 28 0 0% 113 38 25.17% NA NA 36 0 0% 357 69 16.20% NA NA 60 0 0% 511 123 19.40% NA rs202109 621 16 0 0% 482 20 0.0002 NA 111 0 0% 224 50 18.25% 0 0% 127 39 23.49% 1 0.95% 316 55 14.82% 0 133 33 19.88% Validation Negative METMCC_627 Validation Negative METMCC_627 10704814 10704814 C 6 155732481 155732481 C 7 5997553 29111405 5997553 C T T NOX3 RSPH10B ,RSPH10 stopgain B2 Validation Negative METMCC_627 7 29111405 C T CPVL stopgain Validation Negative METMCC_627 9 101540667 101540667 T A ANKS6 stopgain Validation Negative METMCC_627 10 102748475 102748475 C T C10orf2 stopgain Validation Negative METMCC_627 10 127585221 127585221 C T FANK1 stopgain Validation Negative METMCC_627 11 60309995 60309995 C T MS4A13 stopgain Validation Negative METMCC_627 11 62598654 62598654 G C STX5 stopgain Validation Negative METMCC_627 11 118452132 118452132 C T ARCN1 stopgain Validation Negative METMCC_627 12 A PFDN5 stopgain 53690037 53690037 T CPVL:NM_019029:e xon9:c.G848A:p.W2 83X,CPVL:NM_0313 NA 11:exon9:c.G848A:p. W283X ANKS6:NM_173551: exon7:c.A1408T:p.K NA 470X C10orf2:NM_001163 812:exon1:c.C508T: p.Q170X,C10orf2:N NA M_021830:exon1:c. C508T:p.Q170X FANK1:NM_145235: NA exon1:c.C10T:p.Q4X MS4A13:NM_00127 8320:exon5:c.C229T :p.R77X,MS4A13:N M_001100909:exon6 :c.C286T:p.R96X,MS 4A13:NM_00101241 7:exon7:c.C406T:p.R 136X STX5:NM_00124466 6:exon2:c.C62G:p.S 21X,STX5:NM_0031 64:exon2:c.C62G:p. S21X ARCN1:NM_001655: exon2:c.C175T:p.Q5 9X PFDN5:NM_002624: exon3:c.T185A:p.L6 2X NA NA NA NA 20 NA NA NA 104 NA NA NA 54 0% 3.98% Validation Negative METMCC_627 12 123414571 123414571 G A ABCB9 stopgain Validation Negative METMCC_627 13 48923137 48923137 G A RB1 stopgain Validation Negative METMCC_627 13 76055882 76055882 G A TBC1D4 stopgain Validation Negative METMCC_627 13 101266643 101266643 C T TMTC4 stopgain Validation Negative METMCC_627 14 74186042 74186042 G A ELMSAN1 stopgain Validation Negative METMCC_627 15 50279613 50279613 C T ATP8B4 stopgain Validation Negative METMCC_627 17 35632921 35632921 C T ACACA stopgain Validation Negative METMCC_627 17 79684818 79684818 G A SLC25A1 stopgain 0 Validation Negative METMCC_627 17 79918708 79918708 C T NOTUM stopgain Validation Negative METMCC_627 18 28722084 28722084 G A DSC1 stopgain Validation Negative METMCC_627 19 14952679 14952679 C T OR7A10 stopgain ABCB9:NM_001243 013:exon11:c.C1999 T:p.Q667X,ABCB9:N M_019624:exon11:c. NA C2059T:p.Q687X,AB CB9:NM_019625:ex on12:c.C2188T:p.Q7 30X ID=COSM2 RB1:NM_000321:ex 14151;OC on6:c.G585A:p.W19 CURENCE 5X =1(skin),1( breast) TBC1D4:NM_00128 6658:exon1:c.C22T: p.Q8X,TBC1D4:NM_ 001286659:exon1:c. NA C22T:p.Q8X,TBC1D 4:NM_014832:exon1 :c.C22T:p.Q8X TMTC4:NM_001286 453:exon13:c.G1488 A:p.W496X,TMTC4: NM_001079669:exo NA n15:c.G1821A:p.W6 07X,TMTC4:NM_032 813:exon16:c.G1878 A:p.W626X ELMSAN1:NM_0010 43318:exon12:c.C31 00T:p.Q1034X,ELM NA SAN1:NM_194278:e xon12:c.C3100T:p.Q 1034X ATP8B4:NM_024837 :exon10:c.G723A:p. NA W241X ACACA:NM_198837: exon6:c.G539A:p.W 180X,ACACA:NM_1 98838:exon7:c.G479 A:p.W160X,ACACA: NM_198834:exon8:c NA .G824A:p.W275X,AC ACA:NM_198836:ex on8:c.G713A:p.W23 8X,ACACA:NM_198 839:exon12:c.G713A :p.W238X SLC25A10:NM_0012 70953:exon9:c.G549 NA A:p.W183X NOTUM:NM_178493 :exon1:c.G78A:p.W2 NA 6X DSC1:NM_004948:e xon9:c.C1138T:p.Q3 80X,DSC1:NM_0244 NA 21:exon9:c.C1138T: p.Q380X OR7A10:NM_00100 5190:exon1:c.G11A: NA p.W4X WDR87:NM_001291 088:exon6:c.G4551A :p.W1517X,WDR87: NA NM_031951:exon6:c .G4434A:p.W1478X Validation Negative METMCC_627 19 38379760 38379760 C T WDR87 stopgain Validation Negative METMCC_627 19 40276586 40276586 G A LEUTX stopgain Validation Negative METMCC_627 19 41268857 41268857 C T SNRPA stopgain 34148403 34148403 C A FAM47A stopgain 154227759 154227759 C T F8 stopgain G MYO7A stoploss C G G G C C C G G C C G C T A A A T T T A A T T T T unknown unknown unknown unknown unknown unknown unknown unknown unknown unknown unknown unknown unknown 10 118401672 118401672 G A DLGAP3 RC3H1 DNAH12 DNAH12 MED12L CXCL9 SV2C PRIM2 PRIM2 TAAR9 PEG10 ZAN SH2B2 PNLIPRP 2 LEUTX:NM_0011438 32:exon3:c.G318A:p. NA W106X SNRPA:NM_004596: exon4:c.C478T:p.Q1 NA 60X FAM47A:NM_20340 8:exon1:c.G1993T:p. NA E665X ID=COSM1 466958,CO SM146695 F8:NM_000132:exon 7;OCCUR 2:c.G260A:p.W87X ENCE=2(la rge_intesti ne) MYO7A:NM_001127 179:exon27:c.T3535 NA G:p.X1179G NA NA UNKNOWN NA UNKNOWN NA UNKNOWN NA UNKNOWN NA UNKNOWN NA UNKNOWN NA UNKNOWN NA UNKNOWN NA UNKNOWN NA UNKNOWN NA UNKNOWN NA UNKNOWN NA unknown UNKNOWN Validation Negative METMCC_627 X Validation Negative METMCC_627 X Validation Negative METMCC_627 Validation Validation Validation Validation Validation Validation Validation Validation Validation Validation Validation Validation Validation Negative Negative Negative Negative Negative Negative Negative Negative Negative Negative Negative Negative Negative METMCC_627 METMCC_627 METMCC_627 METMCC_627 METMCC_627 METMCC_627 METMCC_627 METMCC_627 METMCC_627 METMCC_627 METMCC_627 METMCC_627 METMCC_627 Validation Negative METMCC_627 11 76895792 1 1 3 3 3 4 5 6 6 6 7 7 7 35371036 173916628 57447356 57475292 150906190 76924823 75581071 57498973 57512474 132859505 94294607 100346015 101928473 76895792 T 35371036 173916628 57447356 57475292 150906190 76924823 75581071 57498973 57512474 132859505 94294607 100346015 101928473 NA NA NA 19 0 0% 139 25 15.24% NA NA 168 0 0% 122 31 20.26% NA NA 28 0 0% 450 128 22.15% NA NA 119 0 0% 218 81 27.09% NA NA 45 0 0% 201 43 17.62% NA NA 59 0 0% 206 49 19.22% NA NA 70 0 0% 162 40 19.80% NA NA 18 0 0% 374 90 19.40% NA NA 16 0 0% 133 42 NA NA 108 0 0% 157 42 21.11% NA NA 36 0 0% 122 24 16.44% NA NA 46 0 0% 699 191 21.46% NA NA 61 0 0% 385 73 15.94% NA NA 24 0 0% 76 25 24.75% NA NA 41 0 0% 238 106 30.81% NA NA 44 0 0% 119 77 39.29% NA rs122910 62 28 0 0% 266 17 6.01% NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 50 95 113 158 187 80 65 266 215 124 81 13 44 0 0% 0 0% 0 0% 0 0% 0 0% 0 0% 0 0% 2 0.75% 0 0% 0 0% 0 0% 0 0% 0 0% 297 318 177 192 554 143 405 517 697 541 485 215 330 45 156 50 30 82 33 64 44 42 131 191 57 118 13.16% 32.91% 22.03% 13.51% 12.89% 18.75% 13.65% 7.84% 5.68% 19.49% 28.25% 20.96% 26.34% NA NA 129 0 341 0% 24% 95 21.79% Validation Validation Validation Validation Validation Negative Negative Negative Negative Negative METMCC_627 METMCC_627 METMCC_627 METMCC_627 METMCC_627 11 130106888 130106888 C 12 40959448 40959448 G 14 102027879 102027879 G 16 71976800 71976800 C 16 81181071 81181071 A 16071011 T A A T T ZBTB44 MUC19 DIO3 PKD1L3 PKD1L2 nonframeshift substitution Validation Negative METMCC_624 1 Validation Negative METMCC_624 1 235318350 235318351 GG AA RBM34 nonframeshift substitution Validation Negative METMCC_624 2 241660342 241660343 GG AA KIF1A nonframeshift substitution Validation Negative METMCC_624 3 63967896 63967897 CC TT ATXN7 nonframeshift substitution Validation Negative METMCC_624 4 57181746 57181747 CC TT KIAA1211 nonframeshift substitution Validation Negative METMCC_624 6 144844179 144844180 GG AA UTRN nonframeshift substitution Validation Negative METMCC_624 9 nonframeshift substitution 80144071 16071012 GG AA TMEM82 unknown unknown unknown unknown unknown 80144072 CC TT GNA14 Validation Negative METMCC_624 10 129901208 129901209 GG AA MKI67 nonframeshift substitution Validation Negative METMCC_624 12 26572089 26572090 GG AA ITPR2 nonframeshift substitution Validation Negative METMCC_624 17 14095392 14095393 CC TT COX10 nonframeshift substitution Validation Negative METMCC_624 18 42531122 42531123 CC TT SETBP1 nonframeshift substitution Validation Negative METMCC_624 19 54742890 54742891 CC TT LILRA6 nonframeshift substitution Validation Negative METMCC_624 1 981990 981990 C T AGRN nonsynonymo us SNV Validation Negative METMCC_624 1 10386225 10386225 C T KIF1B nonsynonymo us SNV Validation Negative METMCC_624 1 16257690 16257690 C T SPEN nonsynonymo us SNV Validation Negative METMCC_624 1 28476850 28476850 C T PTAFR nonsynonymo us SNV Validation Negative METMCC_624 1 29611288 29611288 C T PTPRU nonsynonymo us SNV Validation Negative METMCC_624 1 32221651 32221651 C T BAI2 nonsynonymo us SNV Validation Negative METMCC_624 1 35332788 35332788 G A DLGAP3 nonsynonymo us SNV Validation Negative METMCC_624 1 100624857 100624857 C G LRRC39 nonsynonymo us SNV UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN TMEM82:NM_00101 3641:exon4:c.693_6 94AA RBM34:NM_001161 533:exon4:c.442_44 3TT,RBM34:NM_015 014:exon4:c.442_44 3TT KIF1A:NM_004321:e xon42:c.4553_4554T T,KIF1A:NM_001244 008:exon45:c.4856_ 4857TT ATXN7:NM_0011281 49:exon3:c.352_353 TT,ATXN7:NM_0011 77387:exon6:c.787_ 788TT,ATXN7:NM_0 00333:exon7:c.787_ 788TT KIAA1211:NM_0207 22:exon8:c.2078_20 79TT UTRN:NM_007124:e xon40:c.5761_5762A A GNA14:NM_004297: exon2:c.222_223AA MKI67:NM_0011459 66:exon12:c.7815_7 816TT,MKI67:NM_0 02417:exon13:c.889 5_8896TT ITPR2:NM_002223:e xon50:c.7002_7003T T COX10:NM_001303: exon6:c.782_783TT SETBP1:NM_01555 9:exon4:c.1817_181 8TT LILRA6:NM_024318: exon8:c.1375_1376A A AGRN:NM_198576:e xon18:c.C3125T:p.P 1042L KIF1B:NM_015074:e xon25:c.C2594T:p.P 865L SPEN:NM_015001:e xon11:c.C4955T:p.S 1652L PTAFR:NM_000952: exon2:c.G683A:p.R2 28H,PTAFR:NM_001 164722:exon2:c.G68 3A:p.R228H,PTAFR: NM_001164721:exo n3:c.G683A:p.R228 H,PTAFR:NM_00116 4723:exon3:c.G683A :p.R228H PTPRU:NM_001195 001:exon14:c.C2225 T:p.S742L,PTPRU:N M_005704:exon14:c. C2225T:p.S742L,PT PRU:NM_133177:ex on14:c.C2225T:p.S7 42L,PTPRU:NM_133 178:exon14:c.C2225 T:p.S742L BAI2:NM_00129433 5:exon4:c.G787A:p. D263N,BAI2:NM_00 1294336:exon4:c.G7 87A:p.D263N DLGAP3:NM_00108 0418:exon11:c.A258 2T:p.Q861L LRRC39:NM_00125 6387:exon4:c.G334C :p.D112H,LRRC39:N M_001256385:exon5 :c.G334C:p.D112H,L RRC39:NM_001256 386:exon5:c.G334C: p.D112H,LRRC39:N M_144620:exon5:c. G334C:p.D112H NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 135 135 18 97 29 0 0% 1 0.74% 0 0% 0 0% 0 0% 739 494 642 265 181 138 71 146 68 51 NA NA NA 11 0 0% 50 25 33.33% NA NA NA 27 0 0% 41 32 43.84% NA NA NA 11 0 0% 39 36 NA NA NA 11 0 0% 25 27 51.92% NA NA NA 14 0 0% 81 49 37.69% NA NA NA 17 0 0% 52 17 24.64% NA NA NA 11 0 0% 36 33 47.83% NA NA NA 21 0 0% 58 10 14.71% NA NA NA 10 0 0% 38 21 35.59% NA NA NA 16 0 0% 13 56 81.16% NA NA NA 13 0 0% 70 15 17.65% NA NA NA 17 0 0% 88 22 NA NA NA 12 0 0% 93 72 43.64% NA NA NA 10 0 0% 39 27 40.91% NA NA NA 15 0 0% 54 42 43.75% ID=COSM9 07955;OC CURENCE NA =1(endome trium) rs147497 462 11 0 0% 54 36 NA NA NA 11 0 0% 45 31 40.79% NA NA NA 12 0 0% 91 57 38.51% NA NA NA 15 0 0% 50 43 46.24% NA NA NA 30 0 0% 9 21 15.74% 12.57% 18.53% 20.42% 21.98% 48% 20% 40% 70% Validation Negative METMCC_624 1 103480147 103480147 G A COL11A1 nonsynonymo us SNV Validation Negative METMCC_624 1 150598153 150598153 C G ENSA nonsynonymo us SNV Validation Negative METMCC_624 1 151789217 151789217 G A RORC nonsynonymo us SNV Validation Negative METMCC_624 1 152186837 152186837 C T HRNR nonsynonymo us SNV Validation Negative METMCC_624 1 152277464 152277464 C G FLG nonsynonymo us SNV Validation Negative METMCC_624 1 152278970 152278970 G T FLG nonsynonymo us SNV Validation Negative METMCC_624 1 152538476 152538476 G A LCE3E nonsynonymo us SNV Validation Negative METMCC_624 1 155823467 155823467 T A GON4L nonsynonymo us SNV Validation Negative METMCC_624 1 156810688 156810688 G C INSRR nonsynonymo us SNV Validation Negative METMCC_624 1 157557832 157557832 C T FCRL4 nonsynonymo us SNV Validation Negative METMCC_624 1 161046263 161046263 G A PVRL4 nonsynonymo us SNV Validation Negative METMCC_624 1 167973927 167973927 C T DCAF6 Validation Negative METMCC_624 1 169356242 169356242 G A BLZF1 Validation Negative METMCC_624 1 197024946 197024946 C T F13B Validation Negative METMCC_624 1 201193835 201193835 T A IGFN1 Validation Negative METMCC_624 1 207940984 207940984 T A CD46 Validation Negative METMCC_624 1 214803994 214803994 G A CENPF Validation Negative METMCC_624 1 222696103 222696103 G A HHIPL2 Validation Negative METMCC_624 1 225533726 225533726 G A DNAH14 COL11A1:NM_0806 30:exon11:c.C1144T :p.R382C,COL11A1: NM_001190709:exo n12:c.C1375T:p.R45 9C,COL11A1:NM_00 1854:exon13:c.C149 2T:p.R498C,COL11 A1:NM_080629:exon 13:c.C1528T:p.R510 C ENSA:NM_004436:e xon3:c.G315C:p.Q10 5H,ENSA:NM_20704 4:exon3:c.G315C:p. Q105H,ENSA:NM_2 07046:exon3:c.G303 C:p.Q101H,ENSA:N M_207047:exon3:c. G303C:p.Q101H,EN SA:NM_207042:exon 4:c.G363C:p.Q121H, ENSA:NM_207043:e xon4:c.G363C:p.Q12 1H,ENSA:NM_20704 5:exon4:c.G351C:p. Q117H RORC:NM_0010015 23:exon3:c.C158T:p. P53L,RORC:NM_00 5060:exon4:c.C221T :p.P74L HRNR:NM_0010099 31:exon3:c.G7268A: p.R2423Q FLG:NM_002016:ex on3:c.G9898C:p.E33 00Q FLG:NM_002016:ex on3:c.C8392A:p.Q27 98K LCE3E:NM_178435: exon2:c.C209T:p.S7 0F GON4L:NM_001282 856:exon2:c.A105T: p.E35D,GON4L:NM_ 001282858:exon2:c. A105T:p.E35D,GON 4L:NM_001282860:e xon2:c.A105T:p.E35 D,GON4L:NM_0012 82861:exon2:c.A105 T:p.E35D,GON4L:N M_032292:exon2:c.A 105T:p.E35D INSRR:NM_014215: exon22:c.C3871G:p. Q1291E FCRL4:NM_031282: exon4:c.G385A:p.E1 29K PVRL4:NM_030916: exon4:c.C733T:p.L2 45F ID=COSM2 68491,CO SM168817 6;OCCUR NA ENCE=1(la rge_intesti ne),1(skin) NA 17 0 0% 24 11 31.43% NA NA NA 12 0 0% 23 14 37.84% NA NA NA 15 0 0% 48 25 34.25% NA NA NA 15 0 0% 106 NA NA NA 12 0 0% 27 14 34.15% NA NA NA 17 0 0% 41 15 26.79% rs141015 857 10 0 0% 68 38 35.85% NA 0.0002 10 8.62% NA NA NA 16 0 0% 49 25 33.78% NA NA NA 10 0 0% 69 37 34.91% NA NA NA 16 0 0% 20 18 47.37% NA NA NA 15 0 0% 38 20 34.48% DCAF6:NM_001198 957:exon9:c.C1181T :p.S394L,DCAF6:NM _001017977:exon10: nonsynonymo c.C1274T:p.S425L,D NA us SNV CAF6:NM_00119895 6:exon10:c.C1274T: p.S425L,DCAF6:NM _018442:exon10:c.C 1274T:p.S425L NA NA 18 0 0% 13 10 43.48% NA NA NA 16 0 0% 27 18 NA NA NA 24 0 0% 13 11 45.83% NA NA NA 13 0 0% 58 31 34.83% NA NA NA 17 0 0% 31 24 43.64% NA NA NA 23 0 0% 38 17 30.91% NA NA NA 17 0 0% 53 40 43.01% ID=COSM2 DNAH14:NM_00137 nonsynonymo 29904;OC 3:exon68:c.G10462A NA us SNV CURENCE :p.E3488K =1(NS) NA 20 0 0% 27 22 44.90% BLZF1:NM_003666: nonsynonymo exon7:c.G1025A:p.R us SNV 342K F13B:NM_001994:ex nonsynonymo on8:c.G1253A:p.G41 us SNV 8E IGFN1:NM_0011645 nonsynonymo 86:exon21:c.T10319 us SNV A:p.L3440Q CD46:NM_002389:e xon7:c.T889A:p.L29 nonsynonymo 7M,CD46:NM_17235 us SNV 9:exon7:c.T889A:p.L 297M CENPF:NM_016343: nonsynonymo exon9:c.G1312A:p.E us SNV 438K HHIPL2:NM_024746: nonsynonymo exon9:c.C2015T:p.P us SNV 672L 40% Validation Negative METMCC_624 1 225688714 225688714 C T ENAH Validation Negative METMCC_624 1 231678342 231678342 C G TSNAX Validation Negative METMCC_624 1 241714304 241714304 C T KMO Validation Negative METMCC_624 1 248814038 248814038 G A OR2T27 Validation Negative METMCC_624 2 18112651 18112651 G C Validation Negative METMCC_624 2 21230811 21230811 C T Validation Negative METMCC_624 2 29237270 29237270 C T Validation Negative METMCC_624 2 29295339 29295339 C T Validation Negative METMCC_624 2 68872969 68872969 G A 2 75107469 75107469 G T HK2 Validation Negative METMCC_624 2 98413868 98413868 G A TMEM131 Validation Negative METMCC_624 2 99013032 99013032 G C CNGA3 Validation Negative METMCC_624 2 116572535 116572535 G A DPP10 Validation Negative METMCC_624 2 118704388 118704388 T A CCDC93 Validation Negative METMCC_624 2 121744184 121744184 G A GLI2 2 131521983 131521983 G A NA NA 22 0 0% 45 17 27.42% NA NA 28 0 0% 47 24 33.80% NA NA 18 0 0% 23 16 41.03% NA NA NA 11 0 0% 49 10 16.95% NA NA NA 10 0 0% 50 39 43.82% NA NA NA 13 0 0% 32 23 41.82% NA NA NA 16 0 0% 56 39 41.05% NA NA NA 13 0 0% 84 53 38.69% NA NA NA 15 0 0% 79 37 31.90% ID=COSM1 HK2:NM_000189:ex nonsynonymo 730045;OC on10:c.G1343T:p.G4 NA us SNV CURENCE 48V =1(liver) NA 18 0 0% 47 35 42.68% nonsynonymo KMO:NM_003679:ex NA us SNV on4:c.C272T:p.S91L OR2T27:NM_001001 nonsynonymo 824:exon1:c.C148T: us SNV p.H50Y KCNS3:NM_001282 428:exon3:c.G376C: nonsynonymo KCNS3 p.E126Q,KCNS3:NM us SNV _002252:exon3:c.G3 76C:p.E126Q APOB:NM_000384:e nonsynonymo APOB xon26:c.G8929A:p.E us SNV 2977K FAM179A:NM_1992 nonsynonymo FAM179A 80:exon8:c.C887T:p. us SNV P296L C2orf71:NM_001029 nonsynonymo C2orf71 883:exon1:c.G1789A us SNV :p.E597K PROKR1:NM_13896 nonsynonymo PROKR1 4:exon1:c.G16A:p.G us SNV 6R Validation Negative METMCC_624 Validation Negative METMCC_624 ENAH:NM_018212:e xon12:c.G1597A:p.D nonsynonymo 533N,ENAH:NM_001 NA us SNV 008493:exon13:c.G1 660A:p.D554N TSNAX:NM_005999: nonsynonymo exon4:c.C352G:p.R1 NA us SNV 18G AMER3 TMEM131:NM_0153 nonsynonymo 48:exon26:c.C2830T us SNV :p.P944S CNGA3:NM_001079 878:exon7:c.G1345C nonsynonymo :p.E449Q,CNGA3:N us SNV M_001298:exon8:c. G1399C:p.E467Q DPP10:NM_0010043 60:exon20:c.G1846A :p.E616K,DPP10:NM _001178034:exon20: c.G1879A:p.E627K, DPP10:NM_0011780 nonsynonymo 37:exon20:c.G1855A us SNV :p.E619K,DPP10:NM _020868:exon20:c.G 1867A:p.E623K,DPP 10:NM_001178036:e xon21:c.G1717A:p.E 573K CCDC93:NM_01904 nonsynonymo 4:exon16:c.A1295T: us SNV p.K432M GLI2:NM_005270:ex nonsynonymo on12:c.G2287A:p.G7 us SNV 63R NA NA NA 19 0 0% 26 19 42.22% NA NA NA 16 0 0% 46 38 45.24% NA NA NA 22 0 0% 35 23 39.66% NA NA NA 12 0 0% 29 11 27.50% NA NA NA 11 0 0% 74 44 37.29% AMER3:NM_001105 193:exon2:c.G2338A :p.E780K,AMER3:N M_001105194:exon2 nonsynonymo :c.G2338A:p.E780K, NA us SNV AMER3:NM_001105 195:exon2:c.G2338A :p.E780K,AMER3:N M_152698:exon2:c. G2338A:p.E780K NA NA 12 0 0% 79 57 41.91% NA NA NA 22 0 0% 26 16 38.10% NA NA NA 16 0 0% 47 35 42.68% NA NA NA 10 0 0% 36 36 NA NA NA 17 0 0% 29 15 34.09% NA NA NA 25 0 0% 18 10 35.71% Validation Negative METMCC_624 2 155566184 155566184 G A KCNJ3 nonsynonymo us SNV Validation Negative METMCC_624 2 160901342 160901342 G A PLA2R1 nonsynonymo us SNV Validation Negative METMCC_624 2 166179931 166179931 G A SCN2A nonsynonymo us SNV Validation Negative METMCC_624 2 185801010 185801010 T C ZNF804A nonsynonymo us SNV Validation Negative METMCC_624 2 186655236 186655236 C T FSIP2 nonsynonymo us SNV KCNJ3:NM_0012605 09:exon2:c.G772A:p. G258R,KCNJ3:NM_ 002239:exon2:c.G77 2A:p.G258R PLA2R1:NM_001007 267:exon2:c.C436T: p.H146Y,PLA2R1:N M_001195641:exon2 :c.C436T:p.H146Y,P LA2R1:NM_007366: exon2:c.C436T:p.H1 46Y SCN2A:NM_001040 143:exon11:c.G1937 A:p.S646N,SCN2A:N M_001040142:exon1 2:c.G1937A:p.S646N ,SCN2A:NM_021007 :exon12:c.G1937A:p. S646N ZNF804A:NM_19425 0:exon4:c.T887C:p.I 296T FSIP2:NM_173651:e xon16:c.C3640T:p.P 1214S 50% Validation Negative METMCC_624 2 191224940 191224940 G C INPP1 nonsynonymo us SNV Validation Negative METMCC_624 2 196759768 196759768 C T DNAH7 nonsynonymo us SNV Validation Negative METMCC_624 2 197298098 197298098 G A HECW2 nonsynonymo us SNV Validation Negative METMCC_624 2 208424959 208424959 C T CREB1 nonsynonymo us SNV BCS1L Validation Negative METMCC_624 2 219525907 219525907 G T Validation Negative METMCC_624 2 219689000 219689000 G A Validation Negative METMCC_624 2 220046809 220046809 G C Validation Negative METMCC_624 2 220354402 220354402 C T Validation Negative METMCC_624 3 27335136 27335136 G A Validation Negative METMCC_624 3 49095230 49095230 C T Validation Negative METMCC_624 3 52854665 52854665 C T Validation Negative METMCC_624 3 65377024 65377024 C T Validation Negative METMCC_624 3 75786379 75786379 T C Validation Negative METMCC_624 3 75786385 75786385 C G Validation Negative METMCC_624 3 75786417 75786417 T C Validation Negative METMCC_624 3 98002450 98002450 G A Validation Negative METMCC_624 3 100963535 100963535 G A Validation Negative METMCC_624 3 111898485 111898485 G A Validation Negative METMCC_624 3 118865454 118865454 G A Validation Negative METMCC_624 3 122290589 122290589 G C Validation Negative METMCC_624 3 128982792 128982792 C T INPP1:NM_002194:e xon2:c.G112C:p.E38 Q,INPP1:NM_00112 8928:exon3:c.G112C :p.E38Q DNAH7:NM_018897: exon30:c.G4828A:p. E1610K HECW2:NM_020760 :exon2:c.C50T:p.P17 L CREB1:NM_004379: exon3:c.C124T:p.P4 2S,CREB1:NM_1344 42:exon3:c.C124T:p. P42S NA NA NA 21 0 0% 33 15 31.25% NA NA NA 21 0 0% 28 27 49.09% NA NA NA 15 0 0% 55 23 29.49% NA NA NA 17 0 0% 39 16 29.09% BCS1L:NM_0010798 66:exon2:c.G197T:p. W66L,BCS1L:NM_0 01257344:exon2:c.G 197T:p.W66L,BCS1 nonsynonymo L:NM_001257342:ex NA us SNV on3:c.G197T:p.W66 L,BCS1L:NM_00125 7343:exon3:c.G197T :p.W66L,BCS1L:NM _004328:exon3:c.G1 97T:p.W66L NA NA 20 0 0% 85 53 38.41% NA NA NA 16 0 0% 53 40 43.01% NA NA NA 14 0 0% 56 38 40.43% NA NA NA 12 0 0% 75 47 38.52% NA NA NA 25 0 0% 12 19 61.29% NA NA NA 11 0 0% 15 42 73.68% NA NA NA 12 0 0% 13 39 NA NA NA 13 0 0% 22 39 63.93% NA NA rs143986 834 15 0 0% 30 15 33.33% NA NA rs141017 925 19 0 0% 32 15 31.91% NA NA rs147032 196 21 0 0% 28 10 26.32% NA NA NA 26 0 0% 36 15 29.41% NA NA NA 19 0 0% 56 24 NA NA NA 24 0 0% 29 12 29.27% NA NA NA 17 0 0% 47 85 64.39% NA NA NA 28 0 0% 41 11 21.15% NA NA NA 11 0 0% 70 33 32.04% PRKAG3:NM_01743 nonsynonymo PRKAG3 1:exon12:c.C1298T: us SNV p.S433F FAM134A:NM_0242 nonsynonymo FAM134A 93:exon9:c.G1090C: us SNV p.E364Q SPEG:NM_005876:e nonsynonymo SPEG xon36:c.C8662T:p.P us SNV 2888S NEK10:NM_199347: nonsynonymo NEK10 exon17:c.C1316T:p. us SNV A439V QRICH1:NM_198880 :exon3:c.G403A:p.V nonsynonymo QRICH1 135I,QRICH1:NM_01 us SNV 7730:exon4:c.G403A :p.V135I ITIH4:NM_00116644 9:exon13:c.G1816A: nonsynonymo ITIH4 p.E606K,ITIH4:NM_0 us SNV 02218:exon13:c.G18 16A:p.E606K MAGI1:NM_0010330 57:exon14:c.G2209A :p.E737K,MAGI1:NM nonsynonymo _004742:exon14:c.G MAGI1 us SNV 2209A:p.E737K,MA GI1:NM_015520:exo n14:c.G2209A:p.E73 7K ZNF717:NM_001128 223:exon5:c.A2395G :p.T799A,ZNF717:N nonsynonymo M_001290208:exon5 ZNF717 us SNV :c.A2395G:p.T799A, ZNF717:NM_001290 209:exon5:c.A2245G :p.T749A ZNF717:NM_001128 223:exon5:c.G2389C :p.D797H,ZNF717:N nonsynonymo M_001290208:exon5 ZNF717 us SNV :c.G2389C:p.D797H, ZNF717:NM_001290 209:exon5:c.G2239C :p.D747H ZNF717:NM_001128 223:exon5:c.A2357G :p.Y786C,ZNF717:N nonsynonymo M_001290208:exon5 ZNF717 us SNV :c.A2357G:p.Y786C, ZNF717:NM_001290 209:exon5:c.A2207G :p.Y736C OR5H2:NM_001005 nonsynonymo OR5H2 482:exon1:c.G719A: us SNV p.R240K IMPG2:NM_016247: nonsynonymo IMPG2 exon13:c.C1640T:p. us SNV S547F SLC9C1:NM_183061 nonsynonymo SLC9C1 :exon23:c.C2812T:p. us SNV P938S C3orf30:NM_152539 nonsynonymo C3orf30 :exon1:c.G418A:p.E us SNV 140K DTX3L:NM_138287: nonsynonymo DTX3L exon5:c.G2218C:p.E us SNV 740Q COPG1:NM_016128: nonsynonymo COPG1 exon13:c.C1174T:p. us SNV R392C 75% 30% Validation Negative METMCC_624 Validation Negative METMCC_624 Validation Negative METMCC_624 Validation Negative METMCC_624 3 130289748 130289748 G 3 134201737 134201737 C 3 151056608 151056608 G 3 154859868 154859868 C A COL6A6 COL6A6:NM_00110 nonsynonymo 2608:exon6:c.G2488 NA us SNV A:p.D830N NA NA 18 0 0% 86 29 25.22% T ANAPC13:NM_0012 42374:exon2:c.G10A :p.E4K,ANAPC13:N nonsynonymo ANAPC13 M_001242375:exon2 NA us SNV :c.G10A:p.E4K,ANA PC13:NM_015391:e xon2:c.G10A:p.E4K NA NA 13 0 0% 39 20 33.90% A P2RY12 P2RY12:NM_176876 :exon2:c.C26T:p.S9F nonsynonymo ,P2RY12:NM_02278 NA us SNV 8:exon3:c.C26T:p.S9 F NA NA 19 0 0% 25 32 56.14% MME MME:NM_000902:ex on11:c.C1046T:p.P3 49L,MME:NM_00728 7:exon11:c.C1046T: nonsynonymo p.P349L,MME:NM_0 NA us SNV 07288:exon11:c.C10 46T:p.P349L,MME:N M_007289:exon11:c. C1046T:p.P349L NA NA 18 0 0% 46 16 25.81% NA NA 15 0 0% 35 33 48.53% NA NA 10 0 0% 51 56 52.34% NA NA 10 0 0% 108 NA NA 26 0 0% 36 15 29.41% rs617599 02 15 0 0% 3 11 78.57% T Validation Negative METMCC_624 3 173998555 173998555 C T NLGN1 Validation Negative METMCC_624 3 186395031 186395031 C T HRG Validation Negative METMCC_624 3 194080200 194080200 C G LRRC15 NLGN1:NM_014932: nonsynonymo exon7:c.C1934T:p.P NA us SNV 645L HRG:NM_000412:ex nonsynonymo on7:c.C937T:p.P313 NA us SNV S LRRC15:NM_13083 0:exon2:c.G1573C:p. nonsynonymo D525H,LRRC15:NM NA us SNV _001135057:exon3:c .G1591C:p.D531H Validation Negative METMCC_624 3 196443782 196443782 G A PIGX nonsynonymo us SNV Validation Negative METMCC_624 4 3344760 3344760 C T RGS12 nonsynonymo us SNV Validation Negative METMCC_624 4 39439494 39439494 C T KLB nonsynonymo us SNV Validation Negative METMCC_624 4 40832494 40832494 C T APBB2 nonsynonymo us SNV Validation Negative METMCC_624 Validation Negative METMCC_624 Validation Negative METMCC_624 4 4 4 41686484 57216056 70361080 41686484 G 57216056 C 70361080 G C T A PIGX:NM_00116630 4:exon2:c.G166A:p. G56S,PIGX:NM_017 861:exon2:c.G166A: p.G56S RGS12:NM_002926: exon3:c.C1978T:p.R 660C,RGS12:NM_19 8229:exon3:c.C1978 T:p.R660C KLB:NM_175737:exo n3:c.C1484T:p.S495 L APBB2:NM_173075: exon12:c.G1564A:p. E522K,APBB2:NM_0 01166050:exon13:c. G1627A:p.E543K,AP BB2:NM_004307:exo n13:c.G1630A:p.E54 4K NA NA 0.000998 42 28% NA NA NA 20 0 0% 31 27 46.55% NA NA NA 18 0 0% 32 23 41.82% LIMCH1 LIMCH1:NM_001112 720:exon16:c.G2263 C:p.D755H,LIMCH1: NM_001112719:exo n17:c.G2299C:p.D76 7H,LIMCH1:NM_001 112717:exon22:c.G2 764C:p.D922H,LIMC nonsynonymo H1:NM_001112718:e NA us SNV xon22:c.G2761C:p.D 921H,LIMCH1:NM_0 01289122:exon22:c. G2800C:p.D934H,LI MCH1:NM_0012891 24:exon22:c.G2323C :p.D775H,LIMCH1:N M_014988:exon22:c. G2764C:p.D922H NA NA 17 0 0% 33 14 29.79% AASDH AASDH:NM_001286 670:exon8:c.G406A: p.E136K,AASDH:NM _001286668:exon10: c.G1561A:p.E521K, AASDH:NM_001286 669:exon10:c.G1402 nonsynonymo A:p.E468K,AASDH: NA us SNV NM_001286671:exo n11:c.G1861A:p.E62 1K,AASDH:NM_001 286672:exon11:c.G1 861A:p.E621K,AASD H:NM_181806:exon1 1:c.G1861A:p.E621K NA NA 15 0 0% 40 18 31.03% UGT2B4 UGT2B4:NM_00129 7615:exon1:c.C500T :p.P167L,UGT2B4:N nonsynonymo M_021139:exon1:c. NA us SNV C500T:p.P167L,UGT 2B4:NM_001297616: exon2:c.C92T:p.P31 L NA NA 15 0 0% 28 17 37.78% Validation Negative METMCC_624 4 80246664 80246664 G C NAA11 Validation Negative METMCC_624 4 88029315 88029315 C G AFF1 Validation Negative METMCC_624 4 109674077 109674077 C G ETNPPL Validation Negative METMCC_624 4 114278928 114278928 G A ANK2 Validation Negative METMCC_624 4 144141575 144141575 G C USP38 Validation Negative METMCC_624 4 153791908 153791908 C T ARFIP1 Validation Negative METMCC_624 4 170618602 170618602 C T CLCN3 Validation Negative METMCC_624 4 187540188 187540188 C T FAT1 Validation Negative METMCC_624 5 T BRD9 C Validation Negative METMCC_624 5 891862 31508791 891862 C 31508791 G Validation Negative METMCC_624 5 33614442 33614442 A C Validation Negative METMCC_624 5 34042998 34042998 G A Validation Negative METMCC_624 5 36955601 36955601 C T NAA11:NM_032693: nonsynonymo exon1:c.C368G:p.S1 us SNV 23C AFF1:NM_005935:ex on10:c.C1360G:p.P4 nonsynonymo 54A,AFF1:NM_0011 us SNV 66693:exon11:c.C13 81G:p.P461A ETNPPL:NM_00114 6627:exon5:c.G418C :p.E140Q,ETNPPL:N nonsynonymo M_001146590:exon6 us SNV :c.G574C:p.E192Q,E TNPPL:NM_031279: exon6:c.G592C:p.E1 98Q ANK2:NM_001148:e nonsynonymo xon38:c.G9154A:p.D us SNV 3052N USP38:NM_032557: exon10:c.G3095C:p. nonsynonymo G1032A,USP38:NM_ us SNV 001290326:exon11:c .G1730C:p.G577A ARFIP1:NM_001025 595:exon4:c.C206T: p.S69F,ARFIP1:NM_ nonsynonymo 001287431:exon4:c. us SNV C206T:p.S69F,ARFI P1:NM_001287432:e xon5:c.C206T:p.S69 F CLCN3:NM_001243 372:exon8:c.C1199T :p.P400L,CLCN3:NM _001243374:exon8:c nonsynonymo .C1199T:p.P400L,CL us SNV CN3:NM_001829:ex on9:c.C1280T:p.P42 7L,CLCN3:NM_1738 72:exon9:c.C1280T: p.P427L FAT1:NM_005245:ex nonsynonymo on10:c.G7552A:p.D2 us SNV 518N BRD9:NM_00100987 7:exon2:c.G6A:p.M2I nonsynonymo ,BRD9:NM_023924:e us SNV xon2:c.G160A:p.D54 N NA NA NA 20 0 0% 59 36 37.89% NA NA NA 17 0 0% 36 12 NA NA NA 26 0 0% 32 29 47.54% NA NA NA 22 0 0% 38 33 46.48% NA NA NA 26 0 0% 30 15 33.33% NA NA NA 17 0 0% 28 17 37.78% NA NA NA 19 0 0% 37 18 32.73% NA NA NA 22 0 0% 44 30 40.54% NA NA NA 11 0 0% 129 156 54.74% DROSHA:NM_00110 0412:exon9:c.C1413 nonsynonymo DROSHA G:p.I471M,DROSHA: NA us SNV NM_013235:exon9:c .C1524G:p.I508M NA NA 13 0 0% 42 53 55.79% NA NA 24 0 0% 65 23 26.14% NA NA 14 0 0% 108 54 33.33% NA NA 18 0 0% 133 34 20.36% NA NA NA 20 0 0% 26 34 56.67% NA NA NA 15 0 0% 56 67 54.47% rs141979 044 24 0 0% 98 49 33.33% ADAMTS12:NM_030 ADAMTS nonsynonymo 955:exon16:c.T2428 NA 12 us SNV G:p.Y810D C1QTNF3:NM_1814 nonsynonymo C1QTNF3 35:exon1:c.C233T:p. NA us SNV S78F NIPBL NIPBL:NM_015384:e nonsynonymo xon3:c.C92T:p.P31L, NA us SNV NIPBL:NM_133433:e xon3:c.C92T:p.P31L Validation Negative METMCC_624 5 37000657 37000657 C T NIPBL nonsynonymo us SNV Validation Negative METMCC_624 5 38435270 38435270 A T EGFLAM nonsynonymo us SNV Validation Negative METMCC_624 5 38438393 38438393 G A EGFLAM nonsynonymo us SNV Validation Negative METMCC_624 5 52221138 52221138 G A ITGA1 nonsynonymo us SNV Validation Negative METMCC_624 5 55422887 55422887 C T ANKRD55 nonsynonymo us SNV Validation Negative METMCC_624 5 82817955 82817955 G A VCAN nonsynonymo us SNV Validation Negative METMCC_624 5 121362659 121362659 G C SRFBP1 nonsynonymo us SNV NIPBL:NM_015384:e xon12:c.C3487T:p.P 1163S,NIPBL:NM_1 33433:exon12:c.C34 87T:p.P1163S EGFLAM:NM_18279 8:exon11:c.A1496T: p.D499V,EGFLAM:N M_001205301:exon1 6:c.A2198T:p.D733V ,EGFLAM:NM_1524 03:exon16:c.A2198T :p.D733V EGFLAM:NM_18279 8:exon12:c.G1598A: p.R533Q,EGFLAM:N M_001205301:exon1 7:c.G2300A:p.R767 Q,EGFLAM:NM_152 403:exon17:c.G2300 A:p.R767Q ITGA1:NM_181501:e xon19:c.G2434A:p.E 812K ANKRD55:NM_0246 69:exon8:c.G659A:p. G220E VCAN:NM_0011640 98:exon7:c.G3830A: p.R1277K,VCAN:NM _004385:exon7:c.G3 830A:p.R1277K SRFBP1:NM_15254 6:exon8:c.G1128C:p. Q376H NA 0.000599 25% NA NA NA 26 0 0% 56 36 39.13% NA NA NA 18 0 0% 116 47 28.83% NA NA NA 11 0 0% 7 41 85.42% NA NA NA 21 0 0% 8 28 77.78% Validation Negative METMCC_624 5 176959529 176959529 C G FAM193B Validation Negative METMCC_624 5 179992955 179992955 A T CNOT6 Validation Negative METMCC_624 6 6266802 6266802 G A F13A1 Validation Negative METMCC_624 6 15501407 15501407 G A JARID2 Validation Negative METMCC_624 6 27925218 27925218 C T OR2B6 Validation Negative METMCC_624 6 36177996 36177996 C A BRPF3 Validation Negative METMCC_624 6 38877330 38877330 C T DNAH8 Validation Negative METMCC_624 6 39284002 39284002 G A KCNK16 Validation Negative METMCC_624 6 41751876 41751876 C A PRICKLE 4 Validation Negative METMCC_624 6 47846449 47846449 C T PTCHD4 Validation Negative METMCC_624 6 52303360 52303360 C T EFHC1 Validation Negative METMCC_624 6 64431679 64431679 T G EYS Validation Negative METMCC_624 6 72952083 72952083 T A RIMS1 Validation Negative METMCC_624 6 88125415 88125415 G A C6orf165 Validation Negative METMCC_624 6 101215143 101215143 T A ASCC3 Validation Negative METMCC_624 6 102124560 102124560 C T GRIK2 Validation Negative METMCC_624 6 109466495 109466495 C T CEP57L1 Validation Negative METMCC_624 6 109819159 109819159 C T AK9 Validation Negative METMCC_624 6 135769571 135769571 G A AHI1 Validation Negative METMCC_624 6 147067062 147067062 G A ADGB Validation Negative METMCC_624 6 160662586 160662586 C T SLC22A2 Validation Negative METMCC_624 6 161135871 161135871 C T PLG FAM193B:NM_0011 nonsynonymo 90946:exon5:c.G119 us SNV 0C:p.R397P CNOT6:NM_015455: nonsynonymo exon7:c.A695T:p.N2 us SNV 32I F13A1:NM_000129:e nonsynonymo xon4:c.C560T:p.P18 us SNV 7L JARID2:NM_001267 040:exon8:c.G1699A nonsynonymo :p.G567S,JARID2:N us SNV M_004973:exon8:c. G2215A:p.G739S OR2B6:NM_012367: nonsynonymo exon1:c.C200T:p.S6 us SNV 7L BRPF3:NM_015695: nonsynonymo exon6:c.C1870A:p.P us SNV 624T DNAH8:NM_001206 nonsynonymo 927:exon65:c.C9550 us SNV T:p.P3184S KCNK16:NM_00113 nonsynonymo 5106:exon5:c.C878T us SNV :p.S293F PRICKLE4:NM_0133 nonsynonymo 97:exon4:c.C140A:p. us SNV A47E PTCHD4:NM_00101 nonsynonymo 3732:exon3:c.G2131 us SNV A:p.D711N EFHC1:NM_018100: exon3:c.C544T:p.R1 nonsynonymo 82C,EFHC1:NM_001 us SNV 172420:exon4:c.C48 7T:p.R163C EYS:NM_001142800 :exon43:c.A8248C:p. nonsynonymo I2750L,EYS:NM_001 us SNV 292009:exon44:c.A8 311C:p.I2771L RIMS1:NM_0011684 07:exon5:c.T446A:p. I149N,RIMS1:NM_00 1168408:exon5:c.T4 46A:p.I149N,RIMS1: nonsynonymo NM_001168409:exo us SNV n5:c.T203A:p.I68N,R IMS1:NM_00116841 0:exon5:c.T401A:p.I 134N,RIMS1:NM_01 4989:exon10:c.T202 4A:p.I675N C6orf165:NM_00103 nonsynonymo 1743:exon5:c.G295A us SNV :p.E99K ASCC3:NM_001284 271:exon9:c.A1474T nonsynonymo :p.N492Y,ASCC3:N us SNV M_006828:exon9:c.A 1474T:p.N492Y GRIK2:NM_0011662 47:exon4:c.C604T:p. R202C,GRIK2:NM_0 nonsynonymo 21956:exon4:c.C604 us SNV T:p.R202C,GRIK2:N M_175768:exon4:c. C604T:p.R202C CEP57L1:NM_00127 1852:exon2:c.C71T: p.S24L,CEP57L1:N M_001271853:exon2 nonsynonymo :c.C71T:p.S24L,CEP us SNV 57L1:NM_173830:ex on2:c.C71T:p.S24L, CEP57L1:NM_00108 3535:exon4:c.C71T: p.S24L AK9:NM_001145128 nonsynonymo :exon37:c.G5056A:p. us SNV E1686K AHI1:NM_00113483 0:exon10:c.C1483T: p.R495C,AHI1:NM_0 01134832:exon11:c. nonsynonymo C1483T:p.R495C,AH us SNV I1:NM_017651:exon 11:c.C1483T:p.R495 C,AHI1:NM_0011348 31:exon12:c.C1483T :p.R495C ADGB:NM_024694:e nonsynonymo xon26:c.G3182A:p.G us SNV 1061E SLC22A2:NM_00305 nonsynonymo 8:exon9:c.G1421A:p. us SNV C474Y PLG:NM_000301:ex nonsynonymo on6:c.C593T:p.S198 us SNV F NA NA NA 11 0 0% 19 85 81.73% NA NA NA 14 0 0% 17 43 71.67% NA NA NA 20 0 0% 38 44 53.66% NA NA NA 14 0 0% 156 53 25.36% NA NA NA 28 0 0% 49 23 31.94% NA NA NA 10 0 0% 81 29 26.36% NA NA NA 17 0 0% 16 30 65.22% NA NA NA 11 0 0% 60 21 25.93% NA NA NA 13 0 0% 78 71 47.65% NA NA NA 16 0 0% 65 16 19.75% NA NA rs200191 497 24 0 0% 20 39 66.10% NA NA NA 21 0 0% 20 24 54.55% NA NA NA 23 0 0% 15 11 42.31% NA NA rs377549 577 25 0 0% 40 19 32.20% NA NA NA 17 0 0% 28 26 48.15% ID=COSM2 24928,CO SM224929; OCCUREN NA CE=1(NS), 1(skin),1(li ver) NA 20 0 0% 31 15 32.61% NA NA NA 19 0 0% 32 10 23.81% NA NA NA 12 0 0% 46 20 30.30% NA NA NA 23 0 0% 42 13 23.64% NA NA NA 13 0 0% 59 15 20.27% NA NA NA 19 0 0% 25 30 54.55% NA NA NA 16 0 0% 23 12 34.29% Validation Negative METMCC_624 7 11082404 11082404 C T Validation Negative METMCC_624 7 18066960 18066960 G A Validation Negative METMCC_624 7 21934505 21934505 G A Validation Negative METMCC_624 7 34006106 34006106 G A Validation Negative METMCC_624 7 56088842 56088842 C T Validation Negative METMCC_624 7 92731060 92731060 C G Validation Negative METMCC_624 7 100551773 100551773 C A Validation Negative METMCC_624 7 100552412 100552412 T C Validation Negative METMCC_624 7 106791411 106791411 A T Validation Negative METMCC_624 Validation Negative METMCC_624 7 117282517 117282517 C 7 130142496 130142496 A T T PHF14:NM_014660: nonsynonymo exon13:c.C2275T:p. us SNV L759F PRPS1L1:NM_1758 nonsynonymo PRPS1L1 86:exon1:c.C446T:p. us SNV P149L DNAH11:NM_00127 nonsynonymo DNAH11 7115:exon79:c.G129 us SNV 37A:p.E4313K BMPER:NM_133468 nonsynonymo BMPER :exon5:c.G335A:p.G us SNV 112E PHF14 NA NA NA 27 0 0% 23 14 37.84% NA NA rs372570 347 18 0 0% 57 36 38.71% NA NA NA 14 0 0% 31 13 29.55% NA NA NA 14 0 0% 25 16 39.02% PSPH nonsynonymo PSPH:NM_004577:e NA us SNV xon4:c.G64A:p.D22N NA NA 18 0 0% 31 32 50.79% SAMD9 SAMD9:NM_001193 307:exon2:c.G4351C nonsynonymo :p.E1451Q,SAMD9: NA us SNV NM_017654:exon3:c .G4351C:p.E1451Q NA NA 17 0 0% 28 14 33.33% NA rs733987 34 26 0 0% 98 44 30.99% NA rs737142 59 22 0 0% 98 32 24.62% NA NA 20 0 0% 32 13 28.89% rs148122 007 24 0 0% 31 20 39.22% NA NA 14 0 0% 28 15 34.88% ID=COSM3 3309;OCC URENCE= NA 1(large_int estine) NA 20 0 0% 40 14 25.93% NA NA NA 12 0 0% 36 24 NA NA NA 20 0 0% 49 25 33.78% NA NA NA 10 0 0% 63 43 40.57% NA NA NA 15 0 0% 12 17 58.62% NA NA NA 12 0 0% 37 27 42.19% NA NA NA 20 0 0% 36 15 29.41% NA NA NA 13 0 0% 71 53 42.74% NA NA NA 14 0 0% 18 15 45.45% NA NA NA 17 0 0% 43 21 32.81% MUC3A:NM_005960: nonsynonymo MUC3A exon2:c.C2354A:p.T NA us SNV 785K MUC3A:NM_005960: nonsynonymo MUC3A exon2:c.T2993C:p.M NA us SNV 998T PRKAR2B:NM_0027 nonsynonymo PRKAR2B 36:exon7:c.A786T:p. NA us SNV K262N CFTR MEST ID=COSM1 CFTR:NM_000492:e nonsynonymo 08557;OC xon23:c.C3743T:p.S NA us SNV CURENCE 1248L =1(skin) nonsynonymo us SNV Validation Negative METMCC_624 7 133002040 133002040 C T EXOC4 nonsynonymo us SNV Validation Negative METMCC_624 7 133059700 133059700 G A EXOC4 nonsynonymo us SNV Validation Negative METMCC_624 7 142723840 142723840 C T OR9A2 nonsynonymo us SNV Validation Negative METMCC_624 7 143573509 143573509 C T FAM115A nonsynonymo us SNV Validation Negative METMCC_624 8 13357336 13357336 G A DLC1 nonsynonymo us SNV Validation Negative METMCC_624 8 61773683 61773683 C T CHD7 nonsynonymo us SNV Validation Negative METMCC_624 8 