"Supplementary Data 3: Somatic mutation data of 82 exome samples, related to Fig. 3A.",,,,,,,,,,,,,,
Sample,Hugo_Symbol,Entrez_Gene_Id,Chromosome,Start_position,End_position,Variant_Classification,Variant_Type,Reference_Allele,Alt_Allele,Codon_Change,Tumor_Ref_Count,Tumor_Alt_Count,Normal_Ref_Count,Normal_Alt_Count
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PUSL1,126789,1,1244609,1244609,Silent,SNP,C,G,c.(277-279)gtC>gtG,17,88,0,63
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RBP7,116362,1,10067027,10067027,Intron,SNP,T,C,,11,278,0,81
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RBP7,116362,1,10067065,10067065,Intron,SNP,T,C,,7,116,0,58
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PADI4,23569,1,17660989,17660989,Intron,SNP,A,G,,9,84,0,46
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RCC1,1104,1,28832807,28832807,Intron,SNP,G,C,,7,251,0,86
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RCC1,1104,1,28832820,28832820,Intron,SNP,T,C,,6,196,0,80
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SNRNP40,9410,1,31733916,31733916,Intron,SNP,A,G,,6,196,0,70
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GRIK3,2899,1,37307519,37307519,Missense_Mutation,SNP,G,A,c.(1348-1350)Cgg>Tgg,19,167,0,196
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NFYC,4802,1,41229122,41229122,Intron,SNP,G,A,,7,137,0,72
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,BTBD19,149478,1,45278125,45278125,Intron,SNP,T,C,,10,418,0,168
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MROH7,374977,1,55124837,55124837,Intron,SNP,G,A,,6,105,0,29
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MROH7,374977,1,55124853,55124853,Intron,SNP,T,C,,7,66,0,36
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MROH7,374977,1,55124870,55124870,Intron,SNP,T,C,,6,46,0,39
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PTGER3,5733,1,71349742,71349742,Intron,SNP,T,C,,9,199,0,71
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CLCA2,9635,1,86898091,86898091,Silent,SNP,A,G,c.(622-624)aaA>aaG,4,52,0,96
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,HENMT1,113802,1,109192034,109192034,Intron,SNP,G,C,,12,232,0,132
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MAGI3,260425,1,114161213,114161213,Missense_Mutation,SNP,C,T,c.(1135-1137)cCg>cTg,7,119,1,64
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PTPN22,26191,1,114406974,114406974,Intron,SNP,G,T,,4,49,0,40
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,VPS45,11311,1,150115011,150115011,Intron,SNP,T,A,,10,353,0,78
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,VPS45,11311,1,150115012,150115012,Intron,SNP,A,G,,13,350,0,78
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IL6R,3570,1,154410014,154410014,Intron,SNP,T,C,,9,208,0,59
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ASH1L,55870,1,155315911,155315911,Intron,SNP,G,C,,6,196,0,89
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RHBG,57127,1,156344497,156344497,Intron,SNP,T,C,,11,41,0,20
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FCRL5,83416,1,157516078,157516078,Intron,SNP,G,A,,12,285,0,67
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,DCAF8,50717,1,160233136,160233136,5'Flank,SNP,G,A,,7,265,0,98
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CENPL,91687,1,173775617,173775617,Intron,SNP,A,G,,11,489,0,112
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CENPL,91687,1,173775686,173775686,Intron,SNP,T,C,,10,218,0,90
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RFWD2,64326,1,176069424,176069424,Intron,SNP,G,C,,9,232,0,30
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,AXDND1,126859,1,179418277,179418277,Intron,SNP,C,T,,14,817,0,195
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SHCBP1L,81626,1,182921069,182921069,Intron,SNP,T,C,,6,152,0,31
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FAIM3,9214,1,207094751,207094751,Intron,SNP,T,G,,12,164,0,47
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C4BPB,725,1,207268762,207268762,Intron,SNP,A,G,,9,216,0,79
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C4BPB,725,1,207268801,207268801,Intron,SNP,A,G,,7,173,0,78
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C4BPB,725,1,207268863,207268863,Intron,SNP,T,G,,5,77,0,40
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SYT14,255928,1,210139269,210139269,Intron,SNP,A,G,,14,440,0,113
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SYT14,255928,1,210139317,210139317,Intron,SNP,A,G,,12,271,0,90
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,HHAT,55733,1,210591616,210591616,Missense_Mutation,SNP,A,C,c.(802-804)cAt>cCt,36,231,0,95
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RCOR3,55758,1,211433480,211433480,Missense_Mutation,SNP,A,C,c.(22-24)cAa>cCa,102,201,0,82
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,Unknown,0,1,211832028,211832028,IGR,SNP,T,C,,8,273,1,82
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NVL,4931,1,224500829,224500829,Intron,SNP,G,C,,10,408,0,70
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NVL,4931,1,224500830,224500830,Intron,SNP,A,C,,10,415,0,70
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TMEM78,677790,1,229385765,229385765,Silent,SNP,T,A,c.(322-324)tcT>tcA,12,458,0,103
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,DISC1,27185,1,231990600,231990600,Silent,SNP,T,C,c.(2095-2097)gaT>gaC,5,123,0,25
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,DISC1,27185,1,231990607,231990607,Missense_Mutation,SNP,T,C,c.(2104-2106)Tgc>Cgc,8,164,0,27
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,DISC1,27185,1,231990611,231990611,Missense_Mutation,SNP,C,T,c.(2107-2109)cCg>cTg,8,181,0,30
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,DISC1,27185,1,231990681,231990681,Silent,SNP,A,C,c.(2176-2178)ctA>ctC,7,233,0,51
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF695,57116,1,247150416,247150416,Missense_Mutation,SNP,T,A,c.(1399-1401)gaA>gaT,6,126,0,148
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,LCLAT1,253558,2,30828933,30828933,Intron,SNP,T,C,,5,161,1,126
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GEMIN6,79833,2,39006489,39006489,Intron,SNP,T,C,,6,118,0,35
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MTA3,57504,2,42808976,42808976,Intron,SNP,G,A,,3,17,0,10
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FAM161A,84140,2,62052972,62052972,3'UTR,SNP,T,C,,5,23,0,31
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FAM161A,84140,2,62074128,62074128,Intron,SNP,A,G,,6,101,0,52
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SFXN5,94097,2,73268736,73268736,Intron,SNP,C,T,,7,137,0,45
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RAB11FIP5,26056,2,73339537,73339537,Silent,SNP,G,A,c.(367-369)ttC>ttT,11,491,0,110
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ALMS1,7840,2,73676342,73676342,Missense_Mutation,SNP,G,C,c.(2683-2685)caG>caC,4,33,0,109
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SNRNP200,23020,2,96950768,96950768,Intron,SNP,G,A,,6,205,0,97
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SCTR,6344,2,120236485,120236485,Missense_Mutation,SNP,C,G,c.(202-204)gGg>gCg,50,187,0,135
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PTPN18,26469,2,131119811,131119811,Intron,SNP,A,G,,8,71,0,66
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PTPN18,26469,2,131119812,131119812,Intron,SNP,A,G,,6,70,0,65
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MMADHC,27249,2,150428777,150428777,Intron,SNP,C,T,,6,134,0,62
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,METTL5,29081,2,170668888,170668888,Intron,SNP,T,C,,6,190,0,87
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MYO3B,140469,2,171381096,171381096,Intron,SNP,T,C,,6,89,0,53
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MYO3B,140469,2,171381119,171381119,Intron,SNP,G,A,,5,54,0,37
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,COL5A2,1290,2,189932784,189932784,Missense_Mutation,SNP,C,T,c.(1357-1359)gGa>gAa,42,195,0,337
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FAM124B,79843,2,225265134,225265134,Intron,SNP,G,A,,13,349,0,161
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,COL4A4,1286,2,227974198,227974198,Intron,SNP,T,C,,5,141,1,89
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,DTYMK,1841,2,242621666,242621666,Intron,SNP,A,G,,12,321,0,100
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GRM7,2917,3,7649768,7649768,Intron,SNP,T,C,,7,122,0,44
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,EMC3,55831,3,10023394,10023394,Intron,SNP,T,C,,12,217,0,93
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FANCD2OS,115795,3,10144679,10144679,Intron,SNP,C,G,,6,111,0,58
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C3orf83,0,3,12580743,12580743,IGR,SNP,A,C,,6,69,0,35
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZCWPW2,152098,3,28519847,28519847,Intron,SNP,A,G,,11,147,0,49
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,DYNC1LI1,51143,3,32608144,32608144,Intron,SNP,C,T,,10,203,1,53
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SCN11A,11280,3,38966932,38966932,Missense_Mutation,SNP,G,T,c.(685-687)gCt>gAt,8,104,0,127
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SEC22C,9117,3,42608293,42608293,Intron,SNP,T,C,,6,79,0,12
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SETD2,29072,3,47147188,47147188,Intron,SNP,A,T,,16,271,0,76
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SETD2,29072,3,47147209,47147209,Intron,SNP,G,A,,13,178,0,59
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,USP4,7375,3,49349985,49349985,Intron,SNP,A,G,,8,275,0,67
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,APPL1,26060,3,57301853,57301853,Intron,SNP,T,C,,7,292,0,121
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PPP4R2,151987,3,73064991,73064991,Intron,SNP,A,G,,6,128,0,54
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PPP4R2,151987,3,73065004,73065004,Intron,SNP,C,T,,5,94,0,39
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ARL13B,200894,3,93715481,93715481,Intron,SNP,A,C,,7,309,0,88
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ARL13B,200894,3,93715502,93715502,Intron,SNP,A,G,,9,194,0,64
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ARGFX,503582,3,121295706,121295706,Missense_Mutation,SNP,C,G,c.(178-180)aCt>aGt,7,220,0,64
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RP11-67L2.2,0,3,122605725,122605725,lincRNA,SNP,T,C,,6,111,0,55
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,UMPS,7372,3,124464335,124464335,IGR,SNP,C,T,,6,102,0,80
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IFT122,55764,3,129178163,129178163,Intron,SNP,T,C,,8,429,0,96
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IFT122,55764,3,129178189,129178189,Intron,SNP,G,A,,9,246,0,80
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IFT122,55764,3,129178209,129178209,Intron,SNP,C,T,,7,153,1,74
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GPR149,344758,3,154146895,154146895,Silent,SNP,G,A,c.(508-510)tgC>tgT,10,728,0,242
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MME,4311,3,154807654,154807654,Intron,SNP,G,C,,6,370,0,87
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PHC3,80012,3,169868458,169868458,Intron,SNP,G,A,,8,122,0,41
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PLD1,5337,3,171371980,171371980,Intron,SNP,A,C,,10,68,0,26
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PLD1,5337,3,171372050,171372050,Intron,SNP,A,G,,6,82,0,30
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FNDC3B,64778,3,172034997,172034997,Intron,SNP,A,G,,8,140,1,49
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FNDC3B,64778,3,172035004,172035004,Intron,SNP,T,C,,9,106,0,43
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FNDC3B,64778,3,172035030,172035030,Intron,SNP,G,A,,5,78,0,36
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IGF2BP2,10644,3,185439994,185439994,Intron,SNP,C,T,,13,273,1,121
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TP63,8626,3,189562030,189562030,Intron,SNP,A,G,,5,132,0,35
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ATP13A3,79572,3,194219513,194219513,5'Flank,SNP,C,T,,6,159,0,51
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,APOD,347,3,195303950,195303950,Intron,SNP,T,C,,5,82,0,29
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,APOD,347,3,195303972,195303972,Intron,SNP,T,C,,16,132,0,33
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TM4SF19,116211,3,196046903,196046903,Intron,SNP,T,C,,7,84,0,36
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,KIAA0226,9711,3,197421036,197421036,Intron,SNP,C,A,,6,170,0,118
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF595,152687,4,86588,86588,3'UTR,SNP,T,C,,4,51,0,133
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF721,170960,4,435817,435817,Silent,SNP,T,C,c.(2401-2403)gaA>gaG,7,66,0,143
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TMEM175,84286,4,950334,950334,Intron,SNP,A,G,,11,169,0,80
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FAM193A,8603,4,2709937,2709937,Silent,SNP,T,C,c.(3562-3564)ctT>ctC,11,186,0,68
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GPR125,166647,4,22517267,22517267,Silent,SNP,C,T,c.(139-141)ggG>ggA,7,382,0,98
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SEPSECS,51091,4,25161196,25161196,Intron,SNP,T,C,,10,206,0,57
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RP11-431M7.3,0,4,36261544,36261544,RNA,SNP,T,C,,13,557,0,170
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C4orf19,55286,4,37462486,37462486,Intron,SNP,T,C,,4,120,0,47
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CNGA1,1259,4,47973079,47973079,5'UTR,SNP,G,A,,6,148,0,46
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,UGT2A1,10941,4,70501451,70501451,Intron,SNP,G,A,,5,202,0,36
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,UGT2A1,10941,4,70501474,70501474,Intron,SNP,A,G,,8,141,0,33
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ANTXR2,118429,4,80945809,80945809,Intron,SNP,A,G,,8,136,0,54
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ANTXR2,118429,4,80945819,80945819,Intron,SNP,A,G,,5,185,0,53
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ANTXR2,118429,4,80945821,80945821,Intron,SNP,T,C,,5,200,0,56
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FAM175A,84142,4,84401351,84401351,Intron,SNP,A,G,,4,27,0,13
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C4orf36,132989,4,87811249,87811249,Intron,SNP,A,G,,10,513,0,152
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,EIF4E,1977,4,99807612,99807612,Intron,SNP,T,C,,6,93,0,39
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SLC9B1,150159,4,103833195,103833195,Intron,SNP,G,C,,5,114,0,30
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,USP38,84640,4,144125610,144125610,Intron,SNP,A,T,,7,170,0,60
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,KLHL2,11275,4,166145204,166145204,Intron,SNP,T,C,,5,55,0,38
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RP11-487E13.1,0,4,178169345,178169345,Intron,SNP,C,T,,10,120,0,64
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IRF2,3660,4,185349835,185349835,Intron,SNP,T,C,,7,295,0,84
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ACSL1,2180,4,185691548,185691548,Intron,SNP,C,T,,5,94,0,89
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SERF1B,728492,5,69325679,69325679,Intron,SNP,C,T,,9,220,0,235
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SERF1B,728492,5,69325696,69325696,Intron,SNP,T,C,,10,163,0,206
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PCDHGA1,56114,5,140712533,140712533,Missense_Mutation,SNP,C,T,c.(2281-2283)gCg>gTg,22,408,0,356
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RARS,5917,5,167915266,167915266,Intron,SNP,A,G,,6,50,0,21
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,KIF13A,63971,6,17882181,17882181,Intron,SNP,T,C,,6,38,0,23
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ANKS1A,23294,6,34973552,34973552,Intron,SNP,G,A,,6,206,0,78
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,BTBD9,114781,6,38370591,38370591,Intron,SNP,A,C,,10,271,0,114
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GLTSCR1L,23506,6,42820126,42820126,Intron,SNP,A,G,,7,178,0,134
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GLTSCR1L,23506,6,42820138,42820138,Intron,SNP,G,A,,7,132,0,108
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MTO1,25821,6,74190018,74190018,Missense_Mutation,SNP,G,A,c.(1132-1134)Gga>Aga,9,528,0,165
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RNGTT,8732,6,89675432,89675432,5'Flank,SNP,G,T,,9,354,0,135
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PPIL6,285755,6,109726146,109726146,Intron,SNP,G,A,,5,24,0,22
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PPIL6,285755,6,109726218,109726218,Intron,SNP,T,C,,7,105,0,40
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SAMD3,154075,6,130504407,130504407,Intron,SNP,A,G,,5,100,0,51
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SAMD3,154075,6,130504414,130504414,Intron,SNP,G,A,,6,118,0,61
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ENPP3,5169,6,131959650,131959650,Intron,SNP,C,T,,13,252,0,89
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RPS12,6206,6,133137043,133137043,Intron,SNP,G,A,,6,222,0,79
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PCMT1,5110,6,150086887,150086887,Intron,SNP,A,G,,7,65,0,46
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SMOC2,64094,6,169065097,169065097,Intron,SNP,A,T,,6,138,0,58
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,EIF2AK1,27102,7,6097780,6097780,Intron,SNP,T,C,,10,454,1,146
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,EIF2AK1,27102,7,6097795,6097795,Intron,SNP,T,C,,9,453,0,150
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,EIF2AK1,27102,7,6097834,6097834,Intron,SNP,C,A,,9,363,1,110
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C7orf10,0,7,40257090,40257090,Intron,SNP,A,C,,17,194,0,93
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C7orf10,0,7,40257091,40257091,Intron,SNP,A,G,,9,201,1,93
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,HECW1,23072,7,43562706,43562706,Intron,SNP,A,G,,7,140,0,55
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NPC1L1,29881,7,44558199,44558199,Missense_Mutation,SNP,T,C,c.(3202-3204)tAc>tGc,7,95,0,16
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NPC1L1,29881,7,44558232,44558232,Missense_Mutation,SNP,T,C,c.(3169-3171)tAc>tGc,10,151,0,19
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ABCA13,154664,7,48684332,48684332,Missense_Mutation,SNP,C,A,c.(15061-15063)aaC>aaA,4,31,0,38
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF479,90827,7,57188238,57188238,Missense_Mutation,SNP,C,T,c.(883-885)aGa>aAa,6,130,1,201
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF680,340252,7,64004794,64004794,Missense_Mutation,SNP,C,A,c.(46-48)aGg>aTg,27,489,0,204
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CRCP,27297,7,65595188,65595188,Intron,SNP,A,G,,6,75,0,24
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RABGEF1,27342,7,66261797,66261797,3'UTR,SNP,T,C,,10,87,0,34
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RABGEF1,27342,7,66261850,66261850,3'UTR,SNP,A,T,,9,337,0,78
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TYW1B,441250,7,72023788,72023788,RNA,SNP,C,T,,7,258,0,103
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,DYNC1I1,1780,7,95739378,95739378,Missense_Mutation,SNP,A,G,c.(1804-1806)Aca>Gca,10,221,0,79
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ARPC1A,10552,7,98951589,98951589,Silent,SNP,C,T,c.(556-558)ggC>ggT,64,693,0,222
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF655,79027,7,99170458,99170458,Missense_Mutation,SNP,A,G,c.(727-729)Aaa>Gaa,4,38,0,76
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CYP3A43,64816,7,99436329,99436329,Intron,SNP,G,A,,7,216,0,62
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CYP3A43,64816,7,99436330,99436330,Intron,SNP,T,C,,13,206,0,62
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TRIP6,7205,7,100468701,100468701,Intron,SNP,A,G,,12,481,0,107
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TRIP6,7205,7,100468767,100468767,Intron,SNP,A,C,,11,264,0,87
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TRIM56,81844,7,100734923,100734923,IGR,SNP,A,G,,6,114,0,44
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TRIM56,81844,7,100734924,100734924,IGR,SNP,T,C,,10,115,0,45
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MYL10,93408,7,101272318,101272318,Intron,SNP,T,C,,14,200,1,57
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SH2B2,10603,7,101952841,101952841,Silent,SNP,T,C,c.(1105-1107)caT>caC,6,142,0,32
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RELN,5649,7,103276725,103276725,Missense_Mutation,SNP,G,A,c.(2260-2262)Cgg>Tgg,62,122,0,270
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SYPL1,6856,7,105733024,105733024,Intron,SNP,T,C,,6,96,0,36
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CFTR,1080,7,117188726,117188726,Missense_Mutation,SNP,A,C,c.(1240-1242)cAa>cCa,8,275,1,222
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,METTL2B,55798,7,128142681,128142681,3'UTR,SNP,G,A,,10,468,0,110
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,METTL2B,55798,7,128142695,128142695,3'UTR,SNP,G,A,,9,331,0,85
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,METTL2B,55798,7,128142718,128142718,3'UTR,SNP,C,T,,7,176,0,74
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PODXL,5420,7,131195041,131195041,Silent,SNP,G,A,c.(754-756)acC>acT,5,74,0,35
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,AGBL3,340351,7,134694832,134694832,Missense_Mutation,SNP,C,T,c.(349-351)gCg>gTg,7,148,0,49
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NDUFB2,4708,7,140421505,140421505,3'UTR,SNP,G,A,,4,27,0,41
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NOS3,4846,7,150700493,150700493,3'UTR,SNP,C,T,,4,43,0,40
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FDFT1,2222,8,11659426,11659426,5'Flank,SNP,T,C,,11,153,1,112
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RBPMS,11030,8,30361907,30361907,Silent,SNP,T,C,c.(349-351)agT>agC,12,58,0,147
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,HGSNAT,138050,8,43037560,43037560,Intron,SNP,T,C,,6,105,0,62
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,LACTB2,51110,8,71573295,71573295,Intron,SNP,A,G,,4,72,0,41
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,XKR9,389668,8,71595843,71595843,Intron,SNP,T,C,,10,383,1,113
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GDAP1,54332,8,75278426,75278426,3'UTR,SNP,G,A,,3,11,0,32
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FAM92A1,137392,8,94736744,94736744,Intron,SNP,A,G,,12,486,0,119
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FAM92A1,137392,8,94736759,94736759,Intron,SNP,C,G,,11,426,0,108
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TMEM67,91147,8,94772156,94772156,Intron,SNP,T,A,,6,126,0,57
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,UQCRB,7381,8,97242400,97242400,3'UTR,SNP,G,T,,5,44,0,66
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MATN2,4147,8,99037867,99037867,Intron,SNP,G,A,,6,73,0,19
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RIMS2,9699,8,104932956,104932956,Intron,SNP,G,A,,7,300,0,123
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RIMS2,9699,8,104932993,104932993,Intron,SNP,G,A,,6,172,0,94
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ENY2,56943,8,110354939,110354939,Missense_Mutation,SNP,C,G,c.(235-237)Ccc>Gcc,15,513,0,174
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TATDN1,83940,8,125506073,125506073,Splice_Site,SNP,C,T,c.e11+1,4,20,0,38
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C8orf17,100507249,8,140944733,140944733,Silent,SNP,G,A,c.(202-204)gcG>gcA,12,473,0,200
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C8orf17,100507249,8,140944735,140944735,Missense_Mutation,SNP,G,A,c.(205-207)cGg>cAg,11,467,0,195
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C8orf17,100507249,8,140944744,140944744,Missense_Mutation,SNP,C,T,c.(214-216)aCg>aTg,18,431,0,183
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C8orf17,100507249,8,140944745,140944745,Silent,SNP,G,A,c.(214-216)acG>acA,15,423,0,178
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,AGO2,27161,8,141551409,141551409,Missense_Mutation,SNP,G,A,c.(1888-1890)Cgc>Tgc,7,401,0,122
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FAM83H-AS1,100128338,8,144826104,144826104,lincRNA,SNP,G,A,,8,119,0,32
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FAM83H-AS1,100128338,8,144826128,144826128,lincRNA,SNP,T,C,,7,72,0,18
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,Unknown,0,9,26094594,26094594,IGR,SNP,T,C,,7,113,0,59
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IFT74,80173,9,26982372,26982372,Intron,SNP,T,C,,11,574,1,197
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ACO1,48,9,32445623,32445623,Intron,SNP,T,C,,7,120,1,36
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ACO1,48,9,32445661,32445661,Intron,SNP,G,A,,6,36,0,22
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GVQW1,101362076,9,32567365,32567365,Silent,SNP,C,T,c.(301-303)ctC>ctT,6,116,0,110
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TLE1,7088,9,84231554,84231554,Intron,SNP,T,C,,7,36,0,90
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IDNK,414328,9,86241515,86241515,Intron,SNP,T,A,,9,273,1,82
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IDNK,414328,9,86241561,86241561,Intron,SNP,G,A,,8,184,0,65
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NXNL2,158046,9,91186065,91186065,Silent,SNP,T,C,c.(364-366)ctT>ctC,4,37,0,15
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,COL27A1,85301,9,116980145,116980145,Intron,SNP,A,G,,6,125,0,82
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C5,727,9,123762207,123762207,Intron,SNP,T,G,,8,152,0,65
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GPR107,57720,9,132876919,132876919,Missense_Mutation,SNP,T,C,c.(1426-1428)gTc>gCc,5,108,0,46
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SARDH,1757,9,136590544,136590544,Intron,SNP,T,C,,5,38,0,31
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NOTCH1,4851,9,139400189,139400189,Missense_Mutation,SNP,C,A,c.(4159-4161)Gcc>Tcc,11,35,0,31
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RP11-563J2.2,0,10,6319751,6319751,lincRNA,SNP,C,T,,7,153,0,65
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MLLT10,8028,10,21840796,21840796,Intron,SNP,C,T,,6,138,0,57
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SEPT7P9,285961,10,38681037,38681037,RNA,SNP,G,A,,4,33,0,155
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,HK1,3098,10,71052088,71052088,Silent,SNP,T,C,c.(100-102)ccT>ccC,5,83,0,59
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ASCC1,51008,10,73862648,73862648,Silent,SNP,A,G,c.(1117-1119)agT>agC,7,128,0,50
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CAMK2G,818,10,75576499,75576499,Intron,SNP,A,G,,6,101,0,62
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SH2D4B,387694,10,82369282,82369282,Silent,SNP,C,T,c.(955-957)acC>acT,9,334,0,115
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NEURL,0,10,105348596,105348596,Intron,SNP,A,G,,8,155,0,67
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CASP7,840,10,115485737,115485737,Intron,SNP,A,T,,5,37,0,24
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ATRNL1,26033,10,117357216,117357216,Intron,SNP,T,C,,14,373,0,117
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ATRNL1,26033,10,117357246,117357246,Intron,SNP,T,C,,11,192,1,72
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,BAG3,9531,10,121429521,121429521,Silent,SNP,C,G,c.(337-339)gtC>gtG,103,532,0,286
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,METTL10,399818,10,126450965,126450965,Missense_Mutation,SNP,A,C,c.(778-780)gTc>gGc,8,190,2,64
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,METTL10,399818,10,126450989,126450989,Missense_Mutation,SNP,G,A,c.(754-756)gCa>gTa,10,262,0,93
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C10orf137,0,10,127429917,127429917,Intron,SNP,G,A,,5,90,0,55
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C10orf137,0,10,127445659,127445659,Intron,SNP,A,G,,8,107,0,43
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF195,7748,11,3380585,3380585,Silent,SNP,C,T,c.(1651-1653)aaG>aaA,5,65,0,111
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF195,7748,11,3383020,3383020,Missense_Mutation,SNP,T,C,c.(325-327)aAc>aGc,15,237,0,116
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF195,7748,11,3383025,3383025,Silent,SNP,A,G,c.(319-321)ggT>ggC,6,215,0,116
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PGAP2,27315,11,3839025,3839025,Intron,SNP,T,C,,6,58,0,42
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TRIM68,55128,11,4621595,4621595,Missense_Mutation,SNP,G,A,c.(1369-1371)Cgc>Tgc,4,66,0,56
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IPO7,10527,11,9413770,9413770,Intron,SNP,A,G,,6,78,0,22
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MRVI1,10335,11,10711829,10711829,5'UTR,SNP,T,C,,4,43,0,32
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RPS13,6207,11,17098075,17098075,Intron,SNP,A,C,,12,187,0,43
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ABCC8,6833,11,17485010,17485010,Missense_Mutation,SNP,A,G,c.(553-555)gTg>gCg,9,178,0,131
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ARHGAP1,392,11,46699414,46699414,3'UTR,SNP,T,C,,11,118,0,43
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ARHGAP1,392,11,46699415,46699415,3'UTR,SNP,G,A,,7,127,0,47
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ARHGAP1,392,11,46699479,46699479,3'UTR,SNP,C,T,,10,314,0,94
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,LRP4,4038,11,46897358,46897358,Silent,SNP,G,A,c.(3694-3696)acC>acT,8,407,0,312
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NUP160,23279,11,47848659,47848659,Intron,SNP,T,C,,10,523,0,217
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NUP160,23279,11,47848674,47848674,Intron,SNP,A,T,,16,460,0,202
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NUP160,23279,11,47848742,47848742,Intron,SNP,C,T,,7,183,0,119
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MS4A4A,51338,11,60059750,60059750,Missense_Mutation,SNP,G,T,c.(94-96)Ggg>Tgg,10,37,0,86
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FADS1,3992,11,61579288,61579288,Intron,SNP,C,G,,7,276,0,93
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FADS1,3992,11,61579330,61579330,Intron,SNP,T,G,,9,329,0,104
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SLC3A2,6520,11,62644260,62644260,Intron,SNP,A,G,,8,173,0,41
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TCIRG1,10312,11,67814962,67814962,Missense_Mutation,SNP,G,A,c.(1228-1230)Ggg>Agg,10,349,0,180
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SHANK2,22941,11,70753998,70753998,Intron,SNP,A,G,,14,425,0,144
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SHANK2,22941,11,70754013,70754013,Intron,SNP,T,C,,19,433,0,135
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,STARD10,10809,11,72466636,72466636,Intron,SNP,A,G,,7,284,0,120
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TMEM135,65084,11,86889542,86889542,Intron,SNP,C,A,,8,427,0,165
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TMEM135,65084,11,86988363,86988363,Intron,SNP,A,G,,9,119,0,45
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,Unknown,0,11,87039792,87039792,IGR,SNP,T,G,,7,168,0,141
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GRM5,2915,11,88658984,88658984,Intron,SNP,T,G,,12,234,0,95
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FAT3,120114,11,92292674,92292674,Intron,SNP,T,C,,7,175,1,43
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ACAT1,38,11,108013302,108013302,Intron,SNP,A,G,,6,157,0,132
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ALG9,79796,11,111659195,111659195,Intron,SNP,C,T,,7,241,0,127
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NCAM1,4684,11,113143775,113143775,Intron,SNP,G,T,,35,157,0,100
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FXYD6,53826,11,117707036,117707036,IGR,SNP,T,C,,6,152,0,56
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TMPRSS4-AS1,100526771,11,117896248,117896248,RNA,SNP,C,T,,10,200,1,106
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TMPRSS4-AS1,100526771,11,117896467,117896467,RNA,SNP,T,C,,7,201,0,109
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ERC1,23085,12,1353735,1353735,Intron,SNP,A,T,,17,351,1,133
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NOP2,4839,12,6667205,6667205,Intron,SNP,T,G,,5,103,0,56
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NOP2,4839,12,6667234,6667234,Intron,SNP,A,G,,11,216,0,70
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NOP2,4839,12,6667239,6667239,Intron,SNP,G,A,,7,240,0,73
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NANOGNB,360030,12,7917905,7917905,Silent,SNP,G,A,c.(22-24)acG>acA,8,228,0,102
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NANOGNB,360030,12,7917942,7917942,Missense_Mutation,SNP,A,G,c.(61-63)Aga>Gga,8,123,0,64
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NANOGNB,360030,12,7917959,7917959,Silent,SNP,A,G,c.(76-78)gaA>gaG,9,89,0,46
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CLEC2D,29121,12,9846440,9846440,Intron,SNP,T,C,,6,220,0,64
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CLEC2D,29121,12,9846441,9846441,Intron,SNP,A,G,,9,214,0,64
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,KLRC3,3823,12,10565211,10565211,Missense_Mutation,SNP,C,T,c.(682-684)cGg>cAg,8,359,0,145
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RASSF8,11228,12,26217975,26217975,Silent,SNP,C,T,c.(646-648)aaC>aaT,9,33,0,68
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TM7SF3,51768,12,27165655,27165655,Intron,SNP,G,A,,7,235,0,135
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TMTC1,83857,12,29819191,29819191,Intron,SNP,C,T,,6,100,0,42
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TMTC1,83857,12,29819200,29819200,Intron,SNP,A,G,,8,92,1,42
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ANO6,196527,12,45621956,45621956,Intron,SNP,A,G,,9,373,1,116
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,LMBR1L,55716,12,49491900,49491900,Intron,SNP,A,C,,9,36,0,35
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SPATS2,65244,12,49880028,49880028,Intron,SNP,T,C,,7,224,0,63
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CSAD,51380,12,53572162,53572162,Intron,SNP,A,G,,7,438,0,120
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RBMS2,5939,12,56974094,56974094,Intron,SNP,A,G,,6,141,0,40
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PRIM1,5557,12,57140173,57140173,Intron,SNP,C,T,,7,95,0,48
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ARHGAP9,64333,12,57877760,57877760,Silent,SNP,A,G,c.(19-21)aaT>aaC,8,201,0,94
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ARHGAP9,64333,12,57877766,57877766,Missense_Mutation,SNP,C,G,c.(13-15)caG>caC,6,157,0,86
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MDM2,4193,12,69209414,69209414,Intron,SNP,A,G,,9,275,0,48
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CTD-2021H9.3,0,12,71511870,71511870,Silent,SNP,T,G,c.(91-93)ggA>ggC,5,157,1,122
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CTD-2021H9.3,0,12,71511915,71511915,Silent,SNP,A,G,c.(46-48)tgT>tgC,5,76,0,87
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NAP1L1,4673,12,76454860,76454860,Intron,SNP,A,G,,7,122,0,52
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NAV3,89795,12,78537176,78537176,Intron,SNP,T,C,,12,173,0,64
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PLXNC1,10154,12,94671841,94671841,Intron,SNP,C,T,,5,205,0,157
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ANKS1B,56899,12,99225750,99225750,Intron,SNP,A,G,,5,171,0,87
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TXNRD1,7296,12,104684785,104684785,5'UTR,SNP,T,C,,7,167,0,87
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MMAB,326625,12,109993215,109993215,3'UTR,SNP,A,G,,5,39,0,57
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IFT81,28981,12,110654419,110654419,Intron,SNP,A,G,,6,154,0,76
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IFT81,28981,12,110654515,110654515,Intron,SNP,C,G,,5,65,0,31
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ACAD10,80724,12,112148158,112148158,Intron,SNP,G,C,,7,258,0,101
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ACAD10,80724,12,112148161,112148161,Intron,SNP,A,G,,10,245,0,96
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RASAL1,8437,12,113545352,113545352,Intron,SNP,G,C,,8,372,0,85
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IQCD,115811,12,113645067,113645067,Intron,SNP,C,T,,5,65,0,44
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TPCN1,53373,12,113663128,113663128,Intron,SNP,C,T,,6,169,0,67
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TPCN1,53373,12,113663133,113663133,Intron,SNP,A,G,,8,151,0,65
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,AL021546.6,0,12,120892817,120892817,Intron,SNP,G,A,,12,183,0,47
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,COQ5,84274,12,120961679,120961679,Intron,SNP,T,G,,6,150,1,39
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TCTN2,79867,12,124192212,124192212,Silent,SNP,C,T,c.(2044-2046)gcC>gcT,9,478,0,313
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CHFR,55743,12,133438944,133438944,Intron,SNP,C,T,,7,108,0,64
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CHFR,55743,12,133438976,133438976,Intron,SNP,T,C,,10,197,0,69
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF268,10795,12,133761313,133761313,Intron,SNP,T,C,,8,272,0,60
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF268,10795,12,133761327,133761327,Intron,SNP,T,C,,9,214,0,53
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CCDC122,160857,13,44430659,44430659,Intron,SNP,C,G,,4,42,0,15
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,UBAC2,337867,13,99886641,99886641,Intron,SNP,G,A,,10,113,0,26
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TPP2,7174,13,103260046,103260046,Intron,SNP,T,C,,18,317,0,95
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IRS2,8660,13,110434992,110434992,Missense_Mutation,SNP,G,A,c.(3409-3411)Cgc>Tgc,8,613,0,183
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NGDN,25983,14,23945252,23945252,Missense_Mutation,SNP,T,G,c.(433-435)gaT>gaG,6,116,0,141
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NRL,4901,14,24579583,24579583,Intron,SNP,A,G,,12,262,0,70
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C14orf23,387978,14,29282228,29282228,Missense_Mutation,SNP,A,G,c.(172-174)Act>Gct,7,115,0,27
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,AP4S1,11154,14,31552822,31552822,Intron,SNP,T,C,,6,225,0,63
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,AP4S1,11154,14,31552823,31552823,Intron,SNP,A,G,,8,221,0,62
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,DLGAP5,9787,14,55615329,55615329,Intron,SNP,C,T,,9,158,0,86
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C14orf105,55195,14,57942305,57942305,Intron,SNP,A,G,,7,63,0,27
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C14orf105,55195,14,57942341,57942341,Intron,SNP,T,C,,5,78,0,38
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C14orf105,55195,14,57942386,57942386,Intron,SNP,T,C,,12,163,0,52
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SIX4,51804,14,61180504,61180504,Missense_Mutation,SNP,A,G,c.(1966-1968)gTc>gCc,5,94,0,196
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ANGEL1,23357,14,77276562,77276562,Intron,SNP,A,C,,8,394,0,134
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TTC8,123016,14,89303297,89303297,Intron,SNP,T,C,,7,46,0,15
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RP11-944C7.1,0,14,90097791,90097791,Silent,SNP,G,A,c.(118-120)gaC>gaT,7,192,0,89
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,BEGAIN,57596,14,101012874,101012874,Missense_Mutation,SNP,T,G,c.(139-141)cAg>cCg,92,281,0,109
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,WDR20,91833,14,102664647,102664647,Intron,SNP,A,G,,9,109,0,30
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PPP1R13B,23368,14,104260912,104260912,Intron,SNP,A,G,,5,107,0,40
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PPP1R13B,23368,14,104260917,104260917,Intron,SNP,G,A,,9,130,0,43
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,KNSTRN,90417,15,40681457,40681457,Intron,SNP,A,C,,6,62,0,43
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,HAUS2,55142,15,42853001,42853001,Intron,SNP,C,G,,7,270,0,134
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PPIP5K1,9677,15,43828342,43828342,Intron,SNP,T,C,,5,135,0,76
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GALK2,2585,15,49487386,49487386,Intron,SNP,C,A,,6,108,1,57
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NEDD4,4734,15,56134182,56134182,Missense_Mutation,SNP,G,C,c.(3043-3045)atC>atG,9,142,0,205
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SNX1,6642,15,64407827,64407827,Intron,SNP,G,A,,5,83,0,40
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PTPLAD1,51495,15,65828156,65828156,Intron,SNP,A,C,,7,183,0,77
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SLC24A1,9187,15,65947147,65947147,3'UTR,SNP,A,G,,7,103,0,41
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,DNM1P46,196968,15,100330574,100330574,RNA,SNP,T,C,,10,99,0,61
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,DNM1P46,196968,15,100330589,100330589,RNA,SNP,C,T,,6,113,0,65
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RAB26,25837,16,2201152,2201152,Intron,SNP,T,A,,8,192,0,73
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF205,7755,16,3160849,3160849,5'Flank,SNP,A,C,,6,53,0,19
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C16orf89,146556,16,5094582,5094582,3'UTR,SNP,A,G,,11,372,1,162
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C16orf89,146556,16,5094586,5094586,Nonstop_Mutation,SNP,A,G,c.(1207-1209)Tag>Cag,16,350,0,172
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C16orf89,146556,16,5094662,5094662,Silent,SNP,A,G,c.(1129-1131)caT>caC,10,182,1,125
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C16orf89,146556,16,5094778,5094778,Silent,SNP,A,G,c.(1015-1017)Ttg>Ctg,12,212,0,81
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CIITA,4261,16,11007297,11007297,Intron,SNP,G,A,,6,92,0,12
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PRM1,5619,16,11374841,11374841,3'UTR,SNP,T,C,,18,527,1,384
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RPS15A,6210,16,18797579,18797579,Intron,SNP,A,C,,5,73,0,16
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PRR14,78994,16,30663647,30663647,Intron,SNP,A,G,,12,432,0,157
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PRR14,78994,16,30663648,30663648,Intron,SNP,T,C,,9,419,0,157
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FUS,2521,16,31203912,31203912,IGR,SNP,T,C,,5,101,0,94
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FUS,2521,16,31204451,31204451,IGR,SNP,C,T,,5,86,1,54
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FUS,2521,16,31204460,31204460,IGR,SNP,T,A,,8,78,1,59
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RBL2,5934,16,53488251,53488251,Intron,SNP,T,G,,4,19,0,22
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CTCF,10664,16,67645323,67645323,Silent,SNP,C,T,c.(586-588)gaC>gaT,6,246,0,305
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PLA2G15,23659,16,68287343,68287343,Intron,SNP,A,G,,8,145,0,60
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PRMT7,54496,16,68356277,68356277,Intron,SNP,G,T,,11,203,0,83
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PRMT7,54496,16,68356281,68356281,Intron,SNP,T,A,,7,219,0,91
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PDXDC2P,283970,16,70010387,70010387,RNA,SNP,G,A,,15,344,0,398
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,VAC14,55697,16,70802752,70802752,Intron,SNP,A,G,,11,247,0,104
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF23,7571,16,71484521,71484521,Intron,SNP,A,C,,16,197,1,56
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,AC009120.10,0,16,74316314,74316314,lincRNA,SNP,T,C,,4,32,0,8
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NPIPB15,440348,16,74415494,74415494,Silent,SNP,C,T,c.(145-147)ggC>ggT,7,179,0,452
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ADAT1,23536,16,75632208,75632208,IGR,SNP,G,A,,5,71,0,31
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ADAT1,23536,16,75653547,75653547,Intron,SNP,A,G,,6,133,0,61
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CMC2,56942,16,81014483,81014483,Intron,SNP,A,C,,9,304,0,154
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,DNAAF1,123872,16,84199570,84199570,Intron,SNP,G,T,,115,447,0,294
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CRISPLD2,83716,16,84872520,84872520,Intron,SNP,G,A,,6,182,0,137
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PAFAH1B1,5048,17,2562735,2562735,Intron,SNP,C,G,,7,200,0,30
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RABEP1,9135,17,5264737,5264737,Missense_Mutation,SNP,G,C,c.(1330-1332)Gga>Cga,5,120,0,241
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,AC027763.2,0,17,6888772,6888772,3'UTR,SNP,G,A,,10,297,0,137
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,AC027763.2,0,17,6888804,6888804,Silent,SNP,G,A,c.(151-153)atC>atT,8,286,1,137
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ALOX12,239,17,6905840,6905840,Intron,SNP,T,C,,10,274,0,164
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CENPV,201161,17,16256484,16256484,Silent,SNP,C,T,c.(265-267)ccG>ccA,5,127,0,57
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IFT20,90410,17,26657245,26657245,Intron,SNP,C,G,,4,41,0,19
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NLE1,54475,17,33461986,33461986,Intron,SNP,A,G,,12,169,0,48
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RPL23,9349,17,37004296,37004296,3'UTR,SNP,T,G,,9,76,0,68
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RP11-156P1.2,0,17,45043990,45043990,Missense_Mutation,SNP,T,C,c.(673-675)aTa>aCa,9,126,0,63
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CACNA1G,8913,17,48683535,48683535,Intron,SNP,G,A,,32,213,0,187
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SPAG9,9043,17,49042149,49042149,3'UTR,SNP,C,T,,6,146,0,52
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TMEM104,54868,17,72773780,72773780,Intron,SNP,T,C,,8,297,0,147
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TMEM104,54868,17,72773796,72773796,Intron,SNP,C,T,,6,215,0,113
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IMPA2,3613,18,12017706,12017706,Intron,SNP,T,G,,4,40,0,30
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IMPA2,3613,18,12017779,12017779,Intron,SNP,C,T,,6,65,0,23
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RP11-35G9.5,0,18,55309203,55309203,RNA,SNP,T,G,,7,406,0,167
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TBXA2R,6915,19,3594971,3594971,3'UTR,SNP,G,A,,11,419,0,136
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,HDGFRP2,0,19,4496956,4496956,Intron,SNP,C,T,,7,129,1,52
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,HDGFRP2,0,19,4496963,4496963,Intron,SNP,C,T,,10,106,1,45
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,HDGFRP2,0,19,4496964,4496964,Intron,SNP,G,A,,6,109,0,45
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,HDGFRP2,0,19,4496973,4496973,Intron,SNP,C,T,,6,100,0,45
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PLIN5,440503,19,4523724,4523724,Missense_Mutation,SNP,G,C,c.(1207-1209)cCt>cGt,62,304,0,127
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C19orf82,0,19,9737483,9737483,Silent,SNP,C,G,c.(115-117)ctC>ctG,6,159,0,88
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ICAM4,3386,19,10398859,10398859,3'UTR,SNP,G,C,,7,121,0,119
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SLC44A2,57153,19,10752053,10752053,Intron,SNP,C,G,,8,316,0,72
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF788,388507,19,12204966,12204966,Intron,SNP,T,C,,6,153,0,29
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,UBA52,7311,19,18684177,18684177,Missense_Mutation,SNP,A,T,c.(67-69)Att>Ttt,92,226,0,219
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF93,81931,19,20042851,20042851,Intron,SNP,A,G,,4,39,0,25
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF737,100129842,19,20728011,20728011,Missense_Mutation,SNP,C,A,c.(997-999)aGa>aTa,6,114,0,246
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF85,7639,19,21132356,21132356,Missense_Mutation,SNP,A,G,c.(1036-1038)Aaa>Gaa,6,39,0,99
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF714,148206,19,21301053,21301053,Missense_Mutation,SNP,A,G,c.(1582-1584)cAa>cGa,10,125,0,83
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF708,7562,19,21476519,21476519,Missense_Mutation,SNP,T,C,c.(1249-1251)Aag>Gag,4,43,0,84
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF429,353088,19,21724671,21724671,Nonsense_Mutation,SNP,C,G,c.(331-333)tCa>tGa,4,53,0,38
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF208,7757,19,22154365,22154365,Missense_Mutation,SNP,A,T,c.(3469-3471)agT>agA,4,48,1,207
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF729,100287226,19,22499853,22499853,Missense_Mutation,SNP,A,G,c.(3634-3636)Aga>Gga,5,116,0,158
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF99,7652,19,22939769,22939769,IGR,SNP,C,T,,4,44,1,101
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RP11-15H20.6,0,19,23445174,23445174,RNA,SNP,A,G,,6,195,0,129
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF91,7644,19,23542561,23542561,Missense_Mutation,SNP,T,C,c.(3220-3222)Aga>Gga,5,78,1,150
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,AC002511.1,0,19,35899096,35899096,lincRNA,SNP,G,A,,6,37,0,48
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NFKBID,84807,19,36381499,36381499,Intron,SNP,T,C,,8,494,0,191
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NFKBID,84807,19,36381515,36381515,Intron,SNP,T,C,,11,425,0,176
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,AC092295.7,0,19,37068130,37068130,RNA,SNP,A,G,,8,254,0,94
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,AC092295.7,0,19,37068146,37068146,RNA,SNP,A,G,,8,189,0,80
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF850,342892,19,37239677,37239677,Silent,SNP,T,C,c.(2263-2265)aaA>aaG,6,58,0,172
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF568,374900,19,37469962,37469962,Silent,SNP,C,T,c.(64-66)acC>acT,5,74,0,26
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,HKR1,284459,19,37850414,37850414,Intron,SNP,C,T,,7,104,0,38
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,AXL,558,19,41727109,41727109,Missense_Mutation,SNP,C,T,c.(367-369)Cat>Tat,6,185,0,108
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,BCKDHA,593,19,41924652,41924652,Intron,SNP,T,C,,8,394,0,74
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,BCKDHA,593,19,41924703,41924703,Intron,SNP,T,C,,6,189,1,63
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CEACAM1,634,19,43020933,43020933,Intron,SNP,T,C,,6,84,0,48
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CEACAM1,634,19,43021011,43021011,Intron,SNP,G,C,,11,458,0,97
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF233,353355,19,44778574,44778574,Silent,SNP,A,T,c.(1759-1761)acA>acT,4,76,0,139
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,BAX,581,19,49463559,49463559,Intron,SNP,A,T,,9,254,0,77
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CTC-301O7.4,0,19,49835539,49835539,lincRNA,SNP,T,C,,8,123,0,154
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CTC-301O7.4,0,19,49835551,49835551,lincRNA,SNP,C,T,,5,104,0,132
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CTC-301O7.4,0,19,49835552,49835552,lincRNA,SNP,G,A,,6,105,0,124
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NUP62,23636,19,50410836,50410836,3'UTR,SNP,T,C,,7,176,0,76
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF614,80110,19,52516433,52516433,IGR,SNP,C,T,,8,156,0,75
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF841,284371,19,52569599,52569599,Silent,SNP,A,G,c.(1186-1188)ccT>ccC,4,19,0,80
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF701,55762,19,53075505,53075505,Missense_Mutation,SNP,T,A,c.(10-12)cTc>cAc,4,43,0,24
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF701,55762,19,53075587,53075587,Silent,SNP,T,C,c.(91-93)ggT>ggC,10,258,0,73
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CTD-2620I22.3,0,19,53513565,53513565,lincRNA,SNP,G,T,,6,132,0,158
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PPP6R1,22870,19,55743537,55743537,Missense_Mutation,SNP,G,C,c.(2029-2031)gaC>gaG,7,329,0,119
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF667,63934,19,56960958,56960958,Intron,SNP,C,G,,9,181,0,22
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF772,400720,19,57987069,57987069,Missense_Mutation,SNP,C,T,c.(157-159)cGt>cAt,6,133,0,123
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF584,201514,19,58927199,58927199,Intron,SNP,C,T,,5,139,0,98
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ATRN,8455,20,3596494,3596494,Intron,SNP,G,A,,10,370,0,136
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C20orf196,149840,20,5752802,5752802,Intron,SNP,A,G,,7,163,0,53
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MCM8,84515,20,5953323,5953323,Intron,SNP,G,C,,7,280,0,92
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ITCH,83737,20,33005001,33005001,Missense_Mutation,SNP,T,C,c.(553-555)tTa>tCa,11,223,1,81
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ITCH,83737,20,33005016,33005016,Missense_Mutation,SNP,T,C,c.(568-570)aTc>aCc,7,166,0,66
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,AAR2,25980,20,34858470,34858470,Missense_Mutation,SNP,G,C,c.(1003-1005)Gtg>Ctg,8,103,0,64
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,BCAS4,55653,20,49492613,49492613,Missense_Mutation,SNP,A,G,c.(568-570)cAa>cGa,8,152,0,75
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,BCAS1,8537,20,52570130,52570130,Silent,SNP,G,A,c.(1519-1521)gcC>gcT,26,586,0,282
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ARFGAP1,55738,20,61910658,61910658,Intron,SNP,G,A,,7,130,0,53
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PKNOX1,5316,21,44452249,44452249,3'UTR,SNP,T,C,,7,173,0,56
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PKNOX1,5316,21,44452250,44452250,3'UTR,SNP,G,A,,7,179,0,58
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PKNOX1,5316,21,44452259,44452259,3'UTR,SNP,C,T,,6,215,0,72
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PKNOX1,5316,21,44452260,44452260,3'UTR,SNP,G,A,,6,219,0,73
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PKNOX1,5316,21,44452261,44452261,3'UTR,SNP,C,T,,7,219,0,73
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PFKL,5211,21,45745859,45745859,Missense_Mutation,SNP,C,T,c.(2005-2007)Ccc>Tcc,5,171,0,96
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C22orf39,128977,22,19429177,19429177,IGR,SNP,A,G,,12,273,0,98
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C22orf39,128977,22,19429179,19429179,IGR,SNP,G,A,,10,269,0,101
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF74,7625,22,20753947,20753947,Intron,SNP,A,G,,5,48,0,24
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MED15,51586,22,20873189,20873189,Intron,SNP,A,G,,7,235,0,88
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PPIL2,23759,22,22039959,22039959,Intron,SNP,T,C,,9,243,0,122
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PPIL2,23759,22,22039997,22039997,3'UTR,SNP,G,C,,7,153,0,93
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SLC2A11,66035,22,24225194,24225194,Intron,SNP,G,T,,5,89,0,62
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SPECC1L,23384,22,24739531,24739531,Intron,SNP,T,C,,7,120,1,44
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CRYBA4,1413,22,27019283,27019283,Missense_Mutation,SNP,A,G,c.(124-126)gAg>gGg,66,349,0,146
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RHBDD3,25807,22,29657397,29657397,Intron,SNP,G,C,,6,133,0,92
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TOM1,10043,22,35727331,35727331,Intron,SNP,T,C,,10,350,0,118
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ARHGAP8,23779,22,45204610,45204610,Intron,SNP,A,G,,7,161,0,73
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C22orf26,0,22,46447728,46447728,Missense_Mutation,SNP,A,T,c.(394-396)aaT>aaA,11,201,0,102
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CSF2RA,1438,X,1428517,1428517,3'UTR,SNP,C,T,,9,219,0,152
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZRSR2,8233,X,15819484,15819484,Intron,SNP,C,T,,5,97,0,20
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TBX22,50945,X,79283508,79283508,Silent,SNP,T,A,c.(880-882)ctT>ctA,14,68,0,133
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,XIAP,331,X,123046451,123046451,3'UTR,SNP,T,C,,5,122,0,54
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MYOM3,127294,1,24410884,24410888,Intron,DEL,AAAAG,-,,6,47,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NIPAL3,57185,1,24780692,24780693,Intron,INS,-,T,,37,8,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RIMS3,9783,1,41094384,41094385,Intron,INS,-,T,,2,42,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RAD54L,8438,1,46733459,46733460,Intron,INS,-,T,,2,2,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,USP33,23032,1,78188946,78188947,Intron,INS,-,C,,5,23,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NBPF10,100132406,1,145367727,145367729,In_Frame_Del,DEL,GGG,-,c.(10321-10326)aagggg>aag,32,97,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RORC,6097,1,151804006,151804007,Intron,INS,-,GC,,2,28,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PKP1,5317,1,201262936,201262937,Intron,INS,-,T,,5,11,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,OPTC,26254,1,203469109,203469111,Intron,DEL,CAT,-,,11,25,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PLB1,151056,2,28820979,28820979,Intron,DEL,G,-,,4,3,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IL1RL1,9173,2,102957035,102957036,Intron,INS,-,G,,2,15,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,EPC2,26122,2,149526832,149526833,Intron,INS,-,T,,21,54,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,KIF5C,3800,2,149630231,149630232,5'Flank,INS,-,AG,,4,5,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NEB,4703,2,152375444,152375445,Intron,INS,-,T,,3,5,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GULP1,51454,2,189447047,189447048,Intron,INS,-,CCA,,3,12,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,UNC80,285175,2,210834451,210834451,Intron,DEL,A,-,,4,13,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,USP37,57695,2,219414447,219414448,Intron,INS,-,A,,5,8,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,COL4A3,1285,2,228158391,228158393,Intron,DEL,CTT,-,,6,28,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IQCA1,79781,2,237233311,237233312,3'UTR,INS,-,A,,7,60,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MLPH,79083,2,238419860,238419863,Intron,DEL,CACA,-,,5,33,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FANCD2,2177,3,10077861,10077862,Intron,DEL,TC,-,,4,23,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,Unknown,0,3,16679309,16679310,IGR,INS,-,A,,5,5,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NR1D2,9975,3,23996023,23996026,Splice_Site,DEL,TCTA,-,c.e2-1,4,8,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CTNNB1,1499,3,41275505,41275509,Intron,DEL,TTCTG,-,,4,22,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,QARS,5859,3,49138300,49138301,Intron,INS,-,A,,2,8,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,Unknown,0,3,101241255,101241256,IGR,INS,-,G,,3,16,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,POPDC2,64091,3,119361241,119361242,3'UTR,INS,-,GCC,,1,9,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IQCJ-SCHIP1,100505385,3,159605720,159605721,Intron,INS,-,TA,,3,17,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,LIPH,200879,3,185252760,185252761,Frame_Shift_Ins,INS,-,G,c.(208-210)aaafs,5,11,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RP11-573D15.8,0,3,186478893,186478893,RNA,DEL,T,-,,10,64,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ATP13A4,84239,3,193153631,193153632,Intron,INS,-,T,,2,6,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF876P,642280,4,247889,247890,RNA,INS,-,AA,,3,22,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SMIM14,201895,4,39574194,39574195,Intron,INS,-,G,,6,20,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,KIT,3815,4,55598240,55598240,Intron,DEL,A,-,,9,27,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CSN2,1447,4,70826859,70826860,5'Flank,DEL,AT,-,,2,0,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,BMP2K,55589,4,79799814,79799814,Intron,DEL,T,-,,6,2,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PPM1K,152926,4,89189615,89189616,Intron,INS,-,T,,2,6,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,DDX60,55601,4,169204740,169204741,Frame_Shift_Ins,INS,-,T,c.(1576-1581)cctcgtfs,3,14,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PRDM9,56979,5,23526349,23526350,Frame_Shift_Ins,INS,-,GT,c.(1153-1155)ccafs,10,58,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RANBP3L,202151,5,36253972,36253972,Intron,DEL,T,-,,3,3,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,Unknown,0,5,110285503,110285504,IGR,INS,-,TC,,7,25,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TRIM36,55521,5,114513601,114513601,Intron,DEL,C,-,,6,45,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MYLK4,340156,6,2675179,2675180,Intron,INS,-,GG,,6,12,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,Unknown,0,6,3978606,3978607,IGR,INS,-,CATG,,3,23,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CRISP3,10321,6,49704072,49704073,Intron,INS,-,C,,2,15,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,USP45,85015,6,99893853,99893854,Frame_Shift_Ins,INS,-,A,c.(1792-1797)tatagtfs,3,15,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MAP3K4,4216,6,161513231,161513232,Intron,INS,-,C,,3,4,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PHF10,55274,6,170112659,170112660,Intron,INS,-,C,,4,15,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PMS2CL,441194,7,6759412,6759413,RNA,INS,-,G,,9,12,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,DNAH11,8701,7,21778289,21778290,Intron,INS,-,TTG,,3,21,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,20,29,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SLC26A4,5172,7,107350590,107350591,Frame_Shift_Ins,INS,-,T,c.(2182-2184)tatfs,32,106,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,IFRD1,3475,7,112112144,112112144,Intron,DEL,G,-,,1,1,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PPP1R3A,5506,7,113558533,113558534,In_Frame_Ins,INS,-,GTGTGG,c.(517-519)tta>ttCCACACa,3,70,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CCDC136,64753,7,128457699,128457699,Intron,DEL,C,-,,7,27,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NRG1,3084,8,32607160,32607160,Intron,DEL,T,-,,9,8,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MATN2,4147,8,99044617,99044618,Intron,INS,-,ACC,,2,21,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,OC90,729330,8,133041490,133041491,Intron,INS,-,GG,,1,44,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,VPS13A,23230,9,79836054,79836054,Intron,DEL,C,-,,6,37,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF483,158399,9,114304358,114304359,Frame_Shift_Ins,INS,-,A,c.(1144-1146)aagfs,7,22,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RBM18,92400,9,125004358,125004359,Intron,DEL,AG,-,,6,9,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,EXD3,54932,9,140260465,140260468,Intron,DEL,TGGG,-,,4,19,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GTPBP4,23560,10,1043352,1043352,Intron,DEL,A,-,,3,13,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CDC123,8872,10,12277184,12277185,Intron,INS,-,A,,12,12,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,MYOF,26509,10,95111448,95111448,Frame_Shift_Del,DEL,T,-,c.(3637-3639)atgfs,1,4,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GBF1,8729,10,104111515,104111516,Intron,INS,-,T,,5,3,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NRAP,4892,10,115366168,115366168,Intron,DEL,A,-,,2,0,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,WDR11,55717,10,122659739,122659743,Intron,DEL,TAAAG,-,,4,21,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TEAD1,7003,11,12958815,12958820,3'UTR,DEL,TATGTG,-,,8,16,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SPI1,6688,11,47380066,47380067,Intron,DEL,GC,-,,12,3,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TUT1,64852,11,62350026,62350031,Intron,DEL,ATTGCA,-,,6,221,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,OR8B12,219858,11,124412898,124412902,Frame_Shift_Del,DEL,GCATA,-,c.(649-654)tatgccfs,3,69,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ERC1,23085,12,1353874,1353877,Intron,DEL,TTAG,-,,5,11,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,AQP2,359,12,50348248,50348249,Intron,INS,-,A,,11,60,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GALNT6,11226,12,51748116,51748117,3'UTR,INS,-,A,,4,8,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SCN8A,6334,12,52106487,52106488,Intron,INS,-,T,,6,13,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PAN2,9924,12,56716743,56716744,Intron,INS,-,T,,16,10,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SLC6A15,55117,12,85285865,85285866,Frame_Shift_Del,DEL,AA,-,c.(34-36)ttafs,4,25,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,HSP90B1,7184,12,104341113,104341115,In_Frame_Del,DEL,CCT,-,c.(2287-2289)cctdel,16,40,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ATP7B,540,13,52516793,52516794,Intron,INS,-,G,,5,42,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NEK5,341676,13,52650291,52650292,Intron,INS,-,AAC,,3,5,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,Unknown,0,14,20996330,20996332,IGR,DEL,TCA,-,,0,14,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TOX4,9878,14,21960687,21960688,Frame_Shift_Del,DEL,AT,-,c.(910-915)gaattgfs,3,16,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TRAV18,28665,14,22470650,22470650,RNA,DEL,G,-,,10,14,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PLEKHH1,57475,14,68042366,68042367,Intron,INS,-,CG,,1,4,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SMOC1,64093,14,70444830,70444833,Intron,DEL,GAAG,-,,2,2,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SMEK1,55671,14,91929000,91929001,Intron,INS,-,G,,3,15,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TRIP11,9321,14,92493073,92493074,Intron,INS,-,A,,14,105,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,RD3L,647286,14,104408057,104408058,Intron,INS,-,TTT,,3,3,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,PEAK1,79834,15,77473354,77473355,Frame_Shift_Ins,INS,-,C,c.(913-915)tgtfs,3,26,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,C16orf62,57020,16,19638927,19638928,Intron,INS,-,T,,3,8,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ZNF646,9726,16,31091112,31091112,Frame_Shift_Del,DEL,T,-,c.(3466-3468)cttfs,120,215,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FUS,2521,16,31199560,31199561,Intron,DEL,CC,-,,6,45,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,LPCAT2,54947,16,55562297,55562298,Frame_Shift_Ins,INS,-,A,c.(319-324)actcaafs,4,12,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,LPCAT2,54947,16,55566590,55566590,Intron,DEL,T,-,,3,1,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,GAS7,8522,17,9822720,9822720,Intron,DEL,A,-,,4,3,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ATPAF2,91647,17,17927796,17927797,Intron,INS,-,T,,3,12,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,TMEM199,147007,17,26682703,26682704,5'Flank,INS,-,CT,,5,1,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,NF1,4763,17,29559267,29559268,Intron,INS,-,C,,5,21,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,ACACA,31,17,35446130,35446132,Intron,DEL,TCA,-,,3,19,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,CYP4F8,11283,19,15729137,15729137,RNA,DEL,G,-,,21,84,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,FUT1,2523,19,49254370,49254371,Frame_Shift_Ins,INS,-,A,c.(166-171)tgcctgfs,4,66,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,SSC5D,284297,19,56029967,56029968,Frame_Shift_Ins,INS,-,A,c.(4324-4326)cttfs,2,24,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,BFSP1,631,20,17475641,17475642,Frame_Shift_Ins,INS,-,T,c.(1075-1077)gcafs,7,31,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,EFCAB8,388795,20,31484388,31484389,Intron,INS,-,A,,8,33,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,KRTAP10-12,386685,21,46117883,46117884,3'UTR,INS,-,C,,1,7,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,H1F0,3005,22,38202083,38202088,In_Frame_Del,DEL,CCAGTG,-,c.(532-537)ccagtgdel,5,182,,
RP-1532_PCProject_0013_T1_v2_Exome_OnPrem,Unknown,0,X,27479153,27479154,IGR,INS,-,GGG,,5,34,,
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,CASZ1,54897,1,10699872,10699872,Silent,SNP,G,A,c.(4405-4407)tgC>tgT,5,481,0,301
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,LAPTM5,7805,1,31215363,31215363,Missense_Mutation,SNP,C,T,c.(121-123)Gta>Ata,8,395,0,164
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,TIPRL,261726,1,168169248,168169248,Silent,SNP,C,T,c.(781-783)aaC>aaT,65,282,0,145
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,RYR2,6262,1,237608771,237608771,Missense_Mutation,SNP,G,A,c.(1240-1242)cGc>cAc,8,590,0,180
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,EHD3,30845,2,31483636,31483636,Missense_Mutation,SNP,G,A,c.(763-765)Ggc>Agc,62,218,0,136
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,STRN,6801,2,37078138,37078138,Intron,SNP,C,T,,23,249,0,59
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,THNSL2,55258,2,88478438,88478438,Silent,SNP,C,T,c.(706-708)ttC>ttT,13,782,0,330
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,IWS1,55677,2,128244248,128244248,Intron,SNP,A,G,,5,286,1,112
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,COBLL1,22837,2,165548834,165548834,Missense_Mutation,SNP,A,G,c.(3424-3426)aTg>aCg,96,299,0,110
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,HOXD3,3232,2,177036270,177036270,Silent,SNP,G,A,c.(565-567)ccG>ccA,10,59,0,31
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,TRIP12,9320,2,230650508,230650508,Missense_Mutation,SNP,A,C,c.(4834-4836)Tca>Gca,93,265,0,106
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,KLHL40,131377,3,42729686,42729686,Missense_Mutation,SNP,G,A,c.(1204-1206)cGc>cAc,21,391,0,215
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,IGSF10,285313,3,151165081,151165081,Silent,SNP,C,A,c.(2686-2688)ctG>ctT,201,520,0,248
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,USP46,64854,4,53492214,53492214,Missense_Mutation,SNP,T,A,c.(532-534)Aat>Tat,84,284,0,149
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,FAT4,79633,4,126242091,126242091,Missense_Mutation,SNP,C,T,c.(4525-4527)Cgg>Tgg,111,342,0,161
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,TLR2,7097,4,154625098,154625098,Missense_Mutation,SNP,A,G,c.(1039-1041)Aaa>Gaa,94,247,0,123
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,RAB3C,115827,5,57913553,57913553,Silent,SNP,C,T,c.(106-108)atC>atT,9,306,0,110
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,PDE4D,5144,5,59188996,59188996,Splice_Site,SNP,G,A,c.(454-456)Cgt>Tgt,24,387,0,165
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,COX7C,1350,5,85913916,85913916,Missense_Mutation,SNP,G,A,c.(43-45)cGt>cAt,5,594,0,169
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,SLCO6A1,133482,5,101834475,101834475,Missense_Mutation,SNP,G,A,c.(73-75)gCg>gTg,97,288,0,152
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,PPIP5K2,23262,5,102520364,102520364,Intron,SNP,C,T,,8,181,0,61
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,AFAP1L1,134265,5,148695459,148695459,Missense_Mutation,SNP,C,T,c.(1096-1098)Cgg>Tgg,122,373,0,193
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,WWC1,23286,5,167855091,167855091,Missense_Mutation,SNP,G,A,c.(1864-1866)Gta>Ata,5,386,0,128
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,RBM24,221662,6,17292146,17292146,Silent,SNP,C,T,c.(505-507)gcC>gcT,5,351,0,78
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,GRID2IP,392862,7,6542766,6542766,Missense_Mutation,SNP,C,T,c.(2935-2937)cGc>cAc,23,84,0,71
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,MGAM,8972,7,141765205,141765205,Missense_Mutation,SNP,T,G,c.(4555-4557)Tgg>Ggg,157,558,0,270
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,KCNB2,9312,8,73480173,73480173,Missense_Mutation,SNP,C,A,c.(202-204)aaC>aaA,36,214,0,77
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,DCAF4L2,138009,8,88885910,88885910,Missense_Mutation,SNP,G,C,c.(289-291)tCc>tGc,152,485,0,238
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,CHRAC1,54108,8,141525333,141525333,Missense_Mutation,SNP,A,C,c.(382-384)gAa>gCa,23,263,0,83
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,ZNF251,90987,8,145948055,145948055,Missense_Mutation,SNP,A,C,c.(988-990)ttT>ttG,47,135,0,76
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,PTPRD,5789,9,8521543,8521543,Missense_Mutation,SNP,C,T,c.(694-696)cGc>cAc,78,198,0,104
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,NDUFB6,4712,9,32572953,32572953,Missense_Mutation,SNP,G,C,c.(106-108)Ccc>Gcc,40,125,0,47
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,ERCC6L2,375748,9,98732918,98732918,5'Flank,SNP,C,A,,24,294,0,138
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,CAMK2G,818,10,75597234,75597234,Missense_Mutation,SNP,C,T,c.(982-984)Ggt>Agt,104,358,0,186
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,EXOC6,54536,10,94700496,94700496,Missense_Mutation,SNP,C,T,c.(1225-1227)Cca>Tca,13,253,0,134
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,SORCS1,114815,10,108412242,108412242,Silent,SNP,C,T,c.(2371-2373)aaG>aaA,125,425,0,104
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,MXI1,4601,10,111988030,111988030,Missense_Mutation,SNP,C,T,c.(157-159)Cgg>Tgg,6,647,0,213
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,STIM1,6786,11,4107737,4107737,Missense_Mutation,SNP,G,A,c.(1504-1506)cGc>cAc,40,454,0,190
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,OR6A2,8590,11,6816794,6816794,Missense_Mutation,SNP,G,T,c.(145-147)gCa>gAa,201,672,0,248
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,MALAT1,378938,11,65271093,65271093,lincRNA,SNP,G,C,,51,135,0,66
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,VPS11,55823,11,118949988,118949988,Missense_Mutation,SNP,G,A,c.(2413-2415)Gag>Aag,51,120,0,66
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,LDHB,3945,12,21794891,21794891,Nonsense_Mutation,SNP,G,T,c.(589-591)tCa>tAa,7,511,0,143
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,H3F3C,440093,12,31944960,31944960,Silent,SNP,C,T,c.(139-141)gcG>gcA,11,546,0,282
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,LRRK2,120892,12,40677675,40677675,Splice_Site,SNP,A,G,c.e19-1,131,376,0,136
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,KMT2D,8085,12,49436667,49436667,Intron,SNP,G,A,,36,79,0,80
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,DACH1,1602,13,72440556,72440556,Missense_Mutation,SNP,C,T,c.(352-354)Ggc>Agc,4,161,0,111
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,MAGEL2,54551,15,23891084,23891084,5'UTR,SNP,C,T,,112,322,0,160
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,CTDSPL2,51496,15,44811390,44811390,Missense_Mutation,SNP,G,T,c.(1135-1137)tGt>tTt,9,178,0,58
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,ST8SIA2,8128,15,92981732,92981732,Missense_Mutation,SNP,C,T,c.(439-441)tCg>tTg,147,329,0,163
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,SRRM2,23524,16,2818173,2818173,Silent,SNP,G,A,c.(7642-7644)tcG>tcA,4,110,1,74
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,OTOA,146183,16,21698929,21698929,Missense_Mutation,SNP,C,T,c.(595-597)Cgg>Tgg,16,425,0,197
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,SALL1,6299,16,51174728,51174728,Missense_Mutation,SNP,G,A,c.(1405-1407)Cgt>Tgt,20,359,0,151
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,SPG7,6687,16,89579424,89579424,Missense_Mutation,SNP,A,G,c.(355-357)Aag>Gag,5,437,0,282
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,KDM6B,23135,17,7756616,7756616,Missense_Mutation,SNP,G,A,c.(4825-4827)cGc>cAc,5,409,0,229
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,RCVRN,5957,17,9808279,9808279,Silent,SNP,G,A,c.(217-219)ttC>ttT,75,411,0,249
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,CPD,1362,17,28772927,28772927,Missense_Mutation,SNP,G,A,c.(2761-2763)cGc>cAc,5,438,0,181
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,MSL1,339287,17,38279243,38279243,Silent,SNP,C,T,c.(376-378)agC>agT,13,230,0,132
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,DNAH17,8632,17,76468755,76468755,Intron,SNP,G,A,,21,128,0,69
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,PTPRM,5797,18,8248150,8248150,Intron,SNP,C,T,,106,416,0,162
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,ROCK1,6093,18,18550321,18550321,Missense_Mutation,SNP,G,C,c.(2806-2808)caC>caG,4,216,0,80
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,RFX1,5989,19,14083686,14083686,Missense_Mutation,SNP,C,T,c.(1183-1185)Ggt>Agt,36,139,0,162
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,SSBP4,170463,19,18542160,18542160,Intron,SNP,T,C,,7,42,1,29
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,ZNF850,342892,19,37239593,37239593,Silent,SNP,C,T,c.(2347-2349)aaG>aaA,8,365,1,146
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,ZNF850,342892,19,37239608,37239608,Silent,SNP,T,A,c.(2332-2334)atA>atT,9,390,1,166
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,GLTSCR1,29998,19,48202240,48202240,Missense_Mutation,SNP,C,T,c.(3415-3417)aCg>aTg,75,217,0,191
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,RUVBL2,10856,19,49502624,49502624,Nonsense_Mutation,SNP,C,T,c.(61-63)Cga>Tga,5,417,0,230
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,CSTF1,1477,20,54972815,54972815,Missense_Mutation,SNP,T,C,c.(562-564)cTg>cCg,204,640,0,257
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,BCR,613,22,23523632,23523632,Missense_Mutation,SNP,G,A,c.(484-486)cGc>cAc,6,58,0,42
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,USP9X,8239,X,41007707,41007707,Missense_Mutation,SNP,T,G,c.(1504-1506)gTg>gGg,13,402,0,128
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,UBE2DNL,100131816,X,84189629,84189629,RNA,SNP,C,T,,99,84,0,55
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,DACH2,117154,X,85439336,85439336,Intron,SNP,C,T,,10,7,0,10
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,RENBP,5973,X,153208364,153208364,Silent,SNP,C,T,c.(628-630)gcG>gcA,10,143,0,87
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,SCNM1,79005,1,151143329,151143330,IGR,INS,-,T,,15,60,,
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,HSF2,3298,6,122733680,122733681,Intron,INS,-,T,,22,35,,
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,STAT5B,6777,17,40370235,40370236,Frame_Shift_Ins,INS,-,G,c.(1102-1104)cagfs,98,293,,
RP-1532_PCProject_0022_T1_v3_Exome_OnPrem,STXBP2,6813,19,7706774,7706774,Intron,DEL,C,-,,36,95,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CALML6,163688,1,1848287,1848287,Missense_Mutation,SNP,G,A,c.(349-351)cGt>cAt,8,206,0,139
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,KLHL21,9903,1,6655477,6655477,Intron,SNP,C,T,,5,70,0,100
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CAMTA1,23261,1,7797517,7797517,Missense_Mutation,SNP,G,A,c.(3544-3546)tGt>tAt,6,142,0,202
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,RBP7,116362,1,10067027,10067027,Intron,SNP,T,C,,5,89,0,75
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,WNT4,54361,1,22446746,22446746,Missense_Mutation,SNP,G,A,c.(853-855)Cgc>Tgc,9,446,0,321
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ZNF691,51058,1,43317357,43317357,Missense_Mutation,SNP,A,G,c.(727-729)cAg>cGg,29,111,0,211
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,C1orf177,163747,1,55277543,55277543,Missense_Mutation,SNP,G,A,c.(556-558)cGg>cAg,6,200,0,161
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,KANK4,163782,1,62740539,62740539,Silent,SNP,C,G,c.(235-237)ggG>ggC,12,69,0,140
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TRIM33,51592,1,114940332,114940332,Missense_Mutation,SNP,C,T,c.(3322-3324)Gac>Aac,6,228,0,275
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,APH1A,51107,1,150240131,150240131,Missense_Mutation,SNP,G,A,c.(343-345)Cgc>Tgc,26,110,0,142
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CERS2,29956,1,150939632,150939632,Missense_Mutation,SNP,A,C,c.(658-660)aTc>aGc,4,123,0,145
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,FLG,2312,1,152280112,152280112,Missense_Mutation,SNP,T,C,c.(7249-7251)cAg>cGg,43,171,0,396
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,RCSD1,92241,1,167653172,167653172,Silent,SNP,C,T,c.(40-42)aaC>aaT,6,230,0,129
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,RFWD2,64326,1,176069424,176069424,Intron,SNP,G,C,,4,46,0,50
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SMG7,9887,1,183520036,183520036,Missense_Mutation,SNP,G,A,c.(3133-3135)cGg>cAg,5,66,0,139
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ELK4,2005,1,205589829,205589829,Missense_Mutation,SNP,G,C,c.(343-345)agC>agG,29,131,0,177
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ZNF695,57116,1,247159468,247159468,Intron,SNP,C,T,,3,4,0,39
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CAD,790,2,27455501,27455501,Missense_Mutation,SNP,G,A,c.(2641-2643)cGt>cAt,6,173,0,220
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,MCFD2,90411,2,47144389,47144389,Intron,SNP,C,A,,6,139,0,122
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SPTBN1,6711,2,54891786,54891786,Missense_Mutation,SNP,G,A,c.(6616-6618)cGg>cAg,6,115,1,86
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,MARCO,8685,2,119739064,119739064,Silent,SNP,C,T,c.(844-846)ttC>ttT,6,23,0,109
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,RAB3GAP1,22930,2,135893434,135893434,Missense_Mutation,SNP,C,T,c.(1855-1857)Cgg>Tgg,4,40,0,115
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CASP8,841,2,202142486,202142486,Intron,SNP,T,C,,4,42,0,34
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SLC16A14,151473,2,230931433,230931433,Intron,SNP,T,C,,6,66,0,27
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CELSR3,1951,3,48691435,48691435,Splice_Site,SNP,G,C,c.(5152-5154)ggC>ggG,9,51,0,75
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,LAMB2,3913,3,49167334,49167334,Missense_Mutation,SNP,C,T,c.(1342-1344)cGc>cAc,9,143,0,169
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,RBM5,10181,3,50153348,50153348,Missense_Mutation,SNP,G,T,c.(2029-2031)Gac>Tac,24,91,0,83
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ARHGEF3,50650,3,57041371,57041371,Intron,SNP,G,A,,29,124,0,83
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,FLNB,2317,3,58084616,58084616,Silent,SNP,C,T,c.(1324-1326)ttC>ttT,6,222,0,235
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,PTPRG,5793,3,62153724,62153724,Missense_Mutation,SNP,G,T,c.(919-921)cGa>cTa,31,181,0,230
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ARL13B,200894,3,93715481,93715481,Intron,SNP,A,C,,5,149,0,123
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,HSPBAP1,79663,3,122477707,122477707,Intron,SNP,A,G,,4,57,0,80
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ADCY5,111,3,123003542,123003542,Silent,SNP,G,A,c.(3697-3699)taC>taT,40,114,0,153
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ADCY5,111,3,123046498,123046498,Silent,SNP,C,T,c.(1912-1914)gaG>gaA,28,99,0,86
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ACAD9,28976,3,128617278,128617278,Intron,SNP,C,T,,5,62,0,53
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,COMMD2,51122,3,149459425,149459425,Silent,SNP,G,A,c.(481-483)aaC>aaT,7,257,1,236
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SLC7A14,57709,3,170201265,170201265,Missense_Mutation,SNP,G,A,c.(952-954)aCg>aTg,8,201,1,245
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,LRRC15,131578,3,194080771,194080771,Silent,SNP,C,T,c.(1000-1002)ccG>ccA,5,109,0,204
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,DLG1,1739,3,196803494,196803494,Intron,SNP,G,T,,20,106,0,106
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ZNF141,7700,4,352171,352171,Intron,SNP,C,T,,3,4,0,17
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ZNF141,7700,4,352172,352172,Intron,SNP,A,G,,3,3,0,17
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TBC1D1,23216,4,37962522,37962522,Intron,SNP,A,T,,13,135,0,243
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CNGA1,1259,4,47972960,47972960,5'UTR,SNP,A,G,,4,29,0,65
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,THAP6,152815,4,76474821,76474821,Missense_Mutation,SNP,A,G,c.(250-252)Act>Gct,5,90,0,78
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,WDFY3,23001,4,85645657,85645657,Missense_Mutation,SNP,C,T,c.(7363-7365)Gcc>Acc,6,128,0,126
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,DSPP,1834,4,88536114,88536114,Missense_Mutation,SNP,G,A,c.(2299-2301)aGc>aAc,9,594,0,648
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SEC24B,10427,4,110384600,110384600,Missense_Mutation,SNP,C,T,c.(676-678)tCa>tTa,9,71,0,131
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,FAT4,79633,4,126373626,126373626,Nonsense_Mutation,SNP,C,T,c.(11455-11457)Cga>Tga,5,92,0,176
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,MEGF10,84466,5,126758369,126758369,Missense_Mutation,SNP,C,T,c.(1597-1599)aCg>aTg,6,164,0,149
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,FBXO38,81545,5,147781676,147781676,Missense_Mutation,SNP,C,G,c.(394-396)Cta>Gta,4,55,0,52
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,DDR1,780,6,30864590,30864590,Missense_Mutation,SNP,C,T,c.(1816-1818)cCt>cTt,3,6,1,26
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,DPCR1,135656,6,30918505,30918505,Missense_Mutation,SNP,C,T,c.(2263-2265)tCc>tTc,7,179,0,314
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,RP11-307P5.1,0,6,148050953,148050953,lincRNA,SNP,A,G,,6,138,0,160
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,RAET1E,135250,6,150209733,150209733,Silent,SNP,C,T,c.(691-693)ggG>ggA,5,110,0,98
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,LPAL2,80350,6,160913844,160913844,RNA,SNP,T,C,,4,34,1,136
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,C7orf26,79034,7,6639596,6639596,Silent,SNP,G,A,c.(715-717)ccG>ccA,5,132,1,172
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,KCTD7,154881,7,66238678,66238678,Splice_Site,SNP,G,A,c.(178-180)cgG>cgA,8,259,0,191
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,KCTD7,154881,7,66238696,66238696,Silent,SNP,T,A,c.(196-198)ccT>ccA,7,254,0,182
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,RABGEF1,27342,7,66261815,66261815,3'UTR,SNP,C,T,,6,38,1,47
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,COL1A2,1278,7,94044581,94044581,Splice_Site,SNP,G,A,c.(1762-1764)aGa>aAa,7,128,0,170
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ACHE,43,7,100488790,100488790,Splice_Site,SNP,C,T,c.(1723-1725)Gac>Aac,5,134,0,82
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,MYL10,93408,7,101272318,101272318,Intron,SNP,T,C,,5,52,0,58
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CUX1,1523,7,101870684,101870684,Silent,SNP,C,T,c.(3166-3168)gcC>gcT,5,55,0,67
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,FDFT1,2222,8,11659426,11659426,5'Flank,SNP,T,C,,4,59,0,115
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ZNF703,80139,8,37553532,37553532,Missense_Mutation,SNP,C,T,c.(34-36)aCa>aTa,7,136,0,135
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ADAM9,8754,8,38940559,38940559,Missense_Mutation,SNP,G,A,c.(2035-2037)Gga>Aga,5,108,0,158
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,INTS8,55656,8,95869179,95869179,Nonsense_Mutation,SNP,C,T,c.(1927-1929)Cga>Tga,27,90,0,143
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ENY2,56943,8,110354930,110354930,Missense_Mutation,SNP,G,A,c.(226-228)Gcc>Acc,7,189,0,166
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,PTK2,5747,8,141670709,141670709,Intron,SNP,A,C,,6,172,0,146
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,PLEC,5339,8,144995481,144995481,Silent,SNP,G,A,c.(8917-8919)gaC>gaT,7,298,0,237
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TEX10,54881,9,103109046,103109046,Missense_Mutation,SNP,C,T,c.(823-825)Gac>Aac,5,29,0,79
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,C5,727,9,123762229,123762229,Intron,SNP,T,C,,5,48,0,52
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,OR1N2,138882,9,125315669,125315669,Missense_Mutation,SNP,C,T,c.(220-222)aCt>aTt,6,42,0,138
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TSC1,7248,9,135802688,135802688,Missense_Mutation,SNP,C,A,c.(109-111)cGt>cTt,39,143,0,336
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,C9orf141,0,9,139863832,139863832,Nonsense_Mutation,SNP,C,T,c.(13-15)Cag>Tag,6,116,0,89
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TUBB4B,10383,9,140137606,140137606,Silent,SNP,G,A,c.(934-936)acG>acA,6,142,0,176
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,NCOA4,8031,10,51573393,51573393,Intron,SNP,G,A,,7,230,0,94
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SUPV3L1,6832,10,70968609,70968609,Missense_Mutation,SNP,G,A,c.(2179-2181)Gat>Aat,20,53,0,205
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,DUSP5,1847,10,112258057,112258057,Missense_Mutation,SNP,G,A,c.(178-180)Gtg>Atg,6,129,1,129
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,IGSF22,283284,11,18738541,18738541,Missense_Mutation,SNP,G,A,c.(979-981)cCa>cTa,3,11,0,74
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CD6,923,11,60775280,60775280,Missense_Mutation,SNP,G,A,c.(367-369)Ggg>Agg,5,60,0,51
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SLC3A2,6520,11,62644260,62644260,Intron,SNP,A,G,,4,67,0,46
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,EHBP1L1,254102,11,65352988,65352988,Missense_Mutation,SNP,C,T,c.(3859-3861)Cgc>Tgc,11,912,0,427
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,EHBP1L1,254102,11,65353020,65353020,Silent,SNP,G,A,c.(3889-3891)tcG>tcA,13,958,1,436
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SPTBN2,6712,11,66458916,66458916,Missense_Mutation,SNP,C,T,c.(5404-5406)Gag>Aag,10,269,0,147
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ERC1,23085,12,1353735,1353735,Intron,SNP,A,T,,10,173,0,156
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TSPAN9,10867,12,3389553,3389553,Silent,SNP,C,T,c.(334-336)aaC>aaT,6,115,0,86
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TNFRSF1A,7132,12,6441099,6441099,Intron,SNP,A,G,,4,18,0,16
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TNFRSF1A,7132,12,6441133,6441133,Intron,SNP,T,C,,6,52,0,22
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SLC15A5,729025,12,16430313,16430313,Missense_Mutation,SNP,C,T,c.(307-309)Gtc>Atc,4,26,0,65
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TMTC1,83857,12,29819200,29819200,Intron,SNP,A,G,,4,36,0,44
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TMTC1,83857,12,29908767,29908767,Silent,SNP,G,T,c.(604-606)ccC>ccA,7,146,0,149
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SLC48A1,55652,12,48174381,48174381,3'UTR,SNP,A,G,,6,34,0,64
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ATXN2,6311,12,111951163,111951163,Missense_Mutation,SNP,C,T,c.(2035-2037)gGg>gAg,6,147,0,173
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CLYBL,171425,13,100529933,100529933,Intron,SNP,T,C,,4,18,0,28
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,MYH7,4625,14,23886458,23886458,Missense_Mutation,SNP,G,A,c.(4423-4425)Cgc>Tgc,6,159,1,260
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,POMT2,29954,14,77757703,77757703,Silent,SNP,C,T,c.(1135-1137)aaG>aaA,5,150,0,122
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SERPINA13P,388007,14,95107649,95107649,RNA,SNP,C,T,,3,8,0,34
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,RPAP1,26015,15,41812834,41812834,Missense_Mutation,SNP,C,T,c.(3550-3552)Gcc>Acc,8,125,0,187
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,EPB42,2038,15,43508514,43508514,Missense_Mutation,SNP,G,A,c.(148-150)Cgt>Tgt,7,239,0,280
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ONECUT1,3175,15,53081519,53081519,Missense_Mutation,SNP,C,T,c.(562-564)gGc>gAc,3,2,0,35
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,MYO1E,4643,15,59429571,59429571,3'UTR,SNP,C,T,,7,201,0,216
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,Unknown,0,15,78276611,78276611,IGR,SNP,C,T,,3,9,0,52
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,Unknown,0,15,78276612,78276612,IGR,SNP,C,T,,3,9,1,52
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,MYH11,4629,16,15851746,15851746,Missense_Mutation,SNP,C,T,c.(1513-1515)Gag>Aag,7,285,1,351
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ABCC6,368,16,16244035,16244035,Silent,SNP,C,T,c.(4465-4467)caG>caA,6,218,0,219
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,OTOA,146183,16,21698967,21698967,Silent,SNP,C,T,c.(631-633)aaC>aaT,7,206,0,256
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CCDC101,112869,16,28599932,28599932,Intron,SNP,T,C,,5,72,0,77
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ZNF267,10308,16,31927543,31927543,Missense_Mutation,SNP,G,A,c.(1972-1974)aGa>aAa,9,152,0,276
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,KCTD19,146212,16,67337057,67337057,Missense_Mutation,SNP,C,T,c.(634-636)cGc>cAc,6,177,0,116
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,LRRC36,55282,16,67396105,67396105,Intron,SNP,G,A,,6,189,0,75
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ZFPM1,161882,16,88580836,88580836,Missense_Mutation,SNP,C,T,c.(310-312)Cgg>Tgg,7,315,0,187
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ANKRD11,29123,16,89349716,89349716,Silent,SNP,C,T,c.(3232-3234)gcG>gcA,7,302,0,451
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,WDR81,124997,17,1633694,1633694,Missense_Mutation,SNP,C,T,c.(3688-3690)Cgc>Tgc,9,123,0,69
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,RARA,5914,17,38487509,38487509,Silent,SNP,C,T,c.(37-39)ggC>ggT,5,107,0,51
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,KRT31,3881,17,39553202,39553202,Missense_Mutation,SNP,C,T,c.(394-396)Gac>Aac,5,109,0,151
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,KRT9,3857,17,39723639,39723639,Silent,SNP,A,G,c.(1756-1758)caT>caC,5,94,1,150
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,WNK4,65266,17,40945893,40945893,Intron,SNP,T,C,,5,111,0,69
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,RP11-156P1.2,0,17,45043990,45043990,Missense_Mutation,SNP,T,C,c.(673-675)aTa>aCa,4,56,0,87
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SPOP,8405,17,47696644,47696644,Missense_Mutation,SNP,A,T,c.(304-306)Ttc>Atc,21,84,0,148
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CANT1,124583,17,76991115,76991115,Missense_Mutation,SNP,C,T,c.(820-822)Ggc>Agc,6,254,0,199
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CEP192,55125,18,13113580,13113580,Intron,SNP,C,T,,5,162,0,161
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CTAGE1,64693,18,19995805,19995805,5'Flank,SNP,C,T,,19,214,1,406
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,MYO5B,4645,18,47402072,47402072,Missense_Mutation,SNP,G,C,c.(3520-3522)gaC>gaG,47,129,0,295
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,MBD3,53615,19,1575265,1575265,IGR,SNP,T,C,,6,39,0,58
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TBXA2R,6915,19,3594948,3594948,3'UTR,SNP,T,C,,6,242,0,120
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,MAP2K2,5605,19,4097316,4097316,Silent,SNP,G,A,c.(943-945)gcC>gcT,6,203,0,176
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TRAPPC5,126003,19,7747477,7747477,Missense_Mutation,SNP,G,A,c.(337-339)cGc>cAc,7,402,0,214
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TIMM44,10469,19,8000021,8000021,Missense_Mutation,SNP,C,T,c.(322-324)Gag>Aag,7,414,0,240
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CERS4,79603,19,8326624,8326624,Missense_Mutation,SNP,G,C,c.(901-903)Ggc>Cgc,5,184,0,186
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,COL5A3,50509,19,10114368,10114368,Missense_Mutation,SNP,G,A,c.(721-723)aCc>aTc,5,74,0,81
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ZNF700,90592,19,12060671,12060671,Missense_Mutation,SNP,G,A,c.(1831-1833)gGt>gAt,6,213,1,358
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,MAN2B1,4125,19,12777347,12777347,Intron,SNP,C,T,,6,188,0,179
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TMEM161A,54929,19,19230874,19230874,Silent,SNP,G,A,c.(1303-1305)gcC>gcT,5,167,0,170
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ZNF253,56242,19,20002624,20002624,Missense_Mutation,SNP,C,T,c.(568-570)Cat>Tat,5,84,0,203
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ZNF429,353088,19,21724649,21724649,Missense_Mutation,SNP,G,A,c.(310-312)Gat>Aat,4,21,0,31
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ZNF729,100287226,19,22498344,22498344,Missense_Mutation,SNP,G,A,c.(2125-2127)Gag>Aag,6,130,0,353
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ZNF99,7652,19,22937032,22937032,IGR,SNP,G,A,,4,47,0,112
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,USF2,7392,19,35760519,35760519,Missense_Mutation,SNP,G,A,c.(145-147)Gtg>Atg,7,395,0,213
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SIRT2,22933,19,39369757,39369757,3'UTR,SNP,C,T,,3,1,0,19
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,PSG8,440533,19,43268189,43268189,Silent,SNP,G,A,c.(307-309)tcC>tcT,4,65,0,119
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CEACAM16,388551,19,45207406,45207406,Silent,SNP,C,T,c.(499-501)aaC>aaT,6,262,0,129
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,NTN5,126147,19,49165265,49165265,Missense_Mutation,SNP,G,A,c.(1138-1140)gCg>gTg,7,424,0,150
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ZNF468,90333,19,53357535,53357535,De_novo_Start_OutOfFrame,SNP,C,A,,24,102,0,133
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,NINL,22981,20,25469933,25469933,Missense_Mutation,SNP,C,A,c.(1624-1626)Gcc>Tcc,25,89,0,146
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,BPIFB4,149954,20,31680265,31680265,Splice_Site,SNP,C,T,c.(1144-1146)aCg>aTg,10,37,0,138
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SAMHD1,25939,20,35555589,35555589,Nonsense_Mutation,SNP,C,T,c.(691-693)tGg>tAg,6,196,0,219
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SALL4,57167,20,50407931,50407931,Missense_Mutation,SNP,G,A,c.(1090-1092)cCg>cTg,4,69,0,172
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,GNAS,2778,20,57430181,57430181,Missense_Mutation,SNP,G,A,c.(1861-1863)Ggt>Agt,9,509,0,451
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,IGHV1OR21-1,390530,21,10862652,10862652,RNA,SNP,G,T,,10,131,0,352
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,HLCS,3141,21,38128960,38128960,Nonsense_Mutation,SNP,A,T,c.(1891-1893)tTa>tAa,65,230,0,247
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TMPRSS2,7113,21,42852518,42852518,Missense_Mutation,SNP,C,T,c.(457-459)Gga>Aga,9,480,1,286
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SLC25A18,83733,22,18065401,18065401,Missense_Mutation,SNP,G,A,c.(271-273)cGg>cAg,25,52,0,80
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SPECC1L,23384,22,24739531,24739531,Intron,SNP,T,C,,5,32,0,64
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,PACSIN2,11252,22,43287018,43287018,Missense_Mutation,SNP,C,T,c.(388-390)Gag>Aag,54,222,0,215
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,KIAA1644,85352,22,44681507,44681507,Missense_Mutation,SNP,G,A,c.(400-402)Cgg>Tgg,5,94,0,155
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ARHGAP8,23779,22,45204906,45204906,Missense_Mutation,SNP,G,T,c.(319-321)tGg>tTg,4,9,1,62
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,FBLN1,2192,22,45944518,45944518,Silent,SNP,C,T,c.(1465-1467)acC>acT,6,228,0,200
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,GK,2710,X,30714771,30714771,Missense_Mutation,SNP,C,T,c.(700-702)Cgg>Tgg,7,137,0,130
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,USP9X,8239,X,41027409,41027409,Silent,SNP,G,A,c.(2572-2574)agG>agA,5,29,0,44
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SHROOM4,57477,X,50334908,50334908,3'UTR,SNP,A,G,,3,4,0,66
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,HUWE1,10075,X,53579312,53579312,Silent,SNP,C,T,c.(8839-8841)ccG>ccA,5,75,0,148
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,THOC2,57187,X,122755392,122755392,Missense_Mutation,SNP,C,T,c.(3832-3834)Gaa>Aaa,4,30,0,68