70498600 70498600 G A SULF1 nonsynonymo us SNV Validation Negative METMCC_624 8 80942405 80942405 G A MRPS28 nonsynonymo us SNV Validation Negative METMCC_624 8 103323583 103323583 G A UBR5 nonsynonymo us SNV Validation Negative METMCC_624 8 103357660 103357660 G C UBR5 nonsynonymo us SNV MEST:NM_0012539 01:exon9:c.A632T:p. Y211F,MEST:NM_00 1253902:exon9:c.A6 32T:p.Y211F,MEST: NM_001253900:exo n10:c.A719T:p.Y240 F,MEST:NM_002402 :exon10:c.A761T:p.Y 254F,MEST:NM_177 524:exon10:c.A734T :p.Y245F,MEST:NM _177525:exon10:c.A 734T:p.Y245F EXOC4:NM_001037 126:exon5:c.C659T: p.S220F,EXOC4:NM _021807:exon5:c.C6 59T:p.S220F EXOC4:NM_001037 126:exon7:c.G1126A :p.D376N,EXOC4:N M_021807:exon7:c. G1126A:p.D376N OR9A2:NM_001001 658:exon1:c.G380A: p.R127K FAM115A:NM_0012 06938:exon2:c.G193 A:p.E65K,FAM115A: NM_014719:exon2:c .G193A:p.E65K DLC1:NM_024767:e xon2:c.C245T:p.S82 L,DLC1:NM_182643: exon2:c.C245T:p.S8 2L CHD7:NM_017780:e xon35:c.C7829T:p.P 2610L SULF1:NM_0011282 04:exon6:c.G421A:p. G141R,SULF1:NM_0 01128206:exon6:c.G 421A:p.G141R,SULF 1:NM_001128205:ex on7:c.G421A:p.G141 R,SULF1:NM_01517 0:exon7:c.G421A:p. G141R MRPS28:NM_01401 8:exon1:c.C79T:p.R2 7W UBR5:NM_00128287 3:exon20:c.C2560T: p.L854F,UBR5:NM_ 015902:exon20:c.C2 560T:p.L854F UBR5:NM_00128287 3:exon8:c.C850G:p. R284G,UBR5:NM_0 15902:exon8:c.C850 G:p.R284G NA 40% Validation Negative METMCC_624 8 113585762 113585762 C T CSMD3 nonsynonymo us SNV Validation Negative METMCC_624 8 117738276 117738276 C T EIF3H nonsynonymo us SNV Validation Negative METMCC_624 8 120594675 120594675 C T ENPP2 nonsynonymo us SNV Validation Negative METMCC_624 8 130891647 130891647 G A FAM49B nonsynonymo us SNV Validation Negative METMCC_624 8 139688845 139688845 G A COL22A1 nonsynonymo us SNV Validation Negative METMCC_624 9 32633858 32633858 T A TAF1L nonsynonymo us SNV Validation Negative METMCC_624 9 32633875 32633875 C T TAF1L nonsynonymo us SNV CSMD3:NM_052900: exon23:c.G3698A:p. G1233E,CSMD3:NM _198123:exon24:c.G 4010A:p.G1337E,CS MD3:NM_198124:ex on25:c.G3890A:p.G1 297E EIF3H:NM_003756:e xon2:c.G268A:p.D90 N ENPP2:NM_001040 092:exon18:c.G1711 A:p.D571N,ENPP2:N M_001130863:exon1 8:c.G1711A:p.D571 N,ENPP2:NM_00620 9:exon19:c.G1867A: p.D623N FAM49B:NM_01662 3:exon3:c.C61T:p.L2 1F,FAM49B:NM_001 256763:exon4:c.C61 T:p.L21F COL22A1:NM_1528 88:exon41:c.C3106T :p.P1036S TAF1L:NM_153809: exon1:c.A1720T:p.N 574Y TAF1L:NM_153809: exon1:c.G1703A:p.R 568K NA NA NA 26 0 0% 29 18 38.30% NA NA NA 19 0 0% 27 28 50.91% NA NA NA 21 0 0% 36 13 26.53% NA NA NA 34 0 0% 34 22 39.29% NA NA NA 13 0 0% 43 15 25.86% NA NA NA 16 0 0% 14 34 70.83% NA NA NA 16 0 0% 14 32 69.57% NA 20 0 0% 34 22 39.29% NA 17 0 0% 64 41 39.05% rs148078 245 24 0 0% 33 23 41.07% NA 13 0 0% 56 40 41.67% ID=COSM3 RORB:NM_006914:e 216921;OC nonsynonymo xon5:c.G673A:p.E22 CURENCE NA us SNV 5K =1(pancrea s) PRUNE2:NM_01522 nonsynonymo 5:exon8:c.G1912A:p. NA NA us SNV A638T Validation Negative METMCC_624 9 77275568 77275568 G A RORB Validation Negative METMCC_624 9 79325278 79325278 C T PRUNE2 T SLC28A3:NM_00119 9633:exon12:c.G127 nonsynonymo SLC28A3 2A:p.M424I,SLC28A NA us SNV 3:NM_022127:exon1 3:c.G1272A:p.M424I Validation Negative METMCC_624 Validation Negative METMCC_624 Validation Negative METMCC_624 9 9 9 86902971 96062392 99798911 86902971 C 96062392 C 99798911 G T A 0.000799 ID=COSM1 701339,CO SM170133 NA 8;OCCUR ENCE=1(s kin) WNK2 WNK2:NM_006648:e xon25:c.C6175T:p.R nonsynonymo 2059C,WNK2:NM_0 us SNV 01282394:exon26:c. C6286T:p.R2096C CTSV CTSV:NM_00120157 5:exon5:c.C515T:p.P nonsynonymo 172L,CTSV:NM_001 NA us SNV 333:exon5:c.C515T: p.P172L NA NA 13 0 0% 50 38 43.18% SMC2:NM_0010425 50:exon10:c.G1183A :p.E395K,SMC2:NM _001042551:exon10: nonsynonymo c.G1183A:p.E395K, NA us SNV SMC2:NM_0012656 02:exon10:c.G1183A :p.E395K,SMC2:NM _006444:exon10:c.G 1183A:p.E395K NA NA 23 0 0% 22 13 37.14% NA NA 15 0 0% 36 29 44.62% NA NA 12 0 0% 52 34 39.53% NA NA 16 0 0% 45 28 38.36% NA NA 16 0 0% 17 11 39.29% rs942202 2 13 0 0% 138 17 10.97% NA 22 0 0% 38 14 26.92% Validation Negative METMCC_624 9 106874024 106874024 G A SMC2 Validation Negative METMCC_624 9 112963292 112963292 G A C9orf152 Validation Negative METMCC_624 9 131115434 131115434 G T C9orf152:NM_00101 nonsynonymo 2993:exon2:c.C656T NA us SNV :p.P219L SLC27A4:NM_00509 nonsynonymo SLC27A4 4:exon8:c.G1118T:p. NA us SNV S373I Validation Negative METMCC_624 10 7318865 7318865 C T SFMBT2 Validation Negative METMCC_624 10 16941165 16941165 G A CUBN Validation Negative METMCC_624 10 46999601 46999601 G A GPRIN2 Validation Negative METMCC_624 10 92635832 92635832 G A RPP30 SFMBT2:NM_00101 8039:exon7:c.G859A nonsynonymo :p.E287K,SFMBT2:N NA us SNV M_001029880:exon7 :c.G859A:p.E287K CUBN:NM_001081:e nonsynonymo xon54:c.C8428T:p.H NA us SNV 2810Y GPRIN2:NM_014696 nonsynonymo :exon3:c.G721A:p.V NA us SNV 241M RPP30:NM_0011045 46:exon4:c.G247A:p. nonsynonymo D83N,RPP30:NM_00 NA us SNV 6413:exon4:c.G247A :p.D83N 0.00639 NA Validation Negative METMCC_624 10 98108059 G A OPALIN nonsynonymo us SNV Validation Negative METMCC_624 10 105133204 105133204 T C TAF5 nonsynonymo us SNV Validation Negative METMCC_624 10 116233657 116233657 G A ABLIM1 nonsynonymo us SNV Validation Negative METMCC_624 10 116233684 116233684 G C ABLIM1 nonsynonymo us SNV Validation Negative METMCC_624 11 1093072 1093072 G C MUC2 nonsynonymo us SNV Validation Negative METMCC_624 11 16824809 16824809 G C PLEKHA7 nonsynonymo us SNV Validation Negative METMCC_624 11 27679532 27679532 C T BDNF nonsynonymo us SNV Validation Negative METMCC_624 11 48285858 48285858 G A OR4X1 nonsynonymo us SNV Validation Negative METMCC_624 11 98108059 83810051 83810051 C T OPALIN:NM_001040 102:exon3:c.C167T: p.P56L,OPALIN:NM_ 001284320:exon4:c. C203T:p.P68L,OPAL IN:NM_001284321:e xon4:c.C200T:p.P67 L,OPALIN:NM_0012 84326:exon5:c.C50T :p.P17L,OPALIN:NM _001284327:exon5:c .C50T:p.P17L,OPALI N:NM_033207:exon5 :c.C236T:p.P79L,OP ALIN:NM_00104010 3:exon6:c.C206T:p.P 69L,OPALIN:NM_00 1284322:exon6:c.C2 06T:p.P69L,OPALIN: NM_001284323:exo n6:c.C206T:p.P69L, OPALIN:NM_001284 324:exon6:c.C206T: p.P69L TAF5:NM_006951:ex on2:c.T649C:p.Y217 H ABLIM1:NM_006720 :exon5:c.C236T:p.S7 9L,ABLIM1:NM_001 003407:exon9:c.C92 0T:p.S307L,ABLIM1: NM_002313:exon9:c .C1100T:p.S367L,AB LIM1:NM_00100340 8:exon10:c.C1004T: p.S335L ABLIM1:NM_006720 :exon5:c.C209G:p.S 70C,ABLIM1:NM_00 1003407:exon9:c.C8 93G:p.S298C,ABLIM 1:NM_002313:exon9 :c.C1073G:p.S358C, ABLIM1:NM_001003 408:exon10:c.C977G :p.S326C MUC2:NM_002457:e xon30:c.G4891C:p.A 1631P PLEKHA7:NM_1750 58:exon14:c.C2041G :p.L681V BDNF:NM_170735:e xon1:c.G580A:p.E19 4K,BDNF:NM_00114 3805:exon2:c.G580A :p.E194K,BDNF:NM_ 001143806:exon2:c. G580A:p.E194K,BD NF:NM_001143807: exon2:c.G580A:p.E1 94K,BDNF:NM_0011 43808:exon2:c.G580 A:p.E194K,BDNF:N M_001143809:exon2 :c.G667A:p.E223K,B DNF:NM_001143812 :exon2:c.G580A:p.E 194K,BDNF:NM_001 143813:exon2:c.G58 0A:p.E194K,BDNF:N M_001143816:exon2 :c.G580A:p.E194K,B DNF:NM_001709:ex on2:c.G580A:p.E194 K,BDNF:NM_170731 :exon2:c.G604A:p.E 202K,BDNF:NM_170 732:exon2:c.G580A: p.E194K,BDNF:NM_ 170733:exon2:c.G58 OR4X1:NM_001004 726:exon1:c.G446A: p.G149E DLG2:NM_00114270 0:exon3:c.G196A:p. D66N,DLG2:NM_001 206769:exon4:c.G46 6A:p.D156N,DLG2:N M_001364:exon5:c. G349A:p.D117N,DL G2:NM_001142699: exon10:c.G664A:p.D 222N NA NA NA 20 0 0% 25 13 34.21% NA NA NA 14 0 0% 52 41 44.09% NA NA NA 15 0 0% 36 19 34.55% NA NA NA 15 0 0% 31 19 NA NA rs125759 90 26 0 0% 100 13 11.50% NA NA NA 16 0 0% 17 60 77.92% NA NA NA 30 0 0% 20 104 83.87% NA NA NA 15 0 0% 13 46 77.97% DLG2 nonsynonymo us SNV ID=COSM3 810556,CO SM381055 7,COSM38 10558,CO NA SM381055 5;OCCUR ENCE=1(br east) NA 17 0 0% 8 23 74.19% NA 19 0 0% 12 57 82.61% NA 18 0 0% 7 33 82.50% Validation Negative METMCC_624 11 85623726 85623726 C T CCDC83 ID=COSM4 CCDC83:NM_17355 nonsynonymo 29981;OC 6:exon9:c.C829T:p.P NA us SNV CURENCE 277S =1(breast) Validation Negative METMCC_624 11 89903278 89903278 C G NAALAD2 NAALAD2:NM_0054 nonsynonymo 67:exon13:c.C1384G NA us SNV :p.Q462E NA 38% Validation Negative METMCC_624 12 8757440 8757440 G A Validation Negative METMCC_624 12 11183760 11183760 G A Validation Negative METMCC_624 12 21015712 21015712 G A Validation Negative METMCC_624 12 50746240 50746240 G C AICDA:NM_020661: nonsynonymo exon4:c.C506T:p.S1 us SNV 69L TAS2R31:NM_17688 nonsynonymo TAS2R31 5:exon1:c.C175T:p.L us SNV 59F SLCO1B3:NM_0198 nonsynonymo SLCO1B3 44:exon8:c.G651A:p. us SNV M217I FAM186A:NM_0011 nonsynonymo FAM186A 45475:exon4:c.C437 us SNV 5G:p.L1459V AICDA Validation Negative METMCC_624 12 50860830 50860830 C T LARP4 Validation Negative METMCC_624 12 52794316 52794316 C T KRT82 Validation Negative METMCC_624 12 52820613 52820613 G A Validation Negative METMCC_624 12 52864969 52864969 C T Validation Negative METMCC_624 12 55615613 55615613 G A Validation Negative METMCC_624 12 72338390 72338390 C T Validation Negative METMCC_624 12 113645830 113645830 C T Validation Negative METMCC_624 12 121598709 121598709 C T Validation Negative METMCC_624 12 122295694 122295694 G C Validation Negative METMCC_624 13 28622451 28622451 G A Validation Negative METMCC_624 13 36124632 36124632 G A Validation Negative METMCC_624 13 36700097 36700097 G A Validation Negative METMCC_624 13 49833608 49833608 C G Validation Negative METMCC_624 13 49833645 49833645 A T Validation Negative METMCC_624 13 60584779 60584779 C G Validation Negative METMCC_624 13 61102584 61102584 C T Validation Negative METMCC_624 13 61987822 61987822 G C NA NA NA 21 0 0% 29 26 47.27% NA NA NA 15 0 0% 16 17 51.52% NA NA NA 32 0 0% 25 15 37.50% NA NA NA 14 0 0% 74 47 38.84% LARP4:NM_0011708 03:exon11:c.C1046T :p.S349L,LARP4:NM _001170808:exon12: c.C1259T:p.S420L,L nonsynonymo ARP4:NM_199190:e NA us SNV xon12:c.C1259T:p.S 420L,LARP4:NM_05 2879:exon13:c.C147 2T:p.S491L,LARP4: NM_199188:exon13: c.C1469T:p.S490L NA NA 10 0 0% 15 12 44.44% 0.001398 NA 12 0 0% 57 34 37.36% KRT82:NM_033033: nonsynonymo exon4:c.G772A:p.E2 NA us SNV 58K KRT75:NM_004693: nonsynonymo KRT75 exon8:c.C1405T:p.P NA us SNV 469S ID=COSM9 KRT6C:NM_173086: 40735;OC nonsynonymo KRT6C exon5:c.G1024A:p.E CURENCE us SNV 342K =1(endome trium) OR10A7:NM_00100 nonsynonymo OR10A7 5280:exon1:c.G805A NA us SNV :p.E269K TPH2:NM_173353:e nonsynonymo TPH2 xon4:c.C464T:p.P15 NA us SNV 5L IQCD:NM_138451:e nonsynonymo IQCD xon2:c.G142A:p.E48 NA us SNV K P2RX7:NM_002562: nonsynonymo P2RX7 exon4:c.C368T:p.P1 NA us SNV 23L nonsynonymo HPD:NM_002150:ex HPD NA us SNV on3:c.C62G:p.S21C FLT3:NM_004119:ex nonsynonymo FLT3 on9:c.C1166T:p.S38 NA us SNV 9L NBEA:NM_015678:e nonsynonymo NBEA xon42:c.G6604A:p.G NA us SNV 2202R ID=COSM4 32351,CO SM432352; DCLK1:NM_004734: nonsynonymo OCCUREN DCLK1 exon2:c.C178T:p.R6 us SNV CE=1(brea 0C st),2(skin), 1(endomet rium) CDADC1:NM_00119 3478:exon4:c.C379G nonsynonymo CDADC1 :p.L127V,CDADC1:N NA us SNV M_030911:exon4:c. C379G:p.L127V CDADC1:NM_00119 3478:exon4:c.A416T nonsynonymo CDADC1 :p.K139I,CDADC1:N NA us SNV M_030911:exon4:c.A 416T:p.K139I DIAPH3:NM_001258 370:exon2:c.G7C:p. E3Q,DIAPH3:NM_03 0932:exon2:c.G7C:p. E3Q,DIAPH3:NM_00 1258367:exon6:c.G6 58C:p.E220Q,DIAPH 3:NM_001258368:ex nonsynonymo DIAPH3 on6:c.G586C:p.E196 NA us SNV Q,DIAPH3:NM_0012 58366:exon7:c.G763 C:p.E255Q,DIAPH3: NM_001042517:exo n8:c.G796C:p.E266 Q,DIAPH3:NM_0012 58369:exon8:c.G796 C:p.E266Q TDRD3:NM_001146 070:exon11:c.C1225 T:p.H409Y,TDRD3:N nonsynonymo M_001146071:exon1 TDRD3 NA us SNV 1:c.C946T:p.H316Y, TDRD3:NM_030794: exon11:c.C946T:p.H 316Y PCDH20:NM_02284 nonsynonymo PCDH20 3:exon2:c.C410G:p. NA us SNV S137C NA NA 19 0 0% 49 21 30% NA rs201362 955 19 0 0% 29 15 34.09% NA NA 25 0 0% 24 16 NA NA 21 0 0% 24 15 38.46% NA NA 12 0 0% 63 41 39.42% NA NA 14 0 0% 48 29 37.66% NA NA 10 0 0% 30 19 38.78% NA NA 19 0 0% 24 27 52.94% NA NA 28 0 0% 42 12 22.22% NA NA 16 0 0% 82 47 36.43% NA NA 14 0 0% 28 19 40.43% NA NA 10 0 0% 25 11 30.56% NA NA 19 0 0% 24 21 46.67% NA NA 16 0 0% 31 16 34.04% NA NA 10 0 0% 100 70 41.18% 40% Validation Negative METMCC_624 13 76397873 76397873 C A LMO7 Validation Negative METMCC_624 13 95121048 95121048 C T DCT Validation Negative METMCC_624 13 99116018 99116018 C T Validation Negative METMCC_624 13 107211950 107211950 C T Validation Negative METMCC_624 14 56078894 56078894 G T Validation Negative METMCC_624 14 58599946 58599946 C T Validation Negative METMCC_624 14 68274613 68274613 C T Validation Negative METMCC_624 14 69707776 69707776 C A Validation Negative METMCC_624 14 89338785 97009224 89338785 C T STK24 LMO7:NM_015842:e xon12:c.C2114A:p.T nonsynonymo 705K,LMO7:NM_005 NA us SNV 358:exon14:c.C1967 A:p.T656K DCT:NM_001129889 :exon2:c.G547A:p.D nonsynonymo 183N,DCT:NM_0019 NA us SNV 22:exon2:c.G547A:p. D183N STK24:NM_0012866 49:exon6:c.G799A:p. E267K,STK24:NM_0 nonsynonymo 01032296:exon7:c.G us SNV 856A:p.E286K,STK2 4:NM_003576:exon7 :c.G892A:p.E298K ARGLU1:NM_01801 nonsynonymo ARGLU1 1:exon2:c.G403A:p. us SNV E135K KTN1:NM_00107952 1:exon2:c.G128T:p. R43I,KTN1:NM_004 986:exon2:c.G128T: nonsynonymo KTN1 p.R43I,KTN1:NM_00 us SNV 1079522:exon3:c.G1 28T:p.R43I,KTN1:N M_001271014:exon3 :c.G128T:p.R43I C14orf37:NM_00100 nonsynonymo C14orf37 1872:exon3:c.G1483 us SNV A:p.E495K ZFYVE26:NM_01534 nonsynonymo ZFYVE26 6:exon5:c.G388A:p. us SNV G130S EXD2:NM_018199:e xon8:c.C1450A:p.L4 84I,EXD2:NM_00119 3361:exon9:c.C1825 A:p.L609I,EXD2:NM nonsynonymo _001193363:exon9:c EXD2 us SNV .C1825A:p.L609I,EX D2:NM_001193360:e xon10:c.C1825A:p.L 609I,EXD2:NM_0011 93362:exon10:c.C18 25A:p.L609I NA NA 18 0 0% 60 22 26.83% NA NA 26 0 0% 43 27 38.57% ID=COSM1 99079;OC CURENCE NA =1(large_in testine) NA 11 0 0% 59 37 38.54% NA NA NA 19 0 0% 36 37 50.68% NA NA NA 21 0 0% 29 25 46.30% 0.0002 NA 27 0 0% 57 29 33.72% NA NA NA NA 13 0 0% 53 32 37.65% NA NA NA 18 0 0% 43 22 33.85% TTC8 TTC8:NM_00128878 2:exon12:c.C742T:p. H248Y,TTC8:NM_19 8310:exon12:c.C121 6T:p.H406Y,TTC8:N M_001288783:exon1 nonsynonymo 3:c.C619T:p.H207Y, NA us SNV TTC8:NM_198309:e xon13:c.C1306T:p.H 436Y,TTC8:NM_001 288781:exon14:c.C1 384T:p.H462Y,TTC8 :NM_144596:exon14 :c.C1336T:p.H446Y NA NA 16 0 0% 29 24 45.28% PAPOLA:NM_00129 3632:exon12:c.C533 T:p.P178L,PAPOLA: NM_001293627:exo nonsynonymo n14:c.C1283T:p.P42 NA us SNV 8L,PAPOLA:NM_001 293628:exon14:c.C5 33T:p.P178L,PAPOL A:NM_032632:exon1 4:c.C1283T:p.P428L NA NA 16 0 0% 42 28 NA NA NA 11 0 0% 72 40 35.71% NA NA NA 22 0 0% 37 19 33.93% NA NA NA 21 0 0% 43 32 42.67% NA NA NA 18 0 0% 36 28 43.75% Validation Negative METMCC_624 14 97009224 C T PAPOLA Validation Negative METMCC_624 14 105196387 105196387 C A ADSSL1 Validation Negative METMCC_624 15 26793064 26793064 G A GABRB3 Validation Negative METMCC_624 15 31294414 31294414 G C TRPM1 Validation Negative METMCC_624 15 40282475 40282475 G A EIF2AK4 ADSSL1:NM_19916 nonsynonymo 5:exon1:c.C158A:p.P us SNV 53Q GABRB3:NM_00119 1320:exon7:c.C1043 T:p.S348L,GABRB3: NM_001191321:exo n7:c.C1085T:p.S362 L,GABRB3:NM_0008 nonsynonymo 14:exon9:c.C1298T: us SNV p.S433L,GABRB3:N M_021912:exon9:c. C1298T:p.S433L,GA BRB3:NM_00127863 1:exon10:c.C1043T: p.S348L TRPM1:NM_001252 020:exon27:c.C4540 G:p.Q1514E,TRPM1 nonsynonymo :NM_002420:exon27 us SNV :c.C4423G:p.Q1475 E,TRPM1:NM_00125 2024:exon28:c.C448 9G:p.Q1497E EIF2AK4:NM_00101 nonsynonymo 3703:exon16:c.G252 us SNV 8A:p.G843E 40% Validation Negative METMCC_624 15 45444159 45444159 C G DUOX1 Validation Negative METMCC_624 15 52564860 52564860 C T MYO5C Validation Negative METMCC_624 15 52645825 52645825 C T MYO5A DUOX1:NM_175940: exon24:c.C3102G:p. nonsynonymo F1034L,DUOX1:NM_ NA us SNV 017434:exon25:c.C3 102G:p.F1034L MYO5C:NM_018728 nonsynonymo :exon6:c.G667A:p.E NA us SNV 223K NA NA 11 0 0% 58 41 41.41% NA NA 15 0 0% 32 12 27.27% NA NA 24 0 0% 38 22 36.67% NA NA NA 14 0 0% 26 19 42.22% NA NA NA 14 0 0% 33 11 NA NA NA 15 0 0% 35 20 36.36% NA NA NA 16 0 0% 42 19 31.15% NA NA NA 11 0 0% 48 29 37.66% NA NA NA 25 0 0% 29 18 38.30% NA NA NA 14 0 0% 55 32 36.78% NA NA NA 15 0 0% 80 44 35.48% NA NA NA 15 0 0% 73 43 37.07% NA NA NA 16 0 0% 74 41 35.65% NA NA NA 22 0 0% 47 29 38.16% NA NA NA 13 0 0% 56 35 38.46% NA NA NA 19 0 0% 28 11 28.21% NA NA NA 21 0 0% 37 13 NA NA NA 13 0 0% 38 30 44.12% NA NA NA 10 0 0% 45 35 43.75% NA NA NA 13 0 0% 48 34 41.46% MYO5A:NM_000259: exon27:c.G3598A:p. nonsynonymo E1200K,MYO5A:NM NA us SNV _001142495:exon27: c.G3598A:p.E1200K Validation Negative METMCC_624 15 57929962 57929962 G C GCOM1, MYZAP nonsynonymo us SNV Validation Negative METMCC_624 15 58256244 58256244 G T ALDH1A2 nonsynonymo us SNV Validation Negative METMCC_624 15 75692419 75692419 C T SIN3A nonsynonymo us SNV Validation Negative METMCC_624 15 80872774 80872774 G A ARNT2 nonsynonymo us SNV Validation Negative METMCC_624 15 89400152 89400152 G A ACAN nonsynonymo us SNV Validation Negative METMCC_624 15 91162980 91162980 C T CRTC3 nonsynonymo us SNV Validation Negative METMCC_624 15 101597064 101597064 G A LRRK1 nonsynonymo us SNV Validation Negative METMCC_624 16 2814577 2814577 G A SRRM2 nonsynonymo us SNV Validation Negative METMCC_624 16 2814586 2814586 G A SRRM2 nonsynonymo us SNV Validation Negative METMCC_624 16 4242450 4242450 C T SRL nonsynonymo us SNV Validation Negative METMCC_624 16 10524907 10524907 G A ATF7IP2 nonsynonymo us SNV Validation Negative METMCC_624 16 10729649 10729649 C G TEKT5 nonsynonymo us SNV Validation Negative METMCC_624 16 18860587 18860587 G A SMG1 nonsynonymo us SNV Validation Negative METMCC_624 16 20796320 20796320 G A ACSM3 nonsynonymo us SNV Validation Negative METMCC_624 16 20803351 20803351 C G ACSM3 nonsynonymo us SNV Validation Negative METMCC_624 16 23366650 23366650 C T SCNN1B nonsynonymo us SNV Validation Negative METMCC_624 16 25139860 25139860 G A LCMT1 nonsynonymo us SNV GCOM1:NM_001018 090:exon9:c.G1003C :p.D335H,GCOM1:N M_001018091:exon9 :c.G1003C:p.D335H, MYZAP:NM_001018 100:exon9:c.G1003C :p.D335H,GCOM1:N M_001285900:exon9 :c.G1003C:p.D335H, MYZAP:NM_152451: exon9:c.G1003C:p.D 335H ALDH1A2:NM_1706 97:exon7:c.C637A:p. H213N,ALDH1A2:N M_170696:exon8:c. C811A:p.H271N,ALD H1A2:NM_003888:e xon9:c.C925A:p.H30 9N,ALDH1A2:NM_00 1206897:exon10:c.C 862A:p.H288N SIN3A:NM_0011453 57:exon12:c.G1816A :p.E606K,SIN3A:NM _001145358:exon12: c.G1816A:p.E606K, SIN3A:NM_015477:e xon12:c.G1816A:p.E 606K ARNT2:NM_014862: exon16:c.G1636A:p. G546R ACAN:NM_001135:e xon12:c.G4336A:p.E 1446K,ACAN:NM_01 3227:exon12:c.G433 6A:p.E1446K CRTC3:NM_001042 574:exon9:c.C707T: p.S236F,CRTC3:NM _022769:exon9:c.C7 07T:p.S236F LRRK1:NM_024652: exon28:c.G4336A:p. D1446N SRRM2:NM_016333: exon11:c.G4048A:p. E1350K SRRM2:NM_016333: exon11:c.G4057A:p. E1353K SRL:NM_001098814 :exon6:c.G1126A:p. D376N ATF7IP2:NM_02499 7:exon3:c.G430A:p. D144N,ATF7IP2:NM _001256160:exon4:c .G430A:p.D144N TEKT5:NM_144674: exon6:c.G1213C:p.E 405Q SMG1:NM_015092:e xon36:c.C5575T:p.P 1859S ACSM3:NM_005622: exon8:c.G1034A:p.S 345N,ACSM3:NM_2 02000:exon8:c.G103 4A:p.S345N ACSM3:NM_005622: exon11:c.C1354G:p. L452V SCNN1B:NM_00033 6:exon4:c.C616T:p.R 206W LCMT1:NM_001032 391:exon2:c.G178A: p.E60K,LCMT1:NM_ 016309:exon2:c.G17 8A:p.E60K 25% 26% Validation Negative METMCC_624 16 66858778 66858778 G C NAE1 nonsynonymo us SNV Validation Negative METMCC_624 16 70176575 70176575 A G PDPR nonsynonymo us SNV Validation Negative METMCC_624 17 18675840 18675840 G A FBXW10 nonsynonymo us SNV Validation Negative METMCC_624 17 33310413 33310413 C T LIG3 nonsynonymo us SNV Validation Negative METMCC_624 17 38935839 38935839 G T KRT27 nonsynonymo us SNV Validation Negative METMCC_624 17 49123957 49123957 G A SPAG9 nonsynonymo us SNV Validation Negative METMCC_624 17 70117654 70117654 C T SOX9 nonsynonymo us SNV Validation Negative METMCC_624 18 9254763 9254763 A T ANKRD12 nonsynonymo us SNV Validation Negative METMCC_624 18 10797495 10797495 C G PIEZO2 nonsynonymo us SNV Validation Negative METMCC_624 18 18550406 18550406 A G ROCK1 nonsynonymo us SNV Validation Negative METMCC_624 18 25727646 25727646 G C CDH2 nonsynonymo us SNV Validation Negative METMCC_624 18 28651772 28651772 G C DSC2 nonsynonymo us SNV Validation Negative METMCC_624 18 56203200 56203200 C T ALPK2 nonsynonymo us SNV Validation Negative METMCC_624 18 60231832 60231832 C T ZCCHC2 nonsynonymo us SNV Validation Negative METMCC_624 18 76757206 76757206 G A SALL3 nonsynonymo us SNV Validation Negative METMCC_624 19 5832151 5832151 C A FUT6 nonsynonymo us SNV Validation Negative METMCC_624 19 6916322 6916322 G A EMR1 Validation Negative METMCC_624 19 9046793 9046793 T A MUC16 Validation Negative METMCC_624 19 9639934 9639934 C G ZNF426 NAE1:NM_00128650 0:exon4:c.C238G:p. Q80E,NAE1:NM_003 905:exon4:c.C229G: p.Q77E,NAE1:NM_0 01018159:exon5:c.C 211G:p.Q71E PDPR:NM_017990:e xon13:c.A1591G:p.K 531E FBXW10:NM_00126 7586:exon11:c.G196 3A:p.E655K,FBXW1 0:NM_001267585:ex on12:c.G2122A:p.E7 08K LIG3:NM_002311:ex on2:c.C389T:p.S130 F,LIG3:NM_013975: exon2:c.C389T:p.S1 30F KRT27:NM_181537: exon5:c.C887A:p.A2 96D SPAG9:NM_001251 971:exon1:c.C65T:p. S22F SOX9:NM_000346:e xon1:c.C122T:p.S41 L ANKRD12:NM_0010 83625:exon8:c.A142 9T:p.I477L,ANKRD1 2:NM_001204056:ex on8:c.A1429T:p.I477 L,ANKRD12:NM_015 208:exon9:c.A1498T :p.I500L PIEZO2:NM_022068 :exon12:c.G1404C:p. E468D ROCK1:NM_005406: exon23:c.T2723C:p. L908P CDH2:NM_001792:e xon2:c.C163G:p.L55 V DSC2:NM_004949:e xon13:c.C1924G:p.P 642A,DSC2:NM_024 422:exon13:c.C1924 G:p.P642A ALPK2:NM_052947: exon5:c.G4219A:p.D 1407N ZCCHC2:NM_01774 2:exon10:c.C1715T: p.S572L SALL3:NM_171999: exon3:c.G3787A:p.A 1263T FUT6:NM_00104070 1:exon2:c.G428T:p. W143L,FUT6:NM_00 0150:exon3:c.G428T :p.W143L NA NA NA 18 0 0% 6 NA NA rs112549 981 23 0 0% 98 11 10.09% NA NA NA 19 0 0% 15 47 75.81% 0.000399 NA 17 0 0% 22 78 NA 18 75% 78% NA NA NA 12 0 0% 19 65 77.38% NA NA NA 18 0 0% 12 44 78.57% NA NA NA 14 0 0% 30 135 81.82% NA NA NA 25 0 0% 25 22 46.81% NA NA NA 11 0 0% 54 23 29.87% NA NA NA 23 0 0% 16 10 38.46% NA NA NA 23 0 0% 19 16 45.71% NA NA rs368353 349 23 0 0% 32 24 42.86% NA NA NA 18 0 0% 54 28 34.15% NA NA NA 19 0 0% 22 16 42.11% NA NA NA 14 0 0% 76 61 44.53% NA NA NA 12 0 0% 84 48 36.36% EMR1:NM_0012562 54:exon9:c.G940A:p. A314T,EMR1:NM_00 1256255:exon9:c.G8 32A:p.A278T,EMR1: nonsynonymo NM_001256252:exo NA us SNV n11:c.G1207A:p.A40 3T,EMR1:NM_00125 6253:exon12:c.G136 3A:p.A455T,EMR1:N M_001974:exon12:c. G1363A:p.A455T NA NA 10 0 0% 34 22 39.29% NA NA 15 0 0% 39 22 36.07% NA NA 15 0 0% 51 28 35.44% NA NA 12 0 0% 28 24 46.15% NA NA 22 0 0% 23 12 34.29% MUC16:NM_024690: nonsynonymo exon5:c.A34838T:p. NA us SNV D11613V ZNF426:NM_024106 nonsynonymo :exon8:c.G787C:p.D NA us SNV 263H Validation Negative METMCC_624 19 10568630 10568630 C T PDE4A PDE4A:NM_006202: exon3:c.C236T:p.P7 9L,PDE4A:NM_0011 11307:exon8:c.C953 T:p.P318L,PDE4A:N nonsynonymo M_001111308:exon8 NA us SNV :c.C875T:p.P292L,P DE4A:NM_00111130 9:exon8:c.C770T:p.P 257L,PDE4A:NM_00 1243121:exon10:c.C 887T:p.P296L Validation Negative METMCC_624 19 11978542 11978542 G T ZNF439 ZNF439:NM_152262 nonsynonymo :exon3:c.G658T:p.G NA us SNV 220W Validation Negative METMCC_624 19 17918731 17918731 C A B3GNT3 Validation Negative METMCC_624 19 21719237 21719237 G A ZNF429 Validation Negative METMCC_624 19 41512885 41512885 G A CYP2B6 Validation Negative METMCC_624 19 42222097 42222097 G A CEACAM 5 Validation Negative METMCC_624 19 48305555 48305555 G A TPRX1 Validation Negative METMCC_624 19 50753776 50753776 A G MYH14 Validation Negative METMCC_624 19 53384778 53384778 C T ZNF320 Validation Negative METMCC_624 19 57888636 57888636 G C ZNF547 Validation Negative METMCC_624 19 58352827 58352827 G C ZNF587B Validation Negative METMCC_624 20 36405816 36405816 G A CTNNBL1 Validation Negative METMCC_624 20 44592138 44592138 G A ZNF335 Validation Negative METMCC_624 20 49236640 49236640 G A FAM65C Validation Negative METMCC_624 20 58519563 58519563 G C FAM217B Validation Negative METMCC_624 Validation Negative METMCC_624 Validation Negative METMCC_624 21 22 22 41143130 24726231 25115716 41143130 C 24726231 C 25115716 G B3GNT3:NM_01425 nonsynonymo 6:exon2:c.C115A:p. us SNV Q39K ZNF429:NM_001001 nonsynonymo 415:exon4:c.G382A: us SNV p.G128R CYP2B6:NM_00076 nonsynonymo 7:exon4:c.G560A:p. us SNV R187Q CEACAM5:NM_0012 91484:exon6:c.G128 nonsynonymo 8A:p.G430R,CEACA us SNV M5:NM_004363:exo n6:c.G1288A:p.G430 R TPRX1:NM_198479: nonsynonymo exon2:c.C713T:p.P2 us SNV 38L MYH14:NM_024729: exon14:c.A1637G:p. N546S,MYH14:NM_ nonsynonymo 001077186:exon15:c us SNV .A1661G:p.N554S,M YH14:NM_00114580 9:exon15:c.A1661G: p.N554S ZNF320:NM_207333 nonsynonymo :exon4:c.G601A:p.D us SNV 201N ZNF547:NM_173631 nonsynonymo :exon4:c.G292C:p.D us SNV 98H ZNF587B:NM_00120 nonsynonymo 4818:exon3:c.G785C us SNV :p.R262T CTNNBL1:NM_0308 77:exon8:c.G820A:p. nonsynonymo D274N,CTNNBL1:N us SNV M_001281495:exon9 :c.G739A:p.D247N ZNF335:NM_022095 nonsynonymo :exon9:c.C1507T:p.R us SNV 503C FAM65C:NM_00129 0268:exon3:c.C152T nonsynonymo :p.S51L,FAM65C:NM us SNV _080829:exon3:c.C1 40T:p.S47L FAM217B:NM_0011 90827:exon4:c.G94C :p.E32Q,FAM217B:N nonsynonymo M_022106:exon4:c. us SNV G565C:p.E189Q,FA M217B:NM_0011908 26:exon5:c.G565C:p. E189Q NA NA NA 13 0 0% 47 27 36.49% NA NA NA 25 0 0% 31 26 45.61% NA NA rs141530 852 21 0 0% 34 30 46.88% NA NA NA 17 0 0% 61 41 40.20% NA NA rs147380 237 12 0 0% 82 16 16.33% NA NA NA 10 0 0% 52 24 31.58% NA NA NA 13 0 0% 16 12 42.86% NA NA NA 19 0 0% 46 42 47.73% NA NA NA 13 0 0% 26 21 44.68% NA NA NA 14 0 0% 46 25 35.21% NA NA NA 13 0 0% 67 38 36.19% ID=COSM2 24049;OC NA CURENCE =1(skin) NA 13 0 0% 33 25 43.10% NA NA NA 14 0 0% 103 39 27.46% ID=COSM2 IGSF5:NM_0010804 75551;OC nonsynonymo 44:exon4:c.C706T:p. CURENCE NA us SNV R236W =1(large_in testine) NA 14 0 0% 29 25 46.30% T IGSF5 T SPECC1L:NM_0011 45468:exon7:c.C222 8T:p.S743F,SPECC nonsynonymo 1L:NM_001254732:e SPECC1L NA us SNV xon7:c.C2228T:p.S7 43F,SPECC1L:NM_0 15330:exon8:c.C222 8T:p.S743F NA NA 17 0 0% 38 22 36.67% A PIWIL3 PIWIL3:NM_001008 496:exon20:c.C2531 nonsynonymo T:p.P844L,PIWIL3:N NA us SNV M_001255975:exon2 0:c.C2504T:p.P835L NA NA 22 0 0% 45 20 30.77% PIWIL3:NM_001008 496:exon19:c.C2344 nonsynonymo T:p.P782S,PIWIL3:N NA us SNV M_001255975:exon1 9:c.C2317T:p.P773S 0.000399 NA 17 0 0% 43 12 21.82% Validation Negative METMCC_624 22 25119137 25119137 G A PIWIL3 Validation Negative METMCC_624 22 26224846 26224846 G A MYO18B Validation Negative METMCC_624 22 26868878 26868878 C T HPS4 Validation Negative METMCC_624 22 32109432 32109432 C T PRR14L Validation Negative METMCC_624 22 38120242 38120242 G A TRIOBP Validation Negative METMCC_624 22 39123335 39123335 C T GTPBP1 MYO18B:NM_03260 nonsynonymo 8:exon15:c.G2890A: us SNV p.E964K HPS4:NM_152841:e xon3:c.G289A:p.D97 nonsynonymo N,HPS4:NM_022081 us SNV :exon5:c.G304A:p.D 102N PRR14L:NM_173566 nonsynonymo :exon4:c.G4393A:p. us SNV E1465K TRIOBP:NM_001039 nonsynonymo 141:exon7:c.G1679A us SNV :p.R560K GTPBP1:NM_00428 nonsynonymo 6:exon9:c.C1519T:p. us SNV P507S NA NA NA 10 0 0% 54 30 35.71% NA NA NA 16 0 0% 31 23 42.59% NA NA NA 18 0 0% 47 43 47.78% NA NA NA 16 0 0% 95 22 18.80% NA NA NA 10 0 0% 44 26 37.14% Validation Negative METMCC_624 43996057 43996057 G A EFCAB6 Validation Negative METMCC_624 X 54278009 54278009 C T WNK3 Validation Negative METMCC_624 X 56291662 56291662 G A KLF8 Validation Negative METMCC_624 Validation Negative METMCC_624 Validation Negative METMCC_624 22 7 151970951 151970951 C 1 120612013 120612013 G C Validation Negative METMCC_624 2 210569345 210569345 G A Validation Negative METMCC_624 9 114185529 114185529 C T Validation Negative METMCC_624 4 19 84706514 A 84706514 G Validation Negative METMCC_624 15 T 99338516 57333123 99338516 A 57333123 C C T KMT2C EFCAB6:NM_19885 6:exon21:c.C2312T: nonsynonymo p.P771L,EFCAB6:N NA us SNV M_022785:exon23:c. C2768T:p.P923L WNK3:NM_0010028 38:exon14:c.G2479A nonsynonymo :p.A827T,WNK3:NM NA us SNV _020922:exon14:c.G 2479A:p.A827T KLF8:NM_007250:ex on3:c.G131A:p.S44N nonsynonymo ,KLF8:NM_00115929 NA us SNV 6:exon4:c.G131A:p. S44N NA NA 14 0 0% 74 19 20.43% NA NA 16 0 0% 10 25 71.43% NA NA 10 0 0% 9 15 62.50% ID=COSM1 179107;OC KMT2C:NM_170606: CURENCE nonsynonymo exon7:c.G851A:p.R2 =1(large_in NA us SNV 84Q testine),2(p rostate),3( breast) rs201009 236 41 2 4.65% 55 13 19.12% ID=COSM2 46074;OC CURENCE =1(lung),2( NS),1(oeso NA phagus),1( urinary_tra ct),2(prosta te),1(ovary) rs200646 249 5 0 0% 144 NOTCH2:NM_00120 0001:exon1:c.C8T:p. nonsynonymo NOTCH2 A3V,NOTCH2:NM_0 us SNV 24408:exon1:c.C8T: p.A3V ADAMTSL3:NM_207 ADAMTS nonsynonymo 517:exon30:c.G5032 NA L3 us SNV C:p.D1678H NM_001039538:exo MAP2 splicing NA n9:c.687+1G>A NM_001080398:exo KIAA0368 splicing NA n15:c.1750-1G>A NA 23 0 0% 30 17 36.17% NA NA 18 0 0% 24 14 36.84% NA NA 22 0 0% 26 11 29.73% RAP1GD splicing S1 NM_001100429:exo n8:c.7612A>C,NM_00110043 0:exon7:c.6352A>C,NM_021159:e xon9:c.911NA 2A>C,NM_00110042 8:exon8:c.7642A>C,NM_00110042 6:exon9:c.9112A>C,NM_00110042 7:exon9:c.908-2A>C NA NA 18 0 0% 23 11 32.35% PEG3,ZIM splicing 2 NM_001146184:exo n7:c.5661G>A,NM_00114618 7:exon7:c.1911G>A,NM_00114618 6:exon5:c.5661G>A,NM_00114618 5:exon7:c.188NA 1G>A,NM_006210:e xon8:c.5661G>A;NM_015363:e xon7:c.1911G>A,NM_00114632 7:exon8:c.1911G>A,NM_00114632 6:exon8:c.191-1G>A NA NA 11 0 0% 28 16 36.36% NA NA NA 12 0 0% 19 82 81.19% NA NA NA 13 0 0% 36 31 46.27% NA NA NA 14 0 0% 7 16 69.57% NA NA NA 12 0 0% 30 27 47.37% NA NA NA 15 0 0% 14 23 62.16% NA NA NA 29 0 0% 29 40 57.97% splicing NM_144672:exon7:c .400NA 1G>A,NM_00116168 3:exon3:c.163-1G>A NA NA 11 0 0% 48 24 33.33% splicing NM_172236:exon4:c .430NA 1G>A,NM_015352:e xon4:c.430-1G>A NA NA 13 0 0% 56 22 28.21% 17 4889279 4889279 C T CAMTA2 splicing Validation Negative METMCC_624 17 40880842 40880842 C T EZH1 splicing 29972638 29972638 G T IL1RAPL1 splicing Validation Negative METMCC_624 8 68105698 68105698 G A CSPP1 Validation Negative METMCC_624 16 57206285 57206285 C T FAM192A splicing Validation Negative METMCC_624 5 5186366 5186366 T C ADAMTS splicing 16 Validation Negative METMCC_624 Validation Negative METMCC_624 16 20 21698733 30804411 21698733 G 30804411 G A A 5.88% NA Validation Negative METMCC_624 Validation Negative METMCC_624 X 9 OTOA POFUT1 splicing NM_001171166:exo n3:c.381G>A,NM_00117116 8:exon4:c.1011G>A,NM_00117116 7:exon4:c.1011G>A,NM_015099:e xon4:c.32-1G>A NM_001991:exon4:c .117+1G>A NM_014271:exon10: c.1202-1G>T NM_024790:exon28: c.33161G>A,NM_00129133 9:exon25:c.22811G>A NM_024946:exon5:c .227-1G>A NM_139056:exon5:c .963+2T>C Validation Negative METMCC_624 Validation Negative METMCC_624 12 109928849 109928849 G 1 36887753 36887753 G A UBE3B splicing A OSCP1 stopgain NM_183415:exon9:c .631NA 1G>A,NM_130466:e xon9:c.631-1G>A OSCP1:NM_145047: exon7:c.C817T:p.Q2 NA 73X NA NA 18 0 0% 34 21 38.18% NA NA 12 0 0% 42 22 34.38% NA NA 17 0 0% 118 28 19.18% Validation Negative METMCC_624 1 144886137 144886137 G A PDE4DIP stopgain PDE4DIP:NM_00119 8834:exon23:c.C309 7T:p.Q1033X,PDE4 DIP:NM_014644:exo NA n23:c.C3097T:p.Q10 33X,PDE4DIP:NM_0 01198832:exon26:c. C3295T:p.Q1099X Validation Negative METMCC_624 1 201057025 201057025 C T CACNA1S stopgain CACNA1S:NM_0000 69:exon7:c.G933A:p. NA W311X NA NA 14 0 0% 72 30 29.41% NA NA 12 0 0% 30 16 34.78% Validation Negative METMCC_624 2 43547591 G A THADA stopgain THADA:NM_001083 953:exon31:c.C4432 T:p.Q1478X,THADA: NA NM_022065:exon31: c.C4432T:p.Q1478X Validation Negative METMCC_624 2 187615950 187615950 C T FAM171B stopgain FAM171B:NM_1774 54:exon5:c.C814T:p. NA Q272X NA NA 14 0 0% 29 10 25.64% ROBO1:NM_001145 845:exon2:c.C238T: p.R80X,ROBO1:NM_ 133631:exon2:c.C23 NA 8T:p.R80X,ROBO1: NM_002941:exon4:c .C355T:p.R119X NA NA 21 0 0% 20 31 60.78% NA NA NA 25 0 0% 32 34 51.52% NA NA NA 20 0 0% 52 22 29.73% NA NA NA 10 0 0% 95 35 26.92% NA NA NA 11 0 0% 36 24 rs149527 170 23 0 0% 14 13 48.15% 43547591 Validation Negative METMCC_624 3 78987895 78987895 G A ROBO1 stopgain Validation Negative METMCC_624 3 108703568 108703568 C T MORC1 stopgain Validation Negative METMCC_624 3 150932041 150932041 G A P2RY14 stopgain Validation Negative METMCC_624 3 184090596 184090596 C T THPO stopgain Validation Negative METMCC_624 4 76489620 76489620 C T C4orf26 stopgain Validation Negative METMCC_624 9 17394850 17394850 C T CNTLN stopgain Validation Negative METMCC_624 9 32634645 32634645 C T TAF1L stopgain Validation Negative METMCC_624 9 91090070 91090070 G T SPIN1 stopgain Validation Negative METMCC_624 10 28283933 28283933 G A ARMC4 stopgain Validation Negative METMCC_624 10 73822522 73822522 C T SPOCK2 stopgain MORC1:NM_014429 :exon23:c.G2319A:p. W773X P2RY14:NM_001081 455:exon3:c.C64T:p. Q22X,P2RY14:NM_0 14879:exon3:c.C64T :p.Q22X THPO:NM_0011775 98:exon6:c.G750A:p. W250X,THPO:NM_0 01289997:exon7:c.G 651A:p.W217X,THP O:NM_001290026:ex on7:c.G750A:p.W25 0X,THPO:NM_00129 0027:exon8:c.G651A :p.W217X C4orf26:NM_178497 :exon2:c.C364T:p.Q 122X,C4orf26:NM_0 01257072:exon3:c.C 229T:p.Q77X CNTLN:NM_017738: exon15:c.C2398T:p. Q800X TAF1L:NM_153809: exon1:c.G933A:p.W 311X SPIN1:NM_006717:e xon6:c.G667T:p.E22 3X ARMC4:NM_001290 020:exon2:c.C139T: p.Q47X,ARMC4:NM _018076:exon2:c.C1 39T:p.Q47X SPOCK2:NM_00124 4950:exon11:c.G127 1A:p.W424X,SPOCK 2:NM_014767:exon1 2:c.G1271A:p.W424 X NA NA NA NA 15 0 0% 25 34 57.63% NA NA NA 22 0 0% 28 17 37.78% NA NA NA 10 0 0% 35 29 45.31% NA NA NA 12 0 0% 97 57 37.01% NA NA 13 0 0% 20 77 79.38% NA NA 18 0 0% 74 48 39.34% Validation Negative METMCC_624 11 117985888 117985888 C T TMPRSS stopgain 4 TMPRSS4:NM_0011 73552:exon10:c.C92 5T:p.Q309X,TMPRS S4:NM_001083947:e xon11:c.C1030T:p.Q 344X,TMPRSS4:NM _001173551:exon11: c.C1039T:p.Q347X,T NA MPRSS4:NM_00129 0094:exon11:c.C970 T:p.Q324X,TMPRSS 4:NM_001290096:ex on11:c.C604T:p.Q20 2X,TMPRSS4:NM_0 19894:exon11:c.C10 45T:p.Q349X Validation Negative METMCC_624 12 A FAM186A stopgain FAM186A:NM_0011 45475:exon4:c.C438 NA 4T:p.Q1462X 50746231 50746231 G 0.0002 40% Validation Negative METMCC_624 Validation Negative METMCC_624 13 15 49039374 38643623 49039374 C 38643623 C T T RB1 SPRED1 stopgain ID=COSM1 367318,CO SM23824; OCCUREN RB1:NM_000321:ex CE=2(centr on23:c.C2359T:p.R7 al_nervous NA 87X _system),1 (ovary),1(la rge_intesti ne),1(prost ate) rs137853 293 18 0 0% 73 31 29.81% stopgain ID=COSM1 SPRED1:NM_15259 686216;OC 4:exon7:c.C1093T:p. NA CURENCE Q365X =1(skin) NA 25 0 0% 43 27 38.57% Validation Negative METMCC_624 17 7578212 7578212 G A TP53 stopgain Validation Negative METMCC_624 17 30315474 30315474 C T SUZ12 stopgain Validation Negative METMCC_624 18 8807019 8807019 G A MTCL1 stopgain Validation Negative METMCC_624 21 22782637 22782637 G A NCAM2 stopgain 129480662 129480662 C G SLC25A1 stopgain 4 15 51535148 51535148 C 15 101865127 101865128 GG 7 128550657 128550657 C 11 64708053 64708053 C T AA T G CYP19A1 PCSK6 KCP C11orf85 unknown unknown unknown unknown TP53:NM_00112611 5:exon2:c.C241T:p.R 81X,TP53:NM_0011 26116:exon2:c.C241 T:p.R81X,TP53:NM_ 001126117:exon2:c. C241T:p.R81X,TP53 :NM_001276697:exo n2:c.C160T:p.R54X, TP53:NM_00127669 8:exon2:c.C160T:p.R 54X,TP53:NM_0012 76699:exon2:c.C160 T:p.R54X,TP53:NM_ 001126118:exon5:c. C520T:p.R174X,TP5 3:NM_000546:exon6 :c.C637T:p.R213X,T P53:NM_001126112: exon6:c.C637T:p.R2 13X,TP53:NM_0011 26113:exon6:c.C637 T:p.R213X,TP53:NM _001126114:exon6:c .C637T:p.R213X,TP 53:NM_001276695:e xon6:c.C520T:p.R17 4X,TP53:NM_00127 6696:exon6:c.C520T SUZ12:NM_015355: exon10:c.C1159T:p. Q387X MTCL1:NM_015210: exon11:c.G2565A:p. W855X NCAM2:NM_004540: exon10:c.G1239A:p. W413X SLC25A14:NM_0012 82198:exon3:c.C209 G:p.S70X,SLC25A14 :NM_001282195:exo n4:c.C314G:p.S105X ,SLC25A14:NM_001 282196:exon4:c.C30 5G:p.S102X,SLC25A 14:NM_001282197:e xon4:c.C305G:p.S10 2X NA UNKNOWN UNKNOWN UNKNOWN ID=COSM9 9618,COS M1638393, COSM996 16,COSM1 0654,COS M99617,C OSM33783 50,COSM9 9615;OCC URENCE= 11(central_ nervous_sy stem),15(st omach),1(b NA one),3(NS) ,16(upper_ aerodigesti ve_tract),2 4(oesopha gus),13(lun g),1(thyroid ),9(haemat opoietic_a nd_lymphoi d_tissue),3 (soft_tissu e),9(ovary), 6(endomet NA 13 0 0% 16 59 78.67% NA NA NA 13 0 0% 18 54 NA NA NA 10 0 0% 25 21 45.65% NA NA NA 14 0 0% 33 21 38.89% NA NA NA 15 0 0% 6 16 72.73% NA NA NA NA NA NA NA NA 17 15 12 14 0 0 0 0 0% 0% 0% 0% 25 56 57 19 13 39 46 89 NA NA