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,NIPAL3,57185,1,24780692,24780693,Intron,INS,-,T,,19,0,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SRSF4,6429,1,29475405,29475406,Frame_Shift_Ins,INS,-,A,c.(1000-1002)agcfs,8,32,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,BTBD19,149478,1,45277902,45277905,Intron,DEL,CCAA,-,,3,3,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,RORC,6097,1,151804006,151804007,Intron,INS,-,GC,,0,2,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,OPTC,26254,1,203469109,203469111,Intron,DEL,CAT,-,,4,4,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,LAX1,54900,1,203743771,203743772,Frame_Shift_Ins,INS,-,A,c.(1159-1161)gagfs,3,12,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,PCNXL2,80003,1,233334624,233334625,Intron,INS,-,A,,6,23,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,MSH6,2956,2,48022939,48022940,Intron,INS,-,C,,2,6,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,KIF5C,3800,2,149630231,149630232,5'Flank,INS,-,AG,,0,4,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,NEB,4703,2,152375444,152375445,Intron,INS,-,T,,3,6,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ANO10,55129,3,43607035,43607037,Intron,DEL,TTT,-,,2,1,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,COL7A1,1294,3,48603165,48603166,Intron,INS,-,AT,,5,31,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TMEM184C,55751,4,148552785,148552786,Intron,INS,-,TC,,5,7,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CLCN3,1182,4,170601331,170601332,Frame_Shift_Del,DEL,AT,-,c.(289-294)aaatgtfs,4,18,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TMEM167A,153339,5,82361034,82361035,Intron,INS,-,G,,2,2,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SYCP2L,221711,6,10906148,10906148,Intron,DEL,A,-,,2,2,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,PSORS1C2,170680,6,31106622,31106623,Intron,INS,-,GA,,2,4,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SLC29A1,2030,6,44197581,44197582,Intron,INS,-,G,,3,29,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ZNF107,51427,7,64169083,64169084,3'UTR,INS,-,CC,,3,6,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,LMTK2,22853,7,97770940,97770940,Intron,DEL,G,-,,1,2,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,7,12,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,MGAM,8972,7,141720908,141720910,Intron,DEL,AAG,-,,3,13,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ABCF2,10061,7,150916068,150916069,Intron,INS,-,G,,1,13,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,FBXO16,157574,8,28286221,28286222,3'UTR,INS,-,AAG,,3,12,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,NRG1,3084,8,32607160,32607160,Intron,DEL,T,-,,5,2,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,RB1CC1,9821,8,53542973,53542973,Intron,DEL,T,-,,6,21,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,OC90,729330,8,133041490,133041491,Intron,INS,-,GG,,2,9,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,IFT74,80173,9,26980434,26980435,Intron,INS,-,TA,,7,12,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,GBA2,57704,9,35749945,35749946,5'Flank,INS,-,CC,,4,2,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TBC1D2,55357,9,101006520,101006521,Intron,INS,-,G,,3,11,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CDC123,8872,10,12277184,12277185,Intron,INS,-,A,,9,20,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ANKRD26,22852,10,27368934,27368934,Intron,DEL,G,-,,5,40,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,GBF1,8729,10,104111515,104111516,Intron,INS,-,T,,1,1,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,JAKMIP3,282973,10,133980447,133980448,Intron,INS,-,AG,,8,14,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,MUC2,4583,11,1089090,1089091,Intron,INS,-,A,,8,21,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,WT1,7490,11,32437899,32437900,Intron,INS,-,A,,3,5,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,GRM5,2915,11,88658757,88658758,Intron,INS,-,A,,3,2,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,RDX,5962,11,110108141,110108142,Intron,INS,-,C,,0,8,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,PTPN6,5777,12,7065167,7065168,Intron,INS,-,T,,2,6,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,BCL2L14,79370,12,12232164,12232165,Intron,INS,-,C,,3,0,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,MGP,4256,12,15038574,15038575,Intron,DEL,GA,-,,6,40,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SLCO1B7,338821,12,21176057,21176058,Intron,INS,-,G,,3,7,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,AQP2,359,12,50348248,50348249,Intron,INS,-,A,,11,33,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,HSP90B1,7184,12,104341113,104341115,In_Frame_Del,DEL,CCT,-,c.(2287-2289)cctdel,5,34,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,PARP4,143,13,25068650,25068650,Intron,DEL,G,-,,3,8,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,TRAV18,28665,14,22470650,22470650,RNA,DEL,G,-,,9,10,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,MIR381HG,378881,14,101513556,101513557,lincRNA,INS,-,T,,8,64,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,C16orf62,57020,16,19638927,19638928,Intron,INS,-,T,,2,4,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,FUS,2521,16,31199560,31199561,Intron,DEL,CC,-,,5,29,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ANKRD11,29123,16,89350559,89350560,Frame_Shift_Ins,INS,-,CC,c.(2389-2391)gaafs,1,24,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,NLRP1,22861,17,5418721,5418723,Intron,DEL,CCC,-,,4,21,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,C17orf80,55028,17,71239328,71239328,Intron,DEL,T,-,,5,17,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,C1QTNF1,114897,17,77039283,77039284,Intron,INS,-,AGCA,,3,16,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,CYP4F8,11283,19,15729137,15729137,RNA,DEL,G,-,,6,38,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,UNC13A,23025,19,17766980,17766985,In_Frame_Del,DEL,AGGAAG,-,c.(988-996)gacttcctg>gag,2,36,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,EHD2,30846,19,48245325,48245328,3'UTR,DEL,TCCG,-,,4,1,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,FUT1,2523,19,49254370,49254371,Frame_Shift_Ins,INS,-,A,c.(166-171)tgcctgfs,1,12,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,Unknown,0,19,55208922,55208923,IGR,INS,-,GCC,,3,6,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,SSC5D,284297,19,56029967,56029968,Frame_Shift_Ins,INS,-,A,c.(4324-4326)cttfs,0,4,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,ZNF17,7565,19,57929189,57929190,Intron,INS,-,G,,6,8,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,EFCAB8,388795,20,31484388,31484389,Intron,INS,-,A,,3,14,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,GART,2618,21,34901058,34901059,Intron,DEL,GT,-,,2,5,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,H1F0,3005,22,38202083,38202088,In_Frame_Del,DEL,CCAGTG,-,c.(532-537)ccagtgdel,4,153,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,RPGR,6103,X,38145198,38145198,Intron,DEL,T,-,,1,4,,
RP-1532_PCProject_0028_T2_v3_Exome_OnPrem,PHF6,84295,X,133548078,133548079,Intron,DEL,GA,-,,4,4,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,Unknown,0,1,1890563,1890563,IGR,SNP,C,A,,4,30,0,106
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PANK4,55229,1,2440355,2440355,Silent,SNP,C,T,c.(2251-2253)gcG>gcA,5,74,1,281
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,UBR4,23352,1,19467348,19467348,Missense_Mutation,SNP,G,T,c.(8527-8529)Ctg>Atg,5,114,0,243
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,KDM1A,23028,1,23346349,23346349,Missense_Mutation,SNP,C,T,c.(259-261)cCt>cTt,6,21,0,50
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,RCC1,1104,1,28859191,28859191,Intron,SNP,C,T,,4,42,0,111
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PTP4A2,8073,1,32379848,32379848,Intron,SNP,C,T,,10,83,0,143
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZMYM6NB,100506144,1,35447601,35447601,Missense_Mutation,SNP,C,T,c.(409-411)Gtg>Atg,4,63,0,110
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,GRIK3,2899,1,37267500,37267500,Silent,SNP,G,A,c.(2710-2712)ggC>ggT,5,19,0,71
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,RPE65,6121,1,68910277,68910277,Silent,SNP,G,A,c.(430-432)taC>taT,6,74,0,314
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,C1orf173,0,1,75102022,75102022,Missense_Mutation,SNP,G,T,c.(544-546)aCt>aAt,4,27,0,115
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ACADM,34,1,76226810,76226810,Missense_Mutation,SNP,C,A,c.(949-951)Caa>Aaa,4,47,1,175
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,GFI1,2672,1,92944256,92944256,Missense_Mutation,SNP,G,T,c.(979-981)Ctg>Atg,4,55,0,170
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TCHHL1,126637,1,152058103,152058103,Silent,SNP,G,T,c.(2053-2055)tcC>tcA,5,58,1,251
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,RAB13,5872,1,153957204,153957204,Nonsense_Mutation,SNP,G,A,c.(178-180)Caa>Taa,5,120,0,213
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SMG5,23381,1,156222813,156222813,Missense_Mutation,SNP,C,T,c.(2557-2559)atG>atA,3,18,0,57
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PAPPA2,60676,1,176759003,176759003,Missense_Mutation,SNP,C,A,c.(4774-4776)Cct>Act,6,119,0,329
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,NR5A2,2494,1,200008850,200008850,Silent,SNP,C,A,c.(127-129)ccC>ccA,5,102,0,262
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ESRRG,2104,1,216880700,216880700,Intron,SNP,C,T,,7,70,0,156
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,LYST,1130,1,235964249,235964249,Missense_Mutation,SNP,A,T,c.(3859-3861)gaT>gaA,5,56,0,159
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,NID1,4811,1,236212127,236212127,Missense_Mutation,SNP,T,C,c.(388-390)Atc>Gtc,5,66,0,204
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SNTG2,54221,2,1263144,1263144,Silent,SNP,G,C,c.(1006-1008)gtG>gtC,3,39,0,195
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,RAD51AP2,729475,2,17698830,17698830,Missense_Mutation,SNP,T,G,c.(853-855)Aaa>Caa,4,28,0,70
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,APOB,338,2,21246392,21246392,Intron,SNP,C,T,,8,46,0,208
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PPP1CB,5500,2,29006844,29006844,Splice_Site,SNP,G,A,c.(592-594)Ggt>Agt,4,42,0,88
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MSH2,4436,2,47702337,47702337,Missense_Mutation,SNP,C,G,c.(1933-1935)Caa>Gaa,6,62,0,160
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,EMX1,2016,2,73143966,73143966,3'UTR,SNP,C,T,,8,78,0,316
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,LMAN2L,81562,2,97370255,97370255,IGR,SNP,C,T,,5,76,1,172
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,LIPT1,51601,2,99771947,99771947,5'UTR,SNP,C,T,,8,69,0,112
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TMEM87B,84910,2,112817564,112817564,Missense_Mutation,SNP,C,T,c.(175-177)cCt>cTt,7,28,0,25
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PSMD14,10213,2,162241978,162241978,Missense_Mutation,SNP,G,T,c.(466-468)Gtt>Ttt,4,32,0,82
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SLC4A10,57282,2,162761387,162761387,Missense_Mutation,SNP,G,C,c.(1717-1719)ttG>ttC,4,24,0,124
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,DLX2,1746,2,172965637,172965637,Missense_Mutation,SNP,G,C,c.(619-621)ttC>ttG,5,147,0,337
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TTN,7273,2,179553836,179553836,Missense_Mutation,SNP,G,A,c.(31087-31089)cCa>cTa,5,25,0,52
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,FAM171B,165215,2,187605149,187605149,Missense_Mutation,SNP,G,A,c.(433-435)Gtg>Atg,4,16,0,98
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ALS2CR11,151254,2,202430480,202430480,Missense_Mutation,SNP,C,G,c.(949-951)Gaa>Caa,4,57,0,100
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,FAM117B,150864,2,203500411,203500411,Silent,SNP,G,T,c.(499-501)gcG>gcT,4,38,0,63
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,BARD1,580,2,215634021,215634021,Missense_Mutation,SNP,C,A,c.(1330-1332)Gtt>Ttt,6,69,0,157
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ABCA12,26154,2,215823046,215823046,Silent,SNP,G,T,c.(6070-6072)ggC>ggA,5,51,0,177
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,Unknown,0,3,6828298,6828298,IGR,SNP,G,T,,5,30,0,103
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,RAD18,56852,3,8983284,8983284,Missense_Mutation,SNP,G,T,c.(469-471)ttC>ttA,7,162,0,266
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,FBLN2,2199,3,13679757,13679757,3'UTR,SNP,C,T,,5,61,0,181
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ACAA1,30,3,38164550,38164550,Nonsense_Mutation,SNP,G,T,c.(1261-1263)taC>taA,4,60,0,201
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ALAS1,211,3,52237908,52237908,Missense_Mutation,SNP,G,T,c.(457-459)Gtg>Ttg,4,24,0,39
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TMPRSS7,344805,3,111769534,111769534,Silent,SNP,G,T,c.(1105-1107)gtG>gtT,5,29,0,75
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PLA1A,51365,3,119348292,119348292,Missense_Mutation,SNP,G,T,c.(1348-1350)Gac>Tac,7,80,1,125
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,KALRN,8997,3,124117640,124117640,Missense_Mutation,SNP,G,A,c.(2260-2262)atG>atA,6,90,0,165
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PLXND1,23129,3,129291710,129291710,Missense_Mutation,SNP,T,A,c.(2911-2913)aAg>aTg,5,68,0,204
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SHOX2,6474,3,157822892,157822892,Intron,SNP,C,A,,7,139,0,229
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TNIK,23043,3,170800104,170800104,Silent,SNP,G,A,c.(3247-3249)atC>atT,4,52,0,169
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ACTL6A,86,3,179298453,179298453,Missense_Mutation,SNP,C,T,c.(793-795)tCg>tTg,4,60,0,91
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MAP6D1,79929,3,183535803,183535803,Missense_Mutation,SNP,G,C,c.(496-498)agC>agG,4,40,0,111
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TMEM41A,90407,3,185214717,185214717,Missense_Mutation,SNP,G,A,c.(172-174)Ctt>Ttt,5,117,0,211
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ATP13A3,79572,3,194159710,194159710,Intron,SNP,A,G,,11,35,0,64
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,AFAP1,60312,4,7870347,7870347,Splice_Site,SNP,A,G,c.e2+1,7,46,0,94
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CPEB2,132864,4,15067816,15067816,Missense_Mutation,SNP,G,T,c.(1582-1584)Gat>Tat,5,61,0,181
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CORIN,10699,4,47644001,47644001,Missense_Mutation,SNP,G,A,c.(2134-2136)Cat>Tat,5,72,0,192
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,KDR,3791,4,55973942,55973942,Missense_Mutation,SNP,C,A,c.(1372-1374)tgG>tgT,8,67,0,215
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,FGF5,2250,4,81196155,81196155,Missense_Mutation,SNP,C,T,c.(448-450)Ctc>Ttc,7,45,0,131
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,POU4F2,5458,4,147561290,147561290,Missense_Mutation,SNP,C,T,c.(559-561)gCg>gTg,9,109,0,254
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PRMT10,0,4,148582055,148582055,Missense_Mutation,SNP,C,T,c.(1087-1089)gGa>gAa,4,54,0,142
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,GPM6A,2823,4,176622825,176622825,Missense_Mutation,SNP,C,T,c.(130-132)tGt>tAt,6,92,0,234
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,DNAH5,1767,5,13886087,13886087,Missense_Mutation,SNP,T,A,c.(2728-2730)aAa>aTa,5,28,0,60
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SLC45A2,51151,5,33947342,33947342,Missense_Mutation,SNP,C,T,c.(1294-1296)Ggt>Agt,5,106,0,279
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CRHBP,1393,5,76259239,76259239,Silent,SNP,C,T,c.(763-765)tcC>tcT,6,64,0,264
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,POU5F2,134187,5,93076728,93076728,Missense_Mutation,SNP,C,A,c.(541-543)cGa>cTa,20,89,0,286
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MCTP1,79772,5,94359809,94359809,Intron,SNP,C,T,,4,61,0,74
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SLC23A1,9963,5,138718913,138718913,Silent,SNP,C,A,c.(28-30)cgG>cgT,4,27,0,63
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PCDHB2,56133,5,140475414,140475414,Missense_Mutation,SNP,C,T,c.(1039-1041)cCg>cTg,4,37,0,152
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,C5orf54,0,5,159820973,159820973,Missense_Mutation,SNP,C,G,c.(1525-1527)Gag>Cag,8,39,0,200
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ATP10B,23120,5,159996536,159996536,Missense_Mutation,SNP,C,T,c.(3904-3906)tGc>tAc,6,78,0,156
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,F12,2161,5,176830375,176830375,Missense_Mutation,SNP,C,T,c.(1411-1413)Gcg>Acg,7,69,0,260
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,COL23A1,91522,5,177677105,177677105,Splice_Site,SNP,C,A,c.(1015-1017)gGc>gTc,4,64,1,177
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,VPS52,6293,6,33232247,33232247,Silent,SNP,T,C,c.(1426-1428)ctA>ctG,11,40,0,105
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,LEMD2,221496,6,33752151,33752151,Nonsense_Mutation,SNP,G,T,c.(829-831)taC>taA,5,47,0,112
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ANKRD6,22881,6,90339066,90339066,Intron,SNP,G,A,,7,82,0,191
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MDN1,23195,6,90504308,90504308,Missense_Mutation,SNP,G,T,c.(541-543)aCc>aAc,6,62,0,185
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MAP3K7,6885,6,91281514,91281514,Missense_Mutation,SNP,C,T,c.(133-135)Gga>Aga,5,60,0,66
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TBC1D32,221322,6,121401449,121401449,IGR,SNP,C,T,,5,21,0,31
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ARHGAP18,93663,6,129950543,129950543,Silent,SNP,G,T,c.(739-741)tcC>tcA,4,56,0,143
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,LPA,4018,6,161012018,161012018,Missense_Mutation,SNP,C,T,c.(3745-3747)Gaa>Aaa,7,65,0,271
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SNX8,29886,7,2309285,2309285,Intron,SNP,A,G,,5,49,0,113
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SDK1,221935,7,4014051,4014051,Missense_Mutation,SNP,G,C,c.(1867-1869)aGg>aCg,5,44,0,160
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,DFNA5,1687,7,24789174,24789174,Intron,SNP,G,A,,4,55,0,131
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,IGFBP3,3486,7,45956977,45956977,Silent,SNP,G,A,c.(463-465)tcC>tcT,5,54,0,97
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZNF727,442319,7,63538330,63538330,Missense_Mutation,SNP,A,T,c.(901-903)aaA>aaT,4,42,0,172
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZNF727,442319,7,63538345,63538345,Silent,SNP,T,C,c.(916-918)caT>caC,4,38,0,168
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TAC1,6863,7,97363032,97363032,Intron,SNP,C,T,,5,38,1,130
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,NRCAM,4897,7,107875034,107875034,Missense_Mutation,SNP,G,C,c.(223-225)Ccc>Gcc,3,20,0,113
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,POT1,25913,7,124488696,124488696,Intron,SNP,G,T,,4,48,0,54
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZC3HAV1,56829,7,138774499,138774499,Silent,SNP,T,C,c.(313-315)ttA>ttG,7,17,0,65
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,EPHA1,2041,7,143092497,143092497,Silent,SNP,C,T,c.(1996-1998)caG>caA,6,86,0,246
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,NUB1,51667,7,151074202,151074202,Missense_Mutation,SNP,C,A,c.(1738-1740)cCa>cAa,5,19,0,57
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TTI2,80185,8,33369727,33369727,Silent,SNP,G,A,c.(403-405)gtC>gtT,6,142,0,296
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,XKR9,389668,8,71595794,71595794,Intron,SNP,C,G,,5,140,0,134
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZFHX4,79776,8,77694438,77694438,Intron,SNP,C,A,,6,77,0,81
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,VPS13B,157680,8,100287481,100287481,Splice_Site,SNP,C,T,c.(2821-2823)tcC>tcT,6,154,0,196
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,BAALC,79870,8,104240216,104240216,Splice_Site,SNP,G,A,c.e4-1,3,25,0,87
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CPSF1,29894,8,145625441,145625441,Nonsense_Mutation,SNP,G,T,c.(970-972)tgC>tgA,4,72,1,288
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,DAPK1,1612,9,90263786,90263786,Missense_Mutation,SNP,C,A,c.(1420-1422)Cag>Aag,7,49,0,151
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,AKNA,80709,9,117124136,117124136,Missense_Mutation,SNP,G,A,c.(1972-1974)Cac>Tac,8,215,0,328
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,AKNA,80709,9,117138614,117138614,Intron,SNP,C,T,,4,36,0,83
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,OR1L4,254973,9,125486280,125486280,Missense_Mutation,SNP,G,T,c.(10-12)aaG>aaT,4,33,0,167
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ARMC3,219681,10,23297757,23297757,Missense_Mutation,SNP,C,T,c.(1942-1944)Cat>Tat,5,27,0,95
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,Unknown,0,10,30998311,30998311,IGR,SNP,C,A,,9,62,0,176
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ANKRD30A,91074,10,37418828,37418828,Silent,SNP,C,T,c.(61-63)Cta>Tta,4,13,0,53
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZNF239,8187,10,44052364,44052364,Silent,SNP,C,T,c.(1162-1164)tcG>tcA,6,56,0,150
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TET1,80312,10,70333686,70333686,Missense_Mutation,SNP,G,T,c.(1591-1593)Gcc>Tcc,5,50,0,191
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,IFIT2,3433,10,91066781,91066781,Silent,SNP,C,T,c.(1066-1068)taC>taT,7,55,0,165
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,KIF11,3832,10,94399550,94399550,Splice_Site,SNP,G,T,c.e17-1,6,19,0,71
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ITPRIP,85450,10,106074598,106074598,Nonsense_Mutation,SNP,G,T,c.(1210-1212)tgC>tgA,4,66,0,234
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TECTB,6975,10,114053821,114053821,Splice_Site,SNP,T,C,c.e6+2,4,46,0,114
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,OR51B5,282763,11,5363867,5363867,Silent,SNP,C,T,c.(886-888)caG>caA,6,18,0,46
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,DNHD1,144132,11,6566566,6566566,Missense_Mutation,SNP,G,A,c.(4396-4398)tGt>tAt,6,61,0,211
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,KCNJ11,3767,11,17408981,17408981,Missense_Mutation,SNP,C,T,c.(658-660)Gta>Ata,4,35,0,159
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,HPS5,11234,11,18322438,18322438,Nonsense_Mutation,SNP,C,A,c.(922-924)Gaa>Taa,6,62,0,163
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,FADS2,9415,11,61607818,61607818,Nonsense_Mutation,SNP,G,T,c.(331-333)Gag>Tag,5,44,0,216
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PLCB3,5331,11,64027653,64027653,Missense_Mutation,SNP,G,C,c.(1678-1680)Gaa>Caa,3,36,0,154
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CCS,9973,11,66366660,66366660,Silent,SNP,G,A,c.(184-186)gtG>gtA,6,59,0,113
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,DHCR7,1717,11,71155157,71155157,Missense_Mutation,SNP,A,G,c.(202-204)cTg>cCg,5,60,0,140
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,Unknown,0,11,87037853,87037853,IGR,SNP,C,A,,3,25,0,67
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CEP57,9702,11,95546658,95546658,Missense_Mutation,SNP,G,C,c.(409-411)Gaa>Caa,5,46,0,149
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ATM,472,11,108196028,108196028,Intron,SNP,G,A,,4,39,0,96
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SDHD,6392,11,111963846,111963846,Intron,SNP,C,A,,4,57,0,102
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,APLP2,334,11,129991564,129991564,Missense_Mutation,SNP,G,T,c.(571-573)gGg>gTg,5,45,0,98
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,NCAPD3,23310,11,134073681,134073681,Missense_Mutation,SNP,G,T,c.(1336-1338)Cag>Aag,5,96,0,257
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,GLB1L3,112937,11,134188802,134188802,Missense_Mutation,SNP,C,T,c.(1927-1929)tCa>tTa,5,74,1,116
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ANO6,196527,12,45742387,45742387,Silent,SNP,C,A,c.(718-720)atC>atA,5,113,0,238
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,LIMA1,51474,12,50589646,50589646,Missense_Mutation,SNP,C,T,c.(997-999)Gca>Aca,6,109,0,115
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,FAM186A,121006,12,50745387,50745387,Nonsense_Mutation,SNP,G,T,c.(5227-5229)tCa>tAa,5,22,0,70
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ESPL1,9700,12,53670485,53670485,Silent,SNP,G,C,c.(1780-1782)gcG>gcC,5,67,0,227
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,AAAS,8086,12,53708194,53708194,Nonsense_Mutation,SNP,G,A,c.(577-579)Cag>Tag,5,119,0,305
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PA2G4,5036,12,56504344,56504344,Splice_Site,SNP,C,A,c.(709-711)gCc>gAc,4,35,0,91
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PWP1,11137,12,108098534,108098534,Intron,SNP,C,T,,10,36,0,107
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,XPO4,64328,13,21381749,21381749,Missense_Mutation,SNP,T,A,c.(1663-1665)cAg>cTg,3,21,0,76
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,RNF17,56163,13,25368299,25368299,Intron,SNP,G,C,,4,19,0,68
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SLC46A3,283537,13,29287421,29287421,Silent,SNP,A,G,c.(454-456)ttT>ttC,10,34,0,142
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TRPC4,7223,13,38211407,38211407,Missense_Mutation,SNP,G,C,c.(2566-2568)gCt>gGt,4,46,0,152
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TSC22D1,8848,13,45148356,45148356,Missense_Mutation,SNP,G,A,c.(1855-1857)Cca>Tca,4,33,0,105
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,RAB2B,84932,14,21944806,21944806,Intron,SNP,T,C,,6,22,0,50
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,NPAS3,64067,14,34269749,34269749,Missense_Mutation,SNP,C,G,c.(2236-2238)Ccg>Gcg,4,26,0,24
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,NRXN3,9369,14,79454435,79454435,Silent,SNP,C,T,c.(2092-2094)ttC>ttT,6,46,0,195
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CCNK,8812,14,99969079,99969079,Missense_Mutation,SNP,C,T,c.(769-771)Ctt>Ttt,6,83,0,171
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CCNK,8812,14,99969084,99969084,Silent,SNP,C,T,c.(772-774)taC>taT,6,84,0,171
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,RASGRP1,10125,15,38818503,38818503,Missense_Mutation,SNP,G,T,c.(322-324)aCc>aAc,4,42,0,180
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,UBR1,197131,15,43352275,43352275,Missense_Mutation,SNP,C,A,c.(835-837)tGc>tTc,16,94,1,299
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MYO5A,4644,15,52662491,52662491,Missense_Mutation,SNP,C,T,c.(2941-2943)Gcc>Acc,6,140,0,369
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SLTM,79811,15,59182590,59182590,Missense_Mutation,SNP,G,A,c.(1969-1971)Cgg>Tgg,6,135,0,201
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,HERC1,8925,15,64010870,64010870,Missense_Mutation,SNP,G,A,c.(3880-3882)tCa>tTa,4,24,0,53
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CSNK1G1,53944,15,64458218,64458218,3'UTR,SNP,C,T,,4,51,0,63
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,IGDCC4,57722,15,65677310,65677310,Silent,SNP,C,T,c.(3322-3324)ctG>ctA,5,44,0,124
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,THSD4,79875,15,72039259,72039259,Missense_Mutation,SNP,T,A,c.(2119-2121)Tac>Aac,11,183,0,385
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,GRAMD2,196996,15,72454678,72454678,Missense_Mutation,SNP,G,A,c.(997-999)Cgt>Tgt,5,52,0,128
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ACAN,176,15,89398200,89398200,Missense_Mutation,SNP,C,A,c.(2383-2385)cCc>cAc,3,4,0,24
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,GLYR1,84656,16,4861223,4861223,Missense_Mutation,SNP,G,A,c.(1534-1536)gCg>gTg,4,66,0,175
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,APOBR,55911,16,28506803,28506803,Silent,SNP,G,T,c.(439-441)ggG>ggT,7,36,0,89
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,FUS,2521,16,31195701,31195701,Silent,SNP,T,G,c.(505-507)ggT>ggG,7,181,1,379
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ARMC5,79798,16,31469750,31469750,5'Flank,SNP,C,T,,4,59,0,121
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ANKRD26P1,124149,16,46513330,46513330,RNA,SNP,G,C,,4,7,0,70
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CENPT,80152,16,67863735,67863735,Silent,SNP,G,T,c.(1117-1119)tcC>tcA,9,50,0,210
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CDH13,1012,16,83816926,83816926,Silent,SNP,G,T,c.(1981-1983)gtG>gtT,5,83,0,220
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,GALNS,2588,16,88891223,88891223,Missense_Mutation,SNP,G,T,c.(1192-1194)caC>caA,5,94,0,349
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SCARF1,8578,17,1540088,1540088,Silent,SNP,G,T,c.(1546-1548)ggC>ggA,4,68,0,133
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZZEF1,23140,17,3975902,3975902,Splice_Site,SNP,C,T,c.(3832-3834)gaG>gaA,3,25,0,69
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CTDNEP1,23399,17,7147870,7147870,Splice_Site,SNP,C,A,c.(673-675)aGg>aTg,5,98,0,217
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MYO15A,51168,17,18034109,18034109,Intron,SNP,G,T,,4,64,0,78
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SPAG5,10615,17,26906474,26906474,Missense_Mutation,SNP,C,T,c.(2914-2916)Gaa>Aaa,4,33,0,88
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,KRT25,147183,17,38906736,38906736,Silent,SNP,G,A,c.(1069-1071)acC>acT,23,147,0,402
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,WIPI1,55062,17,66432600,66432600,Missense_Mutation,SNP,T,A,c.(451-453)Aac>Tac,4,57,0,135
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TTYH2,94015,17,72218746,72218746,Missense_Mutation,SNP,C,G,c.(250-252)caC>caG,3,40,0,119
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,RNF213,57674,17,78348266,78348266,Silent,SNP,G,A,c.(12949-12951)cgG>cgA,5,114,0,270
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PIEZO2,63895,18,10787064,10787064,Missense_Mutation,SNP,C,A,c.(2287-2289)tGg>tTg,8,48,0,127
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PIEZO2,63895,18,10855509,10855509,Silent,SNP,C,A,c.(757-759)ctG>ctT,6,75,0,205
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CCDC178,374864,18,30908092,30908092,Intron,SNP,A,G,,5,41,0,17
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZNF236,7776,18,74631790,74631790,Silent,SNP,T,G,c.(3325-3327)cgT>cgG,5,82,0,248
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,C19orf77,0,19,3474963,3474963,Missense_Mutation,SNP,C,G,c.(271-273)Gag>Cag,6,47,0,135
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,EMR4P,326342,19,6988818,6988818,RNA,SNP,G,A,,5,32,0,110
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,FBN3,84467,19,8200960,8200960,Missense_Mutation,SNP,C,A,c.(1474-1476)gaG>gaT,5,50,1,156
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZNF729,100287226,19,22498930,22498930,Missense_Mutation,SNP,C,G,c.(2710-2712)gCa>gGa,4,40,1,212
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CTC-457E21.9,0,19,22868437,22868437,RNA,SNP,A,G,,4,56,0,251
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,HCST,10870,19,36394674,36394674,Splice_Site,SNP,G,T,c.(109-111)gGc>gTc,5,65,0,209
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CEACAM5,1048,19,42225029,42225029,Silent,SNP,T,C,c.(1957-1959)taT>taC,5,68,0,271
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,KDELR1,10945,19,48893690,48893690,Silent,SNP,C,T,c.(181-183)acG>acA,5,42,1,81
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,KCNC3,3748,19,50832334,50832334,Silent,SNP,C,A,c.(4-6)ctG>ctT,4,38,0,38
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZNF615,284370,19,52497556,52497556,Missense_Mutation,SNP,T,C,c.(772-774)aAa>aGa,4,62,0,183
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZNF880,400713,19,52876378,52876378,Missense_Mutation,SNP,C,A,c.(25-27)ttC>ttA,6,78,0,211
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZNF880,400713,19,52887136,52887136,Silent,SNP,C,T,c.(301-303)aaC>aaT,7,8,0,55
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,GINS1,9837,20,25400344,25400344,Intron,SNP,G,C,,3,8,0,12
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TTLL9,164395,20,30486359,30486359,Missense_Mutation,SNP,A,G,c.(196-198)gAa>gGa,6,50,0,144
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,EPB41L1,2036,20,34765909,34765909,Silent,SNP,C,G,c.(376-378)gtC>gtG,5,96,0,309
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SLC12A5,57468,20,44684878,44684878,Silent,SNP,G,A,c.(2944-2946)acG>acA,5,72,0,163
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,GMEB2,26205,20,62223390,62223390,Missense_Mutation,SNP,C,T,c.(937-939)Gcc>Acc,3,16,0,65
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,LIME1,54923,20,62369747,62369747,Silent,SNP,C,T,c.(478-480)gcC>gcT,4,18,0,93
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,JAM2,58494,21,27090072,27090072,IGR,SNP,C,T,,4,51,0,146
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,LCA5L,150082,21,40800249,40800249,Silent,SNP,G,T,c.(169-171)tcC>tcA,9,67,0,158
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ASCC2,84164,22,30185092,30185092,Silent,SNP,C,T,c.(2182-2184)agG>agA,6,136,0,315
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PLA2G6,8398,22,38540959,38540959,Intron,SNP,C,T,,4,38,0,78
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,NCAPH2,29781,22,50961519,50961519,Missense_Mutation,SNP,G,C,c.(1600-1602)tGg>tCg,6,20,0,86
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,FRMPD4,9758,X,12720028,12720028,Silent,SNP,G,C,c.(967-969)ccG>ccC,5,51,0,89
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,FRMPD4,9758,X,12720037,12720037,Missense_Mutation,SNP,A,C,c.(976-978)aaA>aaC,5,54,0,103
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ARX,170302,X,25031276,25031276,Missense_Mutation,SNP,G,T,c.(835-837)gCc>gAc,9,25,0,98
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MAGEB5,347541,X,26235633,26235633,Missense_Mutation,SNP,C,A,c.(214-216)cCa>cAa,4,13,0,64
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PRDM16,63976,1,3321201,3321202,Intron,INS,-,C,,3,7,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CAP1,10487,1,40533370,40533370,Frame_Shift_Del,DEL,G,-,c.(787-789)cagfs,8,19,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,FOXJ3,22887,1,42655097,42655098,Intron,INS,-,T,,5,33,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,Unknown,0,1,50871510,50871512,IGR,DEL,GCT,-,,4,31,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MYSM1,114803,1,59142594,59142600,Splice_Site,DEL,TTACCAC,-,c.(1387-1392)tgtggt>tt,3,63,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ANGPTL3,27329,1,63063516,63063517,Frame_Shift_Ins,INS,-,T,c.(280-282)gaafs,3,11,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ALG6,29929,1,63870334,63870335,Intron,DEL,TT,-,,3,3,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,NBPF9,400818,1,144816578,144816578,De_novo_Start_OutOfFrame,DEL,T,-,,4,17,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PDE4DIP,9659,1,144912051,144912055,Intron,DEL,ATTAA,-,,4,20,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SETDB1,9869,1,150902613,150902614,Intron,INS,-,G,,5,21,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,HMCN1,83872,1,186105858,186105858,Frame_Shift_Del,DEL,C,-,c.(13369-13371)atcfs,9,29,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,F13B,2165,1,197031900,197031902,Intron,DEL,CCG,-,,2,16,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,KCTD3,51133,1,215792484,215792485,Intron,INS,-,A,,6,11,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ASXL2,55252,2,25982376,25982376,Frame_Shift_Del,DEL,A,-,c.(913-915)ttafs,5,31,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SLC3A1,6519,2,44547724,44547725,Frame_Shift_Ins,INS,-,C,c.(2005-2007)tccfs,5,25,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CCDC88A,55704,2,55530193,55530194,Intron,INS,-,T,,4,31,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ETAA1,54465,2,67631954,67631955,Frame_Shift_Ins,INS,-,T,c.(2140-2142)aagfs,5,31,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MPHOSPH10,10199,2,71360637,71360637,Frame_Shift_Del,DEL,T,-,c.(697-699)gatfs,5,9,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CYP27C1,339761,2,127961152,127961153,Intron,INS,-,G,,3,21,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,COBLL1,22837,2,165586370,165586371,Intron,INS,-,C,,3,4,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SCN1A,6323,2,166904077,166904078,Intron,INS,-,T,,3,18,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SCN9A,6335,2,167099083,167099084,Frame_Shift_Del,DEL,AG,-,c.(3553-3558)tgctacfs,3,16,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SCN9A,6335,2,167143021,167143021,Frame_Shift_Del,DEL,C,-,c.(1426-1428)agafs,3,19,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,FSIP2,401024,2,186666343,186666345,In_Frame_Del,DEL,TCA,-,c.(12310-12312)tcadel,3,21,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,C2orf69,205327,2,200790092,200790092,Frame_Shift_Del,DEL,C,-,c.(640-642)tccfs,5,32,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TMEM237,65062,2,202497958,202497959,Intron,INS,-,T,,3,10,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MPP4,58538,2,202547537,202547538,Intron,DEL,GC,-,,7,23,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CPS1,1373,2,211527779,211527779,Intron,DEL,T,-,,3,21,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,NCL,4691,2,232323880,232323880,Intron,DEL,C,-,,4,3,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,Unknown,0,3,11924514,11924515,IGR,INS,-,C,,3,6,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SYN2,6854,3,12224777,12224778,RNA,DEL,GT,-,,3,16,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ROBO2,6092,3,77666591,77666591,Intron,DEL,G,-,,3,11,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,GRAMD1C,54762,3,113622972,113622973,Intron,INS,-,C,,4,7,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,RABL3,285282,3,120409352,120409353,Intron,INS,-,C,,4,25,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,HCLS1,3059,3,121355235,121355236,Intron,INS,-,T,,3,20,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,GOLGB1,2804,3,121441075,121441076,Intron,INS,-,T,,9,19,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,NEK11,79858,3,130962214,130962215,Intron,INS,-,C,,4,12,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ATR,545,3,142185141,142185142,Intron,DEL,AT,-,,4,30,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MLF1,4291,3,158310197,158310198,Intron,INS,-,CA,,3,8,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,WDR49,151790,3,167339374,167339375,Intron,INS,-,T,,4,30,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ATP13A5,344905,3,193023518,193023519,Intron,INS,-,A,,6,19,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,HTT,3064,4,3179136,3179138,Intron,DEL,AGA,-,,4,24,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,Unknown,0,4,63683081,63683082,IGR,DEL,AA,-,,4,27,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,GC,2638,4,72607639,72607640,Intron,INS,-,G,,4,20,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,IBSP,3381,4,88727271,88727272,Splice_Site,DEL,TA,-,c.e5-1,4,31,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,EXOSC9,5393,4,122732873,122732875,Intron,DEL,AAA,-,,0,6,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ADAD1,132612,4,123329168,123329169,In_Frame_Ins,INS,-,TGA,c.(829-834)gcaaga>gcTGAaaga,4,13,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SCLT1,132320,4,129924900,129924901,Frame_Shift_Del,DEL,TT,-,c.(421-423)aatfs,4,32,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,INPP4B,8821,4,143114248,143114249,Frame_Shift_Ins,INS,-,G,c.(1171-1173)gaafs,3,19,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,KIAA0922,23240,4,154533675,154533675,Intron,DEL,A,-,,3,0,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PDGFC,56034,4,157771399,157771400,Frame_Shift_Ins,INS,-,C,c.(286-288)cttfs,6,11,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,FAM134B,54463,5,16478888,16478889,Intron,INS,-,TC,,3,12,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PRLR,5618,5,35084645,35084646,Frame_Shift_Ins,INS,-,C,c.(298-300)atcfs,6,36,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CENPK,64105,5,64857376,64857377,5'UTR,INS,-,C,,3,18,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,NLN,57486,5,65058768,65058769,Intron,INS,-,C,,5,14,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZFYVE16,9765,5,79734808,79734808,Frame_Shift_Del,DEL,T,-,c.(2302-2304)catfs,3,12,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TMEM167A,153339,5,82361034,82361035,Intron,INS,-,G,,5,6,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TTC37,9652,5,94872419,94872420,Intron,INS,-,C,,3,11,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,RIOK2,55781,5,96503204,96503204,Frame_Shift_Del,DEL,A,-,c.(1363-1365)ttgfs,11,45,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CSNK1G3,1456,5,122911429,122911430,Frame_Shift_Ins,INS,-,T,c.(445-447)cgcfs,4,32,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TXNDC15,79770,5,134232190,134232190,Intron,DEL,C,-,,3,24,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ANKHD1,54882,5,139886345,139886346,Intron,INS,-,G,,3,22,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SPINK5,11005,5,147468242,147468243,Intron,INS,-,A,,4,17,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,GPLD1,2822,6,24467252,24467252,Intron,DEL,C,-,,3,10,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,LRRC16A,55604,6,25466077,25466077,Intron,DEL,G,-,,4,25,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,DST,667,6,56513350,56513351,Intron,INS,-,A,,5,15,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PHF3,23469,6,64413344,64413344,Intron,DEL,T,-,,3,8,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CD109,135228,6,74524695,74524696,Intron,INS,-,TTC,,3,6,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ME1,4199,6,84117523,84117526,Frame_Shift_Del,DEL,ACTA,-,c.(172-177)gtagtafs,9,33,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MDN1,23195,6,90459483,90459484,Intron,DEL,AA,-,,5,16,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MANEA,79694,6,96034326,96034327,Frame_Shift_Ins,INS,-,C,c.(10-15)tttcggfs,4,10,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,HACE1,57531,6,105219359,105219360,Intron,INS,-,T,,4,11,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ROS1,6098,6,117649924,117649925,Intron,INS,-,T,,5,38,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TBC1D32,221322,6,121605019,121605023,Frame_Shift_Del,DEL,GGTAA,-,c.(1405-1410)tttaccfs,3,61,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,IQCE,23288,7,2641012,2641013,Intron,DEL,CA,-,,7,38,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,GARS,2617,7,30643340,30643342,Intron,DEL,GCA,-,,8,10,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,AKAP9,10142,7,91652434,91652435,Intron,INS,-,G,,2,10,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PON3,5446,7,94996565,94996565,Intron,DEL,C,-,,4,1,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,AASS,10157,7,121716755,121716756,Intron,INS,-,A,,3,15,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MEST,4232,7,130140292,130140294,Intron,DEL,TTC,-,,3,24,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ADAM28,10863,8,24197098,24197099,Intron,INS,-,C,,3,19,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PPP2CB,5516,8,30643584,30643585,3'UTR,INS,-,T,,4,17,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ADHFE1,137872,8,67380608,67380609,3'UTR,INS,-,G,,5,34,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CSMD3,114788,8,113694829,113694830,Frame_Shift_Ins,INS,-,T,c.(2518-2520)ccafs,4,31,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TEK,7010,9,27183395,27183396,Intron,INS,-,C,,3,11,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ASPN,54829,9,95219580,95219581,Frame_Shift_Ins,INS,-,C,c.(1132-1134)tttfs,5,26,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,RNF20,56254,9,104324107,104324107,Intron,DEL,A,-,,7,21,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PTPLA,9200,10,17636326,17636327,Frame_Shift_Ins,INS,-,TACC,c.(661-663)atafs,3,15,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,BTAF1,9044,10,93741567,93741568,Intron,INS,-,GAA,,3,14,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,IDE,3416,10,94274684,94274685,Frame_Shift_Del,DEL,TA,-,c.(775-777)ttafs,3,20,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ADAM12,8038,10,127967568,127967569,Intron,INS,-,G,,3,15,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,DOCK1,1793,10,128830037,128830038,Intron,INS,-,A,,3,12,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,KIAA1467,57613,12,13197343,13197351,In_Frame_Del,DEL,GACCGTGCT,-,c.(4-15)gcgaccgtgctg>gcg,12,157,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,KCNJ8,3764,12,21919634,21919634,Intron,DEL,A,-,,3,7,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,KRAS,3845,12,25378749,25378750,Intron,INS,-,TG,,3,17,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PPFIBP1,8496,12,27808056,27808056,Intron,DEL,C,-,,5,26,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,C12orf55,0,12,97043811,97043811,Frame_Shift_Del,DEL,T,-,c.(4831-4833)gatfs,7,19,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,NBEA,26960,13,35770405,35770406,Frame_Shift_Ins,INS,-,A,c.(5332-5334)gctfs,3,14,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,LCP1,3936,13,46717376,46717377,Intron,INS,-,C,,3,19,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TMCO3,55002,13,114152858,114152859,Intron,INS,-,CT,,4,26,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TRAV39,28642,14,22772127,22772142,RNA,DEL,TTCTGAAATGTTCTCT,-,,4,16,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,HECTD1,25831,14,31582643,31582644,Frame_Shift_Ins,INS,-,G,c.(5902-5904)attfs,11,60,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,Unknown,0,14,52755885,52755886,IGR,INS,-,A,,9,8,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ARID4A,5926,14,58796980,58796981,Intron,INS,-,TC,,4,9,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,PRKCH,5583,14,61912489,61912490,Intron,INS,-,G,,5,26,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MLH3,27030,14,75497157,75497158,Intron,INS,-,A,,3,25,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CATSPERB,79820,14,92105546,92105547,In_Frame_Ins,INS,-,CAT,c.(1480-1482)aca>aATGca,6,45,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,OCA2,4948,15,28273278,28273279,Intron,INS,-,A,,3,20,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,UBR1,197131,15,43322111,43322112,Intron,INS,-,C,,3,27,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,UBR1,197131,15,43330297,43330298,Intron,DEL,CT,-,,3,21,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,FAM63B,54629,15,59088365,59088366,Intron,INS,-,T,,4,15,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,LACTB,114294,15,63433547,63433548,Frame_Shift_Ins,INS,-,A,c.(1186-1191)gctggtfs,3,18,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CREBBP,1387,16,3808141,3808142,Intron,INS,-,T,,3,16,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ERI2,112479,16,20809927,20809928,Frame_Shift_Ins,INS,-,C,c.(1192-1197)actctgfs,4,30,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,COG7,91949,16,23446150,23446151,Intron,INS,-,G,,3,15,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,Unknown,0,16,34331761,34331762,IGR,INS,-,A,,4,33,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,C16orf97,388276,16,52060381,52060382,Intron,INS,-,G,,3,23,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,NAE1,8883,16,66843099,66843100,Intron,INS,-,T,,3,0,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZNF19,7567,16,71509609,71509610,Frame_Shift_Ins,INS,-,T,c.(838-843)aaagctfs,5,20,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZZEF1,23140,17,3970558,3970559,Intron,INS,-,TA,,11,28,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,TP53,7157,17,7577502,7577503,Frame_Shift_Del,DEL,GA,-,c.(778-780)tccfs,6,35,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CPD,1362,17,28773004,28773004,Frame_Shift_Del,DEL,G,-,c.(2839-2841)gtafs,3,20,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,SLFN13,146857,17,33772214,33772215,Frame_Shift_Ins,INS,-,C,c.(484-486)aaafs,4,21,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,EFCAB13,124989,17,45422290,45422290,Intron,DEL,G,-,,3,8,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,MED13,9969,17,60062324,60062325,Intron,INS,-,A,,3,19,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,EPG5,57724,18,43532551,43532552,Frame_Shift_Del,DEL,AT,-,c.(1066-1068)atgfs,13,55,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,WDR7,23335,18,54362209,54362210,Frame_Shift_Del,DEL,GC,-,c.(1135-1140)ttgcaafs,5,18,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZNF57,126295,19,2918357,2918357,3'UTR,DEL,C,-,,3,0,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,OR7G1,125962,19,9225653,9225654,In_Frame_Ins,INS,-,CTG,c.(784-789)tctgct>tctCAGgct,5,33,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZNF560,147741,19,9578829,9578830,Frame_Shift_Ins,INS,-,GA,c.(793-795)tctfs,3,19,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZNF888,388559,19,53421071,53421072,lincRNA,INS,-,G,,3,18,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,ZNF17,7565,19,57929189,57929190,Intron,INS,-,G,,3,7,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,RCAN1,1827,21,35895847,35895847,Frame_Shift_Del,DEL,T,-,c.(412-414)ttafs,9,27,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,CCDC157,550631,22,30771582,30771584,In_Frame_Del,DEL,AGG,-,c.(1786-1791)caggag>cag,6,28,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,KLHL4,56062,X,86880686,86880687,Frame_Shift_Ins,INS,-,T,c.(1213-1218)aagtatfs,3,23,,
RP-1532_PCProject_0031_T1_v2_Exome_OnPrem,Unknown,0,Y,10029257,10029257,IGR,DEL,C,-,,3,4,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,Unknown,0,1,1855294,1855294,IGR,SNP,G,C,,6,222,0,185
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,WRAP73,49856,1,3550050,3550050,Silent,SNP,G,T,c.(832-834)gcC>gcA,42,54,0,88
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,UBR4,23352,1,19404522,19404522,Missense_Mutation,SNP,C,T,c.(15271-15273)cGt>cAt,11,143,0,211
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,RPL11,6135,1,24021217,24021217,Missense_Mutation,SNP,A,T,c.(331-333)gAa>gTa,25,100,0,352
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,SPAG17,200162,1,118548216,118548216,Missense_Mutation,SNP,G,T,c.(4597-4599)Cca>Aca,3,6,0,44
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CCT3,7203,1,156306924,156306924,Intron,SNP,G,A,,5,136,0,122
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CACNA1E,777,1,181764121,181764121,Missense_Mutation,SNP,G,A,c.(6148-6150)cGt>cAt,11,41,0,111
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CACNA1S,779,1,201029801,201029801,Silent,SNP,G,T,c.(3397-3399)atC>atA,28,69,0,183
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,RAB3GAP2,25782,1,220327380,220327380,Missense_Mutation,SNP,T,C,c.(3574-3576)aAa>aGa,18,41,0,148
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CCDC121,79635,2,27850255,27850255,Missense_Mutation,SNP,T,C,c.(412-414)Aag>Gag,9,26,0,151
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,SMEK2,57223,2,55844379,55844379,Nonsense_Mutation,SNP,C,A,c.(43-45)Gaa>Taa,6,108,0,77
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,KDM3A,55818,2,86707395,86707395,Missense_Mutation,SNP,G,C,c.(2422-2424)Ggc>Cgc,76,167,0,146
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,FMNL2,114793,2,153405556,153405556,Nonsense_Mutation,SNP,G,T,c.(304-306)Gaa>Taa,12,35,0,106
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,SCN2A,6326,2,166231188,166231188,Intron,SNP,G,A,,10,40,0,146
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,PLD1,5337,3,171379897,171379897,Missense_Mutation,SNP,C,T,c.(2293-2295)Gct>Act,9,37,0,102
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,PRLR,5618,5,35065338,35065338,Silent,SNP,T,C,c.(1720-1722)gaA>gaG,39,87,0,230
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CSF1R,1436,5,149459861,149459861,Missense_Mutation,SNP,C,T,c.(346-348)Gtc>Atc,34,80,0,121
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ADAM19,8728,5,156999277,156999277,Intron,SNP,C,G,,5,82,0,90
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CLTB,1212,5,175843318,175843318,Missense_Mutation,SNP,G,T,c.(46-48)cCg>cAg,66,229,0,165
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,FAM193B,54540,5,176950231,176950231,Intron,SNP,T,C,,5,47,0,35
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,IER3,8870,6,30712234,30712234,Missense_Mutation,SNP,G,A,c.(61-63)cCc>cTc,6,15,0,29
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,DAAM2,23500,6,39873299,39873299,IGR,SNP,T,A,,80,171,0,519
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CUL9,23113,6,43152443,43152443,Missense_Mutation,SNP,A,G,c.(394-396)gAa>gGa,36,64,0,96
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,KHDRBS2,202559,6,62604661,62604661,Missense_Mutation,SNP,C,T,c.(688-690)cGt>cAt,16,30,0,69
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,GRM1,2911,6,146755453,146755453,Missense_Mutation,SNP,G,A,c.(3106-3108)Gga>Aga,8,11,0,54
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,MMD2,221938,7,4949663,4949663,Intron,SNP,G,A,,24,60,0,82
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ANLN,54443,7,36438816,36438816,Missense_Mutation,SNP,G,T,c.(301-303)Gtg>Ttg,6,210,1,198
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ABCA13,154664,7,48450175,48450175,Silent,SNP,C,T,c.(12127-12129)cgC>cgT,36,156,0,158
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,METTL2B,55798,7,128142728,128142728,3'UTR,SNP,A,G,,6,130,0,75
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CALD1,800,7,134653334,134653334,3'UTR,SNP,G,A,,8,42,0,62
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,REPIN1,29803,7,150068335,150068335,Missense_Mutation,SNP,T,G,c.(4-6)cTg>cGg,15,57,0,74
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,AGAP3,116988,7,150784041,150784041,Silent,SNP,C,A,c.(211-213)gcC>gcA,6,289,1,181
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ZNF462,58499,9,109686982,109686982,Missense_Mutation,SNP,G,A,c.(787-789)atG>atA,33,68,0,156
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,PTGS1,5742,9,125148842,125148842,Missense_Mutation,SNP,T,A,c.(1126-1128)aTt>aAt,88,170,0,301
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,FAM73B,84895,9,131813632,131813632,Intron,SNP,G,C,,4,37,0,17
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ZMYND11,10771,10,292863,292863,Silent,SNP,C,A,c.(1108-1110)Cga>Aga,5,121,0,249
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,WDFY4,57705,10,49951501,49951501,Silent,SNP,G,A,c.(2365-2367)agG>agA,24,102,0,166
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ASCC1,51008,10,73862658,73862658,Missense_Mutation,SNP,G,A,c.(1108-1110)cCg>cTg,4,32,0,59
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,BTAF1,9044,10,93768017,93768017,Silent,SNP,C,A,c.(3796-3798)ctC>ctA,5,5,0,34
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CTC-497E21.3,0,11,13032512,13032512,lincRNA,SNP,C,T,,66,151,1,225
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,PGR,5241,11,100933208,100933208,Missense_Mutation,SNP,A,G,c.(2182-2184)Tca>Cca,6,25,0,137
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,PIK3C2G,5288,12,18534717,18534717,Missense_Mutation,SNP,C,A,c.(1774-1776)tCt>tAt,4,45,0,102
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,C2CD5,9847,12,22697085,22697085,5'UTR,SNP,G,C,,63,152,0,170
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,DNM1L,10059,12,32883940,32883940,Intron,SNP,C,T,,17,62,0,255
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,MUC19,283463,12,40951326,40951326,Intron,SNP,C,A,,8,21,0,132
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,SLC48A1,55652,12,48174381,48174381,3'UTR,SNP,A,G,,4,64,0,89
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,PTPN11,5781,12,112895130,112895130,Intron,SNP,A,T,,3,8,0,25
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,GPR133,283383,12,131476822,131476822,Missense_Mutation,SNP,C,T,c.(850-852)aCa>aTa,13,42,0,137
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ANKLE2,23141,12,133310619,133310619,Intron,SNP,C,T,,6,133,1,185
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ZNF268,10795,12,133780275,133780275,Missense_Mutation,SNP,A,G,c.(2002-2004)tAt>tGt,20,42,0,170
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,MYH6,4624,14,23853678,23853678,Silent,SNP,C,T,c.(5536-5538)gaG>gaA,59,159,0,200
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,BCL11B,64919,14,99641241,99641241,Silent,SNP,G,A,c.(1930-1932)gaC>gaT,8,10,0,14
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,Unknown,0,16,34318607,34318607,IGR,SNP,C,T,,28,75,0,214
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ADCY7,113,16,50332820,50332820,Silent,SNP,C,T,c.(952-954)aaC>aaT,25,64,0,71
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CDH8,1006,16,61761039,61761039,Missense_Mutation,SNP,C,T,c.(1495-1497)Gaa>Aaa,10,22,0,122
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ZFHX3,463,16,72827438,72827438,Missense_Mutation,SNP,T,C,c.(9142-9144)cAt>cGt,40,56,0,246
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,DNAAF1,123872,16,84199553,84199553,Missense_Mutation,SNP,G,A,c.(1027-1029)aGa>aAa,8,355,0,286
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,MPDU1,9526,17,7491099,7491099,3'UTR,SNP,C,T,,61,163,0,424
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CHD3,1107,17,7798464,7798464,Missense_Mutation,SNP,G,T,c.(1498-1500)tGc>tTc,25,23,0,86
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CHD3,1107,17,7812072,7812072,Missense_Mutation,SNP,C,A,c.(5317-5319)aaC>aaA,5,84,0,180
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,MYH8,4626,17,10297611,10297611,Missense_Mutation,SNP,C,A,c.(5119-5121)caG>caT,107,226,0,374
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,SPPL2C,162540,17,43922452,43922452,Silent,SNP,C,T,c.(178-180)ccC>ccT,6,59,0,69
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,SPOP,8405,17,47696426,47696426,Missense_Mutation,SNP,A,C,c.(397-399)Ttc>Gtc,9,27,0,96
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,EPN3,55040,17,48618176,48618176,Silent,SNP,C,T,c.(1000-1002)gcC>gcT,15,36,1,42
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,NDC80,10403,18,2587880,2587880,Missense_Mutation,SNP,G,A,c.(721-723)Gac>Aac,12,43,0,125
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,UHRF1,29128,19,4932897,4932897,RNA,SNP,G,T,,63,142,0,192
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CATSPERD,257062,19,5772262,5772262,Intron,SNP,A,G,,4,26,0,23
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,MUC16,94025,19,9060172,9060172,Missense_Mutation,SNP,C,A,c.(27274-27276)Ggt>Tgt,9,16,0,104
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,MUC16,94025,19,9066056,9066056,Silent,SNP,G,A,c.(21388-21390)ctC>ctT,4,15,0,59
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,DNM2,1785,19,10928165,10928165,Intron,SNP,G,T,,11,22,1,35
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ZNF729,100287226,19,22498774,22498774,Missense_Mutation,SNP,A,G,c.(2554-2556)tAc>tGc,5,56,1,239
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,U2AF1L4,199746,19,36234578,36234578,Intron,SNP,G,A,,6,50,1,55
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,PRKD2,25865,19,47197271,47197271,Silent,SNP,G,A,c.(1435-1437)ggC>ggT,72,223,0,236
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ZNF541,84215,19,48048957,48048957,Missense_Mutation,SNP,G,A,c.(829-831)Cgc>Tgc,33,98,0,125
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ADRA1D,146,20,4228494,4228494,Splice_Site,SNP,C,T,c.(1111-1113)Ggc>Agc,8,3,0,16
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,MACROD2,140733,20,16025293,16025293,Intron,SNP,C,A,,4,52,0,119
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,MYH7B,57644,20,33572704,33572704,Silent,SNP,C,T,c.(820-822)gcC>gcT,7,82,0,76
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CHAF1B,8208,21,37781694,37781694,Missense_Mutation,SNP,C,T,c.(850-852)Cct>Tct,44,77,0,234
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,SHROOM4,57477,X,50350704,50350704,Silent,SNP,T,C,c.(3436-3438)gaA>gaG,3,23,1,43
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,XIAP,331,X,123046766,123046766,3'UTR,SNP,G,C,,19,7,0,27
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,PRDM2,7799,1,14112958,14112961,Intron,DEL,CATG,-,,6,9,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,NIPAL3,57185,1,24780692,24780693,Intron,INS,-,T,,20,8,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ZMYM4,9202,1,35873590,35873590,Intron,DEL,G,-,,3,16,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,Unknown,0,1,111923159,111923160,IGR,INS,-,GTT,,3,15,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,GDAP2,54834,1,118454613,118454617,Splice_Site,DEL,TACGA,-,c.(556-561)cttcgt>ctt,3,50,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,Unknown,0,1,173331548,173331549,IGR,INS,-,C,,0,3,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CENPF,1063,1,214814150,214814151,Frame_Shift_Ins,INS,-,G,c.(2470-2472)aatfs,3,16,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,USH2A,7399,1,215847654,215847654,Frame_Shift_Del,DEL,T,-,c.(13597-13599)tcafs,6,8,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,SMEK2,57223,2,55808859,55808860,Intron,INS,-,G,,3,7,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CCDC93,54520,2,118707013,118707014,Intron,DEL,GC,-,,3,25,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,KIF5C,3800,2,149630231,149630232,5'Flank,INS,-,AG,,2,3,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,TTN,7273,2,179516367,179516370,Intron,DEL,AGGG,-,,12,29,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,FSIP2,401024,2,186671276,186671277,Frame_Shift_Ins,INS,-,G,c.(17242-17247)gaagagfs,3,17,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,HIBCH,26275,2,191175621,191175622,Intron,INS,-,AC,,3,24,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ICOS,29851,2,204821326,204821327,Intron,INS,-,C,,3,22,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,NCL,4691,2,232321508,232321509,Intron,INS,-,C,,3,17,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ATG16L1,55054,2,234164714,234164715,Intron,INS,-,T,,4,15,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,DLG1,1739,3,196803578,196803579,Intron,INS,-,GG,,3,20,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ZNF876P,642280,4,248243,248243,RNA,DEL,C,-,,3,5,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,C5orf42,65250,5,37196086,37196087,Frame_Shift_Ins,INS,-,AG,c.(3682-3687)aaaggafs,3,18,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,IL6ST,3572,5,55265415,55265415,Frame_Shift_Del,DEL,A,-,c.(331-333)cttfs,5,5,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,NLN,57486,5,65058768,65058769,Intron,INS,-,C,,4,7,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,12,24,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,Unknown,0,8,2148548,2148548,IGR,DEL,C,-,,5,26,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,TNKS,8658,8,9610193,9610194,Intron,INS,-,G,,4,7,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CSPP1,79848,8,68071207,68071208,Intron,INS,-,G,,3,10,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CA3,761,8,86351952,86351953,Frame_Shift_Ins,INS,-,C,c.(46-48)tggfs,2,10,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,TMEFF1,8577,9,103310175,103310176,Splice_Site,INS,-,AT,c.e6+1,3,16,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,FKTN,2218,9,108360501,108360502,Intron,INS,-,A,,4,4,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,FNBP1,23048,9,132671145,132671146,Intron,INS,-,TT,,3,15,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,PTEN,5728,10,89690820,89690827,Frame_Shift_Del,DEL,ATGACACC,-,c.(226-234)tatgacaccfs,12,27,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,Unknown,0,11,33808994,33808995,IGR,INS,-,T,,3,17,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,OR5L2,26338,11,55595579,55595580,Frame_Shift_Del,DEL,GG,-,c.(883-888)aaggatfs,3,10,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,KCNJ8,3764,12,21919634,21919634,Intron,DEL,A,-,,3,14,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,SCN8A,6334,12,52106487,52106488,Intron,INS,-,T,,5,14,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,STAB2,55576,12,104049134,104049135,Intron,INS,-,CT,,3,12,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,SGCG,6445,13,23777818,23777819,Intron,DEL,AC,-,,28,92,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,FAM177A1,283635,14,35522692,35522693,Intron,INS,-,A,,3,19,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,KCNH5,27133,14,63417280,63417281,Intron,INS,-,TCT,,2,3,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,PCNX,22990,14,71576343,71576344,Intron,INS,-,T,,3,16,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,MGA,23269,15,42054014,42054022,In_Frame_Del,DEL,GAATATTCT,-,c.(7474-7485)cggaatattctg>cgg,3,29,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,CLEC16A,23274,16,11066422,11066424,Intron,DEL,TTA,-,,13,58,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,LCMT1,51451,16,25172193,25172194,Intron,INS,-,GTG,,3,11,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ZNF19,7567,16,71509609,71509610,Frame_Shift_Ins,INS,-,T,c.(838-843)aaagctfs,3,22,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,GLOD4,51031,17,681766,681767,Intron,INS,-,CTT,,3,2,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,KRT9,3857,17,39723932,39723933,In_Frame_Ins,INS,-,CCCACT,c.(1462-1467)ggatcc>ggaAGTGGGtcc,6,55,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,VAPA,9218,18,9954037,9954038,Intron,INS,-,T,,13,14,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ZNF846,162993,19,9875510,9875511,Intron,INS,-,T,,2,12,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,ARFGEF2,10564,20,47648790,47648791,Intron,INS,-,A,,3,12,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,AP001465.5,0,21,14916972,14916973,lincRNA,INS,-,A,,6,7,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,BMS1P20,96610,22,22662989,22662989,RNA,DEL,T,-,,3,6,,
RP-1532_PCProject_0035_T1_v3_Exome_OnPrem,TTLL1,25809,22,43465484,43465485,Intron,INS,-,AG,,0,1,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,NBPF3,84224,1,21806606,21806606,Missense_Mutation,SNP,T,G,c.(1270-1272)tTt>tGt,9,104,0,168
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,NBPF14,25832,1,148009453,148009453,Silent,SNP,G,A,c.(1852-1854)tgC>tgT,12,399,0,698
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,HRNR,388697,1,152193371,152193371,Missense_Mutation,SNP,C,G,c.(733-735)aGt>aCt,8,168,0,203
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,INSRR,3645,1,156815793,156815793,Silent,SNP,C,T,c.(1927-1929)caG>caA,5,85,0,67
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ARHGEF11,9826,1,156912481,156912481,Splice_Site,SNP,C,T,c.e32+1,4,25,0,47
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,IGFN1,91156,1,201179937,201179937,Missense_Mutation,SNP,G,A,c.(5914-5916)atG>atA,4,67,0,153
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,EDAR,10913,2,109527458,109527458,Silent,SNP,G,A,c.(598-600)atC>atT,12,58,0,96
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,TANC1,85461,2,160050801,160050801,Missense_Mutation,SNP,G,A,c.(2776-2778)Gtg>Atg,12,28,1,99
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,RAPGEF4,11069,2,173662315,173662315,Missense_Mutation,SNP,A,C,c.(271-273)Aaa>Caa,14,51,0,69
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,STAT1,6772,2,191854356,191854356,Missense_Mutation,SNP,T,C,c.(1081-1083)aAa>aGa,15,59,0,56
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ATIC,471,2,216213428,216213428,Intron,SNP,A,G,,6,30,0,28
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,HYAL2,8692,3,50357463,50357463,Missense_Mutation,SNP,C,T,c.(457-459)cGg>cAg,5,92,0,137
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,CACNA2D2,9254,3,50471748,50471748,Missense_Mutation,SNP,A,C,c.(400-402)cTg>cGg,10,44,0,39
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,EPHA3,2042,3,89390964,89390964,Missense_Mutation,SNP,G,A,c.(1030-1032)Gac>Aac,10,22,0,50
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,EPHA3,2042,3,89390982,89390982,Missense_Mutation,SNP,G,C,c.(1048-1050)Gac>Cac,18,34,0,70
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,MBNL1,4154,3,151986647,151986647,5'UTR,SNP,C,G,,6,30,1,41
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,PPA2,27068,4,106326996,106326996,Intron,SNP,A,G,,29,70,0,58
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,RPL34,6164,4,109546369,109546369,3'UTR,SNP,A,C,,22,62,0,58
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,TRPC3,7222,4,122853651,122853651,Missense_Mutation,SNP,C,T,c.(760-762)atG>atA,30,24,0,109
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,GUCY1A3,2982,4,156631722,156631722,Silent,SNP,T,G,c.(403-405)tcT>tcG,7,10,0,35
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,6-Mar,10299,5,10410362,10410362,Silent,SNP,G,A,c.(1663-1665)gcG>gcA,4,74,1,86
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,DHFR,1719,5,79945913,79945913,Intron,SNP,A,G,,6,54,0,69
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,REEP5,7905,5,112214542,112214542,Intron,SNP,T,C,,12,65,1,132
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ARAP3,64411,5,141051536,141051536,Missense_Mutation,SNP,C,T,c.(1597-1599)Gcc>Acc,16,71,0,73
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,KIF13A,63971,6,17882175,17882175,Intron,SNP,T,C,,4,19,0,30
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,TPMT,7172,6,18139906,18139906,Missense_Mutation,SNP,C,G,c.(409-411)Gat>Cat,25,66,0,88
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,DPCR1,135656,6,30918155,30918155,Silent,SNP,A,G,c.(1912-1914)ccA>ccG,6,133,0,177
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,DPCR1,135656,6,30918391,30918391,Missense_Mutation,SNP,C,T,c.(2149-2151)tCc>tTc,7,165,0,213
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,DPCR1,135656,6,30918725,30918725,Missense_Mutation,SNP,G,C,c.(2482-2484)agG>agC,7,180,0,202
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,GPR110,266977,6,46988189,46988189,Intron,SNP,T,G,,4,32,0,45
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,MTRNR2L9,100463487,6,62284240,62284240,Missense_Mutation,SNP,G,C,c.(7-9)cGa>cCa,5,83,0,73
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,FHL5,9457,6,97051652,97051652,Intron,SNP,A,T,,3,7,0,33
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,LFNG,3955,7,2565141,2565141,Silent,SNP,C,T,c.(673-675)gtC>gtT,5,131,0,138
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,LFNG,3955,7,2565153,2565153,Silent,SNP,C,T,c.(685-687)agC>agT,5,132,0,141
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,RAPGEF5,9771,7,22202161,22202161,Splice_Site,SNP,T,C,c.e3-2,38,95,0,98
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,AMPH,273,7,38468096,38468096,Intron,SNP,A,G,,20,46,0,107
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,SMURF1,57154,7,98655095,98655095,Silent,SNP,G,A,c.(283-285)Ctg>Ttg,5,37,0,75
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,RELN,5649,7,103281000,103281000,Missense_Mutation,SNP,G,C,c.(2059-2061)Cat>Gat,23,202,0,182
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,FAM66D,100132923,8,11990819,11990819,RNA,SNP,T,G,,6,154,0,320
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,USP17L2,377630,8,11994951,11994951,Missense_Mutation,SNP,G,A,c.(1318-1320)cCc>cTc,8,173,0,330
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,TMEM67,91147,8,94772084,94772084,Intron,SNP,T,C,,5,12,0,15
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,RIMS2,9699,8,104932945,104932945,Intron,SNP,T,C,,5,165,0,93
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,CSMD3,114788,8,113678628,113678628,Missense_Mutation,SNP,A,T,c.(2692-2694)caT>caA,7,176,0,129
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZC3H3,23144,8,144557718,144557718,Missense_Mutation,SNP,C,T,c.(1753-1755)Ggg>Agg,15,56,0,47
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,C5,727,9,123762207,123762207,Intron,SNP,T,G,,4,64,0,58
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,WDFY4,57705,10,49983822,49983822,Missense_Mutation,SNP,A,G,c.(2833-2835)cAc>cGc,4,117,0,112
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,KAT6B,23522,10,76788773,76788773,Silent,SNP,G,A,c.(4189-4191)acG>acA,6,322,0,278
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,PAPSS2,9060,10,89501080,89501080,Missense_Mutation,SNP,G,A,c.(1159-1161)cGt>cAt,6,222,0,187
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,DEAF1,10522,11,651317,651317,Intron,SNP,A,G,,4,26,0,28
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,TRPM5,29850,11,2434764,2434764,Missense_Mutation,SNP,G,A,c.(1945-1947)Cgg>Tgg,4,76,0,107
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF195,7748,11,3380585,3380585,Silent,SNP,C,T,c.(1651-1653)aaG>aaA,5,60,0,65
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,MTRNR2L8,100463486,11,10529781,10529781,5'UTR,SNP,A,G,,5,59,0,70
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,AHNAK,79026,11,62295576,62295576,Missense_Mutation,SNP,G,A,c.(6313-6315)Ctt>Ttt,7,95,0,178
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,NOP2,4839,12,6667191,6667191,Intron,SNP,T,C,,3,2,0,22
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,PPP1R12A,4659,12,80201097,80201097,Missense_Mutation,SNP,A,C,c.(1564-1566)Ttg>Gtg,14,80,0,111
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,RASAL1,8437,12,113559454,113559454,Intron,SNP,C,A,,27,19,0,58
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ANAPC5,51433,12,121783736,121783736,Missense_Mutation,SNP,C,T,c.(496-498)Gag>Aag,9,82,0,98
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,SYNE2,23224,14,64537552,64537552,Missense_Mutation,SNP,G,A,c.(10621-10623)Gtt>Att,31,54,0,123
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,DNM1P46,196968,15,100330563,100330563,RNA,SNP,G,A,,5,37,0,42
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ADCY9,115,16,4165046,4165046,Missense_Mutation,SNP,T,G,c.(397-399)tAt>tCt,31,59,0,113
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,NPIPA5,100288332,16,15457597,15457597,Silent,SNP,C,T,c.(970-972)gcG>gcA,6,88,0,158
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ITPRIPL2,162073,16,19127238,19127238,Silent,SNP,C,T,c.(1453-1455)gaC>gaT,7,44,0,44
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,C16orf62,57020,16,19589635,19589635,Intron,SNP,A,G,,8,89,0,80
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,DCTN5,84516,16,23668818,23668818,Intron,SNP,A,G,,4,46,0,26
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,NKD1,85407,16,50583353,50583353,Missense_Mutation,SNP,G,A,c.(79-81)Gct>Act,22,18,0,42
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ATXN1L,342371,16,71885076,71885076,Missense_Mutation,SNP,C,G,c.(1432-1434)gCt>gGt,21,49,0,77
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ADPRM,56985,17,10614234,10614234,Missense_Mutation,SNP,C,T,c.(802-804)Cat>Tat,5,134,0,170
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,MTRNR2L1,100462977,17,22023380,22023380,5'UTR,SNP,T,C,,9,65,0,54
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,MTRNR2L1,100462977,17,22023384,22023384,5'UTR,SNP,C,A,,9,68,0,55
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,KLHL11,55175,17,40010866,40010866,Missense_Mutation,SNP,C,T,c.(1252-1254)gGg>gAg,9,35,0,69
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,MRPL10,124995,17,45905870,45905870,Silent,SNP,C,T,c.(217-219)caG>caA,3,2,0,14
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF253,56242,19,20003306,20003306,Missense_Mutation,SNP,C,T,c.(1249-1251)aCt>aTt,5,64,0,88
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF93,81931,19,20045324,20045324,Silent,SNP,G,A,c.(1558-1560)caG>caA,6,117,0,141
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF682,91120,19,20117522,20117522,Silent,SNP,T,G,c.(787-789)ggA>ggC,4,37,0,75
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF85,7639,19,21132259,21132259,Silent,SNP,T,C,c.(937-939)ccT>ccC,4,45,1,72
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF99,7652,19,22940178,22940178,Missense_Mutation,SNP,C,T,c.(2533-2535)Gca>Aca,6,79,0,122
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF91,7644,19,23542628,23542628,Silent,SNP,C,T,c.(3151-3153)aaG>aaA,4,42,0,73
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF91,7644,19,23542634,23542634,Silent,SNP,A,G,c.(3145-3147)ccT>ccC,4,41,0,69
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF726,730087,19,24115958,24115958,Missense_Mutation,SNP,C,G,c.(1039-1041)gCc>gGc,5,72,0,122
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF536,9745,19,31039897,31039897,Missense_Mutation,SNP,C,T,c.(3370-3372)tCa>tTa,4,38,0,68
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,AC002511.1,0,19,35899294,35899294,lincRNA,SNP,C,T,,3,16,0,38
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,U2AF1L4,199746,19,36234549,36234549,Intron,SNP,A,C,,3,7,0,20
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF850,342892,19,37239591,37239591,Missense_Mutation,SNP,A,G,c.(2350-2352)cTc>cCc,6,47,0,105
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF850,342892,19,37239593,37239593,Silent,SNP,C,T,c.(2347-2349)aaG>aaA,5,52,0,105
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF850,342892,19,37239677,37239677,Silent,SNP,T,C,c.(2263-2265)aaA>aaG,4,67,1,106
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,SPRED3,399473,19,38886535,38886535,Missense_Mutation,SNP,G,A,c.(982-984)cGt>cAt,5,80,0,97
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,IRF2BP1,26145,19,46388489,46388489,Missense_Mutation,SNP,C,T,c.(544-546)Gca>Aca,4,48,0,86
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF701,55762,19,53086538,53086538,Missense_Mutation,SNP,G,C,c.(1423-1425)cGt>cCt,4,50,0,100
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,REM1,28954,20,30070193,30070193,Missense_Mutation,SNP,G,A,c.(526-528)cGc>cAc,34,68,0,160
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,RTFDC1,51507,20,55093325,55093325,3'UTR,SNP,C,G,,4,24,0,23
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ADRM1,11047,20,60878772,60878772,Nonsense_Mutation,SNP,C,T,c.(148-150)Cag>Tag,20,45,0,70
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,C20orf166,128826,20,61151571,61151571,Intron,SNP,A,G,,3,11,0,12
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,LTN1,26046,21,30365138,30365138,5'UTR,SNP,C,T,,6,125,1,121
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,OLIG1,116448,21,34443237,34443237,Missense_Mutation,SNP,T,A,c.(685-687)Tgc>Agc,11,28,0,53
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,SLC2A11,66035,22,24225173,24225173,Intron,SNP,T,C,,4,41,0,69
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,SLC2A11,66035,22,24225185,24225185,Intron,SNP,T,C,,6,27,0,56
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,SLC2A11,66035,22,24225194,24225194,Intron,SNP,G,T,,5,26,0,50
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,EDA,1896,X,69176989,69176989,Intron,SNP,C,T,,4,57,0,48
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,TCHH,7062,1,152084988,152084990,In_Frame_Del,DEL,GTC,-,c.(703-705)gacdel,5,32,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,PKP1,5317,1,201262936,201262937,Intron,INS,-,T,,3,5,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF695,57116,1,247130067,247130068,Intron,INS,-,C,,3,46,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,WDR35,57539,2,20141503,20141503,Intron,DEL,A,-,,11,44,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,7-Mar,64844,2,160604873,160604873,Frame_Shift_Del,DEL,T,-,c.(1072-1074)tcafs,6,37,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,TRPM8,79054,2,234878992,234878992,Frame_Shift_Del,DEL,T,-,c.(2275-2277)gatfs,76,123,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,SMIM3,85027,5,150175069,150175070,Frame_Shift_Ins,INS,-,T,c.(67-69)attfs,53,72,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF292,23036,6,87970761,87970762,Frame_Shift_Ins,INS,-,A,c.(7414-7416)gaafs,3,19,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,GPR6,2830,6,110300422,110300422,Frame_Shift_Del,DEL,G,-,c.(106-108)tggfs,16,16,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,TXLNB,167838,6,139564091,139564092,Frame_Shift_Ins,INS,-,A,c.(1624-1629)gagcaafs,7,38,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,PHF10,55274,6,170112659,170112660,Intron,INS,-,C,,3,10,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,CROT,54677,7,87005071,87005071,Intron,DEL,T,-,,25,36,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,7,19,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,CCDC136,64753,7,128457699,128457699,Intron,DEL,C,-,,5,17,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ZNF783,100289678,7,148963848,148963849,Intron,INS,-,C,,4,12,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,NRG1,3084,8,32607160,32607160,Intron,DEL,T,-,,4,9,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,IDO1,3620,8,39776675,39776675,Intron,DEL,T,-,,4,7,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,FAM206A,54942,9,111701597,111701598,Intron,INS,-,T,,9,12,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,HK1,3098,10,71048667,71048668,Intron,INS,-,G,,3,4,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,MRPL16,54948,11,59578011,59578011,Intron,DEL,A,-,,8,4,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,PTPN6,5777,12,7065167,7065168,Intron,INS,-,T,,2,7,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,PAN2,9924,12,56716743,56716744,Intron,INS,-,T,,5,14,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,PARP4,143,13,25068650,25068650,Intron,DEL,G,-,,4,14,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,COL4A1,1282,13,110855790,110855791,Intron,INS,-,C,,3,10,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ATP11A,23250,13,113536242,113536242,3'UTR,DEL,C,-,,42,112,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,DAAM1,23002,14,59793596,59793597,Intron,INS,-,A,,6,20,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,UQCRC2,7385,16,21974073,21974074,Intron,INS,-,TTCTG,,7,24,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,ACACA,31,17,35446130,35446132,Intron,DEL,TCA,-,,3,13,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,MAPT,4137,17,44087585,44087586,Intron,DEL,CA,-,,7,42,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,GAPDHS,26330,19,36029433,36029433,Intron,DEL,C,-,,3,13,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,WDR87,83889,19,38379153,38379154,Frame_Shift_Ins,INS,-,G,c.(5038-5043)gcaaagfs,9,33,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,FUT1,2523,19,49254370,49254371,Frame_Shift_Ins,INS,-,A,c.(166-171)tgcctgfs,0,12,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,BFSP1,631,20,17475641,17475642,Frame_Shift_Ins,INS,-,T,c.(1075-1077)gcafs,3,19,,
RP-1532_PCProject_0036_T1_v3_Exome_OnPrem,TPTE,7179,21,10909969,10909971,Intron,DEL,TGC,-,,3,0,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,PADI4,23569,1,17661023,17661023,Intron,SNP,T,C,,5,74,0,81
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,CYB5RL,606495,1,54645802,54645802,Intron,SNP,T,C,,5,49,0,48
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,CYB5RL,606495,1,54645857,54645857,Intron,SNP,T,C,,7,115,0,54
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,MROH7,374977,1,55124861,55124861,Intron,SNP,A,G,,5,37,0,41
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ASH1L,55870,1,155490092,155490092,Intron,SNP,G,A,,5,25,0,8
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ARHGEF2,9181,1,155931506,155931506,Missense_Mutation,SNP,T,C,c.(1414-1416)Aaa>Gaa,7,278,0,131
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,RD3,343035,1,211654538,211654538,Missense_Mutation,SNP,T,C,c.(220-222)Agc>Ggc,63,252,0,218
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,EIF2B4,8890,2,27592026,27592026,Missense_Mutation,SNP,C,G,c.(265-267)Gag>Cag,7,459,0,370
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ARHGEF33,100271715,2,39158386,39158386,Missense_Mutation,SNP,G,A,c.(499-501)Gag>Aag,7,23,0,118
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ARHGAP15,55843,2,144525659,144525659,Missense_Mutation,SNP,C,T,c.(1345-1347)gCg>gTg,8,23,0,188
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,DAW1,164781,2,228777070,228777070,Intron,SNP,G,T,,6,152,0,162
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,AC104809.3,0,2,241873890,241873890,Missense_Mutation,SNP,C,T,c.(1471-1473)Cgg>Tgg,9,233,0,72
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TMEM40,55287,3,12784020,12784020,Intron,SNP,A,C,,9,39,0,67
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,CTDSPL,10217,3,38012966,38012966,Silent,SNP,G,A,c.(493-495)gtG>gtA,21,105,0,133
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,CSPG5,10675,3,47618516,47618516,Missense_Mutation,SNP,C,T,c.(1000-1002)Ggc>Agc,32,71,0,88
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,C3orf18,51161,3,50599939,50599939,Intron,SNP,T,C,,6,201,0,175
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,UMPS,7372,3,124464335,124464335,IGR,SNP,C,T,,5,67,0,114
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,IFT122,55764,3,129178171,129178171,Intron,SNP,T,C,,9,194,0,73
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,AC104472.1,0,3,155461335,155461335,Silent,SNP,G,A,c.(55-57)ttC>ttT,9,214,0,141
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,PLD1,5337,3,171371980,171371980,Intron,SNP,A,C,,5,15,0,24
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TM4SF19,116211,3,196046903,196046903,Intron,SNP,T,C,,6,57,0,32
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,KIAA0226,9711,3,197421036,197421036,Intron,SNP,C,A,,6,167,0,148
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,RELL1,768211,4,37624532,37624532,Intron,SNP,C,T,,6,94,0,68
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,GSX2,170825,4,54966557,54966557,Missense_Mutation,SNP,T,G,c.(46-48)Tca>Gca,80,275,0,194
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,EIF4E,1977,4,99807657,99807657,Intron,SNP,A,G,,4,18,0,55
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SLC6A19,340024,5,1216907,1216907,Silent,SNP,C,T,c.(1018-1020)aaC>aaT,155,426,0,243
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,AQPEP,0,5,115298069,115298069,5'Flank,SNP,T,G,,11,51,0,80
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,BRD8,10902,5,137485357,137485357,Missense_Mutation,SNP,G,C,c.(3250-3252)Ctt>Gtt,8,27,0,108
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,PCDHB12,56124,5,140589096,140589096,Missense_Mutation,SNP,C,G,c.(616-618)cCg>cGg,14,45,0,122
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,GABRB2,2561,5,160973349,160973349,Missense_Mutation,SNP,G,A,c.(148-150)Cgt>Tgt,15,44,0,139
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ADAMTS2,9509,5,178578171,178578171,Intron,SNP,A,T,,6,55,0,17
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,DPCR1,135656,6,30917928,30917928,Missense_Mutation,SNP,G,A,c.(1687-1689)Gga>Aga,7,104,0,265
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,CLPS,1208,6,35764627,35764627,Intron,SNP,T,C,,6,69,0,40
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,MTO1,25821,6,74190025,74190025,Missense_Mutation,SNP,T,C,c.(1138-1140)tTg>tCg,6,87,0,119
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SAMD3,154075,6,130504414,130504414,Intron,SNP,G,A,,6,60,0,48
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,PPIL4,85313,6,149826772,149826772,Missense_Mutation,SNP,A,C,c.(1294-1296)agT>agG,5,44,0,279
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,INTS1,26173,7,1513311,1513311,Missense_Mutation,SNP,G,A,c.(5848-5850)Cgc>Tgc,7,289,0,179
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,VWC2,375567,7,49842319,49842319,Missense_Mutation,SNP,G,A,c.(709-711)Gag>Aag,10,185,0,118
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ZNF273,10793,7,64383765,64383765,Intron,SNP,T,C,,6,177,0,112
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,CRCP,27297,7,65595188,65595188,Intron,SNP,A,G,,6,24,0,38
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,KCTD7,154881,7,66238691,66238691,Missense_Mutation,SNP,T,C,c.(193-195)Tac>Cac,9,156,0,129
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,NCF1,653361,7,74192736,74192736,Intron,SNP,A,G,,7,222,0,149
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,AGFG2,3268,7,100160278,100160278,Missense_Mutation,SNP,G,A,c.(1060-1062)Ggc>Agc,6,218,0,63
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TRIM56,81844,7,100734924,100734924,IGR,SNP,T,C,,10,82,0,63
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,MYL10,93408,7,101272318,101272318,Intron,SNP,T,C,,8,166,0,89
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,PRKRIP1,79706,7,102063646,102063646,Intron,SNP,T,C,,11,74,0,53
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,HBP1,26959,7,106836783,106836783,Intron,SNP,A,G,,6,39,0,64
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,MKRN1,23608,7,140159933,140159933,Intron,SNP,A,G,,4,35,0,19
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,PTPRN2,5799,7,157959878,157959878,Missense_Mutation,SNP,G,A,c.(655-657)Cgg>Tgg,56,300,0,97
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ADRA1A,148,8,26606185,26606185,Missense_Mutation,SNP,T,G,c.(1348-1350)agA>agC,5,36,0,22
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,HGSNAT,138050,8,43023163,43023163,Intron,SNP,A,G,,4,29,0,20
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,FAM83H-AS1,100128338,8,144826031,144826031,lincRNA,SNP,T,C,,5,117,0,49
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,FAM83H-AS1,100128338,8,144826037,144826037,lincRNA,SNP,T,C,,5,115,0,50
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,DMRT1,1761,9,842360,842360,Intron,SNP,A,G,,4,22,0,21
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,RAPGEF1,2889,9,134465331,134465331,Missense_Mutation,SNP,T,C,c.(2251-2253)Aag>Gag,6,280,0,185
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TMEM8C,389827,9,136389969,136389969,5'UTR,SNP,G,A,,32,67,0,54
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SARDH,1757,9,136590705,136590705,Intron,SNP,C,G,,7,118,0,33
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,STAM,8027,10,17746987,17746987,Missense_Mutation,SNP,G,A,c.(1018-1020)gGa>gAa,6,25,0,122
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ZNF239,8187,10,44052419,44052419,Missense_Mutation,SNP,G,A,c.(1108-1110)aCa>aTa,5,90,0,159
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,CASP7,840,10,115485785,115485785,Intron,SNP,G,C,,5,47,0,72
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ADAM8,101,10,135085733,135085733,Silent,SNP,G,A,c.(919-921)tcC>tcT,5,127,0,59
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TSSC4,10078,11,2424754,2424754,Silent,SNP,G,A,c.(889-891)ccG>ccA,14,37,0,26
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,OR5D18,219438,11,55588033,55588033,Missense_Mutation,SNP,G,A,c.(928-930)Gtc>Atc,7,19,0,57
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,FADS1,3992,11,61579389,61579389,Intron,SNP,C,T,,7,46,0,38
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,DSCAML1,57453,11,117329470,117329470,Splice_Site,SNP,C,T,c.(3748-3750)Gtt>Att,9,549,0,170
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SLC48A1,55652,12,48174408,48174408,3'UTR,SNP,A,G,,5,28,1,47
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,KMT2D,8085,12,49420540,49420540,Missense_Mutation,SNP,T,C,c.(15208-15210)tAt>tGt,22,56,0,71
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,USP15,9958,12,62785006,62785006,Missense_Mutation,SNP,A,G,c.(2029-2031)aAc>aGc,8,28,0,132
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,MVK,4598,12,110017067,110017067,Intron,SNP,T,C,,10,95,0,43
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,HCAR2,338442,12,123187298,123187298,Missense_Mutation,SNP,C,A,c.(532-534)aGc>aTc,89,153,0,266
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,CHFR,55743,12,133438931,133438931,Intron,SNP,T,C,,4,27,0,35
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,C14orf23,387978,14,29282228,29282228,Missense_Mutation,SNP,A,G,c.(172-174)Act>Gct,5,74,0,40
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,C14orf105,55195,14,57942341,57942341,Intron,SNP,T,C,,4,39,0,49
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ACTN1,87,14,69343939,69343939,Missense_Mutation,SNP,G,A,c.(2380-2382)Cgc>Tgc,5,144,0,110
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,DCAF5,8816,14,69521828,69521828,Silent,SNP,C,T,c.(1573-1575)ctG>ctA,50,143,0,157
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TTLL5,23093,14,76284879,76284879,Intron,SNP,T,G,,6,46,0,33
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TMEM63C,57156,14,77697969,77697969,Missense_Mutation,SNP,G,A,c.(388-390)cGc>cAc,24,245,1,204
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ADCK1,57143,14,78294241,78294241,Intron,SNP,G,A,,6,123,0,68
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ADCK1,57143,14,78294258,78294258,Intron,SNP,A,G,,6,89,0,55
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ADCK1,57143,14,78294274,78294274,Intron,SNP,T,C,,7,78,0,44
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TTC7B,145567,14,91059861,91059861,Missense_Mutation,SNP,C,G,c.(2074-2076)tgG>tgC,21,62,0,41
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,APOPT1,84334,14,104045768,104045768,Intron,SNP,A,C,,3,9,0,8
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,NUTM1,256646,15,34640629,34640629,Missense_Mutation,SNP,C,T,c.(475-477)cCg>cTg,43,111,0,144
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,MEIS2,4212,15,37390275,37390275,Silent,SNP,G,A,c.(136-138)caC>caT,20,106,0,62
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,NUSAP1,51203,15,41637734,41637734,Intron,SNP,C,T,,6,78,0,47
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,Unknown,0,16,797297,797297,IGR,SNP,G,A,,6,104,0,57
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,APOBR,55911,16,28507863,28507863,Missense_Mutation,SNP,A,C,c.(1474-1476)Agc>Cgc,6,20,0,20
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,CCDC101,112869,16,28599996,28599996,Intron,SNP,T,C,,6,98,1,44
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,MVP,9961,16,29851739,29851739,Missense_Mutation,SNP,G,A,c.(1150-1152)Gag>Aag,72,162,0,105
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,FBXL19,54620,16,30939132,30939132,Missense_Mutation,SNP,G,A,c.(535-537)Gga>Aga,5,138,0,59
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ZNF646,9726,16,31088501,31088501,Nonsense_Mutation,SNP,C,T,c.(856-858)Cga>Tga,31,76,0,83
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ADCY7,113,16,50346881,50346881,Silent,SNP,C,T,c.(2683-2685)tgC>tgT,39,168,0,214
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,VPS4A,27183,16,69357610,69357610,Intron,SNP,C,T,,7,159,0,89
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,VPS9D1,9605,16,89777258,89777258,Missense_Mutation,SNP,G,A,c.(994-996)Cat>Tat,8,43,0,25
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SCIMP,388325,17,5124314,5124314,Intron,SNP,A,C,,9,95,0,53
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,RPAIN,84268,17,5328765,5328765,Intron,SNP,T,C,,4,31,0,32
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TP53,7157,17,7574003,7574003,Nonsense_Mutation,SNP,G,A,c.(1024-1026)Cga>Tga,6,237,0,174
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,RCVRN,5957,17,9808303,9808303,Silent,SNP,G,A,c.(193-195)taC>taT,10,661,0,235
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,MYH13,8735,17,10267752,10267752,Silent,SNP,G,A,c.(94-96)ttC>ttT,6,131,0,258
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,WNK4,65266,17,40945893,40945893,Intron,SNP,T,C,,8,137,0,124
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,WNK4,65266,17,40945933,40945933,Intron,SNP,C,T,,6,81,1,67
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,RHBDF2,79651,17,74473831,74473831,Missense_Mutation,SNP,G,A,c.(796-798)Cgg>Tgg,110,379,0,138
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ASPSCR1,79058,17,79967890,79967890,Intron,SNP,G,A,,8,131,0,35
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,HDGFRP2,0,19,4497070,4497070,Intron,SNP,T,C,,6,105,0,54
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,HDGFRP2,0,19,4497147,4497147,Intron,SNP,A,G,,9,430,0,111
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SLC44A2,57153,19,10751705,10751705,Intron,SNP,C,G,,6,126,0,55
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TNPO2,30000,19,12813239,12813239,Intron,SNP,T,C,,7,128,0,55
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,CACNA1A,773,19,13335577,13335577,Missense_Mutation,SNP,G,A,c.(5635-5637)Cgg>Tgg,57,158,1,87
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,BRD4,23476,19,15350017,15350017,Missense_Mutation,SNP,G,A,c.(3634-3636)aCc>aTc,9,309,0,104
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ZNF708,7562,19,21477333,21477333,Silent,SNP,G,A,c.(433-435)taC>taT,4,32,0,157
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ZNF208,7757,19,22154081,22154081,Missense_Mutation,SNP,G,A,c.(3754-3756)cCc>cTc,4,42,1,184
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,C19orf12,83636,19,30190364,30190364,IGR,SNP,C,T,,5,51,0,43
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,CEACAM1,634,19,43020933,43020933,Intron,SNP,T,C,,4,21,0,56
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ZNF225,7768,19,44636303,44636303,Silent,SNP,C,T,c.(1534-1536)ttC>ttT,4,21,0,154
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,NUP62,23636,19,50410836,50410836,3'UTR,SNP,T,C,,6,93,0,74
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,FAM71E1,112703,19,50971087,50971087,Splice_Site,SNP,C,T,c.e4-1,7,188,0,133
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SHANK1,50944,19,51192224,51192224,Splice_Site,SNP,C,T,c.(2047-2049)gcG>gcA,61,92,0,68
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,FPR1,2357,19,52249869,52249869,Missense_Mutation,SNP,C,T,c.(379-381)Gtc>Atc,69,218,0,178
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ZNF841,284371,19,52569708,52569708,Missense_Mutation,SNP,C,T,c.(1078-1080)cGg>cAg,3,7,0,76
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ZNF416,55659,19,58087214,58087214,Missense_Mutation,SNP,G,A,c.(160-162)Cgc>Tgc,59,176,0,162
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,MCM8,84515,20,5953261,5953261,Intron,SNP,T,C,,5,76,0,74
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SLC32A1,140679,20,37353443,37353443,Missense_Mutation,SNP,G,A,c.(76-78)Ggc>Agc,11,373,0,128
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,PTPRT,11122,20,41419986,41419986,Missense_Mutation,SNP,C,T,c.(334-336)cGt>cAt,63,243,1,211
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,LAMA5,3911,20,60917284,60917284,Intron,SNP,A,G,,5,47,0,28
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ARFGAP1,55738,20,61910651,61910651,Intron,SNP,A,G,,5,134,0,57
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TRPM2,7226,21,45833769,45833769,Intron,SNP,G,A,,30,98,0,59
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ZNF74,7625,22,20753952,20753952,Intron,SNP,T,C,,5,45,0,34
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,RHBDD3,25807,22,29657356,29657356,Intron,SNP,C,T,,7,172,0,96
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SEC14L3,266629,22,30867165,30867165,Intron,SNP,A,G,,7,53,0,50
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,RBFOX2,23543,22,36218895,36218895,Intron,SNP,T,G,,11,143,0,80
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,MGAT3,4248,22,39882235,39882235,Intron,SNP,T,C,,5,66,0,67
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,CSF2RA,1438,X,1428517,1428517,3'UTR,SNP,C,T,,7,184,0,139
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,NIPAL3,57185,1,24780692,24780693,Intron,INS,-,T,,30,8,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ELAVL4,1996,1,50575700,50575701,Intron,DEL,CT,-,,23,54,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,DPYD,1806,1,98187193,98187193,Frame_Shift_Del,DEL,T,-,c.(355-357)gacfs,3,23,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,NBPF10,100132406,1,145367727,145367729,In_Frame_Del,DEL,GGG,-,c.(10321-10326)aagggg>aag,12,33,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,COLGALT2,23127,1,183947538,183947538,Intron,DEL,A,-,,4,20,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,OPTC,26254,1,203469109,203469111,Intron,DEL,CAT,-,,12,50,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,RRP15,51018,1,218504440,218504441,3'UTR,INS,-,CG,,3,7,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ABCB10,23456,1,229654166,229654169,Intron,DEL,GGAG,-,,3,11,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,WDR35,57539,2,20162173,20162174,Intron,INS,-,CT,,3,6,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,EPT1,85465,2,26596154,26596155,Intron,INS,-,TC,,3,0,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,PUS10,150962,2,61194726,61194727,Frame_Shift_Ins,INS,-,A,c.(523-528)ggaagafs,3,25,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TTN,7273,2,179458684,179458685,Intron,INS,-,A,,3,9,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ITGA4,3676,2,182376371,182376372,Intron,INS,-,C,,5,9,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,GULP1,51454,2,189447047,189447048,Intron,INS,-,CCA,,3,1,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ILKAP,80895,2,239098617,239098618,Intron,INS,-,A,,3,22,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SATB1,6304,3,18436099,18436100,Frame_Shift_Ins,INS,-,T,c.(1060-1062)agtfs,46,98,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,LARS2,23395,3,45588835,45588837,Intron,DEL,CTT,-,,5,6,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,LRRC2,79442,3,46571382,46571382,Intron,DEL,T,-,,3,19,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,RBM5,10181,3,50141810,50141811,Intron,INS,-,CAC,,2,9,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,CADPS,8618,3,62860162,62860163,Intron,INS,-,T,,5,8,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,MORC1,27136,3,108746551,108746552,Intron,DEL,AG,-,,3,22,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,GOLGB1,2804,3,121441075,121441076,Intron,INS,-,T,,3,9,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,EAF2,55840,3,121573680,121573681,Intron,INS,-,AA,,3,16,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,WDR49,151790,3,167339374,167339375,Intron,INS,-,T,,4,22,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ATP13A5,344905,3,193023518,193023519,Intron,INS,-,A,,3,11,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,NOP14,8602,4,2955398,2955399,Intron,INS,-,A,,3,12,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,FRYL,285527,4,48553644,48553645,Intron,INS,-,G,,2,3,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,EPHA5,2044,4,66217293,66217294,Frame_Shift_Ins,INS,-,A,c.(2320-2322)gtgfs,4,27,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,AFM,173,4,74349944,74349944,Intron,DEL,A,-,,3,8,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,DROSHA,29102,5,31504769,31504770,Intron,INS,-,GGG,,4,21,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,NIPBL,25836,5,37048578,37048581,Intron,DEL,GATG,-,,3,26,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,Unknown,0,5,79611747,79611748,IGR,INS,-,TGA,,3,4,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,C5orf48,0,5,125971787,125971791,Frame_Shift_Del,DEL,GAAAG,-,c.(259-264)gaaaggfs,3,50,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,PPP2R2B,5521,5,146077530,146077531,Intron,INS,-,C,,2,5,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SOX30,11063,5,157053350,157053350,Stop_Codon_Del,DEL,A,-,,3,6,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,UBLCP1,134510,5,158705268,158705268,Frame_Shift_Del,DEL,G,-,c.(706-708)tggfs,4,24,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,STK38,11329,6,36483333,36483334,Intron,INS,-,C,,4,6,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,LATS1,9113,6,150004225,150004226,Frame_Shift_Ins,INS,-,A,c.(1999-2001)gaafs,3,12,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SKAP2,8935,7,26779608,26779609,Intron,INS,-,TGT,,3,15,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,BMPER,168667,7,34101523,34101524,Intron,INS,-,G,,3,5,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,LINC00957,255031,7,44080548,44080549,lincRNA,INS,-,C,,36,81,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,8,26,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,PPP1R3A,5506,7,113558533,113558534,In_Frame_Ins,INS,-,GTGTGG,c.(517-519)tta>ttCCACACa,3,65,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,KIF13B,23303,8,29013380,29013381,Intron,INS,-,G,,3,15,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,IDO2,169355,8,39806655,39806656,5'Flank,INS,-,G,,4,27,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TTPA,7274,8,63985409,63985409,Intron,DEL,T,-,,3,18,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SULF1,23213,8,70571472,70571473,3'UTR,INS,-,ATA,,4,29,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,RPL7,6129,8,74204597,74204599,In_Frame_Del,DEL,TGC,-,c.(163-168)aagcac>aac,3,8,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,VPS13B,157680,8,100847722,100847723,Intron,INS,-,G,,3,21,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,AF186192.5,0,8,145932235,145932236,RNA,INS,-,G,,3,13,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,IFT74,80173,9,26980434,26980435,Intron,INS,-,TA,,5,9,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TMEFF1,8577,9,103310175,103310176,Splice_Site,INS,-,AT,c.e6+1,3,13,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,RNF20,56254,9,104314829,104314829,Frame_Shift_Del,DEL,T,-,c.(1693-1695)gatfs,4,20,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ABCA1,19,9,107586671,107586671,Intron,DEL,C,-,,5,39,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,GPR21,2844,9,125797325,125797332,Frame_Shift_Del,DEL,CTTCCTGC,-,c.(478-489)gtcttcctgcctfs,4,33,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,PPP6C,5537,9,127941040,127941041,Intron,INS,-,AG,,4,8,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,CDC123,8872,10,12277184,12277185,Intron,INS,-,A,,5,6,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,NMT2,9397,10,15183402,15183403,Intron,INS,-,G,,3,13,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ANKRD30A,91074,10,37627048,37627049,Intron,INS,-,A,,3,20,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,HNRNPH3,3189,10,70101491,70101492,Intron,INS,-,A,,3,3,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TMEM9B,56674,11,8974629,8974630,Intron,INS,-,A,,3,10,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,LUZP2,338645,11,24927520,24927521,Intron,DEL,TA,-,,3,20,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,PRG2,5553,11,57157485,57157485,Intron,DEL,T,-,,4,6,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,PHOX2A,401,11,71951176,71951181,In_Frame_Del,DEL,CCGCGC,-,c.(466-474)ggcgcggcg>gcg,63,395,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,DYNC2H1,79659,11,103023059,103023060,Intron,INS,-,AC,,4,3,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,NPAT,4863,11,108061073,108061074,Intron,INS,-,C,,3,8,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ARHGAP20,57569,11,110494889,110494890,Frame_Shift_Ins,INS,-,T,c.(499-501)ttcfs,4,24,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,USP28,57646,11,113725056,113725057,Splice_Site,INS,-,TG,c.(58-60)agc>aCAgc,5,30,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,Unknown,0,12,9555020,9555021,IGR,INS,-,A,,4,3,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SENP1,29843,12,48477362,48477363,Intron,INS,-,A,,4,22,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SCN8A,6334,12,52106487,52106488,Intron,INS,-,T,,4,16,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,NAP1L1,4673,12,76442157,76442158,3'UTR,INS,-,T,,3,6,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,METTL25,84190,12,82792722,82792722,Frame_Shift_Del,DEL,G,-,c.(679-681)tgtfs,3,24,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,MYBPC1,4604,12,102053696,102053697,Intron,DEL,AT,-,,3,21,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SYCP3,50511,12,102122880,102122881,Intron,INS,-,T,,3,24,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,HSP90B1,7184,12,104341113,104341115,In_Frame_Del,DEL,CCT,-,c.(2287-2289)cctdel,6,25,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TXNRD1,7296,12,104713469,104713470,Intron,INS,-,CA,,4,6,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,B3GALTL,145173,13,31850979,31850980,Intron,INS,-,AT,,3,12,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,Unknown,0,14,20996330,20996332,IGR,DEL,TCA,-,,4,9,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,DAAM1,23002,14,59793596,59793597,Intron,INS,-,A,,3,11,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,PROX2,283571,14,75325216,75325217,Intron,INS,-,GG,,3,15,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,HSP90AA1,3320,14,102550432,102550433,Intron,INS,-,GG,,2,6,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,PPP1R13B,23368,14,104223943,104223943,Intron,DEL,G,-,,3,8,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TMEM87A,25963,15,42556260,42556261,Intron,INS,-,A,,3,12,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,MFAP1,4236,15,44102128,44102129,Intron,INS,-,T,,3,12,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,SLC12A1,6557,15,48513103,48513104,Intron,INS,-,A,,3,15,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,AP4E1,23431,15,51207652,51207652,Frame_Shift_Del,DEL,T,-,c.(229-231)atgfs,5,31,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,DENND4A,10260,15,66063820,66063820,Intron,DEL,A,-,,6,32,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TM2D3,80213,15,102192058,102192059,Intron,INS,-,A,,3,7,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,COQ7,10229,16,19088751,19088753,Intron,DEL,AGG,-,,4,11,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,CHD9,80205,16,53272458,53272459,Frame_Shift_Ins,INS,-,G,c.(2836-2841)caaatgfs,4,22,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,C1QBP,708,17,5335030,5335031,IGR,INS,-,C,,4,12,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,COIL,8161,17,55028040,55028041,Frame_Shift_Ins,INS,-,G,c.(562-564)aagfs,5,30,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,NPC1,4864,18,21112331,21112332,Intron,INS,-,CAG,,4,40,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ZCCHC2,54877,18,60209697,60209697,Intron,DEL,T,-,,3,14,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ATCAY,85300,19,3895253,3895254,Intron,INS,-,C,,3,65,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ZNF563,147837,19,12429319,12429320,3'UTR,INS,-,ACC,,3,0,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ZNF791,163049,19,12738547,12738548,Frame_Shift_Ins,INS,-,T,c.(205-207)gagfs,5,4,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ZNF540,163255,19,38090606,38090607,Frame_Shift_Del,DEL,TG,-,c.(88-90)ttgfs,3,21,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,CD37,951,19,49840834,49840835,Intron,INS,-,C,,3,13,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,ZNF83,55769,19,53099943,53099944,Intron,INS,-,A,,3,1,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,C20orf26,0,20,20177161,20177162,Intron,INS,-,TG,,4,14,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,TMPRSS2,7113,21,42839609,42839611,Intron,DEL,CTT,-,,3,7,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,MRPL40,64976,22,19422425,19422426,Intron,INS,-,CTA,,6,3,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,BMS1P20,96610,22,22662989,22662989,RNA,DEL,T,-,,4,3,,
RP-1532_PCProject_0041_T1_v3_Exome_OnPrem,XPNPEP3,63929,22,41320626,41320627,Intron,INS,-,A,,3,8,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,CAMTA1,23261,1,7721808,7721808,Silent,SNP,C,T,c.(685-687)tgC>tgT,9,69,0,71
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,GJB4,127534,1,35227245,35227245,Silent,SNP,G,A,c.(388-390)acG>acA,6,184,1,194
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,KIAA1107,23285,1,92643066,92643066,Missense_Mutation,SNP,G,A,c.(1000-1002)atG>atA,3,8,0,35
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,MOV10,4343,1,113240696,113240696,Missense_Mutation,SNP,G,A,c.(2278-2280)cGa>cAa,6,311,0,126
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,F5,2153,1,169510469,169510469,Silent,SNP,G,A,c.(3859-3861)Cta>Tta,7,165,0,239
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,TNR,7143,1,175332896,175332896,Silent,SNP,G,A,c.(2653-2655)agC>agT,4,56,0,74
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,KCNH1,3756,1,211280672,211280672,Missense_Mutation,SNP,C,T,c.(127-129)Gtg>Atg,4,74,0,99
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ATAD2B,54454,2,24111231,24111231,Missense_Mutation,SNP,T,G,c.(406-408)cAt>cCt,4,51,0,87
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ZNF514,84874,2,95816023,95816023,Intron,SNP,A,G,,3,1,0,22
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,RGPD3,653489,2,107084690,107084690,Missense_Mutation,SNP,C,T,c.(55-57)Gcc>Acc,5,184,0,192
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,TTN,7273,2,179548741,179548741,Missense_Mutation,SNP,C,T,c.(31840-31842)Gaa>Aaa,5,44,0,54
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,CWC22,57703,2,180851422,180851422,Splice_Site,SNP,C,T,c.(205-207)cGa>cAa,4,58,1,43
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,BOLL,66037,2,198593201,198593201,3'UTR,SNP,C,T,,4,55,0,81
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ATG4B,23192,2,242577099,242577099,5'UTR,SNP,G,A,,5,116,0,91
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,NUP210,23225,3,13360771,13360771,Missense_Mutation,SNP,G,A,c.(5437-5439)aCg>aTg,5,98,0,96
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,MST1R,4486,3,49940860,49940860,Silent,SNP,G,A,c.(181-183)taC>taT,5,158,0,154
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,SIDT1,54847,3,113342360,113342360,Missense_Mutation,SNP,C,G,c.(2176-2178)gCc>gGc,15,107,0,152
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,IFT122,55764,3,129178171,129178171,Intron,SNP,T,C,,6,112,0,48
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,AC104472.1,0,3,155461315,155461315,Missense_Mutation,SNP,C,T,c.(76-78)cGg>cAg,8,179,0,61
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,DVL3,1857,3,183874191,183874191,Intron,SNP,G,A,,5,249,0,184
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,MUC4,4585,3,195516616,195516616,Missense_Mutation,SNP,G,A,c.(1834-1836)aCg>aTg,6,132,0,199
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,MANBA,4126,4,103675139,103675139,Intron,SNP,G,A,,5,76,1,42
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ABCE1,6059,4,146031300,146031300,Missense_Mutation,SNP,G,A,c.(451-453)Gaa>Aaa,4,52,0,46
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,OTUD4,54726,4,146065474,146065474,Missense_Mutation,SNP,C,T,c.(1534-1536)cGa>cAa,5,59,0,86
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,MAST4,375449,5,66448645,66448645,Missense_Mutation,SNP,G,A,c.(3475-3477)cGg>cAg,5,97,0,144
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,DHFR,1719,5,79945913,79945913,Intron,SNP,A,G,,4,49,0,73
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,HSPA9,3313,5,137909466,137909466,Missense_Mutation,SNP,C,T,c.(214-216)Ggt>Agt,5,230,0,171
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,CDHR2,54825,5,176004426,176004426,Silent,SNP,G,A,c.(1219-1221)tcG>tcA,5,83,0,66
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,BAK1,578,6,33543176,33543176,Silent,SNP,G,A,c.(247-249)gaC>gaT,6,161,0,174
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,PPARD,5467,6,35391922,35391922,Silent,SNP,G,A,c.(622-624)acG>acA,4,61,0,81
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,CUL7,9820,6,43006731,43006731,Intron,SNP,C,T,,11,58,0,100
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,MYO6,4646,6,76599952,76599952,Missense_Mutation,SNP,G,A,c.(2836-2838)cGt>cAt,5,99,0,156
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,TTLL2,83887,6,167752266,167752266,Missense_Mutation,SNP,G,A,c.(178-180)cGc>cAc,7,42,0,39
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,Y_RNA,0,7,23530553,23530553,RNA,SNP,G,A,,5,163,0,187
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,NACAD,23148,7,45120340,45120340,Silent,SNP,G,A,c.(4573-4575)Ctg>Ttg,5,139,0,127
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ZNF727,442319,7,63538824,63538824,Missense_Mutation,SNP,G,A,c.(1396-1398)aGc>aAc,4,50,0,80
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ATP5J2,9551,7,99056850,99056850,Missense_Mutation,SNP,T,G,c.(175-177)aAg>aCg,19,112,0,101
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,EPHA1,2041,7,143098605,143098605,Missense_Mutation,SNP,G,A,c.(244-246)Cgc>Tgc,5,191,0,171
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,XKR6,286046,8,10892788,10892788,Intron,SNP,G,A,,6,143,1,135
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,KAT6A,7994,8,41906365,41906365,Missense_Mutation,SNP,C,T,c.(130-132)cGt>cAt,5,191,0,142
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,SLC7A13,157724,8,87227844,87227844,Intron,SNP,A,G,,4,45,0,42
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,TAF2,6873,8,120754867,120754867,Nonsense_Mutation,SNP,G,A,c.(3244-3246)Cga>Tga,5,214,0,166
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,NDST2,8509,10,75562487,75562487,Missense_Mutation,SNP,T,G,c.(2470-2472)aAg>aCg,12,110,0,115
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,CYP2C9,1559,10,96698446,96698446,Missense_Mutation,SNP,T,C,c.(7-9)Tct>Cct,5,38,0,90
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,SUFU,51684,10,104359295,104359295,Missense_Mutation,SNP,G,A,c.(1015-1017)cGg>cAg,5,294,0,208
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,LHPP,64077,10,126205830,126205830,Missense_Mutation,SNP,G,A,c.(706-708)Ggg>Agg,4,97,0,29
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ST5,6764,11,8752513,8752513,Silent,SNP,C,T,c.(322-324)gcG>gcA,5,177,0,133
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,TSG101,7251,11,18505433,18505433,Missense_Mutation,SNP,C,T,c.(826-828)cGt>cAt,5,81,0,122
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,AHNAK,79026,11,62292327,62292327,Missense_Mutation,SNP,C,T,c.(9562-9564)Gtt>Att,5,146,1,177
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,TMTC1,83857,12,29812811,29812811,Intron,SNP,A,T,,17,59,0,76
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,GPR182,11318,12,57389982,57389982,Missense_Mutation,SNP,G,A,c.(988-990)cGg>cAg,4,75,0,125
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,TPP2,7174,13,103260046,103260046,Intron,SNP,T,C,,4,83,0,33
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,COL4A1,1282,13,110839540,110839540,Missense_Mutation,SNP,G,A,c.(1672-1674)gCg>gTg,5,92,0,107
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ZFHX2,85446,14,24003808,24003808,Missense_Mutation,SNP,G,A,c.(727-729)Cgc>Tgc,4,118,0,168
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,DLGAP5,9787,14,55615317,55615317,Intron,SNP,G,A,,5,58,0,47
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,SIX4,51804,14,61183855,61183855,Intron,SNP,T,C,,5,46,0,28
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,EFCAB11,90141,14,90397973,90397973,Missense_Mutation,SNP,G,A,c.(322-324)Cgt>Tgt,5,68,0,72
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,GOLGA6L1,283767,15,22743214,22743214,Silent,SNP,G,A,c.(1447-1449)cgG>cgA,7,365,0,902
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,TP53BP1,7158,15,43700183,43700183,Missense_Mutation,SNP,C,T,c.(5689-5691)Gca>Aca,4,56,0,62
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,MYO5A,4644,15,52632401,52632401,Missense_Mutation,SNP,C,T,c.(4231-4233)Gaa>Aaa,5,162,0,147
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,UBN1,29855,16,4909943,4909943,Silent,SNP,G,A,c.(643-645)tcG>tcA,5,141,0,116
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,RBBP6,5930,16,24583093,24583093,Missense_Mutation,SNP,G,A,c.(4705-4707)cGt>cAt,5,46,0,89
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,KIAA0895L,653319,16,67213358,67213358,Silent,SNP,C,T,c.(820-822)ttG>ttA,4,65,0,43
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ZNF469,84627,16,88503583,88503583,Silent,SNP,G,A,c.(9619-9621)gcG>gcA,5,161,0,130
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,VPS9D1,9605,16,89784449,89784449,Intron,SNP,A,C,,4,90,1,98
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,DLG4,1742,17,7094664,7094664,Missense_Mutation,SNP,G,A,c.(1990-1992)Cgg>Tgg,5,164,0,105
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,SLC35G6,643664,17,7385636,7385636,Silent,SNP,C,T,c.(331-333)aaC>aaT,8,420,0,259
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,PIK3R6,146850,17,8725949,8725949,Silent,SNP,G,A,c.(1741-1743)ggC>ggT,8,58,0,122
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,STX8,9482,17,9471725,9471725,Missense_Mutation,SNP,C,T,c.(79-81)cGa>cAa,5,73,0,71
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,CDC6,990,17,38447412,38447412,Missense_Mutation,SNP,G,A,c.(280-282)cGa>cAa,6,100,0,133
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,WNK4,65266,17,40945932,40945932,Intron,SNP,A,G,,4,61,0,34
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,RP11-1055B8.7,0,17,79411731,79411731,Silent,SNP,C,T,c.(2548-2550)ccC>ccT,4,95,0,69
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,KLHL14,57565,18,30260129,30260129,Intron,SNP,G,T,,4,10,0,45
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,PIGN,23556,18,59770050,59770050,Missense_Mutation,SNP,C,T,c.(1945-1947)Gag>Aag,4,26,0,52
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,NFIC,4782,19,3381904,3381904,Silent,SNP,G,A,c.(223-225)cgG>cgA,6,294,0,170
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,CARM1,10498,19,11019869,11019869,Missense_Mutation,SNP,G,A,c.(544-546)Gac>Aac,8,175,0,123
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ISYNA1,51477,19,18546463,18546463,Silent,SNP,G,A,c.(1162-1164)taC>taT,6,194,0,134
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ZNF708,7562,19,21476519,21476519,Missense_Mutation,SNP,T,C,c.(1249-1251)Aag>Gag,4,23,0,66
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ZNF850,342892,19,37240760,37240760,Silent,SNP,A,G,c.(1180-1182)gaT>gaC,5,57,1,101
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,DYRK1B,9149,19,40320539,40320539,Silent,SNP,C,T,c.(499-501)acG>acA,5,95,0,70
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ZNF574,64763,19,42584139,42584139,Missense_Mutation,SNP,G,A,c.(1381-1383)Gct>Act,5,89,0,103
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,SPHK2,56848,19,49131495,49131495,Missense_Mutation,SNP,C,T,c.(832-834)tCg>tTg,14,83,0,64
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,NUP62,23636,19,50410836,50410836,3'UTR,SNP,T,C,,5,57,0,50
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ZNF814,730051,19,58385832,58385832,Missense_Mutation,SNP,A,G,c.(925-927)gTt>gCt,4,37,0,114
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ZNF814,730051,19,58385849,58385849,Silent,SNP,T,C,c.(907-909)aaA>aaG,3,33,0,82
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ANKEF1,63926,20,10030357,10030357,Silent,SNP,C,T,c.(1138-1140)caC>caT,4,72,0,109
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,TMPRSS15,5651,21,19737484,19737484,Missense_Mutation,SNP,G,T,c.(745-747)aCa>aAa,13,91,0,157
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,KRTAP10-1,386677,21,45959229,45959229,Missense_Mutation,SNP,C,T,c.(805-807)Gtg>Atg,9,39,0,86
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,SHROOM4,57477,X,50377343,50377343,Missense_Mutation,SNP,C,T,c.(1729-1731)cGc>cAc,5,145,0,98
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,OPHN1,4983,X,67652821,67652821,Silent,SNP,G,A,c.(40-42)gaC>gaT,4,39,0,34
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,MAGI3,260425,1,113993142,113993143,Intron,INS,-,GC,,4,2,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,GBA,2629,1,155209338,155209341,Intron,DEL,TTTT,-,,4,38,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,VANGL2,57216,1,160390119,160390120,Intron,INS,-,T,,3,11,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,Unknown,0,1,208440786,208440787,IGR,INS,-,T,,16,52,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ZNF678,339500,1,227786379,227786379,Intron,DEL,A,-,,6,27,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,CAMKMT,79823,2,44934640,44934642,Intron,DEL,ATT,-,,4,14,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,VRK2,7444,2,58373638,58373639,Intron,INS,-,GAT,,3,6,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,MAP4,4134,3,48040290,48040291,Frame_Shift_Del,DEL,TC,-,c.(58-63)gagatafs,20,154,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,SLC30A5,64924,5,68408854,68408854,Intron,DEL,A,-,,0,1,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,TENM2,57451,5,167626836,167626838,Intron,DEL,TAG,-,,3,5,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,SYNGAP1,8831,6,33415874,33415875,Intron,DEL,TT,-,,3,1,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,NRG1,3084,8,32607160,32607160,Intron,DEL,T,-,,3,8,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,VPS13A,23230,9,79966455,79966455,Intron,DEL,T,-,,5,20,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,C12orf77,196415,12,25148766,25148767,Frame_Shift_Ins,INS,-,G,c.(379-384)tggagafs,4,19,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,OCA2,4948,15,28116554,28116555,Intron,INS,-,T,,3,5,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,VWA3A,146177,16,22127804,22127805,Intron,DEL,AG,-,,3,4,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,FUS,2521,16,31199560,31199561,Intron,DEL,CC,-,,7,36,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,BRCA1,672,17,41256040,41256041,Intron,INS,-,A,,3,11,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,ZNF383,163087,19,37721440,37721441,Intron,DEL,TA,-,,1,8,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,Unknown,0,20,48346045,48346046,IGR,INS,-,A,,3,2,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,SCUBE1,80274,22,43651437,43651440,Intron,DEL,TGTG,-,,4,17,,
RP-1532_PCProject_0048_T1_v3_Exome_OnPrem,MAGEC1,9947,X,140994746,140994747,Frame_Shift_Ins,INS,-,C,c.(1555-1560)agtcctfs,3,19,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SPATA21,374955,1,16751610,16751610,Intron,SNP,T,C,,6,43,0,24
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PADI4,23569,1,17660831,17660831,Intron,SNP,C,T,,7,88,0,50
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NBPF3,84224,1,21806606,21806606,Missense_Mutation,SNP,T,G,c.(1270-1272)tTt>tGt,13,223,0,264
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RCC1,1104,1,28832807,28832807,Intron,SNP,G,C,,12,203,0,64
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RBBP4,5928,1,33139161,33139161,Intron,SNP,T,C,,6,37,0,21
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,YARS,8565,1,33245074,33245074,Missense_Mutation,SNP,G,A,c.(1384-1386)gCt>gTt,6,86,0,136
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C1orf109,54955,1,38155911,38155911,5'UTR,SNP,T,C,,9,104,0,46
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CYB5RL,606495,1,54645768,54645768,Intron,SNP,A,G,,6,88,0,49
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,HHLA3,11147,1,70833318,70833318,3'UTR,SNP,A,G,,5,146,0,77
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,HHLA3,11147,1,70833334,70833334,3'UTR,SNP,A,T,,7,112,0,63
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PTGER3,5733,1,71349660,71349660,Intron,SNP,A,G,,4,47,0,28
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,BTBD8,284697,1,92595329,92595329,Missense_Mutation,SNP,C,G,c.(748-750)Caa>Gaa,4,66,0,114
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MAGI3,260425,1,114161184,114161184,Silent,SNP,A,G,c.(1105-1107)caA>caG,6,96,1,54
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NBPF14,25832,1,148009500,148009500,Silent,SNP,A,G,c.(1807-1809)Ttg>Ctg,19,983,1,1220
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,IL6R,3570,1,154410028,154410028,Intron,SNP,C,T,,8,105,1,43
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DAP3,7818,1,155701824,155701824,Splice_Site,SNP,G,A,c.(991-993)aaG>aaA,10,162,0,143
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CASQ1,844,1,160162688,160162688,Intron,SNP,G,T,,22,85,0,48
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ANKRD45,339416,1,173626487,173626487,Intron,SNP,A,G,,4,62,0,21
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CENPL,91687,1,173775686,173775686,Intron,SNP,T,C,,5,126,1,70
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NPL,80896,1,182778394,182778394,Intron,SNP,C,A,,4,51,0,29
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NPL,80896,1,182778412,182778412,Intron,SNP,A,G,,4,35,0,21
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C4BPB,725,1,207268762,207268762,Intron,SNP,A,G,,6,103,0,67
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SYT14,255928,1,210139317,210139317,Intron,SNP,A,G,,9,166,0,92
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,Unknown,0,1,211832028,211832028,IGR,SNP,T,C,,8,178,0,72
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF678,339500,1,227843257,227843257,Missense_Mutation,SNP,A,G,c.(1306-1308)Aaa>Gaa,6,81,0,93
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,EDARADD,128178,1,236645705,236645705,Missense_Mutation,SNP,C,T,c.(403-405)aCg>aTg,5,34,0,41
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF695,57116,1,247150416,247150416,Missense_Mutation,SNP,T,A,c.(1399-1401)gaA>gaT,5,78,0,93
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LCLAT1,253558,2,30828979,30828979,Intron,SNP,C,T,,6,50,0,54
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LCLAT1,253558,2,30828995,30828995,Intron,SNP,T,A,,5,31,0,39
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,STRN,6801,2,37195642,37195642,5'Flank,SNP,C,T,,6,66,0,33
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GALM,130589,2,38907294,38907294,Intron,SNP,A,G,,5,56,0,25
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MCFD2,90411,2,47144389,47144389,Intron,SNP,C,A,,6,198,0,100
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FAM161A,84140,2,62052972,62052972,3'UTR,SNP,T,C,,4,16,0,20
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MOGS,7841,2,74688533,74688533,Missense_Mutation,SNP,C,T,c.(2383-2385)Gta>Ata,31,190,0,136
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GALNT13,114805,2,155294134,155294134,Intron,SNP,C,T,,4,74,0,37
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GALNT13,114805,2,155294185,155294185,Intron,SNP,A,G,,6,71,0,41
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LY75,4065,2,160706588,160706588,Missense_Mutation,SNP,G,C,c.(3052-3054)gCc>gGc,6,45,0,113
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DFNB59,494513,2,179323305,179323305,Silent,SNP,C,T,c.(616-618)acC>acT,6,103,0,136
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RPE,6120,2,210882559,210882559,Intron,SNP,G,C,,7,168,0,54
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CPS1,1373,2,211457632,211457632,Silent,SNP,C,T,c.(1114-1116)ttC>ttT,17,88,0,196
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DAW1,164781,2,228777070,228777070,Intron,SNP,G,T,,5,125,0,67
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,Unknown,0,2,230889615,230889615,IGR,SNP,A,G,,5,81,0,23
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SLC16A14,151473,2,230931445,230931445,Intron,SNP,A,G,,7,90,0,46
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MTMR14,64419,3,9701415,9701415,Intron,SNP,T,C,,8,232,0,149
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FANCD2OS,115795,3,10144679,10144679,Intron,SNP,C,G,,6,85,0,42
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FANCD2OS,115795,3,10144680,10144680,Intron,SNP,G,C,,9,85,0,43
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C3orf83,0,3,12580743,12580743,IGR,SNP,A,C,,4,43,0,21
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SETD2,29072,3,47147209,47147209,Intron,SNP,G,A,,7,112,0,60
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,WDR6,11180,3,49048882,49048882,Intron,SNP,A,G,,8,133,1,66
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,USP4,7375,3,49349950,49349950,Intron,SNP,A,G,,6,296,0,78
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CACNA2D2,9254,3,50416526,50416526,Silent,SNP,C,T,c.(1255-1257)cgG>cgA,6,130,0,87
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CACNA2D2,9254,3,50416544,50416544,Silent,SNP,C,T,c.(1237-1239)aaG>aaA,6,147,0,97
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C3orf18,51161,3,50599939,50599939,Intron,SNP,T,C,,8,206,0,139
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RYBP,23429,3,72428429,72428429,Nonsense_Mutation,SNP,G,C,c.(571-573)taC>taG,3,13,0,19
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,EPHA3,2042,3,89480469,89480469,Missense_Mutation,SNP,G,C,c.(2305-2307)cGt>cCt,5,29,0,115
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LRRC58,116064,3,120053838,120053838,Missense_Mutation,SNP,G,A,c.(778-780)Cca>Tca,5,68,0,124
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LRRC58,116064,3,120067928,120067928,Missense_Mutation,SNP,G,C,c.(163-165)Cgt>Ggt,11,567,0,150
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CEP63,80254,3,134293705,134293705,Missense_Mutation,SNP,G,C,c.(1399-1401)cGt>cCt,4,48,0,27
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PCCB,5096,3,135979186,135979186,Intron,SNP,T,C,,12,66,1,38
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,IL20RB,53833,3,136705588,136705588,Intron,SNP,A,G,,7,88,0,63
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,APOD,347,3,195303930,195303930,Intron,SNP,T,C,,4,31,0,18
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SLC51A,200931,3,195950793,195950793,Intron,SNP,T,C,,7,104,0,45
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TM4SF19,116211,3,196046881,196046881,Intron,SNP,T,C,,5,24,0,18
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF595,152687,4,86054,86054,3'UTR,SNP,G,A,,6,15,0,43
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF595,152687,4,86169,86169,3'UTR,SNP,G,A,,5,94,0,174
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF595,152687,4,87092,87092,3'UTR,SNP,C,T,,7,74,1,66
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF732,654254,4,265458,265458,Silent,SNP,T,G,c.(1186-1188)ggA>ggC,4,16,1,43
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C4orf19,55286,4,37462523,37462523,Intron,SNP,A,G,,9,120,1,44
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,THAP6,152815,4,76474815,76474815,Splice_Site,SNP,G,A,c.(244-246)Ggt>Agt,13,191,0,71
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CXCL9,4283,4,76924834,76924834,Missense_Mutation,SNP,G,T,c.(295-297)Caa>Aaa,4,57,0,72
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ART3,419,4,77020242,77020242,Intron,SNP,C,G,,5,72,0,45
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,OSTC,58505,4,109584406,109584406,Intron,SNP,T,C,,5,66,1,55
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,COL25A1,84570,4,109971337,109971337,Splice_Site,SNP,T,C,c.e4-2,4,43,0,80
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SEC24B,10427,4,110370651,110370651,Intron,SNP,T,G,,9,288,0,162
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ADAD1,132612,4,123336685,123336685,Silent,SNP,G,A,c.(1399-1401)ttG>ttA,9,62,0,117
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RAPGEF2,9693,4,160273887,160273887,Missense_Mutation,SNP,C,T,c.(3433-3435)Cac>Tac,5,43,0,100
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GALNTL6,442117,4,173961133,173961133,Missense_Mutation,SNP,C,T,c.(1687-1689)cCc>cTc,4,49,0,58
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PDZD2,23037,5,32087610,32087610,Missense_Mutation,SNP,G,T,c.(4054-4056)caG>caT,4,57,1,78
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CTD-2117L12.1,0,5,57843103,57843103,Silent,SNP,A,G,c.(118-120)taT>taC,6,25,0,22
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CTD-2337A12.1,0,5,95865577,95865577,RNA,SNP,T,G,,4,59,0,58
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FBXL17,64839,5,107717056,107717056,Missense_Mutation,SNP,C,T,c.(337-339)Gcc>Acc,8,475,0,72
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SLC12A2,6558,5,127419929,127419929,Missense_Mutation,SNP,G,A,c.(283-285)Gct>Act,43,114,0,22
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PCDHB5,26167,5,140516916,140516916,Missense_Mutation,SNP,G,A,c.(1900-1902)Gcg>Acg,16,841,0,543
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PCDHB6,56130,5,140531173,140531173,Silent,SNP,C,T,c.(1333-1335)aaC>aaT,15,455,1,290
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PCDHGA6,56109,5,140755539,140755539,Missense_Mutation,SNP,G,A,c.(1888-1890)cGc>cAc,10,425,1,241
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FAM71B,153745,5,156590507,156590507,Missense_Mutation,SNP,C,T,c.(769-771)Gct>Act,6,163,0,162
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DPCR1,135656,6,30918839,30918839,Missense_Mutation,SNP,G,C,c.(2596-2598)tgG>tgC,6,242,1,140
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ORC3,23595,6,88311536,88311536,Missense_Mutation,SNP,G,T,c.(112-114)gaG>gaT,4,69,0,68
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ASCC3,10973,6,100960692,100960692,Missense_Mutation,SNP,T,C,c.(6178-6180)Act>Gct,16,129,0,211
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TRDN,10345,6,123957928,123957928,De_novo_Start_InFrame,SNP,G,A,,4,51,0,79
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ENPP3,5169,6,131959646,131959646,Intron,SNP,T,C,,5,185,0,82
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PCMT1,5110,6,150086887,150086887,Intron,SNP,A,G,,5,44,0,25
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PACRG,135138,6,163733919,163733919,Missense_Mutation,SNP,A,G,c.(721-723)gAg>gGg,6,44,0,22
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,IQCE,23288,7,2612458,2612458,Intron,SNP,A,G,,4,59,0,39
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DNAH11,8701,7,21813462,21813462,Nonsense_Mutation,SNP,C,T,c.(9181-9183)Cag>Tag,5,46,0,68
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF727,442319,7,63538824,63538824,Missense_Mutation,SNP,G,A,c.(1396-1398)aGc>aAc,7,72,1,101
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,Unknown,0,7,63680569,63680569,IGR,SNP,A,C,,5,108,0,128
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF107,51427,7,64167689,64167689,Missense_Mutation,SNP,T,C,c.(1006-1008)gTc>gCc,5,57,0,62
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CPSF4,10898,7,99045396,99045396,Intron,SNP,A,T,,8,212,0,55
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MYL10,93408,7,101272318,101272318,Intron,SNP,T,C,,6,112,1,54
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,METTL2B,55798,7,128142679,128142679,3'UTR,SNP,A,G,,7,223,0,95
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,METTL2B,55798,7,128142681,128142681,3'UTR,SNP,G,A,,8,218,0,94
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,METTL2B,55798,7,128142723,128142723,3'UTR,SNP,C,T,,7,76,0,46
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,METTL2B,55798,7,128142724,128142724,3'UTR,SNP,G,A,,5,78,1,42
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FDFT1,2222,8,11659426,11659426,5'Flank,SNP,T,C,,6,92,1,69
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TNFRSF10B,8795,8,22878130,22878130,3'UTR,SNP,A,G,,4,61,0,36
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ADRA1A,148,8,26606185,26606185,Missense_Mutation,SNP,T,G,c.(1348-1350)agA>agC,6,61,0,35
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ADRA1A,148,8,26606262,26606262,Missense_Mutation,SNP,T,C,c.(1273-1275)Aag>Gag,5,87,0,35
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,XKR9,389668,8,71595816,71595816,Intron,SNP,T,G,,9,323,0,129
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TRPA1,8989,8,72938260,72938260,Missense_Mutation,SNP,G,A,c.(2986-2988)Cgc>Tgc,8,32,0,140
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LRRC69,100130742,8,92130460,92130460,Intron,SNP,C,T,,5,115,1,87
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FAM92A1,137392,8,94736803,94736803,Intron,SNP,G,C,,5,138,0,68
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CCNE2,9134,8,95906195,95906195,Intron,SNP,G,A,,4,65,0,53
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,Unknown,0,8,101669991,101669991,IGR,SNP,T,C,,9,302,0,117
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PTK2,5747,8,141670709,141670709,Intron,SNP,A,C,,10,343,0,112
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LY6K,54742,8,143781914,143781914,5'UTR,SNP,G,A,,12,371,0,86
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF696,79943,8,144377556,144377556,Intron,SNP,A,G,,8,286,1,132
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,IFNE,338376,9,21481470,21481470,Missense_Mutation,SNP,C,T,c.(223-225)gGa>gAa,4,52,0,121
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RUSC2,9853,9,35560391,35560391,Missense_Mutation,SNP,G,A,c.(3754-3756)Gag>Aag,36,176,0,89
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C5,727,9,123762229,123762229,Intron,SNP,T,C,,5,53,0,40
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RABGAP1,23637,9,125748624,125748624,Silent,SNP,C,T,c.(514-516)tcC>tcT,4,62,0,165
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CCBL1,883,9,131604449,131604449,Intron,SNP,A,G,,10,150,1,59
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SARDH,1757,9,136590604,136590604,Intron,SNP,T,G,,8,178,0,73
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SARDH,1757,9,136590621,136590621,Intron,SNP,T,C,,7,250,0,76
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ARMC4,55130,10,28142189,28142189,Intron,SNP,A,G,,5,37,0,23
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PARD3,56288,10,34400200,34400200,Missense_Mutation,SNP,G,A,c.(3967-3969)cCt>cTt,5,34,1,50
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NCOA4,8031,10,51580976,51580976,Intron,SNP,C,A,,6,39,1,59
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF365,22891,10,64403687,64403687,Start_Codon_SNP,SNP,T,C,c.(1-3)aTg>aCg,9,67,0,96
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,EIF3A,8661,10,120810710,120810710,Splice_Site,SNP,C,T,c.e15+1,4,20,0,25
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LDLRAD3,143458,11,36123502,36123502,Intron,SNP,A,G,,5,39,0,19
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ARHGAP1,392,11,46699479,46699479,3'UTR,SNP,C,T,,10,265,1,60
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ASRGL1,80150,11,62156659,62156659,Silent,SNP,C,T,c.(544-546)taC>taT,6,163,0,123
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SLC3A2,6520,11,62644260,62644260,Intron,SNP,A,G,,8,162,0,50
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SLC3A2,6520,11,62644333,62644333,Intron,SNP,G,C,,7,173,0,56
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C11orf80,79703,11,66523868,66523868,Missense_Mutation,SNP,G,A,c.(361-363)Gtc>Atc,5,75,0,32
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CARNS1,57571,11,67191613,67191613,Silent,SNP,C,T,c.(2023-2025)aaC>aaT,51,181,0,117
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SHANK2,22941,11,70754098,70754098,Intron,SNP,T,C,,5,112,0,49
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TMEM135,65084,11,86988442,86988442,Intron,SNP,A,G,,5,24,0,19
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SDHD,6392,11,111963916,111963916,Intron,SNP,A,G,,6,115,0,43
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TMPRSS4-AS1,100526771,11,117896399,117896399,RNA,SNP,A,G,,5,98,0,74
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GALNT8,26290,12,4881706,4881706,Silent,SNP,G,A,c.(1855-1857)acG>acA,12,59,0,120
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NANOGNB,360030,12,7917892,7917892,Missense_Mutation,SNP,C,T,c.(10-12)gCg>gTg,8,168,0,78
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NANOGNB,360030,12,7917895,7917895,Missense_Mutation,SNP,G,A,c.(13-15)cGg>cAg,8,149,1,71
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NANOGNB,360030,12,7917905,7917905,Silent,SNP,G,A,c.(22-24)acG>acA,10,135,0,64
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PRB2,653247,12,11546771,11546771,Missense_Mutation,SNP,G,C,c.(241-243)Cca>Gca,4,34,1,80
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PKP2,5318,12,32996206,32996206,Missense_Mutation,SNP,C,T,c.(1420-1422)Gcg>Acg,7,126,0,73
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PKP2,5318,12,32996210,32996210,Silent,SNP,C,T,c.(1414-1416)ccG>ccA,5,136,0,76
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PKP2,5318,12,32996211,32996211,Missense_Mutation,SNP,G,A,c.(1414-1416)cCg>cTg,5,140,0,79
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SLC48A1,55652,12,48174380,48174380,3'UTR,SNP,T,C,,6,56,1,42
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SLC48A1,55652,12,48174625,48174625,3'UTR,SNP,T,C,,9,180,0,73
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TUBA1C,84790,12,49651722,49651722,Intron,SNP,G,A,,5,44,0,11
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TENC1,23371,12,53447241,53447241,Intron,SNP,C,T,,24,113,0,67
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,METTL21B,25895,12,58177400,58177400,IGR,SNP,G,A,,12,402,0,150
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MDM2,4193,12,69209442,69209442,Intron,SNP,G,C,,7,175,0,58
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CTD-2021H9.3,0,12,71511870,71511870,Silent,SNP,T,G,c.(91-93)ggA>ggC,6,81,0,80
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PLXNC1,10154,12,94671892,94671892,Intron,SNP,T,C,,4,64,0,58
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TCTN1,79600,12,111072238,111072238,Intron,SNP,C,T,,7,114,0,81
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,COQ5,84274,12,120961705,120961705,Intron,SNP,C,T,,5,143,0,55
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GALNT9,50614,12,132839163,132839163,Silent,SNP,G,T,c.(466-468)gtC>gtA,10,220,0,91
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF268,10795,12,133761327,133761327,Intron,SNP,T,C,,9,191,0,71
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZDHHC20,253832,13,21949189,21949189,IGR,SNP,A,C,,4,43,0,40
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TPTE2P1,646405,13,25516213,25516213,RNA,SNP,A,G,,6,155,0,40
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NALCN,259232,13,102029275,102029275,Missense_Mutation,SNP,T,C,c.(508-510)Att>Gtt,6,33,0,71
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TPP2,7174,13,103260046,103260046,Intron,SNP,T,C,,6,232,0,70
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C14orf23,387978,14,29282228,29282228,Missense_Mutation,SNP,A,G,c.(172-174)Act>Gct,6,49,0,26
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,AP4S1,11154,14,31552823,31552823,Intron,SNP,A,G,,8,166,1,63
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,KLHDC1,122773,14,50166846,50166846,Intron,SNP,C,G,,3,14,0,12
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RAD51B,5890,14,69061281,69061281,Silent,SNP,A,G,c.(1114-1116)ctA>ctG,10,258,0,100
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ADCK1,57143,14,78294264,78294264,Intron,SNP,T,C,,6,66,0,37
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,WARS,7453,14,100831840,100831840,Intron,SNP,T,C,,5,134,0,24
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,BAG5,9529,14,104027209,104027209,Missense_Mutation,SNP,A,C,c.(292-294)tTt>tGt,19,75,0,88
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PPP1R13B,23368,14,104260917,104260917,Intron,SNP,G,A,,5,85,0,43
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,IGHV6-1,28385,14,106405890,106405890,RNA,SNP,A,G,,4,82,0,68
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,IGHV6-1,28385,14,106405898,106405898,RNA,SNP,G,C,,5,83,0,79
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,KNSTRN,90417,15,40681457,40681457,Intron,SNP,A,C,,6,66,0,41
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,UBR1,197131,15,43317606,43317606,Missense_Mutation,SNP,T,C,c.(2557-2559)Agg>Ggg,7,123,0,83
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PPIP5K1,9677,15,43828342,43828342,Intron,SNP,T,C,,5,87,0,56
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DUT,1854,15,48633607,48633607,Intron,SNP,T,A,,3,6,0,25
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GALK2,2585,15,49487367,49487367,Intron,SNP,G,C,,9,93,0,37
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ANKDD1A,348094,15,65249507,65249507,Missense_Mutation,SNP,G,C,c.(1549-1551)Gtg>Ctg,5,113,0,57
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RP11-321F6.1,0,15,66956782,66956782,Missense_Mutation,SNP,A,G,c.(115-117)gAg>gGg,7,94,0,43
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ST20,400410,15,80200015,80200015,Start_Codon_SNP,SNP,T,C,c.(1-3)Atg>Gtg,6,119,0,52
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CHD2,1106,15,93485110,93485110,Missense_Mutation,SNP,G,A,c.(751-753)Gaa>Aaa,4,27,0,39
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C16orf89,146556,16,5094744,5094744,Missense_Mutation,SNP,A,C,c.(1048-1050)aTc>aGc,7,149,0,45
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C16orf89,146556,16,5094778,5094778,Silent,SNP,A,G,c.(1015-1017)Ttg>Ctg,13,153,0,44
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GRIN2A,2903,16,9934607,9934607,Silent,SNP,C,T,c.(1546-1548)gaG>gaA,8,405,1,256
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TVP23A,780776,16,10902419,10902419,Intron,SNP,C,T,,7,121,0,56
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CCDC101,112869,16,28600011,28600011,Intron,SNP,A,G,,6,93,0,36
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TAOK2,9344,16,29994646,29994646,Missense_Mutation,SNP,G,A,c.(1252-1254)cGg>cAg,4,32,0,17
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FUS,2521,16,31205733,31205733,IGR,SNP,T,C,,6,117,0,81
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ORC6,23594,16,46731856,46731856,3'UTR,SNP,A,G,,5,20,0,24
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NOD2,64127,16,50744475,50744475,Missense_Mutation,SNP,C,T,c.(652-654)aCa>aTa,6,232,0,226
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RPGRIP1L,23322,16,53656211,53656211,Missense_Mutation,SNP,A,G,c.(3352-3354)Ttc>Ctc,16,240,1,76
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DDX19A,55308,16,70381871,70381871,Intron,SNP,C,G,,5,136,0,54
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF23,7571,16,71484563,71484563,Intron,SNP,G,A,,9,245,0,67
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TCF25,22980,16,89971106,89971106,Intron,SNP,T,C,,7,45,0,27
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TRPV3,162514,17,3450009,3450009,Intron,SNP,T,C,,9,108,0,58
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,USP6,9098,17,5033891,5033891,Intron,SNP,T,C,,4,114,0,123
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SCIMP,388325,17,5124267,5124267,Intron,SNP,T,C,,4,14,0,8
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RPAIN,84268,17,5328765,5328765,Intron,SNP,T,C,,5,28,0,21
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GPR179,440435,17,36485634,36485634,Missense_Mutation,SNP,G,T,c.(3817-3819)gCc>gAc,35,122,0,113
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GPR179,440435,17,36485865,36485865,Missense_Mutation,SNP,C,A,c.(3586-3588)gGt>gTt,7,390,0,137
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RPL23,9349,17,37004296,37004296,3'UTR,SNP,T,G,,7,62,0,50
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,AARSD1,80755,17,41114215,41114215,Intron,SNP,A,G,,7,196,0,57
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RP11-156P1.2,0,17,45043990,45043990,Missense_Mutation,SNP,T,C,c.(673-675)aTa>aCa,10,165,0,60
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,XYLT2,64132,17,48440361,48440361,IGR,SNP,C,G,,6,165,0,36
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TMEM104,54868,17,72773786,72773786,Intron,SNP,C,T,,9,190,0,76
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TMEM104,54868,17,72773796,72773796,Intron,SNP,C,T,,9,145,0,70
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TMEM104,54868,17,72773880,72773880,Intron,SNP,A,G,,6,21,0,22
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DSG1,1828,18,28934360,28934360,Missense_Mutation,SNP,G,T,c.(2200-2202)gGt>gTt,5,106,0,139
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,KIAA1328,57536,18,34809574,34809574,Missense_Mutation,SNP,T,C,c.(1342-1344)tTa>tCa,5,86,0,60
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TCF4,6925,18,53298559,53298559,Missense_Mutation,SNP,T,C,c.(256-258)Acc>Gcc,5,59,0,32
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,BSG,682,19,579017,579017,Intron,SNP,T,A,,8,246,1,87
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MBD3,53615,19,1575265,1575265,IGR,SNP,T,C,,10,193,1,58
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TBXA2R,6915,19,3594948,3594948,3'UTR,SNP,T,C,,13,436,0,135
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TBXA2R,6915,19,3595003,3595003,3'UTR,SNP,G,A,,7,198,0,80
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ANKRD24,170961,19,4216631,4216631,Missense_Mutation,SNP,C,T,c.(1474-1476)Ctc>Ttc,8,281,0,145
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SHD,56961,19,4280167,4280167,Missense_Mutation,SNP,C,T,c.(106-108)gCg>gTg,10,399,0,168
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,STAP2,55620,19,4324567,4324567,Intron,SNP,G,A,,5,124,0,38
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,HDGFRP2,0,19,4496927,4496927,Intron,SNP,A,G,,10,206,0,50
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,HDGFRP2,0,19,4496974,4496974,Intron,SNP,G,A,,7,101,0,33
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CATSPERD,257062,19,5753650,5753650,Intron,SNP,A,G,,5,134,0,28
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ACTL9,284382,19,8807972,8807972,Silent,SNP,G,A,c.(1078-1080)cgC>cgT,31,190,0,98
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DHPS,1725,19,12791909,12791909,Intron,SNP,A,G,,6,139,0,47
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NOTCH3,4854,19,15284977,15284977,Silent,SNP,G,A,c.(4636-4638)cgC>cgT,57,311,1,142
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SMIM7,79086,19,16766182,16766182,Intron,SNP,C,T,,6,171,1,72
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FAM129C,199786,19,17657618,17657618,Intron,SNP,C,A,,18,165,1,90
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF93,81931,19,20042829,20042829,Intron,SNP,T,A,,4,25,0,31
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF486,90649,19,20308256,20308256,Missense_Mutation,SNP,T,C,c.(736-738)gTc>gCc,4,57,1,52
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF85,7639,19,21132286,21132286,Silent,SNP,C,T,c.(964-966)gcC>gcT,5,67,0,84
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF85,7639,19,21132356,21132356,Missense_Mutation,SNP,A,G,c.(1036-1038)Aaa>Gaa,5,35,0,58
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF430,80264,19,21240178,21240178,Missense_Mutation,SNP,A,G,c.(1063-1065)aAc>aGc,6,139,0,170
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF714,148206,19,21300156,21300156,Missense_Mutation,SNP,G,A,c.(685-687)aGa>aAa,7,31,1,71
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF714,148206,19,21300774,21300774,Missense_Mutation,SNP,G,A,c.(1303-1305)cGa>cAa,7,120,1,136
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF493,284443,19,21606831,21606831,Missense_Mutation,SNP,A,G,c.(985-987)gAa>gGa,6,62,0,109
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF100,163227,19,21909580,21909580,Missense_Mutation,SNP,A,G,c.(1534-1536)Tct>Cct,6,42,1,100
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF208,7757,19,22154081,22154081,Missense_Mutation,SNP,G,A,c.(3754-3756)cCc>cTc,7,102,1,152
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF729,100287226,19,22498680,22498680,Missense_Mutation,SNP,G,A,c.(2461-2463)Gag>Aag,9,109,0,197
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF729,100287226,19,22498894,22498894,Missense_Mutation,SNP,T,C,c.(2674-2676)tTg>tCg,4,57,0,146
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF729,100287226,19,22498895,22498895,Missense_Mutation,SNP,G,C,c.(2674-2676)ttG>ttC,5,54,0,144
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF729,100287226,19,22498930,22498930,Missense_Mutation,SNP,C,G,c.(2710-2712)gCa>gGa,5,39,0,138
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF724P,440519,19,23405373,23405373,Silent,SNP,T,G,c.(1672-1674)ggA>ggC,6,144,1,134
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RP11-15H20.6,0,19,23445176,23445176,RNA,SNP,G,A,,6,106,0,76
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF91,7644,19,23542369,23542369,Missense_Mutation,SNP,T,C,c.(3412-3414)Aaa>Gaa,5,72,1,90
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,UPK1A,11045,19,36167146,36167146,Intron,SNP,A,G,,7,180,0,42
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF829,374899,19,37382878,37382878,Missense_Mutation,SNP,A,T,c.(814-816)gTa>gAa,4,11,0,41
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF829,374899,19,37382880,37382880,Silent,SNP,T,C,c.(811-813)aaA>aaG,4,11,0,40
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,YIF1B,90522,19,38797568,38797568,Intron,SNP,G,A,,7,96,0,35
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CEACAM16,388551,19,45211162,45211162,Missense_Mutation,SNP,G,A,c.(970-972)Gtg>Atg,5,26,0,13
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MYBPC2,4606,19,50962568,50962568,Intron,SNP,G,A,,23,71,0,41
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,KLK15,55554,19,51330411,51330411,Missense_Mutation,SNP,C,A,c.(202-204)atG>atT,19,56,0,27
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF578,147660,19,53014481,53014481,Missense_Mutation,SNP,A,G,c.(847-849)Agt>Ggt,4,58,0,135
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF701,55762,19,53075554,53075554,Silent,SNP,T,C,c.(58-60)ccT>ccC,6,75,0,37
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF701,55762,19,53075587,53075587,Silent,SNP,T,C,c.(91-93)ggT>ggC,10,185,0,70
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF28,7576,19,53302941,53302941,Nonstop_Mutation,SNP,T,G,c.(2155-2157)tgA>tgC,6,10,0,23
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF813,126017,19,53995025,53995025,Silent,SNP,T,C,c.(1537-1539)caT>caC,4,39,1,93
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C20orf196,149840,20,5752774,5752774,Intron,SNP,A,G,,7,42,0,35
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ARFGAP1,55738,20,61910660,61910660,Intron,SNP,T,C,,5,76,0,38
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,JAM2,58494,21,27086557,27086557,Intron,SNP,G,A,,6,50,0,40
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DSCR8,84677,21,39526524,39526524,Silent,SNP,T,C,c.(94-96)ccT>ccC,8,435,0,115
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PKNOX1,5316,21,44452249,44452249,3'UTR,SNP,T,C,,5,105,0,38
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,BCL2L13,23786,22,18167462,18167462,Intron,SNP,C,T,,7,74,0,72
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SUSD2,56241,22,24579549,24579549,Missense_Mutation,SNP,G,A,c.(373-375)cGc>cAc,27,154,0,74
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TOM1,10043,22,35727319,35727319,Intron,SNP,A,G,,12,403,0,102
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,L3MBTL2,83746,22,41604412,41604412,Intron,SNP,A,G,,7,82,0,45
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C22orf34,348645,22,50017953,50017953,Missense_Mutation,SNP,G,A,c.(508-510)Cct>Tct,5,78,0,46
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NLGN4X,57502,X,5811021,5811021,Missense_Mutation,SNP,G,A,c.(2287-2289)aCg>aTg,13,119,0,101
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,BEND2,139105,X,18231900,18231900,Missense_Mutation,SNP,A,G,c.(370-372)Tgc>Cgc,4,41,0,17
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FAM46D,169966,X,79698538,79698538,Missense_Mutation,SNP,G,A,c.(499-501)cGg>cAg,3,7,0,33
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RENBP,5973,X,153201518,153201518,Intron,SNP,G,A,,5,60,0,9
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FHAD1,114827,1,15684866,15684866,Intron,DEL,T,-,,3,3,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ECE1,1889,1,21573612,21573613,Intron,INS,-,T,,3,27,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NBPF3,84224,1,21805992,21805993,Intron,INS,-,A,,3,19,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NIPAL3,57185,1,24780692,24780693,Intron,INS,-,T,,31,4,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MEAF6,64769,1,37961425,37961426,Intron,INS,-,T,,8,43,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CAP1,10487,1,40527557,40527558,Intron,INS,-,G,,3,15,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RIMS3,9783,1,41094384,41094385,Intron,INS,-,T,,6,31,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SZT2,23334,1,43886747,43886748,Intron,INS,-,G,,4,17,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NDC1,55706,1,54284820,54284821,Intron,INS,-,C,,4,35,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NFIA,4774,1,61743167,61743168,Intron,INS,-,C,,8,23,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZZZ3,26009,1,78031886,78031886,Intron,DEL,A,-,,4,14,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,COL24A1,255631,1,86306854,86306855,Intron,INS,-,T,,3,17,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GBP7,388646,1,89613487,89613487,Intron,DEL,C,-,,3,14,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DPYD,1806,1,98012095,98012095,Intron,DEL,T,-,,6,39,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RTCA,8634,1,100746788,100746788,Intron,DEL,T,-,,7,29,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NTNG1,22854,1,107691220,107691220,Frame_Shift_Del,DEL,A,-,c.(4-6)tatfs,3,21,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,AHCYL1,10768,1,110551679,110551681,In_Frame_Del,DEL,GCA,-,c.(142-147)atgcag>atg,9,74,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PDE4DIP,9659,1,144912051,144912055,Intron,DEL,ATTAA,-,,3,11,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,USP21,27005,1,161134285,161134286,Intron,INS,-,T,,8,11,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NR1I3,9970,1,161202742,161202743,Intron,INS,-,G,,7,30,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DDR2,4921,1,162745672,162745673,Intron,INS,-,ACA,,13,90,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RGL1,23179,1,183853053,183853054,Intron,INS,-,C,,8,18,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,HMCN1,83872,1,186105858,186105858,Frame_Shift_Del,DEL,C,-,c.(13369-13371)atcfs,10,19,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PTPRC,5788,1,198713381,198713381,Intron,DEL,G,-,,4,11,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CAMSAP2,23271,1,200826561,200826561,Intron,DEL,G,-,,4,11,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ACTN2,88,1,236924225,236924225,Intron,DEL,A,-,,4,23,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RYR2,6262,1,237496871,237496871,Intron,DEL,A,-,,9,18,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CHML,1122,1,241797485,241797486,Frame_Shift_Ins,INS,-,G,c.(1582-1584)aaafs,3,14,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,AHCTF1,25909,1,247014382,247014385,Frame_Shift_Del,DEL,TGGC,-,c.(4921-4926)ttgccafs,7,21,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,OR2W5,441932,1,247655187,247655189,RNA,DEL,GGA,-,,21,93,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,KIDINS220,57498,2,8887237,8887238,Intron,INS,-,G,,7,50,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NOL10,79954,2,10774621,10774621,Intron,DEL,A,-,,12,64,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,HNRNPLL,92906,2,38812893,38812894,Frame_Shift_Del,DEL,AG,-,c.(436-441)aactatfs,18,122,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GPR75-ASB3,100302652,2,53941515,53941517,Intron,DEL,ACA,-,,10,32,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GFPT1,2673,2,69554015,69554016,Intron,DEL,CC,-,,9,54,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MPHOSPH10,10199,2,71360637,71360637,Frame_Shift_Del,DEL,T,-,c.(697-699)gatfs,14,15,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CCT7,10574,2,73466809,73466809,Frame_Shift_Del,DEL,C,-,c.(43-45)agcfs,7,49,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,Unknown,0,2,91795727,91795728,IGR,INS,-,TT,,3,20,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NEB,4703,2,152490167,152490168,Intron,INS,-,T,,12,15,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TANC1,85461,2,160055462,160055463,Intron,INS,-,T,,5,21,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,7-Mar,64844,2,160604873,160604873,Frame_Shift_Del,DEL,T,-,c.(1072-1074)tcafs,5,12,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GCA,25801,2,163208835,163208836,Intron,DEL,TA,-,,4,14,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TTN,7273,2,179582653,179582654,Intron,INS,-,A,,4,1,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CERKL,375298,2,182414471,182414472,Intron,INS,-,A,,3,19,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GULP1,51454,2,189447047,189447048,Intron,INS,-,CCA,,9,13,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ICOS,29851,2,204801667,204801668,Intron,INS,-,G,,3,8,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ICOS,29851,2,204821326,204821327,Intron,INS,-,C,,5,13,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MDH1B,130752,2,207621591,207621592,Intron,INS,-,G,,8,28,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MAP2,4133,2,210574980,210574981,Splice_Site,DEL,TA,-,c.e12+2,3,16,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ABCA12,26154,2,215875006,215875007,Intron,INS,-,T,,4,23,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,STK36,27148,2,219555142,219555143,Intron,INS,-,C,,12,39,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DOCK10,55619,2,225670229,225670229,Frame_Shift_Del,DEL,T,-,c.(3832-3834)attfs,5,28,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,COL4A3,1285,2,228159355,228159356,Intron,INS,-,C,,9,52,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ARPC4,10093,3,9845119,9845119,Intron,DEL,G,-,,3,0,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,Unknown,0,3,47054295,47054296,IGR,INS,-,G,,11,59,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SFMBT1,51460,3,52955820,52955821,Frame_Shift_Ins,INS,-,TA,c.(1156-1161)gagaacfs,9,55,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF654,55279,3,88189337,88189338,In_Frame_Ins,INS,-,TTT,c.(877-879)agg>aTTTgg,10,26,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PROS1,5627,3,93619566,93619567,Intron,INS,-,T,,4,17,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,EPHA6,285220,3,97454829,97454829,Frame_Shift_Del,DEL,C,-,c.(2995-2997)ctafs,11,30,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DCBLD2,131566,3,98530378,98530379,Frame_Shift_Ins,INS,-,C,c.(1381-1386)actcaafs,5,16,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CBLB,868,3,105453011,105453012,Intron,DEL,TA,-,,6,19,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,BBX,56987,3,107474444,107474446,Splice_Site,DEL,GAT,-,c.(823-828)gagatt>gat,4,26,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CD96,10225,3,111325704,111325704,Intron,DEL,C,-,,5,34,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,KIAA1407,57577,3,113721305,113721306,Frame_Shift_Del,DEL,AT,-,c.(2056-2061)aaattgfs,3,16,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LRRC58,116064,3,120053765,120053767,In_Frame_Del,DEL,CCA,-,c.(847-852)cctgga>cca,6,34,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,EAF2,55840,3,121573680,121573681,Intron,INS,-,AA,,4,29,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ATP2C1,27032,3,130711881,130711884,Intron,DEL,ATAC,-,,3,22,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TF,7018,3,133495832,133495833,Intron,DEL,CC,-,,6,38,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MRPS22,56945,3,139074480,139074481,Intron,INS,-,T,,9,59,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SMC4,10051,3,160122265,160122268,Frame_Shift_Del,DEL,GGAC,-,c.(658-663)ttggacfs,4,13,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,USP13,8975,3,179459987,179459988,Frame_Shift_Ins,INS,-,T,c.(1384-1386)aacfs,7,42,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LIPH,200879,3,185252760,185252761,Frame_Shift_Ins,INS,-,G,c.(208-210)aaafs,7,10,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,UTS2B,257313,3,190991186,190991186,Intron,DEL,T,-,,0,1,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,KIAA0232,9778,4,6865495,6865496,Frame_Shift_Ins,INS,-,G,c.(3385-3390)gagaaafs,6,35,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DHX15,1665,4,24544664,24544665,Intron,INS,-,AG,,15,26,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PCDH7,5099,4,30922006,30922007,Intron,INS,-,C,,5,13,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,Unknown,0,4,63683081,63683082,IGR,DEL,AA,-,,3,17,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TMPRSS11B,132724,4,69096946,69096947,Frame_Shift_Ins,INS,-,G,c.(658-663)ctattafs,4,24,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,COX18,285521,4,73930632,73930633,Intron,DEL,TA,-,,8,18,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,Unknown,0,4,74804432,74804433,IGR,INS,-,CCA,,6,31,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SCARB2,950,4,77082760,77082761,3'UTR,INS,-,T,,14,9,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,Unknown,0,4,83196607,83196608,IGR,INS,-,GG,,1,15,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,WDFY3,23001,4,85696168,85696168,Intron,DEL,A,-,,6,14,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ADH1C,126,4,100260772,100260773,RNA,INS,-,C,,6,29,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ANK2,287,4,114120268,114120269,Intron,INS,-,T,,5,34,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FAT4,79633,4,126370321,126370322,Frame_Shift_Ins,INS,-,A,c.(8149-8154)agtatcfs,4,22,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TMEM184C,55751,4,148552785,148552786,Intron,INS,-,TC,,7,9,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PRMT10,0,4,148594766,148594767,Intron,INS,-,T,,4,26,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LRBA,987,4,151388805,151388806,Intron,INS,-,T,,6,13,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SH3D19,152503,4,152065453,152065454,Intron,DEL,CC,-,,5,16,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GUCY1A3,2982,4,156631766,156631767,Frame_Shift_Ins,INS,-,T,c.(448-453)aacatcfs,4,22,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CTSO,1519,4,156864292,156864293,Intron,DEL,CA,-,,6,8,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TRIM60,166655,4,165962393,165962393,Frame_Shift_Del,DEL,G,-,c.(1168-1170)cgafs,4,14,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DDX60,55601,4,169204740,169204741,Frame_Shift_Ins,INS,-,T,c.(1576-1581)cctcgtfs,3,11,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GPM6A,2823,4,176561801,176561802,Intron,INS,-,T,,6,4,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NSUN2,54888,5,6620270,6620271,Frame_Shift_Ins,INS,-,T,c.(763-765)ggcfs,7,49,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ADCY2,108,5,7727224,7727224,Intron,DEL,T,-,,6,8,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DNAH5,1767,5,13762725,13762727,Intron,DEL,TCC,-,,4,18,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FAM134B,54463,5,16483628,16483629,Intron,DEL,CA,-,,5,27,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DROSHA,29102,5,31504769,31504770,Intron,INS,-,GGG,,8,30,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,IL7R,3575,5,35876531,35876533,In_Frame_Del,DEL,GGG,-,c.(1321-1326)ctggga>cta,6,45,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,OSMR,9180,5,38917808,38917809,Intron,INS,-,A,,6,24,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF131,7690,5,43174824,43174825,Frame_Shift_Ins,INS,-,T,c.(1462-1464)gtgfs,4,28,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PIK3R1,5295,5,67569721,67569721,Intron,DEL,G,-,,9,11,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MCCC2,64087,5,70952724,70952725,3'UTR,INS,-,C,,4,13,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MAP1B,4131,5,71493713,71493715,In_Frame_Del,DEL,GGA,-,c.(4531-4533)ggadel,3,16,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,AGGF1,55109,5,76344713,76344713,Intron,DEL,T,-,,5,21,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CMYA5,202333,5,79028902,79028903,Frame_Shift_Ins,INS,-,T,c.(4315-4317)gcafs,5,10,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GPR98,84059,5,89988423,89988424,Splice_Site,DEL,TT,-,c.(6952-6954)gtt>g,4,14,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RIOK2,55781,5,96503204,96503204,Frame_Shift_Del,DEL,A,-,c.(1363-1365)ttgfs,18,34,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FAM174A,345757,5,99897819,99897820,Frame_Shift_Ins,INS,-,C,c.(496-498)atgfs,3,21,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TMEM232,642987,5,109973938,109973942,Frame_Shift_Del,DEL,GAGGG,-,c.(457-462)tccctcfs,4,42,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C5orf56,441108,5,131796512,131796512,Frame_Shift_Del,DEL,A,-,c.(346-348)catfs,4,53,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,KIF20A,10112,5,137518232,137518233,Intron,INS,-,C,,5,7,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,HSPA9,3313,5,137892368,137892368,Intron,DEL,A,-,,5,36,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RBM27,54439,5,145641334,145641334,Frame_Shift_Del,DEL,T,-,c.(2155-2157)tctfs,8,61,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SPINK1,6690,5,147211223,147211224,5'UTR,INS,-,T,,7,15,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LARP1,23367,5,154185460,154185461,Frame_Shift_Ins,INS,-,G,c.(2335-2337)acgfs,5,22,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RANBP17,64901,5,170668078,170668079,Frame_Shift_Ins,INS,-,C,c.(2569-2571)aacfs,3,20,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CPEB4,80315,5,173378809,173378810,Intron,INS,-,TC,,5,29,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NSD1,64324,5,176638720,176638721,Frame_Shift_Ins,INS,-,C,c.(3319-3324)gatgtgfs,6,21,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DUSP22,56940,6,311963,311964,Splice_Site,DEL,GT,-,c.e3+1,12,47,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GCNT2,2651,6,10586638,10586638,Intron,DEL,C,-,,5,37,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CAP2,10486,6,17507317,17507317,Intron,DEL,C,-,,5,35,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LRRC16A,55604,6,25466077,25466077,Intron,DEL,G,-,,3,20,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TRIM10,10107,6,30121458,30121459,3'UTR,DEL,GC,-,,8,61,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TAP1,6890,6,32818520,32818522,Intron,DEL,CTA,-,,4,0,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PKHD1,5314,6,51889699,51889700,Frame_Shift_Ins,INS,-,T,c.(4906-4911)ctggaafs,12,52,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GCLC,2729,6,53371637,53371641,Intron,DEL,TGCAT,-,,9,22,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ME1,4199,6,84117523,84117526,Frame_Shift_Del,DEL,ACTA,-,c.(172-177)gtagtafs,9,41,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MDN1,23195,6,90459483,90459484,Intron,DEL,AA,-,,4,13,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,REV3L,5980,6,111632346,111632347,Frame_Shift_Ins,INS,-,T,c.(8719-8721)tttfs,4,28,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FYN,2534,6,112035579,112035579,Frame_Shift_Del,DEL,T,-,c.(313-315)aaafs,6,55,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ROS1,6098,6,117649924,117649925,Intron,INS,-,T,,7,29,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CEP85L,387119,6,118801601,118801601,Frame_Shift_Del,DEL,A,-,c.(1819-1821)aatfs,8,28,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,HIVEP2,3097,6,143093565,143093565,Frame_Shift_Del,DEL,A,-,c.(2311-2313)tctfs,6,58,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,UTRN,7402,6,144811285,144811286,Frame_Shift_Ins,INS,-,AA,c.(4213-4215)tccfs,6,67,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,UTRN,7402,6,145119002,145119003,Frame_Shift_Del,DEL,TG,-,c.(9121-9123)tggfs,5,42,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FBXO30,84085,6,146126403,146126404,Frame_Shift_Ins,INS,-,C,c.(1138-1140)gtcfs,4,16,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZC3H12D,340152,6,149780710,149780710,Intron,DEL,G,-,,7,67,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SYNE1,23345,6,152660612,152660613,Intron,INS,-,TGA,,3,6,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SYNE1,23345,6,152772171,152772171,Intron,DEL,G,-,,3,10,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SCAF8,22828,6,155153804,155153806,In_Frame_Del,DEL,CCC,-,c.(3091-3093)cccdel,5,10,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,IQCE,23288,7,2641012,2641013,Intron,DEL,CA,-,,22,62,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,COL28A1,340267,7,7398300,7398304,Frame_Shift_Del,DEL,ACTGT,-,c.(3337-3342)aacagtfs,3,53,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ANKMY2,57037,7,16642004,16642005,Splice_Site,INS,-,T,c.e9+1,5,10,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DNAH11,8701,7,21627721,21627721,Frame_Shift_Del,DEL,G,-,c.(1750-1752)gtcfs,3,12,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NME8,51314,7,37907525,37907526,Intron,INS,-,T,,7,36,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MAGI2,9863,7,77755051,77755055,Frame_Shift_Del,DEL,AGTCT,-,c.(3523-3528)agactgfs,4,104,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CACNA2D1,781,7,81746308,81746309,Intron,DEL,AA,-,,6,13,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GRM3,2913,7,86479683,86479683,Intron,DEL,T,-,,6,22,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ABCB4,5244,7,87056026,87056027,Intron,INS,-,C,,5,22,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,AKAP9,10142,7,91624900,91624901,Intron,INS,-,C,,5,16,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,AKAP9,10142,7,91730129,91730130,Intron,INS,-,C,,5,28,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ASNS,440,7,97487745,97487747,Intron,DEL,TCC,-,,4,24,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ASNS,440,7,97493742,97493742,Frame_Shift_Del,DEL,C,-,c.(316-318)gacfs,6,17,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF789,285989,7,99081442,99081443,Intron,INS,-,A,,4,34,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DOCK4,9732,7,111575497,111575498,Intron,INS,-,C,,9,74,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CAPZA2,830,7,116544469,116544470,Intron,INS,-,G,,3,3,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ABCF2,10061,7,150916068,150916069,Intron,INS,-,G,,1,25,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ANGPT2,285,8,6357348,6357349,3'UTR,INS,-,C,,16,37,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZDHHC2,51201,8,17074760,17074760,Intron,DEL,G,-,,6,7,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,R3HCC1,203069,8,23145521,23145521,Intron,DEL,C,-,,11,55,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,KIF13B,23303,8,28980844,28980845,Intron,INS,-,T,,5,19,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NRG1,3084,8,32607160,32607160,Intron,DEL,T,-,,10,9,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PCMTD1,115294,8,52773524,52773525,Frame_Shift_Ins,INS,-,G,c.(187-189)ttgfs,7,45,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RRS1,23212,8,67342326,67342327,Frame_Shift_Ins,INS,-,A,c.(961-963)ggcfs,19,146,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SGK3,23678,8,67740841,67740842,Intron,INS,-,G,,9,21,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,EYA1,2138,8,72229739,72229740,Intron,INS,-,G,,3,22,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CALB1,793,8,91072941,91072941,Intron,DEL,A,-,,8,16,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,UQCRB,7381,8,97241093,97241094,3'UTR,INS,-,T,,3,16,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,EIF3H,8667,8,117738293,117738294,Frame_Shift_Ins,INS,-,C,c.(292-294)ttcfs,13,19,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,OC90,729330,8,133041490,133041491,Intron,INS,-,GG,,2,22,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF7,7553,8,146067042,146067043,Frame_Shift_Ins,INS,-,A,c.(550-552)cttfs,13,28,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF252P,286101,8,146202483,146202484,RNA,INS,-,C,,1,8,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DOCK8,81704,9,339087,339088,Frame_Shift_Ins,INS,-,G,c.(1504-1506)aagfs,9,70,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PTPRD,5789,9,8436698,8436699,Intron,INS,-,GATTG,,3,38,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,IFT74,80173,9,26980434,26980435,Intron,INS,-,TA,,10,17,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TEK,7010,9,27183395,27183396,Intron,INS,-,C,,3,11,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TEK,7010,9,27197372,27197372,Frame_Shift_Del,DEL,A,-,c.(1684-1686)accfs,11,47,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TLN1,7094,9,35703517,35703517,Intron,DEL,T,-,,8,47,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TLE1,7088,9,84268885,84268887,Splice_Site,DEL,TTA,-,c.e5+1,6,13,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,XXyac-YM21GA2.7,0,9,90473647,90473648,RNA,INS,-,A,,6,39,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SPTLC1,10558,9,94808427,94808428,Intron,INS,-,GC,,10,15,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,IARS,3376,9,95050445,95050445,Frame_Shift_Del,DEL,T,-,c.(238-240)gacfs,6,41,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CCDC180,100499483,9,100075657,100075658,Intron,DEL,CT,-,,8,31,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,OR1N2,138882,9,125315629,125315629,Frame_Shift_Del,DEL,C,-,c.(181-183)ctcfs,6,62,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,STRBP,55342,9,125935969,125935970,Frame_Shift_Del,DEL,GG,-,c.(376-378)cctfs,7,19,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FAM208B,54906,10,5790886,5790886,Frame_Shift_Del,DEL,G,-,c.(5500-5502)ctgfs,5,23,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MCM10,55388,10,13239615,13239616,Intron,INS,-,G,,7,30,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RAB18,22931,10,27830059,27830060,3'UTR,INS,-,C,,6,39,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MPP7,143098,10,28345283,28345284,Intron,INS,-,TG,,7,6,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ARHGAP12,94134,10,32101655,32101655,Frame_Shift_Del,DEL,C,-,c.(1930-1932)cgtfs,4,30,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ANKRD30A,91074,10,37627048,37627049,Intron,INS,-,A,,6,24,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CHAT,1103,10,50872741,50872742,Intron,INS,-,T,,5,29,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,KCNMA1,3778,10,78649159,78649159,Intron,DEL,T,-,,5,31,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,IFIT1B,439996,10,91143902,91143903,Frame_Shift_Ins,INS,-,G,c.(832-834)ttgfs,6,34,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,KIF11,3832,10,94410125,94410125,Intron,DEL,G,-,,9,12,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MYOF,26509,10,95113551,95113554,Intron,DEL,GATT,-,,8,14,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SLIT1,6585,10,98824545,98824549,Intron,DEL,TTCCA,-,,9,28,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,WDR96,0,10,105951997,105951998,Frame_Shift_Ins,INS,-,T,c.(1297-1299)aatfs,6,45,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DMBT1,1755,10,124338200,124338201,Intron,INS,-,A,,16,55,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,JAKMIP3,282973,10,133980447,133980448,Intron,INS,-,AG,,16,34,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,OR51H1P,401663,11,4881357,4881358,Frame_Shift_Ins,INS,-,AT,c.(436-438)actfs,10,15,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GVINP1,387751,11,6738579,6738581,RNA,DEL,GCA,-,,3,29,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PPFIBP2,8495,11,7652152,7652152,Intron,DEL,G,-,,6,41,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TMEM9B,56674,11,8974629,8974630,Intron,INS,-,A,,6,12,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SLC6A5,9152,11,20636107,20636107,Intron,DEL,G,-,,4,3,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RAG1,5896,11,36597480,36597481,Frame_Shift_Del,DEL,GA,-,c.(2626-2628)gagfs,7,28,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CKAP5,9793,11,46811965,46811965,Intron,DEL,A,-,,3,3,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,OR4C15,81309,11,55322360,55322360,Frame_Shift_Del,DEL,T,-,c.(577-579)ctcfs,5,19,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,OR5L2,26338,11,55595579,55595580,Frame_Shift_Del,DEL,GG,-,c.(883-888)aaggatfs,6,15,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,OR5R1,219479,11,56185002,56185003,Frame_Shift_Ins,INS,-,C,c.(706-708)aaafs,8,38,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,UBXN1,51035,11,62444852,62444852,Intron,DEL,G,-,,6,3,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RTN3,10313,11,63486566,63486568,In_Frame_Del,DEL,GCA,-,c.(592-594)gcadel,9,37,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RSF1,51773,11,77404676,77404677,Intron,INS,-,A,,5,33,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,INTS4,92105,11,77622076,77622077,Intron,INS,-,CC,,3,42,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CCDC82,79780,11,96117732,96117734,In_Frame_Del,DEL,ACT,-,c.(178-180)agtdel,1,23,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MMP10,4319,11,102651350,102651351,5'UTR,INS,-,T,,4,31,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ATM,472,11,108165653,108165654,Splice_Site,DEL,GG,-,c.(4774-4779)gaggaa>gaaa,4,20,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MPZL3,196264,11,118111007,118111008,Frame_Shift_Del,DEL,AG,-,c.(157-159)actfs,9,42,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FAM118B,79607,11,126126537,126126538,Frame_Shift_Ins,INS,-,G,c.(772-774)ttcfs,15,45,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TIRAP,114609,11,126163188,126163189,Intron,INS,-,C,,8,28,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CACNA1C,775,12,2716125,2716126,Intron,INS,-,C,,6,12,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TNFRSF1A,7132,12,6442096,6442097,Intron,INS,-,G,,5,7,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CLEC2D,29121,12,9848183,9848184,IGR,INS,-,T,,4,22,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,KLRAP1,10748,12,10750780,10750781,RNA,INS,-,AA,,3,7,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ITPR2,3709,12,26551728,26551728,Intron,DEL,T,-,,4,4,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CAPRIN2,65981,12,30881900,30881905,In_Frame_Del,DEL,TTGTTC,-,c.(1459-1464)gaacaadel,6,158,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MUC19,283463,12,40839387,40839388,Frame_Shift_Ins,INS,-,A,c.(2923-2928)gtgactfs,9,51,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NELL2,4753,12,45170793,45170794,Intron,DEL,GC,-,,16,20,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,AQP2,359,12,50348248,50348249,Intron,INS,-,A,,7,42,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LARP4,113251,12,50796518,50796519,Intron,INS,-,C,,7,19,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GALNT6,11226,12,51748116,51748117,3'UTR,INS,-,A,,10,13,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ATF7,11016,12,53917190,53917190,Intron,DEL,G,-,,4,27,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PAN2,9924,12,56716743,56716744,Intron,INS,-,T,,10,10,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FAM19A2,338811,12,62148626,62148628,Intron,DEL,TAC,-,,5,14,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C12orf55,0,12,97078832,97078832,Frame_Shift_Del,DEL,G,-,c.(5830-5832)gctfs,11,70,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ANO4,121601,12,101437280,101437280,Intron,DEL,G,-,,4,11,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SYCP3,50511,12,102122880,102122881,Intron,INS,-,T,,4,14,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PARPBP,55010,12,102569477,102569477,Intron,DEL,A,-,,0,0,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PRDM4,11108,12,108145400,108145401,Frame_Shift_Ins,INS,-,A,c.(916-918)tcafs,8,52,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TMEM116,89894,12,112371653,112371654,Intron,INS,-,CA,,3,16,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TBX3,6926,12,115114366,115114367,Intron,INS,-,A,,5,27,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF664,144348,12,124497455,124497455,Frame_Shift_Del,DEL,A,-,c.(763-765)catfs,4,23,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PARP4,143,13,25068650,25068650,Intron,DEL,G,-,,8,15,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,HSPH1,10808,13,31719735,31719735,Frame_Shift_Del,DEL,G,-,c.(1549-1551)ctgfs,17,42,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,STARD13,90627,13,33703298,33703299,Frame_Shift_Ins,INS,-,T,c.(1513-1518)aaagatfs,7,30,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CCNA1,8900,13,37012782,37012787,Splice_Site,DEL,TAAGGC,-,c.(670-678)ataaggcac>aac,3,57,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FNDC3A,22862,13,49772433,49772435,Intron,DEL,TAG,-,,1,3,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FNDC3A,22862,13,49772495,49772496,Splice_Site,DEL,TA,-,c.e23-1,6,24,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,Unknown,0,13,52412559,52412560,IGR,INS,-,G,,9,38,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DIAPH3,81624,13,60240997,60240998,Intron,INS,-,G,,5,37,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SLAIN1,122060,13,78327328,78327329,Intron,INS,-,C,,4,7,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SLITRK6,84189,13,86368703,86368704,Frame_Shift_Ins,INS,-,A,c.(1939-1941)caafs,6,37,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TM9SF2,9375,13,100191691,100191692,Intron,INS,-,C,,8,25,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PCCA,5095,13,100962212,100962213,Intron,INS,-,TAT,,6,26,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TEP1,7011,14,20874341,20874341,Intron,DEL,A,-,,6,20,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,HNRNPC,3183,14,21681303,21681304,Intron,INS,-,A,,6,12,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SUPT16H,11198,14,21831491,21831491,Intron,DEL,T,-,,5,54,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TRAV18,28665,14,22470650,22470650,RNA,DEL,G,-,,15,27,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NOVA1,4857,14,26917212,26917212,Frame_Shift_Del,DEL,T,-,c.(1477-1479)acafs,6,33,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,HECTD1,25831,14,31582643,31582644,Frame_Shift_Ins,INS,-,G,c.(5902-5904)attfs,9,47,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DTD2,112487,14,31917466,31917467,Frame_Shift_Ins,INS,-,GT,c.(373-378)ctatgtfs,5,53,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LRFN5,145581,14,42360441,42360442,Intron,DEL,AT,-,,5,39,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,Unknown,0,14,52755885,52755886,IGR,INS,-,A,,10,7,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PPM1A,5494,14,60749624,60749624,Frame_Shift_Del,DEL,C,-,c.(202-204)gccfs,3,61,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PTGR2,145482,14,74346753,74346754,Intron,INS,-,A,,4,20,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PROX2,283571,14,75325214,75325215,Intron,INS,-,AA,,9,28,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,BATF,10538,14,75991560,75991560,Intron,DEL,G,-,,10,43,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FOXN3,1112,14,89885618,89885619,Intron,INS,-,G,,11,7,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CATSPERB,79820,14,92105546,92105547,In_Frame_Ins,INS,-,CAT,c.(1480-1482)aca>aATGca,7,54,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,HERC2P2,400322,15,23312177,23312177,RNA,DEL,G,-,,6,1,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,GABRG3,2567,15,27222059,27222060,Intron,DEL,CA,-,,8,14,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SLC12A6,9990,15,34549758,34549758,Intron,DEL,G,-,,8,20,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CASC4,113201,15,44695071,44695071,Intron,DEL,T,-,,3,20,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SLC12A1,6557,15,48519242,48519243,Intron,INS,-,A,,7,3,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CYP19A1,1588,15,51510671,51510671,Intron,DEL,G,-,,5,4,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DMXL2,23312,15,51780166,51780166,Frame_Shift_Del,DEL,C,-,c.(5200-5202)ttgfs,10,20,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,UNC13C,440279,15,54556609,54556610,Intron,INS,-,T,,5,10,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NEDD4,4734,15,56208441,56208441,Frame_Shift_Del,DEL,T,-,c.(589-591)agtfs,7,33,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,AKAP13,11214,15,86122188,86122188,Frame_Shift_Del,DEL,C,-,c.(889-891)cttfs,0,37,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TARSL2,123283,15,102211828,102211828,Intron,DEL,A,-,,5,11,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ALG1,56052,16,5122807,5122808,Intron,INS,-,G,,4,6,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C16orf62,57020,16,19612969,19612970,Intron,INS,-,A,,11,51,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FUS,2521,16,31199560,31199561,Intron,DEL,CC,-,,10,25,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FUS,2521,16,31205743,31205747,IGR,DEL,GGGAC,-,,5,96,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,Unknown,0,16,34331860,34331860,IGR,DEL,T,-,,9,14,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C16orf97,388276,16,52060262,52060262,IGR,DEL,C,-,,6,21,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CHD9,80205,16,53338277,53338278,Frame_Shift_Ins,INS,-,G,c.(6358-6363)aaaccafs,12,28,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,OGFOD1,55239,16,56500777,56500778,Intron,INS,-,A,,11,44,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,OGFOD1,55239,16,56509501,56509501,Intron,DEL,T,-,,6,28,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TK2,7084,16,66570816,66570816,Intron,DEL,T,-,,15,88,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TANGO6,79613,16,68936280,68936281,Frame_Shift_Ins,INS,-,G,c.(1540-1542)aagfs,5,34,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DDX19B,11269,16,70358479,70358483,Intron,DEL,CTTGC,-,,4,65,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,COG4,25839,16,70553479,70553482,Intron,DEL,TTAA,-,,5,36,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ADAMTS18,170692,16,77329119,77329120,Intron,INS,-,GG,,3,8,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ANKRD11,29123,16,89350559,89350560,Frame_Shift_Ins,INS,-,CC,c.(2389-2391)gaafs,1,49,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PELP1,27043,17,4575415,4575417,In_Frame_Del,DEL,CAG,-,c.(2869-2871)ctgdel,13,42,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,NLRP1,22861,17,5418721,5418723,Intron,DEL,CCC,-,,12,47,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ALOX12B,242,17,7976761,7976762,Intron,INS,-,C,,13,24,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CDRT4,284040,17,15341484,15341485,Frame_Shift_Del,DEL,AG,-,c.(61-63)ctafs,6,35,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ATPAF2,91647,17,17927796,17927797,Intron,INS,-,T,,6,15,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,KIAA0100,9703,17,26955307,26955308,Frame_Shift_Ins,INS,-,A,c.(4567-4572)ggacaafs,11,24,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CPD,1362,17,28773004,28773004,Frame_Shift_Del,DEL,G,-,c.(2839-2841)gtafs,5,20,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PSMD3,5709,17,38152882,38152883,Intron,INS,-,G,,12,26,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MSL1,339287,17,38282422,38282422,Intron,DEL,A,-,,6,26,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ACLY,47,17,40060930,40060930,Intron,DEL,G,-,,10,39,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,SPAG9,9043,17,49053333,49053333,Intron,DEL,C,-,,10,27,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MSI2,124540,17,55339564,55339565,Intron,INS,-,TC,,11,50,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,POLG2,11232,17,62479105,62479105,Frame_Shift_Del,DEL,A,-,c.(1120-1122)cttfs,9,31,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PPP4R1,9989,18,9562084,9562085,Intron,INS,-,GGAG,,7,29,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TRAPPC8,22878,18,29446925,29446925,Frame_Shift_Del,DEL,A,-,c.(2476-2478)ctcfs,4,26,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ASXL3,80816,18,31319013,31319013,Frame_Shift_Del,DEL,T,-,c.(1645-1647)tctfs,4,28,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ACAA2,10449,18,47329048,47329049,Intron,INS,-,G,,8,13,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ALPK2,115701,18,56165353,56165353,Intron,DEL,G,-,,7,26,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,KIAA1468,57614,18,59931274,59931274,Frame_Shift_Del,DEL,C,-,c.(2401-2403)atcfs,5,30,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RTTN,25914,18,67794778,67794778,Frame_Shift_Del,DEL,C,-,c.(3343-3345)gttfs,12,15,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,MUC16,94025,19,9064056,9064057,In_Frame_Ins,INS,-,AAC,c.(23389-23391)atg>aGTTtg,1,68,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,OR7D2,162998,19,9296856,9296857,Frame_Shift_Ins,INS,-,C,c.(400-402)atcfs,7,21,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF799,90576,19,12501746,12501747,Frame_Shift_Del,DEL,TG,-,c.(1465-1467)caafs,3,10,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF431,170959,19,21349086,21349089,Intron,DEL,GCCC,-,,6,26,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF607,84775,19,38190382,38190383,Frame_Shift_Ins,INS,-,T,c.(649-651)agafs,4,6,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,WDR87,83889,19,38379153,38379154,Frame_Shift_Ins,INS,-,G,c.(5038-5043)gcaaagfs,31,106,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF780A,284323,19,40580825,40580826,Frame_Shift_Ins,INS,-,T,c.(1522-1524)aagfs,4,28,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF230,7773,19,44514616,44514617,Frame_Shift_Ins,INS,-,G,c.(424-429)aatgggfs,9,42,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FUT1,2523,19,49254370,49254371,Frame_Shift_Ins,INS,-,A,c.(166-171)tgcctgfs,4,63,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF615,284370,19,52496160,52496161,Frame_Shift_Ins,INS,-,C,c.(2167-2169)cttfs,6,17,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF888,388559,19,53421071,53421072,lincRNA,INS,-,G,,12,36,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LAIR1,3903,19,54872826,54872827,Intron,INS,-,G,,10,42,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,ZNF587B,100293516,19,58352881,58352882,Frame_Shift_Ins,INS,-,T,c.(838-843)agtcaafs,3,45,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CHGB,1114,20,5903708,5903709,Frame_Shift_Ins,INS,-,TA,c.(919-921)cccfs,1,39,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,BMP2,650,20,6759156,6759157,Frame_Shift_Ins,INS,-,AT,c.(610-615)tgggaafs,5,34,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,HAO1,54363,20,7864197,7864198,3'UTR,INS,-,T,,5,20,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,C20orf26,0,20,20066049,20066050,Intron,DEL,AT,-,,8,10,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RALGAPA2,57186,20,20585823,20585824,Frame_Shift_Del,DEL,GC,-,c.(2032-2034)ggcfs,4,29,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,XRN2,22803,20,21367527,21367527,Frame_Shift_Del,DEL,G,-,c.(2668-2670)ctgfs,6,30,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,UQCC1,55245,20,33934793,33934793,Intron,DEL,T,-,,3,4,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,CPNE1,8904,20,34219184,34219185,Intron,INS,-,C,,3,31,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,LTN1,26046,21,30307448,30307448,Frame_Shift_Del,DEL,G,-,c.(4858-4860)ctafs,5,35,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,H1F0,3005,22,38202083,38202088,In_Frame_Del,DEL,CCAGTG,-,c.(532-537)ccagtgdel,3,168,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,DMC1,11144,22,38958333,38958334,Frame_Shift_Del,DEL,CC,-,c.(283-285)aggfs,7,48,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,TNRC6B,23112,22,40717124,40717125,Frame_Shift_Ins,INS,-,G,c.(5005-5007)atgfs,9,72,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,RGAG1,57529,X,109696419,109696420,In_Frame_Ins,INS,-,TCA,c.(2575-2577)tcc>TCAtcc,7,23,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,PHF6,84295,X,133548078,133548079,Intron,DEL,GA,-,,8,6,,
RP-1532_PCProject_0054_T2_v2_Exome_OnPrem,FMR1,2332,X,147014037,147014037,Frame_Shift_Del,DEL,C,-,c.(724-726)cagfs,7,12,,
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,H6PD,9563,1,9305338,9305338,Silent,SNP,G,A,c.(343-345)gaG>gaA,8,681,0,268
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,H6PD,9563,1,9324321,9324321,Missense_Mutation,SNP,C,T,c.(1768-1770)tCg>tTg,80,239,0,112
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,KIF17,57576,1,21013919,21013919,Missense_Mutation,SNP,C,A,c.(1900-1902)Gat>Tat,7,455,0,151
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,HSPG2,3339,1,22211368,22211368,Missense_Mutation,SNP,G,A,c.(1399-1401)Cgt>Tgt,8,1218,0,446
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,EPHA8,2046,1,22915453,22915453,Missense_Mutation,SNP,C,T,c.(1069-1071)Cgc>Tgc,7,741,0,224
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MYOM3,127294,1,24402758,24402758,Silent,SNP,G,A,c.(2590-2592)tcC>tcT,5,360,1,121
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,AIM1L,55057,1,26671492,26671492,5'Flank,SNP,C,A,,9,518,1,205
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,FAM46B,115572,1,27333020,27333020,Missense_Mutation,SNP,C,G,c.(691-693)caG>caC,6,410,0,163
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MAP3K6,9064,1,27683616,27683616,Intron,SNP,A,G,,6,413,0,111
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SESN2,83667,1,28598946,28598946,Missense_Mutation,SNP,G,A,c.(505-507)cGg>cAg,7,669,1,141
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SRSF4,6429,1,29487001,29487001,Missense_Mutation,SNP,G,A,c.(136-138)Cgt>Tgt,8,367,0,136
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MACF1,23499,1,39951259,39951259,Silent,SNP,C,A,c.(21958-21960)gcC>gcA,6,680,0,139
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CITED4,163732,1,41327292,41327292,Missense_Mutation,SNP,A,T,c.(508-510)Ttc>Atc,86,449,0,107
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CYB5RL,606495,1,54645834,54645834,Intron,SNP,T,C,,4,79,0,29
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,OMA1,115209,1,59004725,59004725,Missense_Mutation,SNP,C,A,c.(241-243)gGc>gTc,21,113,1,169
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,FAM19A3,284467,1,113266617,113266617,Intron,SNP,C,A,,8,972,0,217
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,HIPK1,204851,1,114506123,114506123,Missense_Mutation,SNP,G,A,c.(2218-2220)Gaa>Aaa,9,736,0,110
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PRUNE,58497,1,150999709,150999709,Splice_Site,SNP,G,A,c.(679-681)gGa>gAa,17,120,1,63
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PRUNE,58497,1,150999713,150999713,Silent,SNP,G,A,c.(682-684)ctG>ctA,16,131,0,68