NA NA NA NA rs620067 08 15 C OR4N4 unknown UNKNOWN 13 0 0% 30 12 28.57% NA NA 47 0 0% 258 20 7.19% NA NA 18 0 0% 582 58 9.06% 1 155290328 155290329 AC TT FDPS FDPS:NM_00124282 5:exon9:c.675_676T T,FDPS:NM_001135 822:exon10:c.990_9 91TT,FDPS:NM_001 nonframeshift 242824:exon10:c.99 NA substitution 0_991TT,FDPS:NM_ 001135821:exon11:c .1188_1189TT,FDPS :NM_002004:exon11 :c.1188_1189TT NA NA 23 0 0% 198 24 10.81% 1 156521849 156521850 CC TT IQGAP3 IQGAP3:NM_178229 nonframeshift :exon14:c.1486_148 NA substitution 7AA NA NA 24 0 0% 334 26 Validation Negative METMCC_624 X Validation Validation Validation Validation Negative Negative Negative Negative METMCC_624 METMCC_624 METMCC_624 METMCC_624 Validation Negative METMCC_624 22382704 22382704 G Validation Negative METMCC_603 9 133730187 133730188 GG AA ABL1 Validation Negative METMCC_603 1 Validation Negative METMCC_603 Validation Negative METMCC_603 53544091 53544092 CC TT PODN frameshift substitution ABL1:NM_007313:ex NA on3:c.311_311AA PODN:NM_0011990 82:exon4:c.627_628 TT,PODN:NM_1537 03:exon8:c.1053_10 nonframeshift 54TT,PODN:NM_00 NA substitution 1199081:exon9:c.99 6_997TT,PODN:NM _001199080:exon10: c.996_997TT 75% 34.21% 41.05% 44.66% 82.41% 7.22% NR5A2:NM_0012764 64:exon4:c.500_501 TT,NR5A2:NM_0038 22:exon4:c.578_579 TT,NR5A2:NM_2058 60:exon5:c.716_717 TT PLXNA2:NM_02517 9:exon20:c.3736_37 37TA CAPN2:NM_001146 068:exon12:c.1170_ 1171TT,CAPN2:NM_ 001748:exon12:c.14 04_1405TT FOSL2:NM_005253: exon4:c.823_824TT Validation Negative METMCC_603 1 200017552 200017553 CC TT NR5A2 nonframeshift substitution Validation Negative METMCC_603 1 208217990 208217991 CC TA PLXNA2 nonframeshift substitution Validation Negative METMCC_603 1 223947058 223947059 CC TT CAPN2 nonframeshift substitution Validation Negative METMCC_603 2 28635158 CC TT FOSL2 nonframeshift substitution 97020022 CC TT NCAPH NCAPH:NM_001281 712:exon8:c.695_69 6TT,NCAPH:NM_00 1281710:exon9:c.10 nonframeshift 70_1071TT,NCAPH: substitution NM_001281711:exo n9:c.1031_1032TT,N CAPH:NM_015341:e xon9:c.1103_1104TT Validation Negative METMCC_603 Validation Negative METMCC_603 2 28635157 97020021 2 102626108 102626109 CC TT IL1R2 2 116548736 116548737 CC TT DPP10 nonframeshift substitution Validation Negative METMCC_603 2 223168785 223168786 GG AA CCDC140 nonframeshift substitution Validation Negative METMCC_603 3 5025008 5025009 CC TT BHLHE40 nonframeshift substitution Validation Negative METMCC_603 4 5853186 5853187 GG AC CRMP1 nonframeshift substitution Validation Negative METMCC_603 5 140475038 140475039 CC TT PCDHB2 nonframeshift substitution Validation Negative METMCC_603 5 140594466 140594467 GG AA PCDHB13 nonframeshift substitution Validation Negative METMCC_603 5 171766461 171766462 GG AA Validation Negative METMCC_603 6 31525549 31525550 CC TT NFKBIL1 nonframeshift substitution Validation Negative METMCC_603 6 44197192 44197193 TC GT SLC29A1 nonframeshift substitution Validation Negative METMCC_603 7 32535405 32535406 GG AA AVL9 nonframeshift substitution Validation Negative METMCC_603 7 100609817 100609818 GG AA MUC3A nonframeshift substitution Validation Negative METMCC_603 8 nonframeshift substitution Validation Negative METMCC_603 8 143563035 143563036 GG AA BAI1 nonframeshift substitution Validation Negative METMCC_603 9 nonframeshift substitution 16437424 SH3PXD2 nonframeshift B substitution 77768325 GG AA ZFHX4 16437425 GG AA BNC2 NA NA 23 0 0% 222 12 5.13% NA NA NA 12 0 0% 281 19 6.33% NA NA NA 26 0 0% 365 46 11.19% NA NA NA 13 0 0% 474 52 9.89% ID=COSM1 43405;OC CURENCE NA =1(upper_ aerodigesti ve_tract) NA 23 0 0% 236 26 9.92% NA NA 14 0 0% 313 33 9.54% NA NA NA 62 0 0% 118 11 8.53% NA NA NA 20 0 0% 286 22 7.14% NA NA NA 10 0 0% 318 27 7.83% NA NA NA 24 0 0% 199 18 8.29% NA NA NA 29 0 0% 201 16 7.37% NA NA NA 31 0 0% 380 27 6.63% NA NA NA 17 0 0% 472 65 12.10% NA NA NA 22 0 0% 294 23 NA NA NA 15 0 0% 409 47 10.31% NA NA NA 14 0 0% 245 22 8.24% NA NA NA 15 0 0% 661 36 5.16% NA NA NA 34 0 0% 326 74 18.50% NA NA NA 18 0 0% 301 54 15.21% NA NA NA 37 0 0% 80 11 12.09% IL1R2:NM_00126141 nonframeshift 9:exon3:c.152_153T NA substitution T,IL1R2:NM_004633 :exon3:c.152_153TT Validation Negative METMCC_603 77768324 NA DPP10:NM_0010043 60:exon18:c.1590_1 591TT,DPP10:NM_0 01178034:exon18:c. 1623_1624TT,DPP1 0:NM_001178037:ex on18:c.1599_1600T T,DPP10:NM_02086 8:exon18:c.1611_16 12TT,DPP10:NM_00 1178036:exon19:c.1 461_1462TT CCDC140:NM_1530 38:exon2:c.164_165 AA BHLHE40:NM_0036 70:exon5:c.870_871 TT CRMP1:NM_001014 809:exon5:c.830_83 1GT,CRMP1:NM_00 1288661:exon5:c.48 2_483GT,CRMP1:N M_001288662:exon5 :c.470_471GT,CRM P1:NM_001313:exon 5:c.488_489GT PCDHB2:NM_01893 6:exon1:c.664_665T T PCDHB13:NM_0189 33:exon1:c.771_772 AA SH3PXD2B:NM_001 017995:exon13:c.16 47_1648TT NFKBIL1:NM_00114 4961:exon3:c.479_4 80TT,NFKBIL1:NM_ 001144962:exon3:c. 410_411TT,NFKBIL1 :NM_001144963:exo n3:c.410_411TT,NF KBIL1:NM_005007:e xon3:c.479_480TT SLC29A1:NM_00107 8174:exon3:c.95_96 GT,SLC29A1:NM_00 1078176:exon3:c.95 _96GT,SLC29A1:NM _004955:exon3:c.95 _96GT,SLC29A1:NM _001078175:exon4:c .95_96GT,SLC29A1: NM_001078177:exo n4:c.95_96GT AVL9:NM_015060:ex on1:c.84_85AA MUC3A:NM_005960: exon10:c.4287_4288 AA ZFHX4:NM_024721: exon10:c.9167_9168 AA BAI1:NM_001702:ex on10:c.2093_2094A A BNC2:NM_017637:e xon6:c.767_768TT 7.26% 35561040 35561041 CC TT RUSC2 nonframeshift substitution Validation Negative METMCC_603 9 Validation Negative METMCC_603 9 132400639 132400640 GG AA ASB6 nonframeshift substitution Validation Negative METMCC_603 9 139353984 139353985 CC TT SEC16A nonframeshift substitution RUSC2:NM_001135 999:exon11:c.4295_ 4296TT,RUSC2:NM_ 014806:exon11:c.42 95_4296TT ASB6:NM_00120240 3:exon5:c.608_609T T,ASB6:NM_177999: exon5:c.586_587TT, ASB6:NM_017873:e xon6:c.695_696TT SEC16A:NM_00127 6418:exon15:c.5214 _5215AA,SEC16A:N M_014866:exon16:c. 5214_5215AA ADARB2:NM_01870 2:exon9:c.1895_189 6AA C10orf71:NM_00113 5196:exon3:c.144_1 45TT DKK1:NM_012242:e xon1:c.193_194AA SLC18A2:NM_00305 4:exon15:c.1369_13 70AA C10orf88:NM_02494 2:exon2:c.222_223T T NAP1L4:NM_005969 :exon14:c.1117_111 8TT OR10Q1:NM_00100 4471:exon1:c.272_2 73AC UQCC3:NM_001085 372:exon1:c.87_88T T ABCG4:NM_001142 505:exon10:c.1155_ 1156TT,ABCG4:NM _022169:exon10:c.1 155_1156TT NA NA NA 13 0 0% 372 40 9.71% NA NA NA 14 0 0% 482 50 9.40% NA NA NA 15 0 0% 176 21 10.66% NA NA NA 14 0 0% 178 30 14.42% NA NA NA 18 0 0% 329 19 NA NA NA 11 0 0% 298 46 13.37% NA NA NA 56 0 0% 125 16 11.35% NA NA NA 41 0 0% 158 17 9.71% NA NA NA 54 0 0% 206 18 8.04% NA NA NA 13 0 0% 222 29 11.55% NA NA NA 12 0 0% 479 64 11.79% Validation Negative METMCC_603 10 1230948 1230949 CC TT ADARB2 nonframeshift substitution Validation Negative METMCC_603 10 50530734 50530735 CC TT C10orf71 nonframeshift substitution Validation Negative METMCC_603 10 54074387 54074388 GG AA DKK1 nonframeshift substitution Validation Negative METMCC_603 10 119029903 119029904 GG AA SLC18A2 nonframeshift substitution Validation Negative METMCC_603 10 124712490 124712491 GG AA C10orf88 nonframeshift substitution Validation Negative METMCC_603 11 2972493 2972494 GG AA NAP1L4 nonframeshift substitution Validation Negative METMCC_603 11 57996075 57996076 CC GT OR10Q1 nonframeshift substitution Validation Negative METMCC_603 11 62439304 62439305 CC TT UQCC3 nonframeshift substitution Validation Negative METMCC_603 11 119029030 119029031 CC TT ABCG4 nonframeshift substitution NA NA NA 10 0 0% 355 31 8.03% Validation Negative METMCC_603 12 53070081 53070082 GG AA KRT1 nonframeshift KRT1:NM_006121:e NA substitution xon7:c.1452_1453TT NA NA 16 0 0% 190 20 9.52% Validation Negative METMCC_603 13 33634925 33634926 CC TT KL NA NA 29 0 0% 180 18 9.09% Validation Negative METMCC_603 13 84454060 84454061 CC TT SLITRK1 NA NA 19 0 0% 220 24 9.84% Validation Negative METMCC_603 15 24923461 24923462 CC TT NPAP1 NA NA 29 0 0% 233 23 8.98% Validation Negative METMCC_603 15 42158423 42158424 CC TT SPTBN5 NA NA 11 0 0% 513 64 11.09% Validation Negative METMCC_603 15 63632556 63632557 GG AA CA12 NA NA 13 0 0% 279 30 9.71% Validation Negative METMCC_603 15 73045101 73045102 GG AA ADPGK NA NA 20 0 0% 276 25 8.31% NA NA 12 0 0% 361 34 8.61% NA NA 15 0 0% 170 15 8.11% NA NA 14 0 0% 286 27 8.63% NA NA 11 0 0% 465 52 10.06% Validation Negative METMCC_603 16 22334202 22334203 CC TT POLR3E Validation Negative METMCC_603 16 31121540 31121541 GG AA BCKDK Validation Negative METMCC_603 16 51173892 51173893 CC TT SALL1 Validation Negative METMCC_603 17 7753248 7753249 CC TT KDM6B nonframeshift KL:NM_004795:exon NA substitution 4:c.1709_1710TT SLITRK1:NM_05291 0:exon1:c.1582_158 nonframeshift 3AA,SLITRK1:NM_0 NA substitution 01281503:exon2:c.1 582_1583AA NPAP1:NM_018958: nonframeshift exon1:c.2447_2448T NA substitution T SPTBN5:NM_01664 nonframeshift 2:exon38:c.6634_66 NA substitution 35AA CA12:NM_00129364 2:exon6:c.497_498T nonframeshift T,CA12:NM_001218: NA substitution exon7:c.677_678TT, CA12:NM_206925:e xon7:c.677_678TT ADPGK:NM_031284: nonframeshift exon7:c.1071_1072T NA substitution T POLR3E:NM_00125 8034:exon13:c.910_ 911TT,POLR3E:NM _001258035:exon13: c.910_911TT,POLR3 nonframeshift E:NM_001258033:ex NA substitution on14:c.1018_1019T T,POLR3E:NM_0012 58036:exon14:c.101 8_1019TT,POLR3E: NM_018119:exon14: c.1018_1019TT BCKDK:NM_001122 957:exon6:c.438_43 9AA,BCKDK:NM_00 nonframeshift 1271926:exon6:c.43 NA substitution 8_439AA,BCKDK:N M_005881:exon6:c.4 38_439AA SALL1:NM_0011278 92:exon2:c.1949_19 nonframeshift 50AA,SALL1:NM_00 NA substitution 2968:exon2:c.2240_ 2241AA KDM6B:NM_001080 nonframeshift 424:exon12:c.3550_ NA substitution 3551TT 5.46% Validation Negative METMCC_603 17 8396216 8396217 AC TT MYH10 nonframeshift substitution Validation Negative METMCC_603 17 18023348 18023349 CC TT MYO15A nonframeshift substitution Validation Negative METMCC_603 17 38557183 38557184 GG AA TOP2A nonframeshift substitution Validation Negative METMCC_603 17 73951993 73951994 GG AA ACOX1 nonframeshift substitution Validation Negative METMCC_603 17 74625138 74625139 CC TT Validation Negative METMCC_603 19 10249224 10249225 GG AA DNMT1 nonframeshift substitution Validation Negative METMCC_603 19 10934545 10934546 CC TT DNM2 nonframeshift substitution Validation Negative METMCC_603 19 14705448 14705449 GG AA CLEC17A nonframeshift substitution Validation Negative METMCC_603 19 17387414 17387415 CC TT BABAM1 nonframeshift substitution Validation Negative METMCC_603 19 19655079 19655080 GG AA CILP2 nonframeshift substitution Validation Negative METMCC_603 19 36435509 36435510 AC CT LRFN3 nonframeshift substitution Validation Negative METMCC_603 19 38383627 38383628 GG AA WDR87 nonframeshift substitution Validation Negative METMCC_603 19 38709656 38709657 CC TT DPF1 nonframeshift substitution Validation Negative METMCC_603 19 41916884 41916885 GG AA BCKDHA nonframeshift substitution Validation Negative METMCC_603 19 49398653 49398654 GC TT TULP2 nonframeshift substitution Validation Negative METMCC_603 20 1161498 1161499 CC TT Validation Negative METMCC_603 20 3127477 3127478 GT AA FASTKD5 Validation Negative METMCC_603 X 54783740 Validation Negative METMCC_603 X Validation Negative METMCC_603 ST6GALN nonframeshift AC1 substitution TMEM74 B 54783741 GG AA ITIH6 118223556 118223557 CC TT KIAA1210 2 27853899 27853899 C T GPN1 nonframeshift substitution nonframeshift substitution nonframeshift substitution nonframeshift substitution MYH10:NM_005964: exon31:c.4242_4243 AA,MYH10:NM_001 256095:exon32:c.42 69_4270AA,MYH10: NM_001256012:exo n33:c.4335_4336AA MYO15A:NM_01623 9:exon2:c.1234_123 5TT TOP2A:NM_001067: exon21:c.2582_2583 TT ACOX1:NM_001185 039:exon5:c.459_46 0TT,ACOX1:NM_004 035:exon5:c.573_57 4TT,ACOX1:NM_007 292:exon5:c.573_57 4TT ST6GALNAC1:NM_0 18414:exon2:c.786_ 787AA,ST6GALNAC 1:NM_001289107:ex on3:c.390_391AA DNMT1:NM_001379: exon34:c.3957_3958 TT,DNMT1:NM_001 130823:exon35:c.40 05_4006TT DNM2:NM_0010053 62:exon16:c.1851_1 852TT,DNM2:NM_00 4945:exon16:c.1851 _1852TT,DNM2:NM_ 001005360:exon17:c .1863_1864TT,DNM 2:NM_001005361:ex on17:c.1863_1864T T,DNM2:NM_001190 716:exon17:c.1863_ 1864TT CLEC17A:NM_0012 04118:exon6:c.315_ 316AA,CLEC17A:N M_207390:exon6:c.3 15_316AA BABAM1:NM_00128 8757:exon4:c.455_4 56TT,BABAM1:NM_ 001033549:exon7:c. 680_681TT,BABAM1 :NM_001288756:exo n7:c.680_681TT,BA BAM1:NM_014173:e xon7:c.680_681TT CILP2:NM_153221:e xon8:c.1725_1726A A LRFN3:NM_024509: exon3:c.1475_1476 CT WDR87:NM_001291 088:exon4:c.2715_2 716TT,WDR87:NM_ 031951:exon4:c.259 8_2599TT DPF1:NM_00113515 5:exon4:c.421_422A A,DPF1:NM_001135 156:exon4:c.175_17 6AA,DPF1:NM_0012 89978:exon4:c.421_ 422AA,DPF1:NM_00 4647:exon4:c.421_4 22AA BCKDHA:NM_00070 9:exon3:c.345_346A A,BCKDHA:NM_001 164783:exon3:c.345 _346AA TULP2:NM_003323: exon5:c.318_319AA TMEM74B:NM_0183 54:exon2:c.764_765 AA FASTKD5:NM_0218 26:exon2:c.2239_22 40TT ITIH6:NM_198510:ex on8:c.2766_2767TT KIAA1210:NM_0207 21:exon11:c.1636_1 637AA GPN1:NM_007266:e xon3:c.C253T:p.R85 nonsynonymo C,GPN1:NM_001145 us SNV 047:exon4:c.C175T: p.R59C NA NA NA 17 0 0% 236 41 14.80% NA NA NA 17 0 0% 640 91 12.45% NA NA NA 75 0 0% 147 12 NA NA NA 31 0 0% 143 27 15.88% NA NA NA 19 0 0% 202 19 NA NA NA 12 0 0% 267 42 13.59% NA NA NA 12 0 0% 245 37 13.12% NA NA NA 15 0 0% 346 14 NA NA NA 11 0 0% 285 33 10.38% NA NA NA 10 0 0% 550 60 NA NA NA 13 0 0% 401 51 11.28% NA NA NA 33 0 0% 185 16 7.96% NA NA NA 12 0 0% 471 47 9.07% NA NA NA 16 0 0% 243 15 5.81% NA NA NA 10 0 0% 168 21 11.11% NA NA NA 13 0 0% 304 22 6.75% NA NA NA 38 0 0% 222 18 7.50% NA NA NA 33 0 0% 158 10 5.95% NA NA NA 38 0 0% 153 15 8.93% ID=COSM1 019846,CO SM101984 7;OCCUR NA ENCE=1(e ndometriu m) NA 41 0 0% 57 7.55% 8.60% 3.89% 9.84% 10 14.93% Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 6 130497126 130497126 G 13 9 16 20 7 15 58298953 21971096 1604947 32332983 73470750 64495288 58298953 G 21971096 C 1604947 C 32332983 C 73470750 G 64495288 C 8 104427664 104427664 G 15 19 40675107 51958759 40675107 C 51958759 C 5 140515737 140515737 G SAMD3 SAMD3:NM_001277 185:exon7:c.C754T: p.R252C,SAMD3:NM nonsynonymo _001017373:exon8:c us SNV .C682T:p.R228C,SA MD3:NM_001258275 :exon10:c.C682T:p.R 228C ID=COSM1 073194;OC CURENCE =1(endome NA trium),1(ski n),1(upper _aerodiges tive_tract) rs201988 282 96 0 0% 94 PCDH17 ID=COSM1 PCDH17:NM_00104 nonsynonymo 10413;OC 0429:exon4:c.G3005 NA us SNV CURENCE A:p.G1002E =1(skin) rs143826 792 37 0 0% 178 11 T CDKN2A CDKN2A:NM_00007 7:exon2:c.G262A:p. E88K,CDKN2A:NM_ nonsynonymo 001195132:exon2:c. us SNV G262A:p.E88K,CDK N2A:NM_058195:ex on2:c.G305A:p.G102 E ID=COSM1 167920,CO SM173957 5,COSM11 67919,CO SM12550; OCCUREN CE=2(skin) NA ,1(upper_a erodigestiv e_tract),1( haematopo ietic_and_l ymphoid_ti ssue),1(me ninges) NA 14 0 0% 204 53 20.62% T TMEM204:NM_0246 00:exon3:c.C601T:p. nonsynonymo TMEM204 R201W,TMEM204:N us SNV M_001256541:exon4 :c.C601T:p.R201W ID=COSM1 29778;OC CURENCE NA =1(upper_ aerodigesti ve_tract) NA 15 0 0% 432 46 9.62% T ZNF341 ZNF341:NM_001282 933:exon3:c.C217T: nonsynonymo p.R73W,ZNF341:NM us SNV _032819:exon3:c.C2 17T:p.R73W ID=COSM1 326802;OC NA CURENCE =1(ovary) NA 20 0 0% 415 28 6.32% A ELN ELN:NM_001081752 :exon19:c.G1270A:p. G424R,ELN:NM_001 278914:exon19:c.G1 285A:p.G429R,ELN: NM_001278916:exo n19:c.G1258A:p.G42 0R,ELN:NM_001278 917:exon19:c.G1270 A:p.G424R,ELN:NM _000501:exon20:c.G 1300A:p.G434R,ELN :NM_001081753:exo nonsynonymo n20:c.G1315A:p.G43 us SNV 9R,ELN:NM_001081 754:exon20:c.G1315 A:p.G439R,ELN:NM _001081755:exon20: c.G1300A:p.G434R, ELN:NM_001278912 :exon20:c.G1300A:p. G434R,ELN:NM_001 278915:exon20:c.G1 300A:p.G434R,ELN: NM_001278939:exo n20:c.G1300A:p.G43 4R ID=COSM1 34212;OC NA CURENCE =1(skin) NA 14 0 0% 110 14 11.29% T ID=COSM1 374026,CO CSNK1G1:NM_0220 SM137402 nonsynonymo CSNK1G1 48:exon10:c.G1100A 7;OCCUR NA us SNV :p.R367Q ENCE=1(la rge_intesti ne) NA 39 0 0% 96 10 9.43% A DCAF13 ID=COSM1 DCAF13:NM_01542 nonsynonymo 37502;OC 0:exon1:c.G446A:p. NA us SNV CURENCE R149K =2(skin) NA 18 0 0% 168 13 7.18% T KNSTRN:NM_00114 2761:exon1:c.C71T: p.S24F,KNSTRN:NM nonsynonymo KNSTRN _001142762:exon1:c us SNV .C71T:p.S24F,KNST RN:NM_033286:exo n1:c.C71T:p.S24F ID=COSM1 40056;OC NA CURENCE =1(skin) NA 13 0 0% 276 28 9.21% T ID=COSM1 SIGLEC8:NM_01444 nonsynonymo 40228;OC SIGLEC8 2:exon4:c.G964A:p. NA us SNV CURENCE D322N =1(skin) NA 14 0 0% 193 19 8.96% A ID=COSM1 PCDHB5:NM_01566 434203;OC nonsynonymo 9:exon1:c.G721A:p. CURENCE NA us SNV E241K =1(large_in testine) NA 24 0 0% 254 37 12.71% A A PCDHB5 12 11.32% 5.82% Validation Negative METMCC_603 Validation Negative METMCC_603 11 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 72308662 C 8 107695484 107695484 G Validation Negative METMCC_603 X Validation Negative METMCC_603 72308662 124454812 124454812 G 1 156811496 156811496 G 1 223177816 223177816 C 3 9 16 11301931 33989030 3254944 11301931 C 33989030 G 3254944 G 5 140348705 140348705 G 19 1 17 19 54760520 21586805 47119704 9088388 54760520 C 21586805 C 47119704 C 9088388 G 5 140558697 140558697 C PDE2A PDE2A:NM_001143 839:exon4:c.G304A: p.E102K,PDE2A:NM _001243784:exon5:c nonsynonymo .G262A:p.E88K,PDE us SNV 2A:NM_002599:exon 5:c.G325A:p.E109K, PDE2A:NM_001146 209:exon6:c.G298A: p.E100K ID=COSM1 585984,CO SM931717; NA OCCUREN CE=1(endo metrium) NA A OXR1 OXR1:NM_181354:e xon3:c.G340A:p.E11 4K,OXR1:NM_00119 8532:exon4:c.G364A nonsynonymo :p.E122K,OXR1:NM_ us SNV 001198533:exon5:c. G361A:p.E121K,OX R1:NM_018002:exon 5:c.G361A:p.E121K ID=COSM1 597269,CO SM109471 7,COSM10 94716;OC NA CURENCE =4(endome trium),1(lar ge_intestin e) rs140427 774 A ID=COSM1 LOC100129520:NM_ LOC1001 nonsynonymo 636370;OC 001195272:exon1:c. NA 29520 us SNV CURENCE G844A:p.E282K =1(liver) A T 18 0 0% 387 76 16.41% 115 0 0% 125 15 10.71% NA 16 0 0% 226 29 11.37% INSRR ID=COSM1 688774,CO INSRR:NM_014215: nonsynonymo SM168877 exon20:c.C3488T:p. NA us SNV 5;OCCUR S1163F ENCE=1(s kin) NA 17 0 0% 481 91 15.91% DISP1 ID=COSM1 DISP1:NM_032890:e nonsynonymo 689891;OC xon10:c.C3077T:p.S NA us SNV CURENCE 1026F =1(skin) NA 26 0 0% 186 15 7.46% HRH1 HRH1:NM_0010982 11:exon2:c.C1208T: p.S403F,HRH1:NM_ 001098212:exon2:c. nonsynonymo C1208T:p.S403F,HR us SNV H1:NM_001098213:e xon2:c.C1208T:p.S4 03F,HRH1:NM_0008 61:exon3:c.C1208T: p.S403F ID=COSM1 692392;OC NA CURENCE =1(skin) NA 29 0 0% 139 13 8.55% UBAP2 ID=COSM1 UBAP2:NM_018449: nonsynonymo 701053;OC exon5:c.C383T:p.S1 NA us SNV CURENCE 28L =1(skin) NA 38 0 0% 134 20 12.99% A OR1F1 ID=COSM1 OR1F1:NM_012360: nonsynonymo 708658;OC exon1:c.G698A:p.G2 NA us SNV CURENCE 33E =1(skin) NA 23 0 0% 341 27 7.34% A PCDHAC2:NM_0188 99:exon1:c.G2354A: PCDHAC nonsynonymo p.G785D,PCDHAC2: 2 us SNV NM_031883:exon1:c .G2354A:p.G785D ID=COSM1 722460;OC NA CURENCE =2(NS) NA 25 0 0% 193 19 8.96% ID=COSM1 751142,CO SM175114 NA 3;OCCUR ENCE=2(ur inary_tract) NA 12 0 0% 441 25 5.36% ID=COSM1 83014;OC CURENCE NA =1(large_in testine) NA 10 0 0% 398 30 7.01% ID=COSM1 89016;OC CURENCE NA =1(large_in testine) NA 12 0 0% 214 29 11.93% MUC16 ID=COSM2 MUC16:NM_024690: 25768,CO nonsynonymo exon1:c.C3427T:p.P SM225769; NA us SNV 1143S OCCUREN CE=1(NS) NA 26 0 0% 154 14 8.33% PCDHB8 ID=COSM2 PCDHB8:NM_01912 67129;OC nonsynonymo 0:exon1:c.C1082T:p. CURENCE NA us SNV =1(large_in A361V testine) NA 80 0 0% 430 21 4.66% T T A T LILRB5 LILRB5:NM_001081 442:exon3:c.G187A: p.E63K,LILRB5:NM_ nonsynonymo 001081443:exon3:c. us SNV G187A:p.E63K,LILR B5:NM_006840:exon 3:c.G187A:p.E63K ECE1:NM_00111334 7:exon3:c.G538A:p. E180K,ECE1:NM_00 1113349:exon4:c.G5 nonsynonymo 65A:p.E189K,ECE1: us SNV NM_001113348:exo n5:c.G526A:p.E176K ,ECE1:NM_001397:e xon5:c.G574A:p.E19 2K T ECE1 T IGF2BP1:NM_00116 0423:exon7:c.C625T nonsynonymo IGF2BP1 :p.R209W,IGF2BP1: us SNV NM_006546:exon9:c .C1042T:p.R348W A T Validation Negative METMCC_603 11 Validation Negative METMCC_603 X Validation Negative METMCC_603 Validation Negative METMCC_603 19246336 19246336 G 153133495 153133495 C 10 18280180 18280180 G 8 135613761 135613761 C A T A T E2F8 nonsynonymo us SNV L1CAM nonsynonymo us SNV SLC39A1 nonsynonymo 2 us SNV ZFAT Validation Negative METMCC_603 17 42334875 42334875 C T SLC4A1 Validation Negative METMCC_603 20 62842630 62842630 G A MYT1 Validation Negative METMCC_603 19 55698964 55698964 G A PTPRH Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 17 11 9 7 11790241 20129252 35674204 6472552 11790241 G 20129252 C 35674204 T 6472552 G A T C A nonsynonymo us SNV E2F8:NM_00125637 1:exon13:c.C2473T: p.R825C,E2F8:NM_ 001256372:exon13:c .C2473T:p.R825C,E 2F8:NM_024680:exo n13:c.C2473T:p.R82 5C L1CAM:NM_001143 963:exon13:c.G1771 A:p.E591K,L1CAM:N M_000425:exon14:c. G1786A:p.E596K,L1 CAM:NM_024003:ex on14:c.G1786A:p.E5 96K,L1CAM:NM_001 278116:exon15:c.G1 786A:p.E596K SLC39A12:NM_0012 82734:exon7:c.G968 A:p.G323E,SLC39A1 2:NM_001145195:ex on8:c.G1370A:p.G45 7E,SLC39A12:NM_0 01282733:exon8:c.G 1370A:p.G457E,SLC 39A12:NM_152725:e xon8:c.G1370A:p.G4 57E ZFAT:NM_00117415 7:exon5:c.G2015A:p. R672Q,ZFAT:NM_00 1167583:exon6:c.G2 165A:p.R722Q,ZFAT :NM_001174158:exo n6:c.G2165A:p.R722 Q,ZFAT:NM_020863 :exon6:c.G2201A:p. R734Q,ZFAT:NM_00 1029939:exon7:c.G2 165A:p.R722Q,ZFAT :NM_001289394:exo n7:c.G2165A:p.R722 Q ID=COSM2 94340;OC CURENCE NA =1(large_in testine) NA 42 0 0% 110 12 9.84% ID=COSM3 236236;OC NA CURENCE =1(lung) rs137940 405 11 0 0% 536 47 8.06% ID=COSM3 358701,CO SM335870 NA 0;OCCUR ENCE=1(ki dney) NA 49 0 0% 67 11 14.10% ID=COSM3 367214,CO SM336721 NA 3;OCCUR ENCE=1(ki dney) NA 10 0 0% 42 14 25% NA 23 0 0% 436 27 5.83% NA 15 0 0% 301 22 6.81% NA 14 0 0% 293 25 7.86% 10 9.52% ID=COSM3 SLC4A1:NM_000342 387932;OC nonsynonymo :exon13:c.G1469A:p. CURENCE NA us SNV R490H =1(pancrea s) ID=COSM3 389932,CO SM338993 MYT1:NM_004535:e nonsynonymo 0,COSM33 xon8:c.G1363A:p.G4 NA us SNV 89931;OC 55R CURENCE =1(pancrea s) ID=COSM3 PTPRH:NM_001161 404636;OC 440:exon12:c.C1949 nonsynonymo CURENCE T:p.S650F,PTPRH:N NA us SNV =1(central_ M_002842:exon14:c. nervous_sy C2483T:p.S828F stem) DNAH9 DNAH9:NM_004662: exon3:c.G7A:p.D3N, nonsynonymo DNAH9:NM_001372: us SNV exon57:c.G11071A:p .D3691N ID=COSM3 421291;OC CURENCE NA =1(large_in testine) rs138333 222 32 0 0% 95 NAV2 NAV2:NM_00111101 9:exon26:c.C4076T: p.S1359L,NAV2:NM _001111018:exon36: c.C6692T:p.S2231L, NAV2:NM_145117:e nonsynonymo xon36:c.C6884T:p.S us SNV 2295L,NAV2:NM_18 2964:exon36:c.C689 3T:p.S2298L,NAV2: NM_001244963:exo n38:c.C7061T:p.S23 54L ID=COSM3 446209;OC CURENCE NA =1(large_in testine) NA 12 0 0% 330 43 11.53% rs146966 274 17 0 0% 216 24 10% NA 11 0 0% 136 10 6.85% CA9 nonsynonymo CA9:NM_001216:ex us SNV on1:c.T248C:p.L83P DAGLB DAGLB:NM_001142 nonsynonymo 936:exon4:c.C458T: us SNV p.S153L ID=COSM3 763913;OC CURENCE =1(lung),1( NA thyroid),1(l arge_intest ine),1(kidn ey) ID=COSM3 778530;OC CURENCE NA =1(urinary_ tract) Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 8 104948915 104948915 C 5 140431512 140431512 C 5 140773464 140773464 C 19 11 57059206 62655998 57059206 C 62655998 G RIMS2 RIMS2:NM_0012828 81:exon10:c.C2029T :p.R677C,RIMS2:NM nonsynonymo _014677:exon10:c.C us SNV 1888T:p.R630C,RIM S2:NM_001100117:e xon13:c.C2512T:p.R 838C ID=COSM4 04099,CO SM159729 3,COSM15 97294,CO SM404100, NA COSM404 098;OCCU RENCE=1( lung),1(end ometrium) NA 64 0 0% 171 29 14.50% T PCDHB1 ID=COSM5 PCDHB1:NM_01334 89982;OC nonsynonymo 0:exon1:c.C457T:p.P CURENCE NA us SNV 153S =1(lung),2( skin) NA 18 0 0% 299 26 8% T PCDHGA8:NM_0140 04:exon1:c.C1084T: PCDHGA nonsynonymo p.P362S,PCDHGA8: 8 us SNV NM_032088:exon1:c .C1084T:p.P362S ID=COSM5 90117;OC NA CURENCE =1(lung) NA 49 0 0% 245 17 6.49% ZFP28 ID=COSM7 ZFP28:NM_020828: nonsynonymo 14400;OC exon4:c.C458T:p.S1 NA us SNV CURENCE 53F =1(lung) NA 32 0 0% 154 15 8.88% SLC3A2 SLC3A2:NM_001013 251:exon9:c.G1423A :p.A475T,SLC3A2:N M_001012664:exon1 nonsynonymo 0:c.G1540A:p.A514T us SNV ,SLC3A2:NM_00101 2662:exon12:c.G172 9A:p.A577T,SLC3A2 :NM_002394:exon12 :c.G1726A:p.A576T ID=COSM9 29859;OC CURENCE NA =1(endome trium) NA 13 0 0% 439 91 17.17% NA NA rs556755 85 10 0 0% 601 84 12.26% NA NA NA 11 0 0% 310 40 11.43% NA NA NA 11 0 0% 395 30 7.06% NA NA NA 20 0 0% 426 40 8.58% NA NA NA 13 0 0% 247 32 11.47% NA NA NA 17 0 0% 390 39 9.09% NA NA NA 18 0 0% 224 24 9.68% rs138203 471 15 0 0% 270 20 6.90% T T A Validation Negative METMCC_603 1 1635296 1635296 A C CDK11A nonsynonymo us SNV Validation Negative METMCC_603 1 1887175 1887175 C T CFAP74 nonsynonymo us SNV Validation Negative METMCC_603 1 2938305 2938305 G A ACTRT2 nonsynonymo us SNV Validation Negative METMCC_603 1 6202229 6202229 C T CHD5 nonsynonymo us SNV Validation Negative METMCC_603 1 6635237 6635237 C T TAS1R1 nonsynonymo us SNV Validation Negative METMCC_603 1 8385898 8385898 C T SLC45A1 nonsynonymo us SNV Validation Negative METMCC_603 1 11300479 11300479 C T MTOR nonsynonymo us SNV Validation Negative METMCC_603 1 11728866 11728866 A G FBXO6 nonsynonymo us SNV Validation Negative METMCC_603 1 16255287 16255287 C T SPEN nonsynonymo us SNV Validation Negative METMCC_603 1 16259063 16259063 G A SPEN nonsynonymo us SNV Validation Negative METMCC_603 1 21800034 21800034 C T NBPF3 Validation Negative METMCC_603 1 24201090 24201090 T A CNR2 Validation Negative METMCC_603 1 24387783 24387783 C A Validation Negative METMCC_603 1 37980301 37980301 C T Validation Negative METMCC_603 1 45155482 45155482 C T Validation Negative METMCC_603 1 46500999 46500999 G A Validation Negative METMCC_603 1 47078588 47078588 G A CDK11A:NM_02401 1:exon17:c.T1878G: p.N626K,CDK11A:N M_033529:exon17:c. T1848G:p.N616K CFAP74:NM_001080 484:exon18:c.G2131 A:p.E711K ACTRT2:NM_08043 1:exon1:c.G55A:p.G 19R CHD5:NM_015557:e xon15:c.G2395A:p.D 799N TAS1R1:NM_138697 :exon3:c.C1045T:p.P 349S SLC45A1:NM_00108 0397:exon4:c.C613T :p.L205F MTOR:NM_004958:e xon11:c.G1667A:p.G 556D FBXO6:NM_018438: exon2:c.A151G:p.M5 1V SPEN:NM_015001:e xon11:c.C2552T:p.P 851L SPEN:NM_015001:e xon11:c.G6328A:p.G 2110R NA 0.001997 NA NA NA 29 0 0% 220 23 9.47% NA NA NA 17 0 0% 270 24 8.16% NBPF3:NM_0012564 17:exon6:c.C686T:p. S229L,NBPF3:NM_0 nonsynonymo 01256416:exon7:c.C NA us SNV 896T:p.S299L,NBPF 3:NM_032264:exon7 :c.C896T:p.S299L NA NA 31 0 0% 152 12 7.32% NA NA NA 14 0 0% 186 12 6.06% NA NA NA 15 0 0% 156 16 9.30% NA NA NA 10 0 0% 343 54 13.60% NA NA NA 30 0 0% 224 17 7.05% NA NA NA 10 0 0% 280 24 7.89% NA NA NA 17 0 0% 262 35 11.78% CNR2:NM_001841:e nonsynonymo xon2:c.A1018T:p.T3 us SNV 40S MYOM3:NM_152372 nonsynonymo MYOM3 :exon34:c.G3951T:p. us SNV M1317I MEAF6:NM_001270 875:exon1:c.G47A:p. R16Q,MEAF6:NM_0 nonsynonymo MEAF6 01270876:exon1:c.G us SNV 47A:p.R16Q,MEAF6: NM_022756:exon1:c .G47A:p.R16Q C1orf228:NM_00114 nonsynonymo C1orf228 5636:exon2:c.C113T us SNV :p.T38I MAST2:NM_015112: nonsynonymo MAST2 exon29:c.G4658A:p. us SNV R1553K MOB3C:NM_145279 :exon2:c.C562T:p.P1 nonsynonymo MOB3C 88S,MOB3C:NM_20 us SNV 1403:exon2:c.C406T :p.P136S Validation Negative METMCC_603 1 54606840 54606840 C T Validation Negative METMCC_603 1 55076166 55076166 G C Validation Negative METMCC_603 1 60019859 60019859 G A Validation Negative METMCC_603 1 65146986 65146986 G A Validation Negative METMCC_603 1 89237398 89237398 C T Validation Negative METMCC_603 1 90048871 90048871 C T CDCP2:NM_201546: nonsynonymo exon3:c.G694A:p.E2 NA us SNV 32K FAM151A:NM_1767 nonsynonymo FAM151A 82:exon7:c.C1003G: NA us SNV p.P335A CDCP2 FGGY FGGY:NM_0012447 14:exon6:c.G599A:p. R200Q,FGGY:NM_0 nonsynonymo 01113411:exon8:c.G NA us SNV 863A:p.R288Q,FGG Y:NM_018291:exon8 :c.G863A:p.R288Q CACHD1:NM_00129 3274:exon24:c.G256 nonsynonymo 4A:p.R855K,CACHD CACHD1 NA us SNV 1:NM_020925:exon2 5:c.G3299A:p.R1100 K PKN2:NM_006256:e nonsynonymo PKN2 xon6:c.C821T:p.S27 NA us SNV 4L LRRC8B:NM_01535 0:exon5:c.C662T:p.P nonsynonymo LRRC8B 221L,LRRC8B:NM_0 NA us SNV 01134476:exon7:c.C 662T:p.P221L Validation Negative METMCC_603 1 110301230 110301230 C T EPS8L3 Validation Negative METMCC_603 1 145075775 145075775 G A PDE4DIP Validation Negative METMCC_603 1 145527986 145527986 C T Validation Negative METMCC_603 1 147084813 147084813 C T Validation Negative METMCC_603 1 149878420 149878420 G A Validation Negative METMCC_603 1 152187183 152187183 C A Validation Negative METMCC_603 1 152188920 152188920 C T Validation Negative METMCC_603 1 152277748 152277748 G A Validation Negative METMCC_603 1 152975945 152975945 C T Validation Negative METMCC_603 1 153974315 153974315 T G Validation Negative METMCC_603 1 154302877 154302877 G A Validation Negative METMCC_603 1 156498772 156498772 C T Validation Negative METMCC_603 1 156737697 156737697 C T EPS8L3:NM_024526 :exon7:c.G517A:p.E 173K,EPS8L3:NM_1 nonsynonymo 33181:exon7:c.G517 NA us SNV A:p.E173K,EPS8L3: NM_139053:exon7:c .G520A:p.E174K PDE4DIP:NM_02235 nonsynonymo 9:exon1:c.C88T:p.P3 us SNV 0S ITGA10:NM_003637: nonsynonymo ITGA10 exon3:c.C223T:p.R7 us SNV 5C BCL9:NM_004326:e nonsynonymo BCL9 xon5:c.C185T:p.S62 us SNV F SV2A:NM_00127871 nonsynonymo SV2A 9:exon1:c.C23T:p.P8 us SNV L HRNR:NM_0010099 nonsynonymo HRNR 31:exon3:c.G6922T: us SNV p.G2308C HRNR:NM_0010099 nonsynonymo HRNR 31:exon3:c.G5185A: us SNV p.G1729S FLG:NM_002016:ex nonsynonymo FLG on3:c.C9614T:p.S32 us SNV 05F SPRR3:NM_001097 589:exon2:c.C449T: nonsynonymo SPRR3 p.P150L,SPRR3:NM us SNV _005416:exon3:c.C4 49T:p.P150L NUP210L:NM_20730 nonsynonymo NUP210L 8:exon36:c.A5077C: us SNV p.I1693L ATP8B2:NM_001005 855:exon3:c.G37A:p. nonsynonymo ATP8B2 E13K,ATP8B2:NM_0 us SNV 20452:exon3:c.G136 A:p.E46K IQGAP3:NM_178229 nonsynonymo IQGAP3 :exon35:c.G4507A:p. us SNV E1503K PRCC:NM_005973:e nonsynonymo PRCC xon1:c.C134T:p.P45 us SNV L Validation Negative METMCC_603 1 158064638 158064638 C T KIRREL Validation Negative METMCC_603 1 158151971 158151971 A T CD1D Validation Negative METMCC_603 1 160786575 160786575 C T LY9 Validation Negative METMCC_603 1 161046164 161046164 G A PVRL4 Validation Negative METMCC_603 1 169526007 169526007 C T F5 Validation Negative METMCC_603 1 173703040 173703040 T C KLHL20 Validation Negative METMCC_603 1 181058588 181058588 G A IER5 NA NA NA 22 0 0% 349 39 10.05% NA rs114256 157 10 0 0% 224 10 NA NA 20 0 0% 82 13 13.68% NA NA 53 0 0% 79 12 13.19% NA NA 67 0 0% 104 12 10.34% NA NA 45 0 0% 188 16 NA NA 19 0 0% 277 39 12.34% NA rs761996 60 23 0 0% 790 95 10.73% 0.0002 NA 13 0 0% 185 13 6.57% NA 4.27% 7.84% NA NA NA 18 0 0% 146 12 7.59% NA NA NA 37 0 0% 297 25 7.76% NA NA rs121266 91 13 0 0% 161 25 13.44% NA NA rs618149 42 19 0 0% 121 43 26.22% NA NA NA 12 0 0% 158 14 NA NA NA 25 0 0% 149 22 12.87% NA NA NA 34 0 0% 122 11 8.27% NA NA NA 30 0 0% 274 27 8.97% NA NA NA 14 0 0% 261 31 10.62% NA NA NA 12 0 0% 210 49 18.92% KIRREL:NM_001286 349:exon13:c.C1702 nonsynonymo T:p.P568S,KIRREL: NA us SNV NM_018240:exon15: c.C2002T:p.P668S NA NA 15 0 0% 344 39 10.18% NA NA NA 13 0 0% 297 26 8.05% NA NA NA 25 0 0% 176 13 6.88% NA NA NA 10 0 0% 173 24 12.18% NA NA NA 23 0 0% 47 11 18.97% NA NA NA 20 0 0% 101 10 NA NA NA 10 0 0% 105 16 13.22% CD1D:NM_001766:e nonsynonymo xon4:c.A478T:p.N16 us SNV 0Y LY9:NM_001261456: exon5:c.C1264T:p.H nonsynonymo 422Y,LY9:NM_0023 us SNV 48:exon5:c.C1264T: p.H422Y PVRL4:NM_030916: nonsynonymo exon4:c.C832T:p.P2 us SNV 78S nonsynonymo F5:NM_000130:exon us SNV 6:c.G829A:p.E277K KLHL20:NM_014458 nonsynonymo :exon3:c.T212C:p.V7 us SNV 1A IER5:NM_016545:ex nonsynonymo on1:c.G550A:p.D184 us SNV N 8.14% 9.01% Validation Negative METMCC_603 1 183532660 183532660 C T NCF2 nonsynonymo us SNV Validation Negative METMCC_603 1 201177970 201177970 G A IGFN1 nonsynonymo us SNV Validation Negative METMCC_603 1 201789026 201789026 C T NAV1 nonsynonymo us SNV Validation Negative METMCC_603 1 204400858 204400858 C T PIK3C2B nonsynonymo us SNV Validation Negative METMCC_603 1 204937415 204937415 C T NFASC nonsynonymo us SNV Validation Negative METMCC_603 1 205156788 205156788 G A DSTYK nonsynonymo us SNV INTS7 Validation Negative METMCC_603 1 212115266 212115266 G A NCF2:NM_00119078 9:exon10:c.G844A:p. V282I,NCF2:NM_00 1190794:exon11:c.G 952A:p.V318I,NCF2: NM_000433:exon12: c.G1087A:p.V363I,N CF2:NM_001127651 :exon13:c.G1087A:p. V363I IGFN1:NM_0011645 86:exon12:c.G3949A :p.G1317R NAV1:NM_00116773 8:exon27:c.C4418T: p.T1473I,NAV1:NM_ 020443:exon30:c.C5 600T:p.T1867I PIK3C2B:NM_00264 6:exon29:c.G4219A: p.E1407K NFASC:NM_001160 331:exon7:c.C778T: p.P260S,NFASC:NM _001160333:exon8:c .C727T:p.P243S,NF ASC:NM_001005388 :exon9:c.C745T:p.P2 49S,NFASC:NM_001 005389:exon9:c.C74 5T:p.P249S,NFASC: NM_001160332:exo n9:c.C778T:p.P260S ,NFASC:NM_015090 :exon9:c.C778T:p.P2 60S DSTYK:NM_015375: exon2:c.C412T:p.P1 38S,DSTYK:NM_199 462:exon2:c.C412T: p.P138S NA 0.0002 NA 18 0 0% 144 12 7.69% NA NA NA 22 0 0% 227 19 7.72% NA NA NA 24 0 0% 266 28 9.52% NA NA NA 18 0 0% 184 22 10.68% NA NA NA 10 0 0% 393 60 13.25% NA NA NA 24 0 0% 179 27 13.11% INTS7:NM_0011998 09:exon19:c.C2642T :p.S881F,INTS7:NM _001199811:exon20: nonsynonymo c.C2747T:p.S916F,I NA us SNV NTS7:NM_00119981 2:exon20:c.C2729T: p.S910F,INTS7:NM_ 015434:exon20:c.C2 789T:p.S930F NA NA 30 0 0% 150 11 6.83% NA NA NA 15 0 0% 272 21 7.17% NA NA NA 28 0 0% 135 14 9.40% NA NA NA 11 0 0% 281 56 16.62% NA NA NA 49 0 0% 149 12 NA NA NA 33 0 0% 69 NA NA NA 15 0 0% 301 32 9.61% NA NA rs201259 305 19 0 0% 175 16 8.38% 8.11% PROX1:NM_001270 616:exon2:c.C1499T :p.P500L,PROX1:NM _002763:exon2:c.C1 499T:p.P500L RYR2:NM_001035:e xon37:c.G5353A:p.D 1785N FMN2:NM_020066:e xon1:c.G1342A:p.E4 48K FMN2:NM_020066:e xon5:c.C2092T:p.P6 98S RGS7:NM_0012827 73:exon5:c.C290T:p. A97V,RGS7:NM_001 282775:exon7:c.C44 9T:p.A150V,RGS7:N M_001282778:exon7 :c.C449T:p.A150V,R GS7:NM_002924:ex on7:c.C449T:p.A150 V KIF26B:NM_018012: exon8:c.A1687T:p.M 563L OR2C3:NM_198074: exon2:c.C503T:p.P1 68L TRIM58:NM_015431 :exon6:c.G1246A:p. D416N Validation Negative METMCC_603 1 214171377 214171377 C T PROX1 nonsynonymo us SNV Validation Negative METMCC_603 1 237777781 237777781 G A RYR2 nonsynonymo us SNV Validation Negative METMCC_603 1 240256751 240256751 G A FMN2 nonsynonymo us SNV Validation Negative METMCC_603 1 240370204 240370204 C T FMN2 nonsynonymo us SNV Validation Negative METMCC_603 1 241033356 241033356 G A RGS7 nonsynonymo us SNV Validation Negative METMCC_603 1 245772603 245772603 A T KIF26B nonsynonymo us SNV Validation Negative METMCC_603 1 247695311 247695311 G A OR2C3 nonsynonymo us SNV Validation Negative METMCC_603 1 248039576 248039576 G A TRIM58 nonsynonymo us SNV NA NA NA 20 0 0% 136 12 TPO TPO:NM_175721:ex on7:c.C998T:p.S333 F,TPO:NM_000547: exon8:c.C998T:p.S3 33F,TPO:NM_00120 nonsynonymo 6744:exon8:c.C998T NA us SNV :p.S333F,TPO:NM_0 01206745:exon8:c.C 998T:p.S333F,TPO: NM_175719:exon8:c .C998T:p.S333F NA NA 11 0 0% 465 62 11.76% Validation Negative METMCC_603 2 1481036 1481036 C T 7.45% 14 16.87% Validation Negative METMCC_603 2 1544416 1544416 G A TPO Validation Negative METMCC_603 2 7023550 7023550 G A RSAD2 Validation Negative METMCC_603 2 11735461 11735461 G T GREB1 Validation Negative METMCC_603 2 15307369 15307369 G A NBAS Validation Negative METMCC_603 2 25356253 25356253 G A EFR3B Validation Negative METMCC_603 2 27150157 27150157 G A DPYSL5 Validation Negative METMCC_603 2 27278054 27278054 C T AGBL5 Validation Negative METMCC_603 2 27306210 27306210 G A EMILIN1 Validation Negative METMCC_603 2 27459644 27459644 C T CAD Validation Negative METMCC_603 2 28820889 28820889 C T PLB1 Validation Negative METMCC_603 2 56420302 56420302 G A CCDC85A Validation Negative METMCC_603 2 62450337 62450337 C T B3GNT2 Validation Negative METMCC_603 2 84928305 84928305 C T DNAH6 Validation Negative METMCC_603 2 85051119 85051119 C T TRABD2A Validation Negative METMCC_603 2 85097453 85097453 C T TRABD2A Validation Negative METMCC_603 2 86255806 86255806 T C POLR1A Validation Negative METMCC_603 2 95542419 95542419 G A TEKT4 Validation Negative METMCC_603 2 101564800 101564800 C T NPAS2 Validation Negative METMCC_603 2 102849518 102849518 G A IL1RL2 Validation Negative METMCC_603 2 110107302 110107302 C T SH3RF3 Validation Negative METMCC_603 2 113940883 113940883 C T PSD4 Validation Negative METMCC_603 2 220286102 220286102 G T DES Validation Negative METMCC_603 2 230312211 230312211 G A DNER Validation Negative METMCC_603 2 230911037 230911037 C T