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,LYSMD1,388695,1,151134498,151134498,Silent,SNP,G,A,c.(259-261)Ctg>Ttg,5,285,0,198
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TCHH,7062,1,152083451,152083451,Missense_Mutation,SNP,A,G,c.(2242-2244)Tgg>Cgg,93,458,0,150
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NPR1,4881,1,153651948,153651948,Missense_Mutation,SNP,G,A,c.(364-366)Gcc>Acc,10,1520,0,487
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,EFNA4,1945,1,155036315,155036315,Missense_Mutation,SNP,C,A,c.(16-18)Ctg>Atg,7,647,0,189
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SEMA4A,64218,1,156130831,156130831,Intron,SNP,T,G,,28,397,2,166
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,KCNJ9,3765,1,160054475,160054475,Missense_Mutation,SNP,G,A,c.(655-657)Gag>Aag,8,1221,0,300
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,DHX9,1660,1,182850725,182850725,Missense_Mutation,SNP,A,C,c.(2857-2859)Act>Cct,19,74,0,73
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,C1orf106,55765,1,200870164,200870164,Silent,SNP,C,A,c.(652-654)Cgg>Agg,9,1068,0,225
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,IGFN1,91156,1,201180124,201180124,Missense_Mutation,SNP,A,G,c.(6103-6105)Agg>Ggg,6,536,1,304
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,IGFN1,91156,1,201196178,201196178,Missense_Mutation,SNP,G,A,c.(10954-10956)cGc>cAc,10,1317,0,247
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PPFIA4,8497,1,203020973,203020973,Missense_Mutation,SNP,C,A,c.(1600-1602)Cgc>Agc,8,1146,0,198
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,KCNH1,3756,1,211093348,211093348,Missense_Mutation,SNP,G,A,c.(1096-1098)Cgt>Tgt,7,599,0,182
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ITPKB,3707,1,226924782,226924782,Missense_Mutation,SNP,C,A,c.(376-378)gaG>gaT,8,618,0,184
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,OBSCN,84033,1,228473970,228473970,Missense_Mutation,SNP,C,T,c.(9196-9198)Cgg>Tgg,7,704,0,163
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,OBSCN,84033,1,228527781,228527781,Silent,SNP,G,A,c.(17392-17394)acG>acA,6,706,1,196
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PXDN,7837,2,1652522,1652522,Silent,SNP,G,A,c.(3028-3030)gaC>gaT,11,1941,0,389
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MYT1L,23040,2,1926640,1926640,Missense_Mutation,SNP,T,C,c.(901-903)Atg>Gtg,76,309,0,189
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,KCNK3,3777,2,26950941,26950941,Silent,SNP,G,A,c.(688-690)acG>acA,7,646,0,192
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ATRAID,51374,2,27435186,27435186,5'UTR,SNP,G,A,,413,1087,0,398
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,UCN,7349,2,27530588,27530588,Missense_Mutation,SNP,G,A,c.(175-177)gCg>gTg,7,500,0,177
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,FEZ2,9637,2,36785599,36785599,Missense_Mutation,SNP,G,C,c.(961-963)Ctt>Gtt,11,50,0,69
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PKDCC,91461,2,42281328,42281328,Silent,SNP,G,A,c.(913-915)ccG>ccA,9,1411,0,258
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,THADA,63892,2,43393890,43393890,Silent,SNP,A,G,c.(3202-3204)tgT>tgC,5,102,0,27
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TSPYL6,388951,2,54483007,54483007,Silent,SNP,G,A,c.(280-282)ccC>ccT,7,993,0,252
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MOGS,7841,2,74689208,74689208,Missense_Mutation,SNP,G,C,c.(1708-1710)Cca>Gca,54,260,0,111
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TMEM131,23505,2,98373651,98373651,Missense_Mutation,SNP,T,A,c.(5563-5565)Acc>Tcc,9,459,0,128
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TMEM131,23505,2,98373652,98373652,Missense_Mutation,SNP,C,A,c.(5560-5562)caG>caT,9,459,0,129
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,INPP4A,3631,2,99181234,99181234,Intron,SNP,G,A,,6,225,0,89
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MAP4K4,9448,2,102486793,102486793,Silent,SNP,T,A,c.(2431-2433)tcT>tcA,8,388,0,136
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NCK2,8440,2,106498279,106498279,Missense_Mutation,SNP,G,A,c.(721-723)cGg>cAg,4,122,0,52
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SH3RF3,344558,2,109988055,109988055,Missense_Mutation,SNP,C,T,c.(862-864)aCg>aTg,7,529,0,135
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,AC114783.1,0,2,127657579,127657579,Missense_Mutation,SNP,C,G,c.(376-378)gaC>gaG,86,337,0,136
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NEB,4703,2,152353511,152353511,Intron,SNP,G,A,,6,288,0,303
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CALCRL,10203,2,188216640,188216640,Intron,SNP,A,T,,9,46,0,39
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TMEFF2,23671,2,193059228,193059228,Missense_Mutation,SNP,C,A,c.(22-24)cGg>cTg,6,440,0,110
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,UNC80,285175,2,210818841,210818841,Missense_Mutation,SNP,T,C,c.(7105-7107)gTc>gCc,44,158,0,62
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CXCR2,3579,2,218999955,218999955,Missense_Mutation,SNP,G,A,c.(430-432)cGt>cAt,7,636,0,187
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ANKZF1,55139,2,220098082,220098082,Missense_Mutation,SNP,G,A,c.(745-747)cGg>cAg,8,622,0,155
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,COL6A3,1293,2,238283233,238283233,Silent,SNP,G,A,c.(3499-3501)atC>atT,7,863,0,273
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,KLHL30,377007,2,239059583,239059583,Silent,SNP,G,A,c.(1612-1614)acG>acA,8,1449,0,352
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,Unknown,0,3,28578702,28578702,IGR,SNP,T,C,,4,123,0,48
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ITGA9,3680,3,37493893,37493893,Missense_Mutation,SNP,G,A,c.(28-30)Gcc>Acc,5,237,0,80
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SCN5A,6331,3,38645391,38645391,Missense_Mutation,SNP,G,A,c.(1702-1704)Cgc>Tgc,7,653,0,126
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CX3CR1,1524,3,39323167,39323167,5'Flank,SNP,G,A,,23,569,0,154
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PTPN23,25930,3,47453354,47453354,Missense_Mutation,SNP,C,A,c.(3970-3972)Cgc>Agc,8,769,0,166
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MAP4,4134,3,47953237,47953237,Intron,SNP,C,T,,5,115,0,114
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,BSN,8927,3,49694800,49694800,Missense_Mutation,SNP,C,T,c.(7810-7812)gCa>gTa,130,489,0,200
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ACY1,95,3,52022953,52022953,Silent,SNP,A,G,c.(1087-1089)tcA>tcG,28,1443,0,431
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,FAM107A,11170,3,58572665,58572665,5'UTR,SNP,C,T,,6,474,0,97
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,FILIP1L,11259,3,99643240,99643240,Missense_Mutation,SNP,C,T,c.(439-441)Gtg>Atg,27,186,0,162
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,Unknown,0,3,101241697,101241697,IGR,SNP,C,A,,10,113,0,163
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ADCY5,111,3,123166744,123166744,Missense_Mutation,SNP,G,A,c.(649-651)Cgc>Tgc,5,349,0,94
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MUC13,56667,3,124641134,124641134,Silent,SNP,C,T,c.(649-651)ggG>ggA,28,106,0,95
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PODXL2,50512,3,127358286,127358286,Missense_Mutation,SNP,G,A,c.(268-270)cGg>cAg,9,820,0,228
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,COL6A6,131873,3,130368058,130368058,Silent,SNP,C,T,c.(5383-5385)ccC>ccT,6,596,0,165
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,STAG1,10274,3,136117668,136117668,Missense_Mutation,SNP,C,G,c.(2200-2202)Gtc>Ctc,28,109,0,116
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,P2RY12,64805,3,151055836,151055836,Silent,SNP,A,G,c.(796-798)gaT>gaC,8,43,0,91
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,GOLIM4,27333,3,167747688,167747688,Missense_Mutation,SNP,C,A,c.(1312-1314)aGg>aTg,11,1559,0,370
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,EIF2B5,8893,3,183858423,183858423,Missense_Mutation,SNP,G,A,c.(1060-1062)aGc>aAc,8,605,0,180
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ALG3,10195,3,183963013,183963013,Missense_Mutation,SNP,C,T,c.(577-579)cGc>cAc,7,512,0,175
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF595,152687,4,86588,86588,3'UTR,SNP,T,C,,4,130,0,131
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF732,654254,4,265634,265634,Missense_Mutation,SNP,C,G,c.(1012-1014)Gaa>Caa,4,121,0,120
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,DGKQ,1609,4,955352,955352,Missense_Mutation,SNP,G,A,c.(2476-2478)gCc>gTc,7,637,0,149
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,RGS12,6002,4,3319207,3319207,Missense_Mutation,SNP,G,A,c.(1309-1311)cGg>cAg,6,421,0,110
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SORCS2,57537,4,7677879,7677879,Missense_Mutation,SNP,G,A,c.(1264-1266)Gtg>Atg,9,974,0,204
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,GPR78,27201,4,8588918,8588918,Missense_Mutation,SNP,G,A,c.(919-921)gGc>gAc,9,1554,0,316
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,COMMD8,54951,4,47462283,47462283,Nonsense_Mutation,SNP,G,A,c.(100-102)Cga>Tga,6,215,0,219
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SPATA18,132671,4,52946021,52946021,Missense_Mutation,SNP,C,A,c.(1291-1293)Cag>Aag,16,141,0,163
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NOA1,84273,4,57843387,57843387,Missense_Mutation,SNP,C,T,c.(364-366)cGg>cAg,6,599,0,197
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,GAB1,2549,4,144387286,144387286,Missense_Mutation,SNP,G,A,c.(1834-1836)Gga>Aga,4,128,1,146
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,AGA,175,4,178363566,178363566,5'UTR,SNP,C,A,,7,1199,0,319
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ACSL1,2180,4,185687799,185687799,Missense_Mutation,SNP,G,A,c.(1240-1242)Cgg>Tgg,69,304,0,91
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TPPP,11076,5,666107,666107,Missense_Mutation,SNP,G,A,c.(442-444)gCg>gTg,6,477,0,84
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,APC,324,5,112175255,112175255,Nonsense_Mutation,SNP,G,T,c.(3964-3966)Gaa>Taa,91,340,0,340
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,HSPA4,3308,5,132425379,132425379,Missense_Mutation,SNP,C,T,c.(1369-1371)cCt>cTt,4,87,0,82
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PCDHA9,9752,5,140242952,140242952,Intron,SNP,G,A,,7,487,0,131
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PCDHB5,26167,5,140516259,140516259,Missense_Mutation,SNP,G,A,c.(1243-1245)Gag>Aag,7,773,0,285
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PCDHB14,56122,5,140605017,140605017,Missense_Mutation,SNP,A,T,c.(1939-1941)aAt>aTt,135,671,0,524
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PPARGC1B,133522,5,149212999,149212999,Missense_Mutation,SNP,A,G,c.(1363-1365)Agg>Ggg,5,496,0,174
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,C1QTNF2,114898,5,159781888,159781888,Missense_Mutation,SNP,G,A,c.(265-267)cCa>cTa,6,413,0,118
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,RANBP17,64901,5,170338005,170338005,Silent,SNP,A,G,c.(625-627)caA>caG,5,143,0,201
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CDHR2,54825,5,176005572,176005572,Missense_Mutation,SNP,T,C,c.(1780-1782)gTc>gCc,6,637,0,247
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TRIM52,84851,5,180687418,180687418,Missense_Mutation,SNP,C,G,c.(397-399)Gac>Cac,5,286,0,195
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,EEF1E1,9521,6,8095643,8095643,Intron,SNP,C,G,,7,336,0,49
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,JARID2,3720,6,15496484,15496484,Missense_Mutation,SNP,C,T,c.(1027-1029)aCg>aTg,8,695,0,210
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PGBD1,84547,6,28264611,28264611,Missense_Mutation,SNP,G,A,c.(661-663)Gaa>Aaa,92,319,0,139
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TAP1,6890,6,32815314,32815314,Nonsense_Mutation,SNP,C,A,c.(2059-2061)Gga>Tga,7,514,0,274
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NFKBIE,4794,6,44233171,44233171,Missense_Mutation,SNP,T,G,c.(328-330)caA>caC,130,631,0,394
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SMPD2,6610,6,109764769,109764769,Silent,SNP,G,T,c.(931-933)acG>acT,5,191,0,71
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TRDN,10345,6,123892220,123892220,Missense_Mutation,SNP,G,C,c.(79-81)tCc>tGc,20,459,0,202
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MED23,9439,6,131943047,131943047,Missense_Mutation,SNP,C,T,c.(469-471)Gta>Ata,6,67,0,73
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,OLIG3,167826,6,137814819,137814819,Silent,SNP,G,T,c.(487-489)acC>acA,89,399,0,151
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,LRP11,84918,6,150184775,150184775,Missense_Mutation,SNP,G,A,c.(382-384)Cgg>Tgg,8,997,1,249
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PARK2,5071,6,161969952,161969952,Silent,SNP,C,A,c.(1015-1017)gcG>gcT,7,618,0,173
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,EVX1,2128,7,27285916,27285916,Missense_Mutation,SNP,G,A,c.(1096-1098)Gcc>Acc,9,1283,1,431
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,INHBA,3624,7,41729696,41729696,Missense_Mutation,SNP,C,T,c.(832-834)gGg>gAg,6,217,1,76
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,GLI3,2737,7,42005731,42005731,Silent,SNP,G,A,c.(2938-2940)agC>agT,7,908,0,293
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NACAD,23148,7,45125140,45125140,Silent,SNP,G,A,c.(637-639)ccC>ccT,8,557,0,124
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PHKG1,5260,7,56148812,56148812,Missense_Mutation,SNP,G,A,c.(1099-1101)Cgg>Tgg,9,1452,1,361
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF727,442319,7,63538824,63538824,Missense_Mutation,SNP,G,A,c.(1396-1398)aGc>aAc,5,150,0,138
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,KCTD7,154881,7,66238691,66238691,Missense_Mutation,SNP,T,C,c.(193-195)Tac>Cac,6,571,0,152
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,KCTD7,154881,7,66238696,66238696,Silent,SNP,T,A,c.(196-198)ccT>ccA,7,557,0,152
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CYP51A1,1595,7,91763625,91763625,Silent,SNP,C,A,c.(52-54)tcG>tcT,7,568,0,133
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,COL1A2,1278,7,94037160,94037160,Splice_Site,SNP,G,C,c.(595-597)gGt>gCt,54,104,0,142
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,DYNC1I1,1780,7,95439821,95439821,Intron,SNP,A,T,,86,154,0,56
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CYP3A43,64816,7,99447679,99447679,Intron,SNP,G,A,,10,470,0,91
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SPDYE3,441272,7,99905513,99905513,Missense_Mutation,SNP,C,T,c.(4-6)aCg>aTg,8,530,0,103
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,FBXO24,26261,7,100189400,100189400,Missense_Mutation,SNP,C,T,c.(433-435)Cac>Tac,32,1688,0,407
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SRRT,51593,7,100483394,100483394,Intron,SNP,C,A,,8,987,0,237
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,RELN,5649,7,103474119,103474119,Splice_Site,SNP,C,T,c.(337-339)gGg>gAg,95,559,0,345
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NRCAM,4897,7,107824949,107824949,Silent,SNP,C,T,c.(2143-2145)gtG>gtA,172,900,0,240
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ST7,7982,7,116774190,116774190,Missense_Mutation,SNP,A,T,c.(652-654)agA>agT,37,133,0,141
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,RP11-286H14.4,0,7,128767511,128767511,RNA,SNP,G,T,,125,611,0,179
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,C7orf33,202865,7,148311363,148311363,Missense_Mutation,SNP,G,A,c.(433-435)aGg>aAg,5,291,0,148
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF467,168544,7,149461654,149461654,3'UTR,SNP,C,T,,8,812,0,174
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,REPIN1,29803,7,150069000,150069000,Missense_Mutation,SNP,G,A,c.(670-672)Gcc>Acc,8,483,0,206
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,HTR5A,3361,7,154862097,154862097,5'UTR,SNP,G,A,,5,397,0,60
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SGK223,0,8,8175943,8175943,Silent,SNP,G,A,c.(3940-3942)atC>atT,8,773,0,257
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ANK1,286,8,41526004,41526004,Silent,SNP,G,C,c.(5173-5175)gtC>gtG,14,421,0,144
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NKAIN3,286183,8,63902739,63902739,Missense_Mutation,SNP,T,C,c.(544-546)cTg>cCg,4,29,0,42
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ADHFE1,137872,8,67365949,67365949,Intron,SNP,G,A,,7,649,0,125
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TMEM67,91147,8,94831290,94831290,IGR,SNP,A,C,,8,462,0,152
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MATN2,4147,8,99037866,99037866,Intron,SNP,T,C,,4,100,0,21
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,VPS13B,157680,8,100833662,100833662,Silent,SNP,G,A,c.(9208-9210)gcG>gcA,6,378,0,262
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,RIMS2,9699,8,104932989,104932989,Intron,SNP,G,A,,5,318,0,60
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PLEC,5339,8,144999709,144999709,Missense_Mutation,SNP,G,A,c.(4798-4800)gCc>gTc,245,1461,0,350
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,OPLAH,26873,8,145106689,145106689,Missense_Mutation,SNP,G,A,c.(3661-3663)Cgc>Tgc,8,1410,0,264
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,HSF1,3297,8,145532685,145532685,Silent,SNP,C,A,c.(211-213)Cgg>Agg,6,590,0,104
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MTAP,4507,9,21818052,21818052,Silent,SNP,C,T,c.(247-249)acC>acT,5,153,0,73
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,IL11RA,3590,9,34657518,34657518,Missense_Mutation,SNP,A,T,c.(580-582)Aat>Tat,236,1172,0,435
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,FAM166B,730112,9,35563353,35563353,Silent,SNP,G,A,c.(94-96)agC>agT,8,680,0,191
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SPATA31A6,389730,9,43627263,43627263,Missense_Mutation,SNP,C,T,c.(1423-1425)cGc>cAc,202,1045,1,583
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MAMDC2,256691,9,72746470,72746470,Silent,SNP,A,T,c.(934-936)ggA>ggT,20,102,0,138
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PHF2,5253,9,96437287,96437287,Missense_Mutation,SNP,C,T,c.(2704-2706)gCt>gTt,81,414,0,135
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,FANCC,2176,9,97885758,97885758,Intron,SNP,A,C,,8,358,0,121
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,FSD1L,83856,9,108297474,108297474,Missense_Mutation,SNP,C,A,c.(1252-1254)aCt>aAt,6,365,0,457
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,LMX1B,4010,9,129453191,129453191,Missense_Mutation,SNP,G,A,c.(403-405)Gtg>Atg,11,975,0,239
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,LRRC8A,56262,9,131670195,131670195,Missense_Mutation,SNP,G,A,c.(751-753)cGg>cAg,6,455,0,151
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NUP214,8021,9,134073309,134073309,Silent,SNP,C,T,c.(4426-4428)ctC>ctT,7,310,0,139
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ADAMTS13,11093,9,136314978,136314978,Missense_Mutation,SNP,G,A,c.(2935-2937)cGg>cAg,7,701,0,196
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NOTCH1,4851,9,139412292,139412292,Silent,SNP,G,A,c.(1351-1353)atC>atT,9,1134,0,291
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MAN1B1,11253,9,139980923,139980923,5'Flank,SNP,C,T,,5,185,0,66
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,AKR1C3,8644,10,5149670,5149670,Missense_Mutation,SNP,A,G,c.(946-948)aAt>aGt,9,92,0,84
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF438,220929,10,31134413,31134413,Missense_Mutation,SNP,G,A,c.(1963-1965)aCt>aTt,6,244,0,127
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,LRRTM3,347731,10,68687662,68687662,Missense_Mutation,SNP,T,C,c.(988-990)Ttt>Ctt,40,98,0,116
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ECD,11319,10,74896585,74896585,Silent,SNP,G,A,c.(1579-1581)caC>caT,10,349,0,342
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,FRAT1,10023,10,99079722,99079722,Missense_Mutation,SNP,G,A,c.(511-513)gGa>gAa,7,652,0,218
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ABCC2,1244,10,101605454,101605454,Missense_Mutation,SNP,C,T,c.(4060-4062)gCc>gTc,87,609,1,325
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PAX2,5076,10,102510631,102510631,Missense_Mutation,SNP,C,A,c.(391-393)agC>agA,10,1032,0,284
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PAX2,5076,10,102539296,102539296,Missense_Mutation,SNP,C,A,c.(451-453)cCg>cAg,10,1404,0,386
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,FAM178A,55719,10,102685941,102685941,Intron,SNP,T,C,,6,80,0,56
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PPRC1,23082,10,103906965,103906965,Nonsense_Mutation,SNP,C,T,c.(4216-4218)Cga>Tga,7,781,0,260
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TRIM8,81603,10,104404555,104404555,Nonsense_Mutation,SNP,C,T,c.(181-183)Cag>Tag,18,1606,0,479
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ITPRIP,85450,10,106074990,106074990,Missense_Mutation,SNP,T,C,c.(820-822)Aac>Gac,47,187,0,82
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ADRA2A,150,10,112838138,112838138,Silent,SNP,C,T,c.(382-384)gaC>gaT,8,585,0,193
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ACSL5,51703,10,114170334,114170334,Intron,SNP,T,C,,86,287,0,175
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MGMT,4255,10,131565107,131565107,Missense_Mutation,SNP,A,G,c.(562-564)aAc>aGc,139,691,0,209
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,JAKMIP3,282973,10,133931083,133931083,Intron,SNP,G,A,,5,112,0,60
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,AP2A2,161,11,994134,994134,Silent,SNP,C,A,c.(1843-1845)ctC>ctA,8,534,0,172
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,DCHS1,8642,11,6651800,6651800,Missense_Mutation,SNP,C,A,c.(4225-4227)Gct>Tct,7,633,0,205
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,RP11-113D6.6,0,11,18210579,18210579,Silent,SNP,G,A,c.(337-339)agC>agT,8,1331,1,430
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,OR4C13,283092,11,49974489,49974489,Missense_Mutation,SNP,T,G,c.(514-516)aTa>aGa,38,112,0,157
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SERPING1,710,11,57381923,57381923,Missense_Mutation,SNP,G,A,c.(1372-1374)Gca>Aca,9,786,0,239
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,INCENP,3619,11,61906451,61906451,Missense_Mutation,SNP,C,A,c.(1264-1266)cCg>cAg,7,813,1,166
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SLC3A2,6520,11,62639041,62639041,Intron,SNP,A,T,,7,208,1,108
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SLC22A11,55867,11,64335249,64335249,Missense_Mutation,SNP,G,A,c.(1237-1239)Ggc>Agc,11,954,0,208
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZFPL1,7542,11,64854064,64854064,Missense_Mutation,SNP,G,T,c.(391-393)gGa>gTa,56,285,0,124
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SYVN1,84447,11,64896179,64896179,Missense_Mutation,SNP,G,A,c.(1603-1605)Cgg>Tgg,5,333,0,71
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,EHBP1L1,254102,11,65352594,65352594,Silent,SNP,C,A,c.(3463-3465)ggC>ggA,5,279,0,89
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TMEM151A,256472,11,66062357,66062357,Missense_Mutation,SNP,G,A,c.(640-642)Gcg>Acg,109,616,0,220
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,LRP5,4041,11,68131402,68131402,Missense_Mutation,SNP,C,A,c.(874-876)Cag>Aag,6,329,0,125
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CPT1A,1374,11,68552321,68552321,Silent,SNP,G,A,c.(1123-1125)ccC>ccT,9,880,0,177
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TPCN2,219931,11,68840173,68840173,Missense_Mutation,SNP,G,T,c.(1138-1140)atG>atT,187,416,0,115
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CHRDL2,25884,11,74413950,74413950,Missense_Mutation,SNP,G,A,c.(1009-1011)Cgg>Tgg,6,630,0,145
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ENDOD1,23052,11,94862375,94862375,Missense_Mutation,SNP,C,G,c.(1135-1137)Ctg>Gtg,149,297,0,153
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,AP001024.2,0,11,107643267,107643267,Missense_Mutation,SNP,C,G,c.(139-141)Cag>Gag,7,269,0,74
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SIK3,23387,11,116767077,116767077,Missense_Mutation,SNP,G,A,c.(583-585)Ctc>Ttc,6,442,0,121
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,DDX6,1656,11,118629496,118629496,Missense_Mutation,SNP,G,T,c.(979-981)aCa>aAa,5,96,0,58
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NLRX1,79671,11,119044577,119044577,Missense_Mutation,SNP,C,A,c.(619-621)Cct>Act,8,693,0,225
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TECTA,7007,11,121000789,121000789,Missense_Mutation,SNP,G,A,c.(2809-2811)cGc>cAc,6,500,0,128
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MSANTD2,79684,11,124669995,124669995,Silent,SNP,G,T,c.(280-282)gcC>gcA,6,541,1,192
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ST14,6768,11,130068964,130068964,Splice_Site,SNP,G,A,c.(1807-1809)Gac>Aac,10,1133,0,312
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,IGSF9B,22997,11,133805545,133805545,Missense_Mutation,SNP,A,G,c.(934-936)Tcc>Ccc,6,568,1,111
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ERC1,23085,12,1353735,1353735,Intron,SNP,A,T,,6,368,0,140
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SCNN1A,6337,12,6484762,6484762,5'Flank,SNP,T,G,,11,208,1,84
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF384,171017,12,6781650,6781650,Silent,SNP,C,T,c.(958-960)ccG>ccA,7,725,0,166
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TMEM52B,120939,12,10339018,10339018,Splice_Site,SNP,G,A,c.e5-1,52,194,0,48
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TMTC1,83857,12,29819200,29819200,Intron,SNP,A,G,,4,99,1,35
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ADCY6,112,12,49165363,49165363,Intron,SNP,T,C,,39,170,0,92
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SPATS2,65244,12,49918534,49918534,Missense_Mutation,SNP,G,C,c.(1180-1182)aGc>aCc,114,534,0,238
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TFCP2,7024,12,51518430,51518430,Intron,SNP,G,A,,6,324,0,136
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,GALNT6,11226,12,51771046,51771046,Silent,SNP,G,A,c.(595-597)agC>agT,172,821,0,253
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SCN8A,6334,12,52168095,52168095,Silent,SNP,C,T,c.(3766-3768)ttC>ttT,4,99,0,50
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,RP11-923I11.6,0,12,52215924,52215924,lincRNA,SNP,C,A,,11,1470,0,403
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,BAZ2A,11176,12,56992974,56992974,Missense_Mutation,SNP,A,G,c.(5347-5349)Tcc>Ccc,7,776,1,211
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SLC26A10,65012,12,58016818,58016818,Silent,SNP,A,T,c.(949-951)gcA>gcT,91,297,0,139
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PLXNC1,10154,12,94654592,94654592,Silent,SNP,C,T,c.(3424-3426)tcC>tcT,6,390,0,173
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TAOK3,51347,12,118675943,118675943,Silent,SNP,G,A,c.(370-372)atC>atT,11,69,0,96
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF268,10795,12,133761245,133761245,Intron,SNP,T,C,,5,209,0,53
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,IFT88,8100,13,21237655,21237655,Missense_Mutation,SNP,G,T,c.(2113-2115)cGt>cTt,4,110,1,118
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SGCG,6445,13,23777868,23777868,Missense_Mutation,SNP,G,T,c.(34-36)gGc>gTc,85,370,0,301
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ATP8A2,51761,13,26117464,26117464,Missense_Mutation,SNP,G,T,c.(814-816)aGa>aTa,14,49,0,97
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,DACH1,1602,13,72256034,72256034,Missense_Mutation,SNP,G,A,c.(862-864)cCt>cTt,5,76,0,109
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TFDP1,7027,13,114292123,114292123,Intron,SNP,C,A,,8,802,0,290
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,OR4M1,441670,14,20249215,20249215,Missense_Mutation,SNP,A,G,c.(733-735)cAc>cGc,29,194,0,294
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,LRP10,26020,14,23346328,23346328,Silent,SNP,C,A,c.(1732-1734)gcC>gcA,6,316,0,75
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,AP1G2,8906,14,24029050,24029050,Missense_Mutation,SNP,G,A,c.(2266-2268)Cgg>Tgg,8,622,0,161
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,LRRC16B,90668,14,24532067,24532067,Intron,SNP,G,A,,6,156,0,52
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,IPO4,79711,14,24653274,24653274,Missense_Mutation,SNP,C,G,c.(1798-1800)gGc>gCc,14,778,0,190
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,AP4S1,11154,14,31552768,31552768,Intron,SNP,A,T,,6,363,0,91
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZFYVE26,23503,14,68219201,68219201,Missense_Mutation,SNP,G,A,c.(7231-7233)Cgc>Tgc,9,911,1,335
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,GALC,2581,14,88459400,88459400,Silent,SNP,G,A,c.(109-111)Ctg>Ttg,8,843,0,234
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,DYNC1H1,1778,14,102494100,102494100,Missense_Mutation,SNP,G,A,c.(9193-9195)Gtg>Atg,13,2322,0,507
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,JAG2,3714,14,105622219,105622219,Missense_Mutation,SNP,G,A,c.(583-585)Cgc>Tgc,11,1699,0,310
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TRPM1,4308,15,31318435,31318435,Missense_Mutation,SNP,T,A,c.(3535-3537)gAg>gTg,29,1668,1,427
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,AQR,9716,15,35212604,35212604,Missense_Mutation,SNP,G,A,c.(1150-1152)Ctc>Ttc,34,179,0,147
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,GPR176,11245,15,40094345,40094345,Missense_Mutation,SNP,G,A,c.(535-537)gCa>gTa,81,332,0,131
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,IVD,3712,15,40698081,40698081,Missense_Mutation,SNP,G,T,c.(52-54)cGg>cTg,7,678,0,218
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CASC5,57082,15,40903074,40903074,Splice_Site,SNP,G,A,c.(328-330)Gaa>Aaa,7,318,0,110
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,EPB42,2038,15,43501568,43501568,Missense_Mutation,SNP,G,A,c.(736-738)Cgg>Tgg,8,539,0,155
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,IGDCC4,57722,15,65689288,65689288,Missense_Mutation,SNP,C,T,c.(880-882)cGc>cAc,7,612,0,145
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NOX5,79400,15,69328202,69328202,Missense_Mutation,SNP,G,C,c.(1114-1116)Gtc>Ctc,6,719,0,179
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NPTN,27020,15,73889636,73889636,Missense_Mutation,SNP,C,A,c.(166-168)Ggg>Tgg,6,558,0,188
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ISLR2,57611,15,74426971,74426971,Missense_Mutation,SNP,C,A,c.(1876-1878)Cgt>Agt,7,538,0,223
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,LINGO1,84894,15,77906740,77906740,Silent,SNP,G,A,c.(1507-1509)ggC>ggT,8,493,0,192
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TBL3,10607,16,2024838,2024838,Missense_Mutation,SNP,G,A,c.(454-456)Ggt>Agt,7,894,0,207
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TBC1D24,57465,16,2546553,2546553,Missense_Mutation,SNP,C,T,c.(403-405)cCg>cTg,8,1112,0,343
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ADCY9,115,16,4164928,4164928,Silent,SNP,G,A,c.(514-516)taC>taT,8,694,0,205
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NAGPA,51172,16,5078125,5078125,Missense_Mutation,SNP,G,A,c.(982-984)Cgc>Tgc,8,858,0,216
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,DNAH3,55567,16,20996675,20996675,Missense_Mutation,SNP,G,T,c.(7387-7389)aaC>aaA,73,285,0,141
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ERN2,10595,16,23724479,23724479,Silent,SNP,C,T,c.(28-30)ccG>ccA,8,1063,0,270
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ARHGAP17,55114,16,24931492,24931492,Silent,SNP,G,A,c.(2605-2607)Ctg>Ttg,7,532,0,136
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,APOBR,55911,16,28507336,28507336,Missense_Mutation,SNP,G,A,c.(973-975)gGg>gAg,4,84,0,25
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,LAT,27040,16,28996235,28996235,5'Flank,SNP,C,G,,5,332,1,84
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF689,115509,16,30621299,30621299,Missense_Mutation,SNP,T,C,c.(64-66)Agg>Ggg,6,864,0,277
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SETD1A,9739,16,30982823,30982823,Silent,SNP,C,G,c.(3139-3141)tcC>tcG,9,581,0,168
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,Unknown,0,16,31985547,31985547,IGR,SNP,C,T,,4,51,0,27
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ABCC12,94160,16,48145806,48145806,Missense_Mutation,SNP,C,T,c.(2005-2007)Gat>Aat,25,106,0,85
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF423,23090,16,49670226,49670226,Missense_Mutation,SNP,C,T,c.(2836-2838)cGg>cAg,7,917,1,194
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CYLD,1540,16,50788289,50788289,Silent,SNP,G,A,c.(865-867)gcG>gcA,8,352,0,287
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CPNE2,221184,16,57149467,57149467,Intron,SNP,C,T,,5,167,0,67
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,EDC4,23644,16,67912754,67912754,Intron,SNP,T,C,,64,291,0,126
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NRN1L,123904,16,67920009,67920009,Silent,SNP,C,T,c.(343-345)tgC>tgT,10,1675,0,436
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MAF,4094,16,79632747,79632747,Missense_Mutation,SNP,C,A,c.(1051-1053)ttG>ttT,8,933,0,319
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MTHFSD,64779,16,86565981,86565981,Missense_Mutation,SNP,G,A,c.(787-789)cCg>cTg,5,149,0,54
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CBFA2T3,863,16,89017469,89017469,Intron,SNP,G,A,,11,1458,1,564
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,VPS9D1,9605,16,89777825,89777825,Intron,SNP,G,A,,5,288,0,104
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,FANCA,2175,16,89865623,89865623,Missense_Mutation,SNP,C,A,c.(844-846)Gct>Tct,12,1013,0,417
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,GAS8,2622,16,90095760,90095760,Intron,SNP,G,T,,5,227,0,72
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ATP2A3,489,17,3832739,3832739,Splice_Site,SNP,G,A,c.(2743-2745)agC>agT,7,400,1,88
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF594,84622,17,5085072,5085072,3'UTR,SNP,T,C,,6,291,0,288
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TP53,7157,17,7578527,7578527,Missense_Mutation,SNP,A,G,c.(403-405)Tgc>Cgc,95,361,0,208
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,WRAP53,55135,17,7606368,7606368,Silent,SNP,G,A,c.(1324-1326)acG>acA,8,998,0,356
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,KSR1,8844,17,25928400,25928400,Missense_Mutation,SNP,C,T,c.(1483-1485)Cat>Tat,25,190,0,81
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NEK8,284086,17,27064442,27064442,Missense_Mutation,SNP,G,A,c.(736-738)cGg>cAg,8,998,0,280
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SRCIN1,80725,17,36700208,36700208,Intron,SNP,C,A,,8,324,0,115
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,C17orf96,100170841,17,36830673,36830673,Silent,SNP,G,T,c.(76-78)Cgg>Agg,7,532,0,147
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PNMT,5409,17,37824863,37824863,Silent,SNP,G,A,c.(133-135)ggG>ggA,8,1022,0,249
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,KRTAP4-9,100132386,17,39261882,39261882,Missense_Mutation,SNP,G,A,c.(241-243)cGc>cAc,10,1109,0,435
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ARHGAP27,201176,17,43507192,43507192,Missense_Mutation,SNP,G,A,c.(454-456)Cgg>Tgg,8,655,0,224
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PLEKHM1,9842,17,43514780,43514780,3'UTR,SNP,G,A,,10,1352,1,550
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ABCC3,8714,17,48738455,48738455,Missense_Mutation,SNP,C,A,c.(976-978)ttC>ttA,6,251,0,59
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NOL11,25926,17,65733645,65733645,Nonsense_Mutation,SNP,G,T,c.(1240-1242)Gaa>Taa,4,34,0,41
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SPHK1,8877,17,74383301,74383301,Silent,SNP,G,A,c.(787-789)ctG>ctA,34,931,0,282
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ENGASE,64772,17,77078026,77078026,Silent,SNP,C,A,c.(919-921)Cgg>Agg,31,513,0,121
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,FSCN2,25794,17,79504044,79504044,Missense_Mutation,SNP,G,A,c.(1417-1419)Gcc>Acc,8,717,0,203
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,USP14,9097,18,204653,204653,Silent,SNP,G,A,c.(1123-1125)aaG>aaA,14,67,0,115
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CNDP1,84735,18,72229295,72229295,Silent,SNP,A,C,c.(478-480)ggA>ggC,92,294,0,131
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SALL3,27164,18,76754703,76754703,Silent,SNP,C,A,c.(2710-2712)gcC>gcA,6,463,0,142
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,POLRMT,5442,19,621269,621269,Missense_Mutation,SNP,G,A,c.(2428-2430)cCg>cTg,9,1285,0,473
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TMEM259,91304,19,1014295,1014295,Missense_Mutation,SNP,C,T,c.(403-405)Ggg>Agg,6,786,0,272
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MBD3,53615,19,1581170,1581170,Missense_Mutation,SNP,C,T,c.(598-600)Gtg>Atg,8,969,0,287
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,EBI3,10148,19,4233310,4233310,Intron,SNP,T,G,,14,150,0,59
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CATSPERD,257062,19,5772262,5772262,Intron,SNP,A,G,,4,67,1,25
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ELAVL1,1994,19,8032636,8032636,Missense_Mutation,SNP,G,A,c.(469-471)Cgg>Tgg,7,350,0,118
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,FBN3,84467,19,8131133,8131133,Silent,SNP,G,A,c.(8098-8100)gcC>gcT,4,109,0,47
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF317,57693,19,9271429,9271429,Missense_Mutation,SNP,G,A,c.(1108-1110)Gcc>Acc,80,463,0,164
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,OR7D4,125958,19,9324789,9324789,Missense_Mutation,SNP,C,A,c.(724-726)gGa>gTa,39,279,0,173
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,RDH8,50700,19,10132324,10132324,Nonsense_Mutation,SNP,C,T,c.(835-837)Cga>Tga,7,948,0,266
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,DNMT1,1786,19,10265302,10265302,Missense_Mutation,SNP,G,C,c.(1744-1746)Cgg>Ggg,146,542,0,232
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PRKCSH,5589,19,11560171,11560171,Missense_Mutation,SNP,G,A,c.(1531-1533)Gcc>Acc,9,1142,0,290
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ECSIT,51295,19,11624829,11624829,Missense_Mutation,SNP,G,A,c.(304-306)Cgt>Tgt,10,1383,0,324
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF20,7568,19,12250992,12250992,Intron,SNP,C,T,,8,846,0,237
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MAN2B1,4125,19,12759997,12759997,Missense_Mutation,SNP,G,A,c.(2389-2391)Cgc>Tgc,9,1490,0,419
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,C19orf43,79002,19,12845461,12845461,Missense_Mutation,SNP,C,A,c.(10-12)cGa>cTa,7,551,0,160
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CACNA1A,773,19,13318378,13318378,Missense_Mutation,SNP,C,T,c.(7270-7272)Ggg>Agg,6,505,0,124
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CLEC17A,388512,19,14721002,14721002,Silent,SNP,C,A,c.(1129-1131)tcC>tcA,5,182,0,82
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CPAMD8,27151,19,17008715,17008715,Missense_Mutation,SNP,C,A,c.(5080-5082)Gac>Tac,8,838,0,185
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MYO9B,4650,19,17306120,17306120,Missense_Mutation,SNP,C,T,c.(3883-3885)aCg>aTg,11,1788,0,468
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF90,7643,19,20229952,20229952,Missense_Mutation,SNP,T,G,c.(1588-1590)aTt>aGt,6,163,0,208
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF729,100287226,19,22497588,22497588,Missense_Mutation,SNP,G,A,c.(1369-1371)Gag>Aag,6,187,0,272
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PSMD8,5714,19,38865435,38865435,Missense_Mutation,SNP,C,T,c.(193-195)gCg>gTg,7,790,0,227
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF526,116115,19,42730131,42730131,Missense_Mutation,SNP,C,T,c.(1576-1578)Cgt>Tgt,12,1668,0,459
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PRR12,57479,19,50100406,50100406,Silent,SNP,G,A,c.(2812-2814)ttG>ttA,23,1183,0,360
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SCAF1,58506,19,50156821,50156821,Missense_Mutation,SNP,C,A,c.(3175-3177)Ccc>Acc,5,229,0,48
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,IRF3,3661,19,50164047,50164047,Missense_Mutation,SNP,G,A,c.(1021-1023)Cgc>Tgc,110,598,0,193
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NR1H2,7376,19,50881640,50881640,Missense_Mutation,SNP,G,A,c.(415-417)cGc>cAc,6,193,0,80
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SIGLEC10,89790,19,51920662,51920662,Missense_Mutation,SNP,G,A,c.(94-96)cCg>cTg,5,240,0,91
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF841,284371,19,52569748,52569748,Missense_Mutation,SNP,C,A,c.(1039-1041)Ggc>Tgc,4,60,0,83
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF347,84671,19,53644290,53644290,Silent,SNP,A,G,c.(1789-1791)taT>taC,4,121,0,122
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PRPF31,26121,19,54629957,54629957,Missense_Mutation,SNP,C,A,c.(910-912)Cgt>Agt,11,1347,1,319
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SSC5D,284297,19,56006029,56006029,Silent,SNP,C,G,c.(1264-1266)tcC>tcG,102,374,0,79
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SSC5D,284297,19,56030196,56030196,Missense_Mutation,SNP,G,A,c.(4552-4554)cGc>cAc,10,1134,1,287
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZIM2,23619,19,57286506,57286506,Missense_Mutation,SNP,A,T,c.(1132-1134)caT>caA,10,322,1,199
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SMOX,54498,20,4158120,4158120,Missense_Mutation,SNP,C,T,c.(331-333)Cgc>Tgc,168,1335,0,307
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,GZF1,64412,20,23346043,23346043,Silent,SNP,C,T,c.(1021-1023)ggC>ggT,7,595,0,117
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NAPB,63908,20,23401989,23401989,Silent,SNP,G,T,c.(49-51)gcC>gcA,7,817,0,194
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,AHCY,191,20,32881919,32881919,Missense_Mutation,SNP,G,A,c.(262-264)gCg>gTg,10,1777,1,485
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,EMILIN3,90187,20,39990924,39990924,Nonsense_Mutation,SNP,C,A,c.(1285-1287)Gag>Tag,5,296,0,74
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PIGT,51604,20,44054298,44054298,Silent,SNP,C,T,c.(1567-1569)agC>agT,172,956,0,289
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,KCNG1,3755,20,49626616,49626616,Missense_Mutation,SNP,G,A,c.(259-261)aCg>aTg,11,1590,0,313
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,MTG2,26164,20,60768622,60768622,Missense_Mutation,SNP,C,T,c.(145-147)gCg>gTg,9,1199,0,207
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TPD52L2,7165,20,62508377,62508377,Intron,SNP,G,T,,9,451,0,133
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,DNAJC5,80331,20,62562849,62562849,Silent,SNP,G,A,c.(523-525)ccG>ccA,10,1825,0,368
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,RWDD2B,10069,21,30378895,30378895,Missense_Mutation,SNP,G,A,c.(802-804)aCg>aTg,10,65,0,88
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,UMODL1,89766,21,43543228,43543228,Missense_Mutation,SNP,G,A,c.(3115-3117)Ggc>Agc,5,248,0,84
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PTTG1IP,754,21,46271302,46271302,3'UTR,SNP,G,C,,80,350,0,128
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PCBP3,54039,21,47321010,47321010,Missense_Mutation,SNP,G,A,c.(322-324)Gca>Aca,8,493,0,130
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CCT8L2,150160,22,17073231,17073231,Silent,SNP,C,T,c.(208-210)acG>acA,6,389,0,144
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,HIRA,7290,22,19343376,19343376,Missense_Mutation,SNP,G,A,c.(2467-2469)aCg>aTg,6,290,0,99
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,5-Sep,5413,22,19704846,19704846,Intron,SNP,A,C,,37,731,0,208
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,C22orf29,79680,22,19839544,19839544,Missense_Mutation,SNP,G,A,c.(241-243)Ccc>Tcc,142,727,0,256
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,RTN4R,65078,22,20229977,20229977,Missense_Mutation,SNP,G,A,c.(679-681)Cgc>Tgc,49,2155,1,632
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,RAB36,9609,22,23487627,23487627,Silent,SNP,G,T,c.(73-75)tcG>tcT,7,871,0,191
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,IGLL1,3543,22,23915554,23915554,Silent,SNP,G,A,c.(541-543)Ctg>Ttg,228,1218,0,471
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,IGLL1,3543,22,23917175,23917175,Missense_Mutation,SNP,C,T,c.(301-303)Ggg>Agg,9,1216,0,302
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,BAIAP2L2,80115,22,38484865,38484865,Silent,SNP,C,T,c.(1006-1008)tcG>tcA,7,1000,0,244
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PLA2G6,8398,22,38511612,38511612,Silent,SNP,G,A,c.(1954-1956)gaC>gaT,10,1039,0,300
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NPTXR,23467,22,39224502,39224502,Missense_Mutation,SNP,G,A,c.(640-642)Cgt>Tgt,6,322,0,131
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CELSR1,9620,22,46777880,46777880,Silent,SNP,G,A,c.(6949-6951)acC>acT,6,398,1,131
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CELSR1,9620,22,46860034,46860034,Silent,SNP,G,A,c.(3751-3753)acC>acT,9,1106,0,361
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TRABD,80305,22,50639848,50639848,IGR,SNP,C,T,,6,319,0,120
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TUBGCP6,85378,22,50657734,50657734,Silent,SNP,C,T,c.(4465-4467)acG>acA,5,235,0,101
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SHOX,6473,X,601550,601550,Intron,SNP,C,T,,140,737,0,312
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZBED1,9189,X,2408590,2408590,Silent,SNP,G,A,c.(169-171)tcC>tcT,8,918,0,260
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TBC1D25,4943,X,48418106,48418106,Silent,SNP,C,T,c.(808-810)agC>agT,7,514,0,99
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,RBM3,5935,X,48432895,48432895,5'Flank,SNP,C,T,,4,94,0,35
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PAGE1,8712,X,49458720,49458720,Missense_Mutation,SNP,C,T,c.(148-150)Gga>Aga,5,166,0,66
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ATP2B3,492,X,152815559,152815559,Silent,SNP,C,A,c.(1636-1638)gcC>gcA,6,414,0,95
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,PDZD4,57595,X,153069349,153069349,Missense_Mutation,SNP,G,A,c.(1768-1770)aCg>aTg,7,193,0,64
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,LIN28A,79727,1,26737891,26737926,In_Frame_Del,DEL,GCGGCAGAAGAGGCGCCCGAGGAGGCGCCGGAGGAC,-,c.(46-81)gcggcagaagaggcgcccgaggaggcgccggaggacdel,9,819,,
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,BRDT,676,1,92433831,92433832,Intron,DEL,TA,-,,5,21,,
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TGFB2,7042,1,218609507,218609507,Intron,DEL,A,-,,19,41,,
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,FSHR,2492,2,49381659,49381678,5'UTR,DEL,TGAGAACTGGTAGGGTCATG,-,,7,76,,
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,ZNF621,285268,3,40567376,40567376,Intron,DEL,T,-,,65,250,,
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,RYBP,23429,3,72427621,72427621,Frame_Shift_Del,DEL,G,-,c.(865-867)ctcfs,226,949,,
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,BTNL8,79908,5,180374419,180374420,Intron,INS,-,G,,0,0,,
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,SYNE1,23345,6,152660612,152660613,Intron,INS,-,TGA,,3,14,,
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,CDC123,8872,10,12277184,12277185,Intron,INS,-,A,,8,27,,
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,TMPRSS5,80975,11,113570390,113570390,Frame_Shift_Del,DEL,G,-,c.(130-132)tccfs,150,813,,
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,AP1G2,8906,14,24031658,24031668,Intron,DEL,CAAGTCCTGTC,-,,67,272,,
RP-1532_PCProject_0056_T1_v4_Exome_OnPrem,NEMF,9147,14,50256187,50256188,Intron,INS,-,A,,20,57,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,EIF4G3,8672,1,21191668,21191668,Missense_Mutation,SNP,C,T,c.(2542-2544)Gat>Aat,6,145,0,144
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,MYCL,4610,1,40366904,40366904,Missense_Mutation,SNP,C,A,c.(202-204)tGc>tTc,4,50,0,58
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,PTGER3,5733,1,71349742,71349742,Intron,SNP,T,C,,7,54,0,31
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,Unknown,0,1,173644491,173644491,IGR,SNP,T,C,,4,45,0,37
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,IKBKE,9641,1,206666366,206666366,Missense_Mutation,SNP,G,A,c.(1846-1848)Gag>Aag,5,78,0,67
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,ZNF678,339500,1,227843257,227843257,Missense_Mutation,SNP,A,G,c.(1306-1308)Aaa>Gaa,5,95,1,109
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,Unknown,0,1,248285444,248285444,IGR,SNP,G,A,,8,23,0,71
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,SPAST,6683,2,32323909,32323909,Missense_Mutation,SNP,G,A,c.(631-633)Gtc>Atc,6,149,1,200
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,GEMIN6,79833,2,39006489,39006489,Intron,SNP,T,C,,4,38,0,32
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,IL18R1,8809,2,103013020,103013020,Missense_Mutation,SNP,G,C,c.(1300-1302)Gag>Cag,4,25,0,54
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,PTPN18,26469,2,131119811,131119811,Intron,SNP,A,G,,6,32,0,58
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,BBS5,129880,2,170336062,170336062,5'UTR,SNP,C,G,,5,174,1,133
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,SLC16A14,151473,2,230931433,230931433,Intron,SNP,T,C,,5,70,0,74
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,MROH2A,339766,2,234730788,234730788,Nonsense_Mutation,SNP,G,A,c.(3529-3531)tgG>tgA,6,39,0,61
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,SLC6A11,6538,3,10980079,10980079,Silent,SNP,G,A,c.(1888-1890)acG>acA,6,15,0,33
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,STAC,6769,3,36534697,36534697,Missense_Mutation,SNP,G,T,c.(742-744)Gac>Tac,12,94,0,99
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,CCR9,10803,3,45942664,45942664,Missense_Mutation,SNP,G,C,c.(382-384)atG>atC,5,72,0,110
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,MME,4311,3,154860085,154860085,Missense_Mutation,SNP,G,A,c.(1153-1155)cGa>cAa,24,94,0,180
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,ZRSR1,7310,5,112228651,112228651,Missense_Mutation,SNP,G,A,c.(1315-1317)Ggc>Agc,25,134,0,157
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,ACSL6,23305,5,131321100,131321100,Splice_Site,SNP,C,T,c.(841-843)Ggg>Agg,5,115,0,169
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,PCDHA2,56146,5,140176161,140176161,Silent,SNP,C,A,c.(1612-1614)Cgg>Agg,66,409,0,367
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,DBN1,1627,5,176893786,176893786,Missense_Mutation,SNP,T,A,c.(757-759)gAg>gTg,39,216,0,175
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,REV3L,5980,6,111629391,111629391,Intron,SNP,A,T,,4,17,1,30
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,Unknown,0,6,139071358,139071358,IGR,SNP,T,C,,3,19,0,8
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,Unknown,0,6,139071364,139071364,IGR,SNP,T,C,,3,15,0,8
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,SNX13,23161,7,17922503,17922503,Silent,SNP,A,G,c.(502-504)gcT>gcC,4,76,0,54
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,KCTD7,154881,7,66238678,66238678,Splice_Site,SNP,G,A,c.(178-180)cgG>cgA,6,172,0,98
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,CYP3A43,64816,7,99436330,99436330,Intron,SNP,T,C,,6,105,0,60
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,MYL10,93408,7,101272318,101272318,Intron,SNP,T,C,,5,110,0,52
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,CUX1,1523,7,101918519,101918519,Splice_Site,SNP,A,G,c.(1444-1446)ggA>ggG,4,36,0,41
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,HBP1,26959,7,106836821,106836821,Intron,SNP,A,C,,4,31,0,27
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,POT1,25913,7,124503552,124503552,Missense_Mutation,SNP,A,C,c.(397-399)gTa>gGa,46,154,0,241
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,METTL2B,55798,7,128142681,128142681,3'UTR,SNP,G,A,,6,142,0,87
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,TMEM139,135932,7,142983220,142983220,Missense_Mutation,SNP,G,A,c.(169-171)cGg>cAg,6,207,0,245
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,PRKAG2,51422,7,151504013,151504013,Intron,SNP,T,C,,8,73,1,65
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,Unknown,0,8,101669991,101669991,IGR,SNP,T,C,,6,196,0,156
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,RIMS2,9699,8,104932988,104932988,Intron,SNP,C,T,,5,64,0,60
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,MROH6,642475,8,144654872,144654872,Missense_Mutation,SNP,C,T,c.(13-15)Gtg>Atg,3,6,0,27
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,IFT74,80173,9,26982372,26982372,Intron,SNP,T,C,,5,111,1,73
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,HERC4,26091,10,69755801,69755801,Intron,SNP,A,G,,4,13,0,20
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,TUBGCP2,10844,10,135110847,135110847,Intron,SNP,T,A,,5,39,1,46
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,OR52B1P,81274,11,6173620,6173620,Missense_Mutation,SNP,C,T,c.(199-201)Gaa>Aaa,7,172,0,202
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,AGBL2,79841,11,47732427,47732427,Intron,SNP,C,A,,5,117,0,122
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,OR5R1,219479,11,56184972,56184972,Missense_Mutation,SNP,A,T,c.(736-738)gTg>gAg,14,91,0,190
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,NANOGNB,360030,12,7917937,7917937,Missense_Mutation,SNP,C,T,c.(55-57)gCg>gTg,4,47,1,73
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,PRB4,5545,12,11461454,11461454,Missense_Mutation,SNP,G,T,c.(463-465)Ccc>Acc,5,67,1,141
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,PFKM,5213,12,48519143,48519143,Intron,SNP,A,G,,5,85,0,75
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,KRR1,11103,12,75893702,75893702,Missense_Mutation,SNP,T,C,c.(1033-1035)Agc>Ggc,25,134,0,140
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,SNX6,58533,14,35032317,35032317,3'UTR,SNP,C,T,,14,102,0,132
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,C14orf105,55195,14,57942281,57942281,Intron,SNP,T,C,,4,14,0,28
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,TTLL5,23093,14,76284879,76284879,Intron,SNP,T,G,,7,49,0,26
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,RP11-944C7.1,0,14,90097868,90097868,Missense_Mutation,SNP,A,G,c.(43-45)Tgc>Cgc,3,13,0,37
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,FMN1,342184,15,33202674,33202674,Splice_Site,SNP,C,T,c.e8+1,5,91,0,109
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,NDUFAF1,51103,15,41686439,41686439,Intron,SNP,T,C,,7,79,0,101
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,MESP2,145873,15,90308122,90308122,Start_Codon_SNP,SNP,A,G,c.(1-3)Atg>Gtg,4,66,0,43
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,LRRC36,55282,16,67396111,67396111,Intron,SNP,A,G,,8,181,0,87
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,SCIMP,388325,17,5124314,5124314,Intron,SNP,A,C,,5,50,0,44
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,ALOX12,239,17,6905840,6905840,Intron,SNP,T,C,,5,119,0,94
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,SPOP,8405,17,47696688,47696688,Missense_Mutation,SNP,T,C,c.(259-261)tAc>tGc,9,95,0,135
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,CCDC102B,79839,18,66504032,66504032,Missense_Mutation,SNP,A,T,c.(31-33)gAg>gTg,8,30,0,83
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,CCDC94,55702,19,4249293,4249293,Silent,SNP,C,T,c.(91-93)taC>taT,10,55,0,70
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,DOCK6,57572,19,11354290,11354290,Missense_Mutation,SNP,A,C,c.(1201-1203)Ttg>Gtg,17,112,0,121
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,ZNF93,81931,19,20042829,20042829,Intron,SNP,T,A,,5,32,0,33
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,ZNF99,7652,19,22936984,22936984,IGR,SNP,A,C,,7,29,0,35
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,CTC-301O7.4,0,19,49835552,49835552,lincRNA,SNP,G,A,,4,53,0,87
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,JAG1,182,20,10627666,10627666,Silent,SNP,G,A,c.(1804-1806)caC>caT,9,263,0,338
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,BCAS4,55653,20,49492613,49492613,Missense_Mutation,SNP,A,G,c.(568-570)cAa>cGa,4,52,0,53
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,ZFP64,55734,20,50768965,50768965,Missense_Mutation,SNP,G,A,c.(1765-1767)aCg>aTg,4,37,0,82
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,COL9A3,1299,20,61450610,61450610,Missense_Mutation,SNP,G,A,c.(220-222)Gga>Aga,15,141,0,206
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,PKNOX1,5316,21,44452249,44452249,3'UTR,SNP,T,C,,6,91,0,55
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,ATP6V1E1,529,22,18101798,18101798,Intron,SNP,A,G,,7,117,0,108
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,SLC2A11,66035,22,24225173,24225173,Intron,SNP,T,C,,4,61,0,86
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,EIF4ENIF1,56478,22,31850207,31850207,Missense_Mutation,SNP,C,T,c.(1435-1437)Gga>Aga,5,189,1,237
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,CAPN6,827,X,110489987,110489987,Splice_Site,SNP,C,G,c.(1744-1746)Gtc>Ctc,4,11,0,30
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,NPHP4,261734,1,5939800,5939802,Intron,DEL,AGA,-,,3,1,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,NIPAL3,57185,1,24780692,24780693,Intron,INS,-,T,,12,2,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,SRSF4,6429,1,29475405,29475406,Frame_Shift_Ins,INS,-,A,c.(1000-1002)agcfs,4,25,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,RORC,6097,1,151804006,151804007,Intron,INS,-,GC,,0,4,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,HMCN1,83872,1,185951597,185951598,Intron,INS,-,GG,,3,26,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,PKP1,5317,1,201262936,201262937,Intron,INS,-,T,,4,8,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,RYR2,6262,1,237756786,237756787,Frame_Shift_Del,DEL,CA,-,c.(4285-4287)tcafs,4,27,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,NEB,4703,2,152490167,152490168,Intron,INS,-,T,,3,6,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,FAM126B,285172,2,201852065,201852065,Intron,DEL,C,-,,3,13,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,SERP1,27230,3,150263561,150263561,Frame_Shift_Del,DEL,T,-,c.(88-90)aatfs,9,40,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,PPP2R2B,5521,5,146077530,146077531,Intron,INS,-,C,,3,9,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,SYCP2L,221711,6,10906148,10906148,Intron,DEL,A,-,,4,5,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,8,25,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,ABCF2,10061,7,150916068,150916069,Intron,INS,-,G,,4,21,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,NRG1,3084,8,32607160,32607160,Intron,DEL,T,-,,8,12,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,RRM2B,50484,8,103225246,103225247,Intron,INS,-,A,,1,4,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,POMT1,10585,9,134396642,134396644,Intron,DEL,TGC,-,,3,25,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,WDR11,55717,10,122659739,122659743,Intron,DEL,TAAAG,-,,3,24,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,NRXN2,9379,11,64419696,64419697,Intron,DEL,GA,-,,5,12,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,IGHMBP2,3508,11,68701330,68701331,Frame_Shift_Ins,INS,-,G,c.(1486-1488)tgcfs,31,179,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,TIRAP,114609,11,126163188,126163189,Intron,INS,-,C,,5,22,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,SLC2A3,6515,12,8090911,8090911,5'Flank,DEL,A,-,,4,28,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,GALNT6,11226,12,51748116,51748117,3'UTR,INS,-,A,,5,8,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,ACVRL1,94,12,52314771,52314772,3'UTR,INS,-,T,,3,20,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,SLX4,84464,16,3639629,3639630,Frame_Shift_Ins,INS,-,T,c.(4009-4011)aggfs,22,85,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,C16orf62,57020,16,19638927,19638928,Intron,INS,-,T,,4,7,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,EMR4P,326342,19,6971324,6971324,RNA,DEL,C,-,,3,3,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,CYP4F8,11283,19,15729137,15729137,RNA,DEL,G,-,,16,60,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,CKM,1158,19,45820973,45820973,Intron,DEL,C,-,,2,6,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,H1F0,3005,22,38202083,38202088,In_Frame_Del,DEL,CCAGTG,-,c.(532-537)ccagtgdel,4,79,,
RP-1532_PCProject_0057_T1_v3_Exome_OnPrem,SCUBE1,80274,22,43651437,43651440,Intron,DEL,TGTG,-,,5,21,,
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,CCNL2,81669,1,1335049,1335049,5'Flank,SNP,A,G,,17,178,0,139
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,TCEB3,6924,1,24078164,24078164,Silent,SNP,C,T,c.(1147-1149)Ctg>Ttg,41,166,0,176
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,CSDE1,7812,1,115266570,115266570,Missense_Mutation,SNP,G,A,c.(1807-1809)Cgc>Tgc,7,112,1,103
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,TNR,7143,1,175365732,175365732,Silent,SNP,G,A,c.(1186-1188)taC>taT,16,151,0,115
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,SEC16B,89866,1,177899057,177899057,Missense_Mutation,SNP,G,A,c.(3118-3120)aCg>aTg,7,183,0,102
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,KIF14,9928,1,200549435,200549435,Missense_Mutation,SNP,A,G,c.(3412-3414)Tgg>Cgg,4,94,0,67
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,AC079154.1,0,2,124771671,124771671,RNA,SNP,G,A,,5,105,1,98
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,NEB,4703,2,152354182,152354182,Intron,SNP,G,A,,6,238,0,152
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,DCAF17,80067,2,172303956,172303956,Intron,SNP,C,T,,3,22,0,19
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,DCAF17,80067,2,172303957,172303957,Intron,SNP,A,G,,3,22,0,20
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,TNNC1,7134,3,52485772,52485772,Missense_Mutation,SNP,C,T,c.(304-306)cGc>cAc,84,317,0,287
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,ROBO2,6092,3,77644344,77644344,Intron,SNP,C,T,,24,114,0,68
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,UMPS,7372,3,124465691,124465691,IGR,SNP,C,G,,4,54,0,44
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,CLSTN2,64084,3,140167447,140167447,Missense_Mutation,SNP,G,A,c.(874-876)Gtg>Atg,5,183,0,101
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,UTP3,57050,4,71555362,71555362,Missense_Mutation,SNP,G,A,c.(967-969)cGt>cAt,8,62,0,71
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,TNIP3,79931,4,122059123,122059123,Intron,SNP,G,A,,9,146,0,81
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,CLCN3,1182,4,170608865,170608865,Silent,SNP,G,A,c.(373-375)gcG>gcA,4,122,0,47
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,KIAA0825,285600,5,93807348,93807348,Missense_Mutation,SNP,T,A,c.(1543-1545)aAc>aTc,9,296,1,225
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,GALNT10,55568,5,153795444,153795444,Silent,SNP,G,A,c.(1603-1605)ctG>ctA,4,100,0,93
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,ADAMTS2,9509,5,178554964,178554964,Silent,SNP,G,A,c.(2611-2613)ggC>ggT,9,194,0,197
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,REV3L,5980,6,111629391,111629391,Intron,SNP,A,T,,4,33,0,22
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,VNN3,55350,6,133055771,133055771,Missense_Mutation,SNP,C,A,c.(61-63)Ggt>Tgt,11,93,0,95
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,NUDCD3,23386,7,44507575,44507575,Intron,SNP,A,G,,8,321,1,229
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,JHDM1D,0,7,139796543,139796543,Missense_Mutation,SNP,C,T,c.(2185-2187)aGc>aAc,4,65,0,71
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,SLC10A5,347051,8,82606635,82606635,Silent,SNP,G,A,c.(571-573)tgC>tgT,5,125,0,89
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,EPB41L4B,54566,9,111976060,111976060,Missense_Mutation,SNP,C,T,c.(1672-1674)Gct>Act,5,183,0,100
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,NSMF,26012,9,140351981,140351981,Missense_Mutation,SNP,C,T,c.(505-507)gGa>gAa,27,82,0,131
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,PITRM1,10531,10,3205947,3205947,Missense_Mutation,SNP,T,A,c.(760-762)cAt>cTt,19,72,0,70
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,CUL2,8453,10,35349831,35349831,Missense_Mutation,SNP,C,G,c.(286-288)aaG>aaC,14,78,0,60
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,WDFY4,57705,10,49988127,49988127,Missense_Mutation,SNP,C,T,c.(3538-3540)tCc>tTc,23,102,0,112
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,C10orf105,414152,10,73492069,73492069,Intron,SNP,G,A,,6,273,0,224
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,NKX2-3,159296,10,101294834,101294834,Missense_Mutation,SNP,C,G,c.(451-453)Ccc>Gcc,68,288,0,232
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,RBM20,282996,10,112541119,112541119,Missense_Mutation,SNP,T,A,c.(751-753)cTg>cAg,9,297,0,224
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,MRGPRG,386746,11,3239926,3239926,Missense_Mutation,SNP,G,A,c.(118-120)Cgc>Tgc,5,212,0,147
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,DCDC1,341019,11,31149189,31149189,5'UTR,SNP,G,T,,13,23,0,49
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,BAD,572,11,64038133,64038133,Intron,SNP,G,A,,6,276,0,85
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,CACNA1C,775,12,2711100,2711100,Silent,SNP,C,T,c.(2992-2994)agC>agT,4,104,0,94
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,DERA,51071,12,16064697,16064697,Intron,SNP,G,A,,10,238,0,106
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,KRT6B,3854,12,52841197,52841197,Missense_Mutation,SNP,G,C,c.(1471-1473)tCc>tGc,50,173,0,242
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,DPF3,8110,14,73137925,73137925,Intron,SNP,G,A,,70,309,0,223
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,TMEM121,80757,14,105995264,105995264,Silent,SNP,G,A,c.(91-93)gaG>gaA,10,195,0,143
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,TUBGCP5,114791,15,22864618,22864618,Intron,SNP,T,C,,3,9,0,12
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,FAM227B,196951,15,49903443,49903443,Missense_Mutation,SNP,C,A,c.(73-75)aGc>aTc,11,43,0,42
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,IDH3A,3419,15,78458654,78458654,Intron,SNP,A,G,,15,44,0,46
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,RHOT1,55288,17,30519244,30519244,Missense_Mutation,SNP,C,T,c.(565-567)Ctt>Ttt,4,78,0,58
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,SGSH,6448,17,78188920,78188920,Silent,SNP,G,A,c.(265-267)taC>taT,6,256,0,217
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,MBD3,53615,19,1575265,1575265,IGR,SNP,T,C,,4,16,0,27
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,COMP,1311,19,18899223,18899223,Missense_Mutation,SNP,C,A,c.(862-864)cGt>cTt,28,107,0,130
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,ZNF429,353088,19,21724573,21724573,Silent,SNP,T,C,c.(232-234)gtT>gtC,4,72,1,39
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,ZNF729,100287226,19,22497166,22497166,Missense_Mutation,SNP,C,G,c.(946-948)gCa>gGa,4,57,0,91
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,ZNF850,342892,19,37239677,37239677,Silent,SNP,T,C,c.(2263-2265)aaA>aaG,5,124,1,84
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,SIRPD,128646,20,1532444,1532444,Missense_Mutation,SNP,C,T,c.(313-315)cGt>cAt,8,164,0,141
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,PKNOX1,5316,21,44448826,44448826,Missense_Mutation,SNP,G,A,c.(940-942)aGa>aAa,11,74,0,90
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,DRG1,4733,22,31795669,31795669,De_novo_Start_InFrame,SNP,G,A,,47,213,0,142
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,CELSR1,9620,22,46793691,46793691,Missense_Mutation,SNP,C,T,c.(5581-5583)Gca>Aca,8,48,0,34
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,H2BFWT,158983,X,103267935,103267935,Missense_Mutation,SNP,G,A,c.(298-300)Cgg>Tgg,4,138,0,101
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,PINK1,65018,1,20971953,20971954,Intron,INS,-,C,,3,52,,
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,RORC,6097,1,151804006,151804007,Intron,INS,-,GC,,0,7,,
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,MINA,84864,3,97686042,97686045,Frame_Shift_Del,DEL,CCTT,-,c.(391-396)aaaaggfs,8,42,,
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,CAMK2B,816,7,44323848,44323853,Intron,DEL,AGAGAC,-,,4,66,,
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,ADCY1,107,7,45719566,45719567,Intron,INS,-,C,,3,2,,
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,6,25,,
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,GFAP,2670,17,42990990,42990990,Intron,DEL,T,-,,4,29,,
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,RNF138,51444,18,29703516,29703516,Frame_Shift_Del,DEL,A,-,c.(427-429)gaafs,25,111,,
RP-1532_PCProject_0062_T1_v2_Exome_OnPrem,ZNF334,55713,20,45131521,45131522,Frame_Shift_Ins,INS,-,C,c.(454-459)gcaaagfs,5,36,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,PRAMEF11,440560,1,12884808,12884808,Missense_Mutation,SNP,A,T,c.(1303-1305)Tgc>Agc,8,104,0,156
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,ZNF684,127396,1,41010151,41010151,Intron,SNP,A,G,,5,87,0,51
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,SLC44A5,204962,1,75685021,75685021,Missense_Mutation,SNP,G,A,c.(1186-1188)gCg>gTg,10,129,0,160
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,C1orf180,439927,1,85097311,85097311,Missense_Mutation,SNP,G,A,c.(79-81)aCg>aTg,13,116,0,137
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,MAGI3,260425,1,114161184,114161184,Silent,SNP,A,G,c.(1105-1107)caA>caG,7,152,1,61
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,MFSD6,54842,2,191301737,191301737,Missense_Mutation,SNP,C,T,c.(982-984)Cgc>Tgc,20,182,0,157
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,SP100,6672,2,231369013,231369013,Intron,SNP,T,A,,4,24,0,55
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,NEU4,129807,2,242757445,242757445,Missense_Mutation,SNP,G,A,c.(526-528)Gcc>Acc,8,244,0,161
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,STXBP5L,9515,3,120941968,120941968,Missense_Mutation,SNP,G,A,c.(1075-1077)Gaa>Aaa,4,28,0,75
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,APOD,347,3,195304029,195304029,Intron,SNP,C,G,,7,138,1,56
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,FAM200B,285550,4,15689363,15689363,Missense_Mutation,SNP,G,A,c.(763-765)Gag>Aag,4,30,0,62
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,N4BP2,55728,4,40123773,40123773,Silent,SNP,T,C,c.(4042-4044)Tta>Cta,5,24,0,45
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,FAM175A,84142,4,84401497,84401497,Intron,SNP,T,C,,7,80,0,45
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,PDLIM5,10611,4,95497170,95497170,Missense_Mutation,SNP,G,A,c.(694-696)aGt>aAt,4,43,1,62
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,SLC12A7,10723,5,1081792,1081792,Silent,SNP,G,A,c.(1195-1197)ccC>ccT,17,176,0,109
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,ZNF131,7690,5,43120115,43120115,5'Flank,SNP,A,G,,4,62,0,34
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,ADAMTS19,171019,5,129001277,129001277,Intron,SNP,C,A,,8,80,0,99
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,COL9A1,1297,6,70992737,70992737,Intron,SNP,C,T,,25,290,0,165
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,REV3L,5980,6,111629395,111629395,Intron,SNP,A,G,,4,30,0,40
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,PMS2,5395,7,6048666,6048666,5'UTR,SNP,T,A,,45,405,0,297
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,ZNF273,10793,7,64383765,64383765,Intron,SNP,T,C,,7,230,0,122
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,HIP1,3092,7,75168680,75168680,Missense_Mutation,SNP,G,C,c.(3022-3024)caC>caG,15,179,0,152
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,MAFA,389692,8,144512430,144512430,Silent,SNP,C,T,c.(145-147)tcG>tcA,5,179,0,106
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,SH2D3C,10044,9,130536313,130536313,Silent,SNP,T,C,c.(469-471)ggA>ggG,16,118,0,106
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,CNNM1,26507,10,101090211,101090211,Nonsense_Mutation,SNP,C,A,c.(1066-1068)tCg>tAg,8,94,0,74
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,NLRP10,338322,11,7984973,7984973,Missense_Mutation,SNP,C,A,c.(70-72)Gat>Tat,15,131,0,140
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,KCNA4,3739,11,30032469,30032469,Missense_Mutation,SNP,C,A,c.(1756-1758)tGt>tTt,8,85,0,118
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,TRAF6,7189,11,36511977,36511977,Missense_Mutation,SNP,A,G,c.(979-981)gTa>gCa,11,81,0,100
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,SLC22A25,387601,11,62933587,62933587,Missense_Mutation,SNP,C,T,c.(1213-1215)cGt>cAt,14,183,0,180
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,RPS6KA4,8986,11,64136018,64136018,Missense_Mutation,SNP,C,T,c.(1279-1281)Cgc>Tgc,19,139,0,113
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,TSKU,25987,11,76507492,76507492,Silent,SNP,C,T,c.(832-834)Ctg>Ttg,15,142,0,106
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,SLC6A13,6540,12,333673,333673,Missense_Mutation,SNP,C,T,c.(1066-1068)gGc>gAc,21,258,0,145
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,LPCAT3,10162,12,7083772,7083772,IGR,SNP,T,C,,11,122,0,154
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,SLC11A2,4891,12,51380587,51380587,Intron,SNP,C,T,,8,144,0,215
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,AP4S1,11154,14,31552823,31552823,Intron,SNP,A,G,,6,105,0,77
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,C14orf105,55195,14,57942275,57942275,Intron,SNP,G,A,,4,37,0,36
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,BUB1B,701,15,40458603,40458603,Intron,SNP,C,T,,5,104,0,63
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,ADAM10,102,15,58990510,58990510,Intron,SNP,T,C,,7,156,1,74
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,IDH3A,3419,15,78441745,78441745,5'UTR,SNP,G,T,,17,200,0,130
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,RP11-297M9.1,0,16,9770592,9770592,Missense_Mutation,SNP,T,C,c.(100-102)cAc>cGc,8,63,0,46
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,GRIN2A,2903,16,10274212,10274212,Silent,SNP,G,A,c.(55-57)cgC>cgT,27,212,0,161
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,ZZEF1,23140,17,3980291,3980291,Intron,SNP,A,C,,9,56,0,60
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,SCIMP,388325,17,5124290,5124290,Intron,SNP,C,T,,5,60,0,38
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,WNK4,65266,17,40945986,40945986,Intron,SNP,C,T,,4,49,0,32
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,DCAF7,10238,17,61655948,61655948,Missense_Mutation,SNP,G,T,c.(256-258)Gac>Tac,22,220,1,221
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,ZNF429,353088,19,21720607,21720607,Silent,SNP,G,A,c.(1750-1752)aaG>aaA,6,107,1,150
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,ZNF527,84503,19,37875806,37875806,Intron,SNP,A,G,,6,171,0,97
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,ZNF235,9310,19,44782978,44782978,Intron,SNP,T,C,,5,34,0,13
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,CEACAM18,729767,19,51984898,51984898,Missense_Mutation,SNP,C,T,c.(652-654)Cgc>Tgc,5,49,0,90
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,HRH3,11255,20,60791225,60791225,Missense_Mutation,SNP,T,C,c.(1174-1176)tAc>tGc,30,238,0,147
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,NTSR1,4923,20,61340625,61340625,Silent,SNP,G,A,c.(64-66)gcG>gcA,18,101,0,67
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,CSF2RA,1438,X,1428517,1428517,3'UTR,SNP,C,T,,6,199,0,154
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,ARMCX4,100131755,X,100745456,100745456,Missense_Mutation,SNP,C,G,c.(1879-1881)tCt>tGt,13,53,0,71
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,MROH9,80133,1,170965904,170965904,Intron,DEL,T,-,,0,1,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,EPT1,85465,2,26596154,26596155,Intron,INS,-,TC,,5,4,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,NEB,4703,2,152375444,152375445,Intron,INS,-,T,,4,27,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,ITIH4,3700,3,52847564,52847564,Intron,DEL,A,-,,10,71,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,CMYA5,202333,5,79032245,79032246,Frame_Shift_Del,DEL,AA,-,c.(7657-7659)aagfs,6,32,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,7,44,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,SLC26A5,375611,7,103029627,103029632,Intron,DEL,AGTGTG,-,,4,79,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,Unknown,0,8,2148772,2148773,IGR,INS,-,TCTCTC,,5,234,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,TEX15,56154,8,30700305,30700306,In_Frame_Ins,INS,-,ATC,c.(6226-6231)aaaaac>aaaGATaac,3,18,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,NRG1,3084,8,32607160,32607160,Intron,DEL,T,-,,3,14,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,PRPF4,9128,9,116052727,116052728,Intron,INS,-,AACAC,,7,85,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,ZCRB1,85437,12,42711542,42711543,Intron,DEL,CA,-,,3,14,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,SCN8A,6334,12,52106419,52106420,Intron,INS,-,TCC,,5,37,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,TRAV18,28665,14,22470650,22470650,RNA,DEL,G,-,,8,29,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,SRP54,6729,14,35488131,35488132,Intron,INS,-,TT,,3,14,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,FERMT2,10979,14,53325279,53325279,Intron,DEL,G,-,,4,23,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,CYP19A1,1588,15,51510671,51510671,Intron,DEL,G,-,,1,19,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,ANKRD11,29123,16,89350559,89350560,Frame_Shift_Ins,INS,-,CC,c.(2389-2391)gaafs,1,46,,
RP-1532_PCProject_0085_T1_v3_Exome_OnPrem,ARFGEF2,10564,20,47648790,47648791,Intron,INS,-,A,,6,26,,
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,CROCC,9696,1,17274916,17274916,Missense_Mutation,SNP,C,G,c.(2605-2607)Cgt>Ggt,17,209,0,469
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,EIF4G3,8672,1,21502703,21502703,5'UTR,SNP,C,T,,4,26,0,59
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,YTHDF2,51441,1,29070170,29070170,Missense_Mutation,SNP,G,A,c.(1387-1389)gGc>gAc,5,46,0,144
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,GRIK3,2899,1,37325478,37325478,Silent,SNP,C,G,c.(925-927)cgG>cgC,6,93,0,243
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,PRRX1,5396,1,170695377,170695377,Missense_Mutation,SNP,G,A,c.(433-435)cGa>cAa,7,84,0,308
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,PRG4,10216,1,186276217,186276217,Missense_Mutation,SNP,C,A,c.(1366-1368)Ccc>Acc,4,84,1,360
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,CFHR2,3080,1,196874397,196874397,Intron,SNP,G,A,,4,38,2,143
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,Unknown,0,1,211832028,211832028,IGR,SNP,T,C,,4,57,0,138
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,VHL,7428,3,10183851,10183851,Missense_Mutation,SNP,G,A,c.(319-321)cGc>cAc,5,235,1,516
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,CYP8B1,1582,3,42916264,42916264,Missense_Mutation,SNP,G,A,c.(1045-1047)Cgg>Tgg,4,21,0,129
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,SETD2,29072,3,47147209,47147209,Intron,SNP,G,A,,8,40,0,88
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,CLCN2,1181,3,184075017,184075017,Silent,SNP,G,A,c.(934-936)ctC>ctT,6,151,0,464
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,UGT3A2,167127,5,36049224,36049224,Missense_Mutation,SNP,A,C,c.(610-612)Ttt>Gtt,4,102,1,381
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,CAGE1,285782,6,7373646,7373646,Missense_Mutation,SNP,G,A,c.(1405-1407)gCt>gTt,4,51,0,231
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,ZFAND3,60685,6,37971462,37971462,Intron,SNP,T,A,,3,6,0,29
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,KLC4,89953,6,43038106,43038106,Silent,SNP,C,G,c.(892-894)ctC>ctG,7,35,0,149
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,POM121,9883,7,72413837,72413837,Missense_Mutation,SNP,C,T,c.(3304-3306)tCg>tTg,4,58,0,348
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,ERICH1,157697,8,665936,665936,Missense_Mutation,SNP,T,C,c.(94-96)Acg>Gcg,5,27,0,90
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,DDX21,9188,10,70733292,70733292,Intron,SNP,C,T,,4,64,0,201
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,ERC1,23085,12,1353735,1353735,Intron,SNP,A,T,,5,120,1,160
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,C12orf36,283422,12,13526338,13526338,Missense_Mutation,SNP,T,C,c.(217-219)Aga>Gga,6,40,0,195
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,HIP1R,9026,12,123334437,123334437,Missense_Mutation,SNP,C,T,c.(373-375)Cgc>Tgc,4,42,0,155
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,TPTE2P1,646405,13,25516137,25516137,RNA,SNP,T,C,,4,42,0,51
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,THSD4,79875,15,71507604,71507604,Silent,SNP,G,A,c.(328-330)acG>acA,5,199,0,415
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,DNAH3,55567,16,21156684,21156684,Missense_Mutation,SNP,G,A,c.(265-267)aCg>aTg,4,76,0,303
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,PIEZO1,9780,16,88807949,88807949,Silent,SNP,G,C,c.(400-402)gtC>gtG,7,55,0,176
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,C1QBP,708,17,5342199,5342199,Silent,SNP,G,A,c.(193-195)tgC>tgT,6,220,1,355
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,USP22,23326,17,20921375,20921375,Silent,SNP,G,A,c.(568-570)atC>atT,4,57,0,102
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,ITGB3,3690,17,45360795,45360795,Missense_Mutation,SNP,G,A,c.(241-243)Gag>Aag,6,197,1,510
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,AZI1,0,17,79168686,79168686,Missense_Mutation,SNP,C,A,c.(2110-2112)aaG>aaT,8,76,0,218
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,BOD1L2,284257,18,54814595,54814595,Missense_Mutation,SNP,C,T,c.(52-54)Cgg>Tgg,3,8,0,49
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,HNRNPM,4670,19,8551069,8551069,Missense_Mutation,SNP,C,T,c.(1756-1758)gCc>gTc,28,181,1,571
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,STRN4,29888,19,47231905,47231905,Missense_Mutation,SNP,A,G,c.(1009-1011)Tgc>Cgc,4,26,1,89
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,ISM1,140862,20,13251286,13251286,Missense_Mutation,SNP,C,T,c.(274-276)Cac>Tac,17,125,1,407
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,GNB1L,54584,22,19776389,19776389,Missense_Mutation,SNP,C,T,c.(826-828)cGc>cAc,21,111,0,286
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,GGT5,2687,22,24622159,24622159,Missense_Mutation,SNP,G,T,c.(1114-1116)Cag>Aag,6,73,0,148
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,GGT1,2678,22,25017046,25017046,Intron,SNP,G,A,,4,66,0,152
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,MYH9,4627,22,36722646,36722646,Silent,SNP,G,A,c.(577-579)taC>taT,6,386,0,528
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,DIRAS3,9077,1,68512661,68512662,Frame_Shift_Ins,INS,-,C,c.(319-321)gccfs,6,35,,
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,KDM5B,10765,1,202704536,202704536,Intron,DEL,G,-,,3,11,,
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,DMXL1,1657,5,118469257,118469258,Frame_Shift_Del,DEL,AA,-,c.(1636-1641)ataatgfs,4,31,,
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,TRGJP,6970,7,38313139,38313140,RNA,DEL,GC,-,,3,21,,
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,CNTRL,11064,9,123912482,123912482,Frame_Shift_Del,DEL,T,-,c.(3682-3684)agtfs,3,11,,
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,PAN2,9924,12,56716743,56716744,Intron,INS,-,T,,4,4,,
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,L2HGDH,79944,14,50749142,50749142,Intron,DEL,G,-,,3,15,,
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,SERPINA1,5265,14,94846049,94846050,Intron,INS,-,G,,3,16,,
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,CHD9,80205,16,53338277,53338278,Frame_Shift_Ins,INS,-,G,c.(6358-6363)aaaccafs,5,19,,
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,SRP68,6730,17,74036449,74036449,Intron,DEL,T,-,,3,14,,
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,TMEM259,91304,19,1020936,1020938,In_Frame_Del,DEL,GCC,-,c.(58-60)ggcdel,3,17,,
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,SELV,0,19,40009207,40009208,Intron,INS,-,T,,3,16,,
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,ZNF677,342926,19,53733398,53733399,Intron,INS,-,C,,2,3,,
RP-1532_PCProject_0087_T1_v2_Exome_OnPrem,SCUBE1,80274,22,43651437,43651440,Intron,DEL,TGTG,-,,3,14,,
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,Unknown,0,1,1897944,1897944,IGR,SNP,G,A,,4,73,0,30
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CHD5,26038,1,6194848,6194848,Missense_Mutation,SNP,G,A,c.(2941-2943)tCg>tTg,6,242,0,146
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SLC45A1,50651,1,8390438,8390438,Silent,SNP,G,A,c.(883-885)ccG>ccA,6,253,0,132
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RBP7,116362,1,10067129,10067129,Intron,SNP,A,C,,4,42,0,23
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,AGTRAP,57085,1,11810260,11810260,3'UTR,SNP,G,A,,10,539,0,166
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,UBR4,23352,1,19426978,19426978,Silent,SNP,C,T,c.(13111-13113)ccG>ccA,7,393,0,207
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MUL1,79594,1,20834388,20834388,Intron,SNP,C,T,,5,153,0,55
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NBPF3,84224,1,21806606,21806606,Missense_Mutation,SNP,T,G,c.(1270-1272)tTt>tGt,10,259,0,190
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,HSPG2,3339,1,22156552,22156552,Missense_Mutation,SNP,G,A,c.(11704-11706)Cgg>Tgg,7,375,0,139
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,EPHA8,2046,1,22902955,22902955,Silent,SNP,C,T,c.(403-405)gcC>gcT,5,172,0,114
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,EPHB2,2048,1,23222939,23222939,Missense_Mutation,SNP,C,T,c.(1732-1734)aCg>aTg,5,213,0,133
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,IL22RA1,58985,1,24449911,24449911,Missense_Mutation,SNP,G,A,c.(673-675)Cgg>Tgg,5,219,0,89
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PAQR7,164091,1,26190212,26190212,Missense_Mutation,SNP,G,A,c.(118-120)cCg>cTg,6,359,0,121
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CATSPER4,378807,1,26527920,26527920,Silent,SNP,G,A,c.(1273-1275)acG>acA,5,147,0,102
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RCC1,1104,1,28858863,28858863,Splice_Site,SNP,G,A,c.e7+1,4,46,0,52
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SPOCD1,90853,1,32266082,32266082,Missense_Mutation,SNP,C,T,c.(1561-1563)aGg>aAg,4,81,0,49
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SNIP1,79753,1,38006101,38006101,Missense_Mutation,SNP,C,T,c.(583-585)Gtt>Att,5,181,0,63
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZMPSTE24,10269,1,40751670,40751670,Missense_Mutation,SNP,G,A,c.(1027-1029)gGa>gAa,5,164,0,77
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FOXO6,100132074,1,41847351,41847351,Missense_Mutation,SNP,G,A,c.(478-480)Ggc>Agc,6,575,0,194
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,EDN2,1907,1,41946415,41946415,Intron,SNP,G,C,,5,316,0,98
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FOXJ3,22887,1,42660551,42660551,Intron,SNP,G,C,,4,40,0,21
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FOXJ3,22887,1,42660567,42660567,Nonsense_Mutation,SNP,G,A,c.(928-930)Caa>Taa,7,64,0,33
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,B4GALT2,8704,1,44450727,44450727,Splice_Site,SNP,G,A,c.(739-741)cGg>cAg,4,84,0,62
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MKNK1,8569,1,47037149,47037149,Missense_Mutation,SNP,G,A,c.(556-558)Cca>Tca,5,79,0,41
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MROH7,374977,1,55124798,55124798,Intron,SNP,A,G,,8,128,0,47
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CTH,1491,1,70900861,70900861,Splice_Site,SNP,G,A,c.e10+1,7,402,0,158
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KCNC4,3749,1,110768685,110768685,Silent,SNP,C,T,c.(1702-1704)ccC>ccT,7,233,0,76
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PTPN22,26191,1,114406895,114406895,Intron,SNP,T,C,,5,185,0,65
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MAB21L3,126868,1,116675933,116675933,Missense_Mutation,SNP,G,A,c.(1036-1038)Gtg>Atg,7,406,0,189
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CERS2,29956,1,150940335,150940335,Silent,SNP,G,A,c.(427-429)taC>taT,6,282,0,111
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SLC27A3,11000,1,153745709,153745709,5'Flank,SNP,G,A,,6,276,0,102
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DENND4B,9909,1,153908604,153908604,Missense_Mutation,SNP,G,A,c.(2500-2502)Cgg>Tgg,6,266,0,112
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DAP3,7818,1,155701824,155701824,Splice_Site,SNP,G,A,c.(991-993)aaG>aaA,7,236,0,104
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GPATCH4,54865,1,156564918,156564918,3'UTR,SNP,C,T,,6,304,0,115
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SPTA1,6708,1,158623105,158623105,Missense_Mutation,SNP,C,A,c.(3145-3147)gaG>gaT,103,241,0,175
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,AIM2,9447,1,159036061,159036061,Missense_Mutation,SNP,C,T,c.(454-456)cGc>cAc,20,65,0,70
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ALDH9A1,223,1,165652279,165652279,Silent,SNP,C,T,c.(394-396)ttG>ttA,5,217,0,97
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FAM78B,149297,1,166135307,166135307,Missense_Mutation,SNP,A,G,c.(178-180)aTc>aCc,5,186,0,95
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MYOC,4653,1,171605302,171605302,Silent,SNP,G,A,c.(1276-1278)gtC>gtT,7,341,0,254
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TNFSF4,7292,1,173176208,173176208,Silent,SNP,C,T,c.(106-108)ctG>ctA,48,131,0,62
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF648,127665,1,182027001,182027001,Missense_Mutation,SNP,C,T,c.(145-147)Gct>Act,42,125,0,128
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SMG7,9887,1,183520292,183520292,Silent,SNP,G,A,c.(3265-3267)gaG>gaA,4,71,0,49
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RGL1,23179,1,183885812,183885812,Missense_Mutation,SNP,G,A,c.(1981-1983)Ggc>Agc,6,151,0,58
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,HMCN1,83872,1,186023008,186023008,Missense_Mutation,SNP,G,A,c.(6751-6753)gGc>gAc,6,251,0,121
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PTGS2,5743,1,186645077,186645077,Missense_Mutation,SNP,C,T,c.(1210-1212)Gga>Aga,4,107,0,43
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PKP1,5317,1,201282500,201282500,Silent,SNP,G,A,c.(511-513)acG>acA,8,643,0,255
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NAV1,89796,1,201763342,201763342,Intron,SNP,C,T,,5,238,0,93
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PTPN7,5778,1,202122849,202122849,Intron,SNP,G,A,,5,63,0,32
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ATP2B4,493,1,203698843,203698843,Intron,SNP,G,A,,6,246,0,130
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PPP1R15B,84919,1,204379351,204379351,Missense_Mutation,SNP,C,T,c.(1189-1191)Gga>Aga,5,104,0,49
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PIK3C2B,5287,1,204403007,204403007,Missense_Mutation,SNP,G,A,c.(3757-3759)Cgc>Tgc,7,348,0,119
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,IKBKE,9641,1,206650167,206650167,Silent,SNP,G,A,c.(685-687)cgG>cgA,5,116,0,51
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,LAMB3,3914,1,209801380,209801380,Splice_Site,SNP,G,A,c.(1288-1290)Cgc>Tgc,8,425,0,176
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,USH2A,7399,1,216369983,216369983,Missense_Mutation,SNP,T,C,c.(4162-4164)aAt>aGt,79,194,0,150
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ADCK3,56997,1,227149224,227149224,Silent,SNP,G,A,c.(136-138)acG>acA,5,114,0,54
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF678,339500,1,227843257,227843257,Missense_Mutation,SNP,A,G,c.(1306-1308)Aaa>Gaa,7,227,1,140
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,URB2,9816,1,229787014,229787014,Silent,SNP,C,T,c.(4180-4182)aaC>aaT,6,151,0,41
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DISC1,27185,1,231990692,231990692,Missense_Mutation,SNP,C,G,c.(2188-2190)aCc>aGc,5,144,1,46
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,B3GALNT2,148789,1,235617597,235617597,Silent,SNP,G,A,c.(1180-1182)acC>acT,4,91,0,61
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NID1,4811,1,236189373,236189373,Missense_Mutation,SNP,G,A,c.(1807-1809)Cgc>Tgc,7,479,1,187
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MTR,4548,1,236966835,236966835,Missense_Mutation,SNP,G,A,c.(142-144)Gaa>Aaa,9,528,0,246
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RYR2,6262,1,237729917,237729917,Missense_Mutation,SNP,C,T,c.(3265-3267)Cgt>Tgt,5,198,0,82
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,OPN3,23596,1,241767856,241767856,Silent,SNP,G,A,c.(397-399)acC>acT,4,62,0,54
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KIF26B,55083,1,245530501,245530501,Silent,SNP,G,A,c.(829-831)gcG>gcA,6,226,0,121
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KIF26B,55083,1,245861399,245861399,Intron,SNP,C,T,,4,62,0,52
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,OR2M2,391194,1,248344224,248344224,Nonsense_Mutation,SNP,G,T,c.(937-939)Gag>Tag,31,116,0,111
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SNTG2,54221,2,1204880,1204880,Missense_Mutation,SNP,G,A,c.(682-684)cGc>cAc,62,186,0,124
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PXDN,7837,2,1652167,1652167,Missense_Mutation,SNP,G,A,c.(3385-3387)Cgt>Tgt,7,443,0,138
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ATAD2B,54454,2,24149539,24149539,Silent,SNP,G,A,c.(100-102)ggC>ggT,7,463,0,150
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ITSN2,50618,2,24523023,24523023,Missense_Mutation,SNP,G,A,c.(1099-1101)Cgg>Tgg,5,117,0,74
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KIF3C,3797,2,26203881,26203881,Silent,SNP,G,A,c.(904-906)aaC>aaT,7,322,0,178
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KCNK3,3777,2,26951256,26951256,Silent,SNP,G,A,c.(1003-1005)acG>acA,5,90,0,30
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GTF3C2,2976,2,27560133,27560133,Missense_Mutation,SNP,C,T,c.(1105-1107)Ggc>Agc,4,76,0,43
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PLB1,151056,2,28851960,28851960,Splice_Site,SNP,G,C,c.e53-1,35,96,0,35
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CYP1B1,1545,2,38301571,38301571,Missense_Mutation,SNP,G,A,c.(961-963)Ccg>Tcg,5,131,0,91
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SIX2,10736,2,45233635,45233635,Intron,SNP,G,A,,6,446,0,197
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RAB1A,5861,2,65325128,65325128,Missense_Mutation,SNP,C,T,c.(169-171)Ggg>Agg,5,164,0,79
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,C2orf42,54980,2,70392321,70392321,Missense_Mutation,SNP,A,G,c.(1255-1257)tTt>tCt,4,53,0,37
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CTNNA2,1496,2,80875006,80875006,3'UTR,SNP,G,A,,4,15,0,25
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KCMF1,56888,2,85276657,85276657,Missense_Mutation,SNP,G,A,c.(769-771)cGt>cAt,9,702,0,216
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ATOH8,84913,2,85991252,85991252,Missense_Mutation,SNP,G,A,c.(907-909)Gtg>Atg,6,325,0,92
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SEMA4C,54910,2,97526794,97526794,Missense_Mutation,SNP,G,A,c.(2071-2073)Cgg>Tgg,5,199,0,125
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TMEM131,23505,2,98392306,98392306,Splice_Site,SNP,C,T,c.(4318-4320)gaG>gaA,6,73,0,55
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PDCL3,79031,2,101185489,101185489,Intron,SNP,C,T,,5,137,0,39
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RFX8,731220,2,102083255,102083255,Missense_Mutation,SNP,G,A,c.(181-183)cCg>cTg,6,327,0,124
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NCK2,8440,2,106497935,106497935,Silent,SNP,G,A,c.(376-378)cgG>cgA,7,420,0,132
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MAP3K2,10746,2,128065271,128065271,Silent,SNP,G,A,c.(1744-1746)Ctg>Ttg,6,407,0,172
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MYO7B,4648,2,128385576,128385576,Intron,SNP,C,T,,5,196,0,153
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,HS6ST1,9394,2,129025828,129025828,Missense_Mutation,SNP,G,A,c.(1144-1146)Cgg>Tgg,5,66,0,57
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ARHGEF4,50649,2,131769447,131769447,Intron,SNP,G,A,,6,283,0,155
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,LCT,3938,2,136566399,136566399,Missense_Mutation,SNP,C,T,c.(3517-3519)gGg>gAg,4,39,0,35
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,LRP1B,53353,2,140992354,140992354,Splice_Site,SNP,C,A,c.e90+1,39,81,0,70
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,LRP1B,53353,2,141771172,141771172,Missense_Mutation,SNP,C,T,c.(2332-2334)aGa>aAa,5,108,0,70
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KIF5C,3800,2,149633313,149633313,Splice_Site,SNP,G,A,c.e1+1,5,156,1,72
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TTC21B,79809,2,166764262,166764262,Missense_Mutation,SNP,G,A,c.(2494-2496)Cgt>Tgt,7,388,0,129
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KIAA1715,80856,2,176805707,176805707,Intron,SNP,A,G,,5,196,0,72
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,COL3A1,1281,2,189859321,189859321,Splice_Site,SNP,G,A,c.e19+1,8,416,0,187
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GLS,2744,2,191766662,191766662,Intron,SNP,C,T,,6,213,0,77
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,AOX1,316,2,201521639,201521639,Silent,SNP,G,A,c.(3148-3150)ggG>ggA,4,68,0,27
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ALS2,57679,2,202580414,202580414,Missense_Mutation,SNP,G,A,c.(3985-3987)Cgg>Tgg,5,216,0,111
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ACADL,33,2,211089992,211089992,5'UTR,SNP,G,A,,6,311,0,138
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,IGFBP2,3485,2,217525412,217525412,Missense_Mutation,SNP,G,A,c.(574-576)cGg>cAg,7,345,0,129
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,WNT6,7475,2,219738264,219738264,Silent,SNP,C,T,c.(793-795)gaC>gaT,8,537,1,268
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ALPP,250,2,233246065,233246065,Missense_Mutation,SNP,G,A,c.(1297-1299)Gag>Aag,7,443,0,274
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ANO7,50636,2,242152024,242152024,Missense_Mutation,SNP,G,A,c.(1873-1875)Gga>Aga,4,85,0,68
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,IL17RE,132014,3,9944702,9944702,Missense_Mutation,SNP,G,A,c.(85-87)cGc>cAc,6,185,0,90
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CAND2,23066,3,12854502,12854502,Silent,SNP,C,T,c.(769-771)gaC>gaT,7,204,0,89
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CCDC174,51244,3,14709635,14709635,Missense_Mutation,SNP,G,A,c.(898-900)cGa>cAa,7,208,0,81
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ANKRD28,23243,3,15807735,15807735,Intron,SNP,C,T,,6,109,0,43
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SETD2,29072,3,47147209,47147209,Intron,SNP,G,A,,5,103,0,51
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF589,51385,3,48309998,48309998,Missense_Mutation,SNP,G,A,c.(817-819)Gaa>Aaa,6,259,0,139
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RBM6,10180,3,50106118,50106118,Intron,SNP,C,T,,5,119,0,69
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,HEMK1,51409,3,50615290,50615290,Silent,SNP,C,T,c.(646-648)caC>caT,5,189,0,98
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NT5DC2,64943,3,52568530,52568530,Intron,SNP,G,A,,8,759,0,225
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,APPL1,26060,3,57294004,57294004,Missense_Mutation,SNP,C,T,c.(1615-1617)Cgt>Tgt,6,272,0,119
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MITF,4286,3,70008549,70008549,Missense_Mutation,SNP,G,A,c.(1156-1158)cGg>cAg,7,375,0,135
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ARHGAP31,57514,3,119134373,119134373,Silent,SNP,G,A,c.(3595-3597)gcG>gcA,5,274,0,150
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GOLGB1,2804,3,121417744,121417744,Missense_Mutation,SNP,G,C,c.(1609-1611)agC>agG,12,43,0,30
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MYLK,4638,3,123366251,123366251,Missense_Mutation,SNP,C,T,c.(4438-4440)cGa>cAa,6,297,0,152
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MYLK,4638,3,123419348,123419348,Silent,SNP,C,T,c.(2965-2967)aaG>aaA,4,20,0,35
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KALRN,8997,3,124017729,124017729,Missense_Mutation,SNP,C,T,c.(1054-1056)aCg>aTg,5,277,0,156
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,UROC1,131669,3,126224559,126224559,Silent,SNP,G,A,c.(796-798)atC>atT,8,590,0,234
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MCM2,4171,3,127335961,127335961,Splice_Site,SNP,G,A,c.(1771-1773)aaG>aaA,4,53,0,39
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PCCB,5096,3,135971171,135971171,Intron,SNP,T,C,,8,251,0,111
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SPSB4,92369,3,140785139,140785139,Missense_Mutation,SNP,G,A,c.(193-195)Gtc>Atc,5,194,0,87
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,AADAC,13,3,151545558,151545558,Silent,SNP,C,T,c.(796-798)tcC>tcT,5,107,0,58
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GNB4,59345,3,179131374,179131374,Silent,SNP,C,T,c.(523-525)caG>caA,6,185,0,170
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF595,152687,4,86588,86588,3'UTR,SNP,T,C,,5,156,0,122
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF595,152687,4,87249,87249,3'UTR,SNP,T,C,,5,114,0,91
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TMEM175,84286,4,951673,951673,Missense_Mutation,SNP,G,A,c.(904-906)Gcc>Acc,5,176,0,96
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,WHSC1,7468,4,1902556,1902556,Nonsense_Mutation,SNP,G,T,c.(175-177)Gag>Tag,52,124,0,68
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NAT8L,339983,4,2065638,2065638,Silent,SNP,G,A,c.(691-693)aaG>aaA,4,98,0,82
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PSAPL1,768239,4,7436412,7436412,Silent,SNP,G,A,c.(193-195)gaC>gaT,7,137,0,91
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DTHD1,401124,4,36307866,36307866,Missense_Mutation,SNP,A,C,c.(1321-1323)aAa>aCa,36,114,0,68
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PGM2,55276,4,37848641,37848641,Missense_Mutation,SNP,G,A,c.(1096-1098)cGc>cAc,5,175,0,60
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RP11-333E13.4,0,4,40045569,40045569,RNA,SNP,G,A,,6,244,0,153
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RBM47,54502,4,40439970,40439970,Missense_Mutation,SNP,G,A,c.(940-942)aCg>aTg,6,240,0,106
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NSUN7,79730,4,40810637,40810637,Missense_Mutation,SNP,C,T,c.(1837-1839)cCt>cTt,5,149,0,90
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CNGA1,1259,4,47973002,47973002,5'UTR,SNP,A,G,,6,122,0,54
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FRYL,285527,4,48597996,48597996,Nonsense_Mutation,SNP,G,A,c.(1057-1059)Cga>Tga,5,236,0,74
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NPFFR2,10886,4,73012885,73012885,Missense_Mutation,SNP,C,T,c.(925-927)Cgg>Tgg,25,65,0,79
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ADAMTS3,9508,4,73185665,73185665,Missense_Mutation,SNP,G,A,c.(1117-1119)aCc>aTc,7,225,0,103
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PRDM8,56978,4,81124153,81124153,Missense_Mutation,SNP,C,T,c.(1537-1539)Ccg>Tcg,7,419,0,198
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RP11-766F14.2,0,4,100573244,100573244,Silent,SNP,G,A,c.(2560-2562)agC>agT,48,144,0,99
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ENPEP,2028,4,111397732,111397732,Silent,SNP,G,A,c.(160-162)gcG>gcA,16,43,0,52
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,METTL14,57721,4,119631366,119631366,Missense_Mutation,SNP,G,A,c.(1279-1281)cGa>cAa,9,217,1,118
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PLEKHG4B,153478,5,157049,157049,Intron,SNP,G,A,,7,406,0,165
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NKD2,85409,5,1035025,1035025,Intron,SNP,G,A,,4,66,0,22
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CCT5,22948,5,10258258,10258258,Missense_Mutation,SNP,C,T,c.(565-567)gCt>gTt,6,239,0,140
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ROPN1L,83853,5,10448434,10448434,Missense_Mutation,SNP,C,T,c.(193-195)aCg>aTg,11,214,0,121
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RPL37,6167,5,40832823,40832823,Intron,SNP,C,T,,4,22,0,16
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CCL28,56477,5,43384147,43384147,Intron,SNP,A,G,,4,58,0,10
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TTC37,9652,5,94842659,94842659,Missense_Mutation,SNP,C,T,c.(3070-3072)aGa>aAa,7,412,0,154
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RAPGEF6,51735,5,130764825,130764825,Missense_Mutation,SNP,G,A,c.(4549-4551)gCg>gTg,6,187,0,128
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GDF9,2661,5,132197524,132197524,Silent,SNP,C,T,c.(1120-1122)ccG>ccA,7,373,0,166
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PCDHA13,56136,5,140263545,140263545,Silent,SNP,G,A,c.(1690-1692)gcG>gcA,7,422,1,206
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PCDHB14,56122,5,140605384,140605384,Silent,SNP,G,A,c.(2305-2307)ccG>ccA,6,263,0,141
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PCDHGA9,56107,5,140783171,140783171,Missense_Mutation,SNP,G,A,c.(652-654)Ggc>Agc,7,408,0,159
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PCDHGB7,56099,5,140799342,140799342,Missense_Mutation,SNP,G,A,c.(1915-1917)cGc>cAc,9,223,0,105
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DIAPH1,1729,5,140953188,140953188,Silent,SNP,G,A,c.(2227-2229)ccC>ccT,5,87,0,73
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CSF1R,1436,5,149457787,149457787,Missense_Mutation,SNP,G,A,c.(616-618)aCa>aTa,6,244,0,96
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MFAP3,4238,5,153432690,153432690,Missense_Mutation,SNP,G,T,c.(505-507)cGg>cTg,15,105,0,66
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GALNT10,55568,5,153789256,153789256,Silent,SNP,G,A,c.(1318-1320)acG>acA,8,466,0,167
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GABRG2,2566,5,161576273,161576273,Missense_Mutation,SNP,G,A,c.(1081-1083)aGc>aAc,9,428,1,249
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RARS,5917,5,167944872,167944872,Nonsense_Mutation,SNP,C,T,c.(1678-1680)Cga>Tga,5,191,0,100
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FOXI1,2299,5,169533535,169533535,Splice_Site,SNP,G,A,c.(574-576)Ggc>Agc,7,328,0,221
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SH3PXD2B,285590,5,171766017,171766017,Nonsense_Mutation,SNP,G,A,c.(2092-2094)Cga>Tga,4,73,0,68
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PRPF4B,8899,6,4050085,4050085,Missense_Mutation,SNP,G,A,c.(2146-2148)Gta>Ata,8,165,0,45
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ATXN1,6310,6,16327635,16327635,Missense_Mutation,SNP,G,A,c.(907-909)Cgg>Tgg,6,232,0,123
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,BTN2A2,10385,6,26392815,26392815,Missense_Mutation,SNP,G,A,c.(1192-1194)Gtc>Atc,5,211,0,135
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZSCAN16,80345,6,28097508,28097508,Missense_Mutation,SNP,G,C,c.(826-828)cGc>cCc,4,109,0,74
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NKAPL,222698,6,28228213,28228213,Missense_Mutation,SNP,G,A,c.(1063-1065)cGt>cAt,5,181,0,69
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RGL2,5863,6,33260035,33260035,Silent,SNP,G,A,c.(2176-2178)caC>caT,7,362,0,149
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MTCH1,23787,6,36953809,36953809,Silent,SNP,G,A,c.(139-141)caC>caT,6,215,0,98
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DAAM2,23500,6,39872301,39872301,3'UTR,SNP,C,T,,7,580,0,313
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PPP2R5D,5528,6,42974348,42974348,Nonsense_Mutation,SNP,C,T,c.(253-255)Cga>Tga,5,254,0,87
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,YIPF3,25844,6,43483010,43483010,Intron,SNP,G,A,,6,310,1,92
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GTPBP2,54676,6,43593198,43593198,Missense_Mutation,SNP,G,A,c.(607-609)Cgg>Tgg,7,599,0,194
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,BMP5,653,6,55739337,55739337,Silent,SNP,G,C,c.(325-327)acC>acG,18,178,0,135
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,COL9A1,1297,6,70970388,70970388,Missense_Mutation,SNP,G,A,c.(1420-1422)aCc>aTc,8,419,0,203
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,COL12A1,1303,6,75829137,75829137,Missense_Mutation,SNP,G,A,c.(7138-7140)aCg>aTg,4,86,0,33
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF292,23036,6,87969274,87969274,Missense_Mutation,SNP,C,A,c.(5926-5928)aCt>aAt,5,218,0,98
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SIM1,6492,6,100895171,100895171,Missense_Mutation,SNP,C,T,c.(970-972)tGt>tAt,5,179,0,66
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SAMD3,154075,6,130505329,130505329,Silent,SNP,G,A,c.(571-573)taC>taT,4,57,0,42
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,EYA4,2070,6,133802716,133802716,Silent,SNP,G,A,c.(1084-1086)ccG>ccA,86,285,1,217
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PDE7B,27115,6,136477015,136477015,Intron,SNP,G,A,,6,170,0,96
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TNFAIP3,7128,6,138200387,138200387,Missense_Mutation,SNP,C,T,c.(1804-1806)aCg>aTg,7,455,0,139
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KIAA1244,57221,6,138656088,138656088,Silent,SNP,G,A,c.(6103-6105)caG>caA,6,269,0,96
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ARID1B,57492,6,157527547,157527547,Missense_Mutation,SNP,G,A,c.(5233-5235)Gat>Aat,6,322,0,157
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FNDC1,84624,6,159653361,159653361,Missense_Mutation,SNP,C,T,c.(1816-1818)aCg>aTg,20,89,0,62
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FNDC1,84624,6,159653836,159653836,Silent,SNP,C,T,c.(2290-2292)tcC>tcT,5,205,1,98
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,HEATR2,54919,7,780472,780472,Missense_Mutation,SNP,C,T,c.(796-798)gCc>gTc,5,186,0,64
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GPR146,115330,7,1097221,1097221,Silent,SNP,C,T,c.(70-72)Ctg>Ttg,6,177,0,92
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SNX8,29886,7,2309230,2309230,Silent,SNP,G,A,c.(583-585)gaC>gaT,6,332,1,115
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GNA12,2768,7,2771017,2771017,Missense_Mutation,SNP,G,A,c.(943-945)cCg>cTg,5,98,0,36
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SDK1,221935,7,4247800,4247800,Missense_Mutation,SNP,G,A,c.(5284-5286)Gtg>Atg,5,299,1,166
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RADIL,55698,7,4839097,4839097,Missense_Mutation,SNP,C,T,c.(3139-3141)cGt>cAt,6,180,0,75
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RADIL,55698,7,4917663,4917663,Silent,SNP,G,A,c.(106-108)taC>taT,6,274,0,161
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MEOX2,4223,7,15652065,15652065,Missense_Mutation,SNP,C,T,c.(862-864)Gca>Aca,8,303,0,180
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KIAA0895,23366,7,36370597,36370597,Silent,SNP,G,A,c.(1396-1398)ctC>ctT,5,86,0,35
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,VPS41,27072,7,38908863,38908863,Intron,SNP,C,T,,5,52,0,43
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CDK13,8621,7,40118309,40118309,Intron,SNP,C,T,,6,88,0,48
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,INHBA,3624,7,41739803,41739803,Missense_Mutation,SNP,G,T,c.(169-171)gCc>gAc,5,88,0,57
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,HECW1,23072,7,43562706,43562706,Intron,SNP,A,G,,4,52,0,38
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF138,7697,7,64275369,64275369,5'UTR,SNP,G,A,,5,277,0,147
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF92,168374,7,64863773,64863773,Missense_Mutation,SNP,T,G,c.(745-747)aTa>aGa,6,351,0,203
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RABGEF1,27342,7,66261815,66261815,3'UTR,SNP,C,T,,6,87,0,29
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CLIP2,7461,7,73814798,73814798,Silent,SNP,G,A,c.(2977-2979)acG>acA,7,263,0,105
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KIAA1324L,222223,7,86556047,86556047,Intron,SNP,C,T,,5,31,0,25
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PEX1,5189,7,92116799,92116799,Missense_Mutation,SNP,C,T,c.(3823-3825)cGa>cAa,5,197,0,73
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,COL1A2,1278,7,94049733,94049733,Missense_Mutation,SNP,C,T,c.(2164-2166)Ccc>Tcc,7,527,1,358
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TRRAP,8295,7,98567841,98567841,Missense_Mutation,SNP,G,A,c.(7597-7599)cGt>cAt,6,339,1,126
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ARPC1B,10095,7,98991719,98991719,Missense_Mutation,SNP,G,A,c.(1057-1059)Ggc>Agc,7,466,0,153
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,AZGP1P1,646282,7,99580972,99580972,RNA,SNP,G,A,,5,203,0,123
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PVRIG,79037,7,99818655,99818655,Silent,SNP,G,A,c.(760-762)ccG>ccA,4,54,0,34
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MOSPD3,64598,7,100211117,100211117,Missense_Mutation,SNP,C,T,c.(298-300)gCa>gTa,8,173,0,91
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,EPHB4,2050,7,100421431,100421431,Silent,SNP,G,A,c.(244-246)ggC>ggT,8,485,1,206
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DPY19L2P2,349152,7,102920519,102920519,RNA,SNP,G,A,,4,114,0,48
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,LAMB1,3912,7,107599839,107599839,Missense_Mutation,SNP,G,A,c.(2545-2547)Cgg>Tgg,7,521,0,213
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,LMOD2,442721,7,123301918,123301918,Missense_Mutation,SNP,C,T,c.(277-279)gCa>gTa,4,35,0,29
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TMEM140,55281,7,134849470,134849470,Missense_Mutation,SNP,C,T,c.(277-279)Ctc>Ttc,6,197,0,113
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MGAM,8972,7,141720786,141720786,Missense_Mutation,SNP,G,A,c.(460-462)cGg>cAg,5,282,0,135
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,EPHA1,2041,7,143096877,143096877,Silent,SNP,G,A,c.(700-702)caC>caT,5,171,0,103
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RBM33,155435,7,155534604,155534604,Missense_Mutation,SNP,C,T,c.(2140-2142)gCg>gTg,8,497,0,151
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TDRP,157695,8,442734,442734,Nonsense_Mutation,SNP,G,A,c.(223-225)Cga>Tga,4,40,0,45
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GATA4,2626,8,11618962,11618962,IGR,SNP,C,T,,4,41,0,22
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,LONRF1,91694,8,12612379,12612379,Missense_Mutation,SNP,G,A,c.(550-552)gCc>gTc,5,192,0,100
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,REEP4,80346,8,21997750,21997750,Missense_Mutation,SNP,C,T,c.(115-117)atG>atA,42,150,0,74
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ADRA1A,148,8,26606185,26606185,Missense_Mutation,SNP,T,G,c.(1348-1350)agA>agC,4,49,0,15
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MAK16,84549,8,33354757,33354757,Missense_Mutation,SNP,G,A,c.(646-648)gGg>gAg,5,145,0,56
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ADAM9,8754,8,38913265,38913265,Missense_Mutation,SNP,C,T,c.(1564-1566)gCt>gTt,5,242,0,88
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ANK1,286,8,41551479,41551479,Missense_Mutation,SNP,C,T,c.(3469-3471)Gac>Aac,5,182,0,111
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,THAP1,55145,8,42693436,42693436,Missense_Mutation,SNP,G,T,c.(310-312)cCt>cAt,38,68,0,59
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SPIDR,23514,8,48511642,48511642,Silent,SNP,G,A,c.(1426-1428)tcG>tcA,8,691,0,229
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ST18,9705,8,53079447,53079447,Missense_Mutation,SNP,G,A,c.(1168-1170)tCg>tTg,13,239,0,76
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ESRP1,54845,8,95651236,95651236,5'Flank,SNP,C,T,,5,117,0,70
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RRM2B,50484,8,103250941,103250941,Intron,SNP,G,A,,8,754,0,198
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,COL14A1,7373,8,121326217,121326217,Missense_Mutation,SNP,G,A,c.(4501-4503)gGt>gAt,5,144,0,88
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SQLE,6713,8,126015511,126015511,Missense_Mutation,SNP,G,A,c.(385-387)Gtg>Atg,7,314,0,136
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TG,7038,8,133894181,133894181,Missense_Mutation,SNP,G,A,c.(712-714)Gct>Act,6,199,0,72
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GSDMD,79792,8,144642536,144642536,Intron,SNP,G,A,,3,15,0,15
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MROH6,642475,8,144652150,144652150,Missense_Mutation,SNP,G,A,c.(1129-1131)Cgt>Tgt,8,449,0,119
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FAM83H,286077,8,144808696,144808696,Missense_Mutation,SNP,G,A,c.(2935-2937)Cgg>Tgg,7,315,1,197
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,OPLAH,26873,8,145109572,145109572,Missense_Mutation,SNP,C,T,c.(2578-2580)Ggg>Agg,5,198,0,103
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ERMP1,79956,9,5798806,5798806,Splice_Site,SNP,C,T,c.(2269-2271)aGg>aAg,5,96,0,63
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FREM1,158326,9,14776015,14776015,Silent,SNP,G,A,c.(4627-4629)acC>acT,5,134,0,105
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FOCAD,54914,9,20948849,20948849,Splice_Site,SNP,G,T,c.e34-1,105,200,0,130
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,IFNA14,3448,9,21239382,21239382,Silent,SNP,A,G,c.(553-555)Tta>Cta,18,261,0,139
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ARID3C,138715,9,34622027,34622027,Silent,SNP,C,T,c.(1126-1128)gtG>gtA,5,176,0,79
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FRMPD1,22844,9,37745952,37745952,Missense_Mutation,SNP,C,T,c.(3922-3924)gCc>gTc,4,108,0,77
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FXN,2395,9,71668149,71668149,Silent,SNP,G,A,c.(355-357)acG>acA,7,444,0,226
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,IDNK,414328,9,86241607,86241607,Intron,SNP,T,C,,6,97,0,28
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,C9orf170,401535,9,89763793,89763793,Missense_Mutation,SNP,G,A,c.(148-150)Ggt>Agt,7,409,0,136
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DIRAS2,54769,9,93375807,93375807,Silent,SNP,G,A,c.(301-303)taC>taT,8,810,1,266
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ROR2,4920,9,94486778,94486778,Silent,SNP,G,A,c.(1996-1998)taC>taT,9,477,0,304
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NINJ1,4814,9,95887239,95887239,Missense_Mutation,SNP,G,A,c.(409-411)aCg>aTg,5,152,0,49
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CCDC180,100499483,9,100125846,100125846,Intron,SNP,C,A,,4,34,0,8
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ANP32B,10541,9,100773645,100773645,Missense_Mutation,SNP,G,A,c.(610-612)Gag>Aag,7,315,0,66
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,INVS,27130,9,103002383,103002383,Silent,SNP,C,T,c.(655-657)taC>taT,6,354,0,128
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SVEP1,79987,9,113141657,113141657,Nonsense_Mutation,SNP,C,A,c.(10378-10380)Gga>Tga,4,100,1,66
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,WDR31,114987,9,116094186,116094186,Splice_Site,SNP,C,T,c.e3+1,5,89,0,53
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,AMBP,259,9,116838991,116838991,Silent,SNP,G,A,c.(145-147)atC>atT,6,225,0,75
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,COL27A1,85301,9,116930282,116930282,Silent,SNP,C,T,c.(445-447)ctC>ctT,6,363,0,117
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DFNB31,25861,9,117186763,117186763,Nonsense_Mutation,SNP,G,A,c.(1267-1269)Cga>Tga,18,347,0,127
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TNC,3371,9,117849482,117849482,Silent,SNP,G,A,c.(526-528)tgC>tgT,13,306,0,119
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,LMX1B,4010,9,129458189,129458189,Missense_Mutation,SNP,G,A,c.(958-960)Gtg>Atg,5,205,1,83
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GLE1,2733,9,131271192,131271192,Missense_Mutation,SNP,C,T,c.(136-138)tCt>tTt,6,326,0,160
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TBC1D13,54662,9,131553731,131553731,Intron,SNP,G,A,,6,208,0,103
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SH3GLB2,56904,9,131777097,131777097,Missense_Mutation,SNP,G,A,c.(421-423)Ctc>Ttc,5,217,0,80
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,HMCN2,256158,9,133273012,133273012,3'UTR,SNP,G,A,,6,227,0,80
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,LAMC3,10319,9,133914326,133914326,Missense_Mutation,SNP,G,A,c.(1051-1053)cGc>cAc,7,554,0,231
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RAPGEF1,2889,9,134471690,134471690,Missense_Mutation,SNP,C,T,c.(2125-2127)aGg>aAg,5,189,0,90
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RAPGEF1,2889,9,134477485,134477485,Missense_Mutation,SNP,C,T,c.(1906-1908)Ggc>Agc,5,294,0,73
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CEL,1056,9,135942279,135942279,Missense_Mutation,SNP,G,A,c.(733-735)Gtg>Atg,6,400,0,162
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SURF4,6836,9,136234250,136234250,Silent,SNP,G,A,c.(118-120)gaC>gaT,6,634,0,151
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SLC2A6,11182,9,136339153,136339153,Missense_Mutation,SNP,C,T,c.(985-987)Gcc>Acc,5,281,0,74
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MRPS2,51116,9,138395682,138395682,Silent,SNP,G,A,c.(592-594)acG>acA,5,214,0,103
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SNAPC4,6621,9,139277939,139277939,Missense_Mutation,SNP,G,A,c.(1681-1683)tCc>tTc,6,370,0,186
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NOTCH1,4851,9,139418190,139418190,Missense_Mutation,SNP,G,A,c.(382-384)Cgc>Tgc,5,245,0,108
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TOR4A,54863,9,140173862,140173862,Missense_Mutation,SNP,G,A,c.(721-723)Gag>Aag,5,193,0,102
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,EHMT1,79813,9,140605425,140605425,Missense_Mutation,SNP,C,T,c.(28-30)Ccg>Tcg,7,330,0,82
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,EHMT1,79813,9,140728804,140728804,Missense_Mutation,SNP,G,A,c.(3544-3546)Ggg>Agg,6,238,0,102
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CACNA1B,774,9,140972570,140972570,Missense_Mutation,SNP,G,A,c.(4954-4956)Gcc>Acc,5,111,0,48
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DIP2C,22982,10,402382,402382,Missense_Mutation,SNP,G,A,c.(2968-2970)aCg>aTg,6,303,0,116
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PFKP,5214,10,3143603,3143603,Missense_Mutation,SNP,G,A,c.(310-312)cGg>cAg,6,255,0,65
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FAM208B,54906,10,5772988,5772988,Silent,SNP,G,A,c.(1024-1026)gcG>gcA,4,108,0,82
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ANKRD16,54522,10,5925959,5925959,Silent,SNP,G,A,c.(658-660)gtC>gtT,5,245,0,94
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MCM10,55388,10,13239735,13239735,Missense_Mutation,SNP,G,A,c.(2089-2091)cGt>cAt,5,148,0,84
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ACBD5,91452,10,27484934,27484934,IGR,SNP,T,C,,4,17,0,13
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,WAC,51322,10,28827286,28827286,Intron,SNP,A,G,,4,53,0,17
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TMEM26,219623,10,63170103,63170103,Missense_Mutation,SNP,C,T,c.(1084-1086)Gac>Aac,5,104,0,61
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DDX50,79009,10,70706331,70706331,Missense_Mutation,SNP,G,A,c.(2158-2160)cGa>cAa,7,347,0,130
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CDH23,64072,10,73537593,73537593,Missense_Mutation,SNP,G,A,c.(5017-5019)Ggc>Agc,8,470,0,214
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,P4HA1,5033,10,74773988,74773988,Silent,SNP,C,T,c.(1360-1362)ctG>ctA,5,182,0,81
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KAT6B,23522,10,76719786,76719786,Missense_Mutation,SNP,G,A,c.(679-681)cGt>cAt,6,492,0,224
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DUSP13,51207,10,76855449,76855449,Missense_Mutation,SNP,C,T,c.(277-279)cGt>cAt,7,323,0,192
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,C10orf11,83938,10,77818417,77818417,Intron,SNP,C,T,,7,189,0,85
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,OPN4,94233,10,88417843,88417843,Silent,SNP,C,T,c.(343-345)agC>agT,5,170,0,86
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,LDB3,11155,10,88492352,88492352,Intron,SNP,G,A,,6,147,0,71
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MYOF,26509,10,95162000,95162000,Missense_Mutation,SNP,C,T,c.(979-981)Gat>Aat,5,139,0,58
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ENTPD1,953,10,97605191,97605191,Silent,SNP,C,T,c.(649-651)gcC>gcT,5,275,0,178
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZFYVE27,118813,10,99508054,99508054,Missense_Mutation,SNP,C,T,c.(484-486)Cgc>Tgc,174,419,0,207
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SEC31B,25956,10,102247538,102247538,Silent,SNP,G,A,c.(3373-3375)gtC>gtT,9,552,0,285
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SUFU,51684,10,104353756,104353756,Silent,SNP,C,T,c.(688-690)ggC>ggT,5,137,0,74
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RBM20,282996,10,112541217,112541217,Missense_Mutation,SNP,G,A,c.(850-852)Gga>Aga,9,679,0,307
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NRAP,4892,10,115355436,115355436,Silent,SNP,G,A,c.(4480-4482)atC>atT,6,227,0,90
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,VWA2,340706,10,116049188,116049188,Missense_Mutation,SNP,G,A,c.(2062-2064)Gtg>Atg,7,292,0,126
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PDZD8,118987,10,119134678,119134678,Missense_Mutation,SNP,C,T,c.(61-63)Gcc>Acc,9,122,0,62
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CACUL1,143384,10,120514138,120514138,Missense_Mutation,SNP,G,A,c.(136-138)cCg>cTg,5,314,0,78
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NANOS1,340719,10,120790167,120790167,Missense_Mutation,SNP,G,A,c.(853-855)gGc>gAc,4,32,0,34
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,C10orf137,0,10,127429980,127429980,Intron,SNP,G,A,,4,25,0,14
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,AL450307.1,0,10,133608154,133608154,Silent,SNP,G,A,c.(220-222)tcC>tcT,5,103,0,101
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TTC40,0,10,134755948,134755948,Missense_Mutation,SNP,C,T,c.(40-42)aGc>aAc,4,24,0,22
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,B4GALNT4,338707,11,380951,380951,Splice_Site,SNP,G,A,c.(2995-2997)aGg>aAg,6,91,0,66
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DEAF1,10522,11,679753,679753,Missense_Mutation,SNP,G,A,c.(1060-1062)aCg>aTg,9,505,0,211
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SLC25A22,79751,11,794492,794492,Silent,SNP,G,A,c.(166-168)acC>acT,6,447,0,142
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,AP2A2,161,11,933580,933580,Intron,SNP,G,A,,9,251,0,121
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CHRNA10,57053,11,3688841,3688841,Silent,SNP,G,A,c.(514-516)ttC>ttT,7,475,0,214
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PRKCDBP,112464,11,6341718,6341718,5'UTR,SNP,G,T,,3,8,0,33
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF215,7762,11,7005409,7005409,Silent,SNP,G,A,c.(853-855)tcG>tcA,4,90,0,34
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TRIM66,9866,11,8642853,8642853,Silent,SNP,G,A,c.(2743-2745)Ctg>Ttg,5,50,0,61
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SCUBE2,57758,11,9113054,9113054,Missense_Mutation,SNP,G,T,c.(22-24)Cgt>Agt,29,50,0,23
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,COPB1,1315,11,14508020,14508020,Missense_Mutation,SNP,G,A,c.(730-732)Cgt>Tgt,7,183,0,75
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PDE3B,5140,11,14865535,14865535,Missense_Mutation,SNP,G,A,c.(2482-2484)aGg>aAg,5,217,0,136
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ABCC8,6833,11,17417237,17417237,Silent,SNP,G,A,c.(4225-4227)atC>atT,7,488,0,290
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,USH1C,10083,11,17518337,17518337,Silent,SNP,G,A,c.(1612-1614)gcC>gcT,5,251,0,88
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KCNC1,3746,11,17757775,17757775,Silent,SNP,C,T,c.(226-228)Ctg>Ttg,6,307,1,172
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KCNC1,3746,11,17757962,17757962,Missense_Mutation,SNP,G,A,c.(412-414)gGc>gAc,5,210,0,114
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NAV2,89797,11,19914059,19914059,Nonsense_Mutation,SNP,C,T,c.(919-921)Cga>Tga,51,184,0,127
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CHST1,8534,11,45672051,45672051,Silent,SNP,C,T,c.(421-423)ccG>ccA,13,181,0,120
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DGKZ,8525,11,46401446,46401446,Silent,SNP,C,T,c.(3301-3303)aaC>aaT,6,210,0,75
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,OR5A1,219982,11,59210815,59210815,Silent,SNP,G,A,c.(172-174)ctG>ctA,6,149,0,138
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DAGLA,747,11,61511606,61511606,Missense_Mutation,SNP,G,A,c.(2773-2775)aGc>aAc,6,315,0,184
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TMEM258,746,11,61563050,61563050,5'Flank,SNP,C,T,,7,209,0,72
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,AHNAK,79026,11,62289333,62289333,Silent,SNP,A,G,c.(12556-12558)Tta>Cta,7,308,1,213
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CHRM1,1128,11,62678021,62678021,Silent,SNP,G,A,c.(550-552)tcC>tcT,5,238,0,102
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,C11orf84,144097,11,63585444,63585444,Missense_Mutation,SNP,C,T,c.(295-297)Cgg>Tgg,6,388,0,171
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,C11orf85,283129,11,64717891,64717891,Silent,SNP,G,A,c.(157-159)cgC>cgT,5,185,0,74
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,LTBP3,4054,11,65318704,65318704,Intron,SNP,G,A,,7,229,0,106
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CCS,9973,11,66372768,66372768,Intron,SNP,C,T,,6,340,0,174
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SPTBN2,6712,11,66468435,66468435,Silent,SNP,G,A,c.(3133-3135)acC>acT,6,509,0,249
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,AIP,9049,11,67258406,67258406,Missense_Mutation,SNP,G,A,c.(934-936)cGg>cAg,6,274,0,180
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PITPNM1,9600,11,67270154,67270154,Silent,SNP,G,A,c.(112-114)agC>agT,5,252,0,102
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SHANK2,22941,11,70333740,70333740,Silent,SNP,G,A,c.(1519-1521)gaC>gaT,5,139,0,138
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,P2RY2,5029,11,72945990,72945990,Silent,SNP,C,T,c.(784-786)caC>caT,5,129,0,76
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SERPINH1,871,11,75282886,75282886,Missense_Mutation,SNP,C,T,c.(1015-1017)Cgc>Tgc,8,366,0,204
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CAPN5,726,11,76796032,76796032,Missense_Mutation,SNP,G,A,c.(100-102)Gcc>Acc,8,509,0,156
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GRM5,2915,11,88242150,88242150,Silent,SNP,C,T,c.(3247-3249)gcG>gcA,6,326,0,138
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KIAA1731,85459,11,93420878,93420878,Nonsense_Mutation,SNP,C,T,c.(1183-1185)Cga>Tga,6,159,0,82
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CASP12,100506742,11,104757536,104757536,Nonsense_Mutation,SNP,G,A,c.(931-933)Caa>Taa,5,85,0,33
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DIXDC1,85458,11,111865833,111865833,Splice_Site,SNP,G,A,c.e15+1,5,124,0,77
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ANKK1,255239,11,113269727,113269727,Missense_Mutation,SNP,C,T,c.(1036-1038)Cgt>Tgt,4,81,0,78
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CCDC77,84318,12,551057,551057,Missense_Mutation,SNP,G,A,c.(1438-1440)Ggt>Agt,5,119,0,70
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PTPN6,5777,12,7064077,7064077,Missense_Mutation,SNP,G,A,c.(436-438)Gtg>Atg,11,396,0,228
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,EPS8,2059,12,15784441,15784441,Missense_Mutation,SNP,C,T,c.(1978-1980)aGc>aAc,7,423,0,171
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DBX2,440097,12,45444716,45444716,5'UTR,SNP,G,A,,5,130,0,90
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KMT2D,8085,12,49434435,49434435,Missense_Mutation,SNP,G,A,c.(7117-7119)tCc>tTc,39,108,0,79
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,IFNG,3458,12,68551970,68551970,Splice_Site,SNP,C,T,c.e2+1,4,80,0,43
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SLC35E3,55508,12,69160432,69160432,3'UTR,SNP,A,T,,4,27,0,30
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SLC35E3,55508,12,69160623,69160623,3'UTR,SNP,T,C,,5,132,1,56
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KRR1,11103,12,75900340,75900340,Missense_Mutation,SNP,C,T,c.(442-444)gGt>gAt,5,202,0,69
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ELK3,2004,12,96640916,96640916,Missense_Mutation,SNP,G,A,c.(406-408)Gaa>Aaa,7,258,0,141
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,UTP20,27340,12,101689268,101689268,Missense_Mutation,SNP,C,T,c.(1261-1263)cCa>cTa,4,48,0,40
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MMAB,326625,12,110007819,110007819,Intron,SNP,G,C,,4,39,0,25
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TRPV4,59341,12,110240871,110240871,Silent,SNP,G,A,c.(637-639)Ctg>Ttg,7,378,0,198
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ATP2A2,488,12,110765467,110765467,Missense_Mutation,SNP,C,T,c.(739-741)aCa>aTa,6,243,0,166
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CUX2,23316,12,111779657,111779657,Silent,SNP,C,T,c.(3457-3459)tgC>tgT,5,122,0,71
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SH2B3,10019,12,111884834,111884834,Missense_Mutation,SNP,G,A,c.(922-924)cGa>cAa,6,295,0,110
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,HECTD4,283450,12,112638548,112638548,Nonsense_Mutation,SNP,G,A,c.(7195-7197)Cga>Tga,4,71,0,48
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,AL021546.6,0,12,120892801,120892801,Intron,SNP,G,C,,5,140,0,50
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KDM2B,84678,12,121890915,121890915,Intron,SNP,G,A,,4,53,0,61
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SETD1B,23067,12,122261171,122261171,Silent,SNP,C,T,c.(4684-4686)ccC>ccT,4,113,0,62
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RSRC2,65117,12,123001882,123001882,Missense_Mutation,SNP,G,A,c.(493-495)tCg>tTg,9,596,0,272
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GTF2H3,2967,12,124124516,124124516,Intron,SNP,A,C,,5,165,0,62
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DDX51,317781,12,132626653,132626653,Intron,SNP,G,A,,2,0,0,15
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FBRSL1,57666,12,133084945,133084945,Intron,SNP,G,A,,3,10,0,20
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TPTE2,93492,13,20000610,20000610,Silent,SNP,G,A,c.(1348-1350)gaC>gaT,5,130,0,129
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SPATA13,221178,13,24823957,24823957,Missense_Mutation,SNP,G,A,c.(121-123)Gaa>Aaa,4,67,0,46
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FRY,10129,13,32868651,32868651,Silent,SNP,G,A,c.(8725-8727)ctG>ctA,6,297,0,200
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,BRCA2,675,13,32969070,32969070,Splice_Site,SNP,G,A,c.(9499-9501)gaG>gaA,4,117,0,92
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZC3H13,23091,13,46543189,46543189,Nonsense_Mutation,SNP,G,A,c.(3490-3492)Cga>Tga,7,324,0,192
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MYCBP2,23077,13,77862427,77862427,De_novo_Start_OutOfFrame,SNP,G,A,,6,236,0,130
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DOCK9,23348,13,99537655,99537655,Intron,SNP,C,T,,5,51,0,40
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TPP2,7174,13,103260046,103260046,Intron,SNP,T,C,,6,156,0,73
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RASA3,22821,13,114748751,114748751,3'UTR,SNP,G,A,,4,91,0,64
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MMP14,4323,14,23311804,23311804,Missense_Mutation,SNP,G,A,c.(565-567)aGc>aAc,7,319,0,145
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CPNE6,9362,14,24542824,24542824,Silent,SNP,G,A,c.(283-285)gaG>gaA,7,251,0,111
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TINF2,26277,14,24709364,24709364,Intron,SNP,G,A,,8,604,1,270
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,AP4S1,11154,14,31552813,31552813,Intron,SNP,T,C,,8,184,0,41
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SRP54,6729,14,35492287,35492287,Splice_Site,SNP,G,A,c.e15+1,4,43,0,32
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TTC6,319089,14,38091789,38091789,Missense_Mutation,SNP,G,A,c.(520-522)Gct>Act,6,175,0,118
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PYGL,5836,14,51379764,51379764,Missense_Mutation,SNP,G,A,c.(1603-1605)Ctc>Ttc,6,254,0,154
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PSMC6,5706,14,53174023,53174023,Splice_Site,SNP,G,A,c.e1+1,7,281,0,102
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RDH12,145226,14,68195943,68195943,Missense_Mutation,SNP,G,A,c.(694-696)Gtc>Atc,7,647,0,370
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,UBR7,55148,14,93681589,93681589,Missense_Mutation,SNP,G,A,c.(562-564)cGt>cAt,7,309,1,179
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TCL1A,8115,14,96179059,96179059,Intron,SNP,G,A,,7,194,0,64
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RTL1,388015,14,101347726,101347726,Missense_Mutation,SNP,C,T,c.(3400-3402)Gca>Aca,5,248,0,155
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MIR412,574433,14,101531792,101531792,RNA,SNP,C,T,,6,101,0,47
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PPP1R13B,23368,14,104201544,104201544,Intron,SNP,C,T,,6,316,0,118
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,C14orf180,400258,14,105057789,105057789,IGR,SNP,G,A,,5,98,0,73
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,JAG2,3714,14,105624047,105624047,Silent,SNP,C,T,c.(469-471)ccG>ccA,6,301,0,201
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SNHG14,0,15,25492564,25492564,RNA,SNP,G,A,,5,158,0,150
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,HERC2,8924,15,28362315,28362315,Intron,SNP,G,A,,8,643,1,307
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,HERC2,8924,15,28460800,28460800,Silent,SNP,G,A,c.(6175-6177)caC>caT,6,454,0,208
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ARHGAP11B,89839,15,30919103,30919103,Missense_Mutation,SNP,G,A,c.(79-81)cGt>cAt,6,201,0,129
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SPINT1,6692,15,41148962,41148962,Intron,SNP,C,A,,5,99,1,61
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SPTBN5,51332,15,42152810,42152810,Silent,SNP,C,T,c.(7960-7962)ctG>ctA,4,48,0,27
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PLA2G4D,283748,15,42379894,42379894,Missense_Mutation,SNP,T,C,c.(49-51)gAg>gGg,5,209,1,87
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PPIP5K1,9677,15,43828355,43828355,Intron,SNP,G,A,,6,126,0,62
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,HDC,3067,15,50550679,50550679,Silent,SNP,G,A,c.(238-240)taC>taT,6,205,0,184
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FAM81A,145773,15,59808970,59808970,Missense_Mutation,SNP,G,A,c.(913-915)Ggg>Agg,5,91,0,68
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PARP6,56965,15,72551948,72551948,Splice_Site,SNP,C,T,c.e11+1,5,52,0,28
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CSPG4,1464,15,75974709,75974709,Silent,SNP,G,A,c.(4873-4875)ggC>ggT,5,171,0,105
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ADAMTS7,11173,15,79092879,79092879,Silent,SNP,G,A,c.(109-111)acC>acT,7,638,0,282
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF592,9640,15,85342077,85342077,Missense_Mutation,SNP,G,A,c.(2995-2997)Gtg>Atg,5,296,0,195
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF710,374655,15,90611451,90611451,Missense_Mutation,SNP,C,T,c.(1081-1083)aCg>aTg,5,123,0,86
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,VPS33B,26276,15,91549668,91549668,Silent,SNP,G,A,c.(784-786)gtC>gtT,7,542,0,282
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CTD-2054N24.2,0,15,100353197,100353197,Missense_Mutation,SNP,T,G,c.(151-153)aTg>aGg,7,391,1,161
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ASB7,140460,15,101169708,101169708,Missense_Mutation,SNP,G,A,c.(277-279)cGg>cAg,5,159,0,64
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,WFIKKN1,117166,16,679785,679785,5'Flank,SNP,G,A,,6,170,0,95
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,WDR90,197335,16,716748,716748,Missense_Mutation,SNP,G,A,c.(4960-4962)Ggt>Agt,5,163,0,75
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CCDC78,124093,16,773170,773170,Intron,SNP,G,A,,5,235,0,177
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PRSS29P,123787,16,1312932,1312932,lincRNA,SNP,G,A,,5,137,0,92
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SPSB3,90864,16,1827806,1827806,Silent,SNP,G,A,c.(661-663)ggC>ggT,5,254,0,146
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,IGFALS,3483,16,1841590,1841590,Missense_Mutation,SNP,G,A,c.(829-831)Cgc>Tgc,6,344,0,195
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SRRM2,23524,16,2816128,2816128,Nonsense_Mutation,SNP,C,T,c.(5599-5601)Cga>Tga,6,250,0,111
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PPL,5493,16,4952508,4952508,Missense_Mutation,SNP,G,A,c.(337-339)Cgt>Tgt,6,142,0,77
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CIITA,4261,16,11016049,11016049,Missense_Mutation,SNP,G,A,c.(3175-3177)Gtg>Atg,7,354,0,143
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,LITAF,9516,16,11642575,11642575,3'UTR,SNP,C,T,,6,157,0,42
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ACSM1,116285,16,20648475,20648475,Intron,SNP,C,T,,6,208,0,97
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,UBFD1,56061,16,23568745,23568745,5'UTR,SNP,C,A,,6,136,0,37
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CCDC101,112869,16,28599996,28599996,Intron,SNP,T,C,,5,80,0,42
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF785,146540,16,30596911,30596911,Missense_Mutation,SNP,G,T,c.(22-24)Cgc>Agc,4,78,0,50
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TGFB1I1,7041,16,31488751,31488751,Missense_Mutation,SNP,G,A,c.(1240-1242)Ggc>Agc,6,412,0,163
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,IGHV3OR16-9,28307,16,32077645,32077645,RNA,SNP,G,C,,5,226,0,238
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF423,23090,16,49660122,49660122,Missense_Mutation,SNP,T,A,c.(3535-3537)aAc>aTc,7,135,0,116
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RPGRIP1L,23322,16,53656162,53656162,Missense_Mutation,SNP,T,G,c.(3400-3402)gAt>gCt,5,85,0,54
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CETP,1071,16,57012176,57012176,Intron,SNP,G,A,,7,164,0,99
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PSKH1,5681,16,67943104,67943104,Missense_Mutation,SNP,G,A,c.(451-453)cGt>cAt,5,136,0,110
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RFWD3,55159,16,74657959,74657959,Missense_Mutation,SNP,G,A,c.(2191-2193)gCt>gTt,4,47,0,49
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CRISPLD2,83716,16,84922899,84922899,Missense_Mutation,SNP,G,A,c.(1369-1371)Gtg>Atg,6,222,0,109
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZC3H18,124245,16,88677712,88677712,Missense_Mutation,SNP,C,T,c.(1243-1245)Cgc>Tgc,5,139,0,79
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NXN,64359,17,708390,708390,Silent,SNP,G,A,c.(916-918)ccC>ccT,5,250,0,174
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ABR,29,17,973251,973251,Missense_Mutation,SNP,G,A,c.(973-975)aCa>aTa,7,162,0,79
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SLC43A2,124935,17,1494220,1494220,Silent,SNP,G,A,c.(952-954)agC>agT,5,130,0,89
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,HIC1,3090,17,1960943,1960943,Missense_Mutation,SNP,G,A,c.(1015-1017)gGt>gAt,6,267,0,150
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,POLR2A,5430,17,7388079,7388079,5'UTR,SNP,C,T,,5,117,0,49
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TP53,7157,17,7579349,7579349,Missense_Mutation,SNP,A,C,c.(337-339)tTc>tGc,33,64,0,68
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RASD1,51655,17,17398646,17398646,Silent,SNP,G,A,c.(637-639)taC>taT,8,544,1,94
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SREBF1,6720,17,17716065,17716065,Silent,SNP,G,A,c.(3313-3315)ccC>ccT,7,501,0,61
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DRG2,1819,17,18009762,18009762,Missense_Mutation,SNP,C,T,c.(970-972)Cgg>Tgg,6,277,0,77
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MYO15A,51168,17,18058496,18058496,Missense_Mutation,SNP,G,A,c.(8296-8298)cGa>cAa,9,678,0,208
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ALDH3A2,224,17,19568315,19568315,Missense_Mutation,SNP,G,A,c.(1162-1164)Gtc>Atc,8,509,0,212
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MYO18A,399687,17,27493523,27493523,Missense_Mutation,SNP,G,A,c.(436-438)Cgg>Tgg,5,162,0,95
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NF1,4763,17,29705956,29705956,IGR,SNP,T,C,,7,255,0,124
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF830,91603,17,33289086,33289086,Silent,SNP,G,A,c.(499-501)gaG>gaA,5,202,0,93
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,LIG3,3980,17,33323206,33323206,Missense_Mutation,SNP,G,A,c.(1735-1737)Gta>Ata,6,152,0,38
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SLFN12L,100506736,17,33801967,33801967,Missense_Mutation,SNP,C,A,c.(1741-1743)tGg>tTg,4,30,1,46
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SYNRG,11276,17,35880754,35880754,Intron,SNP,G,A,,5,108,0,64
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SRCIN1,80725,17,36718112,36718112,Silent,SNP,G,A,c.(1285-1287)cgC>cgT,10,92,0,60
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MLLT6,4302,17,36873022,36873022,Missense_Mutation,SNP,G,A,c.(1438-1440)cGt>cAt,7,493,0,241
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PSMB3,5691,17,36920410,36920410,Missense_Mutation,SNP,G,A,c.(607-609)cGa>cAa,5,213,0,134
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KRTAP4-12,83755,17,39280267,39280267,Silent,SNP,G,A,c.(106-108)tgC>tgT,7,350,1,215
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KRT37,8688,17,39580670,39580670,Missense_Mutation,SNP,C,A,c.(106-108)Gca>Tca,5,171,0,78
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KRT32,3882,17,39619109,39619109,Missense_Mutation,SNP,C,T,c.(1189-1191)cGg>cAg,6,188,0,85
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,HAP1,9001,17,39887740,39887740,Intron,SNP,C,T,,5,112,1,63
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,HSD17B1,3292,17,40706503,40706503,Missense_Mutation,SNP,G,A,c.(619-621)cGc>cAc,7,250,0,100
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,COASY,80347,17,40714482,40714482,5'UTR,SNP,C,T,,5,141,0,45
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PLEKHH3,79990,17,40823553,40823553,Missense_Mutation,SNP,G,A,c.(1099-1101)tCg>tTg,7,272,0,107
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TMEM101,84336,17,42091796,42091796,Missense_Mutation,SNP,C,T,c.(247-249)Gca>Aca,6,340,0,93
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MAP3K14,9020,17,43351571,43351571,RNA,SNP,G,A,,6,322,0,103
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NGFR,4804,17,47583899,47583899,Silent,SNP,C,T,c.(445-447)tgC>tgT,6,351,0,148
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,EME1,146956,17,48458188,48458188,Missense_Mutation,SNP,G,A,c.(1600-1602)cGt>cAt,7,348,0,133
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,EPN3,55040,17,48608795,48608795,5'Flank,SNP,G,A,,5,170,0,75
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,COX11,1353,17,53042138,53042138,Nonsense_Mutation,SNP,G,A,c.(442-444)Cga>Tga,7,297,0,123
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,LINC00868,283994,17,74846507,74846507,lincRNA,SNP,C,T,,5,122,0,94
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TMC8,147138,17,76128029,76128029,Silent,SNP,G,A,c.(214-216)acG>acA,4,63,0,43
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DNAH17,8632,17,76497937,76497937,Missense_Mutation,SNP,G,A,c.(5200-5202)Ctc>Ttc,5,170,0,104
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CBX4,8535,17,77808123,77808123,Missense_Mutation,SNP,C,T,c.(1318-1320)Ggg>Agg,5,208,0,88
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TBC1D16,125058,17,77984080,77984080,Missense_Mutation,SNP,C,T,c.(658-660)Gtg>Atg,6,283,0,109
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CCDC40,55036,17,78023799,78023799,Intron,SNP,G,A,,7,598,0,310
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,C17orf70,80233,17,79518141,79518141,Missense_Mutation,SNP,C,A,c.(379-381)Gat>Tat,5,156,0,68
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,P4HB,5034,17,79804517,79804517,Intron,SNP,A,T,,24,94,0,69
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ASPSCR1,79058,17,79973015,79973015,Intron,SNP,C,T,,5,167,0,140
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RFNG,5986,17,80007549,80007549,Intron,SNP,G,A,,2,0,0,9
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FN3K,64122,17,80699189,80699189,Nonsense_Mutation,SNP,C,T,c.(388-390)Cga>Tga,7,417,0,164
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MIB1,57534,18,19348706,19348706,Missense_Mutation,SNP,G,A,c.(523-525)aGg>aAg,5,167,0,84
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RIOK3,8780,18,21043945,21043945,Missense_Mutation,SNP,C,T,c.(193-195)cCa>cTa,4,44,0,29
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MAPRE2,10982,18,32621513,32621513,Missense_Mutation,SNP,C,T,c.(10-12)Ccg>Tcg,6,258,0,94
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MOCOS,55034,18,33795625,33795625,Silent,SNP,G,A,c.(1480-1482)ggG>ggA,5,245,1,125
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FHOD3,80206,18,34232611,34232611,Intron,SNP,G,A,,5,261,0,109
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NEDD4L,23327,18,56018213,56018213,Intron,SNP,C,T,,6,135,0,46
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ATP9B,374868,18,77137265,77137265,Missense_Mutation,SNP,C,T,c.(3325-3327)aCc>aTc,5,171,0,115
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CTDP1,9150,18,77475341,77475341,Silent,SNP,G,A,c.(1879-1881)ccG>ccA,9,577,0,221
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CTDP1,9150,18,77477872,77477872,Missense_Mutation,SNP,C,T,c.(2272-2274)cCg>cTg,6,353,0,173
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MED16,10025,19,877010,877010,Silent,SNP,G,A,c.(1522-1524)caC>caT,5,155,1,123
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MED16,10025,19,880126,880126,Silent,SNP,G,A,c.(1162-1164)gaC>gaT,6,211,0,125
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,HMHA1,23526,19,1081602,1081602,Silent,SNP,G,A,c.(2242-2244)ggG>ggA,5,76,0,30
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SBNO2,22904,19,1122952,1122952,Missense_Mutation,SNP,G,A,c.(721-723)Ccc>Tcc,4,84,0,51
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MBD3,53615,19,1575257,1575257,IGR,SNP,T,C,,4,70,0,41
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GIPC3,126326,19,3586883,3586883,Silent,SNP,C,T,c.(481-483)aaC>aaT,5,246,0,145
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SH3GL1,6455,19,4363791,4363791,Missense_Mutation,SNP,G,A,c.(550-552)Cgc>Tgc,7,470,0,217
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,C3,718,19,6711182,6711182,Missense_Mutation,SNP,G,A,c.(1294-1296)tCg>tTg,6,320,0,186
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,EMR1,2015,19,6924818,6924818,Missense_Mutation,SNP,C,T,c.(1921-1923)Ctc>Ttc,5,204,0,118
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CD320,51293,19,8368751,8368751,Missense_Mutation,SNP,C,T,c.(490-492)Gag>Aag,5,196,0,113
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DNMT1,1786,19,10246525,10246525,Missense_Mutation,SNP,G,A,c.(4612-4614)Cgc>Tgc,5,136,0,105
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DNMT1,1786,19,10270547,10270547,Missense_Mutation,SNP,G,A,c.(1093-1095)Ctc>Ttc,6,269,0,191
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,S1PR5,53637,19,10625015,10625015,Missense_Mutation,SNP,G,A,c.(673-675)Cgc>Tgc,6,237,0,185
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CCDC151,115948,19,11536978,11536978,Missense_Mutation,SNP,G,A,c.(949-951)Cgc>Tgc,4,105,0,47
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF709,163051,19,12661338,12661338,Intron,SNP,C,T,,4,84,0,24
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CACNA1A,773,19,13318798,13318798,Missense_Mutation,SNP,G,A,c.(6850-6852)Cgc>Tgc,3,15,0,19
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FKBP8,23770,19,18650526,18650526,Silent,SNP,G,A,c.(295-297)aaC>aaT,5,80,0,47
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CRLF1,9244,19,18704386,18704386,Missense_Mutation,SNP,G,A,c.(1258-1260)cCt>cTt,6,265,1,109
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF253,56242,19,20002821,20002821,Silent,SNP,C,T,c.(763-765)ccC>ccT,6,407,0,275
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF737,100129842,19,20728086,20728086,Missense_Mutation,SNP,C,G,c.(922-924)aGc>aCc,8,269,1,216
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF431,170959,19,21366471,21366471,Silent,SNP,T,C,c.(1363-1365)ccT>ccC,5,309,0,208
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF429,353088,19,21724567,21724567,Splice_Site,SNP,T,C,c.(226-228)gaT>gaC,4,93,0,46
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF257,113835,19,22271863,22271863,Silent,SNP,C,A,c.(1309-1311)ggC>ggA,7,204,1,182
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF730,100129543,19,23316956,23316956,Silent,SNP,G,A,c.(76-78)caG>caA,52,117,1,111
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF724P,440519,19,23405378,23405378,Missense_Mutation,SNP,T,C,c.(1669-1671)Act>Gct,6,296,0,227
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF91,7644,19,23542628,23542628,Silent,SNP,C,T,c.(3151-3153)aaG>aaA,7,148,1,123
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KIAA0355,9710,19,34811011,34811011,Missense_Mutation,SNP,G,A,c.(694-696)gGg>gAg,6,272,0,83
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,UPK1A,11045,19,36168797,36168797,Splice_Site,SNP,G,A,c.(730-732)acG>acA,5,138,0,56
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ECH1,1891,19,39306971,39306971,Silent,SNP,G,A,c.(682-684)acC>acT,5,278,0,138
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SARS2,54938,19,39408593,39408593,Missense_Mutation,SNP,G,A,c.(1018-1020)Cgg>Tgg,6,403,0,303
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DYRK1B,9149,19,40319000,40319000,Silent,SNP,G,A,c.(742-744)tgC>tgT,7,315,1,134
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,AKT2,208,19,40741239,40741239,Silent,SNP,G,A,c.(1192-1194)agC>agT,7,366,0,226
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PHLDB3,653583,19,44008090,44008090,Missense_Mutation,SNP,C,T,c.(181-183)Gaa>Aaa,6,273,0,105
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CEACAM19,56971,19,45184582,45184582,Missense_Mutation,SNP,C,T,c.(790-792)Cgg>Tgg,4,110,0,54
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ERCC1,2067,19,45924474,45924474,Missense_Mutation,SNP,C,T,c.(283-285)Ggg>Agg,5,240,0,105
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NOVA2,4858,19,46443778,46443778,Silent,SNP,G,A,c.(820-822)acC>acT,5,253,0,194
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,STRN4,29888,19,47230799,47230799,Silent,SNP,G,A,c.(1156-1158)gtC>gtT,5,164,0,83
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ARHGAP35,2909,19,47423180,47423180,Silent,SNP,C,T,c.(1246-1248)taC>taT,6,165,0,87
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TRPM4,54795,19,49671831,49671831,Missense_Mutation,SNP,C,T,c.(634-636)Cgg>Tgg,6,410,0,199
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SCAF1,58506,19,50155968,50155968,Silent,SNP,C,T,c.(2320-2322)gaC>gaT,4,85,0,53
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF577,84765,19,52381754,52381754,Silent,SNP,G,A,c.(73-75)ttC>ttT,5,102,0,58
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF614,80110,19,52516429,52516429,IGR,SNP,G,A,,5,156,0,38
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF836,162962,19,52660107,52660107,Missense_Mutation,SNP,C,T,c.(829-831)Ggt>Agt,5,218,0,141
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF611,81856,19,53208225,53208225,Missense_Mutation,SNP,G,A,c.(2083-2085)Cgt>Tgt,4,99,1,58
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF816,125893,19,53456549,53456549,Intron,SNP,T,G,,4,89,0,25
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CACNG7,59284,19,54418681,54418681,Missense_Mutation,SNP,G,A,c.(346-348)Gtc>Atc,7,236,0,126
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF784,147808,19,56133363,56133363,Silent,SNP,G,A,c.(724-726)caC>caT,5,225,0,103
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,U2AF2,11338,19,56180480,56180480,Missense_Mutation,SNP,G,A,c.(976-978)gGg>gAg,5,183,0,86
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF460,10794,19,57803344,57803344,Missense_Mutation,SNP,G,A,c.(1435-1437)Gtg>Atg,6,139,0,87
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZNF211,10520,19,58152967,58152967,Silent,SNP,C,T,c.(1111-1113)tgC>tgT,5,132,0,124
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,STK35,140901,20,2083533,2083533,Silent,SNP,G,A,c.(412-414)aaG>aaA,7,576,0,118
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SLC4A11,83959,20,3208973,3208973,Silent,SNP,G,A,c.(2536-2538)ttC>ttT,5,224,0,146
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SLC23A2,9962,20,4837771,4837771,Silent,SNP,C,T,c.(1798-1800)tcG>tcA,4,100,0,63
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GPCPD1,56261,20,5564920,5564920,Intron,SNP,C,T,,4,56,0,38
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ACSS1,84532,20,25011577,25011577,Missense_Mutation,SNP,G,A,c.(448-450)aCg>aTg,7,493,0,228
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DUSP15,128853,20,30437560,30437560,Silent,SNP,C,T,c.(607-609)ccG>ccA,5,216,0,125
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ITCH,83737,20,33005015,33005015,Missense_Mutation,SNP,A,G,c.(568-570)Atc>Gtc,6,106,0,63
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ITCH,83737,20,33005016,33005016,Missense_Mutation,SNP,T,C,c.(568-570)aTc>aCc,5,101,0,62
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,L3MBTL1,26013,20,42143342,42143342,Missense_Mutation,SNP,G,A,c.(361-363)cGg>cAg,5,191,0,86
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,IFT52,51098,20,42249520,42249520,Silent,SNP,G,A,c.(721-723)acG>acA,35,135,0,127
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TTPAL,79183,20,43108836,43108836,Missense_Mutation,SNP,G,A,c.(196-198)cGg>cAg,7,499,1,235
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,KCNS1,3787,20,43727215,43727215,Silent,SNP,G,A,c.(196-198)cgC>cgT,8,115,0,72
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SLC9A8,23315,20,48500399,48500399,Silent,SNP,C,T,c.(1285-1287)atC>atT,4,55,0,61
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZFP64,55734,20,50701658,50701658,Missense_Mutation,SNP,G,A,c.(1375-1377)tCg>tTg,6,246,0,94
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PPP4R1L,55370,20,56814724,56814724,3'UTR,SNP,C,T,,4,28,0,18
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,LAMA5,3911,20,60917336,60917336,Intron,SNP,A,G,,4,77,0,35
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,OGFR,11054,20,61441915,61441915,Missense_Mutation,SNP,G,A,c.(463-465)Gag>Aag,5,169,0,85
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ARFGAP1,55738,20,61916223,61916223,Silent,SNP,C,T,c.(721-723)tcC>tcT,5,193,0,118
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,Unknown,0,21,30830311,30830311,IGR,SNP,C,T,,6,253,1,127
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FAM3B,54097,21,42694641,42694641,Intron,SNP,C,T,,20,30,0,35
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TMPRSS3,64699,21,43792498,43792498,3'UTR,SNP,G,A,,6,155,0,67
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TRAPPC10,7109,21,45523306,45523306,Missense_Mutation,SNP,G,A,c.(3673-3675)cGg>cAg,8,650,0,201
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ADARB1,104,21,46640873,46640873,Missense_Mutation,SNP,G,A,c.(1990-1992)Gcg>Acg,21,210,0,59
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SPATC1L,84221,21,47581966,47581966,Missense_Mutation,SNP,G,A,c.(559-561)gCg>gTg,5,176,0,71
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PEX26,55670,22,18570900,18570900,3'UTR,SNP,G,A,,5,211,0,106
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,C22orf39,128977,22,19429177,19429177,IGR,SNP,A,G,,7,158,0,83
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TRMT2A,27037,22,20100270,20100270,Missense_Mutation,SNP,G,A,c.(1693-1695)cCg>cTg,5,198,0,110
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,AC002472.13,0,22,21400424,21400424,Intron,SNP,G,A,,6,108,0,64
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PPIL2,23759,22,22039997,22039997,3'UTR,SNP,G,C,,5,127,0,75
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,IGLV3-19,28797,22,23063508,23063508,RNA,SNP,G,A,,6,248,0,145
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,IGLL5,100423062,22,23230406,23230406,Missense_Mutation,SNP,G,A,c.(172-174)aGc>aAc,6,206,0,110
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GUCD1,83606,22,24939815,24939815,Missense_Mutation,SNP,G,A,c.(622-624)gCc>gTc,4,86,0,67
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TFIP11,24144,22,26902779,26902779,Missense_Mutation,SNP,C,T,c.(325-327)Gac>Aac,6,202,0,78
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PES1,23481,22,30983377,30983377,Silent,SNP,G,A,c.(262-264)ttC>ttT,5,105,0,92
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,OSBP2,23762,22,31301816,31301816,Intron,SNP,C,T,,5,148,0,83
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SLC5A4,6527,22,32643472,32643472,Missense_Mutation,SNP,G,A,c.(403-405)Cgg>Tgg,6,244,0,111
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MYH9,4627,22,36745013,36745013,Missense_Mutation,SNP,G,A,c.(268-270)aCg>aTg,6,297,0,116
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CHADL,150356,22,41634842,41634842,Silent,SNP,G,A,c.(232-234)ccC>ccT,5,103,0,60
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TTLL8,164714,22,50485700,50485700,Missense_Mutation,SNP,G,A,c.(289-291)cCg>cTg,5,136,0,78
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PANX2,56666,22,50617686,50617686,Missense_Mutation,SNP,G,A,c.(2014-2016)Gtg>Atg,5,156,0,61
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SBF1,6305,22,50900419,50900419,Silent,SNP,C,T,c.(2524-2526)ggG>ggA,5,171,0,82
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,LMF2,91289,22,50944851,50944851,Missense_Mutation,SNP,G,A,c.(457-459)cCc>cTc,4,68,0,38
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SCO2,9997,22,50962265,50962265,Silent,SNP,G,A,c.(574-576)acC>acT,6,192,0,123
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ASMT,438,X,1734144,1734144,Missense_Mutation,SNP,G,A,c.(52-54)Ggc>Agc,6,294,0,210
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,OFD1,8481,X,13779228,13779228,Missense_Mutation,SNP,C,T,c.(2284-2286)tCc>tTc,6,272,1,113
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DUSP21,63904,X,44703733,44703733,Missense_Mutation,SNP,G,A,c.(355-357)Gcg>Acg,24,27,0,36
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RBM10,8241,X,47030479,47030479,Missense_Mutation,SNP,G,A,c.(253-255)cGg>cAg,6,255,0,85
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,WAS,7454,X,48547787,48547787,Missense_Mutation,SNP,G,A,c.(1417-1419)Gtg>Atg,5,178,0,88
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CCDC22,28952,X,49105687,49105687,Silent,SNP,C,T,c.(1597-1599)gaC>gaT,4,90,0,41
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,FOXP3,50943,X,49114812,49114812,Nonsense_Mutation,SNP,G,A,c.(151-153)Cga>Tga,4,68,0,21
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TRO,7216,X,54956895,54956895,Missense_Mutation,SNP,C,A,c.(3736-3738)agC>agA,4,96,0,46
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MED12,9968,X,70349258,70349258,Missense_Mutation,SNP,C,T,c.(3670-3672)Ctc>Ttc,11,147,0,71
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,XIST,7503,X,73067301,73067301,lincRNA,SNP,C,T,,4,31,0,25
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,XIST,7503,X,73067302,73067302,lincRNA,SNP,A,G,,4,28,0,24
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,SLC16A2,6567,X,73740922,73740922,Silent,SNP,G,A,c.(526-528)gcG>gcA,9,308,0,117
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TSPAN6,7105,X,99888483,99888483,Silent,SNP,G,A,c.(502-504)taC>taT,4,76,0,26
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,WDR44,54521,X,117578997,117578997,Intron,SNP,A,G,,4,35,0,25
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,GLUD2,2747,X,120182689,120182689,Missense_Mutation,SNP,C,G,c.(1150-1152)aCt>aGt,4,172,0,166
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,MAGEA1,4100,X,152482515,152482515,Missense_Mutation,SNP,C,T,c.(496-498)Ggc>Agc,4,42,0,55
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,DNASE1L1,1774,X,153633776,153633776,Splice_Site,SNP,C,T,c.(133-135)cGg>cAg,4,34,0,16
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NLGN4Y,22829,Y,16734202,16734202,Missense_Mutation,SNP,G,A,c.(202-204)gGt>gAt,5,174,0,158
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,NIPAL3,57185,1,24780692,24780693,Intron,INS,-,T,,14,5,,
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,STRIP1,85369,1,110586197,110586201,Intron,DEL,GGCTG,-,,4,147,,
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PKP1,5317,1,201262936,201262937,Intron,INS,-,T,,6,13,,
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ACVR2B,93,3,38523995,38523999,Frame_Shift_Del,DEL,GTGGT,-,c.(1288-1293)gtggtgfs,45,310,,
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,Unknown,0,5,110285503,110285504,IGR,INS,-,TC,,11,69,,
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,8,24,,
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PPP2R2A,5520,8,26151190,26151191,Frame_Shift_Ins,INS,-,GA,c.(16-18)ggafs,38,96,,
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,RP11-443N24.2,0,12,25957435,25957443,lincRNA,DEL,AAGAACAGG,-,,11,13,,
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,PAN2,9924,12,56716743,56716744,Intron,INS,-,T,,9,28,,
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,STXBP2,6813,19,7705099,7705108,Intron,DEL,TGTCTGCGTC,-,,8,154,,
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,CYP4F8,11283,19,15729123,15729124,RNA,INS,-,CCAACCCA,,3,98,,
RP-1532_PCProject_0093_T2_v2_Exome_OnPrem,TSPEAR,54084,21,45948470,45948471,Intron,INS,-,G,,19,32,,
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,DFFB,1677,1,3777052,3777052,Intron,SNP,T,C,,5,175,0,81
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ARHGEF10L,55160,1,17934424,17934424,Silent,SNP,G,A,c.(559-561)ccG>ccA,3,36,1,38
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,HSPG2,3339,1,22159832,22159832,Missense_Mutation,SNP,G,A,c.(11023-11025)cCg>cTg,6,488,0,241
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,HCRTR1,3061,1,32085144,32085144,Missense_Mutation,SNP,G,A,c.(211-213)Gtg>Atg,6,476,0,222
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,GIPC2,54810,1,78560758,78560758,Missense_Mutation,SNP,G,C,c.(547-549)aaG>aaC,4,200,0,82
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,CELSR2,1952,1,109793331,109793331,Silent,SNP,G,A,c.(628-630)gaG>gaA,68,323,0,177
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,FLG,2312,1,152284711,152284711,Missense_Mutation,SNP,C,T,c.(2650-2652)cGt>cAt,7,940,0,602
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,DAP3,7818,1,155701824,155701824,Splice_Site,SNP,G,A,c.(991-993)aaG>aaA,6,285,1,197
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,DUSP27,92235,1,167088577,167088577,Missense_Mutation,SNP,G,A,c.(529-531)Gaa>Aaa,7,841,1,522
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,CEP350,9857,1,179983512,179983512,Nonsense_Mutation,SNP,A,T,c.(1924-1926)Aaa>Taa,27,214,0,155
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,NPL,80896,1,182778412,182778412,Intron,SNP,A,G,,4,59,0,41
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ARID4B,51742,1,235331834,235331834,3'UTR,SNP,C,T,,20,101,0,71
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,RAD51AP2,729475,2,17696774,17696774,Missense_Mutation,SNP,A,G,c.(2908-2910)tTa>tCa,25,71,0,51
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,SNRNP200,23020,2,96949688,96949688,Missense_Mutation,SNP,G,A,c.(4447-4449)Cgg>Tgg,7,594,0,333
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,VIL1,7429,2,219294138,219294138,Missense_Mutation,SNP,G,A,c.(697-699)cGc>cAc,6,367,0,203
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,COL6A3,1293,2,238269800,238269800,Silent,SNP,G,A,c.(6172-6174)gaC>gaT,61,353,1,316
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,MLPH,79083,2,238461080,238461080,Splice_Site,SNP,G,A,c.(1774-1776)gcG>gcA,5,198,0,223
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,SNED1,25992,2,242033839,242033839,3'UTR,SNP,A,C,,28,141,0,102
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ITPR1,3708,3,4856790,4856790,Silent,SNP,C,T,c.(7708-7710)gtC>gtT,5,161,0,39
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,FBLN2,2199,3,13671365,13671365,Missense_Mutation,SNP,C,T,c.(2746-2748)aCg>aTg,82,334,1,250
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,PLXNB1,5364,3,48465677,48465677,Missense_Mutation,SNP,T,A,c.(343-345)cAc>cTc,37,148,0,92
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,DAG1,1605,3,49569910,49569910,Missense_Mutation,SNP,G,A,c.(1966-1968)Gtg>Atg,6,380,0,187
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,NISCH,11188,3,52514192,52514192,Intron,SNP,G,A,,6,307,0,108
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ROBO1,6091,3,78663828,78663828,Missense_Mutation,SNP,C,T,c.(4405-4407)Gga>Aga,5,344,1,135
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,BFSP2,8419,3,133191220,133191220,Missense_Mutation,SNP,C,T,c.(1054-1056)gCc>gTc,18,741,0,320
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ADIPOQ,9370,3,186570970,186570970,Silent,SNP,G,A,c.(121-123)gcG>gcA,33,157,0,86
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZNF595,152687,4,86584,86584,3'UTR,SNP,C,A,,5,308,0,137
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZNF721,170960,4,437393,437393,Missense_Mutation,SNP,A,C,c.(826-828)aTt>aGt,7,277,0,117
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZNF721,170960,4,437396,437396,Missense_Mutation,SNP,T,G,c.(823-825)aAt>aCt,6,283,0,117
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZNF721,170960,4,437401,437401,Silent,SNP,G,C,c.(817-819)gcC>gcG,5,273,0,106
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZBTB49,166793,4,4322397,4322397,Missense_Mutation,SNP,G,A,c.(1651-1653)cGc>cAc,10,468,0,263
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,GABRG1,2565,4,46067401,46067401,Silent,SNP,T,C,c.(520-522)ggA>ggG,14,174,0,111
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,NOA1,84273,4,57843184,57843184,Missense_Mutation,SNP,G,C,c.(568-570)Cgc>Ggc,23,116,0,126
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ADAMTS3,9508,4,73178007,73178007,Splice_Site,SNP,C,T,c.e13+1,6,107,0,47
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,WDFY3,23001,4,85617318,85617318,Silent,SNP,G,A,c.(8704-8706)taC>taT,5,184,1,118
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,COL25A1,84570,4,109745270,109745270,Silent,SNP,C,T,c.(1903-1905)ctG>ctA,6,311,0,185
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,HCN1,348980,5,45396609,45396609,Silent,SNP,C,T,c.(1213-1215)cgG>cgA,82,402,0,304
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,NMUR2,56923,5,151784167,151784167,Missense_Mutation,SNP,C,T,c.(508-510)Gtc>Atc,31,273,0,140
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,SLIT3,6586,5,168149317,168149317,Silent,SNP,G,A,c.(2425-2427)aaC>aaT,6,412,1,147
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,MCUR1,63933,6,13804423,13804423,Intron,SNP,T,C,,3,37,0,26
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,TNXB,7148,6,32041497,32041497,Silent,SNP,T,C,c.(4606-4608)agA>agG,53,247,0,182
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,PTK7,5754,6,43109972,43109972,Missense_Mutation,SNP,G,T,c.(1981-1983)cGc>cTc,5,424,0,265
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,PHF3,23469,6,64423152,64423152,Missense_Mutation,SNP,A,T,c.(5668-5670)Att>Ttt,6,280,0,165
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,RP11-510H23.1,0,6,125232758,125232758,RNA,SNP,A,C,,5,115,1,65
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,AHI1,54806,6,135726106,135726106,Missense_Mutation,SNP,G,A,c.(2971-2973)Cgt>Tgt,4,165,1,68
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,STX11,8676,6,144507976,144507976,Missense_Mutation,SNP,G,A,c.(211-213)cGc>cAc,6,826,0,351
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,MLLT4,4301,6,168319457,168319457,Missense_Mutation,SNP,G,A,c.(2731-2733)Gat>Aat,4,67,0,54
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZNF107,51427,7,64168828,64168828,Missense_Mutation,SNP,T,G,c.(2146-2148)Tca>Gca,7,373,0,152
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZNF107,51427,7,64168829,64168829,Nonsense_Mutation,SNP,C,G,c.(2146-2148)tCa>tGa,6,375,0,153
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,CALCR,799,7,93055822,93055822,Missense_Mutation,SNP,C,T,c.(1270-1272)cGc>cAc,60,306,1,139
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,LRGUK,136332,7,133868553,133868553,Silent,SNP,C,A,c.(1282-1284)Cga>Aga,5,266,0,169
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,XKR9,389668,8,71595750,71595750,Intron,SNP,C,T,,6,228,0,110
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,TMEM67,91147,8,94772156,94772156,Intron,SNP,T,G,,5,76,0,57
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,PKHD1L1,93035,8,110476889,110476889,Missense_Mutation,SNP,G,A,c.(7828-7830)Gaa>Aaa,28,170,0,135
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,NIPSNAP3B,55335,9,107528642,107528642,Missense_Mutation,SNP,G,A,c.(97-99)Gat>Aat,4,123,0,80
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,STXBP1,6812,9,130457365,130457365,IGR,SNP,A,G,,5,287,0,202
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,C9orf117,286207,9,130471808,130471808,Missense_Mutation,SNP,C,T,c.(268-270)aCg>aTg,130,454,0,309
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,COL5A1,1289,9,137716495,137716495,Missense_Mutation,SNP,C,T,c.(4747-4749)aCg>aTg,7,355,0,142
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,TAF3,83860,10,7866405,7866405,Silent,SNP,G,A,c.(289-291)ccG>ccA,5,279,0,174
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,RAB18,22931,10,27830479,27830479,3'UTR,SNP,C,A,,6,329,0,134
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,RAB18,22931,10,27830480,27830480,3'UTR,SNP,T,C,,6,332,0,136
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,LDB3,11155,10,88492293,88492293,Intron,SNP,A,C,,6,287,0,184
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,MUC5AC,4586,11,1155698,1155698,Silent,SNP,C,T,c.(382-384)agC>agT,5,448,0,300
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,DENND5A,23258,11,9225701,9225701,Missense_Mutation,SNP,G,C,c.(454-456)aCc>aGc,5,276,0,156
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,OR5F1,338674,11,55761585,55761585,Missense_Mutation,SNP,C,A,c.(517-519)Gtc>Ttc,29,203,0,145
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,PDE2A,5138,11,72292947,72292947,Silent,SNP,G,A,c.(1894-1896)taC>taT,55,392,0,210
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,APOA4,337,11,116692240,116692240,Silent,SNP,C,T,c.(532-534)tcG>tcA,5,425,0,240
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,PZP,5858,12,9355218,9355218,Silent,SNP,C,T,c.(328-330)acG>acA,43,189,0,186
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,SPATS2,65244,12,49919798,49919798,Silent,SNP,C,T,c.(1396-1398)aaC>aaT,6,247,0,157
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,SLC4A8,9498,12,51890893,51890893,Silent,SNP,G,A,c.(3064-3066)aaG>aaA,5,140,0,115
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,KRT6A,3853,12,52882292,52882292,Missense_Mutation,SNP,C,T,c.(1243-1245)cGt>cAt,22,1090,0,563
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,LRP1,4035,12,57567726,57567726,Silent,SNP,C,T,c.(3508-3510)gaC>gaT,24,632,0,357
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,TBX5,6910,12,114804057,114804057,Missense_Mutation,SNP,C,T,c.(895-897)Ggc>Agc,37,247,1,198
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,MSI1,4440,12,120784110,120784110,Missense_Mutation,SNP,G,A,c.(874-876)aCg>aTg,13,31,0,29
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,P2RX4,5025,12,121666817,121666817,Missense_Mutation,SNP,G,A,c.(799-801)Gcc>Acc,7,585,0,293
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,POLE,5426,12,133202012,133202012,Intron,SNP,C,T,,4,111,0,105
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,OR4K17,390436,14,20585891,20585891,Missense_Mutation,SNP,C,T,c.(325-327)aCc>aTc,4,174,0,113
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,AP4S1,11154,14,31552817,31552817,Intron,SNP,C,T,,5,120,0,83
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,SNORD113-3,767563,14,101396322,101396322,RNA,SNP,G,T,,5,133,0,67
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,CASC4,113201,15,44630034,44630034,Missense_Mutation,SNP,T,C,c.(649-651)aTt>aCt,25,132,0,82
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,HERC1,8925,15,64017683,64017683,Silent,SNP,G,A,c.(3376-3378)Ctg>Ttg,7,209,0,169
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,SPSB3,90864,16,1827824,1827824,Silent,SNP,G,A,c.(643-645)ggC>ggT,71,291,0,187
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,CDH5,1003,16,66434805,66434805,Missense_Mutation,SNP,G,A,c.(1723-1725)Gtg>Atg,8,1314,0,629
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,SF3B3,23450,16,70594435,70594435,Missense_Mutation,SNP,C,T,c.(2074-2076)Cgg>Tgg,6,195,0,172
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,GSE1,23199,16,85694793,85694793,Missense_Mutation,SNP,C,A,c.(1681-1683)cCg>cAg,4,55,0,38
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,TP53,7157,17,7577094,7577094,Missense_Mutation,SNP,G,A,c.(844-846)Cgg>Tgg,122,448,0,458
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,NCOR1,9611,17,16097795,16097795,Missense_Mutation,SNP,G,A,c.(88-90)cCc>cTc,4,164,0,104
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,NAGLU,4669,17,40689410,40689410,Intron,SNP,C,G,,104,457,0,297
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,TMEM259,91304,19,1020824,1020824,Missense_Mutation,SNP,G,A,c.(172-174)Cgg>Tgg,8,16,0,19
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,PLK5,126520,19,1529764,1529764,Missense_Mutation,SNP,G,A,c.(508-510)cGg>cAg,46,231,1,208
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,TJP3,27134,19,3734290,3734290,Intron,SNP,G,C,,20,52,1,38
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,TYK2,7297,19,10475301,10475301,Silent,SNP,G,A,c.(1354-1356)caC>caT,5,257,0,232
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ANO8,57719,19,17444260,17444260,Silent,SNP,G,A,c.(319-321)taC>taT,5,473,0,204
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,NCAN,1463,19,19339041,19339041,Missense_Mutation,SNP,C,T,c.(2611-2613)aCg>aTg,38,160,1,173
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZNF737,100129842,19,20727555,20727555,Missense_Mutation,SNP,C,T,c.(1453-1455)cGa>cAa,7,451,1,218
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZNF430,80264,19,21240264,21240264,Nonsense_Mutation,SNP,C,T,c.(1150-1152)Cga>Tga,5,413,0,215
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZNF708,7562,19,21476519,21476519,Missense_Mutation,SNP,T,C,c.(1249-1251)Aag>Gag,9,241,1,122
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZNF257,113835,19,22271831,22271831,Missense_Mutation,SNP,G,A,c.(1279-1281)Gga>Aga,8,392,1,187
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZNF729,100287226,19,22497712,22497712,Missense_Mutation,SNP,A,G,c.(1492-1494)aAc>aGc,8,631,1,318
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZNF99,7652,19,22939769,22939769,IGR,SNP,C,T,,7,249,0,118
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZNF850,342892,19,37239591,37239591,Missense_Mutation,SNP,A,G,c.(2350-2352)cTc>cCc,6,259,1,122
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZNF850,342892,19,37239593,37239593,Silent,SNP,C,T,c.(2347-2349)aaG>aaA,7,262,1,124
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZNF850,342892,19,37239608,37239608,Silent,SNP,T,A,c.(2332-2334)atA>atT,6,276,1,131
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,FBXO46,23403,19,46215704,46215704,Silent,SNP,C,A,c.(1048-1050)gcG>gcT,34,123,0,102
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,ZNF837,116412,19,58879902,58879902,Silent,SNP,C,G,c.(796-798)ccG>ccC,14,125,1,114
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,CDH22,64405,20,44839049,44839049,Missense_Mutation,SNP,G,A,c.(1183-1185)Cgg>Tgg,4,76,0,55
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,COL20A1,57642,20,61945171,61945171,Silent,SNP,G,A,c.(2284-2286)acG>acA,26,87,0,81
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,MYO18B,84700,22,26423422,26423422,Missense_Mutation,SNP,G,C,c.(7483-7485)aaG>aaC,39,201,0,147
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,NLGN3,54413,X,70373371,70373371,Missense_Mutation,SNP,G,A,c.(562-564)Ggg>Agg,5,367,0,139
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,SLC16A2,6567,X,73751383,73751383,Missense_Mutation,SNP,A,G,c.(1615-1617)Atc>Gtc,12,221,1,129
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,XIAP,331,X,123047301,123047301,3'UTR,SNP,T,C,,5,132,0,56
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,XIAP,331,X,123047306,123047306,3'UTR,SNP,T,C,,6,140,0,57
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,CDR1,1038,X,139865798,139865798,Missense_Mutation,SNP,A,G,c.(733-735)aTt>aCt,4,68,0,34
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,VPS13D,55187,1,12406653,12406654,Intron,INS,-,T,,28,115,,
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,Unknown,0,5,137130844,137130844,IGR,DEL,C,-,,29,171,,
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,P2RX3,5024,11,57115715,57115718,Frame_Shift_Del,DEL,ACGG,-,c.(463-468)acggagfs,28,168,,
RP-1532_PCProject_0100_T1_v4_Exome_OnPrem,GPS2,2874,17,7216980,7216980,Frame_Shift_Del,DEL,G,-,c.(541-543)caafs,23,119,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TP73,7161,1,3643789,3643789,Splice_Site,SNP,G,A,c.e7+1,4,56,0,76
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PADI2,11240,1,17410231,17410231,Missense_Mutation,SNP,C,T,c.(1039-1041)cGc>cAc,4,82,0,123
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SZT2,23334,1,43888177,43888177,Missense_Mutation,SNP,C,T,c.(1795-1797)cCg>cTg,4,78,0,55
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SLC6A9,6536,1,44475773,44475773,Intron,SNP,T,C,,4,69,0,86
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TTC39A,22996,1,51767250,51767250,Nonsense_Mutation,SNP,C,T,c.(1153-1155)tgG>tgA,4,46,0,58
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,LEPR,3953,1,66088619,66088619,Silent,SNP,G,A,c.(2626-2628)ccG>ccA,8,316,0,245
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,RPE65,6121,1,68912521,68912521,Silent,SNP,G,A,c.(115-117)acC>acT,7,227,0,353
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PRKACB,5567,1,84610040,84610040,Intron,SNP,C,T,,4,71,0,89
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,DDX20,11218,1,112309250,112309250,Missense_Mutation,SNP,G,A,c.(2203-2205)cGg>cAg,4,87,0,165
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,APH1A,51107,1,150239885,150239885,Intron,SNP,G,A,,5,84,0,81
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FLG,2312,1,152282534,152282534,Missense_Mutation,SNP,G,A,c.(4828-4830)Cgg>Tgg,5,133,0,298
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SLC39A1,27173,1,153935111,153935111,Silent,SNP,C,T,c.(79-81)ctG>ctA,6,263,0,183
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,GON4L,54856,1,155792141,155792141,Missense_Mutation,SNP,C,T,c.(823-825)cGt>cAt,6,209,0,252
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ILDR2,387597,1,166890317,166890317,Missense_Mutation,SNP,G,A,c.(1510-1512)cCc>cTc,5,118,0,211
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CACNA1E,777,1,181548366,181548366,Intron,SNP,G,T,,4,33,0,60
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CD34,947,1,208061149,208061149,Silent,SNP,G,A,c.(1090-1092)acC>acT,8,327,0,240
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ESRRG,2104,1,216741420,216741420,Missense_Mutation,SNP,G,A,c.(610-612)Cgt>Tgt,6,219,0,223
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,IARS2,55699,1,220315176,220315176,Nonsense_Mutation,SNP,C,T,c.(2446-2448)Cga>Tga,4,73,0,83
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,2-Mar,54996,1,220955234,220955234,Silent,SNP,G,A,c.(997-999)cgG>cgA,5,112,0,82
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SDCCAG8,10806,1,243493967,243493967,Silent,SNP,G,A,c.(1192-1194)acG>acA,8,269,0,212
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,KCNF1,3754,2,11053353,11053353,Silent,SNP,C,T,c.(799-801)taC>taT,6,74,0,155
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MSGN1,343930,2,17998165,17998165,Missense_Mutation,SNP,G,A,c.(379-381)cGg>cAg,4,107,1,197
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FAM179A,165186,2,29259630,29259630,Intron,SNP,G,A,,4,53,0,90
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,BIRC6,57448,2,32733108,32733108,Silent,SNP,C,T,c.(9760-9762)tcC>tcT,5,156,0,166
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,STRN,6801,2,37129842,37129842,Nonsense_Mutation,SNP,G,A,c.(544-546)Cga>Tga,7,176,0,125
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MAP4K3,8491,2,39514090,39514090,Missense_Mutation,SNP,G,A,c.(1489-1491)tCc>tTc,4,107,0,81
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TTC7A,57217,2,47300946,47300946,Missense_Mutation,SNP,G,A,c.(2461-2463)Gag>Aag,8,400,0,325
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TSPYL6,388951,2,54482519,54482519,Missense_Mutation,SNP,C,T,c.(769-771)cGc>cAc,4,84,0,205
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SPTBN1,6711,2,54895678,54895678,Missense_Mutation,SNP,G,A,c.(7066-7068)cGg>cAg,8,388,0,290
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,RTN4,57142,2,55254295,55254295,Missense_Mutation,SNP,C,T,c.(940-942)Gta>Ata,6,147,0,123
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,EXOC6B,23233,2,72723596,72723596,Missense_Mutation,SNP,A,C,c.(1429-1431)aTa>aGa,16,48,0,92
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TANC1,85461,2,160087062,160087062,Missense_Mutation,SNP,G,A,c.(5125-5127)Gtt>Att,5,191,0,233
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,DCAF17,80067,2,172290796,172290796,5'UTR,SNP,C,T,,5,81,0,123
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CCDC141,285025,2,179701998,179701998,Missense_Mutation,SNP,A,C,c.(3946-3948)agT>agG,5,239,0,283
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,KANSL1L,151050,2,211019045,211019045,Missense_Mutation,SNP,T,C,c.(262-264)Aca>Gca,25,56,0,98
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TMEM169,92691,2,216965259,216965259,Silent,SNP,G,A,c.(886-888)acG>acA,6,233,1,315
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,IRS1,3667,2,227662191,227662191,Missense_Mutation,SNP,C,T,c.(1264-1266)Gat>Aat,4,54,0,72
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,KLHL30,377007,2,239056583,239056583,Missense_Mutation,SNP,G,T,c.(1258-1260)tGc>tTc,33,75,0,110
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,GALNT15,117248,3,16242145,16242145,Silent,SNP,C,T,c.(724-726)ctC>ctT,4,21,0,49
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MYRIP,25924,3,40251374,40251374,Silent,SNP,C,T,c.(1693-1695)atC>atT,5,82,0,113
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,VIPR1,7433,3,42573764,42573764,Nonsense_Mutation,SNP,C,T,c.(949-951)Cga>Tga,8,248,0,236
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SCAP,22937,3,47462121,47462121,Nonsense_Mutation,SNP,G,A,c.(1486-1488)Cga>Tga,5,156,0,114
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SCAP,22937,3,47469992,47469992,Intron,SNP,G,A,,17,28,0,78
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,DAG1,1605,3,49570346,49570346,Missense_Mutation,SNP,C,T,c.(2401-2403)gCa>gTa,45,86,0,274
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,BSN,8927,3,49700680,49700680,Missense_Mutation,SNP,C,T,c.(11089-11091)Cct>Tct,5,116,0,216
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,RBM15B,29890,3,51428906,51428906,Missense_Mutation,SNP,C,T,c.(76-78)Cgc>Tgc,5,99,0,73
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ABHD6,57406,3,58256768,58256768,Missense_Mutation,SNP,G,A,c.(499-501)aGc>aAc,4,92,0,109
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PTPRG,5793,3,62189379,62189379,Missense_Mutation,SNP,G,A,c.(1909-1911)gGg>gAg,6,87,0,128
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ROBO2,6092,3,77526693,77526693,Silent,SNP,C,A,c.(517-519)Cga>Aga,53,125,1,243
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,HEG1,57493,3,124738193,124738193,Missense_Mutation,SNP,C,T,c.(1501-1503)Gca>Aca,5,107,0,115
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PLXNA1,5361,3,126735392,126735392,Missense_Mutation,SNP,C,T,c.(3046-3048)cCc>cTc,5,133,0,162
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CP,1356,3,148897432,148897432,Missense_Mutation,SNP,C,T,c.(2572-2574)Gta>Ata,5,180,0,138
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,DVL3,1857,3,183882359,183882359,Missense_Mutation,SNP,C,T,c.(433-435)Cgg>Tgg,3,11,0,29
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ATP13A3,79572,3,194219513,194219513,5'Flank,SNP,C,T,,5,61,1,44
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ZNF732,654254,4,265165,265165,Missense_Mutation,SNP,G,A,c.(1480-1482)aCa>aTa,5,127,0,137
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MFSD7,84179,4,678508,678508,Splice_Site,SNP,C,T,c.(721-723)ctG>ctA,3,28,0,85
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TMEM175,84286,4,950316,950316,Intron,SNP,C,T,,4,55,0,118
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,APBB2,323,4,40892421,40892421,Missense_Mutation,SNP,C,T,c.(1486-1488)Gtc>Atc,7,163,0,162
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ARL9,132946,4,57385008,57385008,Missense_Mutation,SNP,G,A,c.(181-183)Gca>Aca,6,59,0,108
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ART3,419,4,77003331,77003331,Missense_Mutation,SNP,C,T,c.(424-426)Ctc>Ttc,4,94,0,159
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PPP3CA,5530,4,102001723,102001723,Silent,SNP,T,C,c.(919-921)tcA>tcG,19,42,0,43
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,NDST3,9348,4,118975070,118975070,Missense_Mutation,SNP,G,A,c.(4-6)aGt>aAt,3,11,0,38
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FREM3,166752,4,144621037,144621037,Silent,SNP,G,A,c.(790-792)taC>taT,6,131,0,127
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ZNF827,152485,4,146823931,146823931,Silent,SNP,G,A,c.(478-480)tcC>tcT,4,98,0,179
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TRIP13,9319,5,908488,908488,Missense_Mutation,SNP,G,A,c.(778-780)Gcc>Acc,5,193,1,156
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CTNND2,1501,5,11117590,11117590,Missense_Mutation,SNP,G,A,c.(2248-2250)gCg>gTg,6,178,0,227
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PRKAA1,5562,5,40764853,40764853,Splice_Site,SNP,C,T,c.e7+1,3,7,0,36
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MCC,4163,5,112363041,112363041,Silent,SNP,C,T,c.(2446-2448)gaG>gaA,4,102,0,140
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,BRD8,10902,5,137500664,137500664,Silent,SNP,C,T,c.(1468-1470)acG>acA,4,117,0,244
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SLC36A2,153201,5,150696383,150696383,Missense_Mutation,SNP,G,A,c.(1447-1449)Cgg>Tgg,6,217,0,224
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,C5orf54,0,5,159821107,159821107,Missense_Mutation,SNP,A,G,c.(1390-1392)aTt>aCt,13,38,0,82
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FOXI1,2299,5,169533535,169533535,Splice_Site,SNP,G,A,c.(574-576)Ggc>Agc,6,209,0,322
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,LMAN2,10960,5,176764515,176764515,Missense_Mutation,SNP,G,A,c.(523-525)cCg>cTg,5,126,0,160
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FAM153A,285596,5,177158565,177158565,Intron,SNP,C,T,,4,74,0,113
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,RMND5B,64777,5,177574628,177574628,Missense_Mutation,SNP,G,A,c.(955-957)Gag>Aag,6,159,0,170
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ADAMTS2,9509,5,178563050,178563050,Intron,SNP,G,A,,6,176,0,320
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,RP3-416J7.4,0,6,203494,203494,lincRNA,SNP,C,A,,51,83,0,155
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FOXQ1,94234,6,1313264,1313264,Missense_Mutation,SNP,G,A,c.(325-327)Gca>Aca,4,26,0,75
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,DTNBP1,84062,6,15663118,15663118,5'UTR,SNP,T,C,,9,515,0,412
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,RNF39,80352,6,30038821,30038821,3'UTR,SNP,G,A,,4,30,0,89
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,AGER,177,6,32151448,32151448,Missense_Mutation,SNP,G,A,c.(238-240)cCc>cTc,6,194,0,304
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TCP11,6954,6,35109066,35109066,5'Flank,SNP,G,A,,3,18,0,24
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SCUBE3,222663,6,35201078,35201078,Splice_Site,SNP,G,A,c.(712-714)Gag>Aag,5,98,0,110
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,AARS2,57505,6,44270597,44270597,Missense_Mutation,SNP,C,T,c.(2305-2307)cGc>cAc,6,203,0,342
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MLIP,90523,6,54001977,54001977,Intron,SNP,G,A,,6,197,0,229
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,COL9A1,1297,6,70992742,70992742,Intron,SNP,G,A,,5,88,0,169
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MTO1,25821,6,74190017,74190017,Splice_Site,SNP,C,T,c.(1129-1131)gaC>gaT,6,198,0,168
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,DLL1,28514,6,170592463,170592463,Missense_Mutation,SNP,C,T,c.(1903-1905)cGc>cAc,6,231,0,314
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TBP,6908,6,170873702,170873702,Silent,SNP,C,T,c.(565-567)aaC>aaT,5,183,0,136
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,INTS1,26173,7,1532645,1532645,Splice_Site,SNP,C,T,c.e16+1,5,89,0,120
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TNRC18,84629,7,5360736,5360736,Silent,SNP,G,A,c.(6526-6528)gcC>gcT,4,92,0,91
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,C7orf26,79034,7,6631447,6631447,Silent,SNP,G,A,c.(361-363)gcG>gcA,6,151,0,146
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,GLCCI1,113263,7,8126036,8126036,Silent,SNP,G,A,c.(1510-1512)acG>acA,6,218,0,247
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,AGR2,10551,7,16834490,16834490,Intron,SNP,C,T,,4,49,0,88
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,AGR3,155465,7,16900997,16900997,Intron,SNP,C,T,,4,47,0,50
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,IGF2BP3,10643,7,23509694,23509694,Silent,SNP,G,A,c.(34-36)aaC>aaT,6,79,0,82
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CRHR2,1395,7,30721797,30721797,Missense_Mutation,SNP,C,T,c.(100-102)Gag>Aag,5,70,0,116
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,KBTBD2,25948,7,32919046,32919046,Splice_Site,SNP,C,T,c.e2+1,4,47,0,64
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ADCY1,107,7,45725798,45725798,Missense_Mutation,SNP,G,A,c.(2311-2313)Gga>Aga,6,61,0,82
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TNS3,64759,7,47332449,47332449,Missense_Mutation,SNP,C,T,c.(3826-3828)tGc>tAc,5,170,0,141
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CLIP2,7461,7,73770735,73770735,Intron,SNP,C,T,,4,71,0,174
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,POR,5447,7,75614941,75614941,Silent,SNP,C,T,c.(1441-1443)taC>taT,4,37,0,72
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PILRA,29992,7,99987501,99987501,Intron,SNP,C,T,,5,68,1,129
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,KIAA1549,57670,7,138546077,138546077,Silent,SNP,C,T,c.(5053-5055)caG>caA,4,27,0,101
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ASIC3,9311,7,150749683,150749683,Missense_Mutation,SNP,G,A,c.(1540-1542)Gtc>Atc,4,85,0,96
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,RBM33,155435,7,155534734,155534734,Silent,SNP,G,A,c.(2269-2271)acG>acA,8,240,0,209
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ZDHHC2,51201,8,17072750,17072750,Missense_Mutation,SNP,G,A,c.(955-957)Gaa>Aaa,5,61,0,163
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TMEM66,0,8,29927249,29927249,Silent,SNP,C,T,c.(607-609)ccG>ccA,6,148,0,190
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PURG,29942,8,30889409,30889409,Missense_Mutation,SNP,C,T,c.(889-891)cGt>cAt,5,105,0,147
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SNAI2,6591,8,49832752,49832752,Missense_Mutation,SNP,C,T,c.(328-330)Gag>Aag,31,306,0,168
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PXDNL,137902,8,52339265,52339265,Missense_Mutation,SNP,T,A,c.(1579-1581)Aat>Tat,6,158,0,72
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,C8orf44,56260,8,67590164,67590164,Missense_Mutation,SNP,T,C,c.(220-222)tTt>tCt,3,9,0,22
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SLC7A13,157724,8,87227807,87227807,Intron,SNP,T,C,,4,50,1,61
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,COL14A1,7373,8,121262977,121262977,Silent,SNP,C,T,c.(2722-2724)agC>agT,6,169,0,213
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ZHX2,22882,8,123965860,123965860,Missense_Mutation,SNP,G,A,c.(2110-2112)Ggc>Agc,5,128,1,144
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,OC90,729330,8,133053800,133053800,Nonsense_Mutation,SNP,C,A,c.(316-318)Gaa>Taa,23,32,0,80
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,OR13J1,392309,9,35869739,35869739,Silent,SNP,G,T,c.(658-660)ctC>ctA,50,109,0,244
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FAM120A,23196,9,96259789,96259789,Missense_Mutation,SNP,G,A,c.(841-843)Gta>Ata,5,200,0,220
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ZER1,10444,9,131515125,131515125,Silent,SNP,G,A,c.(748-750)caC>caT,5,62,0,64
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TSC1,7248,9,135796795,135796795,Missense_Mutation,SNP,G,A,c.(691-693)cCg>cTg,8,457,0,378
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,OLFM1,10439,9,137967906,137967906,Missense_Mutation,SNP,T,C,c.(100-102)Tcc>Ccc,4,1,0,13
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PARD3,56288,10,34626307,34626307,Missense_Mutation,SNP,C,A,c.(2464-2466)gGa>gTa,7,172,0,114
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CCNYL2,414194,10,42920779,42920779,RNA,SNP,G,A,,3,13,0,23
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CHAT,1103,10,50827821,50827821,Silent,SNP,C,T,c.(436-438)taC>taT,7,257,0,470
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,VPS26A,9559,10,70917845,70917845,Silent,SNP,G,A,c.(427-429)ttG>ttA,4,75,0,63
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SLC29A3,55315,10,73122090,73122090,Missense_Mutation,SNP,C,T,c.(1153-1155)Ctc>Ttc,4,46,0,166
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,IDE,3416,10,94234712,94234712,Nonsense_Mutation,SNP,G,A,c.(2002-2004)Cga>Tga,5,153,0,114
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CALHM1,255022,10,105218055,105218055,Missense_Mutation,SNP,G,C,c.(454-456)Ctc>Gtc,51,104,0,235
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ADRA2A,150,10,112839086,112839086,Silent,SNP,C,T,c.(1330-1332)ttC>ttT,8,233,0,207
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,KNDC1,85442,10,135020649,135020649,Silent,SNP,C,T,c.(3586-3588)taC>taT,6,156,0,246
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PIDD,0,11,801809,801809,Intron,SNP,G,A,,4,59,0,87
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,AC051649.6,0,11,2017585,2017585,lincRNA,SNP,G,A,,5,135,0,186
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,KCNQ1,3784,11,2870284,2870284,3'UTR,SNP,G,A,,4,63,0,164
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TRIM3,10612,11,6478522,6478522,Intron,SNP,A,C,,18,32,0,74
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ZNF143,7702,11,9517932,9517932,Intron,SNP,G,A,,5,114,1,93
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ARHGAP1,392,11,46699414,46699414,3'UTR,SNP,T,C,,4,45,1,65
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MS4A13,503497,11,60285662,60285662,Missense_Mutation,SNP,G,A,c.(106-108)Gga>Aga,4,54,0,64
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,RCOR2,283248,11,63681609,63681609,Silent,SNP,T,C,c.(706-708)ccA>ccG,8,102,0,269
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ATG2A,23130,11,64678499,64678499,Intron,SNP,C,T,,7,352,0,490
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,UNC93B1,81622,11,67771195,67771195,Missense_Mutation,SNP,C,T,c.(169-171)cGc>cAc,5,242,0,279
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,NUMA1,4926,11,71730535,71730535,Intron,SNP,C,T,,5,74,0,95
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,DYNC2H1,79659,11,103006533,103006533,Silent,SNP,A,G,c.(2428-2430)ccA>ccG,20,117,0,116
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,DYNC2H1,79659,11,103006558,103006558,Missense_Mutation,SNP,G,A,c.(2455-2457)Gca>Aca,21,118,0,108
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,BCL9L,283149,11,118770101,118770101,Silent,SNP,G,A,c.(3523-3525)Ctg>Ttg,5,142,0,152
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,AP000679.2,0,11,120040641,120040641,Missense_Mutation,SNP,G,A,c.(124-126)Gca>Aca,5,177,0,167
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,NANOGNB,360030,12,7917905,7917905,Silent,SNP,G,A,c.(22-24)acG>acA,4,84,0,84
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PIK3C2G,5288,12,18534803,18534803,Missense_Mutation,SNP,G,A,c.(1861-1863)Gtg>Atg,4,87,1,98
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,Unknown,0,12,19873621,19873621,IGR,SNP,A,G,,6,136,0,132
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ITPR2,3709,12,26839414,26839414,Splice_Site,SNP,C,T,c.(1147-1149)aGg>aAg,4,40,0,66
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FAM186A,121006,12,50727838,50727838,Silent,SNP,G,T,c.(6550-6552)ggC>ggA,4,102,1,138