SLC16A1 4 TPO:NM_175721:ex on14:c.G2537A:p.G8 46E,TPO:NM_17572 2:exon14:c.G2150A: p.G717E,TPO:NM_0 01206745:exon15:c. nonsynonymo G2498A:p.G833E,TP NA us SNV O:NM_175719:exon1 5:c.G2498A:p.G833 E,TPO:NM_000547: exon16:c.G2669A:p. G890E,TPO:NM_00 1206744:exon16:c.G 2669A:p.G890E RSAD2:NM_080657: nonsynonymo exon2:c.G395A:p.R1 us SNV 32Q GREB1:NM_014668: nonsynonymo exon12:c.G1781T:p. us SNV G594V NBAS:NM_015909:e nonsynonymo xon52:c.C6919T:p.P us SNV 2307S EFR3B:NM_014971: nonsynonymo exon12:c.G1261A:p. us SNV E421K DPYSL5:NM_00125 3723:exon4:c.G457A :p.G153S,DPYSL5:N nonsynonymo M_001253724:exon4 us SNV :c.G457A:p.G153S,D PYSL5:NM_020134: exon4:c.G457A:p.G1 53S AGBL5:NM_0010355 07:exon6:c.C841T:p. nonsynonymo R281C,AGBL5:NM_ us SNV 021831:exon6:c.C84 1T:p.R281C EMILIN1:NM_00704 nonsynonymo 6:exon4:c.G1771A:p. us SNV E591K CAD:NM_004341:ex nonsynonymo on27:c.C4342T:p.P1 us SNV 448S PLB1:NM_00117058 5:exon33:c.C2306T: nonsynonymo p.S769F,PLB1:NM_1 us SNV 53021:exon34:c.C23 39T:p.S780F CCDC85A:NM_0010 nonsynonymo 80433:exon2:c.G967 us SNV A:p.G323R B3GNT2:NM_00657 nonsynonymo 7:exon2:c.C982T:p.L us SNV 328F DNAH6:NM_001370: nonsynonymo exon49:c.C7903T:p. us SNV P2635S TRABD2A:NM_0010 80824:exon5:c.G114 nonsynonymo 5A:p.R382Q,TRABD us SNV 2A:NM_001277053:e xon6:c.G1292A:p.R4 31Q TRABD2A:NM_0010 80824:exon2:c.G565 nonsynonymo A:p.D189N,TRABD2 us SNV A:NM_001277053:ex on2:c.G565A:p.D189 N POLR1A:NM_01542 nonsynonymo 5:exon32:c.A4808G: us SNV p.N1603S TEKT4:NM_0012865 59:exon6:c.G667A:p. nonsynonymo A223T,TEKT4:NM_1 us SNV 44705:exon6:c.G121 3A:p.A405T NPAS2:NM_002518: nonsynonymo exon6:c.C467T:p.S1 us SNV 56F IL1RL2:NM_003854: nonsynonymo exon10:c.G1231A:p. us SNV E411K SH3RF3:NM_00109 nonsynonymo 9289:exon9:c.C2390 us SNV T:p.S797F PSD4:NM_012455:e nonsynonymo xon2:c.C850T:p.P28 us SNV 4S DES:NM_001927:ex nonsynonymo on6:c.G1064T:p.R35 us SNV 5L DNER:NM_139072:e nonsynonymo xon8:c.C1307T:p.S4 us SNV 36L SLC16A14:NM_1525 nonsynonymo 27:exon4:c.G805A:p. us SNV D269N NA NA NA 10 0 0% 187 38 16.89% 0.0002 NA 32 0 0% 116 13 10.08% NA NA NA 23 0 0% 183 10 5.18% NA NA NA 15 0 0% 254 25 8.96% NA NA NA 13 0 0% 370 32 7.96% NA NA NA 11 0 0% 271 23 7.82% NA NA NA 16 0 0% 230 30 11.54% NA NA NA 14 0 0% 417 51 10.90% NA NA NA 17 0 0% 382 39 NA NA NA 22 0 0% 204 24 10.53% NA NA NA 16 0 0% 426 33 7.19% NA NA NA 30 0 0% 290 24 7.64% NA NA NA 51 0 0% 93 10 9.71% NA NA NA 11 0 0% 96 18 15.79% NA NA NA 21 0 0% 291 24 7.62% NA NA NA 11 0 0% 273 24 8.08% rs756036 22 11 0 0% 377 19 4.80% 9.09% NA 0.011582 9.26% NA NA NA 63 0 0% 160 16 NA NA rs371113 814 29 0 0% 251 28 10.04% NA NA NA 14 0 0% 355 37 9.44% NA NA NA 15 0 0% 298 30 9.15% NA NA NA 15 0 0% 318 33 9.40% NA NA NA 30 0 0% 141 17 10.76% NA NA rs201868 521 14 0 0% 177 24 11.94% Validation Negative METMCC_603 Validation Negative METMCC_603 2 234750230 234750230 T 2 242122150 242122150 C C T HJURP HJURP:NM_001282 963:exon5:c.A941G: p.D314G,HJURP:NM nonsynonymo _001282962:exon6:c NA us SNV .A1034G:p.D345G,H JURP:NM_018410:e xon8:c.A1196G:p.D3 99G NA NA 45 0 0% 174 20 10.31% PPP1R7 PPP1R7:NM_00128 2409:exon9:c.C866T :p.P289L,PPP1R7:N M_001282413:exon9 nonsynonymo :c.C818T:p.P273L,P NA us SNV PP1R7:NM_0012824 12:exon10:c.C947T: p.P316L,PPP1R7:N M_002712:exon10:c. C995T:p.P332L NA NA 16 0 0% 369 45 10.87% NA NA NA 38 0 0% 205 21 NA NA NA 49 0 0% 100 15 13.04% NA NA NA 38 0 0% 229 19 NA NA NA 11 0 0% 275 41 12.97% UBE2E1:NM_00334 1:exon2:c.G97A:p.E 33K,UBE2E1:NM_18 2666:exon2:c.G97A: p.E33K FBXL2:NM_0011717 13:exon10:c.G602A: p.R201Q,FBXL2:NM _012157:exon11:c.G 806A:p.R269Q TRANK1:NM_01483 1:exon12:c.A3685G: p.T1229A EPM2AIP1:NM_0148 05:exon1:c.A191T:p. Y64F SCN5A:NM_000335: exon5:c.G610A:p.A2 04T,SCN5A:NM_001 099404:exon5:c.G61 0A:p.A204T,SCN5A: NM_001099405:exo n5:c.G610A:p.A204T ,SCN5A:NM_001160 160:exon5:c.G610A: p.A204T,SCN5A:NM _001160161:exon5:c .G610A:p.A204T,SC N5A:NM_198056:ex on5:c.G610A:p.A204 T Validation Negative METMCC_603 3 23848857 23848857 G A UBE2E1 nonsynonymo us SNV Validation Negative METMCC_603 3 33418782 33418782 G A FBXL2 nonsynonymo us SNV Validation Negative METMCC_603 3 36897396 36897396 T C TRANK1 nonsynonymo us SNV Validation Negative METMCC_603 3 37034378 37034378 T A EPM2AIP nonsynonymo 1 us SNV Validation Negative METMCC_603 3 38662335 38662335 C T SCN5A nonsynonymo us SNV NA NA NA 13 0 0% 335 29 7.97% TTC21A TTC21A:NM_001105 513:exon23:c.C3125 nonsynonymo A:p.A1042D,TTC21A NA us SNV :NM_145755:exon24 :c.C3269A:p.A1090D NA NA 10 0 0% 309 32 9.38% NA NA NA 30 0 0% 175 20 10.26% NA NA NA 20 0 0% 608 73 10.72% NA NA NA 12 0 0% 243 25 9.33% NA NA NA 11 0 0% 391 26 6.24% NA NA NA 13 0 0% 267 26 8.87% NA NA NA 13 0 0% 120 16 11.76% NA NA NA 21 0 0% 188 28 12.96% NA NA NA 14 0 0% 434 56 11.43% NA NA NA 99 0 0% 95 13 12.04% NA NA NA 47 0 0% 85 24 22.02% NA NA NA 37 0 0% 67 13 16.25% NA NA NA 12 0 0% 375 38 NA NA NA 11 0 0% 316 42 11.73% Validation Negative METMCC_603 3 39178542 39178542 C A Validation Negative METMCC_603 3 48929480 48929480 C A Validation Negative METMCC_603 3 49688267 49688267 C T Validation Negative METMCC_603 3 49750020 49750020 G T Validation Negative METMCC_603 3 52327095 52327095 G A Validation Negative METMCC_603 3 52366406 52366406 C T Validation Negative METMCC_603 3 52852173 52852173 C A Validation Negative METMCC_603 3 64085002 64085002 C T Validation Negative METMCC_603 3 96533723 96533723 G A Validation Negative METMCC_603 3 120973780 120973780 G T Validation Negative METMCC_603 3 121238852 121238852 G A Validation Negative METMCC_603 3 121973118 121973118 A C Validation Negative METMCC_603 3 126216963 126216963 C T Validation Negative METMCC_603 3 172165384 172165384 G T SLC25A20:NM_0003 SLC25A2 nonsynonymo 87:exon2:c.G131T:p. 0 us SNV S44I BSN:NM_003458:ex nonsynonymo BSN on4:c.C1741T:p.P58 us SNV 1S RNF123:NM_022064 nonsynonymo RNF123 :exon27:c.G2605T:p. us SNV V869L GLYCTK:NM_14526 nonsynonymo GLYCTK 2:exon5:c.G1525A:p. us SNV G509S DNAH1:NM_015512: nonsynonymo DNAH1 exon8:c.C1282T:p.P us SNV 428S ITIH4:NM_00116644 9:exon18:c.G2101T: nonsynonymo ITIH4 p.A701S,ITIH4:NM_0 us SNV 02218:exon20:c.G21 91T:p.A731S PRICKLE2:NM_1988 PRICKLE nonsynonymo 59:exon8:c.G2260A: 2 us SNV p.D754N EPHA6:NM_001080 448:exon1:c.G256A: nonsynonymo EPHA6 p.E86K,EPHA6:NM_ us SNV 001278301:exon1:c. G256A:p.E86K STXBP5L:NM_0149 nonsynonymo STXBP5L 80:exon16:c.G1480T us SNV :p.V494L POLQ:NM_199420:e nonsynonymo POLQ xon9:c.C1334T:p.T4 us SNV 45I CASR:NM_000388:e xon2:c.A82C:p.K28Q nonsynonymo CASR ,CASR:NM_0011780 us SNV 65:exon2:c.A82C:p.K 28Q UROC1:NM_144639: exon14:c.G1369A:p. nonsynonymo UROC1 D457N,UROC1:NM_ us SNV 001165974:exon15:c .G1549A:p.D517N GHSR:NM_004122:e nonsynonymo GHSR xon1:c.C820A:p.L27 us SNV 4I 9.29% 7.66% 9.20% Validation Negative METMCC_603 Validation Negative METMCC_603 3 184046705 184046705 C 3 184049314 184049314 C A T EIF4G1 EIF4G1:NM_004953: exon21:c.C3503A:p. T1168K,EIF4G1:NM _198242:exon24:c.C 3596A:p.T1199K,EIF 4G1:NM_198244:exo n25:c.C3827A:p.T12 76K,EIF4G1:NM_18 2917:exon27:c.C409 nonsynonymo 1A:p.T1364K,EIF4G NA us SNV 1:NM_001194947:ex on28:c.C4109A:p.T1 370K,EIF4G1:NM_0 01291157:exon28:c. C3968A:p.T1323K,EI F4G1:NM_198241:e xon28:c.C4088A:p.T 1363K,EIF4G1:NM_ 001194946:exon29:c .C4109A:p.T1370K NA NA 21 0 0% 302 24 7.36% EIF4G1 EIF4G1:NM_004953: exon23:c.C3730T:p. P1244S,EIF4G1:NM _198242:exon26:c.C 3823T:p.P1275S,EIF 4G1:NM_198244:exo n27:c.C4054T:p.P13 52S,EIF4G1:NM_18 2917:exon29:c.C431 nonsynonymo 8T:p.P1440S,EIF4G NA us SNV 1:NM_001194947:ex on30:c.C4336T:p.P1 446S,EIF4G1:NM_0 01291157:exon30:c. C4195T:p.P1399S,EI F4G1:NM_198241:e xon30:c.C4315T:p.P 1439S,EIF4G1:NM_ 001194946:exon31:c .C4336T:p.P1446S NA NA 10 0 0% 279 20 6.69% NA NA 21 0 0% 131 24 15.48% NA NA 15 0 0% 358 32 8.21% NA NA 14 0 0% 233 24 9.34% NA NA 14 0 0% 283 23 7.52% NA NA rs762792 4 21 0 0% 214 53 19.85% NA NA NA 13 0 0% 230 29 11.20% NA NA NA 58 0 0% 48 11 18.64% NA NA NA 25 0 0% 234 25 NA NA NA 17 0 0% 219 33 13.10% Validation Negative METMCC_603 3 189607174 189607174 G A TP63 Validation Negative METMCC_603 3 194062408 194062408 G A CPN2 Validation Negative METMCC_603 3 194325090 194325090 G A TMEM44 Validation Negative METMCC_603 3 194325116 194325116 G A TMEM44 TP63:NM_00111498 0:exon10:c.G1271A: p.G424E,TP63:NM_ 001114981:exon10:c nonsynonymo .G1271A:p.G424E,T NA us SNV P63:NM_001114978: exon12:c.G1553A:p. G518E,TP63:NM_00 3722:exon12:c.G155 3A:p.G518E CPN2:NM_00108051 3:exon2:c.C1024T:p. nonsynonymo L342F,CPN2:NM_00 NA us SNV 1291988:exon2:c.C1 024T:p.L342F TMEM44:NM_00101 1655:exon9:c.C1102 T:p.P368S,TMEM44: nonsynonymo NM_138399:exon9:c NA us SNV .C1102T:p.P368S,T MEM44:NM_001166 305:exon10:c.C1243 T:p.P415S TMEM44:NM_00101 1655:exon9:c.C1076 T:p.S359F,TMEM44: NM_001166306:exo nonsynonymo n9:c.C1072T:p.P358 NA us SNV S,TMEM44:NM_138 399:exon9:c.C1076T :p.S359F,TMEM44:N M_001166305:exon1 0:c.C1217T:p.S406F Validation Negative METMCC_603 3 195447886 195447886 G C MUC20 nonsynonymo us SNV Validation Negative METMCC_603 4 3417741 3417741 C T RGS12 nonsynonymo us SNV Validation Negative METMCC_603 4 39188211 39188211 A C WDR19 nonsynonymo us SNV Validation Negative METMCC_603 4 52861368 52861368 C A LRRC66 nonsynonymo us SNV Validation Negative METMCC_603 4 134072398 134072398 G C PCDH10 nonsynonymo us SNV MUC20:NM_001282 506:exon1:c.G8C:p. C3S,MUC20:NM_00 1291833:exon1:c.G8 C:p.C3S,MUC20:NM _020790:exon1:c.G8 C:p.C3S,MUC20:NM _152673:exon1:c.G8 C:p.C3S RGS12:NM_198227: exon5:c.C376T:p.L1 26F,RGS12:NM_002 926:exon7:c.C2320T :p.L774F,RGS12:NM _198229:exon7:c.C2 320T:p.L774F WDR19:NM_025132 :exon3:c.A151C:p.I5 1L LRRC66:NM_00102 4611:exon4:c.G1820 T:p.G607V PCDH10:NM_02081 5:exon1:c.G1103C:p. S368T,PCDH10:NM _032961:exon1:c.G1 103C:p.S368T 9.65% Validation Negative METMCC_603 4 170057617 170057617 G A Validation Negative METMCC_603 5 3600360 3600360 G A Validation Negative METMCC_603 5 5182175 5182175 G A Validation Negative METMCC_603 5 33576374 33576374 C T Validation Negative METMCC_603 5 50090885 50090885 G T Validation Negative METMCC_603 5 71490045 71490045 C T Validation Negative METMCC_603 5 71739612 71739612 C T Validation Negative METMCC_603 5 135549236 135549236 C T Validation Negative METMCC_603 5 140166236 140166236 G A SH3RF1:NM_02087 nonsynonymo 0:exon5:c.C920T:p.S us SNV 307F IRX1:NM_024337:ex nonsynonymo IRX1 on2:c.G1298A:p.S43 us SNV 3N ADAMTS16:NM_139 ADAMTS nonsynonymo 056:exon4:c.G520A: 16 us SNV p.E174K ADAMTS12:NM_030 ADAMTS nonsynonymo 955:exon19:c.G3757 12 us SNV A:p.G1253R PARP8:NM_001178 056:exon12:c.G1062 T:p.M354I,PARP8:N nonsynonymo M_024615:exon12:c. PARP8 us SNV G1062T:p.M354I,PA RP8:NM_001178055 :exon13:c.G1062T:p. M354I MAP1B:NM_005909: nonsynonymo MAP1B exon5:c.C863T:p.S2 us SNV 88L ZNF366:NM_152625 nonsynonymo ZNF366 :exon5:c.G2206A:p. us SNV E736K TRPC7:NM_001167 576:exon10:c.G2128 A:p.E710K,TRPC7:N nonsynonymo M_001167577:exon1 TRPC7 us SNV 1:c.G2293A:p.E765K ,TRPC7:NM_020389 :exon12:c.G2476A:p. E826K SH3RF1 PCDHA1 NA NA NA 20 0 0% 138 10 NA NA NA 12 0 0% 187 29 13.43% rs376978 039 28 0 0% 236 13 5.22% NA 0.0002 6.76% NA NA NA 18 0 0% 208 17 7.56% NA NA NA 33 0 0% 146 13 8.18% NA NA NA 36 0 0% 202 17 7.76% NA NA NA 46 0 0% 189 23 10.85% NA NA NA 29 0 0% 153 30 16.39% PCDHA1:NM_01890 0:exon1:c.G361A:p. V121M,PCDHA1:NM nonsynonymo _031410:exon1:c.G3 NA us SNV 61A:p.V121M,PCDH A1:NM_031411:exon 1:c.G361A:p.V121M NA NA 24 0 0% 222 21 NA NA NA 77 0 0% 156 18 10.34% NA NA NA 40 0 0% 112 14 11.11% NA NA NA 18 0 0% 311 22 NA NA NA 20 0 0% 159 18 10.17% NA NA NA 43 0 0% 89 14 13.59% NA NA NA 33 0 0% 165 19 10.33% PCDHA5:NM_01890 8:exon1:c.C853T:p.L 285F,PCDHA5:NM_ 031501:exon1:c.C85 3T:p.L285F PCDHA6:NM_01890 9:exon1:c.T2382G:p. D794E,PCDHA6:NM _031848:exon1:c.T2 382G:p.D794E PCDHA8:NM_01891 1:exon1:c.G430A:p. E144K,PCDHA8:NM _031856:exon1:c.G4 30A:p.E144K PCDHAC1:NM_0188 98:exon1:c.G1516A: p.A506T,PCDHAC1: NM_031882:exon1:c .G1516A:p.A506T PCDHB1:NM_01334 0:exon1:c.G1560A:p. M520I PCDHB4:NM_01893 8:exon1:c.G1115A:p. R372K PCDHB13:NM_0189 33:exon1:c.G775A:p. G259S 8.64% Validation Negative METMCC_603 5 140202213 140202213 C T PCDHA5 nonsynonymo us SNV Validation Negative METMCC_603 5 140210058 140210058 T G PCDHA6 nonsynonymo us SNV Validation Negative METMCC_603 5 140221336 140221336 G A PCDHA8 nonsynonymo us SNV Validation Negative METMCC_603 5 140307993 140307993 G A PCDHAC nonsynonymo 1 us SNV Validation Negative METMCC_603 5 140432615 140432615 G A PCDHB1 nonsynonymo us SNV Validation Negative METMCC_603 5 140502695 140502695 G A PCDHB4 nonsynonymo us SNV Validation Negative METMCC_603 5 140594470 140594470 G A PCDHB13 nonsynonymo us SNV NA NA rs178446 10 32 0 0% 386 25 NA NA 14 0 0% 135 17 11.18% NA NA NA 14 0 0% 176 34 16.19% NA NA NA 18 0 0% 123 12 NA NA NA 19 0 0% 131 15 10.27% NA NA NA 14 0 0% 273 29 9.60% NA NA NA 12 0 0% 424 33 7.22% Validation Negative METMCC_603 5 140720811 140720811 C T PCDHGA2:NM_0189 15:exon1:c.C2273T: PCDHGA nonsynonymo p.S758F,PCDHGA2: NA 2 us SNV NM_032009:exon1:c .C2273T:p.S758F Validation Negative METMCC_603 5 150696607 150696607 G A SLC36A2 Validation Negative METMCC_603 5 156788559 156788559 G A CYFIP2 Validation Negative METMCC_603 5 169469104 169469104 G A DOCK2 Validation Negative METMCC_603 5 176722200 176722200 C T NSD1 Validation Negative METMCC_603 5 179192868 179192868 C T MAML1 SLC36A2:NM_18177 nonsynonymo 6:exon10:c.C1223T: us SNV p.S408F CYFIP2:NM_001291 721:exon25:c.G2914 A:p.E972K,CYFIP2: NM_001037333:exo n26:c.G2992A:p.E99 nonsynonymo 8K,CYFIP2:NM_014 us SNV 376:exon26:c.G2992 A:p.E998K,CYFIP2: NM_001291722:exo n27:c.G3067A:p.E10 23K DOCK2:NM_004946: nonsynonymo exon38:c.G3844A:p. us SNV E1282K NSD1:NM_022455:e xon23:c.C7831T:p.P nonsynonymo 2611S,NSD1:NM_17 us SNV 2349:exon24:c.C702 4T:p.P2342S MAML1:NM_014757: nonsynonymo exon2:c.C857T:p.S2 us SNV 86F 6.61% 6.08% 8.89% Validation Negative METMCC_603 6 27783075 27783075 A C Validation Negative METMCC_603 6 28403931 28403931 C T Validation Negative METMCC_603 6 30554061 30554061 C T Validation Negative METMCC_603 6 30893438 30893438 C T Validation Negative METMCC_603 6 33141672 33141672 G T Validation Negative METMCC_603 6 34100940 34100940 C T Validation Negative METMCC_603 6 37613720 37613720 G A Validation Negative METMCC_603 6 41708287 41708287 C T Validation Negative METMCC_603 6 43114362 43114362 C T Validation Negative METMCC_603 6 90405496 90405496 G A Validation Negative METMCC_603 6 90605311 90605311 C T Validation Negative METMCC_603 6 100896458 100896458 C G Validation Negative METMCC_603 6 132891537 132891537 C T Validation Negative METMCC_603 6 152647180 152647180 C T Validation Negative METMCC_603 7 901072 901072 G A Validation Negative METMCC_603 7 4050612 4050612 G A Validation Negative METMCC_603 7 13971313 13971313 C T Validation Negative METMCC_603 7 41729949 41729949 C T HIST1H2BM:NM_00 HIST1H2 nonsynonymo 3521:exon1:c.A254C BM us SNV :p.N85T ZSCAN23:NM_0010 nonsynonymo ZSCAN23 12455:exon2:c.G113 us SNV A:p.R38K ABCF1:NM_001090: exon17:c.C1750T:p. nonsynonymo ABCF1 P584S,ABCF1:NM_0 us SNV 01025091:exon18:c. C1864T:p.P622S VARS2:NM_001167 nonsynonymo VARS2 734:exon28:c.C2993 us SNV T:p.P998L COL11A2:NM_0806 79:exon31:c.C2240A :p.A747D,COL11A2: nonsynonymo NM_080681:exon32: COL11A2 us SNV c.C2303A:p.A768D, COL11A2:NM_0806 80:exon34:c.C2561A :p.A854D GRM4:NM_000841:e xon2:c.G334A:p.D11 nonsynonymo GRM4 2N,GRM4:NM_0012 us SNV 56811:exon2:c.G334 A:p.D112N MDGA1:NM_153487 nonsynonymo MDGA1 :exon12:c.C2237T:p. us SNV P746L PGC:NM_002630:ex nonsynonymo PGC on6:c.G709A:p.G237 us SNV R PTK7:NM_152881:e xon14:c.C2257T:p.L 753F,PTK7:NM_152 880:exon16:c.C2527 T:p.L843F,PTK7:NM nonsynonymo _152882:exon16:c.C PTK7 us SNV 2479T:p.L827F,PTK 7:NM_001270398:ex on17:c.C2671T:p.L8 91F,PTK7:NM_0028 21:exon17:c.C2647T :p.L883F MDN1:NM_014611:e nonsynonymo MDN1 xon61:c.C9599T:p.S us SNV 3200F GJA10:NM_032602: nonsynonymo GJA10 exon1:c.C1124T:p.P us SNV 375L SIM1:NM_005068:ex nonsynonymo SIM1 on6:c.G640C:p.G214 us SNV R TAAR6:NM_175067: nonsynonymo TAAR6 exon1:c.C77T:p.P26 us SNV L SYNE1:NM_033071: exon79:c.G15138A:p nonsynonymo SYNE1 .M5046I,SYNE1:NM us SNV _182961:exon80:c.G 15351A:p.M5117I SUN1:NM_00117194 4:exon13:c.G1526A: p.G509E,SUN1:NM_ nonsynonymo 025154:exon14:c.G1 SUN1 us SNV 586A:p.G529E,SUN 1:NM_001130965:ex on15:c.G1835A:p.G6 12E SDK1:NM_152744:e nonsynonymo SDK1 xon15:c.G2146A:p.V us SNV 716M ETV1:NM_00116315 1:exon4:c.G442A:p. E148K,ETV1:NM_00 1163152:exon4:c.G3 07A:p.E103K,ETV1: NM_001163150:exo n5:c.G496A:p.E166K ,ETV1:NM_0011631 nonsynonymo ETV1 49:exon7:c.G562A:p. us SNV E188K,ETV1:NM_00 1163147:exon8:c.G6 16A:p.E206K,ETV1: NM_001163148:exo n8:c.G562A:p.E188K ,ETV1:NM_004956:e xon9:c.G616A:p.E20 6K INHBA:NM_002192: nonsynonymo INHBA exon3:c.G580A:p.E1 us SNV 94K NA NA NA 20 0 0% 138 16 10.39% NA NA NA 16 0 0% 190 15 7.32% NA NA NA 17 0 0% 257 25 8.87% NA NA NA 13 0 0% 150 29 16.20% NA NA NA 18 0 0% 359 48 11.79% NA NA NA 11 0 0% 548 82 13.02% NA NA NA 19 0 0% 190 22 10.38% NA NA NA 12 0 0% 430 32 6.93% NA NA NA 15 0 0% 310 27 8.01% NA NA NA 10 0 0% 144 26 15.29% NA NA NA 24 0 0% 244 26 NA NA NA 12 0 0% 161 24 12.97% NA NA rs375145 401 42 0 0% 167 17 NA NA NA 55 0 0% 98 14 12.50% NA NA NA 34 0 0% 201 23 10.27% NA NA NA 37 0 0% 352 37 9.51% NA NA NA 29 0 0% 134 11 7.59% NA NA NA 16 0 0% 254 30 10.56% 9.63% 9.24% Validation Negative METMCC_603 7 50468308 C T IKZF1 nonsynonymo us SNV Validation Negative METMCC_603 7 100552535 100552535 G A MUC3A nonsynonymo us SNV Validation Negative METMCC_603 7 100552549 100552549 C A MUC3A nonsynonymo us SNV Validation Negative METMCC_603 7 100636383 100636383 G A MUC12 nonsynonymo us SNV Validation Negative METMCC_603 7 100685141 100685141 C T MUC17 nonsynonymo us SNV 50468308 Validation Negative METMCC_603 7 101926357 101926357 C T CUX1 Validation Negative METMCC_603 7 143747538 143747538 G T OR2A5 Validation Negative METMCC_603 7 149152926 149152926 G A Validation Negative METMCC_603 7 150027985 150027985 G C Validation Negative METMCC_603 7 150706610 150706610 G A Validation Negative METMCC_603 7 155556596 155556596 G A Validation Negative METMCC_603 8 30706207 30706207 A C Validation Negative METMCC_603 8 41469737 41469737 A G Validation Negative METMCC_603 8 42229161 42229161 G A Validation Negative METMCC_603 8 77766545 77766545 C T Validation Negative METMCC_603 8 88885653 88885653 G A Validation Negative METMCC_603 8 104438366 104438366 T C Validation Negative METMCC_603 8 120569885 120569885 T A IKZF1:NM_0012918 40:exon3:c.C853T:p. R285C,IKZF1:NM_0 01220771:exon4:c.C 1114T:p.R372C,IKZF 1:NM_001291843:ex on4:c.C988T:p.R330 C,IKZF1:NM_001291 844:exon4:c.C958T: p.R320C,IKZF1:NM_ 001220768:exon5:c. C1282T:p.R428C,IK ZF1:NM_001220770: exon5:c.C1126T:p.R 376C,IKZF1:NM_001 291841:exon5:c.C11 14T:p.R372C,IKZF1: NM_001291842:exo n5:c.C1084T:p.R362 C,IKZF1:NM_001220 767:exon6:c.C1252T :p.R418C,IKZF1:NM _001291839:exon6:c .C1156T:p.R386C,IK ZF1:NM_001220765: exon7:c.C1417T:p.R 473C,IKZF1:NM_001 291837:exon7:c.C14 17T:p.R473C,IKZF1: MUC3A:NM_005960: exon2:c.G3116A:p.S 1039N MUC3A:NM_005960: exon2:c.C3130A:p.L 1044I MUC12:NM_001164 462:exon2:c.G2539A :p.V847I MUC17:NM_001040 105:exon3:c.C10444 T:p.P3482S NA NA NA 21 0 0% 421 48 10.23% NA NA rs731637 58 19 0 0% 358 19 5.04% NA NA rs731637 60 19 0 0% 378 19 4.79% NA NA rs200317 318 16 0 0% 76 NA NA NA 27 0 0% 171 14 7.57% CUX1:NM_00120254 4:exon22:c.C1964T: p.A655V,CUX1:NM_ 001202545:exon22:c .C1874T:p.A625V,C nonsynonymo UX1:NM_001202546 NA us SNV :exon22:c.C1895T:p. A632V,CUX1:NM_00 1913:exon23:c.C201 2T:p.A671V,CUX1:N M_181500:exon23:c. C2006T:p.A669V NA NA 16 0 0% 517 54 9.46% NA NA NA 10 0 0% 115 10 8% NA NA NA 18 0 0% 428 47 9.89% NA NA NA 13 0 0% 250 29 10.39% NA NA NA 10 0 0% 138 28 16.87% NA NA NA 12 0 0% 314 32 NA NA NA 32 0 0% 54 NA NA NA 17 0 0% 155 10 6.06% NA NA NA 36 0 0% 175 17 8.85% NA NA NA 37 0 0% 394 94 19.26% NA NA NA 19 0 0% 314 35 10.03% NA NA rs200175 003 109 0 0% 68 11 13.92% NA NA NA 39 0 0% 106 OR2A5:NM_012365: nonsynonymo exon1:c.G44T:p.G15 us SNV V ZNF777:NM_015694 nonsynonymo ZNF777 :exon2:c.C188T:p.P6 us SNV 3L ZBED6CL:NM_1384 nonsynonymo ZBED6CL 34:exon1:c.G492C:p. us SNV Q164H NOS3:NM_000603:e nonsynonymo NOS3 xon20:c.G2449A:p.V us SNV 817M RBM33:NM_053043: nonsynonymo RBM33 exon15:c.G3070A:p. us SNV V1024M TEX15:NM_031271: nonsynonymo TEX15 exon1:c.T327G:p.N1 us SNV 09K AGPAT6:NM_17881 nonsynonymo AGPAT6 9:exon7:c.A740G:p. us SNV N247S POLB:NM_002690:e nonsynonymo POLB xon14:c.G994A:p.D3 us SNV 32N ZFHX4:NM_024721: nonsynonymo ZFHX4 exon10:c.C7388T:p. us SNV P2463L DCAF4L2:NM_1524 nonsynonymo DCAF4L2 18:exon1:c.C547T:p. us SNV P183S DCAF13:NM_01542 nonsynonymo DCAF13 0:exon4:c.T917C:p.L us SNV 306S ENPP2:NM_001040 092:exon25:c.A2468 T:p.H823L,ENPP2:N nonsynonymo M_001130863:exon2 ENPP2 us SNV 6:c.A2543T:p.H848L ,ENPP2:NM_006209 :exon26:c.A2624T:p. H875L 13 14.61% 9.25% 12 18.18% 10 8.62% Validation Negative METMCC_603 8 144904002 144904002 C T PUF60 nonsynonymo us SNV Validation Negative METMCC_603 8 144940706 144940706 C T EPPK1 nonsynonymo us SNV Validation Negative METMCC_603 8 144941231 144941231 G A EPPK1 nonsynonymo us SNV Validation Negative METMCC_603 8 145583727 145583727 C T SLC52A2 nonsynonymo us SNV Validation Negative METMCC_603 8 146067436 146067436 T G ZNF7 nonsynonymo us SNV Validation Negative METMCC_603 9 4286398 4286398 G A GLIS3 nonsynonymo us SNV Validation Negative METMCC_603 9 16436369 16436369 G A BNC2 nonsynonymo us SNV Validation Negative METMCC_603 9 21239931 21239931 C T IFNA14 nonsynonymo us SNV TEK Validation Negative METMCC_603 9 27212779 27212779 G A Validation Negative METMCC_603 9 32630224 32630224 G A TAF1L Validation Negative METMCC_603 9 35546522 35546522 G A RUSC2 Validation Negative METMCC_603 9 35547189 35547189 C T RUSC2 Validation Negative METMCC_603 9 35674191 35674191 G A CA9 Validation Negative METMCC_603 9 35792439 35792439 G A NPR2 Validation Negative METMCC_603 9 36087874 36087874 G A RECK Validation Negative METMCC_603 9 37441917 37441917 T G ZBTB5 Validation Negative METMCC_603 9 79321301 79321301 C T PRUNE2 Validation Negative METMCC_603 9 116046645 116046645 C T PRPF4 Validation Negative METMCC_603 9 117139164 117139164 G A AKNA Validation Negative METMCC_603 Validation Negative METMCC_603 9 130658591 130658591 G 9 131517768 131517768 C PUF60:NM_0012710 97:exon2:c.G106A:p. E36K,PUF60:NM_00 1271099:exon2:c.G1 06A:p.E36K,PUF60: NM_001136033:exo n3:c.G64A:p.E22K,P UF60:NM_00127109 6:exon3:c.G190A:p. E64K,PUF60:NM_00 1271098:exon3:c.G1 90A:p.E64K,PUF60: NM_001271100:exo n3:c.G64A:p.E22K,P UF60:NM_014281:ex on3:c.G193A:p.E65K ,PUF60:NM_078480: exon3:c.G193A:p.E6 5K EPPK1:NM_031308: exon2:c.G6716A:p.R 2239H EPPK1:NM_031308: exon2:c.C6191T:p.S 2064L SLC52A2:NM_00125 3815:exon3:c.C575T :p.P192L,SLC52A2: NM_001253816:exo n3:c.C575T:p.P192L ,SLC52A2:NM_0245 31:exon3:c.C575T:p. P192L ZNF7:NM_00128279 7:exon4:c.T656G:p.F 219C,ZNF7:NM_001 282795:exon5:c.T97 7G:p.F326C,ZNF7:N M_003416:exon5:c.T 944G:p.F315C GLIS3:NM_0010424 13:exon2:c.C28T:p.L 10F BNC2:NM_017637:e xon6:c.C1823T:p.P6 08L IFNA14:NM_002172: exon1:c.G4A:p.A2T NA NA NA 27 0 0% 475 NA NA rs112377 501 27 0 0% 1667 134 7.44% NA NA NA 18 0 0% 741 57 7.14% NA NA NA 10 0 0% 560 66 10.54% NA NA NA 14 0 0% 230 30 11.54% NA NA rs369092 025 15 0 0% 140 23 14.11% NA NA NA 24 0 0% 178 22 NA NA NA 22 0 0% 71 TEK:NM_001290078 :exon15:c.G2317A:p. E773K,TEK:NM_001 nonsynonymo 290077:exon16:c.G2 NA us SNV 632A:p.E878K,TEK: NM_000459:exon17: c.G2761A:p.E921K NA NA 29 0 0% 267 24 8.25% NA NA NA 33 0 0% 241 14 5.49% NA NA NA 12 0 0% 301 23 7.10% NA NA NA 12 0 0% 218 31 12.45% rs113042 654 17 0 0% 226 14 TAF1L:NM_153809: nonsynonymo exon1:c.C5354T:p.P us SNV 1785L RUSC2:NM_001135 999:exon2:c.G4A:p. nonsynonymo D2N,RUSC2:NM_01 us SNV 4806:exon2:c.G4A:p. D2N RUSC2:NM_001135 999:exon2:c.C671T: nonsynonymo p.S224F,RUSC2:NM us SNV _014806:exon2:c.C6 71T:p.S224F CA9:NM_001216:ex nonsynonymo on1:c.G235A:p.G79 us SNV R nonsynonymo NPR2:NM_003995:e us SNV xon1:c.G34A:p.A12T RECK:NM_021111:e nonsynonymo xon9:c.G821A:p.G27 us SNV 4E ZBTB5:NM_014872: nonsynonymo exon2:c.A632C:p.E2 us SNV 11A PRUNE2:NM_01522 nonsynonymo 5:exon8:c.G5889A:p. us SNV M1963I PRPF4:NM_0012449 26:exon7:c.C725T:p. nonsynonymo S242F,PRPF4:NM_0 us SNV 04697:exon7:c.C728 T:p.S243F AKNA:NM_030767:e nonsynonymo xon3:c.C923T:p.P30 us SNV 8L NA 0.0002 55 10.38% 11% 13 15.48% 5.83% NA NA NA 11 0 0% 314 65 17.15% NA NA NA 51 0 0% 102 14 12.07% NA NA NA 16 0 0% 314 41 11.55% NA NA NA 33 0 0% 144 11 NA NA NA 56 0 0% 106 12 10.17% NA NA NA 11 0 0% 285 30 9.52% A ST6GALNAC6:NM_0 01286999:exon3:c.C ST6GALN nonsynonymo 47T:p.P16L,ST6GAL NA AC6 us SNV NAC6:NM_013443:e xon3:c.C47T:p.P16L NA NA 19 0 0% 209 22 9.52% T ZER1:NM_006336:e nonsynonymo xon2:c.G77A:p.G26 NA us SNV D NA NA 21 0 0% 144 27 15.79% ZER1 7.10% Validation Negative METMCC_603 9 132400103 132400103 C T ASB6 nonsynonymo us SNV Validation Negative METMCC_603 9 138590941 138590941 C T SOHLH1 nonsynonymo us SNV Validation Negative METMCC_603 9 139409154 139409154 C T NOTCH1 nonsynonymo us SNV Validation Negative METMCC_603 9 139409852 139409852 C T NOTCH1 nonsynonymo us SNV Validation Negative METMCC_603 9 139960797 139960797 C T SAPCD2 nonsynonymo us SNV ASB6:NM_00120240 3:exon5:c.G1145A:p. S382N,ASB6:NM_01 7873:exon6:c.G1232 A:p.S411N SOHLH1:NM_00101 2415:exon2:c.G97A: p.E33K,SOHLH1:NM _001101677:exon2:c .G97A:p.E33K NOTCH1:NM_01761 7:exon13:c.G2015A: p.G672E NOTCH1:NM_01761 7:exon12:c.G1904A: p.G635E SAPCD2:NM_17844 8:exon2:c.G601A:p. D201N FAM171A1:NM_001 010924:exon8:c.C25 27T:p.P843S KIAA1217:NM_0012 82769:exon7:c.C143 9T:p.P480L,KIAA121 7:NM_001282770:ex on7:c.C1439T:p.P48 0L,KIAA1217:NM_00 1282767:exon11:c.C 2285T:p.P762L,KIAA 1217:NM_00128276 8:exon11:c.C2285T: p.P762L,KIAA1217: NM_019590:exon12: c.C2390T:p.P797L,K IAA1217:NM_00109 8500:exon13:c.C215 0T:p.P717L HNRNPF:NM_00109 8208:exon3:c.A513T :p.K171N,HNRNPF: NM_001098204:exo n4:c.A513T:p.K171N ,HNRNPF:NM_0010 98205:exon4:c.A513 T:p.K171N,HNRNPF: NM_001098206:exo n4:c.A513T:p.K171N ,HNRNPF:NM_0010 98207:exon4:c.A513 T:p.K171N,HNRNPF: NM_004966:exon4:c .A513T:p.K171N TMEM72:NM_00112 3376:exon5:c.G818A :p.G273D FRMPD2:NM_00101 8071:exon16:c.G200 6A:p.R669Q WDFY4:NM_020945 :exon46:c.G7469A:p. G2490E HKDC1:NM_025130: exon17:c.G2458A:p. E820K NA NA NA 20 0 0% 382 46 10.75% NA NA NA 11 0 0% 166 29 14.87% NA NA NA 15 0 0% 525 65 11.02% NA NA NA 10 0 0% 587 93 13.68% NA NA NA 11 0 0% 352 20 NA NA NA 21 0 0% 337 39 10.37% NA NA NA 12 0 0% 87 11 11.22% NA NA NA 24 0 0% 497 57 10.29% NA NA NA 24 0 0% 339 59 14.82% NA NA NA 20 0 0% 193 19 NA NA NA 18 0 0% 202 24 10.62% 5.38% Validation Negative METMCC_603 10 15255060 15255060 G A FAM171A nonsynonymo 1 us SNV Validation Negative METMCC_603 10 24810792 24810792 C T KIAA1217 nonsynonymo us SNV Validation Negative METMCC_603 10 43882820 43882820 T A HNRNPF nonsynonymo us SNV Validation Negative METMCC_603 10 45430572 45430572 G A TMEM72 nonsynonymo us SNV Validation Negative METMCC_603 10 49400886 49400886 C T FRMPD2 nonsynonymo us SNV Validation Negative METMCC_603 10 50108297 50108297 G A WDFY4 nonsynonymo us SNV Validation Negative METMCC_603 10 71025426 71025426 G A HKDC1 nonsynonymo us SNV NA NA NA 12 0 0% 218 52 19.26% CDH23:NM_001171 930:exon31:c.A3943 nonsynonymo C:p.N1315H,CDH23: NA us SNV NM_022124:exon31: c.A3943C:p.N1315H NA NA 20 0 0% 382 37 NA NA NA 10 0 0% 162 26 13.83% NA NA rs139759 944 11 0 0% 247 22 NA NA NA 10 0 0% 124 27 17.88% NA NA NA 35 0 0% 135 20 12.90% NA NA NA 16 0 0% 351 30 NA NA NA 10 0 0% 474 66 12.22% NA NA NA 25 0 0% 188 18 Validation Negative METMCC_603 10 73491971 73491971 A C CDH23 Validation Negative METMCC_603 10 79569333 79569333 C T DLG5 Validation Negative METMCC_603 10 98741943 98741943 G A Validation Negative METMCC_603 10 101090429 101090429 G A Validation Negative METMCC_603 10 104111126 104111126 C T Validation Negative METMCC_603 10 135106711 135106711 C T Validation Negative METMCC_603 11 824651 824651 A C Validation Negative METMCC_603 11 1092910 1092910 G A DLG5:NM_004747:e nonsynonymo xon24:c.G4619A:p.G us SNV 1540D C10orf12:NM_01565 nonsynonymo C10orf12 2:exon1:c.G796A:p. us SNV E266K CNNM1:NM_020348 nonsynonymo CNNM1 :exon1:c.G1285A:p. us SNV V429M GBF1:NM_00119937 8:exon5:c.C409T:p.L 137F,GBF1:NM_001 nonsynonymo GBF1 199379:exon5:c.C40 us SNV 9T:p.L137F,GBF1:N M_004193:exon5:c. C409T:p.L137F TUBGCP2:NM_0012 56618:exon6:c.G466 A:p.G156R,TUBGCP TUBGCP nonsynonymo 2:NM_006659:exon7 2 us SNV :c.G856A:p.G286R,T UBGCP2:NM_00125 6617:exon8:c.G940A :p.G314R PNPLA2:NM_02037 nonsynonymo PNPLA2 6:exon10:c.A1304C: us SNV p.K435T MUC2:NM_002457:e nonsynonymo MUC2 xon30:c.G4729A:p.G us SNV 1577S 8.96% 8.83% 8.18% 7.87% 8.74% Validation Negative METMCC_603 11 1092971 1092971 C T Validation Negative METMCC_603 11 1092973 1092973 C T Validation Negative METMCC_603 11 1093298 1093298 C T Validation Negative METMCC_603 11 1605743 1605743 G A Validation Negative METMCC_603 11 6566323 6566323 G A Validation Negative METMCC_603 11 7981546 7981546 G A Validation Negative METMCC_603 11 11398885 11398885 C A Validation Negative METMCC_603 11 12262630 12262630 C T Validation Negative METMCC_603 11 17531312 17531312 C T Validation Negative METMCC_603 11 19955549 19955549 G A Validation Negative METMCC_603 11 20180794 20180794 C T Validation Negative METMCC_603 11 36614187 36614187 C T Validation Negative METMCC_603 11 45832881 45832881 G A Validation Negative METMCC_603 11 46677817 46677817 G A MUC2:NM_002457:e nonsynonymo xon30:c.C4790T:p.T us SNV 1597I MUC2:NM_002457:e nonsynonymo MUC2 xon30:c.C4792T:p.P us SNV 1598S MUC2:NM_002457:e nonsynonymo MUC2 xon30:c.C5117T:p.T us SNV 1706M KRTAP5KRTAP5- nonsynonymo 1:NM_001005922:ex 1 us SNV on1:c.C737T:p.S246 F DNHD1:NM_144666: nonsynonymo DNHD1 exon21:c.G4154A:p. us SNV R1385Q NLRP10:NM_176821 nonsynonymo NLRP10 :exon2:c.C1613T:p.S us SNV 538F GALNT18:NM_1985 nonsynonymo GALNT18 16:exon5:c.G821T:p. us SNV R274L MICAL2:NM_001282 664:exon17:c.C2258 T:p.S753F,MICAL2: nonsynonymo NM_001282663:exo MICAL2 us SNV n18:c.C2258T:p.S75 3F,MICAL2:NM_014 632:exon18:c.C2258 T:p.S753F USH1C:NM_153676: nonsynonymo USH1C exon18:c.G1604A:p. us SNV G535E NAV2:NM_00111101 8:exon7:c.G1567A:p. E523K,NAV2:NM_14 5117:exon7:c.G1759 nonsynonymo A:p.E587K,NAV2:N NAV2 us SNV M_182964:exon7:c. G1759A:p.E587K,NA V2:NM_001244963:e xon8:c.G1828A:p.E6 10K DBX1:NM_00102986 nonsynonymo DBX1 5:exon2:c.G412A:p. us SNV A138T MUC2 RAG2 NA NA NA 25 0 0% 182 10 5.21% NA NA NA 21 0 0% 169 15 8.15% NA NA NA 14 0 0% 118 10 7.81% NA NA NA 16 0 0% 132 26 16.46% NA NA NA 19 0 0% 275 51 15.64% NA NA NA 49 0 0% 113 15 11.72% NA NA NA 18 0 0% 237 19 7.42% NA NA NA 17 0 0% 414 34 7.59% NA NA NA 20 0 0% 253 26 9.32% NA NA NA 18 0 0% 205 23 10.09% NA NA NA 16 0 0% 186 26 12.26% RAG2:NM_000536:e xon2:c.G1532A:p.G5 11E,RAG2:NM_0012 nonsynonymo 43785:exon3:c.G153 NA us SNV 2A:p.G511E,RAG2:N M_001243786:exon3 :c.G1532A:p.G511E NA NA 69 0 0% 92 10 9.80% NA NA 10 0 0% 228 22 8.80% NA NA 59 0 0% 165 13 7.30% NA NA 28 0 0% 163 23 12.37% SLC35C1:NM_01838 9:exon2:c.G1090A:p. V364M,SLC35C1:N nonsynonymo M_001145265:exon3 SLC35C1 NA us SNV :c.G1051A:p.V351M, SLC35C1:NM_00114 5266:exon3:c.G1051 A:p.V351M ATG13:NM_0012051 22:exon6:c.G256A:p. G86R,ATG13:NM_0 01205119:exon7:c.G 493A:p.G165R,ATG 13:NM_001205120:e xon7:c.G493A:p.G16 nonsynonymo ATG13 5R,ATG13:NM_0011 NA us SNV 42673:exon8:c.G493 A:p.G165R,ATG13:N M_001205121:exon8 :c.G493A:p.G165R,A TG13:NM_014741:e xon8:c.G493A:p.G16 5R Validation Negative METMCC_603 11 46690365 46690365 G A ATG13 ATG13:NM_0012051 22:exon13:c.G904A: p.E302K,ATG13:NM _001205120:exon15: c.G1252A:p.E418K, ATG13:NM_0012051 21:exon15:c.G1141A nonsynonymo :p.E381K,ATG13:NM NA us SNV _014741:exon15:c.G 1141A:p.E381K,ATG 13:NM_001142673:e xon16:c.G1252A:p.E 418K,ATG13:NM_00 1205119:exon16:c.G 1351A:p.E451K Validation Negative METMCC_603 11 47869857 47869857 C T NUP160 NUP160:NM_015231 nonsynonymo :exon1:c.G116A:p.G NA us SNV 39E NA NA 12 0 0% 315 37 10.51% A SERPING1:NM_001 032295:exon2:c.G33 SERPING nonsynonymo 4A:p.D112N,SERPIN NA 1 us SNV G1:NM_000062:exon 3:c.G334A:p.D112N NA NA 25 0 0% 267 23 Validation Negative METMCC_603 11 57367634 57367634 G 7.93% Validation Negative METMCC_603 11 62285663 62285663 G A AHNAK Validation Negative METMCC_603 11 64081785 64081785 C T ESRRA Validation Negative METMCC_603 11 66469168 66469168 C T SPTBN2 Validation Negative METMCC_603 11 67166311 67166311 T A PPP1CA AHNAK:NM_001620: nonsynonymo exon5:c.C16226T:p. NA us SNV P5409L ESRRA:NM_001282 450:exon4:c.C517T: p.P173S,ESRRA:NM nonsynonymo _001282451:exon4:c NA us SNV .C517T:p.P173S,ES RRA:NM_004451:ex on4:c.C517T:p.P173 S SPTBN2:NM_00694 nonsynonymo 6:exon15:c.G2703A: NA us SNV p.M901I PPP1CA:NM_20687 3:exon5:c.A632T:p.Y 211F,PPP1CA:NM_0 nonsynonymo 01008709:exon6:c.A NA us SNV 797T:p.Y266F,PPP1 CA:NM_002708:exo n6:c.A764T:p.Y255F Validation Negative METMCC_603 11 67176485 67176485 G A TBC1D10 nonsynonymo C us SNV Validation Negative METMCC_603 11 73021521 73021521 G A ARHGEF1 nonsynonymo 7 us SNV Validation Negative METMCC_603 11 92534580 92534580 G A FAT3 nonsynonymo us SNV Validation Negative METMCC_603 11 94731459 94731459 C T KDM4D nonsynonymo us SNV Validation Negative METMCC_603 11 117105050 117105050 G A RNF214 nonsynonymo us SNV Validation Negative METMCC_603 11 118926856 118926856 C T HYOU1 nonsynonymo us SNV Validation Negative METMCC_603 11 120097661 120097661 C T OAF nonsynonymo us SNV Validation Negative METMCC_603 11 134022937 134022937 G A NCAPD3 nonsynonymo us SNV Validation Negative METMCC_603 12 2061842 2061842 G A DCP1B nonsynonymo us SNV Validation Negative METMCC_603 12 4479528 4479528 G A FGF23 nonsynonymo us SNV Validation Negative METMCC_603 12 48376323 48376323 T C COL2A1 nonsynonymo us SNV Validation Negative METMCC_603 12 49498327 49498327 C T LMBR1L nonsynonymo us SNV Validation Negative METMCC_603 12 49743361 49743361 C T DNAJC22 nonsynonymo us SNV Validation Negative METMCC_603 12 49959881 49959881 G A MCRS1 nonsynonymo us SNV Validation Negative METMCC_603 12 55368253 55368253 C T TESPA1 nonsynonymo us SNV Validation Negative METMCC_603 12 56495322 56495322 C T ERBB3 nonsynonymo us SNV Validation Negative METMCC_603 12 57960931 57960931 C T KIF5A nonsynonymo us SNV Validation Negative METMCC_603 12 58160658 58160658 C T CYP27B1 nonsynonymo us SNV Validation Negative METMCC_603 12 102291678 102291678 G A DRAM1 nonsynonymo us SNV Validation Negative METMCC_603 12 106995119 106995119 C T RFX4 nonsynonymo us SNV Validation Negative METMCC_603 12 108641798 108641798 C T WSCD2 nonsynonymo us SNV Validation Negative METMCC_603 12 111786106 111786106 G A CUX2 nonsynonymo us SNV TBC1D10C:NM_001 256508:exon8:c.G68 0A:p.G227D,TBC1D 10C:NM_198517:exo n9:c.G874A:p.V292 M ARHGEF17:NM_014 786:exon1:c.G1838A :p.S613N FAT3:NM_00100878 1:exon9:c.G8401A:p. D2801N KDM4D:NM_018039: exon3:c.C923T:p.S3 08F RNF214:NM_001077 239:exon2:c.G62A:p. S21N,RNF214:NM_0 01278249:exon2:c.G 62A:p.S21N,RNF214 :NM_207343:exon2: c.G62A:p.S21N HYOU1:NM_001130 991:exon2:c.G17A:p. R6K,HYOU1:NM_00 6389:exon2:c.G17A: p.R6K OAF:NM_178507:ex on3:c.C503T:p.A168 V NCAPD3:NM_01526 1:exon35:c.C4399T: p.P1467S DCP1B:NM_152640: exon7:c.C1264T:p.H 422Y FGF23:NM_020638: exon3:c.C737T:p.P2 46L COL2A1:NM_03315 0:exon33:c.A2056G: p.R686G,COL2A1:N M_001844:exon34:c. A2263G:p.R755G LMBR1L:NM_01811 3:exon5:c.C339A:p. N113K DNAJC22:NM_0249 02:exon2:c.C706T:p. L236F MCRS1:NM_001012 300:exon2:c.C167T: p.P56L,MCRS1:NM_ 006337:exon3:c.C12 8T:p.P43L TESPA1:NM_00109 8815:exon2:c.G94A: p.E32K,TESPA1:NM _001136030:exon2:c .G94A:p.E32K ERBB3:NM_001982: exon28:c.C3512T:p. S1171F KIF5A:NM_004984:e xon7:c.C524T:p.S17 5F CYP27B1:NM_0007 85:exon1:c.G167A:p. G56E DRAM1:NM_018370: exon2:c.G169A:p.G5 7R RFX4:NM_00120669 1:exon1:c.C65T:p.S2 2F WSCD2:NM_014653 :exon9:c.C1376T:p.P 459L CUX2:NM_015267:e xon22:c.G4438A:p.E 1480K NA NA NA 21 0 0% 426 36 NA NA 13 0 0% 532 64 10.74% NA NA 14 0 0% 198 22 NA NA 15 0 0% 625 70 10.07% rs201172 483 10 0 0% 96 33 25.58% 0.000399 7.79% 