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FAM186A,121006,12,50749300,50749300,Missense_Mutation,SNP,C,T,c.(1315-1317)Gta>Ata,6,106,0,124
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,DGKA,1606,12,56334762,56334762,Missense_Mutation,SNP,C,T,c.(1099-1101)Cgg>Tgg,5,88,0,103
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MYO1A,4640,12,57437989,57437989,Silent,SNP,G,A,c.(643-645)gcC>gcT,13,182,0,349
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TMCC3,57458,12,94975610,94975610,Silent,SNP,C,T,c.(781-783)acG>acA,5,75,0,124
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,UTP20,27340,12,101706015,101706015,Missense_Mutation,SNP,G,A,c.(2512-2514)cGg>cAg,4,102,0,162
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ACACB,32,12,109629563,109629563,Missense_Mutation,SNP,G,A,c.(2290-2292)Gtg>Atg,4,66,0,138
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,HVCN1,84329,12,111086881,111086881,3'UTR,SNP,G,A,,6,122,0,118
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SDSL,113675,12,113863622,113863622,Intron,SNP,G,A,,6,27,0,56
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SDSL,113675,12,113863630,113863630,Intron,SNP,A,T,,4,19,0,51
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TAOK3,51347,12,118588966,118588966,Intron,SNP,G,A,,4,47,0,55
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TMEM132D,121256,12,129566484,129566484,Silent,SNP,C,T,c.(1741-1743)acG>acA,52,143,0,311
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MYCBP2,23077,13,77748435,77748435,Intron,SNP,C,T,,4,33,0,67
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SLITRK5,26050,13,88330173,88330173,Silent,SNP,C,T,c.(2530-2532)Ctg>Ttg,4,84,0,143
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ATP11A,23250,13,113527942,113527942,Missense_Mutation,SNP,C,T,c.(3112-3114)tCg>tTg,4,64,0,75
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MIA2,117153,14,39706376,39706376,Intron,SNP,A,G,,4,66,0,60
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FAM179B,23116,14,45515855,45515855,Intron,SNP,G,A,,3,16,0,8
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FKBP3,2287,14,45602564,45602564,Intron,SNP,A,G,,5,81,0,31
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ACTR10,55860,14,58701163,58701163,Missense_Mutation,SNP,G,A,c.(1147-1149)cGt>cAt,4,96,0,96
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,DACT1,51339,14,59112941,59112941,Missense_Mutation,SNP,G,A,c.(1600-1602)Gag>Aag,6,178,0,246
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SPTB,6710,14,65258568,65258568,Silent,SNP,G,A,c.(2671-2673)gaC>gaT,5,130,0,258
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MAP3K9,4293,14,71197215,71197215,Missense_Mutation,SNP,G,A,c.(3196-3198)aCg>aTg,8,435,0,357
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,Unknown,0,14,73079227,73079227,IGR,SNP,T,C,,38,125,0,200
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ABCD4,5826,14,74759348,74759348,Intron,SNP,G,A,,4,101,0,206
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,NRXN3,9369,14,79433746,79433746,Intron,SNP,A,C,,16,34,1,82
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,hsa-mir-7162,0,15,62540741,62540741,RNA,SNP,C,T,,4,55,0,83
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MAN2C1,4123,15,75653496,75653496,Missense_Mutation,SNP,G,A,c.(1351-1353)Cgg>Tgg,5,77,0,119
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CTD-2054N24.2,0,15,100353197,100353197,Missense_Mutation,SNP,T,G,c.(151-153)aTg>aGg,7,273,1,243
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CRAMP1L,57585,16,1709917,1709917,Missense_Mutation,SNP,T,G,c.(2266-2268)Tca>Gca,65,125,0,222
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PKD1,5310,16,2164451,2164451,Missense_Mutation,SNP,G,A,c.(2572-2574)aCg>aTg,5,156,0,213
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SLX4,84464,16,3639840,3639840,Missense_Mutation,SNP,G,A,c.(3799-3801)Cgt>Tgt,6,207,1,240
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,C16orf96,342346,16,4642369,4642369,Splice_Site,SNP,G,A,c.e11+1,7,133,0,188
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,RBFOX1,54715,16,6367048,6367048,5'UTR,SNP,C,A,,28,85,0,127
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CIITA,4261,16,11001727,11001727,Missense_Mutation,SNP,T,C,c.(2377-2379)cTg>cCg,2,0,0,36
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,GP2,2813,16,20335536,20335536,Missense_Mutation,SNP,A,G,c.(136-138)cTg>cCg,16,18,0,100
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CD19,930,16,28944321,28944321,Missense_Mutation,SNP,G,A,c.(445-447)Ggg>Agg,6,161,0,359
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FAM57B,83723,16,30041381,30041381,Intron,SNP,C,A,,46,124,1,215
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ZNF646,9726,16,31089882,31089882,Missense_Mutation,SNP,C,T,c.(2236-2238)aCc>aTc,4,16,0,28
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ZNF646,9726,16,31090103,31090103,Missense_Mutation,SNP,G,A,c.(2458-2460)Gct>Act,4,57,1,114
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PRSS53,339105,16,31100066,31100066,Intron,SNP,G,A,,40,84,0,165
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ORC6,23594,16,46731856,46731856,3'UTR,SNP,A,G,,5,15,0,42
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CCL22,6367,16,57392813,57392813,Intron,SNP,G,A,,5,168,0,157
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,GPR114,221188,16,57601782,57601782,Missense_Mutation,SNP,C,T,c.(835-837)tCc>tTc,4,54,0,133
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CDH16,1014,16,66946746,66946746,Missense_Mutation,SNP,G,A,c.(1102-1104)tCc>tTc,4,72,0,154
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FHOD1,29109,16,67264284,67264284,Missense_Mutation,SNP,A,G,c.(2983-2985)cTa>cCa,68,142,0,214
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,VAC14,55697,16,70820129,70820129,Missense_Mutation,SNP,C,T,c.(244-246)Gca>Aca,5,73,0,57
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ZFHX3,463,16,72923738,72923738,Nonsense_Mutation,SNP,G,A,c.(3340-3342)Cga>Tga,6,359,0,306
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ZNF469,84627,16,88504534,88504534,Silent,SNP,G,A,c.(10570-10572)ccG>ccA,6,74,1,98
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SPG7,6687,16,89579417,89579417,Silent,SNP,G,A,c.(346-348)tcG>tcA,9,255,0,230
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,DNAH2,146754,17,7733772,7733772,Nonsense_Mutation,SNP,G,A,c.(12007-12009)tGg>tAg,4,86,0,86
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CHD3,1107,17,7788228,7788228,Missense_Mutation,SNP,A,T,c.(103-105)gAg>gTg,6,157,0,68
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ALOX12B,242,17,7976271,7976271,Intron,SNP,G,A,,7,15,0,58
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,COPS3,8533,17,17174228,17174228,Nonsense_Mutation,SNP,G,A,c.(280-282)Cga>Tga,6,202,0,205
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MYO15A,51168,17,18023110,18023110,Silent,SNP,C,T,c.(994-996)taC>taT,5,102,0,210
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TMEM132E,124842,17,32959807,32959807,Missense_Mutation,SNP,G,A,c.(1297-1299)Gtc>Atc,5,241,0,381
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PLXDC1,57125,17,37265596,37265596,Missense_Mutation,SNP,G,A,c.(304-306)Ccc>Tcc,4,116,0,178
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,KRT15,3866,17,39673065,39673065,Missense_Mutation,SNP,C,T,c.(733-735)Gaa>Aaa,4,49,0,123
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,KRT9,3857,17,39727819,39727819,Silent,SNP,T,A,c.(424-426)ggA>ggT,7,97,0,121
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,KAT2A,2648,17,40271288,40271288,Missense_Mutation,SNP,T,G,c.(1048-1050)Acc>Ccc,20,34,0,47
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SPOP,8405,17,47696432,47696432,Missense_Mutation,SNP,A,C,c.(391-393)Tgg>Ggg,36,60,0,83
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CA10,56934,17,49710939,49710939,Missense_Mutation,SNP,G,A,c.(862-864)Cct>Tct,48,106,0,131
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,BZRAP1,9256,17,56382975,56382975,Missense_Mutation,SNP,G,T,c.(5287-5289)Ctg>Atg,2,0,0,17
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TBX2,6909,17,59480449,59480449,Nonsense_Mutation,SNP,C,T,c.(691-693)Cag>Tag,5,106,0,121
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FAM195B,348262,17,79783856,79783856,5'UTR,SNP,C,T,,4,97,0,129
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,METRNL,284207,17,81043016,81043016,Missense_Mutation,SNP,G,A,c.(373-375)Gga>Aga,4,72,0,88
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ASXL3,80816,18,31323401,31323401,Missense_Mutation,SNP,G,T,c.(3589-3591)Gac>Tac,26,70,0,127
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ZBTB7C,201501,18,45567077,45567077,Silent,SNP,C,T,c.(400-402)ggG>ggA,4,67,0,76
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ZNF236,7776,18,74640002,74640002,Missense_Mutation,SNP,G,A,c.(4528-4530)Gct>Act,5,181,0,199
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CTDP1,9150,18,77439422,77439422,5'Flank,SNP,C,T,,39,85,0,169
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CTDP1,9150,18,77439490,77439490,5'Flank,SNP,G,A,,7,242,0,292
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SHC2,25759,19,422352,422352,Missense_Mutation,SNP,G,A,c.(1414-1416)Cgg>Tgg,4,70,0,134
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CFD,1675,19,861883,861883,Missense_Mutation,SNP,G,A,c.(541-543)cGg>cAg,7,335,0,317
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ABCA7,10347,19,1047661,1047661,Intron,SNP,G,A,,4,59,0,109
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,NDUFS7,374291,19,1388971,1388971,Intron,SNP,G,A,,4,90,0,152
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ZNF77,58492,19,2934636,2934636,Silent,SNP,C,T,c.(487-489)ccG>ccA,4,65,0,98
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CATSPERD,257062,19,5772262,5772262,Intron,SNP,A,G,,3,18,0,42
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,GTF2F1,2962,19,6381210,6381210,Intron,SNP,C,T,,4,87,1,107
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ICAM3,3385,19,10445767,10445767,Silent,SNP,C,T,c.(910-912)gaG>gaA,4,106,0,168
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CALR,811,19,13054435,13054435,Missense_Mutation,SNP,G,A,c.(1045-1047)Gta>Ata,5,105,0,128
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,NFIX,4784,19,13135973,13135973,Missense_Mutation,SNP,G,A,c.(166-168)Gtg>Atg,10,590,0,427
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ZNF91,7644,19,23542249,23542249,Missense_Mutation,SNP,T,A,c.(3532-3534)Atg>Ttg,6,44,0,50
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SIRT2,22933,19,39384209,39384209,Intron,SNP,G,A,,9,24,0,57
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FCGBP,8857,19,40368886,40368886,Intron,SNP,G,A,,6,180,0,430
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,BLVRB,645,19,40964145,40964145,Missense_Mutation,SNP,G,A,c.(250-252)aCg>aTg,6,111,0,127
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ERF,2077,19,42753170,42753170,Missense_Mutation,SNP,G,A,c.(1093-1095)tCg>tTg,5,101,0,128
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CEACAM1,634,19,43020933,43020933,Intron,SNP,T,C,,5,52,0,55
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SRRM5,100170229,19,44117841,44117841,Missense_Mutation,SNP,G,A,c.(1567-1569)cGa>cAa,8,396,0,406
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,DMPK,1760,19,46283580,46283580,Intron,SNP,C,T,,4,52,0,38
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PPFIA3,8541,19,49637406,49637406,Missense_Mutation,SNP,G,A,c.(1360-1362)gGg>gAg,6,96,0,108
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TMEM86B,255043,19,55738567,55738567,Silent,SNP,C,T,c.(661-663)ccG>ccA,3,10,0,19
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FAM71E2,284418,19,55871076,55871076,Missense_Mutation,SNP,G,A,c.(1159-1161)cCt>cTt,4,72,0,132
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ZNF787,126208,19,56600253,56600253,Silent,SNP,G,A,c.(286-288)tgC>tgT,5,86,0,129
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MZF1,7593,19,59074612,59074612,Silent,SNP,G,A,c.(1030-1032)ggC>ggT,5,82,0,126
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TGM3,7053,20,2291762,2291762,Nonsense_Mutation,SNP,G,A,c.(526-528)tGg>tAg,5,136,0,139
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,DDRGK1,65992,20,3171394,3171394,Nonsense_Mutation,SNP,G,A,c.(850-852)Cga>Tga,5,231,0,191
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SIGLEC1,6614,20,3687146,3687146,Missense_Mutation,SNP,C,T,c.(256-258)cGc>cAc,6,180,0,289
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PAK7,57144,20,9560970,9560970,Missense_Mutation,SNP,G,A,c.(811-813)tCg>tTg,6,155,0,189
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PAX1,5075,20,21689988,21689988,Silent,SNP,G,A,c.(1186-1188)gcG>gcA,5,171,0,243
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FOXA2,3170,20,22562521,22562521,Silent,SNP,C,T,c.(1339-1341)ggG>ggA,4,38,0,62
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,RBM39,9584,20,34302136,34302136,Missense_Mutation,SNP,C,T,c.(1066-1068)cGt>cAt,5,173,0,195
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,DNTTIP1,116092,20,44423978,44423978,Intron,SNP,C,T,,4,66,0,72
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FAM65C,140876,20,49214155,49214155,Silent,SNP,C,T,c.(1738-1740)ctG>ctA,5,148,0,212
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ADNP,23394,20,49508107,49508107,Silent,SNP,C,T,c.(3142-3144)aaG>aaA,4,76,0,110
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TFAP2C,7022,20,55206428,55206428,Silent,SNP,G,A,c.(214-216)tcG>tcA,4,72,0,75
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,OPRL1,4987,20,62729714,62729714,Silent,SNP,C,T,c.(673-675)atC>atT,7,200,0,209
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,DSCAM,1826,21,41559921,41559921,Intron,SNP,G,A,,4,38,0,74
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,LSS,4047,21,47636416,47636416,Missense_Mutation,SNP,C,T,c.(670-672)Gca>Aca,4,59,0,70
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,RAB36,9609,22,23504895,23504895,3'UTR,SNP,C,T,,6,137,0,167
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MYO18B,84700,22,26193940,26193940,Silent,SNP,G,A,c.(2395-2397)gcG>gcA,5,197,0,241
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ZMAT5,55954,22,30136634,30136634,Intron,SNP,C,T,,4,85,0,89
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,DEPDC5,9681,22,32215031,32215031,Missense_Mutation,SNP,C,T,c.(1690-1692)Cca>Tca,6,198,0,286
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MYH9,4627,22,36714279,36714279,Silent,SNP,G,A,c.(1198-1200)taC>taT,7,312,0,383
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SCUBE1,80274,22,43616568,43616568,Silent,SNP,G,A,c.(1573-1575)acC>acT,4,61,0,104
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FBLN1,2192,22,45923843,45923843,Missense_Mutation,SNP,G,C,c.(436-438)aaG>aaC,83,172,0,382
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CELSR1,9620,22,46762351,46762351,Silent,SNP,G,A,c.(8230-8232)ttC>ttT,7,284,0,207
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CXorf23,256643,X,19948752,19948752,Intron,SNP,T,C,,4,56,0,39
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SLC35A2,7355,X,48760712,48760712,3'UTR,SNP,C,T,,4,102,0,109
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CCNB3,85417,X,50056949,50056949,Splice_Site,SNP,G,A,c.e8+1,4,55,0,67
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,RAB40AL,282808,X,102192847,102192847,Missense_Mutation,SNP,G,A,c.(601-603)Gtg>Atg,5,92,0,169
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,IDH3G,3421,X,153054570,153054570,Intron,SNP,C,T,,5,71,1,82
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,NAA10,8260,X,153196242,153196242,Missense_Mutation,SNP,G,A,c.(445-447)Cgg>Tgg,7,231,0,203
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,HCFC1,3054,X,153227093,153227093,Silent,SNP,G,A,c.(802-804)taC>taT,4,100,0,83
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SYPL2,284612,1,110019725,110019725,Intron,DEL,T,-,,0,0,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,RORC,6097,1,151804006,151804007,Intron,INS,-,GC,,0,1,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,OPTC,26254,1,203469109,203469111,Intron,DEL,CAT,-,,4,4,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,WDR33,55339,2,128479682,128479686,Intron,DEL,TTTAC,-,,2,1,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,GALNT13,114805,2,155157950,155157952,In_Frame_Del,DEL,TTG,-,c.(1003-1008)attgtt>att,25,53,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,GOLGB1,2804,3,121441075,121441076,Intron,INS,-,T,,6,38,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,GPR98,84059,5,90106267,90106267,Frame_Shift_Del,DEL,T,-,c.(15190-15192)tttfs,30,86,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CPA1,1357,7,130027640,130027640,Intron,DEL,C,-,,3,12,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TBXAS1,6916,7,139717654,139717659,Intron,DEL,GGCAGG,-,,3,57,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ABCF2,10061,7,150916068,150916069,Intron,INS,-,G,,2,19,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,NRG1,3084,8,32607160,32607160,Intron,DEL,T,-,,3,17,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,RAB11FIP1,80223,8,37728780,37728781,Intron,INS,-,T,,3,7,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,EFCAB1,79645,8,49643893,49643896,Intron,DEL,TGTG,-,,33,25,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,C9orf72,203228,9,27548374,27548391,In_Frame_Del,DEL,CTATCTTCAGGTTCCGAA,-,c.(1288-1308)cttcggaacctgaagatagac>cac,4,101,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CNTRL,11064,9,123912482,123912482,Frame_Shift_Del,DEL,T,-,c.(3682-3684)agtfs,3,31,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ARHGAP22,58504,10,49654432,49654432,3'UTR,DEL,T,-,,10,25,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SLIT1,6585,10,98824545,98824549,Intron,DEL,TTCCA,-,,3,48,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SPI1,6688,11,47380066,47380067,Intron,DEL,GC,-,,7,1,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,NRXN2,9379,11,64419696,64419697,Intron,DEL,GA,-,,7,16,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PAN2,9924,12,56716743,56716744,Intron,INS,-,T,,5,9,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,LTA4H,4048,12,96394929,96394933,Intron,DEL,GACAG,-,,3,38,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,TRPV4,59341,12,110231516,110231517,Intron,INS,-,A,,3,12,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,ARPC3,10094,12,110890963,110890963,5'Flank,DEL,G,-,,5,6,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FOXA1,3169,14,38060542,38060543,3'UTR,INS,-,AG,,152,375,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,CTD-2555A7.2,0,16,89119193,89119198,lincRNA,DEL,TATTCT,-,,5,106,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,PELP1,27043,17,4576243,4576244,Frame_Shift_Ins,INS,-,CC,c.(2041-2043)ggcfs,7,6,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SDK2,54549,17,71640279,71640280,5'Flank,INS,-,G,,3,23,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,C1QTNF1,114897,17,77039283,77039284,Intron,INS,-,AGCA,,4,20,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,FBN3,84467,19,8165951,8165953,Intron,DEL,CCT,-,,3,3,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,RFX1,5989,19,14074644,14074648,Intron,DEL,CCCGC,-,,3,23,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,RFXANK,8625,19,19308796,19308796,Intron,DEL,G,-,,1,19,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,MAP4K1,11184,19,39100259,39100267,In_Frame_Del,DEL,CCCAGAGAG,-,c.(973-984)agctctctgggg>agg,11,63,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,Unknown,0,19,55208922,55208923,IGR,INS,-,GCC,,4,10,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,SSC5D,284297,19,56029967,56029968,Frame_Shift_Ins,INS,-,A,c.(4324-4326)cttfs,0,7,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,EFCAB8,388795,20,31484388,31484389,Intron,INS,-,A,,3,15,,
RP-1532_PCProject_0120_T2_v4_Exome_OnPrem,B3GALT5,10317,21,40981697,40981698,Intron,INS,-,T,,2,14,,
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ACTRT2,140625,1,2939184,2939184,Missense_Mutation,SNP,G,A,c.(934-936)Gat>Aat,50,456,0,164
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CASZ1,54897,1,10713926,10713926,Missense_Mutation,SNP,C,T,c.(2188-2190)Gcc>Acc,5,266,1,58
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,NBPF1,55672,1,16892712,16892712,Intron,SNP,A,G,,11,2356,1,1554
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SFN,2810,1,27189948,27189948,Missense_Mutation,SNP,G,A,c.(244-246)cGt>cAt,6,456,0,103
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PTP4A2,8073,1,32379898,32379898,Intron,SNP,A,C,,8,389,0,113
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ALG14,199857,1,95448743,95448743,Silent,SNP,C,T,c.(538-540)acG>acA,6,463,0,196
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,KIAA1324,57535,1,109704542,109704542,Silent,SNP,G,A,c.(178-180)gcG>gcA,6,371,0,76
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RIT1,6016,1,155874218,155874218,Missense_Mutation,SNP,G,A,c.(313-315)Cgt>Tgt,4,111,0,51
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,DUSP27,92235,1,167083011,167083011,Missense_Mutation,SNP,G,A,c.(175-177)Gcc>Acc,6,290,0,97
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RGS16,6004,1,182569528,182569528,Missense_Mutation,SNP,G,A,c.(508-510)Cgc>Tgc,9,1502,0,276
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,F13B,2165,1,197021848,197021848,Missense_Mutation,SNP,C,T,c.(1471-1473)Gac>Aac,12,228,0,102
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CAMSAP2,23271,1,200822596,200822596,Missense_Mutation,SNP,C,A,c.(3829-3831)Ccc>Acc,7,118,0,69
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,NFASC,23114,1,204943366,204943366,Missense_Mutation,SNP,C,T,c.(1339-1341)Cgg>Tgg,36,401,1,121
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,FAIM3,9214,1,207094684,207094684,Intron,SNP,A,G,,5,111,0,26
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,C4BPB,725,1,207268762,207268762,Intron,SNP,A,G,,7,239,1,71
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CAPN8,388743,1,223853102,223853102,Intron,SNP,G,A,,4,65,0,41
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,OBSCN,84033,1,228547974,228547974,Intron,SNP,G,A,,8,1254,0,294
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,C1orf198,84886,1,230979191,230979191,Missense_Mutation,SNP,G,A,c.(835-837)gCc>gTc,6,451,0,93
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PXDN,7837,2,1657520,1657520,Missense_Mutation,SNP,G,A,c.(1984-1986)Cgg>Tgg,5,154,0,102
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RRM2,6241,2,10269367,10269367,Missense_Mutation,SNP,A,G,c.(1024-1026)Aga>Gga,4,64,0,31
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ASXL2,55252,2,25965359,25965359,Missense_Mutation,SNP,G,A,c.(3847-3849)Cgt>Tgt,6,495,1,112
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,AAK1,22848,2,69741780,69741780,Missense_Mutation,SNP,C,G,c.(1597-1599)caG>caC,8,570,1,121
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ALMS1,7840,2,73613056,73613056,Silent,SNP,G,A,c.(58-60)gaG>gaA,6,371,0,74
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RFX8,731220,2,102034146,102034146,Splice_Site,SNP,C,T,c.(691-693)Gga>Aga,14,57,0,32
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PSD4,23550,2,113950133,113950133,Missense_Mutation,SNP,G,A,c.(1804-1806)cGg>cAg,5,347,0,114
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,LRP2,4036,2,170026258,170026258,Silent,SNP,G,A,c.(11449-11451)tgC>tgT,6,481,0,263
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RQCD1,9125,2,219438816,219438816,Intron,SNP,T,C,,7,108,0,24
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,GPR55,9290,2,231775360,231775360,Nonsense_Mutation,SNP,G,T,c.(316-318)taC>taA,14,368,0,126
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TIGD1,200765,2,233413797,233413797,Missense_Mutation,SNP,G,A,c.(796-798)Cgg>Tgg,5,218,0,73
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PRLH,51052,2,238475709,238475709,Missense_Mutation,SNP,G,A,c.(154-156)cGc>cAc,8,911,0,221
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CNTN6,27255,3,1269671,1269671,Missense_Mutation,SNP,T,C,c.(352-354)Ttt>Ctt,7,95,0,89
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,GRM7,2917,3,6903232,6903232,Missense_Mutation,SNP,G,C,c.(157-159)Ggg>Cgg,9,102,0,35
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ATP2B2,491,3,10370804,10370804,Silent,SNP,G,A,c.(3424-3426)cgC>cgT,49,691,0,149
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RAF1,5894,3,12660073,12660073,Missense_Mutation,SNP,C,A,c.(148-150)Gat>Tat,43,211,0,152
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,WNT7A,7476,3,13896295,13896295,Missense_Mutation,SNP,G,A,c.(304-306)Cgg>Tgg,58,608,0,192
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,Unknown,0,3,28578694,28578694,IGR,SNP,A,G,,7,190,0,40
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SCN11A,11280,3,38889018,38889018,Missense_Mutation,SNP,C,A,c.(4543-4545)Ggt>Tgt,4,125,0,72
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CX3CR1,1524,3,39307992,39307992,Missense_Mutation,SNP,C,A,c.(7-9)caG>caT,4,79,1,51
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,LARS2,23395,3,45500314,45500314,Missense_Mutation,SNP,C,A,c.(685-687)tCt>tAt,77,393,0,122
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SETD2,29072,3,47147188,47147188,Intron,SNP,A,T,,5,222,0,58
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,NEK4,6787,3,52783794,52783794,Missense_Mutation,SNP,T,A,c.(1420-1422)Agc>Tgc,3,16,0,10
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,LMOD3,56203,3,69167872,69167872,Missense_Mutation,SNP,C,T,c.(1633-1635)aGc>aAc,5,179,0,57
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,GRAMD1C,54762,3,113664276,113664276,Missense_Mutation,SNP,C,T,c.(1939-1941)aCg>aTg,5,253,0,91
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PARP14,54625,3,122439700,122439700,Intron,SNP,G,A,,7,418,0,122
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RP11-67L2.2,0,3,122605744,122605744,lincRNA,SNP,C,A,,6,127,0,40
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SEMA5B,54437,3,122629865,122629865,Missense_Mutation,SNP,G,A,c.(3118-3120)aCg>aTg,6,372,0,88
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,HEG1,57493,3,124739657,124739657,Missense_Mutation,SNP,G,A,c.(1231-1233)Cgt>Tgt,4,79,0,39
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PLCH1,23007,3,155393811,155393811,Silent,SNP,C,T,c.(16-18)gtG>gtA,3,30,0,11
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PHC3,80012,3,169854435,169854435,Missense_Mutation,SNP,G,A,c.(655-657)Cgc>Tgc,5,222,0,116
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ATP13A3,79572,3,194219514,194219514,5'Flank,SNP,G,A,,5,161,0,17
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,APOD,347,3,195303982,195303982,Intron,SNP,C,T,,5,151,0,36
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,NELFA,7469,4,1985176,1985176,Missense_Mutation,SNP,G,A,c.(1456-1458)aCg>aTg,6,446,1,112
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SEL1L3,23231,4,25849126,25849126,Missense_Mutation,SNP,C,T,c.(523-525)Gcc>Acc,4,102,0,67
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,C4orf19,55286,4,37462486,37462486,Intron,SNP,T,C,,4,99,0,54
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,KCTD8,386617,4,44449953,44449953,Silent,SNP,G,A,c.(586-588)ggC>ggT,5,107,1,43
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RPL34-AS1,285456,4,109462713,109462713,lincRNA,SNP,C,T,,6,124,0,19
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,NDST4,64579,4,115763828,115763828,Intron,SNP,G,A,,4,62,0,11
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PHF17,0,4,129767661,129767661,Silent,SNP,G,A,c.(268-270)ccG>ccA,5,235,0,63
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MND1,84057,4,154282718,154282718,Intron,SNP,G,A,,6,265,0,78
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,DCHS2,54798,4,155155882,155155882,Missense_Mutation,SNP,G,A,c.(8557-8559)Cac>Tac,5,137,0,54
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CTNND2,1501,5,10992762,10992762,Missense_Mutation,SNP,C,G,c.(3112-3114)Gcc>Ccc,119,467,0,120
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SKP2,6502,5,36177290,36177290,Missense_Mutation,SNP,T,A,c.(955-957)gaT>gaA,12,139,0,71
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CARD6,84674,5,40843320,40843320,Missense_Mutation,SNP,C,G,c.(349-351)gCt>gGt,10,158,0,71
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PARP8,79668,5,50090818,50090818,Missense_Mutation,SNP,G,A,c.(994-996)tGt>tAt,8,555,0,197
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,HSPB3,8988,5,53752063,53752063,Silent,SNP,G,C,c.(442-444)ggG>ggC,44,475,0,201
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,FBN2,2201,5,127647051,127647051,Missense_Mutation,SNP,C,T,c.(5014-5016)aGc>aAc,12,448,0,230
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TCF7,6932,5,133451613,133451613,Silent,SNP,G,A,c.(328-330)ccG>ccA,7,468,0,111
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,EGR1,1958,5,137802455,137802455,Missense_Mutation,SNP,C,T,c.(316-318)cCt>cTt,4,120,0,38
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,HDAC3,8841,5,141005324,141005324,Silent,SNP,G,A,c.(985-987)ttC>ttT,7,420,0,113
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ARSI,340075,5,149677112,149677112,Missense_Mutation,SNP,G,A,c.(1375-1377)Cgc>Tgc,21,259,0,68
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,NMUR2,56923,5,151784252,151784252,Silent,SNP,G,A,c.(421-423)agC>agT,7,874,0,171
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,DPCR1,135656,6,30918839,30918839,Missense_Mutation,SNP,G,C,c.(2596-2598)tgG>tgC,7,576,0,256
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TNXB,7148,6,32010328,32010328,Silent,SNP,G,A,c.(12112-12114)gcC>gcT,7,885,0,348
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CMTR1,23070,6,37414130,37414130,Missense_Mutation,SNP,G,A,c.(349-351)Gtt>Att,6,388,0,105
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PRIM2,5558,6,57467089,57467089,Missense_Mutation,SNP,G,A,c.(1030-1032)Ggt>Agt,18,245,0,187
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,FAM135A,57579,6,71212443,71212443,Silent,SNP,G,A,c.(976-978)acG>acA,5,256,0,94
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MTO1,25821,6,74190023,74190023,Silent,SNP,T,C,c.(1135-1137)gtT>gtC,6,398,1,115
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,COL12A1,1303,6,75853113,75853113,Intron,SNP,G,A,,5,298,0,129
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SRSF12,135295,6,89827536,89827536,Intron,SNP,G,A,,5,424,0,108
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TMEM106B,54664,7,12255310,12255310,Intron,SNP,T,C,,4,70,0,25
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MEOX2,4223,7,15725953,15725953,Silent,SNP,G,A,c.(73-75)tcC>tcT,6,406,0,88
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CREB5,9586,7,28848876,28848876,Nonsense_Mutation,SNP,C,T,c.(1099-1101)Cga>Tga,115,403,0,92
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,Unknown,0,7,35157399,35157399,IGR,SNP,C,T,,4,92,0,52
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,AOAH,313,7,36763626,36763626,Splice_Site,SNP,C,A,c.e1+1,59,243,1,71
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,EGFR,1956,7,55241727,55241727,Silent,SNP,G,A,c.(2173-2175)acG>acA,6,488,0,137
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF680,340252,7,63982003,63982003,Missense_Mutation,SNP,A,G,c.(1129-1131)Tcc>Ccc,5,208,1,122
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF107,51427,7,64168753,64168753,Missense_Mutation,SNP,C,T,c.(2071-2073)Ccc>Tcc,5,274,0,135
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,KCTD7,154881,7,66238696,66238696,Silent,SNP,T,A,c.(196-198)ccT>ccA,7,583,0,122
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CYP3A43,64816,7,99447679,99447679,Intron,SNP,G,A,,6,291,0,66
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TAF6,6878,7,99709441,99709441,Silent,SNP,G,A,c.(808-810)aaC>aaT,6,538,0,179
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MGAM,8972,7,141720786,141720786,Missense_Mutation,SNP,G,A,c.(460-462)cGg>cAg,6,408,0,129
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RP11-1220K2.2,0,7,141920475,141920475,Missense_Mutation,SNP,G,A,c.(6163-6165)aGt>aAt,5,281,1,138
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,NOS3,4846,7,150700345,150700345,Missense_Mutation,SNP,T,C,c.(1858-1860)gTt>gCt,8,376,0,94
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,UBE3C,9690,7,156957115,156957115,Intron,SNP,T,C,,7,427,0,152
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,NCAPG2,54892,7,158456900,158456900,Missense_Mutation,SNP,G,T,c.(1789-1791)gaC>gaA,7,272,0,91
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,Unknown,0,8,12516996,12516996,IGR,SNP,C,T,,5,303,0,122
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RP11-383H13.1,0,8,72914470,72914470,Missense_Mutation,SNP,C,T,c.(175-177)tCg>tTg,6,213,0,78
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,JPH1,56704,8,75227656,75227656,Silent,SNP,G,A,c.(577-579)ttC>ttT,7,819,0,222
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SLC7A13,157724,8,87227807,87227807,Intron,SNP,T,C,,5,100,0,39
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RIMS2,9699,8,104932956,104932956,Intron,SNP,G,A,,5,275,0,78
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,GSDMD,79792,8,144640118,144640118,Intron,SNP,A,G,,4,82,0,16
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,NAPRT1,0,8,144658753,144658753,Intron,SNP,A,G,,31,142,1,48
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CCDC166,100130274,8,144789187,144789187,Missense_Mutation,SNP,G,A,c.(997-999)Cgg>Tgg,7,555,0,149
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PLEC,5339,8,144995280,144995280,Silent,SNP,G,A,c.(9118-9120)gaC>gaT,9,946,0,281
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ARHGAP39,80728,8,145773100,145773100,Missense_Mutation,SNP,C,T,c.(1369-1371)cGg>cAg,30,263,0,86
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ACO1,48,9,32445694,32445694,Intron,SNP,C,T,,5,67,0,13
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PTBP3,9991,9,114982572,114982572,IGR,SNP,G,A,,6,203,0,58
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,FIBCD1,84929,9,133799242,133799242,Silent,SNP,G,A,c.(736-738)gaC>gaT,8,554,0,107
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TOR4A,54863,9,140173621,140173621,Silent,SNP,G,A,c.(478-480)gcG>gcA,8,490,0,165
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ARRDC1,92714,9,140509101,140509101,Missense_Mutation,SNP,G,A,c.(886-888)Ggc>Agc,6,350,0,106
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PFKFB3,5209,10,6263458,6263458,Missense_Mutation,SNP,G,A,c.(946-948)Gag>Aag,6,521,0,123
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,GPR158,57512,10,25887756,25887756,Missense_Mutation,SNP,T,A,c.(3199-3201)gaT>gaA,6,482,0,156
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZMIZ1,57178,10,81060607,81060607,Missense_Mutation,SNP,G,A,c.(1927-1929)Gac>Aac,8,1152,0,247
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PANK1,53354,10,91405042,91405042,Silent,SNP,A,T,c.(16-18)ggT>ggA,125,599,0,189
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MRPL23,6150,11,1973402,1973402,Silent,SNP,C,T,c.(184-186)aaC>aaT,33,430,0,116
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,OR52H1,390067,11,5566076,5566076,Silent,SNP,G,A,c.(676-678)taC>taT,6,495,0,167
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,USH1C,10083,11,17537815,17537815,Intron,SNP,G,A,,7,792,0,275
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PACSIN3,29763,11,47202056,47202056,Missense_Mutation,SNP,C,T,c.(397-399)Gag>Aag,7,538,0,162
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,AGBL2,79841,11,47732427,47732427,Intron,SNP,C,A,,7,425,0,134
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RTN4RL2,349667,11,57243961,57243961,Silent,SNP,C,T,c.(838-840)cgC>cgT,7,334,0,108
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PTGDR2,11251,11,60620332,60620332,Silent,SNP,G,A,c.(862-864)ttC>ttT,6,397,0,77
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,FADS1,3992,11,61579429,61579429,Intron,SNP,G,C,,4,79,0,25
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PYGM,5837,11,64521424,64521424,Missense_Mutation,SNP,G,A,c.(1165-1167)cCg>cTg,7,772,0,200
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MEN1,4221,11,64575408,64575408,Silent,SNP,G,A,c.(622-624)aaC>aaT,7,816,0,211
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MUS81,80198,11,65628250,65628250,Missense_Mutation,SNP,G,A,c.(25-27)cGg>cAg,9,648,0,187
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,BBS1,582,11,66291318,66291318,Missense_Mutation,SNP,C,T,c.(1075-1077)Cgt>Tgt,9,1240,0,327
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,KDM2A,22992,11,67017892,67017892,Silent,SNP,G,A,c.(2389-2391)tcG>tcA,8,899,0,201
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RP11-849H4.2,0,11,71628280,71628280,3'UTR,SNP,G,A,,4,75,0,15
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RSF1,51773,11,77411861,77411861,Missense_Mutation,SNP,C,A,c.(2413-2415)Gat>Tat,16,239,0,101
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RSF1,51773,11,77411944,77411944,Missense_Mutation,SNP,C,A,c.(2329-2331)aGa>aTa,23,252,0,122
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RSF1,51773,11,77412213,77412213,Silent,SNP,C,T,c.(2059-2061)caG>caA,21,245,0,153
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RSF1,51773,11,77412869,77412869,Missense_Mutation,SNP,C,T,c.(1405-1407)Gaa>Aaa,11,217,0,106
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RSF1,51773,11,77413040,77413040,Missense_Mutation,SNP,C,G,c.(1234-1236)Gag>Cag,5,134,0,64
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TENM4,26011,11,78383328,78383328,Missense_Mutation,SNP,C,T,c.(5542-5544)cGc>cAc,5,288,0,85
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,FAT3,120114,11,92085878,92085878,Missense_Mutation,SNP,A,T,c.(598-600)aaA>aaT,13,105,0,49
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,DYNC2H1,79659,11,103092797,103092797,Missense_Mutation,SNP,C,A,c.(9145-9147)aCc>aAc,4,131,0,55
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TMPRSS4-AS1,100526771,11,117896399,117896399,RNA,SNP,A,G,,6,119,0,69
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SLC6A13,6540,12,335689,335689,Intron,SNP,C,A,,6,265,0,95
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,VWF,7450,12,6128444,6128444,Silent,SNP,G,A,c.(4138-4140)atC>atT,10,1092,0,225
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TNFRSF1A,7132,12,6442989,6442989,Missense_Mutation,SNP,G,A,c.(235-237)aCg>aTg,7,642,1,170
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,NOP2,4839,12,6667273,6667273,Intron,SNP,G,C,,8,314,0,70
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PEX5,5830,12,7361727,7361727,Silent,SNP,C,T,c.(1519-1521)gcC>gcT,8,1248,0,310
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CLEC7A,64581,12,10277766,10277766,Intron,SNP,T,C,,5,214,0,64
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,STK38L,23012,12,27461295,27461295,Silent,SNP,C,T,c.(208-210)caC>caT,37,132,0,50
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SLC48A1,55652,12,48174380,48174380,3'UTR,SNP,T,C,,4,119,0,33
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ASIC1,41,12,50467718,50467718,Intron,SNP,C,T,,5,172,0,44
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PRIM1,5557,12,57140173,57140173,Intron,SNP,C,T,,5,157,0,42
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MDM1,56890,12,68689096,68689096,Missense_Mutation,SNP,G,A,c.(2083-2085)Cgg>Tgg,5,266,0,129
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MDM2,4193,12,69209429,69209429,Intron,SNP,C,G,,6,240,0,53
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PTPRR,5801,12,71147985,71147985,Missense_Mutation,SNP,C,T,c.(724-726)Gta>Ata,5,126,0,108
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ERP29,10961,12,112457661,112457661,Silent,SNP,C,T,c.(244-246)tcC>tcT,82,372,0,146
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RBM19,9904,12,114296588,114296588,Intron,SNP,G,A,,6,305,0,75
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MED13L,23389,12,116404027,116404027,Missense_Mutation,SNP,A,G,c.(6247-6249)Tct>Cct,27,340,0,150
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SIRT4,23409,12,120750729,120750729,Missense_Mutation,SNP,A,C,c.(835-837)Aag>Cag,8,271,0,131
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,GTF2H3,2967,12,124124552,124124552,Intron,SNP,C,T,,5,223,1,75
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RIMBP2,23504,12,130927111,130927111,Silent,SNP,G,A,c.(733-735)aaC>aaT,6,517,0,144
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,HSPH1,10808,13,31732966,31732966,Missense_Mutation,SNP,T,C,c.(142-144)Atc>Gtc,9,179,0,87
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,DACH1,1602,13,72440556,72440556,Missense_Mutation,SNP,C,T,c.(352-354)Ggc>Agc,5,215,0,70
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,OR4K2,390431,14,20345246,20345246,Missense_Mutation,SNP,T,C,c.(820-822)Ttt>Ctt,37,203,0,130
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RPGRIP1,57096,14,21786286,21786286,Intron,SNP,G,A,,8,563,0,134
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CHD8,57680,14,21868480,21868480,Intron,SNP,G,T,,4,81,0,63
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TRAV2,28691,14,22180622,22180622,RNA,SNP,G,A,,5,162,0,71
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PRPF39,55015,14,45571742,45571742,Missense_Mutation,SNP,C,A,c.(580-582)Cat>Aat,5,89,0,49
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PLEKHH1,57475,14,68053868,68053868,Silent,SNP,C,T,c.(4009-4011)ccC>ccT,6,466,0,173
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CCDC88C,440193,14,91749698,91749698,Silent,SNP,G,A,c.(4603-4605)atC>atT,6,464,0,87
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,KIF26A,26153,14,104624149,104624149,Missense_Mutation,SNP,G,A,c.(793-795)Gtg>Atg,6,600,0,140
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CEP170B,283638,14,105354134,105354134,Silent,SNP,C,A,c.(3556-3558)ccC>ccA,6,304,0,89
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,JAG2,3714,14,105611391,105611391,Missense_Mutation,SNP,G,A,c.(2959-2961)aCg>aTg,7,599,1,199
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,IGHM,3507,14,106321713,106321713,RNA,SNP,G,A,,9,1653,0,426
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,OCA2,4948,15,28202840,28202840,Missense_Mutation,SNP,G,A,c.(1678-1680)Cgc>Tgc,11,1642,1,456
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,INO80,54617,15,41272502,41272502,Silent,SNP,G,A,c.(4588-4590)aaC>aaT,9,1021,0,263
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,UBR1,197131,15,43384176,43384176,Intron,SNP,C,T,,8,388,0,90
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TLN2,83660,15,63092969,63092969,Splice_Site,SNP,G,A,c.e49+1,5,233,0,67
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TPM1,7168,15,63349245,63349245,Missense_Mutation,SNP,G,A,c.(301-303)cGt>cAt,8,811,0,307
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SLC28A1,9154,15,85504761,85504761,Missense_Mutation,SNP,G,A,c.(1585-1587)cGa>cAa,6,232,0,64
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,DNM1P46,196968,15,100330531,100330531,RNA,SNP,T,C,,6,154,1,39
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,C16orf89,146556,16,5094809,5094809,Silent,SNP,T,C,c.(982-984)gtA>gtG,6,245,1,61
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,LITAF,9516,16,11642567,11642567,3'UTR,SNP,T,C,,6,219,0,84
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PRR14,78994,16,30663647,30663647,Intron,SNP,A,G,,6,479,0,92
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF668,79759,16,31073109,31073109,Silent,SNP,C,T,c.(1138-1140)acG>acA,7,729,0,188
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CCDC135,0,16,57760104,57760104,Missense_Mutation,SNP,C,T,c.(1882-1884)aCg>aTg,67,735,0,199
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PRSS54,221191,16,58320037,58320037,Missense_Mutation,SNP,T,C,c.(325-327)gAg>gGg,34,371,0,181
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,HSD11B2,3291,16,67469602,67469602,Missense_Mutation,SNP,G,A,c.(337-339)Gta>Ata,9,1362,0,382
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SLC7A6OS,84138,16,68344477,68344477,Missense_Mutation,SNP,G,A,c.(232-234)Ccg>Tcg,6,243,0,62
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MTHFSD,64779,16,86580194,86580194,Missense_Mutation,SNP,A,G,c.(412-414)gTg>gCg,20,278,0,110
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF778,197320,16,89294014,89294014,Missense_Mutation,SNP,G,A,c.(1234-1236)Gta>Ata,5,268,0,128
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,FAM101B,359845,17,293264,293264,Silent,SNP,G,A,c.(124-126)taC>taT,5,253,0,73
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SPNS3,201305,17,4389595,4389595,Missense_Mutation,SNP,G,A,c.(1252-1254)Gct>Act,4,140,0,59
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,DNAH2,146754,17,7726956,7726956,Intron,SNP,G,A,,24,99,0,48
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ALOXE3,59344,17,8000016,8000016,Missense_Mutation,SNP,G,C,c.(2065-2067)Cgg>Ggg,103,612,0,164
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MPRIP,23164,17,17041238,17041238,Missense_Mutation,SNP,G,A,c.(745-747)Gcc>Acc,4,148,0,34
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,FLCN,201163,17,17119806,17119806,Silent,SNP,G,A,c.(1186-1188)ccC>ccT,7,923,0,221
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,COPS3,8533,17,17164930,17164930,Intron,SNP,C,T,,7,369,1,107
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MYO15A,51168,17,18039785,18039785,Missense_Mutation,SNP,G,C,c.(4651-4653)Gcc>Ccc,8,1177,0,287
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MYO15A,51168,17,18064644,18064644,Nonsense_Mutation,SNP,C,T,c.(9400-9402)Cga>Tga,6,731,1,204
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,KRT34,3885,17,39538435,39538435,Missense_Mutation,SNP,C,T,c.(190-192)Gtg>Atg,70,778,0,225
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,KRT32,3882,17,39623510,39623510,Missense_Mutation,SNP,G,A,c.(67-69)tCg>tTg,7,575,0,167
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,G6PC,2538,17,41063381,41063381,Missense_Mutation,SNP,G,A,c.(1012-1014)Gtc>Atc,6,576,1,136
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SLC4A1,6521,17,42337821,42337821,Missense_Mutation,SNP,G,A,c.(436-438)Cgg>Tgg,7,691,0,224
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SPAG9,9043,17,49076849,49076849,Intron,SNP,C,T,,4,118,0,39
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SCN4A,6329,17,62028934,62028934,Silent,SNP,G,A,c.(2701-2703)gaC>gaT,7,710,0,191
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TMC8,147138,17,76129619,76129619,Missense_Mutation,SNP,C,T,c.(664-666)Cgg>Tgg,9,1063,0,295
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,DLGAP1,9229,18,3729340,3729340,Silent,SNP,G,A,c.(1384-1386)tcC>tcT,8,505,0,151
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,Unknown,0,18,11609855,11609855,IGR,SNP,T,G,,58,826,0,267
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PARD6G,84552,18,77918109,77918109,Missense_Mutation,SNP,C,T,c.(676-678)Ggg>Agg,8,1216,0,246
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PCSK4,54760,19,1486918,1486918,Silent,SNP,G,A,c.(1000-1002)taC>taT,7,562,0,134
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TMPRSS9,360200,19,2425387,2425387,Missense_Mutation,SNP,G,A,c.(2914-2916)Gtg>Atg,6,571,0,160
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TBXA2R,6915,19,3595050,3595050,3'UTR,SNP,G,C,,5,148,0,34
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SIRT6,51548,19,4174851,4174851,Silent,SNP,G,A,c.(829-831)gaC>gaT,7,422,0,122
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF433,163059,19,12126237,12126237,Missense_Mutation,SNP,C,T,c.(1444-1446)gGt>gAt,5,174,0,128
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,BRD4,23476,19,15366907,15366907,Silent,SNP,C,T,c.(1717-1719)acG>acA,7,391,0,79
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF682,91120,19,20117031,20117031,Missense_Mutation,SNP,C,A,c.(1279-1281)tGt>tTt,4,105,1,76
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF714,148206,19,21300774,21300774,Missense_Mutation,SNP,G,A,c.(1303-1305)cGa>cAa,7,281,0,154
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF714,148206,19,21301053,21301053,Missense_Mutation,SNP,A,G,c.(1582-1584)cAa>cGa,5,119,0,44
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF208,7757,19,22155194,22155194,Missense_Mutation,SNP,T,C,c.(2641-2643)aAa>aGa,5,251,1,175
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF257,113835,19,22271298,22271298,Missense_Mutation,SNP,T,G,c.(745-747)gTa>gGa,4,174,0,125
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF724P,440519,19,23405373,23405373,Silent,SNP,T,G,c.(1672-1674)ggA>ggC,7,240,0,169
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF850,342892,19,37239591,37239591,Missense_Mutation,SNP,A,G,c.(2350-2352)cTc>cCc,6,197,0,115
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF850,342892,19,37239593,37239593,Silent,SNP,C,T,c.(2347-2349)aaG>aaA,6,197,0,116
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,KCNK6,9424,19,38817870,38817870,Missense_Mutation,SNP,C,T,c.(769-771)Cgc>Tgc,7,697,0,186
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,FBXO17,115290,19,39439281,39439281,Silent,SNP,G,A,c.(385-387)aaC>aaT,6,377,1,100
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SPTBN4,57731,19,41060289,41060289,Silent,SNP,G,A,c.(4909-4911)ctG>ctA,6,217,0,62
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,EGLN2,112398,19,41307184,41307184,Missense_Mutation,SNP,G,A,c.(706-708)cGt>cAt,7,794,0,203
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF574,64763,19,42583990,42583990,Missense_Mutation,SNP,G,A,c.(1231-1233)cGt>cAt,6,366,0,120
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CEACAM1,634,19,43020934,43020934,Intron,SNP,T,C,,5,73,0,22
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MARK4,57787,19,45805775,45805775,Missense_Mutation,SNP,G,A,c.(2065-2067)cGc>cAc,7,842,0,268
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZC3H4,23211,19,47593360,47593360,Silent,SNP,G,A,c.(577-579)taC>taT,9,523,0,145
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,C5AR2,27202,19,47844149,47844149,Silent,SNP,C,T,c.(91-93)atC>atT,10,1030,0,292
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,POLD1,5424,19,50912858,50912858,Missense_Mutation,SNP,G,A,c.(2089-2091)Gcc>Acc,6,589,1,184
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF534,147658,19,52942191,52942191,Missense_Mutation,SNP,T,C,c.(1516-1518)cTt>cCt,4,100,0,70
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF28,7576,19,53304210,53304210,Missense_Mutation,SNP,G,C,c.(886-888)gaC>gaG,6,162,0,80
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,NLRP7,199713,19,55450912,55450912,Silent,SNP,C,T,c.(1273-1275)gcG>gcA,7,392,0,163
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF17,7565,19,57929301,57929301,Missense_Mutation,SNP,G,A,c.(37-39)Gtg>Atg,8,529,0,154
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ATRN,8455,20,3596497,3596497,Intron,SNP,G,A,,8,474,0,116
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ADAM33,80332,20,3653268,3653268,Silent,SNP,G,A,c.(1315-1317)tgC>tgT,8,534,0,125
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PRND,23627,20,4705473,4705473,Silent,SNP,C,T,c.(274-276)aaC>aaT,94,1242,0,353
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ZNF133,7692,20,18286452,18286452,Splice_Site,SNP,G,A,c.e2+1,5,214,0,84
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SLC24A3,57419,20,19662565,19662565,Silent,SNP,C,T,c.(829-831)aaC>aaT,6,570,0,191
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SLC24A3,57419,20,19664861,19664861,Silent,SNP,C,T,c.(943-945)Ctg>Ttg,6,308,0,78
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,INSM1,3642,20,20349346,20349346,Silent,SNP,C,T,c.(433-435)ggC>ggT,5,117,0,40
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,GGTLC1,92086,20,23967120,23967120,Silent,SNP,G,A,c.(127-129)gtC>gtT,8,1436,0,345
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,AHCY,191,20,32878174,32878174,Silent,SNP,G,A,c.(934-936)aaC>aaT,8,1065,0,254
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MYH7B,57644,20,33575446,33575446,Missense_Mutation,SNP,G,A,c.(1360-1362)Gag>Aag,6,341,1,96
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,AAR2,25980,20,34858485,34858485,Missense_Mutation,SNP,A,G,c.(1018-1020)Aag>Gag,5,201,0,79
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,AAR2,25980,20,34858560,34858560,Silent,SNP,A,C,c.(1093-1095)Aga>Cga,7,407,0,111
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,KCNG1,3755,20,49626637,49626637,Missense_Mutation,SNP,G,A,c.(238-240)aCg>aTg,8,791,0,186
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,KCNQ2,3785,20,62039860,62039860,Missense_Mutation,SNP,G,A,c.(1792-1794)gCg>gTg,8,822,0,245
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SRMS,6725,20,62172840,62172840,Silent,SNP,G,A,c.(1078-1080)gaC>gaT,6,419,0,112
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,OPRL1,4987,20,62729856,62729856,Missense_Mutation,SNP,G,A,c.(817-819)Gtg>Atg,7,1026,1,220
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,BACE2,25825,21,42647496,42647496,Missense_Mutation,SNP,G,A,c.(1501-1503)cGt>cAt,7,625,0,147
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TMPRSS2,7113,21,42845277,42845277,Missense_Mutation,SNP,C,A,c.(874-876)Gtg>Ttg,60,295,0,76
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,U2AF1,7307,21,44514658,44514658,Silent,SNP,G,A,c.(496-498)ggC>ggT,6,592,0,155
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PFKL,5211,21,45743689,45743689,Missense_Mutation,SNP,G,A,c.(1537-1539)cGc>cAc,6,497,1,139
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,KRTAP10-9,386676,21,46047130,46047130,Silent,SNP,C,T,c.(40-42)tcC>tcT,44,425,0,152
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,SLC19A1,6573,21,46951819,46951819,Missense_Mutation,SNP,G,A,c.(433-435)Cgg>Tgg,6,434,0,129
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,LSS,4047,21,47612624,47612624,Intron,SNP,T,C,,7,864,0,430
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,LSS,4047,21,47627439,47627439,Missense_Mutation,SNP,G,A,c.(1369-1371)aCg>aTg,7,690,0,139
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TXNRD2,10587,22,19906535,19906535,Intron,SNP,G,A,,8,541,0,144
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,LIF,3976,22,30639829,30639829,Silent,SNP,G,A,c.(418-420)acC>acT,9,1621,0,363
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CYTH4,27128,22,37695300,37695300,Silent,SNP,C,T,c.(385-387)ttC>ttT,6,609,0,135
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TRIOBP,11078,22,38168711,38168711,Missense_Mutation,SNP,G,A,c.(7039-7041)cGt>cAt,7,568,0,142
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,A4GALT,53947,22,43089247,43089247,Silent,SNP,G,A,c.(709-711)ttC>ttT,7,969,0,243
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PHF21B,112885,22,45279122,45279122,Silent,SNP,G,A,c.(1438-1440)gaC>gaT,7,733,0,196
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,CRELD2,79174,22,50315383,50315383,Missense_Mutation,SNP,G,A,c.(565-567)cGg>cAg,6,421,0,114
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TUBGCP6,85378,22,50659542,50659542,Silent,SNP,G,A,c.(3244-3246)caC>caT,8,761,1,253
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,LMF2,91289,22,50941857,50941857,Missense_Mutation,SNP,C,A,c.(2086-2088)tGc>tTc,6,391,0,99
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PPP2R3B,28227,X,308367,308367,Missense_Mutation,SNP,G,A,c.(571-573)aCg>aTg,6,373,0,101
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PDHA1,5160,X,19373589,19373589,Nonsense_Mutation,SNP,C,A,c.(724-726)taC>taA,5,227,0,88
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RBM10,8241,X,47006805,47006805,5'UTR,SNP,C,T,,7,401,0,102
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,ITIH6,347365,X,54783726,54783726,Silent,SNP,G,A,c.(2779-2781)ctC>ctT,10,10,0,9
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,TSIX,9383,X,73047145,73047145,lincRNA,SNP,C,A,,74,183,0,90
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RLIM,51132,X,73811854,73811854,Silent,SNP,G,T,c.(1294-1296)gtC>gtA,4,109,0,47
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MAGEE1,57692,X,75650243,75650243,Silent,SNP,C,T,c.(1918-1920)taC>taT,22,174,0,72
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,RAB40AL,282808,X,102192404,102192404,Missense_Mutation,SNP,C,T,c.(157-159)aCg>aTg,5,218,0,60
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,MAMLD1,10046,X,149638131,149638131,Missense_Mutation,SNP,G,A,c.(286-288)Ggc>Agc,4,45,1,38
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,AMELY,266,Y,6736447,6736447,Silent,SNP,G,A,c.(244-246)ccC>ccT,8,529,0,154
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,PUM2,23369,2,20454673,20454673,Frame_Shift_Del,DEL,A,-,c.(2827-2829)tccfs,26,208,,
RP-1532_PCProject_0123_T2_v4_Exome_OnPrem,FAM208B,54906,10,5784033,5784037,Intron,DEL,TCATG,-,,4,135,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,MRPS21,54460,1,150276619,150276619,Intron,SNP,A,G,,3,10,0,8
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,Unknown,0,1,173644491,173644491,IGR,SNP,T,C,,4,36,0,30
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,COG2,22796,1,230805229,230805229,Missense_Mutation,SNP,G,A,c.(721-723)cGg>cAg,5,66,0,70
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,NID1,4811,1,236189320,236189320,Silent,SNP,G,A,c.(1858-1860)caC>caT,8,316,0,197
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,CSNK1G3,1456,5,122881436,122881436,Nonsense_Mutation,SNP,C,T,c.(79-81)Cga>Tga,5,123,0,131
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,DPCR1,135656,6,30918391,30918391,Missense_Mutation,SNP,C,T,c.(2149-2151)tCc>tTc,5,112,1,250
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,RP11-307P5.1,0,6,148050992,148050992,lincRNA,SNP,A,G,,4,56,0,67
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,HECW1,23072,7,43482157,43482157,Missense_Mutation,SNP,G,A,c.(973-975)cGc>cAc,4,68,0,118
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,ZNF273,10793,7,64383765,64383765,Intron,SNP,T,C,,6,100,0,106
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,HR,55806,8,21977684,21977684,Missense_Mutation,SNP,G,A,c.(2779-2781)Cgc>Tgc,6,161,0,234
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,GSDMD,79792,8,144640118,144640118,Intron,SNP,A,G,,5,58,0,31
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,NCOA4,8031,10,51573333,51573333,Intron,SNP,C,T,,7,200,0,75
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,C10orf105,414152,10,73491847,73491847,Intron,SNP,C,T,,5,132,0,134
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,PSD,5662,10,104173681,104173681,Silent,SNP,C,T,c.(1396-1398)ccG>ccA,4,72,0,121
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,MALAT1,378938,11,65266514,65266514,lincRNA,SNP,G,A,,7,141,0,67
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,MDM2,4193,12,69209432,69209432,Intron,SNP,A,G,,4,38,0,25
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,TTLL5,23093,14,76284879,76284879,Intron,SNP,T,G,,6,48,0,19
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,ADAM10,102,15,58990509,58990509,Intron,SNP,A,G,,5,95,0,67
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,ADAM10,102,15,58990510,58990510,Intron,SNP,T,C,,6,93,0,64
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,FAH,2184,15,80460422,80460422,Missense_Mutation,SNP,C,T,c.(484-486)Cgt>Tgt,6,169,0,200
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,NTRK3,4916,15,88428933,88428933,Missense_Mutation,SNP,A,T,c.(2167-2169)Tgg>Agg,4,44,0,47
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,SLC12A3,6559,16,56899334,56899334,Missense_Mutation,SNP,G,A,c.(187-189)Gtg>Atg,6,161,0,219
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,BRCA1,672,17,41197111,41197111,3'UTR,SNP,A,G,,4,64,0,94
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,ABCA10,10349,17,67170532,67170532,Missense_Mutation,SNP,C,A,c.(3052-3054)Gta>Tta,5,36,0,40
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,ZNF253,56242,19,20002821,20002821,Silent,SNP,C,T,c.(763-765)ccC>ccT,5,120,0,165
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,ZNF430,80264,19,21240459,21240459,Missense_Mutation,SNP,A,G,c.(1345-1347)Ata>Gta,5,66,1,145
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,ZNF708,7562,19,21476836,21476836,Missense_Mutation,SNP,C,T,c.(931-933)gGa>gAa,4,42,0,115
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,C19orf12,83636,19,30191332,30191332,IGR,SNP,G,A,,6,166,0,357
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,ZNF701,55762,19,53075587,53075587,Silent,SNP,T,C,c.(91-93)ggT>ggC,5,81,0,69
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,HMGN1,3150,21,40717092,40717092,Missense_Mutation,SNP,C,T,c.(235-237)Ggg>Agg,6,129,0,101
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,ADM2,79924,22,50921714,50921714,3'UTR,SNP,C,T,,4,24,0,40
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,SHROOM4,57477,X,50334710,50334710,3'UTR,SNP,C,T,,5,39,0,26
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,RYR2,6262,1,237756786,237756787,Frame_Shift_Del,DEL,CA,-,c.(4285-4287)tcafs,3,14,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,RP11-507M3.1,0,2,24357954,24357955,Intron,INS,-,A,,5,31,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,SIX3,6496,2,45169146,45169147,5'UTR,INS,-,TCT,,4,10,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,KIF5C,3800,2,149630231,149630232,5'Flank,INS,-,AG,,1,12,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,AC131097.3,0,2,242945799,242945800,RNA,INS,-,CT,,7,14,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,BMP2K,55589,4,79799814,79799814,Intron,DEL,T,-,,4,8,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,GPM6A,2823,4,176561801,176561802,Intron,INS,-,T,,4,6,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,TRIO,7204,5,14388900,14388901,Intron,DEL,CA,-,,4,0,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,Unknown,0,5,110285503,110285504,IGR,INS,-,TC,,3,21,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,PPP2R5D,5528,6,42977044,42977048,Intron,DEL,TGCCT,-,,3,46,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,FYN,2534,6,112035695,112035696,Intron,DEL,TT,-,,4,9,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,Unknown,0,7,66063721,66063721,IGR,DEL,C,-,,3,3,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,STAG3,10734,7,99795873,99795874,Intron,INS,-,CTG,,4,20,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,SLCO1B7,338821,12,21176057,21176058,Intron,INS,-,G,,3,2,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,HSP90B1,7184,12,104341113,104341115,In_Frame_Del,DEL,CCT,-,c.(2287-2289)cctdel,6,32,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,TXNRD1,7296,12,104713469,104713470,Intron,INS,-,CA,,4,6,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,PARP4,143,13,25068650,25068650,Intron,DEL,G,-,,4,5,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,SLC12A1,6557,15,48513103,48513104,Intron,INS,-,A,,3,19,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,ALG1,56052,16,5123355,5123356,Intron,INS,-,G,,8,16,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,Unknown,0,16,34331761,34331762,IGR,INS,-,A,,4,32,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,CYLD,1540,16,50818159,50818161,Intron,DEL,TCC,-,,2,20,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,GFAP,2670,17,42990990,42990990,Intron,DEL,T,-,,4,14,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,COIL,8161,17,55028040,55028041,Frame_Shift_Ins,INS,-,G,c.(562-564)aagfs,4,41,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,CYP4F8,11283,19,15729137,15729137,RNA,DEL,G,-,,7,46,,
RP-1532_PCProject_0125_T1_v3_Exome_OnPrem,EHD2,30846,19,48245325,48245328,3'UTR,DEL,TCCG,-,,3,0,,
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,AGRN,375790,1,978969,978969,Missense_Mutation,SNP,G,A,c.(1654-1656)cGc>cAc,4,45,0,231
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,CELSR2,1952,1,109805448,109805448,Missense_Mutation,SNP,C,T,c.(4564-4566)cCc>cTc,6,32,0,96
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,METTL13,51603,1,171765778,171765778,Missense_Mutation,SNP,C,A,c.(1981-1983)gCc>gAc,11,181,0,346
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,ATP6V1B1,525,2,71190792,71190792,Intron,SNP,C,T,,9,133,0,301
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,TGFBRAP1,9392,2,105912956,105912956,Missense_Mutation,SNP,C,A,c.(895-897)Gtt>Ttt,4,54,0,81
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,Unknown,0,2,147346239,147346239,IGR,SNP,C,T,,11,146,0,373
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,ZNF804A,91752,2,185798364,185798364,Missense_Mutation,SNP,G,A,c.(289-291)cGa>cAa,6,45,0,109
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,GRIP2,80852,3,14565164,14565164,RNA,SNP,C,T,,8,64,0,182
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,FSTL1,11167,3,120121747,120121747,Missense_Mutation,SNP,T,C,c.(712-714)gAa>gGa,21,133,0,139
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,TMEM212,389177,3,171561216,171561216,Silent,SNP,C,T,c.(43-45)Ctg>Ttg,6,110,0,106
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,ANK2,287,4,114275618,114275618,Silent,SNP,C,T,c.(5842-5844)caC>caT,5,72,0,169
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,MEF2C,4208,5,88018605,88018605,Missense_Mutation,SNP,C,T,c.(1237-1239)cGc>cAc,16,216,0,272
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,EPB41L4A,64097,5,111540095,111540095,Silent,SNP,A,G,c.(1351-1353)gaT>gaC,6,98,0,126
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,SLIT3,6586,5,168098270,168098270,Missense_Mutation,SNP,C,T,c.(4060-4062)Gag>Aag,4,42,0,133
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,METTL24,728464,6,110620335,110620335,Silent,SNP,G,A,c.(574-576)acC>acT,5,93,0,176
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,SHPRH,257218,6,146266663,146266663,Missense_Mutation,SNP,G,A,c.(1432-1434)Cgg>Tgg,7,142,0,165
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,MUC17,140453,7,100687030,100687030,Silent,SNP,C,T,c.(12331-12333)acC>acT,6,37,0,86
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,NRG1,3084,8,32505614,32505614,Intron,SNP,C,T,,4,31,0,142
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,CDH17,1015,8,95142957,95142957,Nonsense_Mutation,SNP,G,T,c.(2293-2295)tgC>tgA,8,33,0,72
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,OXR1,55074,8,107371847,107371847,Silent,SNP,T,C,c.(4-6)tcT>tcC,21,114,0,169
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,C9orf85,138241,9,74597629,74597629,Missense_Mutation,SNP,A,G,c.(379-381)cAc>cGc,4,23,0,37
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,PCSK5,5125,9,78682970,78682970,Intron,SNP,C,A,,5,45,0,72
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,C10orf71,118461,10,50532389,50532389,Missense_Mutation,SNP,C,T,c.(1798-1800)gCc>gTc,10,40,0,172
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,RP11-451M19.3,0,10,111711705,111711705,Missense_Mutation,SNP,T,C,c.(139-141)Acc>Gcc,4,29,0,29
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,MAP6,4135,11,75299105,75299105,Missense_Mutation,SNP,G,C,c.(1441-1443)Cct>Gct,5,95,0,230
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,CDON,50937,11,125885260,125885260,Silent,SNP,A,G,c.(1072-1074)caT>caC,27,150,0,276
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,HCN4,10021,15,73635882,73635882,Silent,SNP,G,A,c.(1051-1053)ccC>ccT,5,83,0,255
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,EDC4,23644,16,67917000,67917000,Missense_Mutation,SNP,G,T,c.(3769-3771)Gcc>Tcc,4,36,0,118
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,CTNS,1497,17,3567555,3567555,IGR,SNP,G,A,,10,94,0,221
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,COL1A1,1277,17,48278834,48278834,Missense_Mutation,SNP,G,A,c.(40-42)gCg>gTg,5,55,0,90
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,TEX2,55852,17,62265630,62265630,Silent,SNP,G,C,c.(2320-2322)ctC>ctG,16,119,0,241
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,ZNF737,100129842,19,20727843,20727843,Missense_Mutation,SNP,C,A,c.(1165-1167)aGa>aTa,5,96,0,190
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,ZNF430,80264,19,21240459,21240459,Missense_Mutation,SNP,A,G,c.(1345-1347)Ata>Gta,6,92,0,169
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,ZNF850,342892,19,37239677,37239677,Silent,SNP,T,C,c.(2263-2265)aaA>aaG,5,114,1,187
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,ZNF813,126017,19,53995104,53995104,Missense_Mutation,SNP,C,T,c.(1618-1620)Cat>Tat,5,101,1,128
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,NLRP12,91662,19,54314479,54314479,Missense_Mutation,SNP,G,A,c.(433-435)gCg>gTg,7,129,0,356
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,ZNF814,730051,19,58385832,58385832,Missense_Mutation,SNP,A,G,c.(925-927)gTt>gCt,4,54,0,145
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,CSRP2BP,57325,20,18143418,18143418,Silent,SNP,G,A,c.(1498-1500)gcG>gcA,9,89,0,172
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,ZNF334,55713,20,45131672,45131672,Silent,SNP,G,A,c.(304-306)ttC>ttT,4,55,0,65
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,KCNJ15,3772,21,39672072,39672072,Nonsense_Mutation,SNP,C,T,c.(889-891)Cga>Tga,11,71,0,154
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,MAMLD1,10046,X,149631080,149631080,Missense_Mutation,SNP,C,T,c.(139-141)Ctc>Ttc,10,73,0,211
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,CASZ1,54897,1,10714507,10714508,Frame_Shift_Ins,INS,-,GTAC,c.(1804-1809)ttctacfs,6,37,,
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,HMCN1,83872,1,186092482,186092483,Intron,INS,-,T,,2,8,,
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,CACNA1S,779,1,201056819,201056822,Intron,DEL,CCTC,-,,4,1,,
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,ITGA6,3655,2,173368799,173368800,Intron,INS,-,G,,3,23,,
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,PMS1,5378,2,190728738,190728742,Frame_Shift_Del,DEL,ATTTT,-,c.(2125-2130)aattttfs,3,62,,
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,DLG1,1739,3,196803578,196803579,Intron,INS,-,GG,,4,26,,
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,AFM,173,4,74349944,74349944,Intron,DEL,A,-,,4,7,,
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,SYNE1,23345,6,152660612,152660613,Intron,INS,-,TGA,,3,13,,
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,SLC26A5,375611,7,103029627,103029632,Intron,DEL,AGTGTG,-,,3,57,,
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,COG5,10466,7,106851592,106851594,In_Frame_Del,DEL,AAT,-,c.(2275-2277)attdel,47,227,,
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,NUP107,57122,12,69136075,69136076,Intron,INS,-,G,,3,16,,
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,CAPN3,825,15,42695804,42695805,Intron,INS,-,G,,3,3,,
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,LRRC36,55282,16,67396056,67396060,Intron,DEL,GTTTT,-,,4,169,,
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,ATP9B,374868,18,77090170,77090170,Intron,DEL,C,-,,3,5,,
RP-1532_PCProject_0130_T1_v3_Exome_OnPrem,DCAF8L1,139425,X,27999124,27999125,In_Frame_Ins,INS,-,TGT,c.(325-330)gaggaa>gagACAgaa,3,19,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,AGRN,375790,1,977413,977413,Missense_Mutation,SNP,G,A,c.(1255-1257)Gtc>Atc,6,361,0,189
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ATAD3B,83858,1,1418429,1418429,Intron,SNP,T,C,,9,295,0,156
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,VPS13D,55187,1,12353624,12353624,Missense_Mutation,SNP,C,T,c.(5896-5898)Cgc>Tgc,5,74,0,95
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,Unknown,0,1,13183086,13183086,IGR,SNP,C,T,,4,96,0,117
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PADI4,23569,1,17660989,17660989,Intron,SNP,A,G,,7,80,0,40
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PADI4,23569,1,17661023,17661023,Intron,SNP,T,C,,7,57,1,38
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,C1QC,714,1,22973852,22973852,Missense_Mutation,SNP,C,T,c.(313-315)cCt>cTt,6,78,0,111
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,C1QB,713,1,22987846,22987846,Silent,SNP,C,T,c.(727-729)tcC>tcT,5,158,0,109
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,EPHB2,2048,1,23235517,23235517,Silent,SNP,C,T,c.(2353-2355)ggC>ggT,6,204,0,227
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RCC1,1104,1,28832807,28832807,Intron,SNP,G,C,,5,136,1,91
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MATN1,4146,1,31189767,31189767,Intron,SNP,G,A,,4,55,0,62
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PHC2,1912,1,33820669,33820669,Nonsense_Mutation,SNP,G,A,c.(1162-1164)Cag>Tag,6,137,0,91
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TFAP2E,339488,1,36054082,36054082,Silent,SNP,G,A,c.(712-714)gtG>gtA,4,60,0,46
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ATP6V0B,533,1,44441520,44441520,Splice_Site,SNP,G,A,c.(115-117)tGg>tAg,4,11,0,20
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,AL161915.1,0,1,54570345,54570345,Missense_Mutation,SNP,A,G,c.(205-207)Act>Gct,6,37,0,19
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ACOT11,26027,1,55073662,55073662,Missense_Mutation,SNP,G,A,c.(1549-1551)cGa>cAa,5,197,0,160
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MROH7,374977,1,55124853,55124853,Intron,SNP,T,C,,5,33,0,24
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,INADL,10207,1,62628598,62628598,3'UTR,SNP,G,A,,5,62,0,21
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RPE65,6121,1,68910517,68910517,Missense_Mutation,SNP,C,T,c.(295-297)Gtc>Atc,6,204,0,194
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SRSF11,9295,1,70716131,70716131,Missense_Mutation,SNP,G,A,c.(1201-1203)aGt>aAt,6,220,0,87
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HFM1,164045,1,91818099,91818099,Silent,SNP,A,G,c.(1939-1941)gaT>gaC,4,46,0,61
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TGFBR3,7049,1,92266548,92266548,Intron,SNP,A,G,,6,76,0,20
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,GFI1,2672,1,92946204,92946204,Missense_Mutation,SNP,C,T,c.(739-741)cGc>cAc,6,454,0,283
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CELSR2,1952,1,109801491,109801491,Missense_Mutation,SNP,G,A,c.(3748-3750)Gac>Aac,7,541,1,283
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CELSR2,1952,1,109808496,109808496,Missense_Mutation,SNP,G,A,c.(5866-5868)cGc>cAc,4,70,0,72
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HRNR,388697,1,152193268,152193268,Silent,SNP,C,T,c.(835-837)tcG>tcA,8,409,0,356
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HRNR,388697,1,152193285,152193285,Missense_Mutation,SNP,T,C,c.(820-822)Aga>Gga,7,421,0,337
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,THBS3,7059,1,155174905,155174905,Silent,SNP,C,T,c.(487-489)gcG>gcA,5,146,0,217
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ASH1L,55870,1,155315911,155315911,Intron,SNP,G,C,,6,99,0,64
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,KIRREL,55243,1,158056530,158056530,Missense_Mutation,SNP,G,A,c.(655-657)Gtg>Atg,5,84,0,103
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,XCL1,6375,1,168550461,168550461,3'UTR,SNP,G,A,,5,43,0,44
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MROH9,80133,1,170961337,170961337,Missense_Mutation,SNP,C,A,c.(1060-1062)tCt>tAt,4,57,0,41
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,Unknown,0,1,173644491,173644491,IGR,SNP,T,C,,6,59,0,30
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PPP1R12B,4660,1,202418232,202418232,Missense_Mutation,SNP,G,A,c.(1783-1785)Gtt>Att,7,179,0,132
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TMCC2,9911,1,205238830,205238830,Silent,SNP,G,A,c.(1498-1500)gcG>gcA,6,158,0,122
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,KCTD3,51133,1,215754371,215754371,Intron,SNP,G,A,,6,37,0,13
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,DISP1,84976,1,223177283,223177283,Silent,SNP,C,T,c.(2542-2544)ttC>ttT,33,295,0,314
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,DISC1,27185,1,231990740,231990740,Missense_Mutation,SNP,A,G,c.(2236-2238)gAc>gGc,6,97,0,41
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TBCE,6905,1,235543434,235543434,Missense_Mutation,SNP,C,T,c.(70-72)Cgt>Tgt,8,389,1,126
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,GPR137B,7107,1,236368487,236368487,Missense_Mutation,SNP,C,G,c.(1027-1029)cCt>cGt,4,67,0,44
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,OPN3,23596,1,241761111,241761111,Silent,SNP,C,T,c.(880-882)tcG>tcA,6,144,0,104
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,KIF26B,55083,1,245849451,245849451,Missense_Mutation,SNP,G,A,c.(3166-3168)Gtg>Atg,6,136,0,114
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ACP1,52,2,272228,272228,Intron,SNP,G,A,,7,413,1,327
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MYCN,4613,2,16085972,16085972,Missense_Mutation,SNP,G,A,c.(1147-1149)cGc>cAc,6,331,0,290
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,APOB,338,2,21255380,21255380,Missense_Mutation,SNP,G,A,c.(1198-1200)Cgt>Tgt,6,322,0,312
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,KHK,3795,2,27320453,27320453,Missense_Mutation,SNP,G,A,c.(499-501)cGg>cAg,8,443,0,388
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,FAM179A,165186,2,29222092,29222092,Missense_Mutation,SNP,C,T,c.(184-186)cCg>cTg,5,87,0,95
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HEATR5B,54497,2,37234336,37234336,Missense_Mutation,SNP,G,A,c.(4633-4635)aCg>aTg,8,325,0,264
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,FAM161A,84140,2,62074128,62074128,Intron,SNP,A,G,,6,103,0,39
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MEIS1,4211,2,66794712,66794712,Intron,SNP,G,A,,6,253,0,232
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,LBX2,85474,2,74726451,74726451,Intron,SNP,G,A,,4,85,0,87
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MAP4K4,9448,2,102501713,102501713,Nonsense_Mutation,SNP,G,A,c.(3148-3150)tgG>tgA,5,76,0,45
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NT5DC4,284958,2,113481666,113481666,Intron,SNP,G,C,,5,131,0,104
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PTPN18,26469,2,131119812,131119812,Intron,SNP,A,G,,4,61,0,45
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,UBXN4,23190,2,136505239,136505239,Intron,SNP,G,C,,6,135,0,63
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NEB,4703,2,152353511,152353511,Intron,SNP,G,A,,7,301,0,220
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NEB,4703,2,152404848,152404848,Missense_Mutation,SNP,G,A,c.(15028-15030)Cgg>Tgg,5,185,0,212
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PRPF40A,55660,2,153515650,153515650,Silent,SNP,T,C,c.(2461-2463)tcA>tcG,15,136,0,119
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,UPP2,151531,2,158872354,158872354,Missense_Mutation,SNP,G,T,c.(103-105)Gtc>Ttc,7,222,0,98
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TTN,7273,2,179516983,179516983,Intron,SNP,G,T,,43,186,0,195
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TTN,7273,2,179614522,179614522,Intron,SNP,T,C,,14,113,0,103
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MDH1B,130752,2,207625672,207625672,Missense_Mutation,SNP,G,T,c.(88-90)Cct>Act,7,58,0,47
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RPE,6120,2,210882593,210882593,Intron,SNP,T,C,,7,69,0,25
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,FN1,2335,2,216286962,216286962,Silent,SNP,G,A,c.(1396-1398)caC>caT,6,274,0,297
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SLC11A1,6556,2,219250158,219250158,Intron,SNP,G,C,,7,279,0,141
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,UGT1A3,54659,2,234638588,234638588,Silent,SNP,C,T,c.(814-816)aaC>aaT,6,104,0,129
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SSUH2,51066,3,8667231,8667231,Silent,SNP,C,T,c.(802-804)tcG>tcA,4,72,0,69
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NR2C2,7182,3,15045440,15045440,Missense_Mutation,SNP,C,T,c.(19-21)Cgc>Tgc,6,169,0,104
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SETD2,29072,3,47147188,47147188,Intron,SNP,A,T,,6,153,0,73
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SETD2,29072,3,47147222,47147222,Intron,SNP,G,A,,5,76,0,42
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SETD2,29072,3,47147250,47147250,Intron,SNP,A,G,,6,41,0,29
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,COL7A1,1294,3,48630127,48630127,Silent,SNP,G,A,c.(850-852)aaC>aaT,7,383,1,476
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CELSR3,1951,3,48677727,48677727,Silent,SNP,G,A,c.(9289-9291)agC>agT,6,280,0,202
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,STAB1,23166,3,52538857,52538857,Missense_Mutation,SNP,G,A,c.(1342-1344)Ggg>Agg,5,169,0,139
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ITIH1,3697,3,52818443,52818443,Missense_Mutation,SNP,G,A,c.(1357-1359)Gga>Aga,5,102,0,113
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TBC1D23,55773,3,100002604,100002604,Missense_Mutation,SNP,G,A,c.(424-426)cGc>cAc,8,66,0,83
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ATG3,64422,3,112253046,112253046,Intron,SNP,C,T,,4,45,0,31
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HGD,3081,3,120352089,120352089,Missense_Mutation,SNP,G,A,c.(1093-1095)Cac>Tac,5,237,0,260
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SLC12A8,84561,3,124906231,124906231,Silent,SNP,G,A,c.(238-240)ttC>ttT,7,225,0,156
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ISY1,57461,3,128877400,128877400,Missense_Mutation,SNP,G,A,c.(28-30)aCg>aTg,5,217,0,155
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ACAD11,84129,3,132358500,132358500,Splice_Site,SNP,C,A,c.(538-540)Gta>Tta,14,98,0,107
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,P2RY1,5028,3,152554274,152554274,Missense_Mutation,SNP,G,A,c.(703-705)Ggc>Agc,5,98,0,73
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,AC104472.1,0,3,155461316,155461316,Missense_Mutation,SNP,G,A,c.(76-78)Cgg>Tgg,7,211,0,74
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,FXR1,8087,3,180685962,180685962,Missense_Mutation,SNP,G,A,c.(1321-1323)cGc>cAc,7,320,0,230
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,LSG1,55341,3,194369435,194369435,Silent,SNP,C,T,c.(1516-1518)tcG>tcA,4,79,0,106
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PCYT1A,5130,3,195965762,195965762,Missense_Mutation,SNP,G,A,c.(901-903)Cat>Tat,3,9,0,19
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TM4SF19,116211,3,196046881,196046881,Intron,SNP,T,C,,5,26,0,23
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZNF595,152687,4,86588,86588,3'UTR,SNP,T,C,,4,86,0,94
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,EVC2,132884,4,5624521,5624521,Silent,SNP,G,A,c.(2242-2244)acC>acT,7,639,0,421
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,EVC2,132884,4,5687173,5687173,Missense_Mutation,SNP,G,A,c.(739-741)aCg>aTg,7,192,0,145
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CC2D2A,57545,4,15518339,15518339,Missense_Mutation,SNP,A,G,c.(1108-1110)gAg>gGg,13,92,0,120
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SEPSECS,51091,4,25161274,25161274,Intron,SNP,G,A,,4,23,0,17
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ATP10D,57205,4,47574900,47574900,Silent,SNP,C,T,c.(3250-3252)gcC>gcT,4,77,0,68
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,DCUN1D4,23142,4,52753298,52753298,Intron,SNP,C,T,,9,166,1,70
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,KDR,3791,4,55956221,55956221,Nonsense_Mutation,SNP,G,A,c.(3094-3096)Cga>Tga,20,142,0,210
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,YTHDC1,91746,4,69195720,69195720,Splice_Site,SNP,C,T,c.(1348-1350)aGg>aAg,4,38,0,42
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TENM3,55714,4,183664379,183664379,Missense_Mutation,SNP,G,A,c.(3436-3438)Gtg>Atg,4,80,0,75
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SLC9A3,6550,5,481673,481673,Intron,SNP,C,T,,6,165,0,105
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RP11-43F13.3,0,5,989709,989709,RNA,SNP,G,A,,4,28,0,17
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CTNND2,1501,5,10992711,10992711,Missense_Mutation,SNP,G,A,c.(3163-3165)Cgc>Tgc,6,238,0,244
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PDZD2,23037,5,32089374,32089374,Silent,SNP,C,T,c.(5818-5820)caC>caT,4,101,0,83
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CARD6,84674,5,40860138,40860138,Missense_Mutation,SNP,G,C,c.(880-882)Gtt>Ctt,5,179,0,101
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZNF131,7690,5,43120115,43120115,5'Flank,SNP,A,G,,6,33,0,35
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CENPK,64105,5,64847002,64847002,Intron,SNP,G,A,,6,214,0,91
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MARVELD2,153562,5,68715385,68715385,Missense_Mutation,SNP,G,A,c.(172-174)gGc>gAc,4,44,0,55
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SERF1B,728492,5,69325696,69325696,Intron,SNP,T,C,,12,81,0,158
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,Unknown,0,5,126187472,126187472,IGR,SNP,C,T,,5,186,0,163
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PCDHA9,9752,5,140228408,140228408,Missense_Mutation,SNP,G,A,c.(328-330)Gta>Ata,6,247,1,279
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RARS,5917,5,167915282,167915282,Intron,SNP,G,A,,5,27,0,13
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HK3,3101,5,176315798,176315798,Missense_Mutation,SNP,G,A,c.(982-984)Cgg>Tgg,6,189,0,174
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HUS1B,135458,6,656697,656697,Missense_Mutation,SNP,G,A,c.(247-249)aCg>aTg,5,172,0,82
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,WRNIP1,56897,6,2768927,2768927,Silent,SNP,C,T,c.(823-825)acC>acT,4,16,0,28
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,OFCC1,266553,6,9900677,9900677,Missense_Mutation,SNP,C,T,c.(592-594)aGt>aAt,5,79,0,76
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,C6orf52,347744,6,10672842,10672842,Intron,SNP,T,C,,7,286,0,144
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ATXN1,6310,6,16327703,16327703,Missense_Mutation,SNP,G,A,c.(838-840)aCg>aTg,5,92,0,63
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,BTN2A2,10385,6,26385503,26385503,Missense_Mutation,SNP,G,A,c.(355-357)Gtc>Atc,7,215,0,159
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,EHMT2,10919,6,31852168,31852168,Splice_Site,SNP,C,T,c.e21+1,4,74,0,60
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZFAND3,60685,6,37971462,37971462,Intron,SNP,T,A,,4,19,0,12
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,USP49,25862,6,41766517,41766517,Silent,SNP,G,A,c.(1819-1821)caC>caT,5,259,0,226
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ANKRD66,100287718,6,46726612,46726612,Missense_Mutation,SNP,G,A,c.(709-711)aGt>aAt,4,69,0,57
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PHF3,23469,6,64422335,64422335,Silent,SNP,A,G,c.(4849-4851)agA>agG,16,137,0,130
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RARS2,57038,6,88274377,88274377,Intron,SNP,A,G,,4,69,0,19
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SIM1,6492,6,100901715,100901715,Missense_Mutation,SNP,C,T,c.(181-183)Ggc>Agc,14,99,0,99
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,BEND3,57673,6,107419785,107419785,Silent,SNP,G,A,c.(208-210)ccC>ccT,5,166,1,218
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RP11-307P5.1,0,6,148051129,148051129,lincRNA,SNP,A,G,,4,25,0,16
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,LATS1,9113,6,150005375,150005375,Missense_Mutation,SNP,C,T,c.(850-852)Gta>Ata,6,198,0,159
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PLG,5340,6,161162404,161162404,Missense_Mutation,SNP,G,A,c.(2080-2082)Gct>Act,5,159,1,175
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TCP10L2,401285,6,167592591,167592591,Silent,SNP,G,A,c.(748-750)acG>acA,6,137,0,125
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PDGFA,5154,7,550561,550561,Missense_Mutation,SNP,G,A,c.(337-339)aCg>aTg,7,294,0,136
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MICALL2,79778,7,1484855,1484855,Missense_Mutation,SNP,G,A,c.(850-852)cCg>cTg,7,521,0,292
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,INTS1,26173,7,1538109,1538109,Missense_Mutation,SNP,T,C,c.(1363-1365)aAc>aGc,68,339,0,270
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ELFN1,392617,7,1785952,1785952,Missense_Mutation,SNP,G,A,c.(1720-1722)Gac>Aac,5,201,0,119
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,FERD3L,222894,7,19184754,19184754,Missense_Mutation,SNP,C,T,c.(232-234)Gag>Aag,4,39,0,39
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HOXA4,3201,7,27168950,27168950,Missense_Mutation,SNP,G,A,c.(856-858)tCg>tTg,7,276,0,172
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,GHRHR,2692,7,31014112,31014112,Intron,SNP,G,A,,6,390,0,252
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZNF727,442319,7,63538824,63538824,Missense_Mutation,SNP,G,A,c.(1396-1398)aGc>aAc,6,144,0,91
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,KCTD7,154881,7,66238696,66238696,Silent,SNP,T,A,c.(196-198)ccT>ccA,7,338,1,149
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NCF1,653361,7,74192714,74192714,Intron,SNP,C,T,,11,187,1,88
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SEMA3D,223117,7,84628767,84628767,Missense_Mutation,SNP,C,T,c.(2323-2325)Gta>Ata,5,57,0,64
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MUC17,140453,7,100675887,100675887,Missense_Mutation,SNP,A,G,c.(1189-1191)aAt>aGt,4,55,1,64
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TRIM56,81844,7,100734924,100734924,IGR,SNP,T,C,,9,69,0,32
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,LAMB1,3912,7,107566624,107566624,Intron,SNP,G,A,,4,40,0,36
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,METTL2B,55798,7,128142679,128142679,3'UTR,SNP,A,G,,6,191,0,75
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,METTL2B,55798,7,128142760,128142760,3'UTR,SNP,G,C,,4,23,0,29
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PLXNA4,91584,7,132070009,132070009,Intron,SNP,G,A,,5,97,0,65
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HIPK2,28996,7,139416331,139416331,Missense_Mutation,SNP,G,A,c.(502-504)aCg>aTg,6,279,0,192
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NOS3,4846,7,150699034,150699034,Missense_Mutation,SNP,G,A,c.(1627-1629)cGg>cAg,5,147,0,84
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NOS3,4846,7,150700465,150700465,Missense_Mutation,SNP,C,T,c.(1819-1821)Cgg>Tgg,5,51,0,37
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,AGAP3,116988,7,150815681,150815681,Missense_Mutation,SNP,G,A,c.(247-249)Gtg>Atg,5,285,0,141
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,UBE3C,9690,7,156957115,156957115,Intron,SNP,T,C,,6,228,1,168
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,FDFT1,2222,8,11659444,11659444,5'Flank,SNP,C,T,,4,85,0,77
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TNFRSF10B,8795,8,22878627,22878627,3'UTR,SNP,T,G,,36,405,1,455
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TRPA1,8989,8,72951187,72951187,Silent,SNP,G,A,c.(2206-2208)ctC>ctT,18,93,0,107
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TMEM70,54968,8,74891382,74891382,Intron,SNP,G,C,,5,97,0,35
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,IL7,3574,8,79659256,79659256,Intron,SNP,C,T,,5,145,0,81
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CA3,761,8,86358459,86358459,Missense_Mutation,SNP,C,T,c.(595-597)aCg>aTg,5,147,0,172
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,VPS13B,157680,8,100821672,100821672,Missense_Mutation,SNP,G,A,c.(8086-8088)Ggg>Agg,6,308,1,293
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,Unknown,0,8,101669991,101669991,IGR,SNP,T,C,,11,264,0,128
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NCALD,83988,8,102701569,102701569,Nonsense_Mutation,SNP,G,A,c.(550-552)Cag>Tag,6,234,0,155
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ADCY8,114,8,131812696,131812696,Missense_Mutation,SNP,A,T,c.(3034-3036)aaT>aaA,32,165,1,156
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ADCY8,114,8,131861837,131861837,Intron,SNP,G,C,,6,51,0,73
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,C8orf17,100507249,8,140944734,140944734,Missense_Mutation,SNP,C,T,c.(205-207)Cgg>Tgg,6,238,0,190
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TRAPPC9,83696,8,141461398,141461398,Silent,SNP,G,A,c.(73-75)atC>atT,6,159,0,203
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,LYNX1,66004,8,143857078,143857078,Silent,SNP,G,A,c.(85-87)aaC>aaT,6,325,0,212
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SMARCA2,6595,9,2086866,2086866,Missense_Mutation,SNP,G,A,c.(2563-2565)cGa>cAa,5,150,0,167
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RFX3,5991,9,3452320,3452320,Intron,SNP,T,G,,5,77,0,40
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PIP5K1B,8395,9,71509555,71509555,Splice_Site,SNP,G,A,c.e8+1,4,19,0,29
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PRKACG,5568,9,71628385,71628385,Silent,SNP,G,A,c.(622-624)ccC>ccT,6,215,0,187
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ERCC6L2,375748,9,98734209,98734209,5'Flank,SNP,C,T,,3,11,0,19
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CORO2A,7464,9,100889188,100889188,Intron,SNP,G,A,,3,10,0,9
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,COL27A1,85301,9,116980145,116980145,Intron,SNP,A,G,,6,69,0,72
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,GSN,2934,9,124091286,124091286,Missense_Mutation,SNP,G,A,c.(2032-2034)cGt>cAt,8,335,0,370
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,STOM,2040,9,124110342,124110342,Missense_Mutation,SNP,T,A,c.(610-612)cAg>cTg,24,149,0,129
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MAPKAP1,79109,9,128246871,128246871,Intron,SNP,G,A,,4,25,0,48
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,GARNL3,84253,9,130147337,130147337,Silent,SNP,C,T,c.(2299-2301)acC>acT,6,135,0,104
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,LAMC3,10319,9,133952688,133952688,Silent,SNP,G,A,c.(3742-3744)ccG>ccA,7,331,1,308
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,VAV2,7410,9,136804320,136804320,Missense_Mutation,SNP,G,A,c.(226-228)Cgc>Tgc,6,225,0,124
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SEC16A,9919,9,139342659,139342659,Missense_Mutation,SNP,A,G,c.(373-375)Tgg>Cgg,8,354,0,270
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SEC16A,9919,9,139342842,139342842,Missense_Mutation,SNP,C,T,c.(190-192)Gga>Aga,6,220,1,195
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NOTCH1,4851,9,139397535,139397535,Intron,SNP,C,T,,5,298,0,245
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PTGDS,5730,9,139874442,139874442,Missense_Mutation,SNP,G,A,c.(376-378)Gac>Aac,5,163,0,108
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CACNA1B,774,9,140943756,140943756,Silent,SNP,G,A,c.(3697-3699)gcG>gcA,7,173,0,144
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,GTPBP4,23560,10,1038477,1038477,Missense_Mutation,SNP,G,A,c.(97-99)Gtt>Att,6,174,0,130
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ASB13,79754,10,5694873,5694873,Nonsense_Mutation,SNP,G,A,c.(184-186)Cag>Tag,5,163,0,99
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TAF3,83860,10,8007105,8007105,Silent,SNP,G,A,c.(1630-1632)agG>agA,4,80,0,57
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,FRMD4A,55691,10,13699072,13699072,Silent,SNP,C,T,c.(2515-2517)ctG>ctA,7,251,0,101
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,WAC,51322,10,28897314,28897314,Silent,SNP,G,A,c.(1117-1119)acG>acA,6,191,0,145
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZNF33A,7581,10,38328374,38328374,Intron,SNP,T,C,,6,214,0,107
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RET,5979,10,43612095,43612095,Missense_Mutation,SNP,G,A,c.(2200-2202)Gaa>Aaa,7,268,0,173
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ASAH2B,653308,10,52502769,52502769,Splice_Site,SNP,C,T,c.(85-87)Cgt>Tgt,6,445,0,244
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,KCNMA1,3778,10,78704663,78704663,Missense_Mutation,SNP,C,T,c.(2770-2772)Gtt>Att,14,347,0,168
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,KCNMA1,3778,10,79397072,79397072,Missense_Mutation,SNP,G,A,c.(328-330)aCg>aTg,5,186,0,105
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZMIZ1,57178,10,81037024,81037024,Missense_Mutation,SNP,C,A,c.(367-369)Ctc>Atc,5,93,0,113
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PLCE1,51196,10,96012160,96012160,Missense_Mutation,SNP,G,A,c.(3184-3186)Gga>Aga,6,144,0,120
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NEURL,0,10,105348618,105348618,Intron,SNP,T,G,,8,137,1,64
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SLK,9748,10,105750522,105750522,Silent,SNP,T,A,c.(238-240)atT>atA,6,62,0,58
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,XPNPEP1,7511,10,111651484,111651484,Silent,SNP,C,T,c.(409-411)aaG>aaA,5,28,0,26
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HTRA1,5654,10,124248462,124248462,Missense_Mutation,SNP,G,A,c.(517-519)Gcg>Acg,8,359,0,311
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ACADSB,36,10,124802676,124802676,Missense_Mutation,SNP,G,A,c.(796-798)Gaa>Aaa,5,149,0,172
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,GPR26,2849,10,125426312,125426312,Missense_Mutation,SNP,C,T,c.(388-390)aCg>aTg,7,398,0,221
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MUC6,4588,11,1027402,1027402,Silent,SNP,G,A,c.(2095-2097)gaC>gaT,8,612,0,423
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZNF195,7748,11,3383020,3383020,Missense_Mutation,SNP,T,C,c.(325-327)aAc>aGc,8,199,0,103
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZNF195,7748,11,3388131,3388131,Intron,SNP,T,C,,6,174,0,98
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,OR52B2,255725,11,6191110,6191110,Silent,SNP,G,A,c.(445-447)gcC>gcT,7,228,0,186
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TEAD1,7003,11,12923486,12923486,Splice_Site,SNP,G,C,c.e5-1,5,139,0,115
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HPS5,11234,11,18313336,18313336,Missense_Mutation,SNP,T,A,c.(2092-2094)aAt>aTt,9,44,0,55
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SLC5A12,159963,11,26720079,26720079,Silent,SNP,G,A,c.(823-825)gcC>gcT,4,58,0,65
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ABTB2,25841,11,34218896,34218896,Missense_Mutation,SNP,G,A,c.(1219-1221)cCg>cTg,7,121,0,83
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,LRRC4C,57689,11,40136680,40136680,Missense_Mutation,SNP,G,A,c.(1162-1164)aCt>aTt,4,77,0,113
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,LRP4,4038,11,46916738,46916738,Missense_Mutation,SNP,G,A,c.(1288-1290)Cgg>Tgg,6,393,0,357
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,FTH1,2495,11,61734832,61734832,Silent,SNP,G,A,c.(64-66)aaC>aaT,8,636,0,385
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,INCENP,3619,11,61914348,61914348,Silent,SNP,G,A,c.(2176-2178)cgG>cgA,9,871,0,394
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,AHNAK,79026,11,62259234,62259234,Missense_Mutation,SNP,C,T,c.(412-414)Ggg>Agg,5,206,0,140
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PYGM,5837,11,64525250,64525250,Splice_Site,SNP,C,T,c.e5+1,6,326,0,319
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PELI3,246330,11,66243605,66243605,Silent,SNP,C,T,c.(1375-1377)tgC>tgT,6,224,0,171
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ADRBK1,156,11,67051721,67051721,Missense_Mutation,SNP,C,T,c.(1531-1533)Ctc>Ttc,5,124,0,138
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TBC1D10C,374403,11,67177035,67177035,Missense_Mutation,SNP,G,A,c.(1150-1152)cGa>cAa,8,412,0,303
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NUDT8,254552,11,67396474,67396474,Silent,SNP,C,T,c.(241-243)acG>acA,23,136,0,109
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CPT1A,1374,11,68542787,68542787,Silent,SNP,C,T,c.(1570-1572)ggG>ggA,4,63,0,73
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RP11-849H4.2,0,11,71628252,71628252,3'UTR,SNP,A,G,,4,40,0,12
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,KDM4E,390245,11,94759407,94759407,Missense_Mutation,SNP,C,T,c.(685-687)cCa>cTa,6,207,0,222
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,C11orf88,399949,11,111385711,111385711,Missense_Mutation,SNP,C,T,c.(202-204)Cgg>Tgg,4,101,0,135
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PIH1D2,120379,11,111943870,111943870,Missense_Mutation,SNP,G,A,c.(28-30)aCc>aTc,5,46,0,40
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,KMT2A,4297,11,118309803,118309803,Intron,SNP,C,T,,5,193,0,95
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,FOXRED1,55572,11,126146067,126146067,Silent,SNP,G,A,c.(922-924)ccG>ccA,5,250,1,223
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,KIRREL3,84623,11,126310297,126310297,Intron,SNP,G,A,,6,207,0,188
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NANOGNB,360030,12,7917916,7917916,Missense_Mutation,SNP,C,T,c.(34-36)cCa>cTa,6,110,0,56
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SLC2A3,6515,12,8074210,8074210,Silent,SNP,G,A,c.(1288-1290)taC>taT,5,158,0,185
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,A2ML1,144568,12,8975781,8975781,Silent,SNP,C,T,c.(64-66)aaC>aaT,4,32,0,26
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PRB1,5542,12,11506290,11506290,Missense_Mutation,SNP,G,C,c.(346-348)aaC>aaG,6,305,1,224
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,DDX11,1663,12,31242153,31242153,Intron,SNP,T,C,,4,32,0,58
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PKP2,5318,12,32996158,32996158,Missense_Mutation,SNP,G,A,c.(1468-1470)Cgg>Tgg,5,63,0,48
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PFKM,5213,12,48527221,48527221,Missense_Mutation,SNP,G,A,c.(550-552)cGg>cAg,6,286,0,297
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,DDN,23109,12,49390613,49390613,Silent,SNP,C,T,c.(2044-2046)gaG>gaA,5,178,0,142
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ATF1,466,12,51182069,51182069,Intron,SNP,A,G,,6,116,0,42
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SLC4A8,9498,12,51873922,51873922,Silent,SNP,C,A,c.(2158-2160)tcC>tcA,6,24,0,25
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HOXC4,3221,12,54447746,54447746,Missense_Mutation,SNP,G,A,c.(40-42)Gat>Aat,4,60,0,84
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MARS,4141,12,57894212,57894212,Silent,SNP,C,T,c.(1198-1200)ttC>ttT,7,346,0,292
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HELB,92797,12,66717888,66717888,Missense_Mutation,SNP,G,A,c.(2422-2424)aGt>aAt,5,149,0,136
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SSH1,54434,12,109230744,109230744,Intron,SNP,T,C,,6,188,0,78
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MMAB,326625,12,109993215,109993215,3'UTR,SNP,A,G,,4,26,0,30
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MMAB,326625,12,109993351,109993351,3'UTR,SNP,G,A,,4,29,0,21
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MMAB,326625,12,110007819,110007819,Intron,SNP,G,C,,4,23,0,18
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CUX2,23316,12,111785793,111785793,Silent,SNP,G,A,c.(4123-4125)ccG>ccA,9,312,0,229
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TBX5,6910,12,114836480,114836480,Silent,SNP,G,A,c.(406-408)taC>taT,9,275,0,246
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,GCN1L1,10985,12,120575427,120575427,Silent,SNP,C,T,c.(6583-6585)tcG>tcA,7,266,1,212
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CLIP1,6249,12,122812489,122812489,Intron,SNP,C,T,,5,85,1,86
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NCOR2,9612,12,124915216,124915216,Missense_Mutation,SNP,C,T,c.(1000-1002)Gag>Aag,5,122,0,53
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,VWA8,23078,13,42303745,42303745,Silent,SNP,C,T,c.(2569-2571)acG>acA,5,131,0,81
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SIAH3,283514,13,46357639,46357639,Missense_Mutation,SNP,G,A,c.(688-690)aCg>aTg,5,283,0,199
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PCDH17,27253,13,58207469,58207469,Silent,SNP,C,T,c.(787-789)atC>atT,6,184,0,193
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,UBAC2,337867,13,99886664,99886664,Intron,SNP,A,G,,4,42,0,24
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CLYBL,171425,13,100529905,100529905,Intron,SNP,C,A,,5,51,0,31
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CDH24,64403,14,23517547,23517547,Missense_Mutation,SNP,G,A,c.(2101-2103)aCg>aTg,6,465,0,243
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,KHNYN,23351,14,24901991,24901991,Silent,SNP,C,T,c.(1411-1413)gaC>gaT,6,290,0,228
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SCFD1,23256,14,31107420,31107420,Silent,SNP,G,A,c.(400-402)gcG>gcA,5,132,0,96
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HECTD1,25831,14,31578619,31578619,Missense_Mutation,SNP,C,T,c.(6463-6465)cGg>cAg,7,129,0,132
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CLEC14A,161198,14,38725035,38725035,Missense_Mutation,SNP,G,A,c.(193-195)Cgt>Tgt,5,184,0,132
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,C14orf182,283551,14,50472373,50472373,Nonsense_Mutation,SNP,G,A,c.(145-147)Cga>Tga,6,101,0,96
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ATL1,51062,14,51058251,51058251,Splice_Site,SNP,A,T,c.e4-1,8,43,0,55
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,FNTB,2342,14,65521305,65521305,Silent,SNP,C,T,c.(1078-1080)ttC>ttT,5,88,0,72
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,LTBP2,4053,14,74973455,74973455,Missense_Mutation,SNP,G,A,c.(3979-3981)Cgc>Tgc,6,448,1,399
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,OTUB2,78990,14,94512257,94512257,Missense_Mutation,SNP,G,A,c.(694-696)Gat>Aat,5,98,0,129
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PPP4R4,57718,14,94640916,94640916,Silent,SNP,C,G,c.(112-114)ctC>ctG,9,136,0,77
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HHIPL1,84439,14,100123446,100123446,Missense_Mutation,SNP,G,A,c.(1012-1014)Gac>Aac,5,104,0,115
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,DYNC1H1,1778,14,102460613,102460613,Silent,SNP,G,A,c.(3106-3108)tcG>tcA,7,188,1,165
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,XRCC3,7517,14,104173476,104173476,Silent,SNP,G,A,c.(268-270)gaC>gaT,8,529,0,281
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,AHNAK2,113146,14,105411502,105411502,Missense_Mutation,SNP,A,G,c.(10285-10287)gTc>gCc,10,287,0,294
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TMEM121,80757,14,105995931,105995931,Missense_Mutation,SNP,G,A,c.(760-762)Gtg>Atg,6,317,0,211
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,IGHG4,3503,14,106092151,106092151,RNA,SNP,C,T,,6,232,0,254
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,KLF13,51621,15,31664378,31664378,Missense_Mutation,SNP,G,A,c.(742-744)cGc>cAc,6,271,0,123
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,KNSTRN,90417,15,40681457,40681457,Intron,SNP,A,C,,8,52,0,35
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CASC5,57082,15,40903046,40903046,Silent,SNP,T,C,c.(298-300)ttT>ttC,6,284,0,108
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,UBR1,197131,15,43384189,43384189,Intron,SNP,T,C,,6,350,0,112
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PPIP5K1,9677,15,43828338,43828338,Intron,SNP,T,C,,5,131,1,50
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SECISBP2L,9728,15,49284435,49284435,3'UTR,SNP,C,T,,4,17,0,24
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,VPS13C,54832,15,62160938,62160938,Missense_Mutation,SNP,G,A,c.(10783-10785)Cgt>Tgt,6,174,0,185
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,IGDCC3,9543,15,65623007,65623007,Missense_Mutation,SNP,G,A,c.(1633-1635)cCc>cTc,5,248,0,188
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,STRA6,64220,15,74500033,74500033,Intron,SNP,C,T,,5,128,0,102
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NEIL1,79661,15,75643665,75643665,Intron,SNP,A,G,,5,101,0,70
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TSPAN3,10099,15,77348521,77348521,Missense_Mutation,SNP,T,C,c.(139-141)gAt>gGt,4,115,0,81
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ADAMTS7,11173,15,79060555,79060555,Silent,SNP,G,A,c.(2563-2565)ccC>ccT,6,273,0,173
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,C15orf40,123207,15,83677168,83677168,Intron,SNP,A,G,,4,26,0,30
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TICRR,90381,15,90168424,90168424,Missense_Mutation,SNP,G,A,c.(4882-4884)cGc>cAc,5,70,0,80
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,C16orf71,146562,16,4790526,4790526,Missense_Mutation,SNP,C,T,c.(649-651)Cgg>Tgg,5,166,0,145
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ERI2,112479,16,20818378,20818378,5'Flank,SNP,G,A,,5,160,0,112
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,COG7,91949,16,23400418,23400418,Intron,SNP,G,A,,5,192,0,189
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RBBP6,5930,16,24573339,24573339,Silent,SNP,G,A,c.(1144-1146)ccG>ccA,7,268,0,179
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PRR14,78994,16,30663647,30663647,Intron,SNP,A,G,,7,256,0,129
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,FUS,2521,16,31204452,31204452,IGR,SNP,G,A,,4,46,1,68
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,FUS,2521,16,31205252,31205252,IGR,SNP,C,G,,7,180,0,117
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ORC6,23594,16,46731797,46731797,3'UTR,SNP,T,C,,4,48,0,59
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,COG8,84342,16,69369066,69369066,Silent,SNP,G,A,c.(769-771)tcC>tcT,5,170,0,145
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ANKRD11,29123,16,89350752,89350752,Missense_Mutation,SNP,C,T,c.(2197-2199)cGa>cAa,6,342,0,308
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZZEF1,23140,17,3917779,3917779,Missense_Mutation,SNP,G,A,c.(8176-8178)Ctc>Ttc,5,127,0,119
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SPNS2,124976,17,4436716,4436716,Missense_Mutation,SNP,G,A,c.(1267-1269)Gta>Ata,5,87,0,84
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,C1QBP,708,17,5334635,5334635,IGR,SNP,T,C,,5,27,0,17
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MYH13,8735,17,10209843,10209843,Missense_Mutation,SNP,C,T,c.(5398-5400)cGt>cAt,5,175,0,162
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SLC47A1,55244,17,19481359,19481359,3'UTR,SNP,G,A,,7,204,0,120
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MMP28,79148,17,34106046,34106046,Silent,SNP,G,A,c.(223-225)agC>agT,5,136,0,157
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ACACA,31,17,35506894,35506894,Missense_Mutation,SNP,G,A,c.(5461-5463)aCg>aTg,5,165,0,149
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,WNK4,65266,17,40945932,40945932,Intron,SNP,A,G,,5,38,0,37
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,LUC7L3,51747,17,48823216,48823216,Missense_Mutation,SNP,G,A,c.(829-831)Gaa>Aaa,10,380,0,125
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,10-Mar,162333,17,60788663,60788663,Silent,SNP,G,A,c.(2257-2259)Ctg>Ttg,5,207,0,142
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SCN4A,6329,17,62022785,62022785,Missense_Mutation,SNP,G,A,c.(3655-3657)Cgc>Tgc,23,89,0,87
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MILR1,284021,17,62464431,62464431,3'UTR,SNP,A,G,,6,235,0,92
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PRKAR1A,5573,17,66531929,66531929,IGR,SNP,T,C,,5,62,0,31
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MYO15B,80022,17,73598667,73598667,Missense_Mutation,SNP,C,A,c.(70-72)Cag>Aag,5,5,0,20
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,AZI1,0,17,79173229,79173229,Missense_Mutation,SNP,G,A,c.(1144-1146)Ccc>Tcc,5,208,0,160
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CETN1,1068,18,580509,580509,Missense_Mutation,SNP,G,A,c.(100-102)cGg>cAg,5,172,0,170
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ADCYAP1,116,18,905398,905398,Missense_Mutation,SNP,G,A,c.(10-12)tGt>tAt,5,115,0,86
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,IMPA2,3613,18,12017656,12017656,Intron,SNP,T,C,,4,30,0,23
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TNFRSF11A,8792,18,60021679,60021679,Silent,SNP,G,A,c.(337-339)gcG>gcA,6,394,0,214
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TSHZ1,10194,18,72999781,72999781,Missense_Mutation,SNP,G,A,c.(2419-2421)Gac>Aac,5,100,0,130
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZNF516,9658,18,74154009,74154009,Silent,SNP,G,A,c.(1000-1002)taC>taT,7,419,0,360
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,BSG,682,19,579017,579017,Intron,SNP,T,A,,5,127,0,99
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MEX3D,399664,19,1556342,1556342,Silent,SNP,C,T,c.(1174-1176)ggG>ggA,5,42,0,38
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MBD3,53615,19,1575265,1575265,IGR,SNP,T,C,,10,111,1,45
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TLE2,7089,19,3045793,3045793,5'UTR,SNP,T,C,,5,61,0,37
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TBXA2R,6915,19,3594983,3594983,3'UTR,SNP,C,T,,6,132,0,100
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HDGFRP2,0,19,4496940,4496940,Intron,SNP,A,G,,6,78,0,47
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HDGFRP2,0,19,4496957,4496957,Intron,SNP,G,A,,5,65,0,36
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HDGFRP2,0,19,4496964,4496964,Intron,SNP,G,A,,6,55,0,34
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CATSPERD,257062,19,5753529,5753529,Intron,SNP,C,T,,4,20,0,19
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CATSPERD,257062,19,5772262,5772262,Intron,SNP,A,G,,9,25,0,25
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NDUFA11,126328,19,5893211,5893211,IGR,SNP,A,G,,5,160,0,122
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SNAPC2,6618,19,7986433,7986433,Intron,SNP,G,A,,4,24,0,33
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CCDC105,126402,19,15121865,15121865,Silent,SNP,G,A,c.(226-228)gaG>gaA,7,189,0,185
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ILVBL,10994,19,15226884,15226884,Splice_Site,SNP,T,C,c.e13-2,23,155,0,141
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,KCNN1,3780,19,18085004,18085004,Missense_Mutation,SNP,C,T,c.(307-309)Cgg>Tgg,5,160,0,125
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZNF93,81931,19,20044933,20044933,Missense_Mutation,SNP,T,G,c.(1168-1170)gTt>gGt,6,71,0,94
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZNF626,199777,19,20808006,20808006,Missense_Mutation,SNP,T,C,c.(676-678)gAg>gGg,5,176,1,157
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZNF714,148206,19,21300739,21300739,Silent,SNP,C,T,c.(1267-1269)ctC>ctT,6,195,1,175
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZNF43,7594,19,21991453,21991453,Silent,SNP,G,A,c.(1384-1386)gcC>gcT,5,195,0,180
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RP11-15H20.6,0,19,23445175,23445175,RNA,SNP,C,T,,5,139,0,72
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZNF91,7644,19,23542628,23542628,Silent,SNP,C,T,c.(3151-3153)aaG>aaA,7,102,0,113
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZNF91,7644,19,23542634,23542634,Silent,SNP,A,G,c.(3145-3147)ccT>ccC,5,109,0,115
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZNF91,7644,19,23544157,23544157,Missense_Mutation,SNP,T,C,c.(1624-1626)Aga>Gga,5,107,0,102
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,POP4,10775,19,30102772,30102772,Silent,SNP,C,T,c.(286-288)taC>taT,7,127,0,91
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SBSN,374897,19,36018957,36018957,Missense_Mutation,SNP,C,T,c.(226-228)gGg>gAg,5,118,0,83
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,AC092295.7,0,19,37068146,37068146,RNA,SNP,A,G,,5,111,1,75
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MAP3K10,4294,19,40719840,40719840,Missense_Mutation,SNP,G,A,c.(2254-2256)Gtg>Atg,7,251,0,115
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PPP5D1,100506012,19,47023082,47023082,Missense_Mutation,SNP,A,C,c.(505-507)Tta>Gta,6,166,0,68
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,KPTN,11133,19,47980995,47980995,Silent,SNP,C,T,c.(829-831)gtG>gtA,6,316,1,191
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,C19orf68,374920,19,48685926,48685926,Missense_Mutation,SNP,G,A,c.(490-492)Gtg>Atg,8,498,0,243
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,GRWD1,83743,19,48953693,48953693,Missense_Mutation,SNP,C,T,c.(592-594)Cgg>Tgg,6,484,0,361
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TRPM4,54795,19,49713663,49713663,Splice_Site,SNP,G,A,c.e21+1,6,164,0,121
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TRPM4,54795,19,49714340,49714340,Missense_Mutation,SNP,G,A,c.(3529-3531)cGg>cAg,6,313,0,248
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SHANK1,50944,19,51170079,51170079,Missense_Mutation,SNP,C,T,c.(5137-5139)gGg>gAg,7,209,0,197
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,GPR32,2854,19,51274092,51274092,Missense_Mutation,SNP,G,A,c.(235-237)Gtc>Atc,5,100,0,117
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZNF331,55422,19,54081110,54081110,Silent,SNP,G,A,c.(1294-1296)acG>acA,6,92,0,109
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PTPRH,5794,19,55703226,55703226,Intron,SNP,C,T,,5,252,0,241
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZFP28,140612,19,57066673,57066673,Missense_Mutation,SNP,C,T,c.(2518-2520)tCa>tTa,9,91,0,79
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZNF814,730051,19,58385832,58385832,Missense_Mutation,SNP,A,G,c.(925-927)gTt>gCt,4,70,0,92
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RBCK1,10616,20,400351,400351,Silent,SNP,G,A,c.(730-732)gaG>gaA,5,209,0,108
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RRBP1,6238,20,17617292,17617292,Missense_Mutation,SNP,G,A,c.(2266-2268)aCg>aTg,6,333,0,190
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,GINS1,9837,20,25400363,25400363,Intron,SNP,T,A,,4,28,0,9
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ITCH,83737,20,33004959,33004959,Missense_Mutation,SNP,A,G,c.(511-513)aAt>aGt,11,310,0,102
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CPNE1,8904,20,34220234,34220234,Splice_Site,SNP,G,A,c.(382-384)aCg>aTg,7,172,0,205
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,DLGAP4,22839,20,35155329,35155329,Silent,SNP,G,A,c.(2872-2874)aaG>aaA,8,361,1,165
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SEMG2,6407,20,43850376,43850376,Missense_Mutation,SNP,G,C,c.(103-105)Gga>Cga,4,30,0,29
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MATN4,8785,20,43926668,43926668,Missense_Mutation,SNP,G,A,c.(1591-1593)gCg>gTg,7,388,0,223
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SULF2,55959,20,46313307,46313307,Silent,SNP,G,A,c.(754-756)taC>taT,5,112,0,92
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,GNAS,2778,20,57474025,57474025,Missense_Mutation,SNP,G,A,c.(241-243)aGg>aAg,7,444,0,255
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ARFGAP1,55738,20,61910658,61910658,Intron,SNP,G,A,,5,78,0,36
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,DSCAM,1826,21,42080667,42080667,Missense_Mutation,SNP,T,C,c.(73-75)tAc>tGc,4,39,0,60
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PKNOX1,5316,21,44452249,44452249,3'UTR,SNP,T,C,,5,99,0,36
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ATP6V1E1,529,22,18101798,18101798,Intron,SNP,A,G,,7,203,0,104
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,AIFM3,150209,22,21331372,21331372,Missense_Mutation,SNP,G,A,c.(1270-1272)Gtg>Atg,8,236,0,181
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CYP2D7P1,0,22,42539504,42539504,RNA,SNP,C,T,,9,1167,1,662
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RRP7A,27341,22,42912358,42912358,Intron,SNP,T,A,,6,87,0,79
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SBF1,6305,22,50902830,50902830,Silent,SNP,G,A,c.(1675-1677)agC>agT,4,108,0,72
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SHANK3,85358,22,51158695,51158695,Missense_Mutation,SNP,G,A,c.(2392-2394)Ggc>Agc,6,240,0,123
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CSF2RA,1438,X,1428517,1428517,3'UTR,SNP,C,T,,6,128,0,100
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZFX,7543,X,24191755,24191755,Intron,SNP,C,T,,5,103,1,49
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,DYNLT3,6990,X,37696531,37696531,IGR,SNP,A,G,,4,25,0,8
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SYP,6855,X,49049885,49049885,Missense_Mutation,SNP,C,A,c.(457-459)tgG>tgT,5,95,0,96
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SHROOM4,57477,X,50334919,50334919,3'UTR,SNP,G,A,,4,23,0,25
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ARMCX6,54470,X,100871489,100871489,Missense_Mutation,SNP,C,T,c.(121-123)gGg>gAg,5,106,0,54
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NKRF,55922,X,118723680,118723680,Missense_Mutation,SNP,C,T,c.(1708-1710)Ggt>Agt,4,36,0,52
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,XIAP,331,X,123047048,123047048,3'UTR,SNP,A,G,,5,102,0,64
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,HMGB3,3149,X,150154190,150154190,Missense_Mutation,SNP,G,A,c.(118-120)Gaa>Aaa,4,50,0,57
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,GABRA3,2556,X,151424460,151424460,Missense_Mutation,SNP,A,G,c.(340-342)aTt>aCt,26,51,0,75
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MAGEA3,4102,X,151935417,151935417,Silent,SNP,G,A,c.(748-750)ttC>ttT,12,32,0,52
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,PLXNA3,55558,X,153692004,153692004,Silent,SNP,G,A,c.(1516-1518)ccG>ccA,5,212,0,129
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,UTY,7404,Y,15435080,15435080,Intron,SNP,A,C,,4,18,0,9
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RIMS3,9783,1,41094384,41094385,Intron,INS,-,T,,1,49,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NBPF10,100132406,1,145367727,145367729,In_Frame_Del,DEL,GGG,-,c.(10321-10326)aagggg>aag,42,142,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NIT1,4817,1,161089220,161089221,Intron,INS,-,T,,3,20,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NEB,4703,2,152490167,152490168,Intron,INS,-,T,,10,15,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NBEAL2,23218,3,47046464,47046464,Frame_Shift_Del,DEL,C,-,c.(6295-6297)ttcfs,25,73,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,Unknown,0,5,110285503,110285504,IGR,INS,-,TC,,9,50,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TDRD6,221400,6,46659702,46659702,Frame_Shift_Del,DEL,A,-,c.(3835-3837)agafs,7,27,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,16,27,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SLC4A2,6522,7,150769278,150769279,Intron,INS,-,G,,1,10,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NRG1,3084,8,32607160,32607160,Intron,DEL,T,-,,7,9,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CTNNAL1,8727,9,111717983,111717987,Intron,DEL,GGTAG,-,,6,137,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,NOTCH1,4851,9,139402481,139402481,Frame_Shift_Del,DEL,C,-,c.(3436-3438)gtgfs,51,359,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,CDC123,8872,10,12277184,12277185,Intron,INS,-,A,,10,29,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RET,5979,10,43615375,43615375,Intron,DEL,T,-,,0,6,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TNNI2,7136,11,1862200,1862204,Intron,DEL,CGGGC,-,,3,112,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,BBS1,582,11,66297196,66297197,Intron,INS,-,T,,0,44,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,SLC17A8,246213,12,100811703,100811704,Intron,INS,-,T,,4,18,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,FNDC3A,22862,13,49772433,49772435,Intron,DEL,TAG,-,,0,12,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,TRAV18,28665,14,22470650,22470650,RNA,DEL,G,-,,12,15,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,ALOX12B,242,17,7976761,7976762,Intron,INS,-,C,,5,12,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MYH3,4621,17,10553118,10553119,Intron,INS,-,A,,5,9,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,LAMA1,284217,18,7025880,7025884,Intron,DEL,GTATT,-,,6,62,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,MYO5B,4645,18,47373764,47373765,Intron,INS,-,C,,4,40,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,RFXANK,8625,19,19308796,19308796,Intron,DEL,G,-,,4,13,,
RP-1532_PCProject_0136_T2_v4_Exome_OnPrem,FUT1,2523,19,49254370,49254371,Frame_Shift_Ins,INS,-,A,c.(166-171)tgcctgfs,1,23,,
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,PLEKHG5,57449,1,6528592,6528592,Silent,SNP,G,A,c.(2470-2472)gaC>gaT,6,424,0,185
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,TNFRSF8,943,1,12164563,12164563,Silent,SNP,G,A,c.(394-396)ccG>ccA,81,218,0,136
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,NBPF3,84224,1,21806613,21806613,Silent,SNP,A,G,c.(1276-1278)tcA>tcG,7,275,0,272
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,PTP4A2,8073,1,32379850,32379850,Intron,SNP,G,T,,5,165,0,104
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,YARS,8565,1,33246666,33246666,Missense_Mutation,SNP,T,C,c.(1123-1125)Atc>Gtc,46,192,0,214
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,PLK3,1263,1,45271271,45271271,Missense_Mutation,SNP,G,A,c.(1861-1863)cGg>cAg,7,514,0,177
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,FOXE3,2301,1,47882520,47882520,Missense_Mutation,SNP,C,T,c.(532-534)gCg>gTg,5,173,0,111
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,C1orf173,0,1,75038881,75038881,Missense_Mutation,SNP,C,T,c.(2512-2514)gGg>gAg,4,61,0,23
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,KCNC4,3749,1,110766400,110766400,Missense_Mutation,SNP,G,A,c.(1492-1494)cGg>cAg,5,175,0,71
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,NBPF8,728841,1,144168541,144168541,Intron,SNP,C,G,,4,123,0,17
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,TDRD10,126668,1,154516902,154516902,Nonsense_Mutation,SNP,C,T,c.(706-708)Cag>Tag,17,272,0,120
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,SPTA1,6708,1,158624539,158624539,Splice_Site,SNP,C,T,c.e21-1,36,140,0,133
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,LHX9,56956,1,197901052,197901052,IGR,SNP,G,A,,10,64,0,49
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,KCNH1,3756,1,210971017,210971017,Missense_Mutation,SNP,C,T,c.(1747-1749)cGg>cAg,6,393,0,157
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,LRP1B,53353,2,141259296,141259296,Missense_Mutation,SNP,C,T,c.(8809-8811)gGa>gAa,4,64,0,58
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,KIAA1715,80856,2,176805707,176805707,Intron,SNP,A,G,,4,121,0,75
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,CFLAR,8837,2,202007474,202007474,Intron,SNP,C,A,,3,10,0,9
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ADAMTS9,56999,3,64619163,64619163,Silent,SNP,G,T,c.(2158-2160)gtC>gtA,4,85,0,63
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,SLC9C1,285335,3,111886192,111886192,Missense_Mutation,SNP,T,C,c.(3238-3240)atA>atG,3,12,0,25
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,RP11-67L2.2,0,3,122605751,122605751,lincRNA,SNP,A,G,,4,49,0,25
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,RP11-67L2.2,0,3,122605752,122605752,lincRNA,SNP,A,G,,4,49,0,24
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,SLC7A14,57709,3,170218898,170218898,Splice_Site,SNP,C,T,c.(541-543)Ggg>Agg,53,105,0,85
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,SLC7A14,57709,3,170219097,170219097,Missense_Mutation,SNP,C,A,c.(340-342)aaG>aaT,62,141,0,131
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ALG3,10195,3,183957280,183957280,IGR,SNP,C,T,,5,119,0,56
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,CCDC158,339965,4,77292625,77292625,Missense_Mutation,SNP,C,T,c.(1093-1095)cGt>cAt,42,149,0,105
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,RP11-766F14.2,0,4,100571543,100571543,Silent,SNP,C,T,c.(4261-4263)ccG>ccA,5,216,0,114
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,VCAN,1462,5,82815436,82815436,Missense_Mutation,SNP,T,G,c.(1309-1311)gaT>gaG,4,118,0,122
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,FTMT,94033,5,121187857,121187857,Silent,SNP,C,A,c.(199-201)Cgg>Agg,25,83,0,49
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,FBN2,2201,5,127666313,127666313,Missense_Mutation,SNP,G,A,c.(4297-4299)Cgc>Tgc,6,349,0,245
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,PCDHA9,9752,5,140229541,140229541,Silent,SNP,C,T,c.(1459-1461)aaC>aaT,90,1387,0,489
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,PCDHA12,56137,5,140257102,140257102,Missense_Mutation,SNP,C,T,c.(2044-2046)gCc>gTc,207,544,0,283
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,SPINK5,11005,5,147481344,147481344,Splice_Site,SNP,G,C,c.(1303-1305)Gag>Cag,6,334,0,243
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,SLIT3,6586,5,168098421,168098421,Silent,SNP,G,A,c.(3907-3909)caC>caT,6,361,0,168
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,FLT4,2324,5,180056369,180056369,Missense_Mutation,SNP,G,T,c.(874-876)tCc>tAc,149,375,0,254
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,DPCR1,135656,6,30918839,30918839,Missense_Mutation,SNP,G,C,c.(2596-2598)tgG>tgC,5,353,0,262
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,AIF1,199,6,31583491,31583491,Silent,SNP,C,T,c.(130-132)ccC>ccT,5,182,0,111
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,POLH,5429,6,43581559,43581559,Silent,SNP,G,A,c.(1405-1407)gcG>gcA,4,80,0,77
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,BAI3,577,6,70065761,70065761,Intron,SNP,A,G,,6,29,0,25
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,CNR1,1268,6,88854648,88854648,Missense_Mutation,SNP,G,T,c.(346-348)Cag>Aag,10,169,0,93
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,VPS41,27072,7,38836065,38836065,Intron,SNP,C,T,,4,91,0,50
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,SUN3,256979,7,48046892,48046892,Missense_Mutation,SNP,C,T,c.(361-363)cGt>cAt,11,41,0,45
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ZNF138,7697,7,64292280,64292280,Silent,SNP,A,G,c.(487-489)gaA>gaG,4,129,1,99
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,DUS4L,11062,7,107211701,107211701,Silent,SNP,C,G,c.(226-228)acC>acG,11,42,0,57
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,TAS2R3,50831,7,141464580,141464580,Missense_Mutation,SNP,G,A,c.(622-624)Ggg>Agg,3,26,0,28
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,XKR9,389668,8,71595837,71595837,Intron,SNP,A,C,,6,158,0,104
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,VPS13B,157680,8,100866343,100866343,Missense_Mutation,SNP,G,A,c.(10801-10803)Gct>Act,6,55,0,44
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ZFPM2,23414,8,106814530,106814530,Missense_Mutation,SNP,G,T,c.(2218-2220)aaG>aaT,8,256,0,232
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,CYP11B2,1585,8,143997901,143997901,Intron,SNP,A,G,,5,233,0,55
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,KANK1,23189,9,711893,711893,Missense_Mutation,SNP,C,G,c.(1126-1128)gCc>gGc,5,199,0,106
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,TAF1L,138474,9,32634818,32634818,Nonsense_Mutation,SNP,G,A,c.(760-762)Cga>Tga,18,79,0,134
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,DNAJA1,3301,9,33026845,33026845,Missense_Mutation,SNP,C,T,c.(166-168)tCt>tTt,5,117,1,82
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,SPTAN1,6709,9,131351145,131351145,Missense_Mutation,SNP,G,A,c.(2929-2931)Gac>Aac,6,323,1,212
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,PRRC2B,84726,9,134308138,134308138,Missense_Mutation,SNP,G,A,c.(250-252)Ggg>Agg,5,229,0,90
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,REXO4,57109,9,136282900,136282900,Missense_Mutation,SNP,G,A,c.(64-66)cCt>cTt,8,846,0,304
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,FBXW5,54461,9,139837051,139837051,Missense_Mutation,SNP,C,T,c.(622-624)cGc>cAc,7,395,0,112
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ITIH5,80760,10,7618423,7618423,Silent,SNP,C,T,c.(1969-1971)acG>acA,11,31,0,30
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,TSPAN14,81619,10,82267059,82267059,Missense_Mutation,SNP,G,A,c.(208-210)Gtg>Atg,8,559,0,177
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,LDB3,11155,10,88441313,88441313,Missense_Mutation,SNP,C,T,c.(442-444)Cgg>Tgg,7,515,0,239
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,SMC3,9126,10,112352843,112352843,Missense_Mutation,SNP,A,G,c.(1825-1827)Atg>Gtg,31,91,0,91
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,MUC5B,727897,11,1272801,1272801,Silent,SNP,G,A,c.(14689-14691)tcG>tcA,6,193,0,76
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,RBMXL2,27288,11,7111148,7111148,Missense_Mutation,SNP,G,A,c.(796-798)cGc>cAc,73,255,0,99
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,FCHSD2,9873,11,72560828,72560828,Missense_Mutation,SNP,A,T,c.(1414-1416)cTc>cAc,7,117,0,70
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,CCDC81,60494,11,86098632,86098632,Silent,SNP,C,T,c.(214-216)atC>atT,5,191,0,111
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ZNF259,0,11,116654237,116654237,Intron,SNP,G,T,,5,99,0,74
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,GRIK4,2900,11,120702685,120702685,Silent,SNP,C,T,c.(634-636)acC>acT,13,242,0,81
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,TFCP2,7024,12,51518530,51518530,Intron,SNP,C,T,,8,663,0,271
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ATP2A2,488,12,110729824,110729824,Splice_Site,SNP,G,A,c.e4-1,50,249,1,214
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,CCDC64,92558,12,120499530,120499530,Missense_Mutation,SNP,G,A,c.(661-663)aGa>aAa,25,130,0,97
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,RNF10,9921,12,120972632,120972632,Silent,SNP,C,T,c.(16-18)ccC>ccT,7,437,0,150
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,NOC4L,79050,12,132636091,132636091,Missense_Mutation,SNP,C,T,c.(1135-1137)gCt>gTt,5,238,0,95
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,POLE2,5427,14,50140891,50140891,Missense_Mutation,SNP,G,A,c.(367-369)Cca>Tca,5,185,0,105
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,RPL4,6124,15,66792501,66792501,Missense_Mutation,SNP,G,A,c.(931-933)Cgc>Tgc,5,114,0,82
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,MAPK8IP3,23162,16,1811306,1811306,Splice_Site,SNP,G,A,c.(1534-1536)tcG>tcA,5,250,0,88
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,PKD1,5310,16,2168072,2168072,Silent,SNP,G,A,c.(919-921)ttC>ttT,12,1081,1,431
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,SALL1,6299,16,51175941,51175941,Silent,SNP,G,A,c.(190-192)aaC>aaT,6,164,0,114
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ATP2A3,489,17,3844790,3844790,Silent,SNP,G,A,c.(1702-1704)gaC>gaT,7,643,0,349
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,LIG3,3980,17,33332366,33332366,IGR,SNP,C,T,,7,188,0,144
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,CBX1,10951,17,46154298,46154298,Silent,SNP,C,T,c.(67-69)gtG>gtA,4,126,0,65
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,KAT7,11143,17,47893265,47893265,Missense_Mutation,SNP,C,T,c.(952-954)tCa>tTa,29,63,0,63
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,C17orf112,100506650,17,51063860,51063860,Missense_Mutation,SNP,C,T,c.(103-105)cCt>cTt,5,274,0,146
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,CATSPERD,257062,19,5772278,5772278,Intron,SNP,G,T,,3,19,0,11
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,NWD1,284434,19,16855879,16855879,Intron,SNP,A,G,,5,116,0,77
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ZNF737,100129842,19,20727845,20727845,Silent,SNP,C,T,c.(1162-1164)aaG>aaA,8,320,1,188
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ZNF737,100129842,19,20728086,20728086,Missense_Mutation,SNP,C,G,c.(922-924)aGc>aCc,7,286,1,199
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ZNF708,7562,19,21476519,21476519,Missense_Mutation,SNP,T,C,c.(1249-1251)Aag>Gag,5,97,0,89
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ZNF729,100287226,19,22497587,22497587,Silent,SNP,G,A,c.(1366-1368)ggG>ggA,6,271,0,201
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ZNF850,342892,19,37239667,37239667,Missense_Mutation,SNP,A,C,c.(2275-2277)Tgt>Ggt,5,145,0,124
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ZNF850,342892,19,37239684,37239684,Missense_Mutation,SNP,C,T,c.(2257-2259)gGt>gAt,5,146,0,115
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,TMC4,147798,19,54669162,54669162,Silent,SNP,G,A,c.(952-954)taC>taT,4,88,0,29
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ZNF583,147949,19,56934685,56934685,Missense_Mutation,SNP,G,A,c.(658-660)Gtc>Atc,14,58,0,63
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,CST3,1471,20,23614610,23614610,Silent,SNP,G,A,c.(382-384)taC>taT,8,740,0,320
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,MMP24,10893,20,33867797,33867797,IGR,SNP,G,C,,4,142,0,66
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ETS2,2114,21,40194795,40194795,Missense_Mutation,SNP,G,T,c.(1390-1392)caG>caT,11,29,0,23
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,TUBA8,51807,22,18613905,18613905,3'UTR,SNP,T,C,,38,133,0,83
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,C22orf34,348645,22,50017933,50017933,Missense_Mutation,SNP,G,C,c.(526-528)caC>caG,4,73,0,35
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,FAM197Y1,100289265,Y,9384159,9384159,Intron,SNP,T,C,,5,149,0,65
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ATP2B4,493,1,203691519,203691521,Intron,DEL,ATA,-,,0,10,,
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,TBCE,6905,1,235611846,235611847,Intron,INS,-,GTGGA,,3,56,,
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,AC007092.1,0,2,58688734,58688738,lincRNA,DEL,GCCAA,-,,12,80,,
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,9,20,,
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,FBXL6,26233,8,145581350,145581350,Frame_Shift_Del,DEL,G,-,c.(511-513)gccfs,64,151,,
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,Unknown,0,15,49009278,49009279,IGR,DEL,GT,-,,18,69,,
RP-1532_PCProject_0142_T2_v4_Exome_OnPrem,GLIS2,84662,16,4387550,4387551,3'UTR,INS,-,C,,115,371,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,MIB2,142678,1,1561036,1561036,Intron,SNP,G,A,,7,32,0,126
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,NADK,65220,1,1684399,1684399,Missense_Mutation,SNP,C,T,c.(1285-1287)Gtc>Atc,3,30,0,118
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CEP104,9731,1,3753978,3753978,Missense_Mutation,SNP,C,T,c.(997-999)Gaa>Aaa,7,121,0,304
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,LDLRAD2,401944,1,22141200,22141200,Missense_Mutation,SNP,G,A,c.(394-396)gGc>gAc,3,33,0,106
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SPOCD1,90853,1,32265085,32265085,Splice_Site,SNP,A,T,c.(1783-1785)gcT>gcA,15,71,0,212
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ZSCAN20,7579,1,33960902,33960902,Silent,SNP,G,A,c.(2956-2958)ccG>ccA,3,18,0,47
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,C1orf87,127795,1,60538237,60538237,Missense_Mutation,SNP,A,T,c.(79-81)Ttt>Att,6,56,0,111
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,RBM15,64783,1,110883786,110883786,Missense_Mutation,SNP,G,T,c.(1759-1761)Gtg>Ttg,8,75,0,150
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,LCE2A,353139,1,152671676,152671676,Missense_Mutation,SNP,A,G,c.(298-300)cAc>cGc,4,51,0,98
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,KPRP,448834,1,152733599,152733599,Missense_Mutation,SNP,A,T,c.(1534-1536)gAc>gTc,12,57,0,184
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TPM3,7170,1,154164476,154164476,Missense_Mutation,SNP,T,C,c.(19-21)Aaa>Gaa,5,241,0,498
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,GON4L,54856,1,155720455,155720455,Missense_Mutation,SNP,C,T,c.(6646-6648)Gat>Aat,6,127,0,404
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,KIRREL,55243,1,158058125,158058125,Missense_Mutation,SNP,C,T,c.(925-927)Cgg>Tgg,5,28,0,67
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,OR10Z1,128368,1,158576756,158576756,Missense_Mutation,SNP,C,G,c.(526-528)caC>caG,9,154,0,263
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,OR10J5,127385,1,159505635,159505635,Missense_Mutation,SNP,G,A,c.(163-165)Ctc>Ttc,4,55,0,108
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,OR10J5,127385,1,159505636,159505636,Missense_Mutation,SNP,A,T,c.(160-162)caT>caA,4,55,0,112
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ATP1A4,480,1,160136450,160136450,Missense_Mutation,SNP,A,T,c.(1180-1182)Atg>Ttg,6,198,0,393
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,MROH9,80133,1,171033340,171033340,Silent,SNP,A,G,c.(2443-2445)gcA>gcG,5,95,0,93
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TEX35,84066,1,178490743,178490743,3'UTR,SNP,G,A,,4,151,0,335
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SOAT1,6646,1,179317983,179317983,Missense_Mutation,SNP,G,T,c.(1219-1221)tGg>tTg,3,33,0,60
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SWT1,54823,1,185173931,185173931,Missense_Mutation,SNP,G,A,c.(1768-1770)gGa>gAa,4,60,0,55
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,BRINP3,339479,1,190067261,190067261,Missense_Mutation,SNP,G,C,c.(2188-2190)Cat>Gat,9,87,0,122
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CRB1,23418,1,197404074,197404074,Silent,SNP,G,A,c.(3079-3081)caG>caA,5,200,0,228
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SYT14,255928,1,210329151,210329151,Missense_Mutation,SNP,C,T,c.(1249-1251)cCa>cTa,9,165,0,255
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,EPHX1,2052,1,226026347,226026347,Intron,SNP,C,A,,5,31,0,77
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TARBP1,6894,1,234601401,234601401,Splice_Site,SNP,C,T,c.e5+1,4,44,0,50
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,AKT3,10000,1,243736358,243736358,Intron,SNP,G,A,,4,77,0,104
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,HNRNPU,3192,1,245027611,245027611,5'UTR,SNP,G,T,,29,106,0,212
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,GREB1,9687,2,11780423,11780423,Missense_Mutation,SNP,C,A,c.(5692-5694)aCg>aAg,5,38,0,130
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ASXL2,55252,2,25967263,25967263,Missense_Mutation,SNP,C,A,c.(1942-1944)aGt>aTt,9,61,0,155
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CAD,790,2,27449401,27449401,Silent,SNP,C,T,c.(1849-1851)atC>atT,6,83,0,154
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,EIF2B4,8890,2,27590410,27590410,Missense_Mutation,SNP,G,A,c.(799-801)Cgt>Tgt,10,186,0,387
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CCDC88A,55704,2,55522835,55522835,Silent,SNP,G,T,c.(5449-5451)Cga>Aga,7,274,0,433
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,DNAH6,1768,2,85041175,85041175,Missense_Mutation,SNP,C,T,c.(12079-12081)Cgg>Tgg,5,127,0,198
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TCF7L1,83439,2,85536396,85536396,Silent,SNP,G,A,c.(1576-1578)aaG>aaA,4,51,0,179
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ELMOD3,84173,2,85617345,85617345,Silent,SNP,G,A,c.(898-900)agG>agA,7,227,0,529
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,NPAS2,4862,2,101549387,101549387,Missense_Mutation,SNP,C,T,c.(196-198)aCg>aTg,4,74,0,104
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,IL18R1,8809,2,103013183,103013183,Missense_Mutation,SNP,C,T,c.(1462-1464)tCa>tTa,5,89,0,104
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,MKI67IP,0,2,122493244,122493244,Missense_Mutation,SNP,G,A,c.(187-189)tCa>tTa,5,181,0,340
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,LRP1B,53353,2,141771302,141771302,Missense_Mutation,SNP,C,A,c.(2203-2205)Ggg>Tgg,7,38,0,43
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,DPP4,1803,2,162890105,162890105,Missense_Mutation,SNP,G,A,c.(832-834)tCa>tTa,6,110,0,134
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,METTL8,79828,2,172195819,172195819,Missense_Mutation,SNP,C,T,c.(481-483)Ggt>Agt,4,24,0,45
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TTN,7273,2,179393451,179393451,Missense_Mutation,SNP,G,A,c.(102103-102105)aCc>aTc,6,23,0,45
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TTN,7273,2,179431634,179431634,Missense_Mutation,SNP,G,A,c.(74302-74304)Cgt>Tgt,5,179,0,266
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,FSIP2,401024,2,186671458,186671458,Nonsense_Mutation,SNP,C,T,c.(17425-17427)Caa>Taa,5,41,0,41
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ANKRD44,91526,2,197975513,197975513,Missense_Mutation,SNP,C,A,c.(886-888)cGg>cTg,14,101,0,179
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,COL4A4,1286,2,227924893,227924893,Missense_Mutation,SNP,C,A,c.(2122-2124)aGa>aTa,4,157,1,226
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TRIP12,9320,2,230701657,230701657,Missense_Mutation,SNP,G,A,c.(1051-1053)Cgt>Tgt,5,67,0,99
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,GIGYF2,26058,2,233708762,233708762,Missense_Mutation,SNP,C,T,c.(2896-2898)Cgc>Tgc,5,129,1,183
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,FANCD2,2177,3,10140421,10140421,Silent,SNP,C,T,c.(4201-4203)tcC>tcT,4,86,1,190
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,EOMES,8320,3,27763008,27763008,Missense_Mutation,SNP,C,A,c.(778-780)Gtt>Ttt,27,127,0,363
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TRIM71,131405,3,32932128,32932128,Missense_Mutation,SNP,G,A,c.(1432-1434)Gtt>Att,5,95,0,206
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,FBXW12,285231,3,48414793,48414793,Intron,SNP,C,G,,3,17,0,52
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TMEM89,440955,3,48658943,48658943,Missense_Mutation,SNP,G,A,c.(247-249)Cgc>Tgc,5,143,0,506
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,DOCK3,1795,3,51411913,51411913,Silent,SNP,G,A,c.(5305-5307)ctG>ctA,5,67,0,213
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,BBX,56987,3,107492062,107492062,Nonsense_Mutation,SNP,G,A,c.(1492-1494)tgG>tgA,4,86,0,143
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SLC9C1,285335,3,111997693,111997693,Silent,SNP,G,A,c.(199-201)taC>taT,9,101,0,81
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SEMA5B,54437,3,122634721,122634721,Missense_Mutation,SNP,G,A,c.(1705-1707)Cgg>Tgg,11,56,0,175
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,KALRN,8997,3,124066063,124066063,Missense_Mutation,SNP,G,A,c.(1714-1716)cGa>cAa,4,169,0,239
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,EFCC1,79825,3,128755896,128755896,Missense_Mutation,SNP,G,T,c.(1525-1527)cGg>cTg,7,74,0,247
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SERP1,27230,3,150321258,150321258,5'Flank,SNP,A,G,,4,49,1,121
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,FGFR3,2261,4,1806090,1806090,Missense_Mutation,SNP,G,T,c.(1108-1110)gGc>gTc,3,16,0,53
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,POLN,353497,4,2083402,2083402,Missense_Mutation,SNP,G,A,c.(2266-2268)Cgg>Tgg,4,72,0,212
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,EVC2,132884,4,5667369,5667369,Missense_Mutation,SNP,G,A,c.(877-879)cCg>cTg,10,189,0,424
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SLIT2,9353,4,20533630,20533630,Missense_Mutation,SNP,C,T,c.(1636-1638)aCc>aTc,6,70,0,38
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,COX18,285521,4,73927577,73927577,Missense_Mutation,SNP,G,A,c.(781-783)Cgt>Tgt,5,148,0,209
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CCDC158,339965,4,77305736,77305736,Missense_Mutation,SNP,A,C,c.(370-372)aTg>aGg,4,49,0,75
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ALPK1,80216,4,113347597,113347597,Intron,SNP,C,A,,4,86,0,120
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,DCHS2,54798,4,155256235,155256235,Missense_Mutation,SNP,G,A,c.(1000-1002)cCt>cTt,5,93,0,195
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,KLHL2,11275,4,166226878,166226878,Splice_Site,SNP,G,A,c.e9+1,7,82,0,145
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,AADAT,51166,4,170983040,170983040,Intron,SNP,C,T,,5,39,0,58
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SDHA,6389,5,233731,233731,Silent,SNP,G,A,c.(1033-1035)cgG>cgA,7,144,0,316
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,DDX4,54514,5,55059066,55059066,Missense_Mutation,SNP,G,C,c.(268-270)aGt>aCt,4,85,0,85
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,FCHO2,115548,5,72286641,72286641,Missense_Mutation,SNP,G,A,c.(445-447)Gaa>Aaa,5,78,0,120
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,LIX1,167410,5,96430711,96430711,Missense_Mutation,SNP,G,A,c.(589-591)tCt>tTt,7,99,0,155
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SLCO6A1,133482,5,101735259,101735259,Splice_Site,SNP,C,T,c.(1813-1815)cGg>cAg,3,15,0,25
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CEP120,153241,5,122682309,122682309,Missense_Mutation,SNP,C,A,c.(2863-2865)ttG>ttT,5,139,0,168
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SAR1B,51128,5,133944160,133944160,Missense_Mutation,SNP,G,A,c.(382-384)Cct>Tct,5,190,0,201
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,EIF4EBP3,8637,5,139931722,139931722,IGR,SNP,G,A,,4,98,0,144
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,PCDHA12,56137,5,140256309,140256309,Missense_Mutation,SNP,G,A,c.(1252-1254)Gtg>Atg,26,212,1,405
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,PCDHGA3,56112,5,140724865,140724865,Missense_Mutation,SNP,T,A,c.(1264-1266)cTg>cAg,4,68,0,115
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,KIAA0141,9812,5,141318259,141318259,Missense_Mutation,SNP,A,T,c.(1483-1485)Agc>Tgc,5,109,0,251
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ARSI,340075,5,149677706,149677706,Missense_Mutation,SNP,G,A,c.(781-783)Cgg>Tgg,19,44,0,160
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TRIM41,90933,5,180651588,180651588,Missense_Mutation,SNP,C,T,c.(589-591)Ccc>Tcc,10,93,0,186
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,XPO5,57510,6,43533398,43533398,Splice_Site,SNP,G,A,c.(910-912)Cag>Tag,4,69,0,114
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CD2AP,23607,6,47471129,47471129,Missense_Mutation,SNP,G,A,c.(118-120)Gga>Aga,6,131,0,159
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,PHF3,23469,6,64421744,64421744,Silent,SNP,C,T,c.(4258-4260)gaC>gaT,7,123,0,147
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ME1,4199,6,84061802,84061802,Nonsense_Mutation,SNP,C,T,c.(418-420)tGg>tAg,4,95,0,99
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,PPIL4,85313,6,149856791,149856791,Silent,SNP,T,G,c.(403-405)atA>atC,3,61,0,83
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ARID1B,57492,6,157528184,157528184,Missense_Mutation,SNP,G,A,c.(5869-5871)gGc>gAc,7,185,0,277
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TYW1B,441250,7,72209549,72209549,RNA,SNP,G,T,,16,108,0,218
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SRRM3,222183,7,75889466,75889466,Missense_Mutation,SNP,C,T,c.(496-498)Ccc>Tcc,3,31,0,100
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,PCLO,27445,7,82763872,82763872,Missense_Mutation,SNP,C,G,c.(2992-2994)aaG>aaC,4,136,0,220
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SEMA3E,9723,7,83098560,83098560,Splice_Site,SNP,G,A,c.(334-336)gCg>gTg,15,69,0,67
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,GNGT1,2792,7,93540183,93540183,Missense_Mutation,SNP,G,A,c.(178-180)Gac>Aac,6,65,0,83
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,PON3,5446,7,94989329,94989329,Missense_Mutation,SNP,G,A,c.(1021-1023)Ctc>Ttc,6,244,0,291
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TMEM130,222865,7,98460973,98460973,Missense_Mutation,SNP,C,T,c.(136-138)Gtg>Atg,6,17,0,84
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,GIGYF1,64599,7,100282716,100282716,Missense_Mutation,SNP,G,A,c.(1246-1248)Ccc>Tcc,6,65,0,229
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CPED1,79974,7,120906376,120906376,Silent,SNP,C,T,c.(2404-2406)ggC>ggT,5,191,0,204
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ZNF783,100289678,7,148992036,148992036,IGR,SNP,C,T,,7,63,0,202
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,GALNT11,63917,7,151815804,151815804,Silent,SNP,C,A,c.(1492-1494)ggC>ggA,4,141,0,194
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,PAXIP1,22976,7,154747291,154747291,Missense_Mutation,SNP,G,A,c.(2599-2601)cCt>cTt,6,76,0,92
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,HHLA1,10086,8,133092123,133092123,Missense_Mutation,SNP,T,A,c.(766-768)cAg>cTg,4,176,0,301
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ZFAT,57623,8,135577645,135577645,Silent,SNP,C,G,c.(2905-2907)acG>acC,5,187,0,359
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,FAM135B,51059,8,139158259,139158259,Silent,SNP,G,A,c.(3481-3483)ttC>ttT,4,66,0,85
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TMEM8B,51754,9,35846385,35846385,Intron,SNP,G,A,,3,40,0,120
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,NTRK2,4915,9,87563541,87563541,Missense_Mutation,SNP,G,T,c.(1879-1881)aaG>aaT,11,76,0,165
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,HIATL1,84641,9,97203293,97203293,Missense_Mutation,SNP,C,T,c.(421-423)tCt>tTt,7,43,0,70
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ABCA1,19,9,107618131,107618131,Intron,SNP,G,A,,5,127,0,182
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,FSD1L,83856,9,108234199,108234199,Missense_Mutation,SNP,A,C,c.(352-354)caA>caC,8,41,0,21
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,PRPF4,9128,9,116048519,116048519,Missense_Mutation,SNP,C,T,c.(760-762)Ctt>Ttt,5,48,0,135
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,NOTCH1,4851,9,139400110,139400110,Missense_Mutation,SNP,C,T,c.(4237-4239)cGt>cAt,3,24,0,107
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CACNB2,783,10,18439841,18439841,Missense_Mutation,SNP,C,A,c.(148-150)aaC>aaA,10,121,0,82
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ZNF37A,7587,10,38406401,38406401,Missense_Mutation,SNP,C,T,c.(322-324)Cat>Tat,6,32,0,35
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ERCC6,2074,10,50682260,50682260,Missense_Mutation,SNP,T,G,c.(2410-2412)aAa>aCa,7,120,0,172
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SLC25A16,8034,10,70276508,70276508,Splice_Site,SNP,C,T,c.(223-225)Gga>Aga,8,33,0,39
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,AIFM2,84883,10,71880929,71880929,Missense_Mutation,SNP,G,T,c.(331-333)agC>agA,4,73,1,166
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,NRG3,10718,10,83637830,83637830,Intron,SNP,G,A,,4,57,0,76
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,MYOF,26509,10,95169492,95169492,Missense_Mutation,SNP,A,T,c.(436-438)gaT>gaA,10,104,0,164
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CNNM1,26507,10,101150139,101150139,Silent,SNP,G,C,c.(2749-2751)gtG>gtC,5,64,0,134
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,COL17A1,1308,10,105799361,105799361,Intron,SNP,C,A,,4,164,0,318
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TACC2,10579,10,123970663,123970663,Missense_Mutation,SNP,G,T,c.(6721-6723)gaG>gaT,4,30,0,64
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,OAT,4942,10,126091588,126091588,Missense_Mutation,SNP,C,T,c.(808-810)Gcc>Acc,5,107,0,198
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,HPX,3263,11,6461728,6461728,Silent,SNP,C,T,c.(181-183)ctG>ctA,8,70,0,117
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,DNHD1,144132,11,6591961,6591961,Nonsense_Mutation,SNP,C,T,c.(13219-13221)Cga>Tga,14,135,0,394
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ABCC8,6833,11,17470153,17470153,Silent,SNP,A,T,c.(1240-1242)gcT>gcA,4,146,0,299
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,QSER1,79832,11,32956117,32956117,Missense_Mutation,SNP,C,T,c.(2926-2928)Cca>Tca,21,52,0,75
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,KIAA1549L,25758,11,33566867,33566867,Missense_Mutation,SNP,G,A,c.(2437-2439)Ggc>Agc,5,59,0,110
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SLC1A2,6506,11,35440511,35440511,Start_Codon_SNP,SNP,C,T,c.(1-3)atG>atA,8,27,0,85
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,B3GAT3,26229,11,62383242,62383242,Missense_Mutation,SNP,C,A,c.(937-939)aaG>aaT,4,175,0,490
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,B3GAT3,26229,11,62383703,62383703,Intron,SNP,G,A,,3,8,0,12
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,B3GAT3,26229,11,62383708,62383708,Intron,SNP,T,C,,3,6,0,9
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,RASGRP2,10235,11,64494826,64494826,Missense_Mutation,SNP,C,T,c.(1777-1779)cGt>cAt,4,106,0,235
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ARAP1,116985,11,72406799,72406799,Silent,SNP,C,T,c.(3382-3384)gtG>gtA,10,58,0,173
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,NCAM1,4684,11,113146062,113146062,Missense_Mutation,SNP,G,A,c.(2500-2502)Gtc>Atc,4,113,0,197
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,VPS11,55823,11,118940201,118940201,Missense_Mutation,SNP,C,T,c.(382-384)aCt>aTt,4,108,0,223
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,HMBS,3145,11,118955857,118955857,Intron,SNP,G,T,,4,139,1,219
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CDON,50937,11,125864954,125864954,Intron,SNP,G,T,,6,148,0,237
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SCNN1A,6337,12,6457159,6457159,Silent,SNP,G,T,c.(1888-1890)ggC>ggA,10,32,0,117
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,STYK1,55359,12,10782142,10782142,Missense_Mutation,SNP,C,T,c.(583-585)Gag>Aag,6,195,0,311
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ABCD2,225,12,40001411,40001411,Missense_Mutation,SNP,G,A,c.(1225-1227)tCa>tTa,4,127,0,150
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SLC38A1,81539,12,46591838,46591838,Silent,SNP,A,T,c.(1126-1128)cgT>cgA,6,43,0,54
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TMEM106C,79022,12,48358115,48358115,Silent,SNP,A,G,c.(94-96)gaA>gaG,4,176,1,379
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,KANSL2,54934,12,49047968,49047968,Intron,SNP,G,C,,4,32,0,84
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,KMT2D,8085,12,49431388,49431388,Missense_Mutation,SNP,C,A,c.(9751-9753)Gac>Tac,5,95,0,311
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ZC3H10,84872,12,56509933,56509933,5'Flank,SNP,A,G,,5,57,0,51
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,LRP1,4035,12,57578955,57578955,Missense_Mutation,SNP,G,C,c.(6430-6432)Gac>Cac,4,55,0,211
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CPSF6,11052,12,69652748,69652748,Missense_Mutation,SNP,A,T,c.(1072-1074)aAc>aTc,7,195,0,324
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TRHDE,29953,12,72866879,72866879,Nonsense_Mutation,SNP,G,A,c.(1366-1368)tgG>tgA,5,116,1,230
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,PHLDA1,22822,12,76425249,76425249,Silent,SNP,G,T,c.(271-273)ctC>ctA,5,41,0,59
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,OTOGL,283310,12,80626756,80626756,Silent,SNP,A,T,c.(667-669)tcA>tcT,5,139,0,199
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,DAO,1610,12,109294254,109294254,Silent,SNP,C,G,c.(985-987)ctC>ctG,14,114,0,354
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,BRAP,8315,12,112119543,112119543,Missense_Mutation,SNP,G,A,c.(250-252)gCc>gTc,4,97,0,192
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,EXOSC8,11340,13,37580169,37580169,Intron,SNP,G,A,,4,74,0,94
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,MYO16,23026,13,109793374,109793374,Missense_Mutation,SNP,C,T,c.(4747-4749)cCc>cTc,4,14,0,13
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,OR11G2,390439,14,20665696,20665696,Missense_Mutation,SNP,C,A,c.(202-204)Ctc>Atc,4,91,0,126
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TINF2,26277,14,24710974,24710974,Missense_Mutation,SNP,C,A,c.(304-306)caG>caT,5,232,1,416
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CTSG,1511,14,25044566,25044566,Silent,SNP,C,T,c.(106-108)gcG>gcA,4,109,0,180
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,MDGA2,161357,14,47324328,47324328,Missense_Mutation,SNP,C,A,c.(2575-2577)Ggg>Tgg,4,78,0,51
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,KTN1,3895,14,56086016,56086016,Missense_Mutation,SNP,G,A,c.(949-951)Gat>Aat,7,78,0,90
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ZFYVE26,23503,14,68252915,68252915,Missense_Mutation,SNP,C,T,c.(3055-3057)Ggc>Agc,4,175,0,290
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,DPF3,8110,14,73137995,73137995,Intron,SNP,C,T,,33,155,0,345
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,NBEAP1,606,15,20874891,20874891,RNA,SNP,T,C,,10,153,1,134
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,NBEAP1,606,15,20874938,20874938,RNA,SNP,G,A,,6,141,0,112
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SLC12A1,6557,15,48566843,48566843,Silent,SNP,G,A,c.(2476-2478)caG>caA,8,56,0,70
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,FBN1,2200,15,48704790,48704790,Missense_Mutation,SNP,G,T,c.(8200-8202)aaC>aaA,6,206,0,348
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ZNF609,23060,15,64970319,64970319,Missense_Mutation,SNP,C,T,c.(3406-3408)gCa>gTa,4,31,0,88
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SPESP1,246777,15,69238779,69238779,Missense_Mutation,SNP,G,A,c.(904-906)atG>atA,4,48,0,69
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SPESP1,246777,15,69238791,69238791,Silent,SNP,T,C,c.(916-918)tcT>tcC,4,51,0,63
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,DNM1P34,729809,15,75595066,75595066,RNA,SNP,C,A,,3,21,0,70
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,DNAJA4,55466,15,78562918,78562918,Missense_Mutation,SNP,C,T,c.(211-213)gCa>gTa,5,115,0,187
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,FSD2,123722,15,83456071,83456071,Missense_Mutation,SNP,C,T,c.(70-72)atG>atA,3,57,0,94
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ALPK3,57538,15,85405949,85405949,Nonsense_Mutation,SNP,C,T,c.(4819-4821)Cga>Tga,7,101,0,188
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SHISA9,729993,16,13328878,13328878,Intron,SNP,G,A,,3,26,0,41
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ZP2,7783,16,21221035,21221035,Missense_Mutation,SNP,G,A,c.(247-249)Ctc>Ttc,11,89,0,187
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,MVP,9961,16,29845107,29845107,Silent,SNP,G,A,c.(373-375)gcG>gcA,5,64,1,272
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ITGAM,3684,16,31308845,31308845,Missense_Mutation,SNP,A,T,c.(1366-1368)tAc>tTc,4,147,0,370
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,MYLK3,91807,16,46746589,46746589,Missense_Mutation,SNP,C,T,c.(2083-2085)atG>atA,3,18,0,44
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ZNF423,23090,16,49671955,49671955,Missense_Mutation,SNP,C,T,c.(1108-1110)Gcc>Acc,8,68,0,292
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SLC6A2,6530,16,55705833,55705833,Intron,SNP,C,T,,9,37,0,141
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,OGFOD1,55239,16,56503978,56503978,Missense_Mutation,SNP,G,T,c.(964-966)Ggt>Tgt,4,73,0,162
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,DYNC1LI2,1783,16,66783105,66783105,Missense_Mutation,SNP,C,T,c.(292-294)cGa>cAa,4,57,0,111
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CES2,8824,16,66973248,66973248,Missense_Mutation,SNP,G,A,c.(601-603)gGc>gAc,6,64,0,143
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ZNF469,84627,16,88505044,88505044,Silent,SNP,C,A,c.(11080-11082)gcC>gcA,4,33,2,219
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SLC43A2,124935,17,1494753,1494753,Missense_Mutation,SNP,C,A,c.(739-741)aaG>aaT,5,72,0,246
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,PFN1,5216,17,4850122,4850122,Intron,SNP,G,A,,4,29,0,58
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TP53,7157,17,7578526,7578526,Missense_Mutation,SNP,C,G,c.(403-405)tGc>tCc,4,42,0,231
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,PIK3R5,23533,17,8790856,8790856,Silent,SNP,A,G,c.(1759-1761)ccT>ccC,4,24,0,122
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,DNAH9,1770,17,11604566,11604566,Splice_Site,SNP,T,C,c.e24+2,4,41,1,107
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,HS3ST3A1,9955,17,13503947,13503947,Missense_Mutation,SNP,G,A,c.(499-501)gCg>gTg,13,72,0,237
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TAOK1,57551,17,27807493,27807493,Missense_Mutation,SNP,C,G,c.(556-558)cCg>cGg,10,52,0,77
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,KLHL10,317719,17,40001884,40001884,Silent,SNP,C,T,c.(1189-1191)taC>taT,3,16,0,41
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,EZH1,2145,17,40857111,40857111,Missense_Mutation,SNP,C,T,c.(1930-1932)Ggt>Agt,3,48,0,116
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,AARSD1,80755,17,41109199,41109199,Silent,SNP,G,A,c.(343-345)atC>atT,5,38,0,89
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,OSBPL7,114881,17,45897629,45897629,Missense_Mutation,SNP,T,C,c.(16-18)Agg>Ggg,6,41,0,141
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ABCA6,23460,17,67081847,67081847,Silent,SNP,C,T,c.(3946-3948)ttG>ttA,9,113,0,131
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ITGB4,3691,17,73724536,73724536,Missense_Mutation,SNP,C,T,c.(547-549)aCg>aTg,5,110,0,361
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,MIB1,57534,18,19359536,19359536,Missense_Mutation,SNP,T,G,c.(796-798)caT>caG,5,160,0,282
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TMX3,54495,18,66350224,66350224,Intron,SNP,C,T,,5,96,0,114
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ZNF407,55628,18,72776038,72776038,Missense_Mutation,SNP,G,T,c.(6361-6363)Gcc>Tcc,5,46,0,108
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CATSPERD,257062,19,5772099,5772099,Intron,SNP,C,A,,3,19,0,67
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,MUC16,94025,19,9008196,9008196,Missense_Mutation,SNP,T,A,c.(39355-39357)gAc>gTc,6,77,0,169
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,MUC16,94025,19,9076702,9076702,Missense_Mutation,SNP,T,A,c.(10744-10746)Acc>Tcc,16,62,0,193
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,COL5A3,50509,19,10078086,10078086,Intron,SNP,G,T,,4,25,0,98
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ZNF625,90589,19,12253538,12253538,3'UTR,SNP,G,A,,6,52,0,159
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ZNF490,57474,19,12720730,12720730,Intron,SNP,C,T,,5,83,0,121
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,YJEFN3,374887,19,19643538,19643538,Missense_Mutation,SNP,G,C,c.(307-309)Gct>Cct,6,27,0,151
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ZNF507,22847,19,32847549,32847549,Nonsense_Mutation,SNP,C,T,c.(2155-2157)Cag>Tag,5,85,0,93
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,HKR1,284459,19,37850325,37850325,Intron,SNP,T,G,,4,31,0,41
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,PLEKHG2,64857,19,39914159,39914159,Missense_Mutation,SNP,G,A,c.(2464-2466)cGg>cAg,3,4,0,41
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SLC4A11,83959,20,3209775,3209775,Missense_Mutation,SNP,A,T,c.(2032-2034)Ttg>Atg,5,113,0,382
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CHGB,1114,20,5903964,5903964,Missense_Mutation,SNP,T,A,c.(1174-1176)Tta>Ata,6,122,1,263
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,XRN2,22803,20,21328885,21328885,Silent,SNP,G,A,c.(1765-1767)acG>acA,4,71,0,98
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,RPN2,6185,20,35842181,35842181,Missense_Mutation,SNP,T,G,c.(1003-1005)aaT>aaG,6,142,1,232
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,DHX35,60625,20,37659354,37659354,Missense_Mutation,SNP,C,T,c.(1891-1893)Cgt>Tgt,4,92,0,169
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,PABPC1L,80336,20,43564062,43564062,Missense_Mutation,SNP,G,A,c.(1474-1476)aGt>aAt,4,102,0,224
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,LAMA5,3911,20,60913415,60913415,Nonsense_Mutation,SNP,A,T,c.(1627-1629)tgT>tgA,5,29,0,69
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,RBBP8NL,140893,20,60987805,60987805,Missense_Mutation,SNP,C,A,c.(1750-1752)gGc>gTc,6,48,0,175
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,KCNQ2,3785,20,62070068,62070068,Missense_Mutation,SNP,G,C,c.(931-933)atC>atG,14,69,0,280
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,C20orf201,0,20,62715327,62715327,Silent,SNP,C,G,c.(244-246)ggG>ggC,3,44,0,130
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,BTG3,10950,21,18976490,18976490,Intron,SNP,A,G,,4,51,0,43
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,C21orf59,56683,21,33975528,33975528,Silent,SNP,C,T,c.(607-609)aaG>aaA,5,131,1,267
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,GAB4,128954,22,17451057,17451057,Missense_Mutation,SNP,T,A,c.(712-714)gAg>gTg,6,63,0,205
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CDC45,8318,22,19504055,19504055,Silent,SNP,G,A,c.(1444-1446)aaG>aaA,11,56,0,160
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,EIF4ENIF1,56478,22,31859897,31859897,Missense_Mutation,SNP,G,A,c.(355-357)Cgg>Tgg,5,113,0,269
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SCUBE1,80274,22,43600017,43600017,Silent,SNP,G,T,c.(2953-2955)Cgg>Agg,5,28,0,125
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,MAGEB1,4112,X,30269508,30269508,Missense_Mutation,SNP,T,A,c.(898-900)Ttc>Atc,7,103,0,146
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SYTL5,94122,X,37962301,37962301,Intron,SNP,G,A,,5,45,0,55
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TSIX,9383,X,73043139,73043139,lincRNA,SNP,T,C,,3,22,0,23
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,PNCK,139728,X,152938508,152938508,Silent,SNP,C,T,c.(22-24)acG>acA,3,26,0,58
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,USP9Y,8287,Y,14898562,14898562,Missense_Mutation,SNP,G,A,c.(3388-3390)atG>atA,8,125,0,166
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,HSPG2,3339,1,22167472,22167473,Intron,INS,-,AT,,3,15,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,GDAP2,54834,1,118454613,118454617,Splice_Site,DEL,TACGA,-,c.(556-561)cttcgt>ctt,4,58,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ITLN1,55600,1,160851782,160851783,Frame_Shift_Ins,INS,-,CAGAG,c.(367-372)tttggafs,4,140,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TNNT2,7139,1,201334398,201334406,In_Frame_Del,DEL,TCATTCAGG,-,c.(292-303)gacctgaatgag>gag,5,128,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ARF4,378,3,57569694,57569700,Frame_Shift_Del,DEL,GAAACAA,-,c.(181-189)atttgtttcfs,4,155,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SLC2A12,154091,6,134327955,134327956,Frame_Shift_Del,DEL,AC,-,c.(1561-1563)gtafs,12,52,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,AIG1,51390,6,143382269,143382270,Intron,INS,-,TAGTATA,,3,68,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,ARID1B,57492,6,157099259,157099272,Frame_Shift_Del,DEL,AACCACAAACTGAA,-,c.(196-210)aaccacaaactgaaafs,7,179,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TPD52,7163,8,80992663,80992663,Frame_Shift_Del,DEL,T,-,c.(25-27)tatfs,13,85,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,SLC6A12,6539,12,307950,307951,Intron,INS,-,C,,4,20,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,PZP,5858,12,9322180,9322181,Frame_Shift_Ins,INS,-,A,c.(1846-1848)aatfs,3,19,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,PELP1,27043,17,4575584,4575586,In_Frame_Del,DEL,TCT,-,c.(2698-2703)gaagag>gag,4,26,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CASKIN2,57513,17,73498675,73498676,Frame_Shift_Ins,INS,-,T,c.(2479-2481)gctfs,3,19,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,WDR7,23335,18,54354104,54354108,Frame_Shift_Del,DEL,GAGGA,-,c.(616-621)gaggagfs,4,66,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,C3,718,19,6702734,6702735,Intron,INS,-,A,,3,9,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,TM6SF2,53345,19,19378758,19378758,Intron,DEL,T,-,,3,16,,
RP-1532_PCProject_0149_T1_v2_Exome_OnPrem,CERK,64781,22,47095465,47095465,Intron,DEL,A,-,,3,2,,
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,MCOLN3,55283,1,85506811,85506811,Missense_Mutation,SNP,T,A,c.(277-279)gAg>gTg,6,150,0,163
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,SLAMF1,6504,1,160589633,160589633,Missense_Mutation,SNP,G,A,c.(796-798)aCg>aTg,6,323,0,167
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,PTPRC,5788,1,198704340,198704340,Nonsense_Mutation,SNP,A,T,c.(2356-2358)Aga>Tga,90,382,0,218
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,PLEKHA6,22874,1,204219711,204219711,Missense_Mutation,SNP,C,T,c.(1555-1557)aGc>aAc,7,373,0,202
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,USH2A,7399,1,216074120,216074120,Silent,SNP,G,A,c.(7426-7428)ggC>ggT,191,250,0,278
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,LPIN1,23175,2,11922456,11922456,Missense_Mutation,SNP,G,A,c.(979-981)Ggt>Agt,5,230,0,190
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,PLEKHH2,130271,2,43969905,43969905,Missense_Mutation,SNP,T,C,c.(3247-3249)Tac>Cac,21,43,0,50
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,NRXN1,9378,2,50765710,50765710,Silent,SNP,G,A,c.(1822-1824)gaC>gaT,3,6,0,9
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,CHCHD5,84269,2,113343960,113343960,Intron,SNP,C,A,,69,205,0,168
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,ACVR1C,130399,2,158443922,158443922,De_novo_Start_OutOfFrame,SNP,C,T,,9,102,0,117
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,HOXD13,3239,2,176957837,176957837,Silent,SNP,C,T,c.(217-219)ggC>ggT,22,52,0,103
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,PLCD1,5333,3,38051776,38051776,Intron,SNP,G,C,,15,231,0,273
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,ZDHHC3,51304,3,44974447,44974447,Intron,SNP,C,T,,31,182,0,151
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,STAB1,23166,3,52539797,52539797,Splice_Site,SNP,G,A,c.(1693-1695)gcG>gcA,4,88,0,102
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,OR5K2,402135,3,98216917,98216917,Silent,SNP,G,A,c.(391-393)caG>caA,5,147,0,143
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,TOPBP1,11073,3,133374153,133374153,Silent,SNP,G,A,c.(721-723)ctC>ctT,26,45,0,45
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,PRR23A,729627,3,138724332,138724332,Missense_Mutation,SNP,C,T,c.(778-780)cGc>cAc,8,27,0,33
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,ANKRD17,26057,4,74027047,74027047,Missense_Mutation,SNP,G,A,c.(565-567)aCg>aTg,21,62,0,80
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,FRAS1,80144,4,79238585,79238585,Missense_Mutation,SNP,C,T,c.(1882-1884)cCc>cTc,111,322,0,251
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,UNC5C,8633,4,96106355,96106355,Intron,SNP,G,A,,4,44,0,63
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,ADAMTS12,81792,5,33549441,33549441,Silent,SNP,G,A,c.(4171-4173)tgC>tgT,15,127,0,80
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,ZCCHC10,54819,5,132354809,132354809,Intron,SNP,C,T,,43,93,0,93
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,TCERG1,10915,5,145838662,145838662,Silent,SNP,G,A,c.(652-654)caG>caA,8,477,0,387
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,SH3PXD2B,285590,5,171765622,171765622,Silent,SNP,G,A,c.(2485-2487)acC>acT,5,405,0,407
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,DOK3,79930,5,176936603,176936603,Missense_Mutation,SNP,G,A,c.(106-108)cCg>cTg,3,30,0,30
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,SLC44A4,80736,6,31839170,31839170,Missense_Mutation,SNP,G,C,c.(622-624)Ctt>Gtt,32,113,0,138
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,DST,667,6,56397274,56397274,Missense_Mutation,SNP,G,A,c.(16342-16344)aCg>aTg,6,256,0,240
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,VNN1,8876,6,133005600,133005600,Silent,SNP,G,A,c.(1231-1233)tgC>tgT,5,214,0,148
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,DLL1,28514,6,170598449,170598449,Intron,SNP,C,T,,11,47,0,102
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,FBXL18,80028,7,5545231,5545231,Missense_Mutation,SNP,G,A,c.(49-51)Cct>Tct,5,162,0,126
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,ETV1,2115,7,13971327,13971327,Missense_Mutation,SNP,G,A,c.(601-603)cCg>cTg,5,253,0,178
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,POM121,9883,7,72396930,72396930,Silent,SNP,C,T,c.(775-777)Ctg>Ttg,6,418,0,302
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,GRM3,2913,7,86415978,86415978,Silent,SNP,C,T,c.(868-870)cgC>cgT,32,121,0,122
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,COL1A2,1278,7,94052330,94052330,Missense_Mutation,SNP,G,A,c.(2464-2466)cGt>cAt,71,407,0,281
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,SMURF1,57154,7,98633233,98633233,Missense_Mutation,SNP,G,A,c.(1993-1995)gCg>gTg,6,458,0,225
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,RP11-1220K2.2,0,7,141920475,141920475,Missense_Mutation,SNP,G,A,c.(6163-6165)aGt>aAt,6,354,0,232
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,SORBS3,10174,8,22424584,22424584,Silent,SNP,C,T,c.(1201-1203)Ctg>Ttg,4,52,0,66
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,FNTA,2339,8,42911501,42911501,Silent,SNP,C,A,c.(10-12)acC>acA,6,48,0,53
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,ZFHX4,79776,8,77763987,77763987,Silent,SNP,C,T,c.(4828-4830)atC>atT,17,204,0,148
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,SMC5,23137,9,72930493,72930493,Splice_Site,SNP,G,A,c.(1804-1806)cGg>cAg,4,63,0,60
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,PCSK5,5125,9,78942916,78942916,Intron,SNP,C,T,,7,52,0,80
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,Unknown,0,9,84676013,84676013,IGR,SNP,G,A,,6,296,0,337
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,ZCCHC6,79670,9,88938501,88938501,Missense_Mutation,SNP,C,G,c.(2164-2166)Gaa>Caa,4,88,0,118
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,FANCC,2176,9,97873814,97873814,Silent,SNP,C,T,c.(1258-1260)acG>acA,8,322,0,190
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,DNM1,1759,9,130980524,130980524,Missense_Mutation,SNP,G,A,c.(175-177)cGa>cAa,28,272,0,151
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,DNM1,1759,9,130982625,130982625,Intron,SNP,G,C,,12,69,0,76
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,HK1,3098,10,71075714,71075714,5'Flank,SNP,G,T,,7,605,0,335
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,DOCK1,1793,10,128836048,128836048,Silent,SNP,C,T,c.(1915-1917)Ctg>Ttg,5,152,0,107
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,MUC5B,727897,11,1262164,1262164,Missense_Mutation,SNP,G,A,c.(4054-4056)Ggc>Agc,31,70,0,114
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,IGF2,3481,11,2167603,2167603,Intron,SNP,G,A,,5,194,1,172
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,SLC35C1,55343,11,45832442,45832442,Silent,SNP,G,A,c.(649-651)acG>acA,6,301,0,229
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,NRXN2,9379,11,64444474,64444474,Silent,SNP,C,G,c.(1186-1188)ctG>ctC,5,249,0,167
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,FOXM1,2305,12,2968261,2968261,Missense_Mutation,SNP,G,A,c.(1834-1836)cCg>cTg,10,43,0,78
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,WNT1,7471,12,49374214,49374214,Silent,SNP,A,C,c.(364-366)cgA>cgC,50,135,1,156
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,EID3,493861,12,104697804,104697804,Missense_Mutation,SNP,C,A,c.(91-93)aCc>aAc,46,177,0,133
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,CHST11,50515,12,105150889,105150889,Missense_Mutation,SNP,G,A,c.(367-369)Gtg>Atg,5,208,0,152
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,TDRD3,81550,13,61084015,61084015,Missense_Mutation,SNP,G,C,c.(697-699)aGc>aCc,41,110,0,123
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,OR4K5,79317,14,20389370,20389370,Missense_Mutation,SNP,A,G,c.(604-606)aAt>aGt,8,287,0,258
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,NRL,4901,14,24551843,24551843,Missense_Mutation,SNP,A,G,c.(214-216)cTg>cCg,77,208,0,220
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,RPL10L,140801,14,47120324,47120324,Silent,SNP,A,G,c.(616-618)Ttg>Ctg,5,66,0,92
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,RAD51B,5890,14,68331856,68331856,Splice_Site,SNP,G,A,c.(451-453)aGa>aAa,4,91,0,60
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,MIR380,494329,14,101491995,101491995,RNA,SNP,G,A,,23,47,0,110
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,MYO5A,4644,15,52613589,52613589,Missense_Mutation,SNP,G,A,c.(4843-4845)Cgg>Tgg,73,103,0,243
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,UNKL,64718,16,1456051,1456051,Intron,SNP,G,A,,5,185,0,131
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,RBFOX1,54715,16,7759548,7759548,Intron,SNP,C,A,,15,169,0,100
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,NFATC2IP,84901,16,28962682,28962682,Missense_Mutation,SNP,C,T,c.(349-351)cCg>cTg,3,4,0,13
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,LAT,27040,16,28996216,28996216,5'Flank,SNP,G,C,,4,74,0,69
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,ABCC12,94160,16,48145696,48145696,Missense_Mutation,SNP,C,A,c.(2113-2115)ttG>ttT,17,109,0,99
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,FOXN1,8456,17,26857810,26857810,Missense_Mutation,SNP,C,T,c.(874-876)Ctt>Ttt,6,349,0,274
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,MPO,4353,17,56355210,56355210,Silent,SNP,C,T,c.(1180-1182)gcG>gcA,17,189,0,200
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,BCAS3,54828,17,59161909,59161909,Silent,SNP,G,A,c.(2452-2454)gtG>gtA,12,277,0,180
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,P4HB,5034,17,79804340,79804340,Missense_Mutation,SNP,C,T,c.(1021-1023)Gag>Aag,42,221,0,202
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,ZNF750,79755,17,80789793,80789793,Missense_Mutation,SNP,C,T,c.(538-540)Gag>Aag,8,107,0,107
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,LAMA1,284217,18,7011364,7011364,Missense_Mutation,SNP,C,T,c.(3622-3624)Gtc>Atc,24,278,0,183
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,POTEC,388468,18,14537902,14537902,Silent,SNP,A,G,c.(706-708)gaT>gaC,8,178,0,185
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,RIOK3,8780,18,21044253,21044253,Missense_Mutation,SNP,A,G,c.(409-411)Act>Gct,23,107,0,96
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,NPC1,4864,18,21136463,21136463,Missense_Mutation,SNP,G,A,c.(1069-1071)tCg>tTg,7,374,0,249
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,SEMA6B,10501,19,4543995,4543995,Missense_Mutation,SNP,G,A,c.(2284-2286)cCc>cTc,2,0,0,8
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,CLEC4G,339390,19,7794352,7794352,Missense_Mutation,SNP,C,T,c.(781-783)cGc>cAc,17,18,0,69
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,KMT2B,9757,19,36229355,36229355,Missense_Mutation,SNP,G,A,c.(8044-8046)cGt>cAt,29,221,0,172
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,ZNF850,342892,19,37239591,37239591,Missense_Mutation,SNP,A,G,c.(2350-2352)cTc>cCc,5,129,0,116
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,CAPN12,147968,19,39229241,39229241,Silent,SNP,G,A,c.(775-777)caC>caT,5,204,0,192
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,CYP2A13,1553,19,41597802,41597802,Missense_Mutation,SNP,C,T,c.(820-822)Cgc>Tgc,11,45,0,83
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,ZNF497,162968,19,58870792,58870792,Intron,SNP,G,A,,28,47,0,68
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,YTHDF1,54915,20,61834205,61834205,Missense_Mutation,SNP,C,T,c.(1087-1089)Gaa>Aaa,33,85,0,93
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,UBASH3A,53347,21,43838596,43838596,Silent,SNP,G,A,c.(922-924)acG>acA,13,259,0,178
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,COL6A1,1291,21,47404172,47404172,Intron,SNP,G,A,,8,196,0,252
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,MLC1,23209,22,50502556,50502556,Silent,SNP,G,A,c.(964-966)acC>acT,5,257,0,312
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,MAPK8IP2,23542,22,51043205,51043205,Missense_Mutation,SNP,G,A,c.(679-681)gGc>gAc,4,81,0,112
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,CXorf36,79742,X,45011010,45011010,Missense_Mutation,SNP,G,A,c.(1189-1191)Cca>Tca,148,47,0,129
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,ARMCX5,64860,X,101857973,101857973,Missense_Mutation,SNP,T,A,c.(904-906)Tca>Aca,54,30,0,66
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,FRMPD3,84443,X,106845966,106845966,Missense_Mutation,SNP,G,A,c.(4795-4797)cGt>cAt,4,62,0,72
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,XIAP,331,X,123045157,123045157,3'UTR,SNP,G,A,,3,15,0,15
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,IL9R,3581,X,155231152,155231152,Intron,SNP,G,A,,5,204,0,149
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,ORC1,4998,1,52863519,52863521,In_Frame_Del,DEL,AGG,-,c.(238-240)cctdel,55,156,,
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,PKP1,5317,1,201262936,201262937,Intron,INS,-,T,,7,20,,
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,MCF2L2,23101,3,182897413,182897414,Frame_Shift_Del,DEL,CT,-,c.(3172-3174)aggfs,18,57,,
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,MTTP,4547,4,100504544,100504545,Frame_Shift_Ins,INS,-,T,c.(262-267)aatgttfs,30,107,,
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,GFM2,84340,5,74041605,74041607,In_Frame_Del,DEL,ATT,-,c.(745-747)aatdel,16,117,,
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,AGK,55750,7,141333623,141333625,Intron,DEL,CAT,-,,12,17,,
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,CACNA1B,774,9,140968034,140968034,Frame_Shift_Del,DEL,G,-,c.(4768-4770)tggfs,81,91,,
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,SF3B2,10992,11,65825927,65825927,Intron,DEL,T,-,,7,21,,
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,JAM3,83700,11,134018865,134018866,Intron,INS,-,CTGTCTCTCTCT,,3,22,,
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,NRIP1,8204,21,16338701,16338701,Frame_Shift_Del,DEL,T,-,c.(1813-1815)agcfs,14,64,,
RP-1532_PCProject_0161_T1_v2_Exome_OnPrem,Unknown,0,X,99406047,99406049,IGR,DEL,ATT,-,,12,3,,
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,VWA1,64856,1,1374541,1374541,Missense_Mutation,SNP,G,A,c.(712-714)Gca>Aca,5,171,0,128
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,NMNAT1,64802,1,10041329,10041329,Intron,SNP,A,G,,4,27,0,31
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,PAX7,5081,1,19071353,19071353,Missense_Mutation,SNP,G,A,c.(1447-1449)cGt>cAt,47,213,0,162
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,UBR4,23352,1,19455536,19455536,Missense_Mutation,SNP,C,T,c.(8938-8940)aGa>aAa,6,484,0,172
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,EPS15,2060,1,51827033,51827033,Intron,SNP,T,C,,9,71,0,58
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ASH1L,55870,1,155449710,155449710,Missense_Mutation,SNP,C,T,c.(2950-2952)cGc>cAc,5,305,0,106
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,KLHL20,27252,1,173703228,173703228,Missense_Mutation,SNP,G,A,c.(400-402)Gaa>Aaa,5,235,0,140
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ENAH,55740,1,225700728,225700728,Intron,SNP,A,G,,14,75,0,52
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,DNAH6,1768,2,84931373,84931373,Silent,SNP,C,T,c.(8410-8412)ccC>ccT,5,267,0,200
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,RNF103,7844,2,86850935,86850935,De_novo_Start_InFrame,SNP,G,A,,6,430,0,168
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ANKRD36C,400986,2,96555732,96555732,Missense_Mutation,SNP,A,C,c.(2866-2868)caT>caG,5,162,0,60
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,TMEM182,130827,2,103379054,103379054,Silent,SNP,C,T,c.(139-141)aaC>aaT,23,133,0,63
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,VIL1,7429,2,219299320,219299320,Silent,SNP,C,T,c.(1570-1572)ggC>ggT,13,103,0,98
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,STK11IP,114790,2,220473082,220473082,Missense_Mutation,SNP,G,T,c.(1531-1533)gaG>gaT,4,54,0,33
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,FYCO1,79443,3,46021329,46021329,Intron,SNP,A,T,,63,320,0,156
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,KLHL18,23276,3,47378084,47378084,Missense_Mutation,SNP,C,T,c.(958-960)Cgt>Tgt,6,411,0,206
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ADCY5,111,3,123046558,123046558,Silent,SNP,G,A,c.(1852-1854)taC>taT,5,278,0,113
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,NDST4,64579,4,115763834,115763834,Intron,SNP,G,A,,4,69,0,26
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,PCDH18,54510,4,138450908,138450908,Missense_Mutation,SNP,G,A,c.(2335-2337)Cca>Tca,18,185,0,69
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,IRF2,3660,4,185328383,185328383,Intron,SNP,G,T,,46,305,0,125
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,RIOK2,55781,5,96500846,96500846,Missense_Mutation,SNP,T,C,c.(1402-1404)gAa>gGa,3,31,0,26
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,FTMT,94033,5,121187798,121187798,Missense_Mutation,SNP,G,A,c.(139-141)cGc>cAc,11,90,0,74
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,DST,667,6,56505363,56505363,Missense_Mutation,SNP,C,G,c.(1435-1437)Gaa>Caa,7,391,0,168
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,PTPRK,5796,6,128411003,128411003,Missense_Mutation,SNP,G,A,c.(1297-1299)Cgt>Tgt,7,550,0,326
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,SERAC1,84947,6,158571590,158571590,Missense_Mutation,SNP,C,A,c.(160-162)Gcc>Tcc,5,229,0,110
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,TNS3,64759,7,47479239,47479239,5'UTR,SNP,G,A,,5,165,0,121
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,Unknown,0,7,63680589,63680589,IGR,SNP,A,G,,6,190,0,117
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ZNF680,340252,7,63982003,63982003,Missense_Mutation,SNP,A,G,c.(1129-1131)Tcc>Ccc,5,219,0,96
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ZNF107,51427,7,64167936,64167936,Silent,SNP,A,C,c.(1252-1254)ggA>ggC,5,202,0,74
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ZNF107,51427,7,64168362,64168362,Silent,SNP,T,C,c.(1678-1680)gtT>gtC,6,174,0,70
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ZNF92,168374,7,64863829,64863829,Missense_Mutation,SNP,C,T,c.(802-804)Cgg>Tgg,6,373,0,161
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,CCDC146,57639,7,76924079,76924079,Missense_Mutation,SNP,C,G,c.(2764-2766)Cct>Gct,64,361,0,251
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,RBM33,155435,7,155457876,155457876,Silent,SNP,C,T,c.(49-51)gaC>gaT,7,460,0,137
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,SOX17,64321,8,55371728,55371728,Missense_Mutation,SNP,C,T,c.(418-420)Cgg>Tgg,12,81,0,111
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,CSMD3,114788,8,114111058,114111058,Missense_Mutation,SNP,T,C,c.(844-846)Ata>Gta,58,296,0,203
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,EXT1,2131,8,119122949,119122949,Missense_Mutation,SNP,C,T,c.(337-339)Ggc>Agc,6,595,0,222
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,PIGO,84720,9,35091952,35091952,Missense_Mutation,SNP,C,G,c.(1930-1932)gaG>gaC,5,380,0,204
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,PIGO,84720,9,35092197,35092197,Missense_Mutation,SNP,C,T,c.(1687-1689)Gat>Aat,6,295,0,212
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,CACNB2,783,10,18828493,18828493,Missense_Mutation,SNP,G,A,c.(1822-1824)cGt>cAt,67,304,0,129
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,BMI1,648,10,22618271,22618271,Missense_Mutation,SNP,C,T,c.(781-783)Cca>Tca,7,664,0,249
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ST5,6764,11,8724194,8724194,Missense_Mutation,SNP,C,T,c.(2644-2646)aGt>aAt,41,244,1,162
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,CAT,847,11,34482835,34482835,Missense_Mutation,SNP,G,A,c.(1093-1095)cGc>cAc,163,830,0,383
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,EED,8726,11,85989457,85989457,Missense_Mutation,SNP,C,T,c.(1216-1218)Cat>Tat,6,165,0,57
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,KCNA5,3741,12,5155139,5155139,Missense_Mutation,SNP,G,A,c.(1825-1827)cGg>cAg,6,474,0,266
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ATN1,1822,12,7050676,7050676,Silent,SNP,G,A,c.(3496-3498)ccG>ccA,5,387,0,195
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,Unknown,0,12,31289561,31289561,IGR,SNP,C,T,,4,133,0,103
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ABCD2,225,12,40001525,40001525,Intron,SNP,A,T,,63,349,0,162
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,NUPL1,9818,13,25911065,25911065,Intron,SNP,T,A,,5,192,0,65
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,DHRS4,10901,14,24423062,24423062,Missense_Mutation,SNP,C,A,c.(64-66)tCc>tAc,40,354,0,176
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,NUMB,8650,14,73753885,73753885,Silent,SNP,A,T,c.(586-588)cgT>cgA,17,490,0,245
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,TP53BP1,7158,15,43749068,43749068,Missense_Mutation,SNP,C,A,c.(1723-1725)Ggt>Tgt,18,359,0,272
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,DUOXA2,405753,15,45409787,45409787,Intron,SNP,G,A,,5,358,0,187
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,RPL3L,6123,16,1997226,1997226,Silent,SNP,G,T,c.(655-657)gtC>gtA,32,55,0,57
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,RPL3L,6123,16,1997334,1997334,Silent,SNP,G,A,c.(547-549)atC>atT,19,44,0,38
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,METTL22,79091,16,8736061,8736061,Missense_Mutation,SNP,G,A,c.(904-906)Gaa>Aaa,33,241,0,148
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,RSPRY1,89970,16,57255217,57255217,Missense_Mutation,SNP,C,T,c.(1051-1053)Cgt>Tgt,8,294,0,119
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,FBXO31,79791,16,87417227,87417227,Missense_Mutation,SNP,C,T,c.(124-126)Gag>Aag,26,100,0,106
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,TP53,7157,17,7577018,7577018,Splice_Site,SNP,C,T,c.e8+1,98,437,0,401
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,STAT3,6774,17,40481435,40481435,Missense_Mutation,SNP,T,A,c.(1273-1275)aAt>aTt,93,660,0,309
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,TOM1L1,10040,17,52992003,52992003,Missense_Mutation,SNP,G,T,c.(502-504)Gct>Tct,8,253,0,107
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,CCDC178,374864,18,30908087,30908087,Intron,SNP,G,T,,4,49,0,29
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,PIAS2,9063,18,44424037,44424037,Silent,SNP,G,T,c.(1021-1023)Cgg>Agg,4,159,0,60
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,PRAM1,84106,19,8562706,8562706,Silent,SNP,G,A,c.(1516-1518)taC>taT,4,87,0,61
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,PDE4A,5141,19,10543147,10543147,Intron,SNP,C,G,,20,80,0,106
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,LPHN1,22859,19,14294408,14294408,Missense_Mutation,SNP,G,A,c.(7-9)Cgc>Tgc,16,85,0,65
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ZNF100,163227,19,21909767,21909767,Missense_Mutation,SNP,C,T,c.(1345-1347)atG>atA,6,275,1,126
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ZNF729,100287226,19,22497587,22497587,Silent,SNP,G,A,c.(1366-1368)ggG>ggA,6,190,1,149
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ZNF99,7652,19,22941250,22941250,Silent,SNP,A,G,c.(1459-1461)ggT>ggC,5,182,0,153
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ZNF681,148213,19,23926726,23926726,Silent,SNP,G,A,c.(1624-1626)gcC>gcT,5,191,0,97
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ZNF726,730087,19,24116511,24116511,Silent,SNP,C,T,c.(1591-1593)caC>caT,5,273,0,157
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,UBASH3A,53347,21,43863525,43863525,Missense_Mutation,SNP,G,T,c.(1735-1737)Gac>Tac,16,66,0,37
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,MYH9,4627,22,36701970,36701970,Intron,SNP,G,C,,7,437,0,237
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,ATRX,546,X,76764099,76764099,Silent,SNP,G,A,c.(7207-7209)agC>agT,5,213,0,89
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,PASD1,139135,X,150840826,150840826,Missense_Mutation,SNP,C,T,c.(1609-1611)Cgg>Tgg,4,153,0,109
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,GDAP2,54834,1,118454613,118454617,Splice_Site,DEL,TACGA,-,c.(556-561)cttcgt>ctt,5,208,,
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,KLK2,3817,19,51380213,51380214,Frame_Shift_Del,DEL,AG,-,c.(577-582)acagagfs,64,224,,
RP-1532_PCProject_0177_T1_v2_Exome_OnPrem,IL10RB,3588,21,34660561,34660561,Frame_Shift_Del,DEL,A,-,c.(799-801)aaafs,85,588,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,C1orf86,199990,1,2124319,2124319,Intron,SNP,G,A,,10,288,0,130
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RBP7,116362,1,10067035,10067035,Intron,SNP,C,T,,8,169,0,90
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RBP7,116362,1,10067065,10067065,Intron,SNP,T,C,,6,63,0,74
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RBP7,116362,1,10067067,10067067,Intron,SNP,T,C,,5,64,0,71
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PADI4,23569,1,17660831,17660831,Intron,SNP,C,T,,5,45,1,68
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ECE1,1889,1,21585195,21585195,Silent,SNP,G,A,c.(751-753)aaC>aaT,8,405,0,260
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RBBP4,5928,1,33139161,33139161,Intron,SNP,T,C,,7,21,0,29
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,KIAA1522,57648,1,33207591,33207591,Silent,SNP,C,G,c.(34-36)gcC>gcG,15,64,0,24
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,BTBD19,149478,1,45278153,45278153,Intron,SNP,G,A,,7,177,0,123
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TACSTD2,4070,1,59041867,59041867,Missense_Mutation,SNP,G,A,c.(961-963)cCg>cTg,11,94,0,139
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MAGI3,260425,1,114161197,114161197,Missense_Mutation,SNP,G,A,c.(1120-1122)Ggc>Agc,4,58,0,62
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MAGI3,260425,1,114161233,114161233,Intron,SNP,G,T,,4,23,0,58
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MRPS21,54460,1,150273722,150273722,Intron,SNP,T,C,,14,210,0,65
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TCHH,7062,1,152082109,152082109,Missense_Mutation,SNP,C,A,c.(3583-3585)cGg>cTg,5,115,0,265
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,LMNA,4000,1,156100548,156100548,Missense_Mutation,SNP,G,A,c.(496-498)cGg>cAg,63,220,0,212
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CCT3,7203,1,156306934,156306934,Intron,SNP,G,A,,7,107,0,55
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RHBG,57127,1,156340989,156340989,Intron,SNP,T,C,,5,54,0,27
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PEAR1,375033,1,156873794,156873794,Missense_Mutation,SNP,C,A,c.(76-78)Ccc>Acc,28,208,0,176
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,KIRREL,55243,1,158063184,158063184,Silent,SNP,C,T,c.(1525-1527)ctC>ctT,30,112,0,176
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,FCRLA,84824,1,161682974,161682974,Missense_Mutation,SNP,C,T,c.(934-936)cCg>cTg,14,133,0,202
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CENPL,91687,1,173775617,173775617,Intron,SNP,A,G,,9,255,0,163
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CENPL,91687,1,173775686,173775686,Intron,SNP,T,C,,8,110,0,133
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TNR,7143,1,175372517,175372517,Silent,SNP,G,A,c.(733-735)tgC>tgT,58,47,0,211
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RGSL1,353299,1,182427447,182427447,Intron,SNP,T,A,,6,24,0,48
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NVL,4931,1,224500853,224500853,Intron,SNP,G,T,,6,68,0,60
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,KIF26B,55083,1,245851893,245851893,Missense_Mutation,SNP,G,A,c.(5608-5610)Gac>Aac,11,621,0,237
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GEMIN6,79833,2,39006489,39006489,Intron,SNP,T,C,,4,96,0,52
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SLC3A1,6519,2,44545344,44545344,Intron,SNP,T,C,,6,47,0,74
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CCDC93,54520,2,118732444,118732444,Silent,SNP,G,A,c.(781-783)acC>acT,10,74,0,125
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GALNT13,114805,2,155294185,155294185,Intron,SNP,A,G,,4,47,0,69
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MYO3B,140469,2,171381096,171381096,Intron,SNP,T,C,,5,43,0,54
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TTN,7273,2,179444535,179444535,Silent,SNP,T,C,c.(62464-62466)gtA>gtG,11,59,0,258
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CFLAR,8837,2,202018871,202018871,Intron,SNP,A,G,,4,59,0,28
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SPEG,10290,2,220326700,220326700,Missense_Mutation,SNP,G,A,c.(2536-2538)cGa>cAa,4,68,0,116
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,KIF1A,547,2,241700116,241700116,Missense_Mutation,SNP,C,T,c.(2383-2385)Ggg>Agg,7,11,0,46
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GAL3ST2,64090,2,242741392,242741392,Missense_Mutation,SNP,G,A,c.(316-318)Gtg>Atg,7,323,0,260
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZCWPW2,152098,3,28519860,28519860,Intron,SNP,A,G,,5,48,0,61
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,DYNC1LI1,51143,3,32608155,32608155,Intron,SNP,A,G,,8,108,0,97
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ITGA9,3680,3,37774256,37774256,Silent,SNP,C,T,c.(2119-2121)agC>agT,35,197,0,370
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SLC22A14,9389,3,38354942,38354942,Missense_Mutation,SNP,C,T,c.(1129-1131)Ctc>Ttc,16,97,0,167
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,UBA7,7318,3,49841717,49841717,IGR,SNP,G,C,,4,84,1,121
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GLYCTK,132158,3,52327200,52327200,3'UTR,SNP,C,T,,14,130,1,326
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,DNAH1,25981,3,52366276,52366276,Missense_Mutation,SNP,C,G,c.(1150-1152)aaC>aaG,35,132,0,264
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ARL13B,200894,3,93715481,93715481,Intron,SNP,A,C,,6,166,0,108
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,B3GALNT1,8706,3,160807743,160807743,5'UTR,SNP,C,G,,5,49,0,26
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PHC3,80012,3,169868455,169868455,Intron,SNP,T,C,,8,43,0,25
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PHC3,80012,3,169868479,169868479,Intron,SNP,C,T,,6,128,0,29
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,FETUB,26998,3,186362579,186362579,Missense_Mutation,SNP,C,T,c.(463-465)cCa>cTa,4,45,0,69
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TP63,8626,3,189562086,189562086,Intron,SNP,A,G,,5,67,0,59
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,LRRC15,131578,3,194080091,194080091,Missense_Mutation,SNP,C,T,c.(1681-1683)tGt>tAt,32,98,0,174
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,APOD,347,3,195303972,195303972,Intron,SNP,T,C,,9,77,0,40
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,KIAA0226,9711,3,197421036,197421036,Intron,SNP,C,A,,7,80,0,129
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZNF141,7700,4,352094,352094,Intron,SNP,C,A,,4,34,0,33