10% NA NA NA 10 0 0% 384 94 19.67% NA NA NA 44 0 0% 119 14 10.53% NA NA NA 24 0 0% 236 22 8.53% NA NA NA 33 0 0% 137 15 9.87% rs147083 969 24 0 0% 247 29 10.51% NA 0.0002 NA NA NA 12 0 0% 416 69 14.23% NA NA NA 22 0 0% 238 28 10.53% NA NA NA 19 0 0% 207 31 13.03% NA NA NA 13 0 0% 264 45 14.56% NA NA NA 12 0 0% 202 23 10.22% NA NA NA 26 0 0% 222 22 9.02% NA NA NA 13 0 0% 361 36 9.07% NA NA NA 14 0 0% 105 10 8.70% NA NA NA 13 0 0% 133 15 10.14% NA NA NA 36 0 0% 293 29 9.01% NA NA NA 33 0 0% 251 11 4.20% NA NA NA 27 0 0% 375 51 11.97% NA NA NA 54 0 0% 112 11 8.94% NA NA NA 15 0 0% 182 19 9.45% NA NA NA 23 0 0% 315 36 10.26% NA NA NA 23 0 0% 211 28 11.72% Validation Negative METMCC_603 Validation Negative METMCC_603 12 112119525 112119525 T 12 117665334 117665334 G G A Validation Negative METMCC_603 12 121019164 121019164 A T Validation Negative METMCC_603 12 122284839 122284839 C T Validation Negative METMCC_603 12 122691762 122691762 C T Validation Negative METMCC_603 12 123187239 123187239 A G Validation Negative METMCC_603 12 123915155 123915155 G T Validation Negative METMCC_603 12 130926621 130926621 G A Validation Negative METMCC_603 12 133149128 133149128 C T Validation Negative METMCC_603 12 133384997 133384997 C T Validation Negative METMCC_603 13 24797233 99083390 24797233 C T Validation Negative METMCC_603 13 99083390 G A Validation Negative METMCC_603 13 113333817 113333817 G A Validation Negative METMCC_603 14 G 47120938 47120938 A BRAP BRAP:NM_006768:e nonsynonymo xon3:c.A359C:p.Q12 NA us SNV 0P NA NA 72 0 0% 176 13 6.88% NOS1 NOS1:NM_0012042 13:exon22:c.C2510T :p.S837F,NOS1:NM_ 001204214:exon22:c nonsynonymo .C2510T:p.S837F,N NA us SNV OS1:NM_000620:ex on23:c.C3518T:p.S1 173F,NOS1:NM_001 204218:exon24:c.C3 620T:p.S1207F NA NA 15 0 0% 156 12 7.14% NA NA 14 0 0% 219 35 13.78% NA NA 12 0 0% 282 28 9.03% NA NA 10 0 0% 421 45 9.66% 14 0 0% 158 18 10.23% POP5:NM_015918:e nonsynonymo xon1:c.T2A:p.M1K,P POP5 NA us SNV OP5:NM_198202:ex on1:c.T2A:p.M1K HPD:NM_002150:ex on11:c.G760A:p.E25 nonsynonymo HPD 4K,HPD:NM_001171 NA us SNV 993:exon13:c.G643A :p.E215K B3GNT4:NM_03076 nonsynonymo B3GNT4 5:exon3:c.C964T:p.H NA us SNV 322Y HCAR2:NM_177551: nonsynonymo HCAR2 exon1:c.T592C:p.F1 NA us SNV 98L RILPL2:NM_145058: nonsynonymo RILPL2 exon2:c.C391A:p.P1 NA us SNV 31T RIMBP2:NM_015347 nonsynonymo RIMBP2 :exon8:c.C1225T:p.L NA us SNV 409F FBRSL1:NM_001142 nonsynonymo FBRSL1 641:exon11:c.C1504 NA us SNV T:p.P502S GOLGA3:NM_00117 2557:exon5:c.G658A nonsynonymo GOLGA3 :p.G220R,GOLGA3: NA us SNV NM_005895:exon5:c .G658A:p.G220R NA NA 31 0 0% 154 12 NA NA 12 0 0% 259 31 10.69% NA NA 12 0 0% 671 69 9.32% NA NA 28 0 0% 318 31 8.88% NA NA 11 0 0% 397 88 18.14% NA NA 13 0 0% 190 31 14.03% NA NA 19 0 0% 327 47 12.57% NA NA 15 0 0% 160 35 17.95% NA NA NA 14 0 0% 232 65 21.89% NA NA NA 20 0 0% 120 12 9.09% NA NA NA 12 0 0% 353 32 8.31% NA NA NA 15 0 0% 247 28 10.18% NA NA NA 18 0 0% 563 61 SPATA13:NM_0011 66271:exon2:c.C166 nonsynonymo SPATA13 T:p.P56S,SPATA13: NA us SNV NM_001286792:exo n4:c.C352T:p.P118S FARP1:NM_0012868 39:exon18:c.G1999A nonsynonymo FARP1 :p.D667N,FARP1:N NA us SNV M_005766:exon18:c. G1999A:p.D667N ATP11AUN:NM_207 ATP11AU nonsynonymo 440:exon2:c.G124A: NA N us SNV p.G42R RPL10L nonsynonymo RPL10L:NM_080746 NA us SNV :exon1:c.T2C:p.M1T Validation Negative METMCC_603 14 59113449 59113449 G A DACT1 nonsynonymo us SNV Validation Negative METMCC_603 14 77297674 77297674 G A LRRC74A nonsynonymo us SNV Validation Negative METMCC_603 14 93117989 93117989 G A RIN3 nonsynonymo us SNV Validation Negative METMCC_603 14 94847224 94847224 C T SERPINA nonsynonymo 1 us SNV Validation Negative METMCC_603 14 100604115 100604115 C T EVL nonsynonymo us SNV DACT1:NM_001079 520:exon4:c.G1997A :p.G666E,DACT1:N M_016651:exon4:c. G2108A:p.G703E LRRC74A:NM_1942 87:exon3:c.G346A:p. G116S RIN3:NM_024832:ex on6:c.G595A:p.D199 N SERPINA1:NM_000 295:exon3:c.G901A: p.E301K,SERPINA1: NM_001002235:exo n3:c.G901A:p.E301K ,SERPINA1:NM_001 127700:exon3:c.G90 1A:p.E301K,SERPIN A1:NM_001127702:e xon4:c.G901A:p.E30 1K,SERPINA1:NM_0 01127706:exon4:c.G 901A:p.E301K,SERP INA1:NM_00112770 7:exon4:c.G901A:p. E301K,SERPINA1:N M_001002236:exon5 :c.G901A:p.E301K,S ERPINA1:NM_00112 7701:exon5:c.G901A :p.E301K,SERPINA1 :NM_001127703:exo n5:c.G901A:p.E301K ,SERPINA1:NM_001 127704:exon5:c.G90 1A:p.E301K,SERPIN A1:NM_001127705:e xon5:c.G901A:p.E30 1K EVL:NM_016337:exo n11:c.C1070T:p.P35 7L 0.009185 rs676823 7.23% 9.78% Validation Negative METMCC_603 14 102881067 102881067 G A TECPR2 nonsynonymo us SNV Validation Negative METMCC_603 14 102894666 102894666 G A TECPR2 nonsynonymo us SNV Validation Negative METMCC_603 15 24922348 24922348 C T NPAP1 nonsynonymo us SNV Validation Negative METMCC_603 15 25958871 25958871 G A ATP10A nonsynonymo us SNV Validation Negative METMCC_603 15 41810000 41810000 T A RPAP1 nonsynonymo us SNV Validation Negative METMCC_603 15 41819751 41819751 A C RPAP1 nonsynonymo us SNV Validation Negative METMCC_603 15 42980621 42980621 G A STARD9 nonsynonymo us SNV NEO1 Validation Negative METMCC_603 15 73528829 73528829 C T Validation Negative METMCC_603 15 79586477 79586477 G T Validation Negative METMCC_603 16 1254228 1254228 G A Validation Negative METMCC_603 16 1718096 1718096 C T Validation Negative METMCC_603 16 3017557 3017557 C T Validation Negative METMCC_603 16 3458411 3458411 C T Validation Negative METMCC_603 16 3640896 3640896 C T Validation Negative METMCC_603 16 4625817 4625817 G A Validation Negative METMCC_603 16 20432621 20432621 G A Validation Negative METMCC_603 16 20873800 20873800 C T Validation Negative METMCC_603 16 27476744 27476744 A C Validation Negative METMCC_603 16 49764772 49764772 C T Validation Negative METMCC_603 16 55862883 55862883 C A Validation Negative METMCC_603 16 65032695 65032695 C T Validation Negative METMCC_603 16 66997462 66997462 C T Validation Negative METMCC_603 16 67916337 67916337 G T Validation Negative METMCC_603 16 70605613 70605613 C T Validation Negative METMCC_603 16 71884742 71884742 C T TECPR2:NM_00117 2631:exon5:c.G575A :p.R192K,TECPR2:N M_014844:exon5:c. G575A:p.R192K TECPR2:NM_00117 2631:exon7:c.G1031 A:p.G344E,TECPR2: NM_014844:exon7:c .G1031A:p.G344E NPAP1:NM_018958: exon1:c.C1334T:p.S 445F ATP10A:NM_024490 :exon10:c.C2294T:p. T765I RPAP1:NM_015540: exon24:c.A4028T:p. D1343V RPAP1:NM_015540: exon12:c.T1481G:p. L494R STARD9:NM_02075 9:exon23:c.G6845A: p.R2282K NA NA NA 25 0 0% 212 27 11.30% NA NA NA 25 0 0% 130 10 7.14% NA NA NA 19 0 0% 253 17 6.30% NA NA NA 11 0 0% 240 22 8.40% NA NA NA 18 0 0% 474 32 6.32% NA NA NA 11 0 0% 259 47 15.36% NA NA NA 43 0 0% 238 25 NEO1:NM_0011726 23:exon8:c.C1433T: p.T478I,NEO1:NM_0 nonsynonymo 01172624:exon8:c.C NA us SNV 1433T:p.T478I,NEO 1:NM_002499:exon8 :c.C1433T:p.T478I NA NA 19 0 0% 73 NA NA 16 0 0% 223 24 9.72% NA NA 11 0 0% 301 32 9.61% NA NA 12 0 0% 403 34 7.78% NA NA 10 0 0% 262 38 12.67% NA NA NA 18 0 0% 174 13 NA NA NA 15 0 0% 479 55 10.30% NA NA NA 10 0 0% 317 33 NA NA rs375942 136 29 0 0% 219 29 11.69% NA NA NA 15 0 0% 213 21 8.97% NA NA NA 13 0 0% 297 18 5.71% NA NA NA 17 0 0% 246 22 8.21% NA NA rs343803 75 34 0 0% 348 33 8.66% NA NA NA 34 0 0% 100 14 12.28% NA NA NA 10 0 0% 419 36 NA NA NA 16 0 0% 542 65 10.71% NA NA NA 26 0 0% 181 16 8.12% NA NA NA 19 0 0% 471 37 7.28% ANKRD34C:NM_001 ANKRD34 nonsynonymo 146341:exon2:c.G85 NA C us SNV 1T:p.S284I CACNA1H:NM_0010 05407:exon10:c.G22 CACNA1 nonsynonymo 21A:p.D741N,CACN NA H us SNV A1H:NM_021098:ex on10:c.G2221A:p.D7 41N CRAMP1L:NM_0208 nonsynonymo CRAMP1L 25:exon17:c.C3236T NA us SNV :p.S1079F KREMEN2:NM_0012 53726:exon8:c.C101 KREMEN nonsynonymo 3T:p.S338L,KREME NA 2 us SNV N2:NM_172229:exon 8:c.C1130T:p.S377L ZNF174:NM_003450 nonsynonymo ZNF174 :exon3:c.C716T:p.S2 us SNV 39F SLX4:NM_032444:ex nonsynonymo SLX4 on12:c.G2743A:p.E9 us SNV 15K C16orf96:NM_00114 nonsynonymo C16orf96 5011:exon5:c.G1336 us SNV A:p.G446R ACSM5:NM_017888: nonsynonymo ACSM5 exon5:c.G665A:p.R2 us SNV 22Q DCUN1D3:NM_1734 nonsynonymo DCUN1D3 75:exon2:c.G61A:p. us SNV D21N GTF3C1:NM_00128 6242:exon33:c.T519 nonsynonymo 2G:p.L1731R,GTF3 GTF3C1 us SNV C1:NM_001520:exon 33:c.T5192G:p.L173 1R ZNF423:NM_001271 620:exon3:c.G7A:p. nonsynonymo ZNF423 D3N,ZNF423:NM_01 us SNV 5069:exon3:c.G187A :p.D63N CES1:NM_00102519 4:exon2:c.G53T:p.G 18V,CES1:NM_0010 nonsynonymo CES1 25195:exon2:c.G56T us SNV :p.G19V,CES1:NM_ 001266:exon2:c.G53 T:p.G18V CDH11:NM_001797: nonsynonymo CDH11 exon4:c.G293A:p.G9 us SNV 8E CES3:NM_00118517 7:exon3:c.C356T:p.S nonsynonymo CES3 119F,CES3:NM_024 us SNV 922:exon3:c.C356T: p.S119F EDC4:NM_014329:e nonsynonymo EDC4 xon25:c.G3282T:p.L us SNV 1094F SF3B3:NM_012426: nonsynonymo SF3B3 exon26:c.C3551T:p. us SNV S1184F ATXN1L:NM_001137 nonsynonymo ATXN1L 675:exon3:c.C1099T us SNV :p.H367Y 9.51% 11 13.10% 6.95% 9.43% 7.91% Validation Negative METMCC_603 16 72828476 72828476 C T ZFHX3 nonsynonymo us SNV Validation Negative METMCC_603 16 73164950 73164950 C T C16orf47 nonsynonymo us SNV Validation Negative METMCC_603 16 77232162 77232162 C T MON1B nonsynonymo us SNV Validation Negative METMCC_603 16 81253737 81253737 G A PKD1L2 nonsynonymo us SNV Validation Negative METMCC_603 16 87760441 87760441 G A KLHDC4 nonsynonymo us SNV Validation Negative METMCC_603 17 4576925 4576925 C T PELP1 nonsynonymo us SNV Validation Negative METMCC_603 17 5462841 5462841 G A NLRP1 nonsynonymo us SNV Validation Negative METMCC_603 17 6599058 6599058 C G SLC13A5 nonsynonymo us SNV Validation Negative METMCC_603 17 7611973 7611973 C T EFNB3 nonsynonymo us SNV Validation Negative METMCC_603 17 8647006 8647006 C T CCDC42 nonsynonymo us SNV Validation Negative METMCC_603 17 9631837 9631837 C T USP43 nonsynonymo us SNV Validation Negative METMCC_603 17 10299676 10299676 C T MYH8 nonsynonymo us SNV Validation Negative METMCC_603 17 18023201 18023201 C T MYO15A nonsynonymo us SNV Validation Negative METMCC_603 17 26096068 26096068 C T NOS2 nonsynonymo us SNV Validation Negative METMCC_603 17 37071397 37071397 G A LASP1 nonsynonymo us SNV ZFHX3:NM_0011647 66:exon8:c.G5363A: p.R1788Q,ZFHX3:N M_006885:exon9:c. G8105A:p.R2702Q C16orf47:NM_20738 5:exon3:c.G74A:p.G 25E MON1B:NM_001286 640:exon4:c.C1163T :p.S388F,MON1B:N M_001286639:exon5 :c.C1274T:p.S425F, MON1B:NM_014940 :exon6:c.C1601T:p.S 534F PKD1L2:NM_001076 780:exon1:c.C239T: p.S80F KLHDC4:NM_00118 4854:exon5:c.C518T :p.P173L,KLHDC4:N M_001184856:exon6 :c.C596T:p.P199L,K LHDC4:NM_017566: exon7:c.C689T:p.P2 30L PELP1:NM_014389: exon14:c.G1777A:p. E593K,PELP1:NM_0 01278241:exon15:c. G1186A:p.E396K NLRP1:NM_0010330 53:exon4:c.C1175T: p.P392L,NLRP1:NM _014922:exon4:c.C1 175T:p.P392L,NLRP 1:NM_033004:exon4 :c.C1175T:p.P392L, NLRP1:NM_033006: exon4:c.C1175T:p.P 392L,NLRP1:NM_03 3007:exon4:c.C1175 T:p.P392L SLC13A5:NM_00128 4510:exon6:c.G913C :p.E305Q,SLC13A5: NM_001143838:exo n7:c.G1042C:p.E348 Q,SLC13A5:NM_001 284509:exon7:c.G99 1C:p.E331Q,SLC13 A5:NM_177550:exon 7:c.G1042C:p.E348 Q EFNB3:NM_001406: exon4:c.C529T:p.P1 77S CCDC42:NM_00115 8261:exon3:c.G232A :p.E78K,CCDC42:N M_144681:exon3:c. G232A:p.E78K USP43:NM_0012675 76:exon15:c.C2887T :p.P963S,USP43:NM _153210:exon15:c.C 2902T:p.P968S MYH8:NM_002472:e xon33:c.G4624A:p.E 1542K MYO15A:NM_01623 9:exon2:c.C1087T:p. P363S NOS2:NM_000625:e xon17:c.G1969A:p.G 657R LASP1:NM_0012716 08:exon5:c.G442A:p. G148R,LASP1:NM_0 06148:exon6:c.G610 A:p.G204R NA NA NA 21 0 0% 357 26 6.79% NA NA NA 39 0 0% 148 23 13.45% NA NA NA 11 0 0% 337 26 7.16% NA NA NA 31 0 0% 263 16 5.73% NA NA NA 10 0 0% 144 20 12.20% NA NA NA 12 0 0% 255 34 11.76% NA NA NA 15 0 0% 146 21 12.57% NA NA NA 15 0 0% 185 32 14.75% NA NA NA 11 0 0% 288 29 NA NA NA 20 0 0% 172 22 11.34% NA NA NA 19 0 0% 242 32 11.68% NA NA NA 67 1 1.47% 58 10 14.71% NA NA NA 10 0 0% 709 96 11.93% NA NA NA 10 0 0% 473 48 NA NA NA 10 0 0% 100 15 13.04% 9.15% 9.21% Validation Negative METMCC_603 17 37922309 37922309 G A IKZF3 nonsynonymo us SNV Validation Negative METMCC_603 17 39723763 39723763 C T KRT9 nonsynonymo us SNV Validation Negative METMCC_603 17 40990113 40990113 C T PSME3 nonsynonymo us SNV Validation Negative METMCC_603 17 42225779 42225779 T C C17orf53 nonsynonymo us SNV Validation Negative METMCC_603 17 44076830 44076830 C T STH nonsynonymo us SNV Validation Negative METMCC_603 17 51901251 51901251 C T KIF2B nonsynonymo us SNV Validation Negative METMCC_603 17 55478803 55478803 G T MSI2 nonsynonymo us SNV Validation Negative METMCC_603 17 56404975 56404975 C T BZRAP1 nonsynonymo us SNV CYB561 Validation Negative METMCC_603 17 61514788 61514788 C T IKZF3:NM_0012845 16:exon3:c.C523T:p. P175S,IKZF3:NM_00 1257413:exon4:c.C6 01T:p.P201S,IKZF3: NM_001257412:exo n5:c.C718T:p.P240S ,IKZF3:NM_0012574 14:exon5:c.C862T:p. P288S,IKZF3:NM_00 1257409:exon6:c.C1 045T:p.P349S,IKZF3 :NM_001257411:exo n6:c.C835T:p.P279S ,IKZF3:NM_183231: exon6:c.C979T:p.P3 27S,IKZF3:NM_1832 32:exon6:c.C1030T: p.P344S,IKZF3:NM_ 001257408:exon7:c. C1162T:p.P388S,IK ZF3:NM_001257410: exon7:c.C1003T:p.P 335S,IKZF3:NM_183 228:exon7:c.C1096T :p.P366S,IKZF3:NM_ 183229:exon7:c.C11 47T:p.P383S,IKZF3: NM 183230:exon7:c KRT9:NM_000226:e xon7:c.G1634A:p.G5 45E PSME3:NM_005789: exon6:c.C296T:p.T9 9I,PSME3:NM_1768 63:exon6:c.C296T:p. T99I,PSME3:NM_00 1267045:exon8:c.C3 29T:p.T110I C17orf53:NM_00117 1251:exon3:c.T608C :p.V203A,C17orf53: NM_024032:exon3:c .T608C:p.V203A STH:NM_001007532 :exon1:c.C185T:p.S6 2L KIF2B:NM_032559:e xon1:c.C857T:p.P28 6L MSI2:NM_170721:ex on5:c.G364T:p.V122 L,MSI2:NM_138962: exon6:c.G376T:p.V1 26L BZRAP1:NM_00126 1835:exon1:c.G307A :p.D103N,BZRAP1:N M_004758:exon1:c. G307A:p.D103N,BZ RAP1:NM_024418:e xon1:c.G307A:p.D10 3N NA NA NA 20 0 0% 228 27 10.59% NA NA rs373214 503 14 0 0% 383 26 6.36% NA NA NA 24 0 0% 193 12 5.85% NA NA NA 11 0 0% 279 27 8.82% NA NA NA 23 0 0% 297 33 10% NA NA NA 29 0 0% 240 30 11.11% NA NA NA 16 0 0% 159 21 11.67% NA NA NA 11 0 0% 540 68 11.18% CYB561:NM_001017 916:exon2:c.G121A: p.G41S,CYB561:NM nonsynonymo _001017917:exon2:c NA us SNV .G121A:p.G41S,CYB 561:NM_001915:exo n2:c.G121A:p.G41S NA NA 13 0 0% 381 41 NA NA NA 12 0 0% 569 71 11.09% NA NA rs749553 34 14 0 0% 337 17 4.80% NA NA NA 16 0 0% 362 26 6.70% NA NA NA 39 0 0% 415 46 9.98% NA NA NA 36 0 0% 201 16 7.37% NA NA NA 18 0 0% 250 28 10.07% NA NA NA 79 0 0% 70 19 21.35% NA NA NA 29 0 0% 190 25 11.63% NA NA NA 18 0 0% 349 37 9.59% NA NA NA 24 0 0% 203 18 8.14% Validation Negative METMCC_603 17 72435970 72435970 C T GPRC5C nonsynonymo us SNV Validation Negative METMCC_603 17 74017554 74017554 G T EVPL nonsynonymo us SNV Validation Negative METMCC_603 17 74287429 74287429 C T QRICH2 nonsynonymo us SNV Validation Negative METMCC_603 17 80851432 80851432 C T TBCD nonsynonymo us SNV Validation Negative METMCC_603 17 81006567 81006567 G A B3GNTL1 nonsynonymo us SNV Validation Negative METMCC_603 18 9859239 9859239 C T RAB31 nonsynonymo us SNV Validation Negative METMCC_603 18 13073105 13073105 C T CEP192 nonsynonymo us SNV Validation Negative METMCC_603 18 22807566 22807566 C T ZNF521 nonsynonymo us SNV Validation Negative METMCC_603 18 31324221 31324221 C T ASXL3 nonsynonymo us SNV Validation Negative METMCC_603 18 47367767 47367767 G A MYO5B nonsynonymo us SNV GPRC5C:NM_01865 3:exon2:c.C91T:p.P3 1S,GPRC5C:NM_02 2036:exon2:c.C190T :p.P64S EVPL:NM_001988:e xon9:c.C1006A:p.R3 36S QRICH2:NM_032134 :exon4:c.G2881A:p. E961K TBCD:NM_005993:e xon17:c.C1573T:p.P 525S B3GNTL1:NM_0010 09905:exon2:c.C155 T:p.S52F RAB31:NM_006868: exon7:c.C505T:p.P1 69S CEP192:NM_032142 :exon30:c.C5537T:p. P1846L ZNF521:NM_015461 :exon4:c.G316A:p.D 106N ASXL3:NM_030632: exon12:c.C4409T:p. P1470L MYO5B:NM_001080 467:exon35:c.C4669 T:p.L1557F 9.72% Validation Negative METMCC_603 18 74607107 74607107 G A ZNF236 Validation Negative METMCC_603 18 77488914 77488914 C T CTDP1 Validation Negative METMCC_603 19 1490204 1490204 C T PCSK4 Validation Negative METMCC_603 19 2222130 2222130 C T DOT1L Validation Negative METMCC_603 19 6710825 6710825 C T C3 Validation Negative METMCC_603 19 8669905 8669905 C T ADAMTS 10 Validation Negative METMCC_603 19 9046413 9046413 G A MUC16 Validation Negative METMCC_603 19 9204779 9204779 C T OR1M1 Validation Negative METMCC_603 19 10449466 10449466 C T ICAM3 Validation Negative METMCC_603 19 12865477 12865477 G C BEST2 Validation Negative METMCC_603 19 15990627 15990627 G A CYP4F2 Validation Negative METMCC_603 19 16268502 16268502 C T HSH2D Validation Negative METMCC_603 19 17366322 17366322 G A USHBP1 Validation Negative METMCC_603 19 17374839 17374839 C T USHBP1 Validation Negative METMCC_603 19 18321857 18321857 T G PDE4C Validation Negative METMCC_603 19 18376716 18376716 C T KIAA1683 Validation Negative METMCC_603 19 18902075 18902075 C T COMP Validation Negative METMCC_603 19 19257881 19257881 G A MEF2B,M EF2BNBMEF2B Validation Negative METMCC_603 19 33696500 33696500 G A LRP3 Validation Negative METMCC_603 19 35832835 35832835 G A CD22 Validation Negative METMCC_603 19 36898890 36898890 G A ZFP82 Validation Negative METMCC_603 19 39423131 39423131 C T MRPS12 ZNF236:NM_007345 nonsynonymo :exon10:c.G1550A:p. us SNV R517H CTDP1:NM_001202 504:exon11:c.C2068 nonsynonymo T:p.P690S,CTDP1:N us SNV M_004715:exon11:c. C2425T:p.P809S PCSK4:NM_017573: nonsynonymo exon1:c.G142A:p.E4 us SNV 8K DOT1L:NM_032482: nonsynonymo exon24:c.C2962T:p. us SNV P988S C3:NM_000064:exon nonsynonymo 13:c.G1511A:p.G504 us SNV E ADAMTS10:NM_030 nonsynonymo 957:exon4:c.G427A: us SNV p.G143R MUC16:NM_024690: nonsynonymo exon5:c.C35218T:p. us SNV P11740S OR1M1:NM_001004 nonsynonymo 456:exon1:c.C859T: us SNV p.P287S ICAM3:NM_002162: nonsynonymo exon2:c.G235A:p.G7 us SNV 9S BEST2:NM_017682: nonsynonymo exon3:c.G359C:p.R1 us SNV 20P CYP4F2:NM_001082 nonsynonymo :exon10:c.C1196T:p. us SNV S399F HSH2D:NM_001291 274:exon9:c.C785T: nonsynonymo p.S262F,HSH2D:NM us SNV _032855:exon9:c.C9 56T:p.S319F USHBP1:NM_03194 nonsynonymo 1:exon10:c.C1564T: us SNV p.P522S USHBP1:NM_03194 nonsynonymo 1:exon3:c.G175A:p. us SNV E59K PDE4C:NM_001098 818:exon15:c.A1925 C:p.E642A,PDE4C:N nonsynonymo M_001098819:exon1 us SNV 5:c.A1703C:p.E568A ,PDE4C:NM_000923 :exon16:c.A2021C:p. E674A KIAA1683:NM_0011 45304:exon3:c.G163 4A:p.G545D,KIAA16 nonsynonymo 83:NM_001145305:e us SNV xon3:c.G1496A:p.G4 99D,KIAA1683:NM_ 025249:exon3:c.G16 34A:p.G545D nonsynonymo COMP:NM_000095: us SNV exon1:c.G4A:p.V2I MEF2B:NM_001145 785:exon5:c.C505T: nonsynonymo p.P169S,MEF2BNBus SNV MEF2B:NM_005919: exon7:c.C505T:p.P1 69S LRP3:NM_002333:e nonsynonymo xon5:c.G824A:p.R27 us SNV 5H NA NA NA 11 0 0% 252 48 NA NA NA 17 0 0% 336 49 12.73% NA NA NA 13 0 0% 392 51 11.51% NA NA NA 14 0 0% 434 75 14.73% NA NA NA 10 0 0% 173 20 10.36% NA NA NA 10 0 0% 249 15 5.68% NA NA NA 37 0 0% 201 13 6.07% NA NA NA 20 0 0% 179 12 6.28% NA NA NA 14 0 0% 227 16 6.58% NA NA NA 12 0 0% 198 20 9.17% NA NA NA 10 0 0% 205 14 6.39% NA NA NA 14 0 0% 352 51 12.66% NA NA NA 13 0 0% 310 45 12.68% NA NA NA 17 0 0% 411 56 11.99% NA NA NA 14 0 0% 413 35 NA NA NA 17 0 0% 349 43 10.97% NA NA NA 12 0 0% 146 15 NA NA NA 11 0 0% 258 47 15.41% NA NA NA 13 0 0% 672 94 12.27% CD22:NM_00118510 1:exon7:c.G1471A:p. G491S,CD22:NM_00 1185099:exon8:c.G1 738A:p.G580S,CD22 nonsynonymo :NM_001278417:exo NA us SNV n8:c.G1486A:p.G496 S,CD22:NM_001185 100:exon9:c.G2002A :p.G668S,CD22:NM_ 001771:exon9:c.G20 02A:p.G668S NA NA 11 0 0% 149 11 6.88% NA NA 33 0 0% 130 13 9.09% NA NA 20 0 0% 540 ZFP82:NM_133466: nonsynonymo exon3:c.C35T:p.S12 NA us SNV F MRPS12:NM_02110 7:exon2:c.C208T:p.P 70S,MRPS12:NM_0 nonsynonymo 33362:exon3:c.C208 NA us SNV T:p.P70S,MRPS12:N M_033363:exon3:c. C208T:p.P70S 16% 7.81% 9.32% 101 15.76% Validation Negative METMCC_603 19 39660263 39660263 G A PAK4 PAK4:NM_00101483 2:exon2:c.G70A:p.G 24S,PAK4:NM_0010 14834:exon2:c.G70A :p.G24S,PAK4:NM_0 nonsynonymo 01014835:exon3:c.G NA us SNV 70A:p.G24S,PAK4:N M_005884:exon3:c. G70A:p.G24S,PAK4: NM_001014831:exo n4:c.G70A:p.G24S MEGF8:NM_001271 938:exon2:c.T265A: p.Y89N,MEGF8:NM_ 001410:exon2:c.T26 5A:p.Y89N ZNF222:NM_001129 996:exon4:c.G1334A :p.R445K,ZNF222:N M_013360:exon4:c. G1214A:p.R405K CLPTM1:NM_00128 2175:exon12:c.G138 8T:p.R463L,CLPTM1 :NM_001282176:exo n12:c.G1124T:p.R37 5L,CLPTM1:NM_001 294:exon12:c.G1430 T:p.R477L FOSB:NM_0011141 71:exon3:c.C629T:p. P210L,FOSB:NM_00 6732:exon4:c.C737T :p.P246L PLA2G4C:NM_0011 59322:exon4:c.G269 A:p.G90E,PLA2G4C: NM_001159323:exo n4:c.G239A:p.G80E, PLA2G4C:NM_0037 06:exon4:c.G239A:p. G80E NA NA 14 0 0% 429 73 14.54% NA NA NA 24 0 0% 487 53 9.81% NA NA NA 69 0 0% 124 11 8.15% NA NA NA 20 0 0% 320 37 10.36% NA NA NA 12 0 0% 499 72 12.61% Validation Negative METMCC_603 19 42837834 42837834 T A MEGF8 nonsynonymo us SNV Validation Negative METMCC_603 19 44537041 44537041 G A ZNF222 nonsynonymo us SNV Validation Negative METMCC_603 19 45494506 45494506 G T CLPTM1 nonsynonymo us SNV Validation Negative METMCC_603 19 45975990 45975990 C T FOSB nonsynonymo us SNV Validation Negative METMCC_603 19 48607863 48607863 C T PLA2G4C nonsynonymo us SNV NA NA NA 13 0 0% 310 21 6.34% AKT1S1 AKT1S1:NM_001098 632:exon4:c.G568C: p.V190L,AKT1S1:N M_001098633:exon4 :c.G568C:p.V190L,A nonsynonymo KT1S1:NM_0012781 NA us SNV 59:exon4:c.G568C:p. V190L,AKT1S1:NM_ 001278160:exon4:c. G568C:p.V190L,AKT 1S1:NM_032375:exo n4:c.G628C:p.V210L NA NA 16 0 0% 439 38 7.97% NA NA NA 15 0 0% 392 27 6.44% NA NA NA 13 0 0% 216 36 14.29% NA NA NA 14 0 0% 282 20 6.62% NA NA NA 12 0 0% 204 12 5.56% NA NA NA 15 0 0% 273 14 4.88% NA NA NA 18 0 0% 143 21 12.80% NA NA rs141234 331 10 0 0% 81 98 54.75% NLRP7:NM_0011272 55:exon4:c.C1514T: p.S505F,NLRP7:NM nonsynonymo _139176:exon4:c.C1 NA us SNV 514T:p.S505F,NLRP 7:NM_206828:exon4 :c.C1514T:p.S505F NA NA 31 0 0% 457 Validation Negative METMCC_603 19 50374863 50374863 C G Validation Negative METMCC_603 19 50954558 50954558 C T Validation Negative METMCC_603 19 54721012 54721012 C T Validation Negative METMCC_603 19 54783260 54783260 C T Validation Negative METMCC_603 19 54803106 54803106 G A Validation Negative METMCC_603 19 54966655 54966655 C T Validation Negative METMCC_603 19 55107906 55107906 A G Validation Negative METMCC_603 19 55363704 55363704 G A Validation Negative METMCC_603 19 55450673 55450673 G A MYBPC2:NM_00453 nonsynonymo MYBPC2 3:exon15:c.C1601T: us SNV p.P534L LILRB3:NM_001081 450:exon13:c.G1849 nonsynonymo LILRB3 A:p.G617R,LILRB3: us SNV NM_006864:exon13: c.G1846A:p.G616R LILRB2:NM_001278 404:exon4:c.G250A: p.D84N,LILRB2:NM_ 001278405:exon4:c. G598A:p.D200N,LIL RB2:NM_001278406 :exon4:c.G598A:p.D nonsynonymo LILRB2 200N,LILRB2:NM_00 us SNV 1080978:exon5:c.G5 98A:p.D200N,LILRB 2:NM_001278403:ex on5:c.G598A:p.D200 N,LILRB2:NM_00587 4:exon5:c.G598A:p. D200N LILRA3:NM_006865: nonsynonymo LILRA3 exon4:c.C571T:p.R1 us SNV 91C LENG8:NM_052925: nonsynonymo LENG8 exon8:c.C934T:p.R3 us SNV 12C LILRA1:NM_001278 319:exon6:c.A1211G nonsynonymo LILRA1 :p.N404S,LILRA1:N us SNV M_006863:exon7:c.A 1211G:p.N404S KIR3DL2:NM_00124 2867:exon3:c.G322A nonsynonymo KIR3DL2 :p.A108T,KIR3DL2:N us SNV M_006737:exon3:c. G322A:p.A108T NLRP7 47 9.33% Validation Negative METMCC_603 19 56321635 56321635 C T Validation Negative METMCC_603 19 57176524 57176524 C T Validation Negative METMCC_603 20 3128270 3128270 C T Validation Negative METMCC_603 20 3128768 3128768 C T Validation Negative METMCC_603 20 5903894 5903894 A C Validation Negative METMCC_603 20 17462290 17462290 G A Validation Negative METMCC_603 20 18794878 18794878 T C Validation Negative METMCC_603 20 30585187 30585187 C T Validation Negative METMCC_603 20 31024342 31024342 C T Validation Negative METMCC_603 20 35125152 35125152 C T Validation Negative METMCC_603 20 43703718 43703718 G A Validation Negative METMCC_603 20 45354264 45354264 G A Validation Negative METMCC_603 20 47262417 47262417 C T Validation Negative METMCC_603 20 55033570 55033570 A C Validation Negative METMCC_603 21 41711072 41711072 A G Validation Negative METMCC_603 21 45924705 45924705 G A NLRP11:NM_145007 nonsynonymo :exon5:c.G341A:p.G us SNV 114E ZNF835:NM_001005 nonsynonymo ZNF835 850:exon2:c.G43A:p. us SNV E15K FASTKD5:NM_0218 nonsynonymo FASTKD5 26:exon2:c.G1447A: us SNV p.E483K FASTKD5:NM_0218 nonsynonymo FASTKD5 26:exon2:c.G949A:p. us SNV E317K CHGB:NM_001819:e nonsynonymo CHGB xon4:c.A1104C:p.E3 us SNV 68D PCSK2:NM_001201 529:exon11:c.G1387 A:p.E463K,PCSK2:N nonsynonymo M_002594:exon12:c. PCSK2 us SNV G1492A:p.E498K,PC SK2:NM_001201528 :exon13:c.G1435A:p. E479K SCP2D1:NM_17848 nonsynonymo SCP2D1 3:exon1:c.T419C:p.V us SNV 140A XKR7:NM_00101171 nonsynonymo XKR7 8:exon3:c.C1667T:p. us SNV P556L ASXL1:NM_015338: nonsynonymo ASXL1 exon12:c.C3827T:p. us SNV S1276F DLGAP4:NM_18300 6:exon2:c.C76T:p.P2 nonsynonymo DLGAP4 6S,DLGAP4:NM_014 us SNV 902:exon8:c.C1693T :p.P565S STK4:NM_006282:e nonsynonymo STK4 xon11:c.G1365A:p.M us SNV 455I SLC2A10:NM_03077 nonsynonymo SLC2A10 7:exon2:c.G589A:p. us SNV D197N PREX1:NM_020820: nonsynonymo PREX1 exon26:c.G3484A:p. us SNV D1162N CASS4:NM_001164 115:exon5:c.A817C: p.I273L,CASS4:NM_ 001164114:exon6:c. nonsynonymo A1966C:p.I656L,CA CASS4 us SNV SS4:NM_020356:exo n6:c.A2128C:p.I710L ,CASS4:NM_001164 116:exon7:c.A2128C :p.I710L DSCAM:NM_001271 534:exon7:c.T1481C nonsynonymo DSCAM :p.L494P,DSCAM:N us SNV M_001389:exon7:c.T 1481C:p.L494P NLRP11 TSPEAR Validation Negative METMCC_603 22 18020440 18020440 C T CECR2 Validation Negative METMCC_603 22 26839135 26839135 G A ASPHD2 Validation Negative METMCC_603 22 26861434 26861434 C T HPS4 Validation Negative METMCC_603 22 26888056 26888056 G A Validation Negative METMCC_603 22 39928432 39928432 G A Validation Negative METMCC_603 22 41650337 41650337 C T Validation Negative METMCC_603 22 42128564 42128564 G A Validation Negative METMCC_603 22 42341939 42341939 C T TFIP11 NA NA NA 55 0 0% 81 NA NA NA 24 0 0% 304 20 6.17% NA NA NA 18 0 0% 214 14 6.14% NA NA NA 62 0 0% 157 18 10.29% NA NA NA 24 0 0% 175 14 7.41% NA NA NA 12 0 0% 182 13 6.67% NA NA NA 43 0 0% 161 19 10.56% NA NA NA 18 0 0% 354 46 11.50% NA NA NA 15 0 0% 355 28 NA NA NA 14 0 0% 215 32 12.96% NA NA NA 25 0 0% 167 22 11.64% NA NA NA 13 0 0% 260 24 NA NA NA 13 0 0% 191 24 11.16% NA NA NA 16 0 0% 153 14 NA NA NA 31 0 0% 149 17 10.24% TSPEAR:NM_14499 1:exon11:c.C1814T: nonsynonymo p.S605F,TSPEAR:N NA us SNV M_001272037:exon1 2:c.C1610T:p.S537F NA NA 13 0 0% 290 16 5.23% NA NA 16 0 0% 119 13 9.85% NA NA 14 0 0% 449 48 9.66% NA NA 28 0 0% 355 32 8.27% NA NA 25 0 0% 306 40 11.56% NA NA NA 10 0 0% 101 17 14.41% NA NA NA 22 0 0% 367 29 NA NA NA 11 0 0% 132 21 13.73% NA NA NA 16 0 0% 283 21 CECR2:NM_001290 nonsynonymo 046:exon14:c.C1346 NA us SNV T:p.P449L ASPHD2:NM_02043 nonsynonymo 7:exon4:c.G1073A:p. NA us SNV R358Q HPS4:NM_152841:e xon8:c.G775A:p.E25 nonsynonymo 9K,HPS4:NM_02208 NA us SNV 1:exon10:c.G790A:p. E264K TFIP11:NM_012143: exon15:c.C2437T:p. nonsynonymo R813W,TFIP11:NM_ NA us SNV 001008697:exon16:c .C2437T:p.R813W RPS19BP1:NM_194 RPS19BP nonsynonymo 326:exon2:c.C149T: 1 us SNV p.S50L RANGAP1:NM_0028 83:exon11:c.G1235A RANGAP nonsynonymo :p.R412Q,RANGAP1 1 us SNV :NM_001278651:exo n12:c.G1235A:p.R41 2Q MEI1:NM_152513:ex nonsynonymo MEI1 on11:c.G1288A:p.E4 us SNV 30K CENPM:NM_001002 876:exon3:c.G208A: nonsynonymo CENPM p.V70I,CENPM:NM_ us SNV 024053:exon3:c.G20 8A:p.V70I 11 11.96% 7.31% 8.45% 8.38% 7.32% 6.91% Validation Negative METMCC_603 22 44276701 44276701 C T PNPLA5 nonsynonymo us SNV Validation Negative METMCC_603 22 44527373 44527373 T C PARVB nonsynonymo us SNV Validation Negative METMCC_603 22 50518426 50518426 A C MLC1 nonsynonymo us SNV Validation Negative METMCC_603 X 13778768 13778768 C T OFD1 nonsynonymo us SNV Validation Negative METMCC_603 X 21627285 21627285 G A CNKSR2 nonsynonymo us SNV Validation Negative METMCC_603 X 24089783 24089783 C T EIF2S3 nonsynonymo us SNV Validation Negative METMCC_603 X 26235713 26235713 G A MAGEB5 nonsynonymo us SNV Validation Negative METMCC_603 X 30260847 30260847 G A MAGEB4 nonsynonymo us SNV Validation Negative METMCC_603 X 34961627 34961627 C T FAM47B nonsynonymo us SNV Validation Negative METMCC_603 X 37027654 37027654 C T FAM47C nonsynonymo us SNV Validation Negative METMCC_603 X 40572234 40572234 C T MED14 nonsynonymo us SNV Validation Negative METMCC_603 X 48754125 48754125 C T TIMM17B nonsynonymo us SNV Validation Negative METMCC_603 X 49103268 49103268 G C CCDC22 nonsynonymo us SNV Validation Negative METMCC_603 X 50377059 50377059 G A SHROOM nonsynonymo 4 us SNV Validation Negative METMCC_603 X 54043080 54043080 C A PHF8 nonsynonymo us SNV Validation Negative METMCC_603 X 55650872 55650872 A G FOXR2 nonsynonymo us SNV Validation Negative METMCC_603 X 56291772 56291772 C G KLF8 nonsynonymo us SNV Validation Negative METMCC_603 X 83724207 83724207 A G HDX nonsynonymo us SNV Validation Negative METMCC_603 X 100743815 100743815 G A ARMCX4 nonsynonymo us SNV Validation Negative METMCC_603 X 100912572 100912572 C A ARMCX2 nonsynonymo us SNV Validation Negative METMCC_603 X 106806356 106806356 G T FRMPD3 nonsynonymo us SNV PNPLA5:NM_00117 7675:exon7:c.G922A :p.E308K,PNPLA5:N M_138814:exon9:c. G1264A:p.E422K PARVB:NM_001243 385:exon5:c.T272C: p.L91P,PARVB:NM_ 001243386:exon5:c. T227C:p.L76P,PARV B:NM_013327:exon5 :c.T383C:p.L128P,P ARVB:NM_0010038 28:exon6:c.T482C:p. L161P MLC1:NM_015166:e xon5:c.T344G:p.F11 5C,MLC1:NM_13920 2:exon5:c.T344G:p.F 115C OFD1:NM_003611:e xon16:c.C2189T:p.S 730F CNKSR2:NM_00116 8647:exon19:c.G215 2A:p.E718K,CNKSR 2:NM_001168649:ex on19:c.G2095A:p.E6 99K,CNKSR2:NM_0 01168648:exon20:c. G2242A:p.E748K,C NKSR2:NM_014927: exon20:c.G2242A:p. E748K EIF2S3:NM_001415: exon10:c.C1121T:p. S374F MAGEB5:NM_00127 1752:exon2:c.G295A :p.E99K MAGEB4:NM_00236 7:exon1:c.G595A:p. G199R FAM47B:NM_15263 1:exon1:c.C679T:p.P 227S FAM47C:NM_00101 3736:exon1:c.C1171 T:p.R391C MED14:NM_004229: exon6:c.G713A:p.G2 38E TIMM17B:NM_00116 7947:exon3:c.G43A: p.D15N,TIMM17B:N M_005834:exon3:c. G43A:p.D15N CCDC22:NM_01400 8:exon7:c.G791C:p. G264A SHROOM4:NM_020 717:exon4:c.C2014T :p.P672S PHF8:NM_00118489 6:exon6:c.G652T:p. G218W,PHF8:NM_0 01184897:exon6:c.G 544T:p.G182W,PHF 8:NM_001184898:ex on6:c.G544T:p.G182 W,PHF8:NM_01510 7:exon6:c.G544T:p. G182W FOXR2:NM_198451: exon1:c.A728G:p.N2 43S KLF8:NM_007250:ex on3:c.C241G:p.L81V ,KLF8:NM_00115929 6:exon4:c.C241G:p.L 81V HDX:NM_001177478 :exon3:c.T350C:p.I1 17T,HDX:NM_14465 7:exon3:c.T524C:p.I 175T,HDX:NM_0011 77479:exon4:c.T524 C:p.I175T ARMCX4:NM_00125 6155:exon2:c.G239A :p.R80K ARMCX2:NM_01478 2:exon5:c.G3T:p.M1I ,ARMCX2:NM_0012 82231:exon6:c.G3T: p.M1I,ARMCX2:NM_ 177949:exon6:c.G3T :p.M1I FRMPD3:NM_03242 8:exon12:c.G1141T: p.A381S NA 0.0002 rs377213 520 11 0 0% 319 43 11.88% NA NA NA 12 0 0% 235 32 11.99% NA NA NA 40 0 0% 181 18 NA NA NA 24 0 0% 170 25 12.82% NA NA NA 35 0 0% 122 22 15.28% NA NA NA 73 0 0% 201 14 6.51% NA NA NA 42 0 0% 124 10 7.46% NA NA NA 25 0 0% 249 21 7.78% NA NA NA 13 0 0% 214 34 13.71% NA NA rs202186 252 12 0 0% 365 58 13.71% NA NA NA 81 0 0% 98 11 10.09% NA NA NA 10 0 0% 329 38 10.35% NA NA NA 15 0 0% 238 18 7.03% NA NA NA 33 0 0% 298 29 8.87% NA NA NA 36 0 0% 125 11 8.09% NA NA NA 19 0 0% 169 13 7.14% NA NA NA 16 0 0% 114 11 8.80% NA NA NA 61 0 0% 48 NA NA NA 14 0 0% 153 13 7.83% NA NA NA 19 0 0% 244 19 7.22% NA NA NA 18 0 0% 177 22 11.06% 9.05% 10 17.24% Validation Negative METMCC_603 X 118222213 118222213 T C Validation Negative METMCC_603 X 118223680 118223680 T G Validation Negative METMCC_603 X 124456877 124456877 C T Validation Negative METMCC_603 X 125299775 125299775 G A Validation Negative METMCC_603 X 131762996 131762996 G A Validation Negative METMCC_603 X 136113196 136113196 G A Validation Negative METMCC_603 X 150912663 150912663 A G Validation Negative METMCC_603 X 152226667 152226667 G A Validation Negative METMCC_603 X 152937013 152937013 C T Validation Negative METMCC_603 X 153132146 153132146 C T Validation Negative METMCC_603 X 153171276 153171276 C T Validation Negative METMCC_603 X 153539490 153539490 G A KIAA1210:NM_0207 nonsynonymo 21:exon11:c.A2980G us SNV :p.K994E KIAA1210:NM_0207 nonsynonymo KIAA1210 21:exon11:c.A1513C us SNV :p.T505P LOC100129520:NM_ LOC1001 nonsynonymo 001195272:exon1:c. 29520 us SNV C2909T:p.P970L DCAF12L2:NM_001 DCAF12L nonsynonymo 013628:exon1:c.C13 2 us SNV 3T:p.P45S HS6ST2:NM_147175 :exon4:c.C1073T:p.S nonsynonymo HS6ST2 358F,HS6ST2:NM_0 us SNV 01077188:exon6:c.C 1193T:p.S398F GPR101:NM_05402 nonsynonymo GPR101 1:exon1:c.C638T:p.S us SNV 213F CNGA2:NM_005140: nonsynonymo CNGA2 exon7:c.A1688G:p.Y us SNV 563C PNMA3:NM_001282 535:exon2:c.G1255A nonsynonymo PNMA3 :p.E419K,PNMA3:N us SNV M_013364:exon2:c. G1255A:p.E419K PNCK:NM_0010395 82:exon6:c.G778A:p. nonsynonymo PNCK G260R,PNCK:NM_0 us SNV 01135740:exon6:c.G 580A:p.G194R L1CAM:NM_001143 963:exon17:c.G2374 A:p.G792R,L1CAM: NM_000425:exon18: nonsynonymo c.G2389A:p.G797R, L1CAM us SNV L1CAM:NM_024003: exon18:c.G2389A:p. G797R,L1CAM:NM_ 001278116:exon19:c .G2389A:p.G797R AVPR2:NM_000054: exon2:c.C316T:p.R1 nonsynonymo AVPR2 06C,AVPR2:NM_001 us SNV 146151:exon2:c.C31 6T:p.R106C KIAA1210 TKTL1 Validation Negative METMCC_603 11 17794146 17794146 G A KCNC1 Validation Negative METMCC_603 22 30064321 30064321 G A NF2 Validation Negative METMCC_603 21 27071192 27071192 G A JAM2 Validation Negative METMCC_603 3 184019634 184019634 G A PSMD2 Validation Negative METMCC_603 1 145527612 145527612 G A ITGA10 Validation Negative METMCC_603 7 100608370 100608370 A C MUC3A Validation Negative METMCC_603 19 9043462 9043462 C T MUC16 Validation Negative METMCC_603 16 22167238 22167238 G A VWA3A Validation Negative METMCC_603 11 4869964 4869964 G A OR51S1 NA NA NA 21 0 0% 96 10 9.43% NA NA NA 38 0 0% 113 11 8.87% NA NA NA 33 0 0% 252 24 8.70% NA NA NA 10 0 0% 414 73 14.99% NA NA NA 20 0 0% 182 15 NA NA NA 20 0 0% 276 51 15.60% NA NA NA 17 0 0% 378 45 10.64% NA NA NA 14 0 0% 380 33 NA NA NA 17 0 0% 383 49 11.34% NA NA NA 11 0 0% 360 51 12.41% NA NA NA 13 0 0% 538 86 13.78% TKTL1:NM_0011459 34:exon4:c.G403A:p. D135N,TKTL1:NM_0 nonsynonymo 01145933:exon5:c.G NA us SNV 553A:p.D185N,TKTL 1:NM_012253:exon5 :c.G571A:p.D191N NA NA 19 0 0% 236 30 11.28% NA NA NA 11 0 0% 396 45 10.20% NA NA NA 36 0 0% 135 12 NA NA NA 49 0 0% 107 12 10.08% NA NA NA 22 0 0% 302 27 8.21% NA NA NA 32 0 0% 282 30 9.62% NA NA rs737142 76 19 0 0% 368 38 9.36% NA NA NA 23 0 0% 103 10 8.85% NA NA NA 23 0 0% 157 23 12.78% rs200652 284 12 0 0% 208 27 11.49% KCNC1:NM_004976: nonsynonymo exon2:c.G1505A:p.G us SNV 502D NM_000268:exon10: c.8861G>A,NM_181830:e xon8:c.6371G>A,NM_181831:e xon8:c.6371G>A,NM_181829:e xon9:c.763splicing 1G>A,NM_181825:e xon10:c.8861G>A,NM_016418:e xon10:c.8861G>A,NM_181832:e xon10:c.8861G>A,NM_181828:e xon9:c.760-1G>A NM_001270408:exo n5:c.597+1G>A,NM_ 001270407:exon4:c. splicing 489+1G>A,NM_0212 19:exon5:c.597+1G> A NM_002808:exon5:c .480splicing 1G>A,NM_00127870 8:exon3:c.90-1G>A NM_003637:exon2:c splicing .53-1G>A NM_005960:exon7:c splicing .3934+1A>C NM_024690:exon7:c splicing .36068-1G>A NM_173615:exon33: splicing c.3569+1G>A stopgain ID=COSM1 OR51S1:NM_00100 354196;OC 4758:exon1:c.C475T CURENCE :p.R159X =2(large_in testine) 0.0002 7.61% 7.99% 8.16% Validation Negative METMCC_603 5 140474732 140474732 C T PCDHB2 stopgain Validation Negative METMCC_603 1 10714555 10714555 G A CASZ1 stopgain Validation Negative METMCC_603 1 37356632 37356632 G A GRIK3 stopgain Validation Negative METMCC_603 1 155296767 155296767 G A RUSC1 stopgain Validation Negative METMCC_603 2 96962390 G A SNRNP20 stopgain 0 Validation Negative METMCC_603 2 136574987 136574987 C T LCT stopgain Validation Negative METMCC_603 2 167056145 167056145 A T SCN9A stopgain Validation Negative METMCC_603 3 124692700 124692700 G A HEG1 stopgain Validation Negative METMCC_603 4 88047345 88047345 A T AFF1 stopgain Validation Negative METMCC_603 6 44224535 44224535 C T SLC35B2 stopgain 96962390 Validation Negative METMCC_603 7 24749924 24749924 G A DFNA5 stopgain Validation Negative METMCC_603 7 129909520 129909520 G A CPA2 stopgain Validation Negative METMCC_603 12 6562633 6562633 C T TAPBPL stopgain Validation Negative METMCC_603 12 49431121 49431121 G A KMT2D stopgain Validation Negative METMCC_603 15 43010263 43010263 C T STARD9 stopgain Validation Negative METMCC_603 16 26147540 26147540 C T HS3ST4 stopgain Validation Negative METMCC_603 17 4495731 4495731 C T SMTNL2 stopgain Validation Negative METMCC_603 17 74621964 74621964 C T ST6GALN stopgain AC1 Validation Negative METMCC_603 19 6665066 6665066 C T TNFSF14 stopgain Validation Negative METMCC_603 19 13386718 13386718 C T CACNA1A stopgain ID=COSM2 PCDHB2:NM_01893 24288;OC 6:exon1:c.C358T:p. NA CURENCE Q120X =1(skin) NA 30 0 0% 213 18 NA NA 19 0 0% 601 75 11.09% NA NA 32 0 0% 316 24 7.06% NA NA 18 0 0% 299 29 8.84% NA NA NA 28 0 0% 205 15 6.82% NA NA NA 13 0 0% 276 23 7.69% NA NA NA 31 0 0% 61 NA NA NA 45 0 0% 132 14 9.59% NA NA NA 25 0 0% 123 10 7.52% NA NA NA 14 0 0% 248 27 9.82% rs200205 042 19 0 0% 192 22 10.28% CASZ1:NM_0010798 43:exon10:c.C1759T :p.Q587X,CASZ1:N NA M_017766:exon10:c. C1759T:p.Q587X GRIK3:NM_000831: exon2:c.C181T:p.R6 NA 1X RUSC1:NM_001278 228:exon6:c.G833A: p.W278X,RUSC1:N M_001278230:exon6 :c.G851A:p.W284X, RUSC1:NM_001105 205:exon7:c.G1028A :p.W343X,RUSC1:N M_001278227:exon7 :c.G752A:p.W251X, NA RUSC1:NM_001278 229:exon7:c.G533A: p.W178X,RUSC1:N M_014328:exon7:c. G851A:p.W284X,RU SC1:NM_001105203 :exon8:c.G2258A:p. W753X,RUSC1:NM_ 001105204:exon8:c. G1940A:p.W647X SNRNP200:NM_014 014:exon13:c.C1555 T:p.R519X LCT:NM_002299:exo n6:c.G1631A:p.W54 4X SCN9A:NM_002977: exon27:c.T4971A:p. Y1657X HEG1:NM_020733:e xon16:c.C3871T:p.Q 1291X AFF1:NM_005935:ex on13:c.A2647T:p.K8 83X,AFF1:NM_0011 66693:exon14:c.A26 68T:p.K890X SLC35B2:NM_17814 8:exon2:c.G92A:p.W 31X DFNA5:NM_001127 454:exon5:c.C289T: p.R97X,DFNA5:NM_ 001127453:exon6:c. NA C781T:p.R261X,DFN A5:NM_004403:exon 6:c.C781T:p.R261X CPA2:NM_001869:e xon3:c.G165A:p.W5 5X TAPBPL:NM_01800 9:exon3:c.C316T:p. Q106X KMT2D:NM_003482: exon34:c.C10018T:p .Q3340X STARD9:NM_02075 9:exon30:c.C13648T :p.Q4550X HS3ST4:NM_006040 :exon2:c.C1342T:p. Q448X SMTNL2:NM_00111 4974:exon2:c.C475T :p.Q159X,SMTNL2:N M_198501:exon2:c. C43T:p.Q15X ST6GALNAC1:NM_0 18414:exon8:c.G154 2A:p.W514X,ST6GA LNAC1:NM_0012891 07:exon9:c.G1146A: p.W382X TNFSF14:NM_00380 7:exon5:c.G594A:p. W198X,TNFSF14:N M_172014:exon5:c. G486A:p.W162X CACNA1A:NM_0011 27221:exon24:c.G39 38A:p.W1313X,CAC NA1A:NM_00112722 2:exon24:c.G3935A: p.W1312X 0.0002 7.79% 16 20.78% NA NA rs145849 439 30 0 0% 225 17 7.02% NA NA NA 12 0 0% 296 27 8.36% NA NA NA 12 0 0% 271 17 5.90% NA NA NA 11 0 0% 360 46 11.33% NA NA NA 15 0 0% 178 14 7.29% NA NA NA 12 0 0% 160 17 9.60% NA NA NA 14 0 0% 216 23 9.62% NA NA NA 16 0 0% 266 24 8.28% NA NA NA 18 0 0% 302 40 11.70% Validation Negative METMCC_603 19 15769074 15769074 G A CYP4F3 stopgain Validation Negative METMCC_603 20 30409531 30409531 C T MYLK2 stopgain Validation Negative METMCC_603 20 62038485 62038485 G A KCNQ2 stopgain Validation Negative METMCC_603 X 10077939 10077939 C T WWC3 stopgain Validation Negative METMCC_603 X 39933733 39933733 C T BCOR stopgain Validation Negative METMCC_603 X 140995372 140995372 C T MAGEC1 stopgain Validation Negative METMCC_603 X 153670502 153670502 C T GDI1 stopgain METMCC_603 X 70149849 70149849 C METMCC_603 2 88747830 88747830 G METMCC_603 3 17051183 17051183 G METMCC_603 5 120021926 120021926 C METMCC_603 7 100349950 100349950 C METMCC_603 7 150713598 150713598 C T A A T T T SLC7A3 FOXI3 PLCL2 PRR16 ZAN ATG9B unknown unknown unknown unknown unknown unknown Validation Validation Validation Validation Validation Validation Negative Negative Negative Negative Negative Negative CYP4F3:NM_000896 :exon10:c.G1116A:p. W372X,CYP4F3:NM _001199208:exon10: c.G1116A:p.W372X, CYP4F3:NM_001199 209:exon10:c.G1116 A:p.W372X MYLK2:NM_033118: exon4:c.C763T:p.Q2 55X KCNQ2:NM_004518: exon15:c.C2047T:p. Q683X,KCNQ2:NM_ 172106:exon16:c.C2 077T:p.Q693X,KCN Q2:NM_172108:exon 16:c.C2038T:p.Q680 X,KCNQ2:NM_1721 07:exon17:c.C2131T :p.Q711X WWC3:NM_015691: exon9:c.C853T:p.Q2 85X BCOR:NM_0011233 83:exon4:c.G866A:p. W289X,BCOR:NM_0 01123384:exon4:c.G 866A:p.W289X,BCO R:NM_001123385:ex on4:c.G866A:p.W28 9X,BCOR:NM_0177 45:exon4:c.G866A:p. W289X MAGEC1:NM_00546 2:exon4:c.C2182T:p. Q728X GDI1:NM_001493:ex on9:c.C1036T:p.Q34 6X NA UNKNOWN UNKNOWN UNKNOWN UNKNOWN UNKNOWN NA NA NA 10 0 0% 139 11 7.33% NA NA NA 11 0 0% 159 22 12.15% NA NA NA 13 0 0% 321 33 NA NA NA 10 0 0% 165 25 13.16% NA NA NA 13 0 0% 478 45 NA NA NA 16 0 0% 221 29 11.60% NA NA NA 17 0 0% 381 45 10.56% NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 26 15 35 22 22 17 0 0 0 0 0 0 0% 0% 0% 0% 0% 0% 181 175 62 90 133 463 18 9.05% 20 10.26% 12 16.22% 11 10.89% 13 8.90% 45 8.86% NA 85 0 0% 224 12 5.08% 27 0 0% 175 17 8.85% 19 0 0% 184 18 8.91% 20 13 10 0 0 0 0% 0% 0% 120 455 433 12 9.09% 64 12.33% 84 16.25% 22 0 0% 156 13 32 0 0% 175 27 13.37% 9.32% 8.60% Validation Negative METMCC_603 10 133753685 133753685 C T PPP2R2D unknown UNKNOWN NA NA Validation Negative METMCC_603 13 99462452 99462452 G A DOCK9 unknown UNKNOWN NA NA Validation Negative METMCC_603 15 30011099 30011099 G A TJP1 unknown UNKNOWN NA Validation Negative METMCC_603 Validation Negative METMCC_603 Validation Negative METMCC_603 15 15 19 33941301 77906570 15224496 33941301 C 77906570 G 15224496 G T A A RYR3 LINGO1 SYDE1 unknown unknown unknown UNKNOWN UNKNOWN UNKNOWN NA NA NA Validation Negative METMCC_603 19 55359255 55359255 C G KIR2DS4 unknown UNKNOWN NA Validation Negative METMCC_603 20 61473414 61473414 T A TCFL5 NA 9 139405604 139405604 C T nonsynonymo NOTCH1 us SNV UNKNOWN NOTCH1:NM_01761 7:exon16:c.G2587A: p.G863R MUC2:NM_002457:e xon30:c.C5161A:p.P 1721T MUC2:NM_002457:e xon30:c.C4760G:p.T 1587S MUC2:NM_002457:e xon30:c.C4829G:p.T 1610S MUC2:NM_002457:e xon30:c.C5183G:p.T 1728S EPPK1:NM_031308: exon2:c.C6866T:p.A 2289V KCNJ18:NM_001194 958:exon3:c.G106T: p.V36L,KCNJ12:NM _021012:exon3:c.G1 06T:p.V36L FAT1:NM_005245:ex on10:c.A4813G:p.N1 605D NA rs353922 0.000399 54 NA NA NA NA NA NA rs113047 NA 1 NA NA NA NA NA 6 0 0% 452 51 11.28% NA NA NA 11 0 0% 318 18 5.36% NA NA NA 21 0 0% 415 37 8.19% NA NA rs200689 287 19 0 0% 298 10 3.25% NA NA rs113138 128 16 0 0% 361 22 5.74% NA NA rs374977 437 14 0 0% 2244 147 6.15% NA NA rs748802 80 10 0 0% 1546 137 8.14% rs683693 5 11 0 0% 51 54 51.43% UNKNOWN 10 0 0% 210 65 23.64% 1 0.36% 469 18 3.70% 4 6.56% Validation Negative METMCC_603 unknown Validation positive METMCC_578 11 1093342 1093342 C A MUC2 nonsynonymo us SNV Validation positive METMCC_578 11 1092941 1092941 C G MUC2 nonsynonymo us SNV Validation positive METMCC_578 11 1093010 1093010 C G MUC2 nonsynonymo us SNV Validation positive METMCC_578 11 1093364 1093364 C G MUC2 nonsynonymo us SNV Validation positive METMCC_578 8 1.45E+08 1.45E+08 G A EPPK1 nonsynonymo us SNV Validation positive METMCC_578 17 21318760 21318760 G T KCNJ12,K nonsynonymo CNJ18 us SNV Validation positive METMCC_578 4 1.88E+08 1.88E+08 T C FAT1 nonsynonymo us SNV Validation positive METMCC_578 6 57467107 57467107 C T PRIM2 unknown NA NA rs988575 1 56468448 OR9G1:NM_001005 213:exon1:c.585_58 OR9G1,O nonframeshift 56468449 AA GT 6GT,OR9G9:NM_00 NA R9G9 substitution 1013358:exon1:c.58 5_586GT NA NA Validation positive MCC_661 11 Validation positive MCC_661 1 120611960 120611960 C T NOTCH2:NM_00120 0001:exon1:c.G61A: nonsynonymo NOTCH2 p.A21T,NOTCH2:NM us SNV _024408:exon1:c.G6 1A:p.A21T Validation positive MCC_661 1 228345606 228345606 C A GJC2 NA 0.01278 ID=COSM1 600651;OC CURENCE =1(thyroid), NA 3(breast),1 3(urinary_tr act),2(liver) GJC2:NM_020435:e nonsynonymo xon2:c.C147A:p.D49 NA us SNV E NA rs139076 095 NA 274 9 0 0% 57 190 0 0% 392 7.69% 121 23.59% Validation positive MCC_661 5 79950715 79950715 G C MSH3 Validation positive MCC_661 5 79950718 79950718 G C MSH3 Validation positive MCC_661 6 5086303 5086303 C T PPP1R3G Validation positive MCC_661 6 30996702 30996702 T C MUC22 Validation positive MCC_661 6 30996825 30996825 T C MUC22 Validation positive MCC_661 6 30996831 30996831 T C MUC22 Validation positive MCC_661 7 100643292 100643292 G A MUC12 Validation positive MCC_661 8 11189184 11189184 C T SLC35G5 Validation positive MCC_661 8 75157202 75157202 G C JPH1 Validation positive MCC_661 11 56468452 56468452 A C OR9G1,O R9G9 Validation positive MCC_661 12 50745783 50745783 T A FAM186A Validation positive MCC_661 14 23885445 23885445 C T MYH7 Validation positive MCC_661 16 97498 97498 C G POLR3K Validation positive MCC_661 19 501801 501801 A C MADCAM 1 Validation positive MCC_661 19 746737 746737 G A PALM Validation positive MCC_661 19 50376321 50376321 G A AKT1S1 Validation positive MCC_661 21 45837839 45837839 C T TRPM2 Validation positive MCC_661 22 46759079 46759079 G A CELSR1 MSH3:NM_002439:e nonsynonymo xon1:c.G169C:p.A57 us SNV P MSH3:NM_002439:e nonsynonymo xon1:c.G172C:p.A58 us SNV P PPP1R3G:NM_0011 nonsynonymo 45115:exon1:c.C584 us SNV T:p.S195F MUC22:NM_001198 nonsynonymo 815:exon3:c.T3494C us SNV :p.I1165T MUC22:NM_001198 nonsynonymo 815:exon3:c.T3617C us SNV :p.I1206T MUC22:NM_001198 nonsynonymo 815:exon3:c.T3623C us SNV :p.V1208A MUC12:NM_001164 nonsynonymo 462:exon2:c.G9448A us SNV :p.G3150S SLC35G5:NM_0540 nonsynonymo 28:exon1:c.C569T:p. us SNV T190I JPH1:NM_020647:ex nonsynonymo on4:c.C1467G:p.S48 us SNV 9R OR9G1:NM_001005 213:exon1:c.A589C: nonsynonymo p.M197L,OR9G9:NM us SNV _001013358:exon1:c .A589C:p.M197L FAM186A:NM_0011 nonsynonymo 45475:exon4:c.A483 us SNV 2T:p.Q1611L MYH7:NM_000257:e nonsynonymo xon34:c.G4721A:p.R us SNV 1574Q POLR3K:NM_01631 nonsynonymo 0:exon3:c.G259C:p. us SNV A87P MADCAM1:NM_130 nonsynonymo 760:exon4:c.A800C: us SNV p.K267T PALM:NM_0010401 34:exon8:c.G955A:p. nonsynonymo G319R,PALM:NM_0 us SNV 02579:exon9:c.G108 7A:p.G363R NA NA rs144776 112 106 2 1.85% 262 22 7.75% NA NA rs148550 291 101 2 1.94% 261 21 7.45% NA NA NA NA NA rs200849 001 NA NA NA 0% 82 137 2 1.44% 635 44 6.48% rs199901 342 206 2 0.96% 1000 39 3.75% NA NA 213 2 0.93% 999 40 3.85% NA NA rs151194 284 37 0 0% 74 10 11.90% NA NA rs115295 428 48 0 0% 74 10 11.90% NA NA NA 163 0 0% 242 13 5.10% NA NA rs799702 35 265 0 0% 475 17 3.46% NA NA rs373687 267 92 1 1.08% 283 27 8.71% NA NA NA 86 0 0% 106 53 33.33% NA NA NA 309 0 0% 544 81 12.96% NA NA rs764762 34 131 1 0.76% 162 10 NA NA NA 99 0 0% 252 81 24.32% AKT1S1:NM_001098 632:exon2:c.C232T: p.P78S,AKT1S1:NM _001098633:exon2:c .C232T:p.P78S,AKT nonsynonymo 1S1:NM_001278159: NA us SNV exon2:c.C232T:p.P7 8S,AKT1S1:NM_001 278160:exon2:c.C23 2T:p.P78S,AKT1S1: NM_032375:exon2:c .C292T:p.P98S NA NA 130 0 0% 229 49 17.63% NA NA 170 0 0% 458 149 24.55% NA NA 22 0 0% 35 14 28.57% NA NA 146 0 0% 370 85 18.68% 0 0% 128 17 11.72% 1 0.76% 190 10 TRPM2:NM_003307: nonsynonymo exon21:c.C3176T:p. NA us SNV T1059M CELSR1:NM_01424 nonsynonymo 6:exon35:c.C9041T: NA us SNV p.P3014L 13 0 15 15.46% 5.81% Validation positive MCC_661 14 99640631 99640631 G A BCL11B stopgain BCL11B:NM_001282 238:exon3:c.C2326T :p.Q776X,BCL11B:N M_022898:exon3:c. C2329T:p.Q777X,BC NA L11B:NM_00128223 7:exon4:c.C2539T:p. Q847X,BCL11B:NM_ 138576:exon4:c.C25 42T:p.Q848X Validation positive MCC_661 19 33490585 33490585 G A RHPN2 stopgain RHPN2:NM_033103: exon10:c.C1132T:p. NA Q378X NA rs786154 54 48 Validation positive MCC_661 7 72081774 72081774 A G TYW1B unknown UNKNOWN NA rs301585 4 131 Validation positive MCC_614 1 159558338 159558338 G A APCS NA NA 41 0 0% 32 17 34.69% Validation positive MCC_614 2 207175965 207175965 A G ZDBF2 NA NA 67 0 0% 22 14 38.89% Validation positive MCC_614 3 C SATB1 NA NA 107 0 0% 35 25 41.67% 18435958 18435958 G NA APCS:NM_001639:e nonsynonymo xon2:c.G512A:p.G17 NA us SNV 1E ZDBF2:NM_020923: exon5:c.A6713G:p.Y nonsynonymo 2238C,ZDBF2:NM_0 NA us SNV 01285549:exon7:c.A 6707G:p.Y2236C SATB1:NM_0011310 10:exon7:c.C1202G: p.T401S,SATB1:NM nonsynonymo _001195470:exon7:c NA us SNV .C1202G:p.T401S,S ATB1:NM_002971:e xon7:c.C1202G:p.T4 01S 5% Validation positive MCC_614 4 2895809 2895809 G T Validation positive MCC_614 4 164394568 164394568 C T Validation positive MCC_614 5 176016162 176016162 A G Validation positive MCC_614 6 168377271 168377271 G A Validation positive MCC_614 7 100645834 100645834 A G Validation positive MCC_614 7 150439844 150439844 T C Validation positive MCC_614 8 81399146 A G Validation positive MCC_614 9 135984112 135984112 G T Validation positive MCC_614 Validation positive Validation positive Validation positive Validation positive Validation positive Validation positive Validation positive Validation positive Validation positive MCC_614 MCC_614 MCC_614 MCC_614 MCC_614 MCC_614 MCC_614 MCC_614 MCC_614 11 11 11 11 11 11 11 11 11 11 81399146 57970974 57971107 57971497 57971509 57971518 57982373 57982413 57982519 57982667 57982889 57970974 A 57971107 C 57971497 C 57971509 C 57971518 T 57982373 A 57982413 C 57982519 G 57982667 C 57982889 A C T T G C G T C G G ADD1 ADD1:NM_001119:e xon5:c.G580T:p.A19 4S,ADD1:NM_01418 9:exon5:c.G580T:p. A194S,ADD1:NM_01 nonsynonymo 4190:exon5:c.G580T NA us SNV :p.A194S,ADD1:NM_ 176801:exon5:c.G58 0T:p.A194S,ADD1:N M_001286645:exon6 :c.G580T:p.A194S NA NA 36 0 0% 11 10 47.62% NA NA NA 34 0 0% 36 12 NA NA NA 26 0 0% 89 30 25.21% NA NA rs617401 40 11 0 0% 296 14 NA NA rs144528 934 105 1 0.94% 124 14 10.14% NA NA NA 55 0 0% 295 10 3.28% NA NA NA 15 0 0% 128 10 7.25% NA NA NA 16 0 0% 49 NA NA NA 58 0 0% 456 18 3.80% OR1S2 ID=COSM1 OR1S2:NM_001004 nonsynonymo 293389;OC 459:exon1:c.G547A: NA us SNV CURENCE p.D183N =2(cervix) rs617630 08 44 0 0% 475 18 3.65% OR1S2 ID=COSM1 OR1S2:NM_001004 nonsynonymo 293395;OC 459:exon1:c.G157A: NA us SNV CURENCE p.V53I =2(cervix) NA 58 0 0% 673 27 3.86% OR1S2 ID=COSM9 OR1S2:NM_001004 28785;OC nonsynonymo 459:exon1:c.G145C: CURENCE NA us SNV p.V49L =1(endome trium) NA 58 0 0% 700 24 3.31% OR1S2 ID=COSM1 OR1S2:NM_001004 nonsynonymo 293397;OC 459:exon1:c.A136G: NA us SNV CURENCE p.S46G =1(cervix) NA 63 0 0% 711 27 3.66% NA NA 67 0 0% 692 26 3.62% NA rs140365 237 58 0 0% 464 19 3.93% rs375440 178 45 0 0% 497 17 3.31% NA 62 0 0% 548 26 4.53% 0.0015974 NA 77 0 0% 405 14 3.34% TKTL2:NM_032136: nonsynonymo TKTL2 exon1:c.G319A:p.D1 us SNV 07N CDHR2:NM_001171 976:exon22:c.A2987 nonsynonymo CDHR2 G:p.D996G,CDHR2: us SNV NM_017675:exon22: c.A2987G:p.D996G HGC6.3:NM_001129 nonsynonymo HGC6.3 895:exon1:c.C62T:p. us SNV S21F MUC12:NM_001164 nonsynonymo MUC12 462:exon2:c.A11990 us SNV G:p.H3997R GIMAP5:NM_018384 :exon3:c.T617C:p.V2 GIMAP1nonsynonymo 06A,GIMAP1GIMAP5, us SNV GIMAP5:NM_001199 GIMAP5 577:exon6:c.T1229C :p.V410A ZBTB10:NM_001105 539:exon1:c.A101G: nonsynonymo ZBTB10 p.E34G,ZBTB10:NM us SNV _023929:exon1:c.A1 01G:p.E34G RALGDS:NM_00104 2368:exon5:c.C561A :p.H187Q,RALGDS: NM_001271774:exo n5:c.C639A:p.H213 Q,RALGDS:NM_001 nonsynonymo RALGDS 271775:exon5:c.C72 us SNV 3A:p.H241Q,RALGD S:NM_001271776:ex on5:c.C690A:p.H230 Q,RALGDS:NM_006 266:exon5:c.C726A: p.H242Q OR1S2:NM_001004 nonsynonymo OR1S2 459:exon1:c.T680G: us SNV p.I227S ID=COSM4 15539;OC CURENCE =1(urinary_ tract),1(cer vix) ID=COSM4 15538;OC CURENCE =1(endome trium) ID=COSM3 86417;OC CURENCE =1(lung),2( cervix),3(e ndometriu m) ID=COSM9 28800;OC CURENCE =2(cervix), 1(endomet rium) OR1S1 OR1S1:NM_001004 nonsynonymo 458:exon1:c.A157G: us SNV p.I53V OR1S1 OR1S1:NM_001004 nonsynonymo 458:exon1:c.C197T: us SNV p.T66M OR1S1 OR1S1:NM_001004 nonsynonymo 458:exon1:c.G303C: us SNV p.K101N OR1S1 OR1S1:NM_001004 nonsynonymo 458:exon1:c.C451G: us SNV p.P151A OR1S1 OR1S1:NM_001004 nonsynonymo 458:exon1:c.A673G: NA us SNV p.T225A 0.0001997 NA 25% 4.52% 27 35.53% Validation positive MCC_614 11 57982994 57982994 G A OR1S1 Validation positive MCC_614 11 57983019 57983019 T C OR1S1 Validation positive MCC_614 12 50745703 50745703 T G FAM186A Validation positive MCC_614 16 88907424 88907424 T A GALNS Validation positive MCC_614 17 46608203 46608203 A G HOXB1 Validation positive MCC_614 17 80367275 80367275 T C OGFOD3 Validation positive MCC_614 18 44555309 44555309 G C TCEB3C, TCEB3CL Validation positive MCC_614 19 17397481 17397481 G T ANKLE1 Validation positive MCC_614 19 48305538 48305538 A G TPRX1 Validation positive MCC_614 19 48305666 48305666 A C TPRX1 Validation positive MCC_614 19 54966557 54966557 G C LENG8 Validation positive MCC_614 X 23398302 23398302 G A PTCHD1 Validation positive MCC_614 X 26157771 26157771 G A MAGEB1 8 Validation positive MCC_614 21720870 21720870 G A ZNF429 Validation positive MCC_614 9 140918181 140918181 A G CACNA1B Validation positive MCC_614 57982519 G C OR1S1 Validation positive MCC_614 150155676 150155676 C T HMGB3 19 11 X 57982519 Validation Negative MCC_611 1 1271677 Validation Negative MCC_611 1 22213825 Validation Negative MCC_611 1 153904907 Validation Negative MCC_611 8 11058782 Validation Negative MCC_611 11 5799452 Validation Negative MCC_611 11 113934857 Validation Negative MCC_611 17 41836020 Validation Negative MCC_611 17 48268189 Validation Negative MCC_611 19 855960 Validation Negative MCC_611 19 6710676 ID=COSM1 OR1S1:NM_001004 nonsynonymo 293414;OC 458:exon1:c.G778A: NA us SNV CURENCE p.V260I =2(cervix) ID=COSM3 02806;OC OR1S1:NM_001004 CURENCE nonsynonymo 458:exon1:c.T803C: =1(central_ NA us SNV p.I268T nervous_sy stem),1(cer vix) FAM186A:NM_0011 nonsynonymo 45475:exon4:c.A491 NA NA us SNV 2C:p.T1638P GALNS:NM_000512: nonsynonymo exon4:c.A398T:p.Y1 NA NA us SNV 33F HOXB1:NM_002144: nonsynonymo exon1:c.T64C:p.Y22 NA NA us SNV H OGFOD3:NM_02464 8:exon4:c.A392G:p. nonsynonymo K131R,OGFOD3:NM NA 0.0165735 us SNV _175902:exon4:c.A3 92G:p.K131R TCEB3CL:NM_0011 00817:exon1:c.C905 nonsynonymo G:p.A302G,TCEB3C NA NA us SNV :NM_145653:exon1: c.C905G:p.A302G ANKLE1:NM_00127 nonsynonymo 8444:exon8:c.G1913 NA NA us SNV T:p.C638F TPRX1:NM_198479: nonsynonymo exon2:c.T730C:p.S2 NA NA us SNV 44P TPRX1:NM_198479: nonsynonymo NA exon2:c.T602G:p.V2 NA us SNV 01G LENG8:NM_052925: nonsynonymo exon8:c.G836C:p.R2 NA 0.0169728 us SNV 79P PTCHD1:NM_17349 nonsynonymo 5:exon2:c.G946A:p. NA NA us SNV G316R MAGEB18:NM_1736 nonsynonymo 99:exon2:c.G669A:p. NA NA us SNV M223I ID=COSM1 559535;OC CURENCE ZNF429:NM_001001 nonsynonymo =1(urinary_ 415:exon4:c.G2015A 0.0011981 us SNV tract),32(ce :p.R672H ntral_nervo us_system ) CACNA1B:NM_0007 ID=COSM3 18:exon19:c.A2986G 750165;OC nonsynonymo :p.T996A,CACNA1B: CURENCE 0.10643 us SNV NM_001243812:exo =6(large_in n19:c.A2986G:p.T99 testine) 6A ID=COSM3 86417;OC OR1S1:NM_001004 CURENCE nonsynonymo 458:exon1:c.G303C: =1(lung),2( 0.0001997 us SNV p.K101N cervix),3(e ndometriu m) unknown UNKNOWN DVL1:NM_004421:e nonframeshift 1271678 GG AT DVL1 xon15:c.1857_1858A substitution T HSPG2:NM_001291 860:exon9:c.960_96 nonframeshift 22213826 GG AA HSPG2 1TT,HSPG2:NM_00 substitution 5529:exon9:c.960_9 61TT DENND4B:NM_0148 DENND4 nonframeshift 153904908 GG AA 56:exon24:c.3768_3 B substitution 769TT nonframeshift XKR6:NM_173683:e 11058783 CC TT XKR6 substitution xon1:c.66_67AA OR52N5:NM_00100 nonframeshift 5799453 GG AA OR52N5 1922:exon1:c.412_4 substitution 13TT ZBTB16:NM_001018 011:exon2:c.835_83 nonframeshift 113934858 GG AA ZBTB16 6AA,ZBTB16:NM_00 substitution 6006:exon2:c.835_8 36AA nonframeshift SOST:NM_025237:e 41836021 CT TA SOST substitution xon1:c.89_90TA COL1A1:NM_00008 nonframeshift 48268190 GG AA COL1A1 8:exon33:c.2331_23 substitution 32TT nonframeshift ELANE:NM_001972: 855961 GG AA ELANE substitution exon5:c.600_601AA nonframeshift C3:NM_000064:exon 6710677 CC TT C3 substitution 13:c.1659_1660AA NA 54 0 0% 323 11 3.29% rs141964 803 51 0 0% 244 14 5.43% rs201307 392 35 0 0% 109 15 12.10% NA 21 0 0% 145 68 31.92% rs129505 37 25 0 0% 266 11 rs111690 356 23 0 0% 42 NA 33 0 0% 287 19 6.21% rs146558 1 24 0 0% 120 11 8.40% NA 18 0 0% 219 11 4.78% rs200748 871 19 0 0% 278 11 3.81% rs350618 54 12 0 0% 114 31 21.38% NA 43 0 0% 37 17 31.48% NA 48 0 0% 33 24 42.11% rs201032 310 16 0 0% 59 4 rs111373 42 6 0 0% 57 8 12.31% rs375440 178 45 0 0% 497 3.97% 20 32.26% 17 6.35% 3.31% NA NA rs367685 246 46 0 0% 98 82 45.56% NA NA NA 34 0 0% 227 110 32.64% NA NA NA 83 0 0% 42 14 NA NA NA 19 0 0% 13 14 51.85% NA NA NA 29 0 0% 71 64 47.41% NA NA NA 129 0 0% 1 10 90.91% NA NA NA 67 0 0% 27 26 49.06% NA NA NA 77 0 0% 21 22 51.16% NA NA NA 88 0 0% 37 22 37.29% NA NA NA 52 0 0% 25 16 39.02% NA NA NA 26 0 0% 15 13 46.43% 25% Validation Negative MCC_611 19 17322729 Validation Negative MCC_611 20 62521330 Validation Negative MCC_611 1 914836 MYO9B:NM_004145: nonframeshift exon40:c.6084_6085 NA substitution GT TPD52L2:NM_00124 nonframeshift 62521331 AC TT TPD52L2 3895:exon6:c.604_6 NA substitution 05TT 17322730 CC GT MYO9B 914836 G A Validation Negative MCC_611 1 1222324 1222324 C T Validation Negative MCC_611 1 3679787 3679787 G A Validation Negative MCC_611 1 6211157 6211157 G A Validation Negative MCC_611 1 9775925 9775925 C T Validation Negative MCC_611 1 11826648 11826648 G A Validation Negative MCC_611 1 16356232 16356232 A T Validation Negative MCC_611 1 22154618 22154618 G A PERM1 1 22168756 22168756 G A HSPG2 Validation Negative MCC_611 1 26356116 26356116 G A EXTL1 Validation Negative MCC_611 1 45297956 45297956 G A Validation Negative MCC_611 1 110300592 110300592 A T Validation Negative MCC_611 1 145567703 145567703 G A 1 150705587 150705587 G A Validation Negative MCC_611 1 153920755 153920755 C A Validation Negative MCC_611 1 156715107 156715107 A G Validation Negative MCC_611 1 161254137 161254137 G A Validation Negative MCC_611 1 182429265 182429265 G A Validation Negative MCC_611 2 26203555 26203555 C T Validation Negative MCC_611 2 99439357 99439357 G A Validation Negative MCC_611 2 128388908 128388908 C T NA 31 0 0% 18 14 43.75% NA NA 40 0 0% 42 15 26.32% NA NA 46 0 0% 111 53 32.32% NA NA NA 60 1 1.64% 85 26 23.42% NA NA NA 50 0 0% 49 36 42.35% NA NA NA 54 0 0% 52 16 23.53% NA NA NA 65 0 0% 108 35 24.48% NA NA NA 56 0 0% 58 14 19.44% NA NA NA 45 0 0% 39 81 67.50% NA NA NA 56 0 0% 28 54 65.85% HSPG2:NM_001291 860:exon68:c.C9031 nonsynonymo T:p.P3011S,HSPG2: NA us SNV NM_005529:exon68: c.C9028T:p.P3010S NA NA 67 0 0% 13 13 NA NA NA 32 0 0% 89 32 26.45% NA NA NA 84 0 0% 30 16 34.78% NA NA NA 96 0 0% 1 11 91.67% NA NA NA 103 0 0% 9 11 ID=COSM8 95603;OC CURENCE NA =1(endome trium) rs143154 304 131 0 0% 26 22 45.83% NA NA NA 51 0 0% 32 15 31.91% NA NA NA 79 0 0% 48 52 NA NA NA 66 0 0% 23 16 41.03% NA NA NA 101 0 0% 18 20 52.63% NA NA NA 68 1 1.45% 29 20 40.82% NA NA NA 49 0 0% 52 57 52.29% NA NA NA 87 0 0% 43 22 33.85% PERM1:NM_001291 366:exon2:c.C1574T nonsynonymo :p.P525L,PERM1:N NA us SNV M_001291367:exon3 :c.C1292T:p.P431L SCNN1D:NM_00113 nonsynonymo SCNN1D 0413:exon8:c.C1088 us SNV T:p.S363L CCDC27:NM_15249 nonsynonymo CCDC27 2:exon7:c.G1070A:p. us SNV G357E CHD5:NM_015557:e nonsynonymo CHD5 xon7:c.C929T:p.S31 us SNV 0F PIK3CD:NM_005026 nonsynonymo PIK3CD :exon5:c.C389T:p.S1 us SNV 30F C1orf167:NM_00101 nonsynonymo C1orf167 0881:exon3:c.G805A us SNV :p.D269N CLCNKA:NM_00125 7139:exon12:c.A110 5T:p.M369L,CLCNK nonsynonymo A:NM_001042704:ex CLCNKA us SNV on13:c.A1234T:p.M4 12L,CLCNKA:NM_00 4070:exon13:c.A123 4T:p.M412L HSPG2:NM_001291 860:exon90:c.C1244 nonsynonymo 0T:p.P4147L,HSPG2 HSPG2 us SNV :NM_005529:exon90 :c.C12437T:p.P4146 L Validation Negative MCC_611 Validation Negative MCC_611 NA EXTL1:NM_004455: nonsynonymo exon3:c.G899A:p.S3 us SNV 00N PTCH2:NM_001166 292:exon3:c.C323T: nonsynonymo PTCH2 p.A108V,PTCH2:NM us SNV _003738:exon3:c.C3 23T:p.A108V EPS8L3:NM_024526 :exon9:c.T806A:p.F2 69Y,EPS8L3:NM_13 nonsynonymo EPS8L3 3181:exon9:c.T806A us SNV :p.F269Y,EPS8L3:N M_139053:exon9:c.T 809A:p.F270Y ANKRD35:NM_0012 80799:exon11:c.G26 nonsynonymo 83A:p.E895K,ANKR ANKRD35 us SNV D35:NM_144698:exo n13:c.G2953A:p.E98 5K CTSS:NM_00119973 9:exon7:c.C781T:p.R nonsynonymo CTSS 261W,CTSS:NM_00 us SNV 4079:exon8:c.C931T :p.R311W CRTC2:NM_181715: nonsynonymo CRTC2 exon14:c.G1912T:p. us SNV V638L HDGF:NM_0011260 50:exon2:c.T194C:p. F65S,HDGF:NM_00 nonsynonymo HDGF 1126051:exon2:c.T1 us SNV 25C:p.F42S,HDGF:N M_004494:exon2:c.T 146C:p.F49S PCP4L1:NM_001102 nonsynonymo PCP4L1 566:exon3:c.G73A:p. us SNV G25S RGSL1:NM_001137 nonsynonymo RGSL1 669:exon4:c.G298A: us SNV p.G100R KIF3C:NM_002254:e nonsynonymo KIF3C xon1:c.G1232A:p.R4 us SNV 11K KIAA1211L:NM_207 KIAA1211 nonsynonymo 362:exon7:c.C1379T L us SNV :p.P460L MYO7B:NM_001080 nonsynonymo MYO7B 527:exon36:c.C4987 us SNV T:p.L1663F 50% 55% 52% Validation Negative MCC_611 2 168114933 168114933 G A Validation Negative MCC_611 3 38591907 38591907 C T Validation Negative MCC_611 3 43074563 43074563 C T XIRP2:NM_0011991 45:exon8:c.G1211A: p.G404E,XIRP2:NM_ nonsynonymo 001079810:exon10:c XIRP2 us SNV .G1877A:p.G626E,XI RP2:NM_001199143 :exon11:c.G1976A:p. G659E SCN5A:NM_001099 405:exon27:c.G5902 A:p.D1968N,SCN5A: NM_001160161:exo n27:c.G5794A:p.D19 32N,SCN5A:NM_000 335:exon28:c.G5953 nonsynonymo A:p.D1985N,SCN5A: SCN5A us SNV NM_001099404:exo n28:c.G5956A:p.D19 86N,SCN5A:NM_001 160160:exon28:c.G5 857A:p.D1953N,SCN 5A:NM_198056:exon 28:c.G5956A:p.D198 6N FAM198A:NM_0011 nonsynonymo FAM198A 29908:exon2:c.C808 us SNV T:p.R270C Validation Negative MCC_611 3 44945471 44945471 G A TGM4 Validation Negative MCC_611 3 48677669 48677669 G A CELSR3 Validation Negative MCC_611 3 48699101 48699101 G A CELSR3 Validation Negative MCC_611 3 50313863 50313863 C T SEMA3B Validation Negative MCC_611 3 129249805 129249805 G A RHO Validation Negative MCC_611 4 25258259 25258259 T A PI4K2B Validation Negative MCC_611 4 48492339 48492339 G A Validation Negative MCC_611 Validation Negative MCC_611 4 71347213 71347213 C 4 126238911 126238911 G T A NA NA NA 243 0 0% 37 16 30.19% ID=COSM2 26069;OC NA CURENCE =1(NS) NA 82 0 0% 10 14 58.33% 0.0002 NA 68 0 0% 10 13 56.52% NA 75 0 0% 12 10 45.45% NA ID=COSM4 TGM4:NM_003241:e nonsynonymo 46555;OC xon9:c.G1067A:p.R3 NA us SNV CURENCE 56Q =1(breast) CELSR3:NM_00140 nonsynonymo 7:exon34:c.C9349T: us SNV p.R3117W CELSR3:NM_00140 nonsynonymo 7:exon1:c.C967T:p.P us SNV 323S SEMA3B:NM_00129 0062:exon11:c.C947 nonsynonymo T:p.S316L,SEMA3B: us SNV NM_001290063:exo n11:c.C947T:p.S316 L RHO:NM_000539:ex nonsynonymo on2:c.G448A:p.E150 us SNV K PI4K2B:NM_018323: nonsynonymo exon4:c.T719A:p.V2 us SNV 40E NA NA NA 44 0 0% 49 19 27.94% NA NA NA 55 0 0% 44 37 45.68% NA NA NA 48 0 0% 21 10 32.26% NA NA rs104893 791 66 0 0% 19 13 40.62% NA NA NA 99 0 0% 0 16 ZAR1 nonsynonymo ZAR1:NM_175619:e NA us SNV xon1:c.G31A:p.G11S NA NA 34 0 0% 1 51 98.08% MUC7 MUC7:NM_152291:e xon3:c.C752T:p.S25 1F,MUC7:NM_00114 nonsynonymo 5006:exon4:c.C752T NA us SNV :p.S251F,MUC7:NM _001145007:exon4:c .C752T:p.S251F NA NA 102 0 0% 55 41 42.71% FAT4 FAT4:NM_00129128 5:exon1:c.G1345A:p. G449S,FAT4:NM_00 nonsynonymo 1291303:exon1:c.G1 NA us SNV 345A:p.G449S,FAT4 :NM_024582:exon1: c.G1345A:p.G449S NA NA 61 0 0% 40 11 21.57% NA NA NA 140 0 0% 17 19 52.78% NA NA NA 105 0 0% 7 31 81.58% Validation Negative MCC_611 5 55204411 55204411 G A IL31RA nonsynonymo us SNV Validation Negative MCC_611 6 22287750 22287750 C T PRL nonsynonymo us SNV Validation Negative MCC_611 6 33157223 33157223 G A COL11A2 nonsynonymo us SNV Validation Negative MCC_611 6 43163867 43163867 G A CUL9 nonsynonymo us SNV Validation Negative MCC_611 6 43591678 43591678 C T GTPBP2 nonsynonymo us SNV Validation Negative MCC_611 7 1515670 1515670 G T INTS1 nonsynonymo us SNV IL31RA:NM_001297 570:exon11:c.G1673 A:p.G558E,IL31RA: NM_001297572:exo n11:c.G1247A:p.G41 6E PRL:NM_000948:ex on5:c.G565A:p.E189 K,PRL:NM_0011635 58:exon6:c.G565A:p. E189K COL11A2:NM_0011 63771:exon2:c.C106 T:p.R36W,COL11A2 :NM_080679:exon2: c.C106T:p.R36W,C OL11A2:NM_080680 :exon2:c.C106T:p.R3 6W,COL11A2:NM_0 80681:exon2:c.C106 T:p.R36W CUL9:NM_015089:e xon10:c.G2449A:p.D 817N GTPBP2:NM_00128 6216:exon8:c.G964A :p.E322K,GTPBP2:N M_019096:exon8:c. G1228A:p.E410K INTS1:NM_0010804 53:exon39:c.C5416A :p.L1806I NA 0.0002 100% rs118097 056 70 1 1.41% 33 26 44.07% NA NA NA 99 0 0% 12 12 50% NA NA NA 90 0 0% 17 17 50% NA NA NA 21 0 0% 43 35 44.87% Validation Negative MCC_611 7 72849867 72849867 C A FZD9 Validation Negative MCC_611 7 100652378 100652378 G A MUC12 Validation Negative MCC_611 7 144098460 144098460 G A NOBOX Validation Negative MCC_611 7 150767979 150767979 C T SLC4A2 Validation Negative MCC_611 8 3224583 3224583 G A CSMD1 Validation Negative MCC_611 8 3351169 3351169 C T CSMD1 Validation Negative MCC_611 8 92365210 92365210 G A Validation Negative MCC_611 8 145641571 145641571 C T Validation Negative MCC_611 8 145678683 145678683 G A Validation Negative MCC_611 9 123629197 123629197 G A 2 22 91.67% 74 0 0% 5 35 87.50% NA 102 0 0% 12 13 52% 0% 19 12 38.71% NA NA NA 30 0 0% 41 38 48.10% NA NA NA 64 0 0% 36 21 36.84% PHF19 PHF19:NM_0012868 42:exon2:c.C34T:p.H 12Y,PHF19:NM_001 nonsynonymo 286840:exon7:c.C71 NA us SNV 8T:p.H240Y,PHF19: NM_015651:exon7:c .C661T:p.H221Y NA NA 27 0 0% 21 20 48.78% NEK6:NM_00116616 7:exon3:c.C176T:p.S 59L,NEK6:NM_0011 66168:exon3:c.C122 T:p.S41L,NEK6:NM_ 001166169:exon3:c. C197T:p.S66L,NEK6 nonsynonymo :NM_001166170:exo NA us SNV n3:c.C122T:p.S41L, NEK6:NM_014397:e xon3:c.C122T:p.S41 L,NEK6:NM_001145 001:exon4:c.C224T: p.S75L,NEK6:NM_0 01166171:exon4:c.C 224T:p.S75L NA NA 23 0 0% 17 15 46.88% NA NA 56 0 0% 43 30 41.10% 0.0002 NA 45 0 0% 24 28 53.85% Validation Negative MCC_611 9 139960087 139960087 C T A 0% 0 A 30316595 G 0 123 9 139089563 139089563 G 30316595 99 100% NA Validation Negative MCC_611 10 11 NA A Validation Negative MCC_611 0 NA 9 134165416 134165416 G A 0% 10 55.56% Validation Negative MCC_611 28971265 G 0 8 NR5A1 28971265 84 0% A 10 20 83.33% 0 9 127262848 127262848 G Validation Negative MCC_611 4 114 Validation Negative MCC_611 G 0% NA NEK6 26789867 C 0 NA T 26789867 68 NA 9 127074819 127074819 C 10 ID=COSM3 432355,CO SM295881 CSMD1:NM_033225: nonsynonymo 5,COSM29 exon20:c.C3086T:p. NA us SNV 58814;OC S1029L CURENCE =1(large_in testine) CSMD1:NM_033225: nonsynonymo exon11:c.G1424A:p. us SNV G475E SLC26A7:NM_00128 2357:exon11:c.G397 A:p.D133N,SLC26A7 :NM_052832:exon11 :c.G1300A:p.D434N, nonsynonymo SLC26A7 SLC26A7:NM_13426 us SNV 6:exon11:c.G1300A: p.D434N,SLC26A7:N M_001282356:exon1 2:c.G1300A:p.D434 N SLC39A4:NM_01776 nonsynonymo SLC39A4 7:exon1:c.G22A:p.E us SNV 8K CYHR1:NM_138496: nonsynonymo CYHR1 exon3:c.C407T:p.P1 us SNV 36L Validation Negative MCC_611 Validation Negative MCC_611 FZD9:NM_003508:e nonsynonymo xon1:c.C1530A:p.F5 NA NA NA us SNV 10L MUC12:NM_001164 nonsynonymo 462:exon5:c.G15189 NA NA NA us SNV A:p.M5063I ID=COSM1 719683,CO NOBOX:NM_001080 nonsynonymo SM171968 413:exon4:c.C523T: 0.0002 NA us SNV 2;OCCUR p.R175C ENCE=2(N S) SLC4A2:NM_001199 693:exon11:c.C1703 T:p.S568F,SLC4A2: NM_001199694:exo n11:c.C1688T:p.S56 nonsynonymo 3F,SLC4A2:NM_001 NA NA NA us SNV 199692:exon12:c.C1 730T:p.S577F,SLC4 A2:NM_003040:exon 12:c.C1730T:p.S577 F NR5A1:NM_004959: nonsynonymo exon4:c.C391T:p.P1 us SNV 31S PPAPDC3:NM_0327 nonsynonymo PPAPDC3 28:exon1:c.G32A:p. us SNV R11Q LHX3:NM_014564:e xon6:c.C817T:p.P27 nonsynonymo LHX3 3S,LHX3:NM_17813 us SNV 8:exon6:c.C802T:p.P 268S SAPCD2:NM_17844 nonsynonymo SAPCD2 8:exon3:c.G718A:p. us SNV E240K APBB1IP:NM_01904 nonsynonymo APBB1IP 3:exon5:c.C280G:p. us SNV H94D BAMBI:NM_012342: nonsynonymo BAMBI exon3:c.G718A:p.D2 us SNV 40N KIAA1462:NM_0208 nonsynonymo KIAA1462 48:exon3:c.C2482T: us SNV p.P828S NA NA NA NA NA 26 0 0% 53 30 36.14% NA NA NA 22 0 0% 34 30 46.88% NA NA NA 134 0 0% 12 11 47.83% NA NA NA 167 2 1.18% 12 12 NA NA NA 135 0 17 12 41.38% 0% 50% Validation Negative MCC_611 10 76735812 76735812 C T KAT6B Validation Negative MCC_611 10 104264025 104264025 G T SUFU Validation Negative MCC_611 10 135087480 135087480 T A ADAM8 Validation Negative MCC_611 11 1101588 1101588 C T MUC2 Validation Negative MCC_611 11 57080697 57080697 C T TNKS1BP 1 Validation Negative MCC_611 11 64807170 64807170 C T SNX15 Validation Negative MCC_611 11 64880701 64880701 C T TM7SF2 Validation Negative MCC_611 11 67051331 67051331 C T ADRBK1 Validation Negative MCC_611 11 70333726 70333726 G A SHANK2 Validation Negative MCC_611 11 117785158 117785158 G A TMPRSS 13 Validation Negative MCC_611 11 117866357 117866357 G A IL10RA Validation Negative MCC_611 12 53069035 G A KRT1 Validation Negative MCC_611 12 133198410 133198410 G A P2RX2 Validation Negative MCC_611 13 51796705 G A FAM124A Validation Negative MCC_611 13 110438103 110438103 T C IRS2 Validation Negative MCC_611 14 21490579 21490579 G A NDRG2 Validation Negative MCC_611 14 54417451 54417451 G A BMP4 Validation Negative MCC_611 14 67940493 67940493 G A TMEM229 B Validation Negative MCC_611 14 92915456 92915456 A T SLC24A4 Validation Negative MCC_611 14 101349732 101349732 G A RTL1 Validation Negative MCC_611 14 105196504 105196504 C T ADSSL1 53069035 51796705 ID=COSM9 KAT6B:NM_012330: 20524;OC nonsynonymo exon8:c.C1717T:p.R CURENCE NA us SNV 573C =1(endome trium) SUFU:NM_0011781 33:exon1:c.G116T:p. nonsynonymo G39V,SUFU:NM_01 NA NA us SNV 6169:exon1:c.G116T :p.G39V ADAM8:NM_001109: exon4:c.A281T:p.E9 nonsynonymo 4V,ADAM8:NM_001 NA NA us SNV 164489:exon4:c.A28 1T:p.E94V MUC2:NM_002457:e nonsynonymo xon43:c.C7589T:p.P NA 0.0002 us SNV 2530L TNKS1BP1:NM_033 nonsynonymo 396:exon5:c.G1465A NA 0.002196 us SNV :p.V489M SNX15:NM_147777: exon7:c.C677T:p.P2 nonsynonymo 26L,SNX15:NM_013 NA NA us SNV 306:exon8:c.C935T: p.P312L TM7SF2:NM_00127 7233:exon4:c.C314T nonsynonymo :p.A105V,TM7SF2:N NA NA us SNV M_003273:exon4:c. C314T:p.A105V ADRBK1:NM_00161 nonsynonymo 9:exon17:c.C1402T: NA NA us SNV p.P468S SHANK2:NM_13326 nonsynonymo 6:exon10:c.C908T:p. NA NA us SNV P303L TMPRSS13:NM_001 206789:exon3:c.C52 3T:p.R175C,TMPRS S13:NM_001077263: exon4:c.C628T:p.R2 nonsynonymo NA 10C,TMPRSS13:NM NA us SNV _001206790:exon4:c .C628T:p.R210C,TM PRSS13:NM_00124 4995:exon4:c.C628T :p.R210C IL10RA:NM_001558: nonsynonymo exon6:c.G742A:p.G2 NA NA us SNV 48R KRT1:NM_006121:e nonsynonymo xon9:c.C1877T:p.S6 NA NA us SNV 26F P2RX2:NM_012226: exon9:c.G1052A:p.G 351D,P2RX2:NM_17 4872:exon9:c.G992A :p.G331D,P2RX2:N nonsynonymo M_016318:exon10:c. NA NA us SNV G1196A:p.G399D,P2 RX2:NM_170683:ex on10:c.G1346A:p.G4 49D,P2RX2:NM_170 682:exon11:c.G1268 A:p.G423D FAM124A:NM_0012 42312:exon1:c.G68A nonsynonymo :p.G23E,FAM124A:N NA NA us SNV M_145019:exon1:c. G68A:p.G23E IRS2:NM_003749:ex nonsynonymo on1:c.A298G:p.N100 NA NA us SNV D NDRG2:NM_001282 nonsynonymo 216:exon3:c.C32T:p. NA NA us SNV S11F BMP4:NM_001202:e xon4:c.C526T:p.H17 6Y,BMP4:NM_13085 nonsynonymo 0:exon4:c.C526T:p.H NA NA us SNV 176Y,BMP4:NM_130 851:exon4:c.C526T: p.H176Y TMEM229B:NM_182 nonsynonymo 526:exon3:c.C148T: NA NA us SNV p.L50F SLC24A4:NM_15364 6:exon10:c.A776T:p. Q259L,SLC24A4:NM nonsynonymo _153648:exon10:c.A NA NA us SNV 584T:p.Q195L,SLC2 4A4:NM_153647:exo n11:c.A776T:p.Q259 L RTL1:NM_00113488 nonsynonymo 8:exon1:c.C1394T:p. NA NA us SNV S465L ADSSL1:NM_19916 nonsynonymo 5:exon1:c.C275T:p.P NA NA us SNV 92L NA 123 0 0% 12 11 47.83% NA 30 0 0% 22 14 38.89% NA 26 0 0% 56 48 46.15% NA 24 0 0% 1 18 94.74% rs750700 63 70 0 0% 27 20 42.55% NA 77 0 0% 9 NA 12 0 0% 35 30 46.15% NA 48 0 0% 29 25 46.30% NA 109 0 0% 29 34 53.97% NA 70 0 0% 12 15 55.56% NA 73 0 0% 14 12 46.15% NA 82 0 0% 6 10 62.50% NA 51 0 0% 35 30 46.15% NA 12 0 0% 2 58 96.67% NA 45 0 0% 64 67 51.15% NA 70 0 0% 27 30 52.63% NA 79 0 0% 45 53 54.08% NA 31 0 0% 8 15 65.22% NA 105 0 0% 8 10 55.56% NA 66 1 1.49% 17 19 52.78% NA 24 0 34 38 52.78% 0% 11 55% Validation Negative MCC_611 14 105614752 105614752 G A JAG2 nonsynonymo us SNV Validation Negative MCC_611 15 24923524 24923524 A T NPAP1 nonsynonymo us SNV Validation Negative MCC_611 15 88522592 88522592 C T NTRK3 nonsynonymo us SNV Validation Negative MCC_611 16 2577839 2577839 C T AMDHD2 nonsynonymo us SNV Validation Negative MCC_611 Validation Negative MCC_611 16 16 3119292 8949110 3119292 C 8949110 C JAG2:NM_145159:e xon15:c.C1931T:p.P 644L,JAG2:NM_002 226:exon16:c.C2045 T:p.P682L NPAP1:NM_018958: exon1:c.A2510T:p.Q 837L NTRK3:NM_001007 156:exon16:c.G1823 A:p.G608E AMDHD2:NM_00114 5815:exon5:c.C481T :p.R161C,AMDHD2: NM_015944:exon5:c .C481T:p.R161C NA NA NA 42 0 0% 84 51 37.78% NA NA NA 113 0 0% 11 11 NA NA NA 65 0 0% 10 11 52.38% NA NA NA 30 0 0% 5 37 88.10% T IL32 IL32:NM_001012636 :exon5:c.C476T:p.A1 59V,IL32:NM_00101 2634:exon6:c.C443T :p.A148V,IL32:NM_0 01012635:exon6:c.C 443T:p.A148V,IL32: NM_001012632:exo nonsynonymo n7:c.C503T:p.A168V NA us SNV ,IL32:NM_00101271 8:exon7:c.C503T:p.A 168V,IL32:NM_0042 21:exon7:c.C503T:p. A168V,IL32:NM_001 012631:exon8:c.C50 3T:p.A168V,IL32:NM _001012633:exon8:c .C332T:p.A111V NA NA 84 0 0% 8 17 T CARHSP1:NM_0010 42476:exon4:c.G355 A:p.E119K,CARHSP 1:NM_001278263:ex on4:c.G355A:p.E119 K,CARHSP1:NM_00 1278264:exon4:c.G3 55A:p.E119K,CARH SP1:NM_001278265 :exon4:c.G355A:p.E 119K,CARHSP1:NM nonsynonymo CARHSP1 _001278266:exon4:c NA us SNV .G355A:p.E119K,CA RHSP1:NM_014316: exon4:c.G355A:p.E1 19K,CARHSP1:NM_ 001278260:exon5:c. G355A:p.E119K,CA RHSP1:NM_001278 261:exon5:c.G355A: p.E119K,CARHSP1: NM_001278262:exo n5:c.G355A:p.E119K NA rs138738 390 70 0 0% 15 20 57.14% NA NA 39 0 0% 16 13 44.83% NA NA 67 0 0% 32 32 NA NA 80 0 0% 12 10 45.45% 0.0002 NA 71 0 0% 12 12 rs350199 42 75 0 0% 43 49 53.26% Validation Negative MCC_611 16 57147363 57147363 C T Validation Negative MCC_611 16 57416680 57416680 G T Validation Negative MCC_611 16 76528845 76528845 G A CPNE2:NM_152727: nonsynonymo CPNE2 exon3:c.C344T:p.S1 NA us SNV 15F CX3CL1:NM_002996 nonsynonymo CX3CL1 :exon3:c.G930T:p.K NA us SNV 310N CNTNAP4:NM_1389 nonsynonymo CNTNAP4 94:exon13:c.G1900A NA us SNV :p.E634K Validation Negative MCC_611 16 76528873 76528873 C T ID=COSM9 73837,CO SM196221, COSM196 CNTNAP4:NM_1389 nonsynonymo 220;OCCU CNTNAP4 94:exon13:c.C1928T us SNV RENCE=1( :p.S643L large_intes tine),1(pros tate),1(end ometrium) Validation Negative MCC_611 17 7251713 7251713 C T ACAP1 Validation Negative MCC_611 17 9549125 9549125 G A USP43 Validation Negative MCC_611 17 26820764 26820764 C T SLC13A2 Validation Negative MCC_611 17 32954028 32954028 C T TMEM132 E Validation Negative MCC_611 17 33521293 33521293 C T SLC35G3 Validation Negative MCC_611 17 38348505 38348505 A T RAPGEFL 1 ACAP1:NM_014716: nonsynonymo exon17:c.C1597T:p. us SNV R533W USP43:NM_0012675 76:exon1:c.G176A:p. nonsynonymo G59E,USP43:NM_15 us SNV 3210:exon1:c.G176A :p.G59E SLC13A2:NM_00114 5975:exon7:c.C1201 nonsynonymo T:p.L401F,SLC13A2: us SNV NM_003984:exon7:c .C1054T:p.L352F TMEM132E:NM_207 nonsynonymo 313:exon3:c.C680T: us SNV p.P227L SLC35G3:NM_1524 nonsynonymo 62:exon1:c.G34A:p. us SNV D12N RAPGEFL1:NM_016 nonsynonymo 339:exon11:c.A1028 us SNV T:p.E343V NA 0.00599 50% 68% 50% 50% NA NA NA 24 0 0% 31 20 39.22% NA NA NA 37 0 0% 15 11 42.31% NA NA NA 58 0 0% 84 40 32.26% NA NA NA 14 0 0% 29 26 47.27% NA NA NA 66 0 0% 25 44 63.77% Validation Negative MCC_611 17 39262092 39262092 G A Validation Negative MCC_611 17 42164045 42164045 C T Validation Negative MCC_611 17 46608163 46608163 G A Validation Negative MCC_611 17 46669747 46669747 C T Validation Negative MCC_611 17 55943846 55943846 C T Validation Negative MCC_611 17 56355461 56355461 G A Validation Negative MCC_611 17 74392737 74392737 G A Validation Negative MCC_611 17 80400086 80400086 G A Validation Negative MCC_611 17 80478018 80478018 C T Validation Negative MCC_611 18 42643157 42643157 C T Validation Negative MCC_611 19 519292 519292 G A Validation Negative MCC_611 19 1257108 1257108 C T KRTAP4KRTAP4- nonsynonymo 9:NM_001146041:ex 9 us SNV on1:c.G452A:p.R151 H HDAC5:NM_001015 053:exon14:c.G1948 nonsynonymo HDAC5 A:p.A650T,HDAC5:N us SNV M_005474:exon14:c. G1945A:p.A649T HOXB1:NM_002144: nonsynonymo HOXB1 exon1:c.C104T:p.S3 us SNV 5L HOXB5:NM_002147: nonsynonymo HOXB5 exon2:c.G634A:p.E2 us SNV 12K CUEDC1:NM_00127 1875:exon10:c.G115 nonsynonymo 3A:p.G385R,CUEDC CUEDC1 us SNV 1:NM_001292025:ex on10:c.G1153A:p.G3 85R MPO:NM_000250:ex nonsynonymo MPO on7:c.C931T:p.P311 us SNV S UBE2O:NM_022066: nonsynonymo UBE2O exon14:c.C2281T:p. us SNV P761S HEXDC:NM_173620: nonsynonymo HEXDC exon12:c.G1376A:p. us SNV S459N FOXK2:NM_004514: nonsynonymo FOXK2 exon1:c.C254T:p.P8 us SNV 5L SETBP1:NM_01555 nonsynonymo SETBP1 9:exon6:c.C4285T:p. us SNV H1429Y TPGS1:NM_033513: nonsynonymo TPGS1 exon2:c.G742A:p.G2 us SNV 48R MIDN Validation Negative MCC_611 19 1795901 1795901 C T ATP8B3 Validation Negative MCC_611 19 2222223 2222223 C T DOT1L Validation Negative MCC_611 19 2248018 2248018 C T SF3A2 Validation Negative MCC_611 19 3449018 3449018 C T NFIC NA 0.000998 rs781255 90 11 0 0% 66 12 15.38% NA NA NA 10 0 0% 27 21 43.75% NA NA NA 58 0 0% 31 31 NA NA NA 48 0 0% 27 19 41.30% NA NA NA 45 0 0% 22 22 NA NA NA 102 0 0% 15 11 42.31% NA NA NA 46 0 0% 17 10 37.04% NA NA NA 23 0 0% 23 25 52.08% NA NA NA 30 0 0% 22 21 48.84% NA NA NA 84 0 0% 24 19 44.19% NA NA NA 15 0 0% 32 34 51.52% ID=COSM4 MIDN:NM_177401:e nonsynonymo 74194;OC xon8:c.C1244T:p.P4 NA us SNV CURENCE 15L =1(kidney) NA 44 0 0% 86 86 NA NA 64 0 0% 54 60 52.63% NA NA 39 0 0% 21 22 51.16% NA NA 12 0 0% 76 44 36.67% NA NA 29 0 0% 17 19 52.78% NA NA NA 27 0 0% 10 10 NA NA NA 65 0 0% 22 21 48.84% ID=COSM3 423355;OC CURENCE NA =1(large_in testine) NA 59 0 0% 7 15 68.18% NA NA NA 82 0 0% 38 24 38.71% NA NA NA 44 0 0% 48 15 23.81% NA NA NA 18 0 0% 27 29 51.79% NA NA NA 29 0 0% 22 14 38.89% NA NA NA 33 0 0% 46 54 ATP8B3:NM_001178 002:exon18:c.G1887 nonsynonymo A:p.M629I,ATP8B3: NA us SNV NM_138813:exon18: c.G2028A:p.M676I DOT1L:NM_032482: nonsynonymo exon24:c.C3055T:p. NA us SNV P1019S SF3A2:NM_007165: nonsynonymo exon9:c.C868T:p.P2 NA us SNV 90S NFIC:NM_00124500 2:exon7:c.C965T:p.S 322L,NFIC:NM_0012 45004:exon7:c.C965 T:p.S322L,NFIC:NM nonsynonymo _001245005:exon7:c NA us SNV .C938T:p.S313L,NFI C:NM_005597:exon7 :c.C965T:p.S322L,N FIC:NM_205843:exo n7:c.C938T:p.S313L Validation Negative MCC_611 19 3600173 3600173 C T TBXA2R nonsynonymo us SNV Validation Negative MCC_611 19 4202870 4202870 C T ANKRD24 nonsynonymo us SNV Validation Negative MCC_611 19 7754102 7754102 G A FCER2 nonsynonymo us SNV Validation Negative MCC_611 19 8326625 8326625 G A CERS4 nonsynonymo us SNV Validation Negative MCC_611 19 15350292 15350292 G A BRD4 nonsynonymo us SNV Validation Negative MCC_611 19 18699841 18699841 C A C19orf60 nonsynonymo us SNV Validation Negative MCC_611 19 30165441 30165441 C T PLEKHF1 nonsynonymo us SNV Validation Negative MCC_611 19 38964051 38964051 C T RYR1 nonsynonymo us SNV TBXA2R:NM_00106 0:exon2:c.G460A:p. G154R,TBXA2R:NM _201636:exon2:c.G4 60A:p.G154R ANKRD24:NM_1334 75:exon7:c.C413T:p. S138F FCER2:NM_001207 019:exon10:c.C940T :p.P314S,FCER2:NM _001220500:exon11: c.C943T:p.P315S,F CER2:NM_002002:e xon11:c.C943T:p.P3 15S CERS4:NM_024552: exon11:c.G902A:p.G 301D BRD4:NM_058243:e xon17:c.C3487T:p.R 1163W C19orf60:NM_00110 0418:exon2:c.C136A :p.H46N,C19orf60:N M_001100419:exon2 :c.C136A:p.H46N PLEKHF1:NM_0243 10:exon2:c.C695T:p. A232V RYR1:NM_000540:e xon28:c.C3800T:p.P 1267L,RYR1:NM_00 1042723:exon28:c.C 3800T:p.P1267L 50% 50% 50% 50% 54% Validation Negative MCC_611 19 40698183 40698183 C T Validation Negative MCC_611 19 41743873 41743873 G A Validation Negative MCC_611 19 42265244 42265244 T C Validation Negative MCC_611 19 47127206 47127206 C T Validation Negative MCC_611 19 48978135 48978135 C T Validation Negative MCC_611 19 49002482 49002482 C T Validation Negative MCC_611 19 51883882 51883882 C G Validation Negative MCC_611 19 55175691 55175691 G A Validation Negative MCC_611 19 55872583 55872583 G A Validation Negative MCC_611 Validation Negative MCC_611 Validation Negative MCC_611 19 19 20 56011213 57325401 3785511 56011213 C 57325401 C 3785511 C T T T MAP3K10:NM_0024 nonsynonymo 46:exon1:c.C245T:p. us SNV A82V AXL:NM_001278599 :exon4:c.G4A:p.G2S ,AXL:NM_001699:ex nonsynonymo AXL on7:c.G808A:p.G270 us SNV S,AXL:NM_021913:e xon7:c.G808A:p.G27 0S CEACAM6:NM_0024 CEACAM nonsynonymo 83:exon3:c.T512C:p. 6 us SNV V171A PTGIR:NM_000960: nonsynonymo PTGIR exon2:c.G277A:p.D9 us SNV 3N CYTH2:NM_004228: exon8:c.C737T:p.P2 nonsynonymo CYTH2 46L,CYTH2:NM_017 us SNV 457:exon8:c.C737T: p.P246L LMTK3:NM_0010804 nonsynonymo LMTK3 34:exon12:c.G1931A us SNV :p.R644Q LIM2:NM_00116174 8:exon4:c.G337C:p. nonsynonymo LIM2 V113L,LIM2:NM_030 us SNV 657:exon4:c.G463C: p.V155L LILRB4:NM_001278 429:exon3:c.G497A: p.G166E,LILRB4:NM _001278426:exon4:c .G410A:p.G137E,LIL RB4:NM_001278427 nonsynonymo LILRB4 :exon4:c.G410A:p.G us SNV 137E,LILRB4:NM_00 1278428:exon4:c.G4 10A:p.G137E,LILRB 4:NM_001278430:ex on4:c.G410A:p.G137 E FAM71E2:NM_0011 nonsynonymo FAM71E2 45402:exon5:c.C613 us SNV T:p.P205S MAP3K10 NA NA NA 40 0 0% 64 60 48.39% NA NA NA 77 0 0% 15 14 48.28% NA NA NA 64 0 0% 6 13 68.42% NA NA NA 13 0 0% 39 24 38.10% NA NA NA 59 0 0% 67 42 38.53% NA NA NA 37 0 0% 82 60 42.25% NA NA rs739343 70 52 0 0% 15 19 55.88% NA NA NA 57 0 0% 6 12 66.67% NA NA NA 52 0 0% 47 47 SSC5D SSC5D:NM_001144 950:exon10:c.C1736 nonsynonymo T:p.P579L,SSC5D:N NA us SNV M_001195267:exon1 0:c.C1736T:p.P579L NA NA 87 0 0% 22 32 59.26% PEG3 PEG3:NM_00114618 6:exon7:c.G4409A:p. G1470E,PEG3:NM_ 001146184:exon9:c. G4409A:p.G1470E,P EG3:NM_001146185 nonsynonymo :exon9:c.G4031A:p. NA us SNV G1344E,PEG3:NM_ 001146187:exon9:c. G4037A:p.G1346E,P EG3:NM_006210:ex on10:c.G4409A:p.G1 470E NA NA 125 0 0% 22 15 40.54% CDC25B CDC25B:NM_00128 7524:exon12:c.C107 0T:p.A357V,CDC25 B:NM_001287518:ex on15:c.C1373T:p.A4 58V,CDC25B:NM_00 1287522:exon15:c.C 1187T:p.A396V,CDC 25B:NM_021872:exo n15:c.C1523T:p.A50 8V,CDC25B:NM_001 287516:exon16:c.C1 nonsynonymo 454T:p.A485V,CDC2 NA us SNV 5B:NM_001287517:e xon16:c.C1412T:p.A 471V,CDC25B:NM_0 01287519:exon16:c. C1310T:p.A437V,CD C25B:NM_00128752 0:exon16:c.C1310T: p.A437V,CDC25B:N M_004358:exon16:c. C1604T:p.A535V,CD C25B:NM_021873:e xon16:c.C1646T:p.A 549V NA NA 57 0 0% 32 18 NA NA 63 0 0% 8 13 61.90% NA NA 79 0 0% 24 14 36.84% NA NA 31 0 0% 33 10 23.26% Validation Negative MCC_611 20 33764021 33764021 T A PROCR Validation Negative MCC_611 20 33875396 33875396 G A FAM83C Validation Negative MCC_611 20 36031643 36031643 C T SRC PROCR:NM_006404 nonsynonymo :exon3:c.T373A:p.S1 NA us SNV 25T FAM83C:NM_17846 nonsynonymo 8:exon4:c.C1186T:p. NA us SNV R396C SRC:NM_005417:ex on14:c.C1472T:p.P4 nonsynonymo 91L,SRC:NM_19829 NA us SNV 1:exon14:c.C1472T: p.P491L 50% 36% Validation Negative MCC_611 20 42788388 42788388 C T Validation Negative MCC_611 20 44803170 44803170 C T Validation Negative MCC_611 20 57429718 57429718 T C Validation Negative MCC_611 20 57896079 57896079 G A Validation Negative MCC_611 21 47406483 47406483 G A Validation Negative MCC_611 22 18301078 18301078 G A Validation Negative MCC_611 22 22314082 22314082 G A Validation Negative MCC_611 22 37690758 37690758 G A Validation Negative MCC_611 22 40082381 40082381 G A Validation Negative MCC_611 X 48776077 48776077 G A Validation Negative MCC_611 X 49083531 49083531 C T Validation Negative MCC_611 X 129203444 129203444 G A Validation Negative MCC_611 X 130410168 130410168 C T Validation Negative MCC_611 1 34312598 C T Validation Negative MCC_611 9 130658612 130658612 C T Validation Negative MCC_611 3 194407799 194407799 C T Validation Negative MCC_611 11 34312598 55135858 55135858 C T JPH2:NM_020433:ex nonsynonymo on2:c.G1039A:p.V34 us SNV 7I CDH22:NM_021248: nonsynonymo CDH22 exon12:c.G2462A:p. us SNV G821E GNAS:NM_0010774 nonsynonymo GNAS 90:exon1:c.T1211C: us SNV p.M404T EDN3:NM_000114:e xon3:c.G373A:p.V12 5M,EDN3:NM_20703 2:exon3:c.G373A:p. nonsynonymo EDN3 V125M,EDN3:NM_2 us SNV 07033:exon3:c.G373 A:p.V125M,EDN3:N M_207034:exon3:c. G373A:p.V125M COL6A1:NM_00184 nonsynonymo COL6A1 8:exon4:c.G472A:p. us SNV D158N MICAL3:NM_015241 nonsynonymo MICAL3 :exon26:c.C4349T:p. us SNV S1450F TOP3B:NM_001282 112:exon15:c.C1681 T:p.R561C,TOP3B:N nonsynonymo M_001282113:exon1 TOP3B us SNV 5:c.C1681T:p.R561C ,TOP3B:NM_003935 :exon15:c.C1681T:p. R561C CYTH4:NM_013385: nonsynonymo CYTH4 exon3:c.G160A:p.E5 us SNV 4K CACNA1I:NM_00100 3406:exon36:c.G653 nonsynonymo 8A:p.G2180R,CACN CACNA1I us SNV A1I:NM_021096:exo n37:c.G6643A:p.G22 15R nonsynonymo PIM2:NM_006875:ex PIM2 us SNV on1:c.C35T:p.P12L CACNA1F:NM_0012 56789:exon9:c.G117 7A:p.E393K,CACNA nonsynonymo 1F:NM_001256790:e CACNA1F us SNV xon9:c.G982A:p.E32 8K,CACNA1F:NM_0 05183:exon9:c.G117 7A:p.E393K ELF4:NM_00112719 7:exon8:c.C1018T:p. nonsynonymo ELF4 P340S,ELF4:NM_00 us SNV 1421:exon8:c.C1018 T:p.P340S IGSF1:NM_0011709 62:exon14:c.G2636A :p.G879E,IGSF1:NM nonsynonymo _001170961:exon15: IGSF1 us SNV c.G2678A:p.G893E,I GSF1:NM_001555:e xon15:c.G2663A:p.G 888E NM_001281956:exo n7:c.921CSMD2 splicing 1G>A,NM_052896:e xon7:c.801-1G>A NM_013443:exon4:c ST6GALN .27splicing AC6 1G>A,NM_00128699 9:exon4:c.27-1G>A FAM43A:NM_15369 FAM43A stopgain 0:exon1:c.C244T:p. Q82X JPH2 OR4A15 stopgain NA NA NA 66 0 0% 20 10 33.33% NA NA NA 24 0 0% 153 63 29.17% NA NA NA 16 0 0% 119 10 NA NA NA 60 0 0% 22 40 64.52% NA NA NA 58 0 0% 41 37 47.44% NA NA NA 18 0 0% 15 18 54.55% ID=COSM1 032499;OC CURENCE NA =1(endome trium) NA 36 0 0% 6 10 62.50% NA NA NA 59 0 0% 28 10 26.32% NA NA NA 22 0 0% 47 41 46.59% NA NA NA 29 0 0% 8 30 78.95% NA NA NA 49 0 0% 1 15 93.75% NA NA NA 36 0 0% 0 16 NA NA NA 39 0 0% 1 14 93.33% NA NA NA 67 0 0% 19 43 69.35% NA NA NA 35 0 0% 21 21 NA NA NA 84 0 0% 51 32 38.55% 0.000399 NA 123 0 0% 19 14 42.42% ID=COSM1 OR4A15:NM_00100 218633;OC 5275:exon1:c.C499T CURENCE :p.R167X =1(large_in testine) 7.75% 100% 50% Validation Negative MCC_611 Validation Negative MCC_611 17 17 7578212 20130865 20130865 T A A TP53 SPECC1 stopgain stopgain SPECC1:NM_00103 3554:exon3:c.T1760 A:p.L587X,SPECC1: NM_001033555:exo n3:c.T1760A:p.L587 X,SPECC1:NM_001 243438:exon3:c.T17 60A:p.L587X,SPECC NA 1:NM_001033553:ex on5:c.T2003A:p.L66 8X,SPECC1:NM_00 1243439:exon5:c.T2 003A:p.L668X,SPEC C1:NM_152904:exon 5:c.T2003A:p.L668X SDK2:NM_00114495 2:exon1:c.C61T:p.Q 21X UNKNOWN UNKNOWN UNKNOWN UNKNOWN ID=COSM9 9618,COS M1638393, COSM996 16,COSM1 0654,COS M99617,C OSM33783 50,COSM9 9615;OCC URENCE= 11(central_ nervous_sy stem),15(st omach),1(b NA one),3(NS) ,16(upper_ aerodigesti ve_tract),2 4(oesopha gus),13(lun g),1(thyroid ),9(haemat opoietic_a nd_lymphoi d_tissue),3 (soft_tissu e),9(ovary), 6(endomet NA 36 0 0% 3 27 90% NA NA 58 0 0% 4 11 73.33% NA NA NA 19 0 0% 57 48 45.71% NA NA NA NA NA NA NA NA 73 74 45 32 0 0 0 0 0% 0% 0% 0% 11 52 3 2 11 50% 58 52.73% 23 88.46% 43 95.56% 53 0 0% 19 15 44.12% 100 23 0 0 0% 0% 41 56 29 41.43% 47 45.63% 74 62.18% Validation Negative MCC_611 17 71640167 G A SDK2 stopgain Validation Validation Validation Validation 1 206632116 206632116 C 3 50363799 50363799 G 7 150716366 150716366 C 11 2424707 2424707 G T A T A SRGAP2 TUSC2 ATG9B TSSC4 unknown unknown unknown unknown Validation Negative MCC_611 11 67789327 67789327 G A ALDH3B1 unknown UNKNOWN NA NA Validation Negative MCC_611 Validation Negative MCC_611 17 17 79405411 79425739 79405411 G 79425739 G A T BAHCC1 BAHCC1 unknown unknown UNKNOWN UNKNOWN NA NA NA NA NA NA NA NA rs200367 510 NA NA Validation Negative MCC_611 19 49611430 49611430 G A SNRNP70 unknown UNKNOWN NA NA NA 36 0 0% 45 NA NA 262 0 0% 414 NA NA 42 0 0% 97 12 11.01% 0.001198 rs201032 310 14 0 0% 43 5 10.42% 0.0002 rs375440 178 183 0 0% 174 9 4.92% 0.017372 rs200268 763 63 0 0% 554 21 3.65% NA rs200277 265 45 0 0% 573 23 3.86% NA NA 150 0 0% 189 27 12.50% Negative Negative Negative Negative MCC_611 MCC_611 MCC_611 MCC_611 71640167 7578212 G TP53:NM_00112611 5:exon2:c.C241T:p.R 81X,TP53:NM_0011 26116:exon2:c.C241 T:p.R81X,TP53:NM_ 001126117:exon2:c. C241T:p.R81X,TP53 :NM_001276697:exo n2:c.C160T:p.R54X, TP53:NM_00127669 8:exon2:c.C160T:p.R 54X,TP53:NM_0012 76699:exon2:c.C160 T:p.R54X,TP53:NM_ 001126118:exon5:c. C520T:p.R174X,TP5 3:NM_000546:exon6 :c.C637T:p.R213X,T P53:NM_001126112: exon6:c.C637T:p.R2 13X,TP53:NM_0011 26113:exon6:c.C637 T:p.R213X,TP53:NM _001126114:exon6:c .C637T:p.R213X,TP 53:NM_001276695:e xon6:c.C520T:p.R17 4X,TP53:NM_00127 6696:exon6:c.C520T Validation positive MCC_582 7 150439350 Validation positive MCC_582 14 95085756 Validation positive MCC_582 19 21720870 Validation positive MCC_582 11 57982519 Validation positive MCC_582 1 16354394 Validation positive MCC_582 1 109792751 Validation positive MCC_582 1 244218283 GIMAP5:NM_018384 :exon3:c.123_124CA GIMAP1nonframeshift ,GIMAP1150439351 TG CA GIMAP5, NA substitution GIMAP5:NM_001199 GIMAP5 577:exon6:c.735_73 6CA SERPINA3:NM_001 SERPINA nonframeshift 95085757 AT CA 085:exon3:c.868_86 NA 3 substitution 9CA ID=COSM1 559535;OC CURENCE ZNF429:NM_001001 nonsynonymo =1(urinary_ 21720870 G A ZNF429 415:exon4:c.G2015A us SNV tract),32(ce :p.R672H ntral_nervo us_system ) ID=COSM3 86417;OC OR1S1:NM_001004 CURENCE nonsynonymo 57982519 G C OR1S1 458:exon1:c.G303C: =1(lung),2( us SNV p.K101N cervix),3(e ndometriu m) CLCNKA:NM_00125 7139:exon8:c.C731T :p.A244V,CLCNKA:N nonsynonymo M_001042704:exon9 16354394 C T CLCNKA NA us SNV :c.C860T:p.A287V,C LCNKA:NM_004070: exon9:c.C860T:p.A2 87V CELSR2:NM_00140 nonsynonymo 109792751 T C CELSR2 8:exon1:c.T50C:p.L1 NA us SNV 7P ZBTB18:NM_006352 :exon1:c.C1180T:p.R 394C,ZBTB18:NM_0 nonsynonymo 01278196:exon2:c.C 244218283 C T ZBTB18 NA us SNV 1180T:p.R394C,ZBT B18:NM_205768:exo n2:c.C1207T:p.R403 C 18 4.17% Validation positive MCC_582 1 248039202 248039202 T A Validation positive MCC_582 2 95542419 95542419 G A Validation positive MCC_582 4 57180335 57180335 C T Validation positive MCC_582 6 30539290 30539323 30539290 C TRIM58:NM_015431 nonsynonymo :exon6:c.T872A:p.V2 us SNV 91E TEKT4:NM_0012865 59:exon6:c.G667A:p. nonsynonymo TEKT4 A223T,TEKT4:NM_1 us SNV 44705:exon6:c.G121 3A:p.A405T KIAA1211:NM_0207 nonsynonymo KIAA1211 22:exon8:c.C667T:p. us SNV R223C ABCF1:NM_0010250 91:exon1:c.C26T:p.P nonsynonymo ABCF1 9L,ABCF1:NM_0010 us SNV 90:exon1:c.C26T:p.P 9L ABCF1:NM_0010250 91:exon1:c.G59A:p. nonsynonymo ABCF1 S20N,ABCF1:NM_00 us SNV 1090:exon1:c.G59A: p.S20N GIMAP5:NM_018384 :exon3:c.C251T:p.P8 GIMAP1nonsynonymo 4L,GIMAP1GIMAP5, us SNV GIMAP5:NM_001199 GIMAP5 577:exon6:c.C863T: p.P288L GIMAP5:NM_018384 :exon3:c.G664A:p.D GIMAP1nonsynonymo 222N,GIMAP1GIMAP5, us SNV GIMAP5:NM_001199 GIMAP5 577:exon6:c.G1276A :p.D426N DPP6:NM_00129025 3:exon1:c.G191A:p. nonsynonymo DPP6 G64D,DPP6:NM_13 us SNV 0797:exon1:c.G191A :p.G64D HSF1:NM_005526:e nonsynonymo HSF1 xon9:c.T1087C:p.S3 us SNV 63P 178 0 0% 61 rs756036 22 95 0 0% 638 22 rs373287 876 96 0 0% 111 15 11.90% ID=COSM1 294235;OC CURENCE NA =2(cervix), 1(lung) NA 94 0 0% 123 12 8.89% ID=COSM1 294236;OC NA CURENCE =2(cervix) NA 65 0 0% 102 10 8.93% NA NA NA 166 0 0% 528 18 3.30% NA NA NA 109 0 0% 407 15 3.55% NA NA rs253373 0 12 0 0% 354 28 7.33% NA NA NA 27 0 0% 424 18 4.07% ID=COSM1 OR1S2:NM_001004 nonsynonymo 293397;OC 459:exon1:c.A136G: NA us SNV CURENCE p.S46G =1(cervix) NA 250 0 0% 225 10 4.26% NA NA 261 0 0% 213 11 4.91% NA NA 255 0 0% 211 10 4.52% NA NA 35 0 0% 133 26 16.35% NA NA 60 0 0% 274 13 NA rs619551 19 61 1 1.61% 30 50 62.50% NA rs619551 20 62 1 1.59% 30 50 62.50% ID=COSM1 nonsynonymo MT1H:NM_005951:e 293609;OC NA us SNV xon2:c.G40A:p.A14T CURENCE =1(cervix) rs202013 248 67 0 0% 436 rs189343 211 28 0 0% 28 NA 44 0 0% 134 11 NA 46 0 0% 488 78 13.78% A ID=COSM1 KRTAP13KRTAP13- nonsynonymo 294019;OC 3:NM_181622:exon1 NA 3 us SNV CURENCE :c.C58T:p.H20Y =1(cervix) NA 182 0 0% 295 12 3.91% A ID=COSM1 KRTAP13KRTAP13- nonsynonymo 294021;OC 4:NM_181600:exon1 NA 4 us SNV CURENCE :c.G83A:p.S28N =1(cervix) NA 115 1 0.86% 271 16 5.57% T Validation positive MCC_582 6 30539323 G A Validation positive MCC_582 7 150439478 150439478 C T Validation positive MCC_582 7 150439891 150439891 G A Validation positive MCC_582 7 153750096 153750096 G A Validation positive MCC_582 8 145535875 145535875 T C TRIM58 NA NA NA Validation positive MCC_582 11 57971518 57971518 T C OR1S2 Validation positive MCC_582 11 57982304 57982304 T C OR1S1 Validation positive MCC_582 11 57982308 57982308 T C OR1S1 A PLEKHG6:NM_0011 44857:exon10:c.C10 81A:p.L361M,PLEK nonsynonymo HG6:NM_001144856 PLEKHG6 NA us SNV :exon11:c.C1177A:p. L393M,PLEKHG6:N M_018173:exon11:c. C1177A:p.L393M Validation positive MCC_582 12 6427488 7045924 6427488 C Validation positive MCC_582 12 7045924 G T ATN1 Validation positive MCC_582 12 123879666 123879666 A G SETD8 Validation positive MCC_582 12 123879668 123879668 G C SETD8 Validation positive MCC_582 16 56704429 56704429 G A Validation positive MCC_582 17 39240627 39240627 T C Validation positive MCC_582 17 39262233 39262233 G C Validation positive MCC_582 20 57768761 57768761 G A Validation positive Validation positive MCC_582 MCC_582 21 21 31798173 31802676 31798173 G 31802676 G MT1H OR1S1:NM_001004 nonsynonymo 458:exon1:c.T88C:p. NA us SNV F30L OR1S1:NM_001004 nonsynonymo 458:exon1:c.T92C:p. NA us SNV F31S ATN1:NM_00100702 6:exon5:c.G1494T:p. nonsynonymo Q498H,ATN1:NM_00 NA us SNV 1940:exon5:c.G1494 T:p.Q498H SETD8:NM_020382: nonsynonymo exon4:c.A362G:p.K1 NA us SNV 21R SETD8:NM_020382: nonsynonymo exon4:c.G364C:p.G1 NA us SNV 22R NA 0.011582 NA KRTAP4KRTAP4- nonsynonymo 7:NM_033061:exon1 NA NA 7 us SNV :c.T169C:p.S57P ID=COSM1 KRTAP4293668,CO KRTAP4- nonsynonymo 9:NM_001146041:ex SM129366 NA 9 us SNV on1:c.G593C:p.S198 9;OCCUR T ENCE=1(c ervix) ZNF831:NM_178457 nonsynonymo ZNF831 :exon1:c.G2687A:p. NA NA us SNV R896K NA 17 21.79% 20 3.33% 4.53% 4.39% 16 36.36% 7.59% 22 Validation positive MCC_582 23237816 A G Validation positive MCC_582 9 130674701 130674701 G A Validation positive MCC_582 Validation positive MCC_569 1 160098792 160098793 CC TT ATP1A2 Validation positive MCC_569 2 95542418 95542419 TG CA TEKT4 Validation positive MCC_569 1 17090929 17090929 G A MST1L Validation positive MCC_569 1 148025797 148025797 T A NBPF8 Validation positive MCC_569 1 201178667 201178667 C G IGFN1 Validation positive MCC_569 2 187697911 187697911 C T ZSWIM2 Validation positive MCC_569 3 75786211 75786211 A G ZNF717 Validation positive MCC_569 3 75787770 75787770 C T ZNF717 Validation positive MCC_569 3 196530014 196530014 T A PAK2 Validation positive MCC_569 4 147628698 147628698 A G TTC29 19 23237816 IGLL5:NM_0012562 96:exon2:c.A362G:p. nonsynonymo IGLL5 Q121R,IGLL5:NM_0 NA us SNV 01178126:exon3:c.A 587G:p.Q196R ST6GALNAC4:NM_1 75040:exon3:c.C205 ST6GALN T:p.Q69X,ST6GALN stopgain NA AC4 AC4:NM_175039:ex on4:c.C457T:p.Q153 X 7935863 24493004 7935863 G T Validation positive MCC_569 5 24493004 C A Validation positive MCC_569 5 133634356 133634356 A T Validation positive MCC_569 6 10756728 10756728 C T Validation positive MCC_569 8 41790007 41790007 C A Validation positive MCC_569 8 135596245 135596245 A C Validation positive MCC_569 9 19347004 T A Validation positive MCC_569 9 140918181 140918181 A G 19347004 FLJ22184 unknown UNKNOWN ATP1A2:NM_000702 nonframeshift :exon10:c.1239_124 substitution 0TT TEKT4:NM_0012865 59:exon6:c.666_667 nonframeshift CA,TEKT4:NM_1447 substitution 05:exon6:c.1212_12 13CA MST1L:NM_0012717 nonsynonymo 33:exon1:c.C47T:p.S us SNV 16L NBPF8:NM_0010375 nonsynonymo 01:exon7:c.A1055T: us SNV p.K352M IGFN1:NM_0011645 nonsynonymo 86:exon12:c.C4646G us SNV :p.T1549R ZSWIM2:NM_18252 nonsynonymo 1:exon7:c.G877A:p. us SNV V293I ZNF717:NM_001128 223:exon5:c.T2563C :p.S855P,ZNF717:N nonsynonymo M_001290208:exon5 us SNV :c.T2563C:p.S855P, ZNF717:NM_001290 209:exon5:c.T2413C :p.S805P ZNF717:NM_001128 223:exon5:c.G1004A :p.G335E,ZNF717:N nonsynonymo M_001290208:exon5 us SNV :c.G1004A:p.G335E, ZNF717:NM_001290 209:exon5:c.G854A: p.G285E PAK2:NM_002577:e nonsynonymo xon4:c.T415A:p.Y13 us SNV 9N TTC29:NM_031956: nonsynonymo exon12:c.T1336C:p. us SNV F446L 0.0002 rs200920 901 57 0 0% 83 10 10.75% 134 0 0% 400 18 1 1.72% 324 38 10.50% 180 43.37% NA NA NA NA rs502740 9 NA NA NA 119 0 0% 235 NA NA NA 132 0 0% 676 24 3.43% NA NA NA 79 0 0% 187 18 8.78% NA NA rs201925 335 78 0 0% 113 11 8.87% NA NA rs199718 718 182 2 1.09% 255 11 4.14% NA NA NA 220 0 0% 134 78 36.79% NA NA rs147483 742 244 2 0.81% 392 22 5.31% NA NA rs748739 74 227 2 0.87% 424 23 5.15% NA NA NA 170 0 0% 107 80 42.78% NA NA NA 148 0 0% 81 74 47.74% NA 165 0 0% 118 101 46.12% NA 211 0 0% 208 20 8.77% rs564698 59 189 2 1.05% 235 18 7.11% NA 181 0 0% 322 192 37.35% NA 93 0 0% 121 79 39.50% NA 186 1 0.53% 198 123 38.32% 0 165 ID=COSM1 CDH10:NM_006727: 067118;OC nonsynonymo CDH10 exon10:c.G1546T:p. CURENCE NA us SNV D516Y =1(endome trium) CDKL3:NM_0011135 nonsynonymo CDKL3 75:exon13:c.T1765A NA NA us SNV :p.F589I TMEM14B:NM_0011 27711:exon5:c.C220 T:p.R74C,TMEM14B TMEM14 nonsynonymo :NM_001286484:exo NA NA B us SNV n5:c.C289T:p.R97C, TMEM14B:NM_0309 69:exon6:c.C322T:p. R108C KAT6A:NM_006766: exon17:c.G5731T:p. V1911F,KAT6A:NM_ nonsynonymo 001099412:exon18:c KAT6A NA NA .G5731T:p.V1911F,K us SNV AT6A:NM_00109941 3:exon18:c.G5731T: p.V1911F ZFAT:NM_00117415 7:exon9:c.T2531G:p. V844G,ZFAT:NM_00 1167583:exon10:c.T 2681G:p.V894G,ZFA T:NM_001174158:ex on10:c.T2681G:p.V8 nonsynonymo ZFAT 94G,ZFAT:NM_0208 NA NA us SNV 63:exon10:c.T2717G :p.V906G,ZFAT:NM_ 001029939:exon11:c .T2681G:p.V894G,Z FAT:NM_001289394 :exon11:c.T2681G:p. V894G DENND4C:NM_0179 DENND4 nonsynonymo 25:exon22:c.T4090A NA NA C us SNV :p.S1364T CACNA1B:NM_0007 ID=COSM3 18:exon19:c.A2986G 750165;OC nonsynonymo :p.T996A,CACNA1B: CACNA1B CURENCE 0.10643 us SNV NM_001243812:exo =6(large_in n19:c.A2986G:p.T99 testine) 6A rs111373 42 57 25 0% 11 4.31% 6.25% DDX51:NM_175066: nonsynonymo exon3:c.A556T:p.N1 NA us SNV 86Y SIGLEC10:NM_0011 71156:exon5:c.C739 A:p.P247T,SIGLEC1 0:NM_001171157:ex on5:c.C913A:p.P305 T,SIGLEC10:NM_00 SIGLEC1 nonsynonymo G T 1171158:exon5:c.C7 NA 0 us SNV 69A:p.P257T,SIGLE C10:NM_001171159: exon5:c.C739A:p.P2 47T,SIGLEC10:NM_ 033130:exon5:c.C91 3A:p.P305T SIGLEC12:NM_0333 29:exon2:c.C593T:p. SIGLEC1 nonsynonymo G A S198F,SIGLEC12:N NA 2 us SNV M_053003:exon3:c. C947T:p.S316F ID=COSM7 8412;OCC RFPL3:NM_0010985 URENCE= 35:exon2:c.C838T:p. nonsynonymo 2(large_int C T RFPL3 R280C,RFPL3:NM_0 us SNV estine),1(p 06604:exon3:c.C751 ancreas),1( T:p.R251C ovary),3(th yroid) MAGEA12:NM_0053 67:exon2:c.G835A:p. V279I,MAGEA12:NM ID=COSM3 MAGEA1 nonsynonymo _001166386:exon3:c 28976;OC C T 2 us SNV .G835A:p.V279I,MA CURENCE GEA12:NM_0011663 =1(liver) 87:exon3:c.G835A:p. V279I SKA3:NM_00116601 7:exon1:c.C79T:p.R2 G A SKA3 stopgain 7X,SKA3:NM_14506 NA 1:exon1:c.C79T:p.R2 7X COG1:NM_018714:e G T COG1 stopgain xon8:c.G2086T:p.G6 NA 96X T G THSD7B unknown UNKNOWN NA SON:NM_00129141 1:exon3:c.2301_230 2GT,SON:NM_0321 nonframeshift AA GT SON 95:exon3:c.2301_23 NA substitution 02GT,SON:NM_138 927:exon3:c.2301_2 302GT FAM47A:NM_20340 nonframeshift AG GA FAM47A 8:exon1:c.1554_155 NA substitution 5TC Validation positive MCC_569 12 132627387 132627387 T Validation positive MCC_569 19 51919263 51919263 Validation positive MCC_569 19 52002832 52002832 Validation positive MCC_569 22 32756703 32756703 Validation positive MCC_569 Validation positive MCC_569 13 21750538 21750538 Validation positive MCC_569 17 71199151 71199151 Validation positive MCC_569 Validation positive MCC_345 Validation positive MCC_345 Validation positive Validation positive MCC_345 MCC_345 Validation positive MCC_345 Validation positive MCC_345 X 151899966 151899966 2 137990610 137990610 21 X 11 11 34923838 34923839 34148841 34148842 534289 534285 534289 C 534285 C A A T DDX51 HRAS HRAS 112 0 0% 257 NA 176 40.65% rs725895 1 46 0 0% 306 NA NA 27 0 0% 35 36 50.70% NA rs731663 67 40 0 0% 67 10 12.99% NA rs142786 156 102 0 0% 251 12 NA rs619503 56 60 0 0% 122 20 14.08% NA NA 228 1 0.44% 269 138 33.91% NA NA 230 0 0% 389 258 39.88% NA NA 21 0 0% 272 20 6.85% NA NA 15 0 0% 443 42 8.66% 12 3.77% 4.56% HRAS:NM_0011304 42:exon2:c.G34T:p. G12C,HRAS:NM_00 nonsynonymo 5343:exon2:c.G34T: us SNV p.G12C,HRAS:NM_1 76795:exon2:c.G34T :p.G12C rs104894 229 6 0 0% 293 56 16.05% HRAS:NM_0011304 42:exon2:c.G38A:p. G13D,HRAS:NM_00 nonsynonymo 5343:exon2:c.G38A: us SNV p.G13D,HRAS:NM_1 76795:exon2:c.G38A :p.G13D ID=COSM4 90,COSM3 448604;OC CURENCE =4(upper_ aerodigesti ve_tract),1( NA haematopo ietic_and_l ymphoid_ti ssue),3(thy roid),1(urin ary_tract),2 (skin) rs104894 226 6 0 0% 346 14 3.89% rs731663 67 15 0 0% 64 6 8.57% rs761841 71 45 3 6.25% 272 32756703 C T RFPL3 7 100677279 100677279 G C MUC17 MUC17:NM_001040 nonsynonymo 105:exon3:c.G2582C us SNV :p.S861T 32756703 NA ID=COSM1 644659,CO SM481;OC CURENCE =2(lung),5( thyroid),6(u pper_aerod NA igestive_tr act),1(NS), 7(urinary_tr act),10(ski n),1(soft_ti ssue) RFPL3:NM_0010985 35:exon2:c.C838T:p. nonsynonymo R280C,RFPL3:NM_0 us SNV 06604:exon3:c.C751 T:p.R251C 22 NA ID=COSM7 8412;OCC URENCE= 2(large_int NA estine),1(p ancreas),1( ovary),3(th yroid) ID=COSM5 1608;OCC URENCE= 1(thyroid),2 NA (breast),3(l arge_intest ine) 57 17.33% Validation positive MCC_345 1 26608867 26608867 C A UBXN11 nonsynonymo us SNV Validation positive MCC_345 1 26671594 26671594 T C AIM1L nonsynonymo us SNV Validation positive MCC_345 1 26671690 26671690 A G AIM1L nonsynonymo us SNV Validation positive MCC_345 1 53073948 53073948 G C GPX7 nonsynonymo us SNV Validation positive MCC_345 1 152186837 152186837 C T HRNR nonsynonymo us SNV Validation positive MCC_345 1 152188961 152188961 C T HRNR nonsynonymo us SNV Validation positive MCC_345 1 157767951 157767951 C T FCRL1 nonsynonymo us SNV Validation positive MCC_345 2 130832598 130832598 C T POTEF nonsynonymo us SNV Validation positive MCC_345 2 165353777 165353777 C A GRB14 Validation positive MCC_345 2 196651740 196651740 C A DNAH7 Validation positive MCC_345 3 75787199 75787199 A C ZNF717 Validation positive MCC_345 3 75787770 75787770 C T ZNF717 Validation positive MCC_345 3 75787876 75787876 G T ZNF717 Validation positive MCC_345 3 195453249 195453249 T C MUC20 Validation positive MCC_345 6 30996702 T C MUC22 Validation positive MCC_345 7 100677210 100677210 C T MUC17 Validation positive MCC_345 8 T RP1 30996702 55534032 55534032 C UBXN11:NM_00107 7262:exon11:c.G112 6T:p.G376C,UBXN1 1:NM_145345:exon1 5:c.G1387T:p.G463 C,UBXN11:NM_1830 08:exon16:c.G1486T :p.G496C AIM1L:NM_0010397 75:exon2:c.A1555G: p.S519G AIM1L:NM_0010397 75:exon2:c.T1459C: p.S487P GPX7:NM_015696:e xon3:c.G415C:p.E13 9Q HRNR:NM_0010099 31:exon3:c.G7268A: p.R2423Q HRNR:NM_0010099 31:exon3:c.G5144A: p.R1715H FCRL1:NM_0011593 97:exon7:c.G997A:p. E333K,FCRL1:NM_0 01159398:exon8:c.G 1114A:p.V372M,FCR L1:NM_052938:exon 8:c.G1114A:p.V372 M POTEF:NM_001099 771:exon17:c.G2447 A:p.R816H NA NA rs193142 354 16 0 0% 252 27 9.68% NA NA NA 17 0 0% 336 13 3.72% NA NA rs112674 559 16 0 0% 495 33 6.25% NA NA NA 15 0 0% 95 45 32.14% NA NA NA 25 0 0% 242 28 10.37% NA NA rs768791 72 45 0 0% 290 32 NA NA NA 16 0 0% 106 72 40.45% NA NA rs394803 6 11 0 0% 100 10 NA 50 0 0% 280 139 33.17% NA 52 0 0% 207 34 14.11% rs138214 171 18 0 0% 411 32 7.22% rs748739 74 31 0 0% 407 18 4.24% rs200554 516 27 0 0% 400 21 4.99% rs382840 7 12 0 0% 210 115 35.38% rs200849 001 10 0 0% 435 74 14.54% rs712734 06 61 0 0% 369 23 NA 19 0 0% 458 ID=COSM3 961411,CO GRB14:NM_004490: nonsynonymo SM396141 exon11:c.G1238T:p. NA us SNV 0;OCCUR R413L ENCE=1(lu ng) DNAH7:NM_018897: nonsynonymo exon58:c.G10872T:p NA NA us SNV .Q3624H ZNF717:NM_001128 223:exon5:c.T1575G :p.H525Q,ZNF717:N nonsynonymo M_001290208:exon5 NA NA us SNV :c.T1575G:p.H525Q, ZNF717:NM_001290 209:exon5:c.T1425G :p.H475Q ZNF717:NM_001128 223:exon5:c.G1004A :p.G335E,ZNF717:N nonsynonymo M_001290208:exon5 NA NA us SNV :c.G1004A:p.G335E, ZNF717:NM_001290 209:exon5:c.G854A: p.G285E ZNF717:NM_001128 223:exon5:c.C898A: p.L300I,ZNF717:NM nonsynonymo _001290208:exon5:c NA NA us SNV .C898A:p.L300I,ZNF 717:NM_001290209: exon5:c.C748A:p.L2 50I MUC20:NM_001282 506:exon2:c.T1775C :p.M592T,MUC20:N M_001291833:exon4 nonsynonymo :c.T1262C:p.M421T, NA NA us SNV MUC20:NM_020790: exon4:c.T1319C:p.M 440T,MUC20:NM_15 2673:exon4:c.T1262 C:p.M421T MUC22:NM_001198 nonsynonymo 815:exon3:c.T3494C NA NA us SNV :p.I1165T MUC17:NM_001040 nonsynonymo 105:exon3:c.C2513T NA NA us SNV :p.T838I RP1:NM_006269:ex nonsynonymo on2:c.C506T:p.A169 NA NA us SNV V 9.94% 9.09% 5.87% 237 34.10% Validation positive MCC_345 9 130928633 130928633 C T CIZ1 CIZ1:NM_00125797 6:exon16:c.G2237A: p.R746Q,CIZ1:NM_0 01131016:exon17:c. G2540A:p.R847Q,CI Z1:NM_001131018:e xon17:c.G2300A:p.R 767Q,CIZ1:NM_0121 nonsynonymo 27:exon17:c.G2540A NA us SNV :p.R847Q,CIZ1:NM_ 001131015:exon18:c .G2372A:p.R791Q,C IZ1:NM_001131017: exon18:c.G2357A:p. R786Q,CIZ1:NM_00 1257975:exon18:c.G 2708A:p.R903Q Validation positive MCC_345 10 28250610 28250610 C A ARMC4 nonsynonymo us SNV Validation positive MCC_345 10 71392725 71392725 C G C10orf35 nonsynonymo us SNV Validation positive MCC_345 11 1017337 1017337 T C MUC6 nonsynonymo us SNV Validation positive MCC_345 11 1093066 1093066 C A MUC2 nonsynonymo us SNV Validation positive MCC_345 12 50745703 50745703 T G FAM186A nonsynonymo us SNV Validation positive MCC_345 12 56865405 56865405 C G GLS2 nonsynonymo us SNV Validation positive MCC_345 14 74825206 74825206 G A VRTN nonsynonymo us SNV Validation positive MCC_345 15 90809036 90809036 G A NGRN nonsynonymo us SNV Validation positive MCC_345 16 19539283 19539283 C T CCP110 nonsynonymo us SNV Validation positive MCC_345 16 51175755 51175755 C A SALL1 nonsynonymo us SNV Validation positive MCC_345 17 21204187 21204187 G T MAP2K3 nonsynonymo us SNV Validation positive MCC_345 17 21204192 21204192 C T MAP2K3 nonsynonymo us SNV Validation positive MCC_345 17 46608203 46608203 A G HOXB1 nonsynonymo us SNV Validation positive MCC_345 18 44555309 44555309 G C TCEB3C, nonsynonymo TCEB3CL us SNV Validation positive MCC_345 19 54848157 54848157 A G LILRA4 Validation positive MCC_345 20 51870661 51870661 G A TSHZ2 Validation positive MCC_345 20 62195719 62195719 C T HELZ2 Validation positive MCC_345 21 34923875 34923875 T A SON nonsynonymo us SNV ARMC4:NM_001290 020:exon10:c.G1273 T:p.D425Y,ARMC4: NM_018076:exon10: c.G1273T:p.D425Y C10orf35:NM_14530 6:exon4:c.C276G:p.I 92M MUC6:NM_005961:e xon31:c.A5464G:p.T 1822A MUC2:NM_002457:e xon30:c.C4885A:p.P 1629T FAM186A:NM_0011 45475:exon4:c.A491 2C:p.T1638P GLS2:NM_00128079 8:exon15:c.G880C:p. D294H,GLS2:NM_00 1280797:exon17:c.G 880C:p.D294H,GLS2 :NM_001280796:exo n18:c.G847C:p.D283 H,GLS2:NM_013267 :exon18:c.G1675C:p. D559H VRTN:NM_018228:e xon2:c.G1720A:p.E5 74K NGRN:NM_0010330 88:exon1:c.G92A:p. G31D CCP110:NM_001199 022:exon2:c.C80T:p. P27L,CCP110:NM_0 14711:exon3:c.C80T :p.P27L SALL1:NM_0011278 92:exon2:c.G87T:p. E29D,SALL1:NM_00 2968:exon2:c.G378T :p.E126D MAP2K3:NM_00275 6:exon5:c.G194T:p. R65L,MAP2K3:NM_ 145109:exon5:c.G28 1T:p.R94L MAP2K3:NM_00275 6:exon5:c.C199T:p.R 67W,MAP2K3:NM_1 45109:exon5:c.C286 T:p.R96W HOXB1:NM_002144: exon1:c.T64C:p.Y22 H TCEB3CL:NM_0011 00817:exon1:c.C905 G:p.A302G,TCEB3C :NM_145653:exon1: c.C905G:p.A302G LILRA4:NM_012276: exon6:c.T1210C:p.Y 404H TSHZ2:NM_0011934 21:exon2:c.G655A:p. nonsynonymo A219T,TSHZ2:NM_1 us SNV 73485:exon2:c.G664 A:p.A222T 0.008586 rs115492 60 12 0 0% 98 85 46.45% NA NA rs147175 768 27 0 0% 155 28 15.30% NA NA NA 19 0 0% 232 105 31.16% NA NA rs766861 56 35 0 0% 496 NA NA rs563652 00 14 0 0% 85 NA NA rs201307 392 14 0 0% 448 33 NA NA NA 11 0 0% 460 90 16.36% NA NA NA 10 0 0% 93 43 31.62% NA NA NA 17 0 0% 255 35 12.07% NA NA NA 37 0 0% 285 139 32.78% NA NA NA 27 0 0% 210 139 39.83% NA NA rs560672 80 15 0 0% 224 31 12.16% NA NA rs562168 06 16 0 0% 239 31 11.48% NA NA rs129505 37 15 0 0% 191 14 6.83% NA NA NA 47 0 0% 341 34 9.07% NA NA rs766656 15 18 0 0% 222 21 8.64% 0.000799 rs141167 641 47 0 0% 387 218 36.03% 0.0002 rs617395 18 18 0 0% 203 135 39.94% NA 11 0 0% 158 25 13.66% ID=COSM8 8698;OCC URENCE= 3(central_n ervous_sys tem),1(larg e_intestine ),1(ovary) HELZ2:NM_033405: exon3:c.G2749A:p.V nonsynonymo 917I,HELZ2:NM_001 NA us SNV 037335:exon9:c.G44 56A:p.V1486I SON:NM_00129141 1:exon3:c.T2338A:p. S780T,SON:NM_032 nonsynonymo 195:exon3:c.T2338A NA us SNV :p.S780T,SON:NM_1 38927:exon3:c.T233 8A:p.S780T NA 23 4.43% 11 11.46% 6.86% Validation positive MCC_345 22 Validation positive MCC_345 Validation positive MCC_345 17 Validation positive Validation positive Validation positive MCC_345 MCC_345 MCC_345 3 2 6 Validation Negative MCC_274 X 18609682 18609682 A G TUBA8 nonsynonymo us SNV 34148844 34148844 G C FAM47A nonsynonymo us SNV 21204210 21204210 C T MAP2K3 stopgain TUBA8:NM_0011934 14:exon4:c.A739G:p. M247V,TUBA8:NM_ 018943:exon4:c.A93 7G:p.M313V FAM47A:NM_20340 8:exon1:c.C1552G:p. R518G MAP2K3:NM_00275 6:exon5:c.C217T:p. Q73X,MAP2K3:NM_ 145109:exon5:c.C30 4T:p.Q102X NA NA UNKNOWN USP8:NM_00128304 9:exon15:c.2720_27 20AA,USP8:NM_001 128610:exon18:c.30 38_3038AA,USP8:N M_005154:exon18:c. 3038_3038AA CNKSR1:NM_00631 4:exon18:c.1578_15 79TT EFCAB7:NM_03243 7:exon11:c.1467_14 68AA NA NA NA 16 0 0% 430 NA NA rs178555 14 17 0 0% 492 38 7.17% NA NA rs557969 47 19 0 0% 329 28 7.84% NA NA NA NA NA NA NA NA NA 29 40 18 0 0 0 0% 0% 0% 403 123 252 25 5.84% 78 38.81% 131 34.20% NA NA NA 28 0 0% 27 25 48.08% NA NA NA 16 0 0% 22 14 38.89% NA NA NA 21 0 0% 27 21 43.75% C1orf85:NM_001256 605:exon2:c.265_26 6AA,C1orf85:NM_00 1256604:exon3:c.52 3_524AA,C1orf85:N nonframeshift M_001256608:exon3 NA substitution :c.523_524AA,C1orf 85:NM_001256609:e xon3:c.280_281AA,C 1orf85:NM_144580:e xon3:c.523_524AA NA NA 18 0 0% 21 12 36.36% 75787869 757878670 CA TG ZNF717 58285625 58285625 T G VRK2 28483495 28483495 C A GPX6 unknown unknown unknown 15 50789428 50789429 GG AA USP8 frameshift substitution Validation Negative MCC_274 1 26514982 26514983 CC TT CNKSR1 nonframeshift substitution Validation Negative MCC_274 1 64027498 64027499 GG AA EFCAB7 nonframeshift substitution 100 18.87% Validation Negative MCC_274 1 156264211 156264212 CC TT C1orf85 Validation Negative MCC_274 1 167095509 167095510 GG AA DUSP27 NA NA NA 11 0 0% 23 15 39.47% Validation Negative MCC_274 1 237711850 NA NA NA 15 0 0% 24 12 33.33% Validation Negative MCC_274 2 54839305 NA NA NA 12 0 0% 27 28 50.91% Validation Negative MCC_274 2 69748046 NA NA NA 24 0 0% 17 14 45.16% Validation Negative MCC_274 2 98413916 NA NA NA 24 0 0% 21 13 38.24% Validation Negative MCC_274 2 101580582 NA NA NA 22 0 0% 25 14 35.90% Validation Negative MCC_274 2 202626496 NA NA NA 12 0 0% 26 14 Validation Negative MCC_274 2 234716080 NA NA NA 10 0 0% 27 14 34.15% Validation Negative MCC_274 4 nonframeshift ENAM:NM_031889:e NA substitution xon9:c.1948_1949TT NA NA 36 0 0% 25 17 40.48% NA NA NA 19 0 0% 25 19 43.18% NA NA NA 19 0 0% 39 15 27.78% NA NA NA 14 0 0% 22 15 40.54% NA NA NA 12 0 0% 32 17 34.69% NA NA NA 29 0 0% 14 23 62.16% NA NA NA 33 0 0% 21 10 32.26% NA NA NA 13 0 0% 18 15 45.45% 71509091 DUSP27:NM_00108 nonframeshift 0426:exon5:c.1141_ substitution 1142AA RYR2:NM_001035:e nonframeshift 237711851 GG AA RYR2 xon26:c.3026_3027A substitution A SPTBN1:NM_17831 3:exon3:c.269_270T nonframeshift 54839306 CC TT SPTBN1 T,SPTBN1:NM_0031 substitution 28:exon4:c.308_309 TT AAK1:NM_014911:e nonframeshift 69748047 GG AA AAK1 xon11:c.1129_1130T substitution T TMEM131:NM_0153 nonframeshift 98413917 GG AA TMEM131 48:exon26:c.2781_2 substitution 782TT nonframeshift NPAS2:NM_002518: 101580583 GG AA NPAS2 substitution exon8:c.661_662AA ALS2:NM_00113574 nonframeshift 5:exon4:c.220_221T 202626497 GG AA ALS2 substitution T,ALS2:NM_020919: exon4:c.220_221TT MROH2A:NM_00128 nonframeshift 234716081 CC TT MROH2A 7395:exon20:c.2073 substitution _2074TT 71509092 CC TT ENAM Validation Negative MCC_274 4 119154246 119154247 GG AA NDST3 Validation Negative MCC_274 6 7585964 Validation Negative MCC_274 6 26468509 26468510 GG AA BTN2A1 Validation Negative MCC_274 6 29407992 29407993 CC TT OR10C1 Validation Negative MCC_274 6 32261486 32261487 GG AA C6orf10 Validation Negative MCC_274 6 129511365 129511366 GG AA LAMA2 Validation Negative MCC_274 6 158870142 158870143 CC TT TULP4 7585965 GG AA DSP NDST3:NM_004784: nonframeshift exon9:c.1899_1900A substitution A DSP:NM_001008844 :exon24:c.6672_667 nonframeshift 3AA,DSP:NM_00441 substitution 5:exon24:c.8469_84 70AA BTN2A1:NM_001197 233:exon7:c.1133_1 nonframeshift 134AA,BTN2A1:NM_ substitution 007049:exon8:c.131 6_1317AA OR10C1:NM_01394 nonframeshift 1:exon1:c.200_201T substitution T C6orf10:NM_006781 :exon23:c.963_964T T,C6orf10:NM_0012 nonframeshift 86475:exon24:c.915 substitution _916TT,C6orf10:NM _001286474:exon26: c.957_958TT LAMA2:NM_000426: exon11:c.1483_1484 nonframeshift AA,LAMA2:NM_0010 substitution 79823:exon11:c.148 3_1484AA TULP4:NM_0010074 66:exon4:c.658_659 nonframeshift TT,TULP4:NM_0202 substitution 45:exon4:c.658_659 TT 35% 65432766 7 Validation Negative MCC_274 7 157959803 157959804 CC TT PTPRN2 nonframeshift substitution Validation Negative MCC_274 8 141381218 141381219 CC TT TRAPPC9 nonframeshift substitution Validation Negative MCC_274 8 144776559 144776560 CC TT ZNF707 nonframeshift substitution Validation Negative MCC_274 9 94794739 GG AA SPTLC1 nonframeshift substitution Validation Negative MCC_274 9 111681585 111681586 GG AA IKBKAP nonframeshift substitution 94794738 65432767 GG AA GUSB nonframeshift substitution Validation Negative MCC_274 Validation Negative MCC_274 11 35282460 35282461 GG AA SLC1A2 nonframeshift substitution Validation Negative MCC_274 11 47440458 47440459 GG AA PSMC3 nonframeshift substitution Validation Negative MCC_274 11 134158754 134158755 GG AA GLB1L3 nonframeshift substitution Validation Negative MCC_274 12 64377777 GG AA SRGAP1 nonframeshift substitution Validation Negative MCC_274 12 106715308 106715309 CC TT TCP11L2 nonframeshift substitution Validation Negative MCC_274 12 116446736 116446737 GG AA MED13L nonframeshift substitution Validation Negative MCC_274 13 24797646 24797647 CC TT SPATA13 nonframeshift substitution Validation Negative MCC_274 14 25043614 25043615 AC TT CTSG nonframeshift substitution Validation Negative MCC_274 15 25924899 25924900 GG AA ATP10A nonframeshift substitution Validation Negative MCC_274 15 42743679 42743680 CC TT ZNF106 nonframeshift substitution Validation Negative MCC_274 15 89381954 89381955 GG AA ACAN nonframeshift substitution Validation Negative MCC_274 15 91308531 91308532 GG AA BLM nonframeshift substitution Validation Negative MCC_274 16 56480582 56480583 GG AA NUDT21 nonframeshift substitution Validation Negative MCC_274 17 3990754 3990755 CC TT ZZEF1 nonframeshift substitution 64377776 GUSB:NM_0012842 90:exon8:c.1166_11 67TT,GUSB:NM_00 1293105:exon8:c.94 7_948TT,GUSB:NM _001293104:exon9:c .1034_1035TT,GUS B:NM_000181:exon1 0:c.1604_1605TT PTPRN2:NM_13084 2:exon5:c.678_679A A,PTPRN2:NM_0028 47:exon6:c.729_730 AA,PTPRN2:NM_13 0843:exon6:c.729_7 30AA TRAPPC9:NM_0011 60372:exon8:c.1195 _1196AA,TRAPPC9: NM_031466:exon8:c .1489_1490AA ZNF707:NM_001288 808:exon4:c.867_86 8TT,ZNF707:NM_00 1288809:exon4:c.86 7_868TT,ZNF707:N M_001100599:exon5 :c.975_976TT,ZNF7 07:NM_001100598:e xon6:c.975_976TT,Z NF707:NM_0012888 06:exon6:c.975_976 TT,ZNF707:NM_001 288807:exon6:c.756 _757TT,ZNF707:NM _173831:exon7:c.97 5_976TT,ZNF707:N M_001288805:exon8 :c.975_976TT SPTLC1:NM_001281 303:exon15:c.1398_ 1399TT IKBKAP:NM_003640 :exon7:c.596_597TT SLC1A2:NM_004171 :exon11:c.1705_170 6TT,SLC1A2:NM_00 1195728:exon12:c.1 678_1679TT,SLC1A 2:NM_001252652:ex on12:c.1678_1679T T PSMC3:NM_002804: exon12:c.1247_1248 TT GLB1L3:NM_001080 407:exon7:c.699_70 0AA SRGAP1:NM_02076 2:exon2:c.117_118A A TCP11L2:NM_00128 6262:exon5:c.459_4 60TT,TCP11L2:NM_ 152772:exon5:c.459 _460TT MED13L:NM_01533 5:exon10:c.1481_14 82TT SPATA13:NM_0011 66271:exon2:c.579_ 580TT,SPATA13:NM _001286792:exon4:c .765_766TT CTSG:NM_001911:e xon4:c.430_431AA ATP10A:NM_024490 :exon21:c.4088_408 9TT ZNF106:NM_022473 :exon2:c.721_722AA ACAN:NM_001135:e xon3:c.131_132AA,A CAN:NM_013227:ex on3:c.131_132AA BLM:NM_000057:ex on9:c.2080_2081AA, BLM:NM_001287247 :exon9:c.2080_2081 AA,BLM:NM_001287 248:exon9:c.955_95 6AA,BLM:NM_00128 7246:exon10:c.2080 _2081AA NUDT21:NM_00700 6:exon3:c.336_337T T ZZEF1:NM_015113: exon14:c.2315_2316 AA NA NA NA 14 0 0% 21 11 34.38% NA NA NA 10 0 0% 18 17 48.57% NA NA NA 17 0 0% 29 12 29.27% NA NA NA 11 0 0% 16 23 58.97% NA NA NA 21 0 0% 28 13 31.71% NA NA NA 32 0 0% 32 28 46.67% NA NA NA 24 0 0% 3 14 82.35% NA NA NA 11 0 0% 2 14 87.50% NA NA NA 15 0 0% 22 11 33.33% NA NA NA 13 0 0% 11 13 54.17% NA NA NA 21 0 0% 29 21 NA NA NA 18 0 0% 31 27 46.55% NA NA NA 11 0 0% 28 20 41.67% NA NA NA 14 0 0% 29 14 32.56% NA NA NA 12 0 0% 22 12 35.29% NA NA NA 22 0 0% 21 18 46.15% NA NA NA 15 0 0% 27 13 32.50% NA NA NA 31 0 0% 19 16 45.71% NA NA NA 31 0 0% 27 15 35.71% NA NA NA 12 0 0% 20 11 35.48% 42% Validation Negative MCC_274 17 7574003 7574004 GG AA TP53 TP53:NM_00112611 5:exon6:c.627_628T T,TP53:NM_001276 697:exon6:c.546_54 7TT,TP53:NM_0011 26118:exon9:c.906_ 907TT,TP53:NM_00 nonframeshift 0546:exon10:c.1023 substitution _1024TT,TP53:NM_ 001126112:exon10:c .1023_1024TT,TP53 :NM_001276760:exo n10:c.906_907TT,TP 53:NM_001276761:e xon10:c.906_907TT Validation Negative MCC_274 17 55195761 55195762 GG AA AKAP1 nonframeshift substitution Validation Negative MCC_274 17 66915513 66915514 GG AA ABCA8 nonframeshift substitution Validation Negative MCC_274 19 35556450 35556451 GG AA HPN nonframeshift substitution Validation Negative MCC_274 19 44047578 44047579 GG AA XRCC1 nonframeshift substitution Validation Negative MCC_274 19 51358216 51358217 GG AA KLK3 nonframeshift substitution Validation Negative MCC_274 19 58231995 58231996 CT AA ZNF671 nonframeshift substitution Validation Negative MCC_274 20 51870952 51870953 CC TT TSHZ2 nonframeshift substitution 34962790 34962791 GG AA FAM47B nonframeshift substitution Validation Negative MCC_274 X Validation Negative MCC_274 1 11888224 11888224 G A CLCN6 nonsynonymo us SNV Validation Negative MCC_274 1 18808285 18808285 G A KLHDC7A nonsynonymo us SNV Validation Negative MCC_274 1 19451037 19451037 C T UBR4 Validation Negative MCC_274 1 19992845 19992845 C T HTR6 Validation Negative MCC_274 1 22160002 22160002 G A HSPG2 Validation Negative MCC_274 1 26671741 26671741 G A AIM1L Validation Negative MCC_274 1 26795539 26795539 G A DHDDS Validation Negative MCC_274 1 29319861 29319861 G A EPB41 AKAP1:NM_003488: exon9:c.2520_2521A A,AKAP1:NM_00124 2902:exon10:c.2520 _2521AA,AKAP1:NM _001242903:exon10: c.2520_2521AA ABCA8:NM_001288 986:exon13:c.1716_ 1717TT,ABCA8:NM_ 007168:exon13:c.17 16_1717TT,ABCA8: NM_001288985:exo n14:c.1716_1717TT HPN:NM_182983:ex on11:c.915_916AA, HPN:NM_002151:ex on12:c.915_916AA XRCC1:NM_006297: exon17:c.1867_1868 TT KLK3:NM_00103004 7:exon1:c.5_6AA,KL K3:NM_001030048:e xon1:c.5_6AA,KLK3: NM_001648:exon1:c .5_6AA ZNF671:NM_024833 :exon4:c.1458_1459 TT TSHZ2:NM_0011934 21:exon2:c.946_947 TT,TSHZ2:NM_1734 85:exon2:c.955_956 TT FAM47B:NM_15263 1:exon1:c.1842_184 3AA CLCN6:NM_001256 959:exon10:c.G836A :p.G279E,CLCN6:N M_001286:exon11:c. G902A:p.G301E KLHDC7A:NM_1523 75:exon1:c.G810A:p. M270I ID=COSM4 4906;OCC NA URENCE= 1(skin) NA 11 0 0% 19 10 34.48% NA NA NA 16 0 0% 31 11 26.19% NA NA NA 22 0 0% 22 12 35.29% NA NA NA 10 0 0% 24 11 31.43% NA NA NA 16 0 0% 14 10 41.67% NA NA NA 12 0 0% 31 18 36.73% NA NA NA 10 0 0% 20 20 NA NA NA 21 0 0% 23 11 32.35% NA NA NA 11 0 0% 0 NA NA NA 16 0 0% 18 15 45.45% NA NA NA 12 0 0% 26 20 43.48% NA 11 0 0% 11 17 60.71% NA 12 0 0% 31 21 40.38% NA 10 0 0% 21 13 38.24% NA 15 0 0% 24 22 47.83% NA 20 0 0% 17 15 46.88% rs147738 349 36 0 0% 22 13 37.14% ID=COSM9 01429;OC UBR4:NM_020765:e CURENCE nonsynonymo xon65:c.G9586A:p.E =1(large_in NA us SNV 3196K testine),1(e ndometriu m) HTR6:NM_000871:e nonsynonymo xon1:c.C599T:p.P20 NA NA us SNV 0L HSPG2:NM_001291 860:exon79:c.C1093 nonsynonymo 9T:p.R3647C,HSPG NA NA 2:NM_005529:exon7 us SNV 9:c.C10936T:p.R364 6C AIM1L:NM_0010397 nonsynonymo 75:exon2:c.C1408T: NA NA us SNV p.P470S DHDDS:NM_001243 564:exon8:c.G817A: p.E273K,DHDDS:NM _001243565:exon8:c nonsynonymo .G802A:p.E268K,DH NA NA us SNV DDS:NM_024887:ex on9:c.G922A:p.E308 K,DHDDS:NM_2058 61:exon9:c.G919A:p. E307K EPB41:NM_0011660 05:exon3:c.G488A:p. R163K,EPB41:NM_0 nonsynonymo 01166006:exon3:c.G NA us SNV 488A:p.R163K,EPB4 1:NM_203343:exon3 :c.G488A:p.R163K NA 12 50% 100% Validation Negative MCC_274 1 36226211 36226211 G C CLSPN nonsynonymo us SNV Validation Negative MCC_274 1 39549984 39549984 G A MACF1 nonsynonymo us SNV Validation Negative MCC_274 1 42875792 42875792 G A RIMKLA nonsynonymo us SNV Validation Negative MCC_274 1 52896886 52896886 G A ZCCHC11 nonsynonymo us SNV Validation Negative MCC_274 1 55223462 55223462 G A PARS2 nonsynonymo us SNV Validation Negative MCC_274 1 57161724 57161724 G A PRKAA2 nonsynonymo us SNV Validation Negative MCC_274 1 65047890 65047890 C T CACHD1 nonsynonymo us SNV CLSPN:NM_001190 481:exon8:c.C1311G :p.N437K,CLSPN:N M_022111:exon8:c. C1311G:p.N437K MACF1:NM_012090: exon1:c.G94A:p.G32 R RIMKLA:NM_173642 :exon4:c.G619A:p.G 207S ZCCHC11:NM_0010 09881:exon28:c.C45 10T:p.P1504S,ZCCH C11:NM_015269:exo n28:c.C4507T:p.P15 03S PARS2:NM_152268: exon2:c.C1373T:p.A 458V PRKAA2:NM_00625 2:exon6:c.G680A:p. R227Q CACHD1:NM_02092 5:exon3:c.C160T:p.R 54W NA NA NA 22 0 0% 17 15 46.88% NA NA NA 12 0 0% 27 15 35.71% NA NA NA 10 0 0% 17 14 45.16% 0.000399 NA 16 0 0% 39 33 45.83% NA NA NA NA 20 0 0% 21 22 51.16% NA NA NA 33 0 0% 22 24 52.17% NA NA NA 25 0 0% 18 15 45.45% NA NA 30 0 0% 17 21 55.26% NA NA 30 0 0% 27 15 35.71% NA NA 10 0 0% 2 22 91.67% NA NA 28 0 0% 4 23 85.19% NA NA 11 0 0% 18 13 41.94% NA NA 12 0 0% 24 14 36.84% NA NA 12 0 0% 15 14 48.28% NA NA 12 0 0% 25 29 53.70% NA NA 21 0 0% 30 22 42.31% NA NA 32 0 0% 23 20 46.51% NA NA 24 0 0% 24 12 33.33% NA NA 13 0 0% 28 23 45.10% NA NA 16 0 0% 23 31 57.41% NA NA 10 0 0% 23 19 45.24% NA NA 14 0 0% 14 22 61.11% NA NA 11 0 0% 14 11 NA NA 22 0 0% 19 23 54.76% NA NA 37 0 0% 26 28 51.85% NA NA 26 0 0% 32 12 27.27% Validation Negative MCC_274 1 65117895 65117895 G A CACHD1:NM_00129 3274:exon9:c.G554A nonsynonymo CACHD1 :p.G185E,CACHD1: NA us SNV NM_020925:exon10: c.G1289A:p.G430E Validation Negative MCC_274 1 77752638 77752638 G A AK5 Validation Negative MCC_274 1 111702101 111702101 T A Validation Negative MCC_274 1 115223013 115223013 C T Validation Negative MCC_274 1 153905207 153905207 G A Validation Negative MCC_274 1 156878799 156878799 C T Validation Negative MCC_274 1 157068587 157068587 C T Validation Negative MCC_274 1 158533117 158533117 G A Validation Negative MCC_274 1 160466127 160466127 C T Validation Negative MCC_274 1 169511239 169511239 C T Validation Negative MCC_274 1 173799880 173799880 C T Validation Negative MCC_274 1 178482342 178482342 G A Validation Negative MCC_274 1 200818124 200818124 A G Validation Negative MCC_274 1 201182108 201182108 G A Validation Negative MCC_274 1 201868514 201868514 G A Validation Negative MCC_274 1 204128602 204128602 C T Validation Negative MCC_274 1 207648396 207648396 G A Validation Negative MCC_274 1 214815829 214815829 C T Validation Negative MCC_274 1 220344320 220344320 C T nonsynonymo AK5:NM_174858:exo NA us SNV n2:c.G73A:p.G25R CEPT1:NM_0010077 94:exon3:c.T439A:p. nonsynonymo CEPT1 S147T,CEPT1:NM_0 NA us SNV 06090:exon3:c.T439 A:p.S147T AMPD1:NM_001172 626:exon5:c.G721A: nonsynonymo AMPD1 p.D241N,AMPD1:NM NA us SNV _000036:exon6:c.G7 33A:p.D245N DENND4B:NM_0148 DENND4 nonsynonymo 56:exon23:c.C3670T NA B us SNV :p.P1224S PEAR1:NM_001080 nonsynonymo PEAR1 471:exon11:c.C1382 NA us SNV T:p.P461L ETV3L:NM_0010043 nonsynonymo ETV3L 41:exon3:c.G397A:p. NA us SNV E133K OR6P1:NM_001160 nonsynonymo OR6P1 325:exon1:c.C278T: NA us SNV p.S93F SLAMF6:NM_00118 4714:exon2:c.G106A nonsynonymo SLAMF6 :p.E36K,SLAMF6:N NA us SNV M_052931:exon2:c. G106A:p.E36K F5:NM_000130:exon nonsynonymo F5 13:c.G3089A:p.R103 NA us SNV 0Q DARS2:NM_018122: nonsynonymo DARS2 exon4:c.C377T:p.P1 NA us SNV 26L TEX35:NM_0011707 22:exon1:c.G19A:p. E7K,TEX35:NM_001 170723:exon1:c.G19 nonsynonymo TEX35 A:p.E7K,TEX35:NM_ NA us SNV 001170724:exon1:c. G19A:p.E7K,TEX35: NM_032126:exon1:c .G19A:p.E7K CAMSAP2:NM_2034 CAMSAP nonsynonymo 59:exon11:c.A2227G NA 2 us SNV :p.T743A IGFN1:NM_0011645 nonsynonymo IGFN1 86:exon12:c.G8087A NA us SNV :p.G2696D LMOD1:NM_012134: nonsynonymo LMOD1 exon2:c.C1627T:p.P NA us SNV 543S REN:NM_000537:ex nonsynonymo REN on5:c.G614A:p.R205 NA us SNV K CR2:NM_001877:ex on13:c.G2374A:p.E7 nonsynonymo CR2 92K,CR2:NM_00100 NA us SNV 6658:exon14:c.G255 1A:p.E851K CENPF:NM_016343: nonsynonymo CENPF exon12:c.C4148T:p. NA us SNV P1383L RAB3GAP2:NM_012 RAB3GA nonsynonymo 414:exon24:c.G2720 NA P2 us SNV A:p.G907E 44% Validation Negative MCC_274 Validation Negative MCC_274 1 235629030 235629030 G 1 237791370 237791370 C A T B3GALNT2:NM_152 490:exon7:c.C764T: B3GALNT nonsynonymo p.A255V,B3GALNT2 NA 2 us SNV :NM_001277155:exo n8:c.C887T:p.A296V RYR2 NA NA 32 0 0% 21 11 34.38% ID=COSM1 RYR2:NM_001035:e 340455;OC nonsynonymo xon41:c.C6430T:p.R CURENCE NA us SNV 2144C =1(large_in testine) NA 25 0 0% 21 16 43.24% Validation Negative MCC_274 1 244724187 244724187 C T C1orf101 nonsynonymo us SNV Validation Negative MCC_274 1 246921571 246921571 G A SCCPDH nonsynonymo us SNV Validation Negative MCC_274 1 247769672 247769672 C T OR2G3 nonsynonymo us SNV Validation Negative MCC_274 2 9658325 9658325 G A ADAM17 nonsynonymo us SNV Validation Negative MCC_274 2 21237339 21237339 C T APOB nonsynonymo us SNV Validation Negative MCC_274 2 27802824 27802824 G A C2orf16 nonsynonymo us SNV Validation Negative MCC_274 2 58453904 58453904 G A FANCL nonsynonymo us SNV Validation Negative MCC_274 2 75923380 75923380 G A GCFC2 nonsynonymo us SNV Validation Negative MCC_274 2 143913169 143913169 G A ARHGAP nonsynonymo 15 us SNV Validation Negative MCC_274 2 163228556 163228556 G A KCNH7 nonsynonymo us SNV Validation Negative MCC_274 2 169801466 169801466 A T ABCB11 nonsynonymo us SNV Validation Negative MCC_274 2 170396621 170396621 C T FASTKD1 nonsynonymo us SNV Validation Negative MCC_274 2 179407083 179407083 C T TTN nonsynonymo us SNV Validation Negative MCC_274 2 179424596 179424596 C T TTN nonsynonymo us SNV C1orf101:NM_00124 2340:exon7:c.C794T :p.T265I,C1orf101:N M_001130957:exon1 0:c.C1247T:p.T416I, C1orf101:NM_17380 7:exon10:c.C1247T: p.T416I SCCPDH:NM_01600 2:exon6:c.G608A:p. G203D OR2G3:NM_001001 914:exon1:c.C785T: p.P262L ADAM17:NM_00318 3:exon9:c.C1009T:p. L337F APOB:NM_000384:e xon24:c.G3823A:p.E 1275K C2orf16:NM_032266 :exon1:c.G3385A:p. G1129R FANCL:NM_001114 636:exon4:c.C232T: p.P78S,FANCL:NM_ 018062:exon4:c.C23 2T:p.P78S GCFC2:NM_001201 334:exon5:c.C272T: p.S91F,GCFC2:NM_ 003203:exon5:c.C77 9T:p.S260F ARHGAP15:NM_018 460:exon2:c.G110A: p.R37K KCNH7:NM_033272: exon16:c.C3374T:p. S1125F ABCB11:NM_00374 2:exon20:c.T2349A: p.F783L FASTKD1:NM_0012 81476:exon10:c.G18 85A:p.D629N,FAST KD1:NM_024622:ex on10:c.G1885A:p.D6 29N TTN:NM_003319:ex on177:c.G70205A:p. G23402E,TTN:NM_1 33432:exon178:c.G7 0580A:p.G23527E,T TN:NM_133437:exon 178:c.G70781A:p.G2 3594E,TTN:NM_133 378:exon298:c.G896 96A:p.G29899E,TTN :NM_001256850:exo n299:c.G92477A:p.G 30826E,TTN:NM_00 1267550:exon349:c. G97400A:p.G32467 E TTN:NM_003319:ex on154:c.G59068A:p. D19690N,TTN:NM_1 33432:exon155:c.G5 9443A:p.D19815N,T TN:NM_133437:exon 155:c.G59644A:p.D1 9882N,TTN:NM_133 378:exon275:c.G785 59A:p.D26187N,TTN :NM_001256850:exo n276:c.G81340A:p.D 27114N,TTN:NM_00 1267550:exon326:c. G86263A:p.D28755 N NA NA NA 35 0 0% 21 24 53.33% NA NA NA 32 0 0% 23 34 59.65% NA NA NA 25 0 0% 19 16 45.71% NA NA NA 25 0 0% 13 18 58.06% NA NA NA 18 0 0% 15 13 46.43% NA NA NA 22 0 0% 18 20 52.63% NA NA NA 32 0 0% 29 28 49.12% NA NA NA 29 0 0% 7 12 63.16% NA NA NA 21 0 0% 16 19 54.29% NA NA NA 32 0 0% 27 24 47.06% NA NA NA 23 0 0% 21 19 47.50% NA NA NA 35 0 0% 22 13 37.14% NA NA NA 20 0 0% 31 22 41.51% ID=COSM1 305989,CO SM130598 7,COSM13 05986,CO SM130598 NA 5,COSM13 05988;OC CURENCE =1(urinary_ tract) NA 20 0 0% 19 34 64.15% Validation Negative MCC_274 Validation Negative MCC_274 2 179470176 179470176 G 2 179496007 179496007 C A T TTN TTN:NM_003319:ex on107:c.C26651T:p. S8884F,TTN:NM_13 3432:exon108:c.C27 026T:p.S9009F,TTN: NM_133437:exon10 8:c.C27227T:p.S907 nonsynonymo 6F,TTN:NM_133378: NA us SNV exon228:c.C46142T: p.S15381F,TTN:NM _001256850:exon22 9:c.C48923T:p.S163 08F,TTN:NM_00126 7550:exon279:c.C53 846T:p.S17949F NA NA 20 0 0% 34 26 43.33% TTN TTN:NM_003319:ex on65:c.G16573A:p.G 5525R,TTN:NM_133 432:exon66:c.G1694 8A:p.G5650R,TTN:N M_133437:exon66:c. G17149A:p.G5717R, nonsynonymo TTN:NM_133378:ex NA us SNV on186:c.G36064A:p. G12022R,TTN:NM_0 01256850:exon187:c .G38845A:p.G12949 R,TTN:NM_0012675 50:exon237:c.G4376 8A:p.G14590R NA NA 16 0 0% 19 12 38.71% NA NA 20 0 0% 16 18 52.94% rs185921 345 12 0 0% 27 11 28.95% NA NA 23 0 0% 19 19 TTN:NM_133378:ex on68:c.T17054A:p.I5 685N,TTN:NM_0012 nonsynonymo 56850:exon69:c.T19 NA us SNV 835A:p.I6612N,TTN: NM_001267550:exo n71:c.T20786A:p.I69 29N TTN:NM_001256850 :exon3:c.G289A:p.V 97M,TTN:NM_00126 7550:exon3:c.G289A :p.V97M,TTN:NM_00 3319:exon3:c.G289A :p.V97M,TTN:NM_13 nonsynonymo 3378:exon3:c.G289A NA us SNV :p.V97M,TTN:NM_13 3379:exon3:c.G289A :p.V97M,TTN:NM_13 3432:exon3:c.G289A :p.V97M,TTN:NM_13 3437:exon3:c.G289A :p.V97M COL5A2:NM_00039 nonsynonymo 3:exon27:c.C1811T: NA us SNV p.S604F Validation Negative MCC_274 2 179590145 179590145 A T TTN Validation Negative MCC_274 2 179666871 179666871 C T TTN Validation Negative MCC_274 2 189927956 189927956 G A COL5A2 T SLC39A10:NM_0011 27257:exon7:c.C177 SLC39A1 nonsynonymo 5T:p.P592L,SLC39A NA 0 us SNV 10:NM_020342:exon 7:c.C1775T:p.P592L NA NA 18 0 0% 17 12 41.38% T KANSL1L:NM_1525 nonsynonymo KANSL1L 19:exon2:c.G478A:p. NA us SNV D160N NA NA 29 0 0% 31 17 35.42% ID=COSM1 227868,CO SM122786 STK11IP:NM_05290 nonsynonymo 7,COSM12 2:exon13:c.C1177T: NA us SNV 27866;OC p.R393C CURENCE =1(large_in testine) NA 10 0 0% 23 26 53.06% Validation Negative MCC_274 Validation Negative MCC_274 2 196581439 196581439 C 2 211018829 211018829 C Validation Negative MCC_274 2 220471784 220471784 C T STK11IP Validation Negative MCC_274 2 224744896 224744896 G A WDFY1 Validation Negative MCC_274 2 233103330 233103330 C T DIS3L2 Validation Negative MCC_274 2 238287810 238287810 G A COL6A3 Validation Negative MCC_274 3 8944088 8944088 C T RAD18 Validation Negative MCC_274 3 49160719 49160719 G A LAMB2 Validation Negative MCC_274 3 49160910 49160910 G A LAMB2 WDFY1:NM_020830 nonsynonymo :exon11:c.C1118T:p. us SNV S373F DIS3L2:NM_001257 281:exon11:c.C1292 nonsynonymo T:p.A431V,DIS3L2:N us SNV M_152383:exon11:c. C1292T:p.A431V COL6A3:NM_05716 4:exon4:c.C745T:p.P 249S,COL6A3:NM_0 57165:exon5:c.C134 nonsynonymo 8T:p.P450S,COL6A3 us SNV :NM_057167:exon5: c.C1348T:p.P450S,C OL6A3:NM_004369: exon6:c.C1966T:p.P 656S RAD18:NM_020165: nonsynonymo exon10:c.G1144A:p. us SNV E382K LAMB2:NM_002292: nonsynonymo exon26:c.C4070T:p. us SNV P1357L LAMB2:NM_002292: nonsynonymo exon25:c.C3952T:p. us SNV L1318F 0.001198 50% NA NA NA 22 0 0% 19 19 NA NA NA 18 0 0% 20 22 52.38% NA NA NA 24 0 0% 31 26 45.61% NA NA NA 23 0 0% 4 17 80.95% rs141074 838 11 0 0% 2 23 NA 12 0 0% 1 17 94.44% NA NA 0.000399 NA 50% 92% GLT8D1:NM_018446 :exon10:c.G1057A:p. D353N,GLT8D1:NM _152932:exon10:c.G 1057A:p.D353N,GLT 8D1:NM_001010983: exon11:c.G1057A:p. D353N,GLT8D1:NM _001278280:exon11: c.G1057A:p.D353N, GLT8D1:NM_001278 281:exon11:c.G1057 A:p.D353N ZNF717:NM_001128 223:exon5:c.A2395G :p.T799A,ZNF717:N M_001290208:exon5 :c.A2395G:p.T799A, ZNF717:NM_001290 209:exon5:c.A2245G :p.T749A ZNF717:NM_001128 223:exon5:c.G2389C :p.D797H,ZNF717:N M_001290208:exon5 :c.G2389C:p.D797H, ZNF717:NM_001290 209:exon5:c.G2239C :p.D747H ZNF717:NM_001128 223:exon5:c.A2357G :p.Y786C,ZNF717:N M_001290208:exon5 :c.A2357G:p.Y786C, ZNF717:NM_001290 209:exon5:c.A2207G :p.Y736C Validation Negative MCC_274 3 52728920 52728920 C T GLT8D1 nonsynonymo us SNV Validation Negative MCC_274 3 75786379 75786379 T C ZNF717 nonsynonymo us SNV Validation Negative MCC_274 3 75786385 75786385 C G ZNF717 nonsynonymo us SNV Validation Negative MCC_274 3 75786417 75786417 T C ZNF717 nonsynonymo us SNV SLC9C1 ID=COSM1 SLC9C1:NM_183061 nonsynonymo 616721;OC :exon5:c.C332T:p.S1 NA us SNV CURENCE 11L =2(liver) Validation Negative MCC_274 3 111996694 111996694 G A Validation Negative MCC_274 3 164907651 164907651 G A Validation Negative MCC_274 3 196454893 196454893 G A Validation Negative MCC_274 4 16000011 16000011 T A Validation Negative MCC_274 4 55151632 55151632 G A Validation Negative MCC_274 4 80328538 80328538 C T Validation Negative MCC_274 4 83778170 83778170 C T Validation Negative MCC_274 4 85729505 85729505 G A Validation Negative MCC_274 4 94031987 94031987 A C Validation Negative MCC_274 4 106374790 106374790 T G SLITRK3:NM_01492 nonsynonymo SLITRK3 6:exon2:c.C968T:p.S us SNV 323F PIGX:NM_00116630 4:exon4:c.G418A:p. nonsynonymo PIGX D140N,PIGX:NM_01 us SNV 7861:exon4:c.G418A :p.D140N PROM1:NM_001145 851:exon13:c.A1652 T:p.Y551F,PROM1: NM_001145852:exo n13:c.A1652T:p.Y55 1F,PROM1:NM_001 145847:exon14:c.A1 652T:p.Y551F,PRO nonsynonymo M1:NM_001145848: PROM1 us SNV exon14:c.A1652T:p. Y551F,PROM1:NM_ 001145849:exon14:c .A1679T:p.Y560F,P ROM1:NM_0011458 50:exon14:c.A1679T :p.Y560F,PROM1:N M_006017:exon14:c. A1679T:p.Y560F PDGFRA:NM_00620 nonsynonymo PDGFRA 6:exon17:c.G2418A: us SNV p.M806I GK2:NM_033214:ex nonsynonymo GK2 on1:c.G817A:p.G273 us SNV R SEC31A:NM_01621 1:exon14:c.G1699A: p.G567R,SEC31A:N M_001191049:exon1 5:c.G1801A:p.G601 R,SEC31A:NM_0010 77206:exon16:c.G18 nonsynonymo 16A:p.G606R,SEC3 SEC31A us SNV 1A:NM_001077207:e xon16:c.G1816A:p.G 606R,SEC31A:NM_0 01077208:exon16:c. G1816A:p.G606R,S EC31A:NM_014933: exon16:c.G1816A:p. G606R WDFY3:NM_014991 nonsynonymo WDFY3 :exon15:c.C2411T:p. us SNV P804L GRID2:NM_0012868 38:exon3:c.A333C:p. nonsynonymo GRID2 K111N,GRID2:NM_0 us SNV 01510:exon4:c.A618 C:p.K206N PPA2 NA NA NA 23 0 0% 2 14 87.50% NA NA rs143986 834 17 0 0% 20 13 39.39% NA NA rs141017 925 18 0 0% 20 12 37.50% NA NA rs147032 196 20 0 0% 27 11 28.95% NA 13 0 0% 1 21 95.45% NA NA NA 22 0 0% 4 17 80.95% NA NA NA 19 0 0% 0 14 NA NA NA 21 0 0% 22 12 35.29% NA NA NA 22 0 0% 25 13 34.21% NA NA NA 23 0 0% 31 27 46.55% NA NA NA 17 0 0% 21 18 46.15% NA NA NA 28 0 0% 19 16 45.71% NA NA NA 33 0 0% 20 24 54.55% PPA2:NM_006903:e nonsynonymo xon3:c.A232C:p.I78L NA us SNV ,PPA2:NM_176869:e xon3:c.A232C:p.I78L NA NA 21 0 0% 18 14 43.75% 100% Validation Negative MCC_274 4 123342510 123342510 G A ADAD1 ADAD1:NM_001159 285:exon11:c.G1549 A:p.E517K,ADAD1:N nonsynonymo M_001159295:exon1 NA us SNV 1:c.G1528A:p.E510K ,ADAD1:NM_139243 :exon12:c.G1582A:p. E528K NA NA 32 0 0% 19 10 34.48% DCLK2:NM_0010402 60:exon9:c.C1388A: nonsynonymo p.T463N,DCLK2:NM NA us SNV _001040261:exon10: c.C1439A:p.T480N NA NA 21 0 0% 25 20 44.44% NA NA NA 24 0 0% 9 19 67.86% NA NA NA 24 0 0% 18 19 51.35% NA NA NA 23 0 0% 33 30 47.62% NA NA NA 13 0 0% 26 15 36.59% NA NA NA 13 0 0% 20 19 48.72% NA NA NA 32 0 0% 60 23 27.71% NA NA NA 17 0 0% 27 17 38.64% ID=COSM1 DNAH5:NM_001369: nonsynonymo 695440;OC NA exon34:c.G5648A:p. us SNV CURENCE R1883Q =1(skin) NA 26 0 0% 24 20 45.45% Validation Negative MCC_274 4 151153577 151153577 C A DCLK2 Validation Negative MCC_274 4 156773440 156773440 C T ASIC5 Validation Negative MCC_274 4 164246888 164246888 C T Validation Negative MCC_274 4 169432896 169432896 C T Validation Negative MCC_274 4 184243465 184243465 C G Validation Negative MCC_274 4 185350191 185350191 G A Validation Negative MCC_274 5 822007 822007 C T Validation Negative MCC_274 5 13751234 13751234 C T ASIC5:NM_017419:e nonsynonymo xon4:c.G614A:p.G20 us SNV 5E NPY1R:NM_000909: nonsynonymo NPY1R exon3:c.G722A:p.R2 us SNV 41K PALLD:NM_0011661 08:exon2:c.C241T:p. nonsynonymo PALLD H81Y,PALLD:NM_01 us SNV 6081:exon2:c.C241T :p.H81Y CLDN24:NM_00118 nonsynonymo CLDN24 5149:exon1:c.G115C us SNV :p.D39H nonsynonymo IRF2:NM_002199:ex IRF2 us SNV on2:c.C28T:p.P10S ZDHHC11:NM_0247 nonsynonymo ZDHHC11 86:exon9:c.G1027A: us SNV p.G343R DNAH5:NM_001369: nonsynonymo DNAH5 exon65:c.G11164A:p us SNV .G3722S Validation Negative MCC_274 5 13841076 13841076 C T DNAH5 Validation Negative MCC_274 5 23527367 23527367 G A PRDM9 Validation Negative MCC_274 5 24535286 24535286 G A Validation Negative MCC_274 5 34033447 34033447 C T Validation Negative MCC_274 5 37183178 37183178 G A Validation Negative MCC_274 5 38950412 38950412 C T Validation Negative MCC_274 5 43040145 43040145 C T Validation Negative MCC_274 5 52161623 52161623 G A Validation Negative MCC_274 5 68473114 68473114 C T Validation Negative MCC_274 5 74443210 74443210 C T Validation Negative MCC_274 5 79734338 79734338 G A Validation Negative MCC_274 5 89938673 89938673 G A Validation Negative MCC_274 5 98129308 98129308 C T Validation Negative MCC_274 5 126734387 126734387 C T Validation Negative MCC_274 5 137219091 137219091 C T PRDM9:NM_020227: nonsynonymo exon11:c.G2170A:p. us SNV E724K CDH10:NM_006727: nonsynonymo CDH10 exon5:c.C749T:p.S2 us SNV 50L C1QTNF3:NM_0309 45:exon3:c.G313A:p. nonsynonymo C1QTNF3 G105R,C1QTNF3:N us SNV M_181435:exon3:c. G532A:p.G178R C5orf42:NM_023073 nonsynonymo C5orf42 :exon26:c.C5105T:p. us SNV S1702L RICTOR:NM_00128 5439:exon31:c.G353 8A:p.E1180K,RICTO nonsynonymo R:NM_001285440:ex RICTOR us SNV on31:c.G2683A:p.E8 95K,RICTOR:NM_15 2756:exon31:c.G353 8A:p.E1180K ANXA2R:NM_00101 nonsynonymo ANXA2R 4279:exon1:c.G4A:p. us SNV E2K ITGA1:NM_181501:e nonsynonymo ITGA1 xon6:c.G596A:p.R19 us SNV 9K CCNB1:NM_031966: nonsynonymo CCNB1 exon8:c.C1132T:p.P us SNV 378S ANKRD31:NM_0011 nonsynonymo ANKRD31 64443:exon14:c.G20 us SNV 26A:p.E676K ZFYVE16:NM_00128 4237:exon3:c.G1834 A:p.G612R,ZFYVE1 6:NM_014733:exon3 :c.G1834A:p.G612R, nonsynonymo ZFYVE16 ZFYVE16:NM_00110 us SNV 5251:exon4:c.G1834 A:p.G612R,ZFYVE1 6:NM_001284236:ex on4:c.G1834A:p.G61 2R GPR98:NM_032119: nonsynonymo GPR98 exon13:c.G2368A:p. us SNV E790K RGMB:NM_0010127 nonsynonymo RGMB 61:exon5:c.C1288T: us SNV p.H430Y MEGF10:NM_00125 6545:exon7:c.C679T nonsynonymo MEGF10 :p.P227S,MEGF10:N us SNV M_032446:exon8:c. C679T:p.P227S MYOT:NM_0011359 40:exon7:c.C283T:p. nonsynonymo MYOT P95S,MYOT:NM_00 us SNV 6790:exon7:c.C835T :p.P279S NA NA NA 10 0 0% 21 21 NA NA NA 18 0 0% 27 21 43.75% NA NA NA 17 0 0% 17 10 37.04% NA NA NA 29 0 0% 17 25 59.52% NA NA NA 42 0 0% 41 19 31.67% NA NA NA 12 0 0% 30 24 44.44% NA NA NA 23 0 0% 25 14 35.90% NA NA NA 32 0 0% 13 20 60.61% NA NA NA 34 0 0% 21 18 46.15% NA NA NA 24 0 0% 23 20 46.51% NA NA NA 25 0 0% 32 26 44.83% 0.000399 NA 21 0 0% 28 31 52.54% NA 50% NA NA NA 21 0 0% 6 23 79.31% NA NA NA 27 0 0% 2 21 91.30% Validation Negative MCC_274 5 140774692 140774692 C T PCDHGA nonsynonymo 8 us SNV Validation Negative MCC_274 5 140778283 140778283 G A PCDHGB nonsynonymo 5 us SNV Validation Negative MCC_274 5 156186334 156186334 G A SGCD nonsynonymo us SNV Validation Negative MCC_274 5 168176522 168176522 C T SLIT3 nonsynonymo us SNV Validation Negative MCC_274 6 13595787 13595787 C T SIRT5 Validation Negative MCC_274 6 25966953 25966953 T G TRIM38 Validation Negative MCC_274 6 27860681 27860681 G A Validation Negative MCC_274 6 31079984 31079984 G A Validation Negative MCC_274 6 49754497 49754497 G A Validation Negative MCC_274 6 52131475 52131475 C T Validation Negative MCC_274 6 86197145 86197145 G A Validation Negative MCC_274 6 90406274 90406274 C T NA NA NA 18 0 0% 3 22 NA NA NA 10 0 0% 4 30 88.24% NA NA NA 23 0 0% 4 26 86.67% NA NA NA 25 0 0% 0 17 SIRT5:NM_0012428 27:exon5:c.C230T:p. S77L,SIRT5:NM_001 193267:exon6:c.C55 nonsynonymo 4T:p.S185L,SIRT5:N NA us SNV M_012241:exon6:c. C554T:p.S185L,SIR T5:NM_031244:exon 6:c.C554T:p.S185L NA NA 15 0 0% 16 13 44.83% NA NA NA 12 0 0% 27 24 47.06% NA NA NA 13 0 0% 23 33 58.93% NA NA NA 10 0 0% 20 14 41.18% NA NA NA 19 0 0% 32 25 43.86% NA NA NA 15 0 0% 24 18 42.86% NA NA NA 21 0 0% 22 21 48.84% ID=COSM1 MDN1:NM_014611:e nonsynonymo 38579;OC xon60:c.G9188A:p.R NA us SNV CURENCE 3063K =1(skin) NA 21 0 0% 31 15 32.61% TRIM38:NM_006355 nonsynonymo :exon3:c.T203G:p.M us SNV 68R HIST1H2AM:NM_00 HIST1H2 nonsynonymo 3514:exon1:c.C247T AM us SNV :p.H83Y C6orf15:NM_014070 nonsynonymo C6orf15 :exon2:c.C152T:p.S5 us SNV 1F PGK2:NM_138733:e nonsynonymo PGK2 xon1:c.C404T:p.P13 us SNV 5L MCM3:NM_0012704 72:exon14:c.G2122A nonsynonymo MCM3 :p.D708N,MCM3:NM us SNV _002388:exon15:c.G 2227A:p.D743N NT5E:NM_00120481 3:exon5:c.G1042A:p. nonsynonymo NT5E G348S,NT5E:NM_00 us SNV 2526:exon5:c.G1042 A:p.G348S MDN1 Validation Negative MCC_274 6 99365486 C T FBXL4 nonsynonymo us SNV Validation Negative MCC_274 6 105474337 105474337 A T LIN28B nonsynonymo us SNV Validation Negative MCC_274 6 110953286 110953286 C T CDK19 nonsynonymo us SNV Validation Negative MCC_274 6 136597405 136597405 C T BCLAF1 nonsynonymo us SNV Validation Negative MCC_274 6 146125636 146125636 G A FBXO30 nonsynonymo us SNV Validation Negative MCC_274 6 152712577 152712577 T A SYNE1 nonsynonymo us SNV Validation Negative MCC_274 6 154428622 154428622 A C OPRM1 nonsynonymo us SNV Validation Negative MCC_274 6 160198363 160198363 C T ACAT2 nonsynonymo us SNV Validation Negative MCC_274 6 170070781 170070781 G A WDR27 nonsynonymo us SNV Validation Negative MCC_274 7 14622713 14622713 C T DGKB nonsynonymo us SNV Validation Negative MCC_274 7 20418827 20418827 C T ITGB8 nonsynonymo us SNV Validation Negative MCC_274 7 31735092 31735092 C T PPP1R17 nonsynonymo us SNV 99365486 PCDHGA8:NM_0140 04:exon1:c.C2312T: p.P771L,PCDHGA8: NM_032088:exon1:c .C2312T:p.P771L PCDHGB5:NM_0189 25:exon1:c.G589A:p. E197K,PCDHGB5:N M_032099:exon1:c. G589A:p.E197K SGCD:NM_0011282 09:exon8:c.G803A:p. G268E,SGCD:NM_0 00337:exon9:c.G806 A:p.G269E SLIT3:NM_00127194 6:exon19:c.G2092A: p.E698K,SLIT3:NM_ 003062:exon19:c.G2 092A:p.E698K FBXL4:NM_012160: exon4:c.G622A:p.E2 08K,FBXL4:NM_001 278716:exon5:c.G62 2A:p.E208K LIN28B:NM_001004 317:exon3:c.A363T: p.K121N CDK19:NM_015076: exon6:c.T593A:p.F1 98Y BCLAF1:NM_001077 440:exon5:c.G1252A :p.G418S,BCLAF1:N M_014739:exon5:c. G1258A:p.G420S FBXO30:NM_03214 5:exon2:c.C1906T:p. L636F SYNE1:NM_033071: exon52:c.A7860T:p. K2620N,SYNE1:NM _182961:exon52:c.A 7839T:p.K2613N OPRM1:NM_001145 286:exon4:c.A1187C :p.H396P ACAT2:NM_005891: exon7:c.C787T:p.L2 63F WDR27:NM_182552 :exon4:c.C340T:p.P1 14S DGKB:NM_004080:e xon17:c.G1486A:p.G 496R,DGKB:NM_14 5695:exon17:c.G148 6A:p.G496R ITGB8:NM_002214:e xon4:c.C542T:p.S18 1F PPP1R17:NM_0066 58:exon3:c.C92T:p.S 31L 88% 100% NA NA NA 38 0 0% 16 23 58.97% NA NA NA 29 0 0% 26 16 38.10% NA NA NA 34 0 0% 21 20 48.78% NA NA NA 39 0 0% 67 20 22.99% NA NA NA 18 0 0% 24 16 NA NA NA 18 0 0% 22 14 38.89% NA NA NA 15 0 0% 20 11 35.48% NA NA NA 28 0 0% 24 13 35.14% NA NA NA 18 0 0% 16 15 48.39% NA NA NA 25 0 0% 21 30 58.82% NA NA NA 34 0 0% 26 25 49.02% NA NA NA 30 0 0% 32 17 34.69% 40% Validation Negative MCC_274 7 50513436 50513436 G A Validation Negative MCC_274 7 99217563 99217563 G A Validation Negative MCC_274 7 99381689 99381689 C T Validation Negative MCC_274 7 122131401 122131401 T A Validation Negative MCC_274 7 143044004 143044004 G A Validation Negative MCC_274 7 147815353 147815353 G A Validation Negative MCC_274 8 24211907 24211907 C T Validation Negative MCC_274 8 24254877 24254877 G A Validation Negative MCC_274 8 24775988 24775988 A C Validation Negative MCC_274 8 39607232 39607232 G A Validation Negative MCC_274 8 55538664 55538664 A T Validation Negative MCC_274 8 68140488 68140488 C T Validation Negative MCC_274 8 69000021 69000021 C T Validation Negative MCC_274 8 70585214 70585214 C T Validation Negative MCC_274 8 89130986 89130986 C T Validation Negative MCC_274 8 95952101 95952101 G A Validation Negative MCC_274 8 100733127 100733127 T A Validation Negative MCC_274 8 104077014 104077014 C T FIGNL1:NM_001287 495:exon2:c.C1550T :p.S517F,FIGNL1:N M_001287493:exon3 :c.C1550T:p.S517F, FIGNL1:NM_001287 494:exon3:c.C1550T :p.S517F,FIGNL1:N nonsynonymo M_001042762:exon4 FIGNL1 NA us SNV :c.C1550T:p.S517F, FIGNL1:NM_001287 492:exon4:c.C1550T :p.S517F,FIGNL1:N M_001287496:exon4 :c.C1217T:p.S406F, FIGNL1:NM_022116: exon4:c.C1550T:p.S 517F ZSCAN25:NM_1451 nonsynonymo ZSCAN25 15:exon4:c.G334A:p. NA us SNV A112T ID=COSM3 CYP3A4:NM_00120 5658;OCC 2855:exon1:c.G16A: nonsynonymo URENCE= CYP3A4 p.D6N,CYP3A4:NM_ us SNV 1(central_n 017460:exon1:c.G16 ervous_sys A:p.D6N tem) CADPS2:NM_00100 9571:exon10:c.A161 6T:p.E539V,CADPS nonsynonymo 2:NM_001167940:ex CADPS2 NA us SNV on10:c.A1616T:p.E5 39V,CADPS2:NM_0 17954:exon10:c.A16 16T:p.E539V CLCN1:NM_000083: nonsynonymo CLCN1 exon20:c.G2365A:p. NA us SNV D789N CNTNAP2:NM_0141 nonsynonymo CNTNAP2 41:exon16:c.G2527A NA us SNV :p.E843K ADAM28:NM_01426 nonsynonymo ADAM28 5:exon23:c.C2318T: NA us SNV p.P773L ADAMDEC1:NM_00 1145272:exon5:c.G2 98A:p.E100K,ADAM ADAMDE nonsynonymo DEC1:NM_014479:e NA C1 us SNV xon6:c.G535A:p.E17 9K,ADAMDEC1:NM_ 001145271:exon7:c. G298A:p.E100K NEFM:NM_0011055 41:exon3:c.A1492C: nonsynonymo NEFM p.T498P,NEFM:NM_ NA us SNV 005382:exon3:c.A26 20C:p.T874P ADAM2:NM_001278 113:exon16:c.C1772 T:p.S591L,A