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,HAUS3,79441,4,2230149,2230149,3'UTR,SNP,C,T,,7,130,0,43
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SEPSECS,51091,4,25161196,25161196,Intron,SNP,T,C,,12,147,0,86
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,DCK,1633,4,71894369,71894369,Intron,SNP,A,G,,4,88,0,76
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NFKB1,4790,4,103527663,103527663,Missense_Mutation,SNP,A,G,c.(1759-1761)cAc>cGc,16,42,0,152
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SEC24B,10427,4,110370651,110370651,Intron,SNP,T,G,,9,229,0,148
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,USP38,84640,4,144125610,144125610,Intron,SNP,A,T,,5,76,0,62
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,IRF2,3660,4,185349858,185349858,Intron,SNP,T,C,,6,164,0,118
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SEMA5A,9037,5,9054282,9054282,Missense_Mutation,SNP,G,A,c.(2605-2607)tCc>tTc,12,87,0,136
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZNF131,7690,5,43120115,43120115,5'Flank,SNP,A,G,,5,72,0,44
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PARP8,79668,5,50037730,50037730,Intron,SNP,G,A,,6,151,0,89
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PDLIM4,8572,5,131607235,131607235,Intron,SNP,G,A,,16,185,0,251
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GFPT2,9945,5,179740851,179740851,Missense_Mutation,SNP,C,T,c.(1387-1389)Gtc>Atc,68,202,0,141
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,DUSP22,56940,6,304619,304619,Intron,SNP,C,G,,32,165,0,236
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,LYRM4,57128,6,5113630,5113630,Intron,SNP,T,C,,4,82,0,62
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,KIF13A,63971,6,17881756,17881756,Intron,SNP,T,C,,7,87,0,83
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,DPCR1,135656,6,30918725,30918725,Missense_Mutation,SNP,G,C,c.(2482-2484)agG>agC,6,157,1,304
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TAF8,129685,6,42039126,42039126,Intron,SNP,A,C,,4,19,0,9
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GLTSCR1L,23506,6,42820126,42820126,Intron,SNP,A,G,,5,86,0,127
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,KCNQ5,56479,6,73904416,73904416,Missense_Mutation,SNP,C,T,c.(2077-2079)aCg>aTg,25,26,1,298
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PRDM13,59336,6,100056646,100056646,Silent,SNP,C,T,c.(172-174)gaC>gaT,4,20,0,51
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RP11-510H23.1,0,6,125232758,125232758,RNA,SNP,A,C,,8,29,0,64
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SAMD3,154075,6,130504413,130504413,Intron,SNP,C,T,,7,54,0,79
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SAMD3,154075,6,130504414,130504414,Intron,SNP,G,A,,5,56,0,86
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RP11-307P5.1,0,6,148051156,148051156,lincRNA,SNP,T,G,,6,9,0,51
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PLEKHG1,57480,6,151130291,151130291,Silent,SNP,C,T,c.(961-963)taC>taT,8,65,0,96
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,DACT2,168002,6,168709110,168709110,Missense_Mutation,SNP,T,C,c.(1327-1329)Agc>Ggc,9,205,0,243
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,EIF2AK1,27102,7,6097783,6097783,Intron,SNP,A,G,,11,400,1,188
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SNX13,23161,7,17922558,17922558,Missense_Mutation,SNP,G,A,c.(448-450)cCc>cTc,4,23,0,36
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,POU6F2,11281,7,39247106,39247106,Missense_Mutation,SNP,G,A,c.(397-399)gGc>gAc,64,156,0,278
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,C7orf10,0,7,40257101,40257101,Intron,SNP,G,A,,5,60,0,68
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,HECW1,23072,7,43562696,43562696,Intron,SNP,A,G,,8,58,0,41
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CRCP,27297,7,65595188,65595188,Intron,SNP,A,G,,3,20,0,17
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NCF1,653361,7,74192714,74192714,Intron,SNP,C,T,,6,171,0,130
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TRIP6,7205,7,100468697,100468697,Intron,SNP,G,C,,9,418,0,154
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TRIP6,7205,7,100468767,100468767,Intron,SNP,A,C,,13,186,0,104
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MYL10,93408,7,101272318,101272318,Intron,SNP,T,C,,4,96,0,54
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SYPL1,6856,7,105733051,105733051,Intron,SNP,G,A,,6,85,0,45
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SYPL1,6856,7,105733064,105733064,Intron,SNP,T,A,,6,118,0,46
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NDUFB2,4708,7,140395950,140395950,5'Flank,SNP,G,A,,7,278,0,155
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RP11-1220K2.2,0,7,141864764,141864764,Missense_Mutation,SNP,G,A,c.(2593-2595)Gtc>Atc,9,30,0,102
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NOS3,4846,7,150700420,150700420,Missense_Mutation,SNP,C,G,c.(1774-1776)Ccc>Gcc,7,145,1,91
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CA13,377677,8,86162073,86162073,Intron,SNP,C,A,,4,25,0,45
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SLC7A13,157724,8,87227807,87227807,Intron,SNP,T,C,,7,34,0,66
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,FAM92A1,137392,8,94736759,94736759,Intron,SNP,C,G,,6,192,0,108
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,C8orf17,100507249,8,140944744,140944744,Missense_Mutation,SNP,C,T,c.(214-216)aCg>aTg,6,161,0,167
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,DGAT1,8694,8,145541878,145541878,Intron,SNP,T,A,,56,57,0,58
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,DOCK8,81704,9,446558,446558,Silent,SNP,C,T,c.(5767-5769)caC>caT,10,40,0,147
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SMARCA2,6595,9,2191388,2191388,Missense_Mutation,SNP,G,A,c.(4717-4719)Gat>Aat,7,107,0,111
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,IFT74,80173,9,26982372,26982372,Intron,SNP,T,C,,11,371,0,219
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ACO1,48,9,32445623,32445623,Intron,SNP,T,C,,6,52,0,51
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TLN1,7094,9,35720069,35720069,Silent,SNP,G,A,c.(1429-1431)agC>agT,4,32,0,54
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PRKACG,5568,9,71628408,71628408,Missense_Mutation,SNP,C,T,c.(601-603)Ggg>Agg,19,83,0,292
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,IDNK,414328,9,86241515,86241515,Intron,SNP,T,A,,6,174,0,111
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,FANCC,2176,9,97885668,97885668,Intron,SNP,C,T,,5,50,0,97
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ACTL7B,10880,9,111617666,111617666,Missense_Mutation,SNP,G,A,c.(544-546)tCg>tTg,6,111,0,147
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,C5,727,9,123762229,123762229,Intron,SNP,T,C,,4,46,0,58
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GBGT1,26301,9,136035608,136035608,Intron,SNP,A,G,,5,85,0,69
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SARDH,1757,9,136590689,136590689,Intron,SNP,A,T,,7,160,0,85
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SNAPC4,6621,9,139273292,139273292,Missense_Mutation,SNP,G,A,c.(2986-2988)gCc>gTc,9,16,0,67
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SUV39H2,79723,10,14941212,14941212,Intron,SNP,A,G,,8,187,0,127
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GAD2,2572,10,26505820,26505820,Intron,SNP,A,T,,25,38,0,131
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ITGB1,3688,10,33195405,33195405,Intron,SNP,G,C,,10,55,0,22
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,WDFY4,57705,10,50022113,50022113,Missense_Mutation,SNP,G,C,c.(5326-5328)Gcc>Ccc,7,43,0,74
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,UNC5B,219699,10,73057802,73057802,Missense_Mutation,SNP,G,A,c.(2626-2628)cGg>cAg,5,67,0,90
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,HPSE2,60495,10,100503807,100503807,Missense_Mutation,SNP,G,A,c.(616-618)tCt>tTt,9,88,0,266
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ATRNL1,26033,10,117357304,117357304,Intron,SNP,T,C,,3,3,0,57
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GFRA1,2674,10,117986281,117986281,Intron,SNP,A,G,,9,9,0,28
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NSMCE4A,54780,10,123721539,123721539,Intron,SNP,T,C,,4,40,0,47
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NSMCE4A,54780,10,123721547,123721547,Intron,SNP,T,C,,5,46,1,52
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,KCNQ1,3784,11,2549207,2549207,Missense_Mutation,SNP,G,A,c.(436-438)Gag>Aag,85,165,0,312
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RRM1,6240,11,4126848,4126848,Intron,SNP,C,T,,9,98,0,50
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ARFIP2,23647,11,6499399,6499399,Silent,SNP,C,T,c.(565-567)caG>caA,16,64,0,113
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,IPO7,10527,11,9413770,9413770,Intron,SNP,A,G,,6,50,0,23
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZNF143,7702,11,9549132,9549132,Missense_Mutation,SNP,A,C,c.(1888-1890)cAa>cCa,90,224,0,145
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PDE3B,5140,11,14666523,14666523,Missense_Mutation,SNP,G,A,c.(901-903)gGa>gAa,6,158,0,104
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RPS13,6207,11,17098075,17098075,Intron,SNP,A,C,,16,236,0,47
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ELP4,26610,11,31703559,31703559,Intron,SNP,A,G,,4,62,0,44
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TCP11L1,55346,11,33078163,33078163,Intron,SNP,T,C,,9,63,0,30
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CHST1,8534,11,45671652,45671652,Silent,SNP,C,T,c.(820-822)acG>acA,5,135,0,184
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ARHGAP1,392,11,46699414,46699414,3'UTR,SNP,T,C,,7,88,0,74
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,OR5L2,26338,11,55594808,55594808,Silent,SNP,G,A,c.(112-114)acG>acA,11,39,0,119
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,BTBD18,643376,11,57513176,57513176,Missense_Mutation,SNP,G,A,c.(568-570)cCc>cTc,5,62,0,200
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SLC3A2,6520,11,62644333,62644333,Intron,SNP,G,C,,8,156,0,69
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SLC3A2,6520,11,62644334,62644334,Intron,SNP,G,A,,9,155,0,69
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SLC29A2,3177,11,66136653,66136653,Missense_Mutation,SNP,C,T,c.(292-294)cGc>cAc,66,354,0,358
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SYTL2,54843,11,85419096,85419096,Intron,SNP,G,C,,6,44,0,35
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TMEM135,65084,11,86988363,86988363,Intron,SNP,A,G,,5,71,0,49
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TMEM135,65084,11,86988442,86988442,Intron,SNP,A,G,,4,17,0,22
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ACAT1,38,11,107992360,107992360,Silent,SNP,C,G,c.(25-27)cgC>cgG,334,754,0,448
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ST14,6768,11,130060525,130060525,Missense_Mutation,SNP,C,T,c.(811-813)Cgc>Tgc,14,312,0,228
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ERC1,23085,12,1353735,1353735,Intron,SNP,A,T,,14,216,0,142
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NOP2,4839,12,6673334,6673334,Intron,SNP,T,C,,4,68,0,100
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PKP2,5318,12,32996124,32996124,Missense_Mutation,SNP,T,C,c.(1501-1503)gAc>gGc,4,46,0,67
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SLC48A1,55652,12,48174380,48174380,3'UTR,SNP,T,C,,5,30,0,79
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,R3HDM2,22864,12,57648849,57648849,Missense_Mutation,SNP,G,A,c.(2638-2640)Cgt>Tgt,4,40,0,50
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MDM2,4193,12,69209429,69209429,Intron,SNP,C,G,,7,163,0,81
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NAV3,89795,12,78537193,78537193,Intron,SNP,T,C,,4,54,0,61
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MAPKAPK5,8550,12,112306552,112306552,Intron,SNP,A,C,,10,93,0,145
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,FZD10,11211,12,130648699,130648699,Nonsense_Mutation,SNP,C,A,c.(1210-1212)tgC>tgA,8,74,0,149
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CHFR,55743,12,133438931,133438931,Intron,SNP,T,C,,4,25,0,45
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,DOCK9,23348,13,99537683,99537683,Intron,SNP,T,C,,5,102,0,48
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TPP2,7174,13,103260046,103260046,Intron,SNP,T,C,,9,121,0,114
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,LINC00283,100874057,13,103396526,103396526,RNA,SNP,C,T,,8,16,0,146
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RPGRIP1,57096,14,21786350,21786350,Intron,SNP,T,C,,10,232,1,149
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,AP4S1,11154,14,31552823,31552823,Intron,SNP,A,G,,6,170,0,86
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,FOXA1,3169,14,38061334,38061334,Missense_Mutation,SNP,G,T,c.(655-657)Cgc>Agc,26,60,0,123
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RPS6KA5,9252,14,91518727,91518727,Intron,SNP,A,G,,4,76,0,55
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ATXN3,4287,14,92572905,92572905,5'UTR,SNP,G,T,,113,99,0,145
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RTL1,388015,14,101349439,101349439,Missense_Mutation,SNP,C,T,c.(1687-1689)Gcc>Acc,10,40,0,123
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,DIO3,1735,14,102027945,102027945,Missense_Mutation,SNP,C,T,c.(112-114)Ctc>Ttc,52,342,0,247
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,WDR20,91833,14,102664725,102664725,Intron,SNP,A,G,,4,22,0,27
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,KNSTRN,90417,15,40681426,40681426,Intron,SNP,C,T,,5,70,0,77
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,KNSTRN,90417,15,40681436,40681436,Intron,SNP,G,A,,5,51,0,69
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PPP1R14D,54866,15,41109471,41109471,Intron,SNP,A,C,,7,94,0,68
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,DMXL2,23312,15,51763563,51763563,Missense_Mutation,SNP,G,A,c.(7246-7248)Cgt>Tgt,4,16,0,72
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,IGDCC3,9543,15,65621464,65621464,Missense_Mutation,SNP,G,A,c.(2227-2229)cCg>cTg,4,58,0,98
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RPLP1,6176,15,69751165,69751165,IGR,SNP,A,G,,5,42,0,35
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PML,5371,15,74315583,74315583,Silent,SNP,C,T,c.(1015-1017)taC>taT,38,66,0,217
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SNUPN,10073,15,75917175,75917175,5'UTR,SNP,A,G,,4,32,0,32
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,DNM1P46,196968,15,100330382,100330382,RNA,SNP,A,G,,4,55,0,62
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CTD-2054N24.2,0,15,100353261,100353261,Silent,SNP,A,G,c.(214-216)ctA>ctG,7,123,0,183
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MSLN,10232,16,815683,815683,Intron,SNP,G,A,,8,224,0,142
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,C16orf96,342346,16,4625942,4625942,Silent,SNP,G,T,c.(1459-1461)ggG>ggT,6,88,2,205
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,COQ7,10229,16,19089417,19089417,Silent,SNP,C,G,c.(589-591)gcC>gcG,86,163,0,134
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TMC5,79838,16,19481067,19481067,Silent,SNP,C,T,c.(1702-1704)Ctg>Ttg,43,104,0,219
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,C16orf62,57020,16,19589635,19589635,Intron,SNP,A,G,,9,201,0,133
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ACSM3,6296,16,20792291,20792291,Intron,SNP,C,T,,6,23,0,105
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZNF646,9726,16,31088011,31088011,Silent,SNP,G,A,c.(364-366)gtG>gtA,4,36,0,93
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ADCY7,113,16,50323213,50323213,Intron,SNP,T,C,,4,87,0,71
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,LRRC36,55282,16,67396151,67396151,Intron,SNP,T,C,,5,89,0,57
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PRMT7,54496,16,68356277,68356277,Intron,SNP,G,T,,6,104,1,124
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PRMT7,54496,16,68356281,68356281,Intron,SNP,T,A,,5,116,0,130
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,VPS4A,27183,16,69357610,69357610,Intron,SNP,C,T,,7,72,0,100
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SNAI3,333929,16,88747529,88747529,Missense_Mutation,SNP,G,T,c.(670-672)Ctg>Atg,8,17,0,75
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CDK10,8558,16,89754106,89754106,Intron,SNP,A,G,,6,48,1,57
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SPIRE2,84501,16,89927187,89927187,Missense_Mutation,SNP,C,G,c.(1558-1560)gCc>gGc,5,5,0,54
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,OR1A1,8383,17,3119138,3119138,Missense_Mutation,SNP,C,T,c.(223-225)tCg>tTg,4,6,0,154
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZMYND15,84225,17,4647357,4647357,Missense_Mutation,SNP,C,A,c.(1450-1452)Ccg>Acg,112,95,0,216
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RPAIN,84268,17,5328765,5328765,Intron,SNP,T,C,,3,5,0,29
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,C1QBP,708,17,5334654,5334654,IGR,SNP,G,A,,5,40,0,48
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TP53,7157,17,7577022,7577022,Nonsense_Mutation,SNP,G,A,c.(916-918)Cga>Tga,181,101,0,577
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,KDM6B,23135,17,7756415,7756415,Missense_Mutation,SNP,G,A,c.(4708-4710)Gag>Aag,67,622,0,432
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,DRG2,1819,17,18001652,18001652,Silent,SNP,G,A,c.(292-294)acG>acA,7,138,0,116
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MLLT6,4302,17,36879021,36879021,Splice_Site,SNP,G,A,c.(2881-2883)ccG>ccA,6,160,0,112
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,WNK4,65266,17,40945893,40945893,Intron,SNP,T,C,,10,184,0,88
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MILR1,284021,17,62464429,62464429,3'UTR,SNP,G,A,,7,183,0,106
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MILR1,284021,17,62464434,62464434,3'UTR,SNP,C,T,,6,171,0,105
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NARF,26502,17,80441097,80441097,Intron,SNP,C,A,,5,64,0,31
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MBD1,4152,18,47800170,47800170,Missense_Mutation,SNP,G,A,c.(1210-1212)Cgt>Tgt,6,162,0,277
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MBD3,53615,19,1575257,1575257,IGR,SNP,T,C,,7,86,0,79
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MBD3,53615,19,1575265,1575265,IGR,SNP,T,C,,17,92,0,75
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,HDGFRP2,0,19,4496940,4496940,Intron,SNP,A,G,,6,88,0,63
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,HDGFRP2,0,19,4496973,4496973,Intron,SNP,C,T,,4,37,1,38
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CATSPERD,257062,19,5772262,5772262,Intron,SNP,A,G,,4,11,1,23
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,DHPS,1725,19,12791837,12791837,Intron,SNP,A,G,,4,52,0,30
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SMIM7,79086,19,16770065,16770065,Intron,SNP,A,G,,5,107,0,56
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GTPBP3,84705,19,17452040,17452040,Missense_Mutation,SNP,C,T,c.(1162-1164)Cct>Tct,118,173,0,279
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,IL12RB1,3594,19,18182109,18182109,Intron,SNP,A,G,,7,124,0,100
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MAST3,23031,19,18242795,18242795,Silent,SNP,G,A,c.(1420-1422)acG>acA,8,368,0,337
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZNF737,100129842,19,20728086,20728086,Missense_Mutation,SNP,C,G,c.(922-924)aGc>aCc,4,77,1,281
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZNF724P,440519,19,23405373,23405373,Silent,SNP,T,G,c.(1672-1674)ggA>ggC,4,48,0,255
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZNF850,342892,19,37239684,37239684,Missense_Mutation,SNP,C,T,c.(2257-2259)gGt>gAt,4,22,0,185
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZNF829,374899,19,37406743,37406743,Intron,SNP,T,C,,5,168,0,99
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,HKR1,284459,19,37850409,37850409,Intron,SNP,A,G,,4,44,0,42
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,HKR1,284459,19,37850414,37850414,Intron,SNP,C,T,,5,36,0,44
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZNF112,7771,19,44832417,44832417,Silent,SNP,G,A,c.(1909-1911)ttC>ttT,4,48,1,180
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZNF112,7771,19,44832420,44832420,Silent,SNP,T,A,c.(1906-1908)ccA>ccT,4,49,1,177
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NUP62,23636,19,50410836,50410836,3'UTR,SNP,T,C,,6,77,0,55
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZNF761,388561,19,53958988,53958988,RNA,SNP,T,C,,5,81,1,311
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NLRP8,126205,19,56466055,56466055,Missense_Mutation,SNP,G,T,c.(631-633)Gct>Tct,12,40,0,223
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZNF776,284309,19,58265792,58265792,Missense_Mutation,SNP,T,C,c.(1294-1296)Tat>Cat,5,68,0,241
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZNF814,730051,19,58385832,58385832,Missense_Mutation,SNP,A,G,c.(925-927)gTt>gCt,9,15,1,200
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZNF274,10782,19,58723866,58723866,Missense_Mutation,SNP,T,C,c.(1315-1317)tTg>tCg,6,131,1,307
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,EBF4,57593,20,2732387,2732387,Nonsense_Mutation,SNP,C,T,c.(1060-1062)Cag>Tag,26,219,0,154
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CRNKL1,51340,20,20031110,20031110,Intron,SNP,T,C,,8,13,0,43
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CTCFL,140690,20,56075406,56075406,Intron,SNP,A,G,,4,50,0,43
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,KRTAP11-1,337880,21,32253752,32253752,Missense_Mutation,SNP,G,T,c.(91-93)aCc>aAc,11,75,0,164
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TMPRSS3,64699,21,43792498,43792498,3'UTR,SNP,G,A,,6,180,1,142
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PPIL2,23759,22,22040008,22040008,3'UTR,SNP,A,G,,7,66,0,87
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SPECC1L,23384,22,24739473,24739473,Intron,SNP,C,G,,8,177,1,105
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SPECC1L,23384,22,24739531,24739531,Intron,SNP,T,C,,8,67,0,61
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,KCTD17,79734,22,37457648,37457648,Missense_Mutation,SNP,G,T,c.(874-876)cGc>cTc,7,111,0,110
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RRP7A,27341,22,42912358,42912358,Intron,SNP,T,A,,6,71,0,116
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SERHL2,253190,22,42959401,42959401,Intron,SNP,A,G,,6,54,0,59
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ARHGAP8,23779,22,45204614,45204614,Intron,SNP,T,C,,4,60,0,85
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GYG2,8908,X,2761057,2761057,Missense_Mutation,SNP,G,T,c.(25-27)gGt>gTt,5,20,0,57
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ERCC6L,54821,X,71458698,71458698,Silent,SNP,G,A,c.(64-66)Cta>Tta,4,68,0,61
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TMEM164,84187,X,109298554,109298554,Intron,SNP,G,A,,4,52,0,68
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,XIAP,331,X,123046776,123046776,3'UTR,SNP,G,A,,4,40,0,48
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,XIAP,331,X,123047301,123047301,3'UTR,SNP,T,C,,5,70,0,78
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,FAM3A,60343,X,153740656,153740656,Intron,SNP,G,A,,4,97,0,33
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NIPAL3,57185,1,24780692,24780693,Intron,INS,-,T,,22,0,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SRSF4,6429,1,29475405,29475406,Frame_Shift_Ins,INS,-,A,c.(1000-1002)agcfs,4,23,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MTF1,4520,1,38322966,38322967,Frame_Shift_Ins,INS,-,C,c.(364-366)accfs,3,6,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RIMS3,9783,1,41094384,41094385,Intron,INS,-,T,,2,9,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,BTBD19,149478,1,45277902,45277905,Intron,DEL,CCAA,-,,8,2,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,STRIP1,85369,1,110586197,110586201,Intron,DEL,GGCTG,-,,4,37,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MAGI3,260425,1,113993142,113993143,Intron,INS,-,GC,,4,0,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PDE4DIP,9659,1,144874999,144875002,Intron,DEL,GGAC,-,,1,3,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RORC,6097,1,151804006,151804007,Intron,INS,-,GC,,3,8,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TCHH,7062,1,152084988,152084990,In_Frame_Del,DEL,GTC,-,c.(703-705)gacdel,13,86,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,LOR,4014,1,153233986,153233987,In_Frame_Ins,INS,-,GGCGGA,c.(562-564)ggc>GGCGGAggc,4,142,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,DENND4B,9909,1,153903370,153903371,Intron,INS,-,GA,,3,15,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CD1E,913,1,158326305,158326305,Frame_Shift_Del,DEL,C,-,c.(922-924)ctcfs,9,36,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ARHGAP30,257106,1,161022036,161022036,Intron,DEL,G,-,,9,39,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,HMCN1,83872,1,186147489,186147490,Intron,INS,-,G,,5,17,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ASPM,259266,1,197072310,197072312,In_Frame_Del,DEL,ACA,-,c.(6067-6072)gctgta>gca,2,14,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PKP1,5317,1,201262936,201262937,Intron,INS,-,T,,4,4,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ATP2B4,493,1,203691519,203691521,Intron,DEL,ATA,-,,0,3,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SPAST,6683,2,32288728,32288729,5'UTR,INS,-,G,,3,4,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NEB,4703,2,152490167,152490168,Intron,INS,-,T,,4,3,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,UNC80,285175,2,210837777,210837778,Intron,INS,-,T,,3,17,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CCDC108,255101,2,219868679,219868683,Frame_Shift_Del,DEL,GATGG,-,c.(5545-5550)gccatcfs,3,11,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NGEF,25791,2,233755765,233755766,Intron,INS,-,C,,3,16,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ATG4B,23192,2,242607795,242607796,Intron,DEL,GC,-,,4,28,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TRANK1,9881,3,36873943,36873944,Frame_Shift_Del,DEL,GC,-,c.(6997-6999)ggcfs,3,21,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TMIE,259236,3,46750959,46750960,Intron,INS,-,AA,,3,4,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SETD2,29072,3,47103627,47103628,Intron,INS,-,A,,4,8,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,POC1A,25886,3,52159281,52159282,Intron,DEL,TG,-,,4,4,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CACNA1D,776,3,53804026,53804026,Frame_Shift_Del,DEL,C,-,c.(3895-3897)gtcfs,12,66,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GAP43,2596,3,115342399,115342401,5'UTR,DEL,GGG,-,,4,5,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TM4SF19,116211,3,196046842,196046843,Intron,DEL,AG,-,,7,8,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PHOX2B,8929,4,41749845,41749847,Intron,DEL,AGA,-,,6,4,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,BMP2K,55589,4,79799814,79799814,Intron,DEL,T,-,,7,4,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,EDNRA,1909,4,148460900,148460901,Intron,DEL,AC,-,,2,0,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TMEM184C,55751,4,148552785,148552786,Intron,INS,-,TC,,4,0,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CTSO,1519,4,156864292,156864293,Intron,DEL,CA,-,,3,10,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PARP8,79668,5,50037824,50037825,Intron,INS,-,G,,7,4,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,COL4A3BP,10087,5,74696114,74696114,Frame_Shift_Del,DEL,A,-,c.(1024-1026)agtfs,4,20,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TMEM167A,153339,5,82361034,82361035,Intron,INS,-,G,,4,1,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NR2F1,7025,5,92924218,92924219,Intron,INS,-,G,,1,1,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ALDH7A1,501,5,125930931,125930932,5'UTR,INS,-,T,,8,30,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,Unknown,0,6,3978606,3978607,IGR,INS,-,CATG,,3,6,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NUP153,9972,6,17626041,17626043,In_Frame_Del,DEL,GCA,-,c.(3895-3900)tctgca>tca,4,6,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TREM2,54209,6,41130647,41130647,Intron,DEL,T,-,,0,9,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GCLC,2729,6,53371637,53371641,Intron,DEL,TGCAT,-,,3,6,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ROS1,6098,6,117649924,117649925,Intron,INS,-,T,,3,20,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,HOXA10,3206,7,27210707,27210708,3'UTR,INS,-,G,,2,29,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,WBSCR17,64409,7,71176924,71176924,Intron,DEL,T,-,,6,38,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TAC1,6863,7,97363021,97363022,Intron,INS,-,T,,6,29,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,6,16,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,FBXL13,222235,7,102667893,102667895,Splice_Site,DEL,TAC,-,c.e5+1,3,4,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,C7orf49,78996,7,134851410,134851411,Frame_Shift_Ins,INS,-,A,c.(424-429)gaggagfs,6,40,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ABCF2,10061,7,150916068,150916069,Intron,INS,-,G,,1,13,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,KMT2C,58508,7,151841820,151841821,Frame_Shift_Ins,INS,-,A,c.(14320-14322)tatfs,15,16,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,HTRA4,203100,8,38836869,38836869,Intron,DEL,A,-,,2,5,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GINS4,84296,8,41399683,41399684,3'UTR,INS,-,CC,,4,15,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NSMAF,8439,8,59520535,59520539,Intron,DEL,ACAAG,-,,4,1,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ESRP1,54845,8,95686506,95686507,Intron,INS,-,C,,6,31,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,IFT74,80173,9,26980434,26980435,Intron,INS,-,TA,,6,4,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CD72,971,9,35616262,35616262,Frame_Shift_Del,DEL,A,-,c.(364-366)tctfs,3,24,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GBA2,57704,9,35749945,35749946,5'Flank,INS,-,CC,,4,4,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZNF618,114991,9,116810078,116810080,Intron,DEL,ATT,-,,6,2,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ZER1,10444,9,131512917,131512918,Frame_Shift_Ins,INS,-,G,c.(1336-1338)atgfs,8,55,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CDC123,8872,10,12277184,12277185,Intron,INS,-,A,,3,6,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RET,5979,10,43615375,43615375,Intron,DEL,T,-,,1,2,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,HK1,3098,10,71048667,71048668,Intron,INS,-,G,,4,9,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,COX15,1355,10,101486597,101486598,Intron,DEL,CA,-,,3,5,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PRDX3,10935,10,120938409,120938410,5'Flank,INS,-,AGT,,7,8,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MUC5B,727897,11,1273029,1273031,Intron,DEL,GGG,-,,4,0,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PAX6,5080,11,31824501,31824502,Intron,DEL,GG,-,,3,5,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CD59,966,11,33743830,33743830,Intron,DEL,G,-,,0,28,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,OR5R1,219479,11,56185002,56185003,Frame_Shift_Ins,INS,-,C,c.(706-708)aaafs,3,17,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,INCENP,3619,11,61908362,61908363,Intron,INS,-,A,,4,14,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NRXN2,9379,11,64419696,64419697,Intron,DEL,GA,-,,4,8,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,C11orf80,79703,11,66515816,66515817,Intron,INS,-,G,,6,14,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TMPRSS4-AS1,100526771,11,117900221,117900222,RNA,INS,-,AT,,3,0,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PVRL1,5818,11,119548149,119548149,Intron,DEL,A,-,,3,12,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ROBO4,54538,11,124766707,124766708,Intron,INS,-,C,,3,4,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ROBO4,54538,11,124766717,124766718,Intron,INS,-,C,,10,9,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ALG10,84920,12,34176846,34176847,Intron,INS,-,T,,3,14,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,AQP2,359,12,50348248,50348249,Intron,INS,-,A,,6,25,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GALNT6,11226,12,51748116,51748117,3'UTR,INS,-,A,,3,3,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ACVRL1,94,12,52314481,52314482,Intron,INS,-,AGG,,10,40,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,COPZ1,22818,12,54740638,54740639,Intron,INS,-,CTG,,4,1,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PAN2,9924,12,56716743,56716744,Intron,INS,-,T,,5,10,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CCER1,196477,12,91347677,91347678,Frame_Shift_Ins,INS,-,T,c.(841-843)gagfs,4,21,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,LRRC43,254050,12,122685190,122685191,Frame_Shift_Ins,INS,-,A,c.(1603-1605)gagfs,7,46,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TEP1,7011,14,20874341,20874341,Intron,DEL,A,-,,3,7,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TRAV18,28665,14,22470650,22470650,RNA,DEL,G,-,,6,6,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,BATF,10538,14,75991560,75991560,Intron,DEL,G,-,,5,36,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MIR381HG,378881,14,101513556,101513557,lincRNA,INS,-,T,,5,37,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,HCN4,10021,15,73615751,73615752,Frame_Shift_Ins,INS,-,A,c.(2680-2685)acaccafs,4,23,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SEMA7A,8482,15,74710404,74710405,Intron,INS,-,TC,,3,5,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PAQR4,124222,16,3021065,3021065,Intron,DEL,A,-,,1,1,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ALG1,56052,16,5123355,5123356,Intron,INS,-,G,,9,12,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,C16orf62,57020,16,19638927,19638928,Intron,INS,-,T,,1,5,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,FUS,2521,16,31199560,31199561,Intron,DEL,CC,-,,5,20,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,Unknown,0,16,33953958,33953958,IGR,DEL,T,-,,2,6,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,KATNB1,10300,16,57788669,57788670,Intron,INS,-,CAAA,,3,0,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,HPR,3250,16,72107674,72107675,Intron,INS,-,AC,,19,47,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,GALNS,2588,16,88889205,88889206,Intron,INS,-,C,,4,32,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CTD-2555A7.2,0,16,89119193,89119198,lincRNA,DEL,TATTCT,-,,6,76,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PITPNM3,83394,17,6387150,6387155,Intron,DEL,TGTGCG,-,,6,64,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,ALOX12B,242,17,7976761,7976762,Intron,INS,-,C,,8,17,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TMEM199,147007,17,26682703,26682704,5'Flank,INS,-,CT,,3,2,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,NF1,4763,17,29579844,29579845,Intron,DEL,GA,-,,3,4,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SOCS7,30837,17,36508039,36508040,5'Flank,INS,-,A,,6,4,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RARA,5914,17,38512652,38512652,3'UTR,DEL,G,-,,1,18,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MAPT,4137,17,44087585,44087586,Intron,DEL,CA,-,,6,45,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,COIL,8161,17,55028040,55028041,Frame_Shift_Ins,INS,-,G,c.(562-564)aagfs,1,25,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,FTSJ3,117246,17,61901450,61901451,Frame_Shift_Del,DEL,AA,-,c.(1147-1149)ttgfs,0,31,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,HID1,283987,17,72960085,72960085,Intron,DEL,A,-,,3,3,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,C1QTNF1,114897,17,77039508,77039511,Intron,DEL,CTGT,-,,14,34,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MYOM1,8736,18,3149053,3149055,Intron,DEL,TTA,-,,3,12,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PIAS2,9063,18,44497427,44497432,5'Flank,DEL,TTAAGA,-,,3,21,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,APBA3,9546,19,3752755,3752756,Intron,INS,-,C,,2,18,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,HDGFRP2,0,19,4496990,4496990,Intron,DEL,C,-,,8,10,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,FBN3,84467,19,8152659,8152660,Intron,INS,-,T,,4,15,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,PALM3,342979,19,14164592,14164593,Frame_Shift_Ins,INS,-,C,c.(1846-1848)gagfs,4,26,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,CYP4F8,11283,19,15729137,15729137,RNA,DEL,G,-,,10,44,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MYO9B,4650,19,17212549,17212550,Frame_Shift_Del,DEL,AG,-,c.(22-24)agcfs,5,37,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SLC27A1,376497,19,17615693,17615693,3'UTR,DEL,T,-,,9,60,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,UNC13A,23025,19,17766980,17766985,In_Frame_Del,DEL,AGGAAG,-,c.(988-996)gacttcctg>gag,2,35,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,FCHO1,23149,19,17887364,17887365,Intron,INS,-,A,,3,13,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,FKBP8,23770,19,18652477,18652478,Intron,INS,-,C,,2,13,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,FKBP8,23770,19,18653795,18653796,Intron,INS,-,T,,6,2,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,COMP,1311,19,18900498,18900499,Intron,INS,-,A,,3,0,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,HPN,3249,19,35532843,35532844,5'UTR,INS,-,T,,4,16,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,IGSF23,147710,19,45127290,45127291,Intron,INS,-,A,,3,6,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,BCAM,4059,19,45315189,45315190,Intron,DEL,CA,-,,8,0,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,FUT1,2523,19,49254370,49254371,Frame_Shift_Ins,INS,-,A,c.(166-171)tgcctgfs,1,9,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,FPR2,2358,19,52271944,52271945,Frame_Shift_Ins,INS,-,GG,c.(34-36)tatfs,4,7,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SSC5D,284297,19,56029967,56029968,Frame_Shift_Ins,INS,-,A,c.(4324-4326)cttfs,0,6,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,TCF15,6939,20,585039,585040,3'UTR,INS,-,T,,0,1,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,EFCAB8,388795,20,31484388,31484389,Intron,INS,-,A,,3,18,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SDF2L1,23753,22,21998080,21998081,Intron,INS,-,G,,4,0,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,SPECC1L,23384,22,24739609,24739612,Intron,DEL,AGTA,-,,5,1,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,H1F0,3005,22,38202083,38202088,In_Frame_Del,DEL,CCAGTG,-,c.(532-537)ccagtgdel,2,120,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,RPGR,6103,X,38145198,38145198,Intron,DEL,T,-,,0,3,,
RP-1532_PCProject_0181_T2_v3_Exome_OnPrem,MAGED2,10916,X,54835905,54835906,Intron,INS,-,T,,1,7,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,TP73,7161,1,3649429,3649429,Missense_Mutation,SNP,C,T,c.(1696-1698)gCg>gTg,5,34,0,151
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ECE1,1889,1,21571599,21571599,Intron,SNP,G,A,,5,132,0,343
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,MYOM3,127294,1,24433563,24433563,Splice_Site,SNP,C,T,c.(400-402)cgG>cgA,3,13,0,70
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,NCDN,23154,1,36030981,36030981,Missense_Mutation,SNP,T,C,c.(1906-1908)cTc>cCc,3,25,0,152
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CYP4B1,1580,1,47276616,47276616,Missense_Mutation,SNP,G,A,c.(316-318)cGt>cAt,4,42,0,185
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,LRRC42,115353,1,54418082,54418082,Missense_Mutation,SNP,C,A,c.(409-411)gCt>gAt,3,29,0,47
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ALG14,199857,1,95448753,95448753,Missense_Mutation,SNP,C,T,c.(529-531)cGt>cAt,73,112,1,270
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,PRPF38B,55119,1,109241256,109241256,Missense_Mutation,SNP,G,T,c.(589-591)Gta>Tta,4,55,0,68
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,AMIGO1,57463,1,110051492,110051492,Missense_Mutation,SNP,G,A,c.(43-45)Ccg>Tcg,3,13,1,41
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,NBPF20,100288142,1,148262276,148262276,Missense_Mutation,SNP,T,C,c.(12139-12141)cAa>cGa,6,253,0,345
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CERS2,29956,1,150939014,150939014,Missense_Mutation,SNP,G,C,c.(940-942)Ctg>Gtg,4,71,0,163
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,FLG2,388698,1,152329310,152329310,Missense_Mutation,SNP,G,C,c.(952-954)Cag>Gag,5,85,0,230
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ILF2,3608,1,153640480,153640480,Missense_Mutation,SNP,T,C,c.(286-288)gAa>gGa,4,47,0,59
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,TDRD10,126668,1,154493890,154493890,Missense_Mutation,SNP,G,A,c.(304-306)Gtg>Atg,4,79,1,192
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,SHC1,6464,1,154936620,154936620,Intron,SNP,G,A,,4,60,0,142
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,BCAN,63827,1,156622561,156622561,Silent,SNP,C,T,c.(1819-1821)Ctg>Ttg,10,12,0,85
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,KIRREL,55243,1,158066376,158066376,IGR,SNP,C,T,,4,44,0,165
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,DNM3,26052,1,172001629,172001629,Missense_Mutation,SNP,C,T,c.(676-678)cCt>cTt,4,100,0,148
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CEP170,9859,1,243349497,243349497,Intron,SNP,A,G,,4,156,0,226
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,LTBP1,4052,2,33540328,33540328,Missense_Mutation,SNP,C,T,c.(3721-3723)aCg>aTg,5,116,0,202
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,RASGRP3,25780,2,33752361,33752361,Missense_Mutation,SNP,A,G,c.(964-966)gAg>gGg,7,97,0,246
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,DNAH6,1768,2,84784930,84784930,Silent,SNP,G,T,c.(1672-1674)tcG>tcT,5,100,1,148
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,KCMF1,56888,2,85280274,85280274,Silent,SNP,G,A,c.(886-888)ttG>ttA,4,31,0,81
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CNOT11,55571,2,101885723,101885723,Missense_Mutation,SNP,C,T,c.(1381-1383)Cgt>Tgt,4,69,0,82
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,NEB,4703,2,152394679,152394679,Missense_Mutation,SNP,C,T,c.(15868-15870)cGc>cAc,4,46,0,71
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,SLC39A10,57181,2,196545628,196545628,Missense_Mutation,SNP,C,A,c.(862-864)Cat>Aat,4,73,0,98
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,COL4A4,1286,2,227892632,227892632,Missense_Mutation,SNP,G,T,c.(4066-4068)cCc>cAc,5,98,0,185
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,SLC19A3,80704,2,228566885,228566885,Splice_Site,SNP,C,T,c.(148-150)gaG>gaA,5,59,0,89
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,HACL1,26061,3,15628026,15628026,Intron,SNP,C,T,,7,80,0,71
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,GPD1L,23171,3,32201136,32201136,Missense_Mutation,SNP,G,A,c.(928-930)cGc>cAc,5,108,0,153
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ZNF662,389114,3,42950345,42950345,Nonsense_Mutation,SNP,G,A,c.(94-96)tGg>tAg,5,90,0,168
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,GRM2,2912,3,51746613,51746613,Missense_Mutation,SNP,C,T,c.(574-576)gCc>gTc,4,77,0,280
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ABI3BP,25890,3,100553585,100553585,Intron,SNP,G,A,,4,128,0,236
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,MYH15,22989,3,108224611,108224611,Missense_Mutation,SNP,C,T,c.(214-216)Gaa>Aaa,6,89,0,95
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,KIAA2018,205717,3,113374249,113374249,Nonsense_Mutation,SNP,G,A,c.(6280-6282)Cga>Tga,5,114,0,237
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CEP63,80254,3,134280214,134280214,Intron,SNP,T,G,,5,167,0,180
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,NME9,347736,3,138043329,138043329,Intron,SNP,C,T,,4,110,0,211
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,XRN1,54464,3,142094648,142094648,Nonsense_Mutation,SNP,G,C,c.(2968-2970)taC>taG,4,59,0,66
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,MAP3K13,9175,3,185198114,185198114,Missense_Mutation,SNP,C,T,c.(2596-2598)Cac>Tac,6,147,1,263
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,DKK2,27123,4,107846967,107846967,Missense_Mutation,SNP,C,T,c.(361-363)cGc>cAc,4,45,0,90
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,FABP2,2169,4,120243226,120243226,Missense_Mutation,SNP,C,T,c.(31-33)cGg>cAg,6,47,0,84
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,TRPC3,7222,4,122846352,122846352,Missense_Mutation,SNP,G,A,c.(997-999)Cgg>Tgg,25,23,0,94
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,FAT4,79633,4,126238390,126238390,Missense_Mutation,SNP,C,T,c.(823-825)gCg>gTg,3,5,1,34
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,NPY1R,4886,4,164247042,164247042,Missense_Mutation,SNP,C,T,c.(664-666)gGt>gAt,5,74,0,136
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,AGA,175,4,178352252,178352252,3'UTR,SNP,C,G,,7,28,0,42
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,SORBS2,8470,4,186533064,186533064,Missense_Mutation,SNP,C,A,c.(2953-2955)aGa>aTa,5,85,0,163
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,SLC6A3,6531,5,1401077,1401077,Missense_Mutation,SNP,C,T,c.(1792-1794)Gag>Aag,30,73,0,431
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,MTRR,4552,5,7891521,7891521,Missense_Mutation,SNP,G,A,c.(1444-1446)tGt>tAt,4,99,0,86
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,JMY,133746,5,78610514,78610514,Silent,SNP,C,A,c.(2497-2499)ggC>ggA,4,98,0,167
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,POLR3G,10622,5,89797762,89797762,Missense_Mutation,SNP,G,A,c.(394-396)gGc>gAc,5,111,0,161
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,TMCO6,55374,5,140023765,140023765,Missense_Mutation,SNP,G,A,c.(1186-1188)Gtg>Atg,40,76,0,216
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,PCDHGC4,56098,5,140866811,140866811,Missense_Mutation,SNP,C,A,c.(2071-2073)Ctc>Atc,4,45,0,144
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,DPCR1,135656,6,30918047,30918047,Silent,SNP,A,T,c.(1804-1806)acA>acT,8,179,0,414
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,GPSM3,63940,6,32159186,32159186,Missense_Mutation,SNP,C,T,c.(439-441)cGa>cAa,7,14,0,72
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,TULP1,7287,6,35476979,35476979,Intron,SNP,C,A,,4,88,0,251
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,DNAH8,1769,6,38866107,38866107,Missense_Mutation,SNP,C,A,c.(8362-8364)aCa>aAa,4,81,0,69
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,COL19A1,1310,6,70916940,70916940,Missense_Mutation,SNP,C,T,c.(3391-3393)Cct>Tct,4,46,0,131
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,SLC16A10,117247,6,111498560,111498560,Missense_Mutation,SNP,G,T,c.(634-636)Gtc>Ttc,3,19,0,57
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,PTPRK,5796,6,128298112,128298112,Missense_Mutation,SNP,C,T,c.(3796-3798)Ggc>Agc,6,59,0,107
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,SERAC1,84947,6,158569967,158569967,Missense_Mutation,SNP,T,G,c.(283-285)agA>agC,38,43,0,73
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,TNRC18,84629,7,5348555,5348555,Missense_Mutation,SNP,C,A,c.(8650-8652)aGc>aTc,4,46,0,199
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,BMPER,168667,7,34118631,34118631,Missense_Mutation,SNP,C,G,c.(1240-1242)tCc>tGc,45,86,0,362
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ABCA13,154664,7,48431555,48431555,Missense_Mutation,SNP,A,T,c.(11692-11694)Acc>Tcc,4,82,0,208
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,PHKG1,5260,7,56147445,56147445,IGR,SNP,G,T,,29,55,0,298
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,EFCAB1,79645,8,49643126,49643126,Nonsense_Mutation,SNP,G,A,c.(292-294)Cga>Tga,17,23,0,49
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,XKR4,114786,8,56270267,56270267,Missense_Mutation,SNP,G,A,c.(835-837)cGa>cAa,4,77,0,179
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ASPH,444,8,62595010,62595010,Intron,SNP,C,A,,4,105,0,92
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CSPP1,79848,8,67999067,67999067,5'UTR,SNP,C,T,,4,134,0,130
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,TLN1,7094,9,35715070,35715070,Missense_Mutation,SNP,C,A,c.(2740-2742)Gtg>Ttg,6,268,0,408
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,TMEM2,23670,9,74312990,74312990,Missense_Mutation,SNP,C,A,c.(3508-3510)Gca>Tca,6,237,1,280
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,GAPVD1,26130,9,128065062,128065062,Missense_Mutation,SNP,C,A,c.(985-987)tCc>tAc,5,44,0,63
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ZMYND11,10771,10,287973,287973,Missense_Mutation,SNP,G,C,c.(844-846)Gag>Cag,10,60,0,128
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,NET1,10276,10,5498660,5498660,Silent,SNP,G,A,c.(1492-1494)gcG>gcA,5,84,1,132
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,C10orf113,387638,10,21414996,21414996,Missense_Mutation,SNP,A,G,c.(223-225)gTt>gCt,25,54,1,214
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,GBF1,8729,10,104129512,104129512,Silent,SNP,G,T,c.(3190-3192)cgG>cgT,4,114,1,258
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,NEURL,0,10,105348687,105348687,Intron,SNP,G,A,,4,41,0,99
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,COL17A1,1308,10,105819438,105819438,Missense_Mutation,SNP,C,T,c.(1180-1182)Gct>Act,5,134,0,244
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ADAM12,8038,10,127806692,127806692,Missense_Mutation,SNP,C,T,c.(526-528)cGg>cAg,38,97,0,285
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ZDHHC13,54503,11,19197457,19197457,Missense_Mutation,SNP,T,A,c.(1819-1821)Tac>Aac,7,116,0,283
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,DCDC1,341019,11,30900242,30900242,Missense_Mutation,SNP,C,A,c.(5239-5241)atG>atT,4,65,0,101
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,SSRP1,6749,11,57094900,57094900,Splice_Site,SNP,C,A,c.(1870-1872)aGg>aTg,4,77,0,130
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,SYT7,9066,11,61305701,61305701,Intron,SNP,G,T,,3,31,0,96
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,RSF1,51773,11,77409562,77409562,Silent,SNP,T,C,c.(2683-2685)aaA>aaG,4,82,0,133
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,TRPC6,7225,11,101362353,101362353,Missense_Mutation,SNP,C,A,c.(1060-1062)caG>caT,4,107,0,242
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CAPZA3,93661,12,18891734,18891734,Missense_Mutation,SNP,G,T,c.(532-534)Gtt>Ttt,21,33,0,70
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,MUC19,283463,12,40928554,40928554,3'UTR,SNP,G,T,,4,12,0,34
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CNTN1,1272,12,41323801,41323801,Missense_Mutation,SNP,G,A,c.(700-702)Gaa>Aaa,9,104,0,133
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,KMT2D,8085,12,49422723,49422723,Missense_Mutation,SNP,G,A,c.(14269-14271)cCt>cTt,3,29,0,73
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,FAM186A,121006,12,50745941,50745941,Silent,SNP,C,T,c.(4672-4674)ccG>ccA,4,46,0,150
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,KRT85,3891,12,52760761,52760761,Intron,SNP,C,A,,5,92,0,280
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ITGA7,3679,12,56092320,56092320,Missense_Mutation,SNP,G,A,c.(1171-1173)Cgc>Tgc,13,54,0,192
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CNOT2,4848,12,70747643,70747643,Missense_Mutation,SNP,G,T,c.(1570-1572)cGg>cTg,5,147,0,185
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CAPS2,84698,12,75683435,75683435,Missense_Mutation,SNP,G,T,c.(1417-1419)gCt>gAt,10,66,0,52
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ACAD10,80724,12,112159527,112159527,Missense_Mutation,SNP,C,A,c.(1045-1047)Ctc>Atc,5,25,0,41
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,DNAH10,196385,12,124366279,124366279,Silent,SNP,C,T,c.(8386-8388)cgC>cgT,8,27,0,108
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,RAN,5901,12,131360164,131360164,Missense_Mutation,SNP,A,G,c.(442-444)gAc>gGc,14,14,0,43
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CARS2,79587,13,111340087,111340087,Silent,SNP,G,A,c.(550-552)aaC>aaT,4,34,0,67
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,SUPT16H,11198,14,21829383,21829383,Intron,SNP,G,A,,5,115,0,149
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,TM9SF1,10548,14,24662272,24662272,Missense_Mutation,SNP,G,T,c.(547-549)gaC>gaA,4,81,1,172
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,SYNE2,23224,14,64443365,64443365,Missense_Mutation,SNP,C,A,c.(1213-1215)Ctt>Att,5,122,0,227
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ADCK1,57143,14,78294247,78294247,Intron,SNP,C,A,,5,25,0,71
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ATXN3,4287,14,92537184,92537184,Missense_Mutation,SNP,G,C,c.(1084-1086)ttC>ttG,4,84,0,115
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,HSP90AA1,3320,14,102550296,102550296,Missense_Mutation,SNP,G,A,c.(1171-1173)tCg>tTg,7,189,0,177
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,TECPR2,9895,14,102964484,102964484,Missense_Mutation,SNP,C,T,c.(4126-4128)Ctc>Ttc,4,53,0,178
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,TECPR2,9895,14,102964531,102964531,Missense_Mutation,SNP,G,T,c.(4171-4173)caG>caT,4,67,1,253
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CDC42BPB,9578,14,103433466,103433466,Missense_Mutation,SNP,C,A,c.(2386-2388)caG>caT,6,49,0,104
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CDC42BPB,9578,14,103447258,103447258,Missense_Mutation,SNP,T,C,c.(991-993)aAt>aGt,66,78,0,333
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,SNHG14,0,15,25310190,25310190,RNA,SNP,T,C,,4,66,0,153
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,GANC,2595,15,42573134,42573134,Intron,SNP,G,A,,4,79,0,160
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,MYO1E,4643,15,59429597,59429597,Missense_Mutation,SNP,G,T,c.(3307-3309)aaC>aaA,6,163,0,385
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,VPS13C,54832,15,62253951,62253951,Missense_Mutation,SNP,C,T,c.(3745-3747)Gtt>Att,5,119,0,169
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CALML4,91860,15,68497638,68497638,Missense_Mutation,SNP,G,T,c.(76-78)aCt>aAt,4,91,0,270
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,HAGHL,84264,16,778369,778369,Silent,SNP,C,T,c.(340-342)caC>caT,6,90,0,377
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,DNAH3,55567,16,21156554,21156554,Silent,SNP,C,T,c.(394-396)ccG>ccA,47,69,0,337
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,AQP8,343,16,25235817,25235817,Missense_Mutation,SNP,G,T,c.(520-522)atG>atT,4,95,0,324
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,PHKG2,5261,16,30770455,30770455,3'UTR,SNP,C,T,,4,119,0,363
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,PHKG2,5261,16,30770460,30770460,3'UTR,SNP,C,T,,4,116,0,361
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,IL34,146433,16,70688555,70688555,Missense_Mutation,SNP,G,T,c.(142-144)aGg>aTg,3,8,0,66
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,JPH3,57338,16,87723402,87723402,Missense_Mutation,SNP,G,A,c.(1435-1437)aGc>aAc,5,7,0,98
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,GLOD4,51031,17,685825,685825,5'Flank,SNP,G,A,,27,17,0,178
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ABR,29,17,1028677,1028677,Silent,SNP,G,A,c.(85-87)taC>taT,14,27,0,218
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,SMG8,55181,17,57288714,57288714,Silent,SNP,C,T,c.(1300-1302)aaC>aaT,5,52,0,95
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,PSMC5,5705,17,61908874,61908874,Silent,SNP,G,A,c.(976-978)ctG>ctA,3,37,0,130
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,QRICH2,84074,17,74289188,74289188,Silent,SNP,C,T,c.(1120-1122)ttG>ttA,5,63,0,169
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,DYM,54808,18,46860105,46860105,Missense_Mutation,SNP,C,T,c.(613-615)Ggt>Agt,4,117,0,147
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,EEF2,1938,19,3976567,3976567,Silent,SNP,G,A,c.(2560-2562)ttC>ttT,4,83,0,248
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CARM1,10498,19,11031788,11031788,Missense_Mutation,SNP,A,C,c.(1600-1602)Aac>Cac,11,35,0,179
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ZNF700,90592,19,12060688,12060688,Nonsense_Mutation,SNP,G,T,c.(1849-1851)Gag>Tag,50,111,0,298
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,UNC13A,23025,19,17743661,17743661,Missense_Mutation,SNP,C,A,c.(3358-3360)Gtg>Ttg,4,105,0,310
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ZNF729,100287226,19,22497917,22497917,Silent,SNP,T,C,c.(1696-1698)caT>caC,4,128,1,164
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,URI1,8725,19,30476130,30476130,Splice_Site,SNP,G,A,c.(151-153)tgG>tgA,4,62,0,52
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,UBA2,10054,19,34942923,34942923,Silent,SNP,C,T,c.(907-909)ccC>ccT,9,31,0,56
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,MAG,4099,19,35790557,35790557,Silent,SNP,G,T,c.(514-516)ctG>ctT,5,49,0,294
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ZNF565,147929,19,36674362,36674362,Missense_Mutation,SNP,C,T,c.(625-627)tGt>tAt,6,72,0,182
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CYP2B7P1,0,19,41442413,41442413,RNA,SNP,C,T,,12,101,2,313
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CKM,1158,19,45821199,45821199,Missense_Mutation,SNP,C,A,c.(232-234)Gat>Tat,4,41,0,178
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,PPM1N,147699,19,46005462,46005462,IGR,SNP,C,T,,4,93,0,117
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ERVV-2,100271846,19,53553089,53553089,Silent,SNP,G,A,c.(583-585)agG>agA,4,137,0,506
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,NLRP2,55655,19,55501559,55501559,Splice_Site,SNP,T,C,c.(2536-2538)Tcg>Ccg,46,82,0,528
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,SSC5D,284297,19,56009531,56009531,Missense_Mutation,SNP,G,A,c.(1672-1674)Gct>Act,22,46,0,282
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ZNF787,126208,19,56600259,56600259,Silent,SNP,G,A,c.(280-282)aaC>aaT,14,18,0,103
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ZNF584,201514,19,58928996,58928996,Missense_Mutation,SNP,C,T,c.(1111-1113)Cgg>Tgg,30,52,0,221
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CDH4,1002,20,60348208,60348208,Silent,SNP,G,A,c.(544-546)tcG>tcA,12,25,0,139
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,BRWD1,54014,21,40636537,40636537,Silent,SNP,C,T,c.(1732-1734)gaG>gaA,4,120,0,130
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,BRWD1,54014,21,40636864,40636864,Missense_Mutation,SNP,C,T,c.(1612-1614)Ggg>Agg,7,102,0,92
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,PCNT,5116,21,47864621,47864621,Missense_Mutation,SNP,C,A,c.(9853-9855)cCa>cAa,5,90,0,157
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,DGCR6,8214,22,18898470,18898470,Nonsense_Mutation,SNP,A,T,c.(442-444)Aag>Tag,5,63,0,272
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,INPP5J,27124,22,31523492,31523492,Silent,SNP,G,A,c.(1759-1761)ccG>ccA,6,30,0,119
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ACO2,50,22,41895746,41895746,Missense_Mutation,SNP,G,A,c.(52-54)cGg>cAg,23,29,0,151
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,UBA1,7317,X,47072382,47072382,Intron,SNP,C,A,,5,52,0,123
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,XIST,7503,X,73063264,73063264,lincRNA,SNP,C,A,,6,64,0,112
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ATRX,546,X,76937279,76937279,Missense_Mutation,SNP,C,A,c.(3469-3471)Gat>Tat,3,11,0,10
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ALG13,79868,X,111000827,111000827,Silent,SNP,C,T,c.(2983-2985)caC>caT,4,27,0,55
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,AFF2,2334,X,148037745,148037745,Missense_Mutation,SNP,C,G,c.(2170-2172)Cag>Gag,3,34,0,134
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,UBR4,23352,1,19427076,19427076,Intron,DEL,C,-,,5,43,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,DIO1,1733,1,54375713,54375714,3'UTR,INS,-,A,,3,22,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,IFT172,26160,2,27667302,27667304,In_Frame_Del,DEL,CTG,-,c.(5245-5247)cagdel,15,36,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,PDK1,5163,2,173429201,173429202,Intron,INS,-,C,,6,16,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ADAM23,8745,2,207438012,207438015,Intron,DEL,AAGA,-,,6,11,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ARF4,378,3,57569694,57569700,Frame_Shift_Del,DEL,GAAACAA,-,c.(181-189)atttgtttcfs,4,173,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,IL12A-AS1,101928376,3,159819963,159819963,RNA,DEL,T,-,,26,38,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,INPP4B,8821,4,143114248,143114249,Frame_Shift_Ins,INS,-,G,c.(1171-1173)gaafs,6,25,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,TGFBI,7045,5,135382541,135382542,Splice_Site,INS,-,T,c.(460-465)gaagtg>gaTagtg,3,16,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,IQCE,23288,7,2641012,2641013,Intron,DEL,CA,-,,6,46,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,IDO1,3620,8,39776675,39776675,Intron,DEL,T,-,,5,33,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,CA3,761,8,86351952,86351953,Frame_Shift_Ins,INS,-,C,c.(46-48)tggfs,6,27,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ACSL5,51703,10,114168355,114168356,Intron,DEL,TA,-,,6,4,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,LRRK2,120892,12,40671668,40671669,Intron,INS,-,T,,24,40,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,RFX4,5992,12,106977000,106977003,5'UTR,DEL,CTCC,-,,3,8,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,RP11-307N16.6,0,13,24697375,24697375,Intron,DEL,A,-,,4,27,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,MYCBP2,23077,13,77636868,77636869,Intron,INS,-,G,,3,24,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,Unknown,0,13,90014539,90014539,IGR,DEL,G,-,,3,12,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,YLPM1,56252,14,75277155,75277156,Intron,INS,-,A,,3,27,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,FBN1,2200,15,48892435,48892436,Intron,INS,-,A,,44,78,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,TP53,7157,17,7578484,7578485,Frame_Shift_Ins,INS,-,AC,c.(445-447)tccfs,24,17,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,ZNF512B,57473,20,62657132,62657133,Intron,INS,-,T,,4,6,,
RP-1532_PCProject_0182_T1_v2_Exome_OnPrem,SSX9,280660,X,48159004,48159006,RNA,DEL,GTC,-,,3,20,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PLCH2,9651,1,2434007,2434007,Intron,SNP,C,T,,4,34,0,135
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,C1orf174,339448,1,3807433,3807433,Silent,SNP,G,A,c.(316-318)agC>agT,5,117,0,256
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PER3,8863,1,7869983,7869983,Missense_Mutation,SNP,G,A,c.(1270-1272)Ggg>Agg,5,161,0,195
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PADI6,353238,1,17722111,17722111,RNA,SNP,G,A,,5,44,0,111
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SESN2,83667,1,28600651,28600651,Silent,SNP,C,T,c.(1000-1002)ccC>ccT,4,50,1,110
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ZCCHC11,23318,1,52943441,52943441,Silent,SNP,C,T,c.(1960-1962)cgG>cgA,6,25,0,55
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,USP24,23358,1,55587156,55587156,Missense_Mutation,SNP,C,T,c.(4300-4302)Gtt>Att,4,34,0,99
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,DOCK7,85440,1,63024808,63024808,Silent,SNP,G,A,c.(2281-2283)atC>atT,5,63,0,163
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,HS2ST1,9653,1,87599659,87599659,Nonsense_Mutation,SNP,C,T,c.(883-885)Cga>Tga,5,53,0,112
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SLC6A17,388662,1,110740093,110740093,Missense_Mutation,SNP,C,T,c.(1687-1689)Cgc>Tgc,3,22,0,61
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,IQGAP3,128239,1,156497843,156497843,Silent,SNP,G,A,c.(4681-4683)aaC>aaT,4,57,0,139
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,LRRC71,149499,1,156897430,156897430,Missense_Mutation,SNP,G,A,c.(805-807)Gca>Aca,3,16,0,54
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,BLZF1,8548,1,169338768,169338768,Missense_Mutation,SNP,C,T,c.(7-9)aCt>aTt,4,21,0,45
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ABL2,27,1,179198434,179198434,Silent,SNP,G,A,c.(97-99)cgC>cgT,4,95,0,138
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PTGS2,5743,1,186646000,186646000,Silent,SNP,G,A,c.(688-690)Ctg>Ttg,4,61,0,119
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,BROX,148362,1,222892320,222892320,Missense_Mutation,SNP,G,A,c.(154-156)tGt>tAt,4,73,1,168
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,OR11L1,391189,1,248004978,248004978,Missense_Mutation,SNP,G,A,c.(220-222)aCg>aTg,4,110,0,217
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CCDC104,0,2,55761030,55761030,Missense_Mutation,SNP,C,T,c.(418-420)aCc>aTc,3,21,0,101
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RETSAT,54884,2,85576580,85576580,Silent,SNP,C,T,c.(922-924)caG>caA,5,234,0,369
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CCDC115,84317,2,131096687,131096687,3'UTR,SNP,C,T,,4,69,0,117
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MGAT5,4249,2,135107428,135107428,Missense_Mutation,SNP,G,C,c.(1165-1167)Gca>Cca,4,50,0,150
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,KYNU,8942,2,143790844,143790844,Missense_Mutation,SNP,C,T,c.(994-996)tCa>tTa,4,75,0,236
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TTN,7273,2,179419652,179419652,Missense_Mutation,SNP,C,T,c.(83611-83613)Gaa>Aaa,5,135,1,408
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TTN,7273,2,179566921,179566921,Missense_Mutation,SNP,G,A,c.(29533-29535)aCg>aTg,16,56,0,129
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ZNF385B,151126,2,180634343,180634343,Missense_Mutation,SNP,G,A,c.(139-141)gCc>gTc,37,174,0,308
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TMEM194B,100131211,2,191383467,191383467,Silent,SNP,C,T,c.(511-513)ctG>ctA,4,43,0,107
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ANKRD44,91526,2,197863705,197863705,Missense_Mutation,SNP,G,A,c.(2515-2517)cCa>cTa,4,100,0,190
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ALS2,57679,2,202584848,202584848,Intron,SNP,T,C,,3,28,0,75
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ADAM23,8745,2,207431961,207431961,Missense_Mutation,SNP,G,A,c.(1408-1410)cGa>cAa,5,19,0,99
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,XRCC5,7520,2,216972231,216972231,5'UTR,SNP,G,A,,4,82,0,135
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,XRCC5,7520,2,216972232,216972232,5'UTR,SNP,G,A,,4,79,1,136
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ZFAND2B,130617,2,220072435,220072435,Silent,SNP,T,C,c.(214-216)ccT>ccC,5,154,0,252
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,HES6,55502,2,239148215,239148215,Intron,SNP,C,A,,4,42,0,38
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ACAA1,30,3,38168195,38168195,Intron,SNP,C,T,,6,65,0,123
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,LARS2,23395,3,45557590,45557590,Silent,SNP,C,T,c.(1864-1866)tcC>tcT,3,14,0,82
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,UQCRC1,7384,3,48641024,48641024,Missense_Mutation,SNP,G,A,c.(679-681)Cct>Tct,5,121,0,222
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,IP6K1,9807,3,49785264,49785264,Silent,SNP,G,C,c.(208-210)acC>acG,19,91,0,196
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FAM208A,23272,3,56680630,56680630,Missense_Mutation,SNP,C,T,c.(2134-2136)aGg>aAg,9,24,0,98
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FLNB,2317,3,58064226,58064226,Intron,SNP,G,T,,4,62,0,168
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,BOC,91653,3,112989792,112989792,Splice_Site,SNP,G,A,c.e6+1,4,121,1,200
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PLXNA1,5361,3,126722249,126722249,Missense_Mutation,SNP,C,A,c.(1453-1455)cCc>cAc,5,75,1,118
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PIK3CA,5290,3,178921553,178921553,Missense_Mutation,SNP,T,A,c.(1033-1035)aaT>aaA,4,13,0,42
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,HES1,3280,3,193854244,193854244,Silent,SNP,G,T,c.(73-75)ccG>ccT,6,98,0,113
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FAM53A,152877,4,1659180,1659180,Missense_Mutation,SNP,C,T,c.(91-93)Gaa>Aaa,5,109,0,189
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RGS12,6002,4,3344681,3344681,Silent,SNP,G,A,c.(1897-1899)cgG>cgA,4,60,0,123
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SEPSECS,51091,4,25125821,25125821,Missense_Mutation,SNP,G,A,c.(1237-1239)aCt>aTt,4,46,0,119
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RBPJ,3516,4,26426265,26426265,Missense_Mutation,SNP,A,G,c.(685-687)gAa>gGa,5,33,0,82
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,DTHD1,401124,4,36296562,36296562,Missense_Mutation,SNP,G,A,c.(1168-1170)tGt>tAt,7,44,0,100
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CABS1,85438,4,71200980,71200980,Missense_Mutation,SNP,T,G,c.(223-225)cTc>cGc,8,18,0,109
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CXCL11,6373,4,76956504,76956504,Intron,SNP,G,A,,4,53,0,125
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CNOT6L,246175,4,78694292,78694292,Missense_Mutation,SNP,G,A,c.(343-345)Cgg>Tgg,4,60,0,159
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PTPN13,5783,4,87556450,87556450,Missense_Mutation,SNP,G,A,c.(40-42)gGa>gAa,4,84,0,196
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TET2,54790,4,106156595,106156595,Missense_Mutation,SNP,C,T,c.(1495-1497)cCa>cTa,3,32,0,168
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ENPEP,2028,4,111431479,111431479,Silent,SNP,C,T,c.(1273-1275)Ctg>Ttg,4,44,0,149
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,NDST4,64579,4,115750963,115750963,Missense_Mutation,SNP,G,T,c.(2482-2484)Cca>Aca,5,38,0,166
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,NDST3,9348,4,119148075,119148075,Missense_Mutation,SNP,G,T,c.(1756-1758)tGg>tTg,5,44,0,146
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SYNPO2,171024,4,119948470,119948470,Nonsense_Mutation,SNP,C,T,c.(946-948)Cag>Tag,5,104,0,133
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PALLD,23022,4,169611846,169611846,Silent,SNP,G,A,c.(1426-1428)cgG>cgA,9,297,0,370
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MTMR12,54545,5,32242152,32242152,Intron,SNP,C,A,,3,7,0,27
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FYB,2533,5,39137749,39137749,Missense_Mutation,SNP,G,C,c.(1468-1470)Cag>Gag,5,107,0,153
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PRKAA1,5562,5,40771821,40771821,Splice_Site,SNP,C,T,c.(508-510)Ggt>Agt,4,22,0,89
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MAP1B,4131,5,71490088,71490088,Silent,SNP,C,T,c.(904-906)gaC>gaT,5,31,0,151
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ANKRD31,256006,5,74495461,74495461,Missense_Mutation,SNP,C,T,c.(442-444)Gaa>Aaa,5,29,0,121
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,GPR98,84059,5,90119330,90119330,Missense_Mutation,SNP,G,A,c.(16285-16287)Gaa>Aaa,5,91,0,290
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,DDX46,9879,5,134109449,134109449,Nonsense_Mutation,SNP,C,T,c.(511-513)Cga>Tga,5,33,0,80
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SH3TC2,79628,5,148383397,148383397,IGR,SNP,G,T,,4,94,0,107
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,BNIP1,662,5,172586954,172586954,Silent,SNP,C,T,c.(388-390)agC>agT,5,68,0,149
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CDHR2,54825,5,176004438,176004438,Silent,SNP,C,T,c.(1231-1233)ccC>ccT,4,93,0,150
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RREB1,6239,6,7247153,7247153,Silent,SNP,C,T,c.(4303-4305)ccC>ccT,17,60,0,127
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,KDM1B,221656,6,18200761,18200761,Missense_Mutation,SNP,T,G,c.(916-918)aTt>aGt,4,32,0,109
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FAM65B,9750,6,24839830,24839830,Intron,SNP,G,C,,3,25,0,100
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SCGN,10590,6,25665263,25665263,Intron,SNP,G,A,,8,43,0,70
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,WDR46,9277,6,33254861,33254861,Intron,SNP,T,C,,3,24,0,43
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,BAK1,578,6,33543176,33543176,Silent,SNP,G,A,c.(247-249)gaC>gaT,5,156,1,314
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FBXO9,26268,6,52957542,52957542,Silent,SNP,C,T,c.(811-813)atC>atT,5,26,0,58
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,BMP5,653,6,55623909,55623909,Nonsense_Mutation,SNP,C,T,c.(1108-1110)tGg>tAg,5,127,0,193
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TAAR3,9288,6,132929658,132929658,RNA,SNP,C,T,,4,39,0,212
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,HIVEP2,3097,6,143089540,143089540,Missense_Mutation,SNP,C,T,c.(5320-5322)cGa>cAa,3,16,0,50
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ADGB,79747,6,147042559,147042559,Silent,SNP,C,T,c.(2011-2013)tcC>tcT,5,21,0,78
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SASH1,23328,6,148835582,148835582,Silent,SNP,C,T,c.(850-852)ccC>ccT,4,78,0,100
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TAB2,23118,6,149699330,149699330,Missense_Mutation,SNP,A,C,c.(277-279)gaA>gaC,7,63,0,245
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SYNE1,23345,6,152456281,152456281,Silent,SNP,G,A,c.(25744-25746)aaC>aaT,5,102,0,248
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,HERPUD2,64224,7,35674850,35674850,Nonsense_Mutation,SNP,C,T,c.(835-837)tGg>tAg,4,124,0,312
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,INHBA,3624,7,41730022,41730022,Silent,SNP,G,T,c.(505-507)acC>acA,22,116,0,255
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,URGCP,55665,7,43918675,43918675,Silent,SNP,G,A,c.(385-387)gcC>gcT,4,105,0,237
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ZMIZ2,83637,7,44801193,44801193,Splice_Site,SNP,G,A,c.e10+1,10,48,0,85
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ZNF727,442319,7,63538824,63538824,Missense_Mutation,SNP,G,A,c.(1396-1398)aGc>aAc,4,41,0,118
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,GTPBP10,85865,7,89982265,89982265,Missense_Mutation,SNP,C,A,c.(169-171)Caa>Aaa,4,38,0,110
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,AGFG2,3268,7,100148012,100148012,Intron,SNP,C,T,,4,64,0,112
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,KMT2E,55904,7,104681399,104681399,5'UTR,SNP,C,T,,4,41,0,119
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FOXP2,93986,7,114330042,114330042,3'UTR,SNP,C,T,,4,135,0,369
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,OPN1SW,611,7,128414719,128414719,Splice_Site,SNP,T,A,c.e3-2,5,136,0,264
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,UBE2H,7328,7,129479086,129479086,Missense_Mutation,SNP,A,C,c.(388-390)Tac>Gac,4,55,0,192
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,DENND2A,27147,7,140268562,140268562,Splice_Site,SNP,C,T,c.e7+1,5,73,0,196
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RP11-91J19.4,0,8,424901,424901,lincRNA,SNP,C,T,,4,63,0,181
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CSMD1,64478,8,4494959,4494959,Silent,SNP,C,T,c.(205-207)agG>agA,4,58,0,161
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,LONRF1,91694,8,12586740,12586740,Missense_Mutation,SNP,C,T,c.(1789-1791)aGa>aAa,4,50,1,147
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,DDHD2,23259,8,38095680,38095680,Missense_Mutation,SNP,G,A,c.(574-576)aGa>aAa,4,71,0,152
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TM2D2,83877,8,38852962,38852962,Intron,SNP,G,A,,7,36,0,110
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,KIAA1429,25962,8,95541404,95541404,Silent,SNP,C,T,c.(772-774)gaG>gaA,4,76,0,283
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,VPS13B,157680,8,100160184,100160184,Silent,SNP,C,T,c.(1957-1959)tcC>tcT,6,98,0,233
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,UBR5,51366,8,103284937,103284937,Nonsense_Mutation,SNP,G,A,c.(6793-6795)Cga>Tga,7,71,0,209
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,LRP12,29967,8,105503306,105503306,Silent,SNP,C,T,c.(2173-2175)caG>caA,4,48,0,131
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CPSF1,29894,8,145625390,145625390,Silent,SNP,G,A,c.(1021-1023)ggC>ggT,4,117,1,216
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TAF1L,138474,9,32632740,32632740,Silent,SNP,A,C,c.(2836-2838)gtT>gtG,8,69,0,301
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TAF1L,138474,9,32633504,32633504,Missense_Mutation,SNP,C,A,c.(2074-2076)Ggc>Tgc,6,59,0,217
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SLC35D2,11046,9,99086422,99086422,Missense_Mutation,SNP,C,T,c.(781-783)tGc>tAc,4,39,0,77
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CCDC180,100499483,9,100087337,100087337,Nonsense_Mutation,SNP,C,T,c.(1957-1959)Cag>Tag,5,50,0,88
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,HEMGN,55363,9,100692576,100692576,Silent,SNP,T,C,c.(1099-1101)tcA>tcG,4,49,0,188
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,HEMGN,55363,9,100692577,100692577,Missense_Mutation,SNP,G,A,c.(1099-1101)tCa>tTa,4,49,0,186
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,IKBKAP,8518,9,111641721,111641721,Intron,SNP,C,T,,4,92,0,309
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ZNF483,158399,9,114304755,114304755,Missense_Mutation,SNP,C,A,c.(1540-1542)Cag>Aag,3,11,0,79
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ZNF483,158399,9,114304758,114304758,Missense_Mutation,SNP,A,G,c.(1543-1545)Aga>Gga,3,10,0,82
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ZNF483,158399,9,114304759,114304759,Missense_Mutation,SNP,G,T,c.(1543-1545)aGa>aTa,3,12,0,81
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,NR6A1,2649,9,127456020,127456020,Intron,SNP,G,A,,4,87,0,161
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,HSPA5,3309,9,128001504,128001504,Missense_Mutation,SNP,C,G,c.(712-714)Gac>Cac,3,34,0,139
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TSC1,7248,9,135776198,135776198,Missense_Mutation,SNP,C,A,c.(2527-2529)caG>caT,6,189,0,391
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SARDH,1757,9,136578153,136578153,Intron,SNP,G,A,,18,111,0,250
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,KIAA1217,56243,10,24832187,24832187,Missense_Mutation,SNP,G,A,c.(3988-3990)Gtg>Atg,5,36,0,165
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PHYHIPL,84457,10,60994099,60994099,Missense_Mutation,SNP,G,A,c.(142-144)Gaa>Aaa,6,39,0,138
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ANK3,288,10,61946577,61946577,Missense_Mutation,SNP,T,C,c.(1981-1983)Acc>Gcc,33,152,0,324
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,NRBF2,29982,10,64913335,64913335,Missense_Mutation,SNP,G,T,c.(220-222)aGa>aTa,4,35,0,116
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,HNRNPH3,3189,10,70098363,70098363,Missense_Mutation,SNP,G,A,c.(355-357)Gga>Aga,4,67,0,133
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PSAP,5660,10,73585636,73585636,Silent,SNP,G,A,c.(733-735)atC>atT,4,101,0,244
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ANKRD1,27063,10,92677522,92677522,Missense_Mutation,SNP,C,T,c.(517-519)atG>atA,4,71,0,211
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,KIF11,3832,10,94369140,94369140,Splice_Site,SNP,A,G,c.e6-1,3,20,0,24
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MMS19,64210,10,99228167,99228167,Intron,SNP,G,A,,5,19,0,41
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SMC3,9126,10,112360186,112360186,Intron,SNP,C,T,,4,21,0,80
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FAM160B1,57700,10,116608441,116608441,Missense_Mutation,SNP,C,T,c.(1747-1749)tCc>tTc,5,76,0,157
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,DMBT1,1755,10,124359598,124359598,Missense_Mutation,SNP,C,T,c.(3298-3300)aCa>aTa,4,60,0,150
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,AP2A2,161,11,932765,932765,Intron,SNP,G,T,,4,51,1,174
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PRMT3,10196,11,20530107,20530107,3'UTR,SNP,G,A,,4,23,0,147
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,LDLRAD3,143458,11,36123532,36123532,Intron,SNP,A,G,,4,11,0,10
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,XRRA1,143570,11,74641405,74641405,Missense_Mutation,SNP,C,T,c.(340-342)Gac>Aac,4,56,0,136
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SPCS2,9789,11,74674685,74674685,Intron,SNP,G,A,,6,57,0,93
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,INTS4,92105,11,77612479,77612479,Missense_Mutation,SNP,C,T,c.(2215-2217)cGa>cAa,4,80,0,259
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,KDM5A,5927,12,416104,416104,Intron,SNP,G,A,,4,65,0,200
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PTPN6,5777,12,7066907,7066907,Missense_Mutation,SNP,G,A,c.(1165-1167)Gaa>Aaa,5,217,1,377
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,OTOGL,283310,12,80733050,80733050,Intron,SNP,C,T,,4,64,1,149
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RAB35,11021,12,120546459,120546459,Intron,SNP,C,A,,4,40,0,113
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SLC7A1,6541,13,30091335,30091335,Silent,SNP,C,T,c.(1621-1623)gtG>gtA,5,87,0,116
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,N4BP2L2,10443,13,33017391,33017391,Missense_Mutation,SNP,G,C,c.(1237-1239)gCa>gGa,6,30,0,127
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,POSTN,10631,13,38172811,38172811,Missense_Mutation,SNP,G,A,c.(52-54)cCt>cTt,4,52,0,110
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,AKAP11,11215,13,42877532,42877532,Silent,SNP,C,T,c.(4648-4650)gaC>gaT,4,56,0,164
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,LRCH1,23143,13,47279515,47279515,Intron,SNP,G,A,,6,82,0,208
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SLC15A1,6564,13,99360991,99360991,Silent,SNP,G,A,c.(1096-1098)gtC>gtT,4,46,0,109
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RBM25,58517,14,73569969,73569969,Missense_Mutation,SNP,G,C,c.(937-939)Gag>Cag,5,131,0,225
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RBM25,58517,14,73576081,73576081,Missense_Mutation,SNP,A,G,c.(1573-1575)Aga>Gga,3,28,1,74
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CCDC176,80127,14,74521953,74521953,Intron,SNP,G,A,,3,14,0,14
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TTLL5,23093,14,76129541,76129541,Missense_Mutation,SNP,G,A,c.(49-51)Gag>Aag,6,83,0,223
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CATSPERB,79820,14,92191416,92191416,Intron,SNP,G,T,,3,7,0,21
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,C15orf54,400360,15,39544519,39544519,Silent,SNP,C,T,c.(181-183)ctC>ctT,4,14,0,74
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RAD51,5888,15,40994054,40994054,Intron,SNP,C,A,,5,43,0,54
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,NDUFAF1,51103,15,41686388,41686388,Intron,SNP,A,G,,3,15,0,67
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MGA,23269,15,42058364,42058364,Nonsense_Mutation,SNP,T,A,c.(8083-8085)tTa>tAa,8,34,0,110
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MYEF2,50804,15,48451093,48451093,Missense_Mutation,SNP,C,A,c.(742-744)aaG>aaT,7,66,0,192
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ONECUT1,3175,15,53081323,53081323,Silent,SNP,G,A,c.(757-759)caC>caT,4,21,0,66
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SH2D7,646892,15,78390910,78390910,Missense_Mutation,SNP,G,A,c.(616-618)cGg>cAg,4,62,0,159
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FANCI,55215,15,89816683,89816683,Nonsense_Mutation,SNP,C,T,c.(958-960)Caa>Taa,5,51,0,128
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,STX4,6810,16,31044789,31044789,5'Flank,SNP,G,T,,18,112,0,193
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RP11-80F22.10,0,16,34681733,34681733,RNA,SNP,C,A,,4,20,0,66
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,KIAA0513,9764,16,85105497,85105497,Intron,SNP,G,A,,4,59,0,130
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,NXN,64359,17,800153,800153,Intron,SNP,C,A,,5,18,0,48
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SLC16A11,162515,17,6945621,6945621,Missense_Mutation,SNP,G,A,c.(880-882)Cgg>Tgg,3,13,0,50
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ACADVL,37,17,7127176,7127176,Silent,SNP,G,A,c.(1312-1314)ggG>ggA,4,102,0,278
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CWC25,54883,17,36971295,36971295,Missense_Mutation,SNP,G,A,c.(247-249)Cgt>Tgt,4,60,0,196
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,KAT2A,2648,17,40273107,40273107,Silent,SNP,G,A,c.(214-216)agC>agT,6,88,0,137
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,NSF,4905,17,44803917,44803917,Silent,SNP,C,T,c.(1762-1764)atC>atT,5,74,0,165
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SPAG9,9043,17,49052291,49052291,Missense_Mutation,SNP,C,T,c.(3541-3543)Gta>Ata,4,59,0,159
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TBC1D16,125058,17,77914865,77914865,Silent,SNP,G,A,c.(2095-2097)atC>atT,24,71,0,150
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MPPE1,65258,18,11885765,11885765,Silent,SNP,G,A,c.(916-918)agC>agT,4,127,0,131
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,EPG5,57724,18,43447539,43447539,Missense_Mutation,SNP,C,T,c.(6400-6402)Gta>Ata,3,17,0,55
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,DCC,1630,18,50923790,50923790,Missense_Mutation,SNP,C,G,c.(2800-2802)aCt>aGt,5,80,0,248
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,AMH,268,19,2249531,2249531,Missense_Mutation,SNP,G,A,c.(199-201)aGc>aAc,6,45,0,130
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MUC16,94025,19,8962362,8962362,Missense_Mutation,SNP,C,T,c.(43336-43338)gGg>gAg,4,100,1,183
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ICAM5,7087,19,10406207,10406207,Missense_Mutation,SNP,G,A,c.(2416-2418)Gga>Aga,5,101,1,198
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ILF3,3609,19,10791917,10791917,Silent,SNP,C,T,c.(1090-1092)acC>acT,5,93,0,132
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ZNF700,90592,19,12060711,12060711,Silent,SNP,A,G,c.(1870-1872)caA>caG,4,90,1,279
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,NOTCH3,4854,19,15281220,15281220,Missense_Mutation,SNP,C,A,c.(5035-5037)gGc>gTc,27,88,0,230
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FAM129C,199786,19,17643133,17643133,Missense_Mutation,SNP,G,A,c.(340-342)cGg>cAg,4,70,0,162
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ZNF93,81931,19,20045210,20045210,Silent,SNP,A,G,c.(1444-1446)aaA>aaG,4,91,0,254
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ZNF708,7562,19,21476519,21476519,Missense_Mutation,SNP,T,C,c.(1249-1251)Aag>Gag,3,25,0,73
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ZNF790,388536,19,37310826,37310826,Silent,SNP,C,T,c.(418-420)caG>caA,4,28,0,138
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RASIP1,54922,19,49230042,49230042,Splice_Site,SNP,C,T,c.(2125-2127)aaG>aaA,11,14,0,48
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ZNF175,7728,19,52095946,52095946,IGR,SNP,G,A,,3,23,0,72
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,NOP56,10528,20,2637504,2637504,Missense_Mutation,SNP,G,A,c.(1243-1245)cGa>cAa,4,113,0,298
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MACROD2,140733,20,15948245,15948245,Missense_Mutation,SNP,C,T,c.(955-957)Cat>Tat,5,82,0,161
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RALGAPA2,57186,20,20493296,20493296,Missense_Mutation,SNP,C,T,c.(4717-4719)Gag>Aag,4,72,0,263
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TM9SF4,9777,20,30738659,30738659,Nonsense_Mutation,SNP,G,A,c.(1225-1227)tGg>tAg,5,131,0,250
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ITCH,83737,20,33033164,33033164,Silent,SNP,G,A,c.(1159-1161)caG>caA,4,106,0,204
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,GGT7,2686,20,33442397,33442397,Missense_Mutation,SNP,G,A,c.(1255-1257)gCc>gTc,5,74,0,156
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ATP9A,10079,20,50235544,50235544,Silent,SNP,G,T,c.(2152-2154)gcC>gcA,24,67,0,193
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,U2AF1,7307,21,44513293,44513293,Silent,SNP,G,A,c.(640-642)ggC>ggT,5,205,0,230
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SPECC1L,23384,22,24717522,24717522,Missense_Mutation,SNP,G,A,c.(574-576)Gca>Aca,6,103,0,323
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MN1,4330,22,28194924,28194924,Silent,SNP,C,T,c.(1606-1608)caG>caA,8,226,1,259
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,INPP5J,27124,22,31524005,31524005,Missense_Mutation,SNP,C,T,c.(1855-1857)gCc>gTc,4,76,0,147
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,EP300,2033,22,41527612,41527612,Silent,SNP,A,G,c.(1501-1503)caA>caG,5,115,0,246
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,EP300,2033,22,41560106,41560106,Missense_Mutation,SNP,C,G,c.(3778-3780)Ctt>Gtt,5,108,0,286
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TCF20,6942,22,42575649,42575649,Silent,SNP,G,A,c.(5713-5715)tcC>tcT,4,71,0,156
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PHKA1,5255,X,71875982,71875982,Silent,SNP,G,C,c.(1027-1029)ggC>ggG,5,41,0,176
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ARMCX4,100131755,X,100749493,100749493,Missense_Mutation,SNP,G,A,c.(5917-5919)Gag>Aag,4,32,0,79
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MTMR1,8776,X,149887166,149887166,Missense_Mutation,SNP,G,A,c.(322-324)Gcc>Acc,4,38,0,54
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,COL16A1,1307,1,32150641,32150641,Intron,DEL,T,-,,3,1,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,OSBPL9,114883,1,52135277,52135280,Intron,DEL,GCAA,-,,3,16,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,NRD1,4898,1,52258026,52258030,Intron,DEL,CAGCA,-,,3,38,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TMEM59,9528,1,54507370,54507371,Intron,INS,-,G,,7,22,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RTCA,8634,1,100746875,100746876,Intron,INS,-,A,,3,19,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MROH9,80133,1,170916634,170916635,Intron,INS,-,A,,5,14,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RALGPS2,55103,1,178790723,178790724,Intron,INS,-,G,,4,17,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,LAMC2,3918,1,183207403,183207403,Intron,DEL,T,-,,5,29,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CENPF,1063,1,214819640,214819641,In_Frame_Ins,INS,-,ACC,c.(6727-6729)aag>aACCag,3,22,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,KCTD3,51133,1,215792484,215792485,Intron,INS,-,A,,3,8,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RAB3GAP2,25782,1,220331083,220331087,Intron,DEL,TGGTT,-,,3,14,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RYR2,6262,1,237756786,237756787,Frame_Shift_Del,DEL,CA,-,c.(4285-4287)tcafs,6,2,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,EFCAB2,84288,1,245245478,245245479,Intron,INS,-,A,,3,13,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,NCOA1,8648,2,24920512,24920513,Intron,INS,-,A,,3,14,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,DTNB,1838,2,25611097,25611108,In_Frame_Del,DEL,CCCCCGACTCCG,-,c.(1696-1710)agcggagtcggggga>aga,10,173,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,LHCGR,3973,2,48950506,48950506,Intron,DEL,G,-,,3,18,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,POLR1A,25885,2,86308826,86308827,Frame_Shift_Ins,INS,-,G,c.(820-822)ttcfs,4,18,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,VWA3B,200403,2,98906922,98906923,Intron,INS,-,TC,,3,23,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,WDR33,55339,2,128522900,128522900,Intron,DEL,C,-,,5,13,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,NEB,4703,2,152490167,152490168,Intron,INS,-,T,,6,19,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TANC1,85461,2,160055462,160055463,Intron,INS,-,T,,7,32,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TTN,7273,2,179546291,179546292,Intron,INS,-,T,,4,7,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,HIBCH,26275,2,191175621,191175622,Intron,INS,-,AC,,4,19,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,STK17B,9262,2,197002428,197002429,Frame_Shift_Ins,INS,-,A,c.(859-864)tgccttfs,3,10,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,AOX1,316,2,201480671,201480671,Intron,DEL,T,-,,5,14,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ICOS,29851,2,204801667,204801668,Intron,INS,-,G,,3,12,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FASTKD2,22868,2,207653581,207653585,Frame_Shift_Del,DEL,CTACC,-,c.(1852-1857)ctaccafs,3,59,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MAP2,4133,2,210560103,210560103,Frame_Shift_Del,DEL,T,-,c.(3208-3210)ctafs,3,16,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ABCA12,26154,2,215875006,215875007,Intron,INS,-,T,,3,12,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,AC131097.3,0,2,242945799,242945800,RNA,INS,-,CT,,7,22,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,Unknown,0,3,11924514,11924515,IGR,INS,-,C,,3,10,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FAM208A,23272,3,56700318,56700319,Frame_Shift_Ins,INS,-,G,c.(991-993)atafs,4,16,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,GRAMD1C,54762,3,113622972,113622973,Intron,INS,-,C,,3,8,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,POLQ,10721,3,121248653,121248653,Intron,DEL,A,-,,3,4,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,GOLGB1,2804,3,121441075,121441076,Intron,INS,-,T,,8,31,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,XRN1,54464,3,142075977,142075977,Intron,DEL,A,-,,3,17,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TNIK,23043,3,170789015,170789016,In_Frame_Ins,INS,-,AAG,c.(3544-3546)ttt>ttCTTt,3,22,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,GC,2638,4,72607639,72607640,Intron,INS,-,G,,4,10,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,EXOSC9,5393,4,122724197,122724198,Intron,INS,-,GAC,,3,13,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,INPP4B,8821,4,143114248,143114249,Frame_Shift_Ins,INS,-,G,c.(1171-1173)gaafs,3,20,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PPID,5481,4,159631870,159631871,Intron,INS,-,A,,3,21,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CASP3,836,4,185552949,185552953,Frame_Shift_Del,DEL,TAGAC,-,c.(448-453)agtctafs,3,31,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,DROSHA,29102,5,31466424,31466425,Intron,INS,-,G,,3,19,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FCHO2,115548,5,72351873,72351873,Intron,DEL,A,-,,3,9,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,DMGDH,29958,5,78296071,78296072,Intron,INS,-,A,,4,15,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ACOT12,134526,5,80681681,80681682,Intron,INS,-,A,,4,25,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RIOK2,55781,5,96503204,96503204,Frame_Shift_Del,DEL,A,-,c.(1363-1365)ttgfs,7,19,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ADAMTS19,171019,5,129039928,129039929,Intron,INS,-,A,,3,22,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,KIF3A,11127,5,132051887,132051888,Intron,DEL,TA,-,,3,2,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SLC17A1,6568,6,25826860,25826861,Splice_Site,INS,-,T,c.(34-36)gtt>gtAt,3,3,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,GABBR1,2550,6,29603863,29603864,5'Flank,INS,-,T,,3,10,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,COQ3,51805,6,99819341,99819342,Frame_Shift_Ins,INS,-,C,c.(850-852)tttfs,3,22,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TXLNB,167838,6,139597858,139597859,Intron,INS,-,A,,3,11,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,GINM1,116254,6,149911857,149911858,Intron,INS,-,C,,3,19,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TCP1,6950,6,160205113,160205113,Intron,DEL,T,-,,3,13,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PHF14,9678,7,11022592,11022594,In_Frame_Del,DEL,AAT,-,c.(706-708)aatdel,5,33,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,DPY19L1,23333,7,35029471,35029471,Intron,DEL,C,-,,6,20,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,VPS41,27072,7,38829357,38829358,Intron,DEL,GA,-,,3,15,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,AKAP9,10142,7,91652434,91652435,Intron,INS,-,G,,4,8,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,AKAP9,10142,7,91730129,91730130,Intron,INS,-,C,,3,37,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,Unknown,0,7,98882967,98882968,IGR,INS,-,T,,5,22,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,3,8,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,Unknown,0,7,124422017,124422024,IGR,DEL,TGCGTGGT,-,,3,26,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TMEM209,84928,7,129842402,129842402,Frame_Shift_Del,DEL,G,-,c.(301-303)cagfs,3,25,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,WDR91,29062,7,134895492,134895493,Intron,INS,-,T,,3,18,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,AKR1D1,6718,7,137773580,137773581,Intron,INS,-,TTTG,,3,13,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TPK1,27010,7,144380111,144380111,Intron,DEL,C,-,,3,19,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,EZH2,2146,7,148524254,148524254,Splice_Site,DEL,A,-,c.e7+1,3,22,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,KMT2C,58508,7,151866263,151866263,Intron,DEL,A,-,,4,27,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,LONRF1,91694,8,12600612,12600613,Intron,INS,-,T,,3,10,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,NRG1,3084,8,32607160,32607160,Intron,DEL,T,-,,3,7,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CSPP1,79848,8,68066198,68066199,Intron,DEL,TA,-,,3,23,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,E2F5,1875,8,86125964,86125965,Intron,INS,-,T,,3,22,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CA3,761,8,86351952,86351953,Frame_Shift_Ins,INS,-,C,c.(46-48)tggfs,3,15,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,NFIB,4781,9,14120641,14120642,Intron,DEL,GG,-,,0,0,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TEK,7010,9,27208995,27208996,Intron,INS,-,A,,3,9,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TLE1,7088,9,84268885,84268887,Splice_Site,DEL,TTA,-,c.e5+1,3,13,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SLC44A1,23446,9,108147824,108147825,Intron,INS,-,TTG,,3,20,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ASTN2,23245,9,119738355,119738356,Intron,INS,-,C,,4,16,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CDK5RAP2,55755,9,123291128,123291128,Intron,DEL,C,-,,8,25,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RBM18,92400,9,125004358,125004359,Intron,DEL,AG,-,,4,11,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,STRBP,55342,9,125935969,125935970,Frame_Shift_Del,DEL,GG,-,c.(376-378)cctfs,3,20,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,BMS1,9790,10,43312871,43312871,Frame_Shift_Del,DEL,G,-,c.(2509-2511)gatfs,4,0,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ANK3,288,10,61828419,61828420,Frame_Shift_Ins,INS,-,T,c.(12217-12222)agtgagfs,3,21,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,IFIT1B,439996,10,91144485,91144486,Frame_Shift_Ins,INS,-,G,c.(1414-1419)cctatafs,3,11,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,C10orf129,0,10,96988390,96988391,Intron,INS,-,A,,3,12,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,WDR11,55717,10,122650117,122650118,Intron,INS,-,T,,3,7,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,DOCK1,1793,10,128830037,128830038,Intron,INS,-,A,,3,15,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PLEKHA7,144100,11,16822477,16822478,Intron,INS,-,GTGGATT,,3,27,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PIK3C2A,5286,11,17113667,17113669,Intron,DEL,AGG,-,,4,17,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,OR5L2,26338,11,55595579,55595580,Frame_Shift_Del,DEL,GG,-,c.(883-888)aaggatfs,5,24,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MS4A18,728588,11,60496784,60496784,5'Flank,DEL,A,-,,3,14,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,KIAA1731,85459,11,93431718,93431719,Frame_Shift_Ins,INS,-,TC,c.(3640-3642)tctfs,3,20,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MPZL3,196264,11,118111007,118111008,Frame_Shift_Del,DEL,AG,-,c.(157-159)actfs,6,44,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CLEC9A,283420,12,10205259,10205260,5'UTR,DEL,AC,-,,3,12,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TAS2R31,259290,12,11183573,11183574,Frame_Shift_Ins,INS,-,T,c.(361-363)ttafs,5,14,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,GUCY2C,2984,12,14766230,14766231,Intron,INS,-,C,,3,20,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ARNTL2,56938,12,27540013,27540014,Intron,DEL,TC,-,,3,2,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,IPO8,10526,12,30818652,30818652,Intron,DEL,A,-,,5,22,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MUC19,283463,12,40939252,40939253,Intron,INS,-,ACT,,4,9,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,STAT6,6778,12,57494543,57494544,Intron,INS,-,CTT,,2,4,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SLC41A2,84102,12,105280079,105280080,Frame_Shift_Del,DEL,GA,-,c.(1018-1020)tccfs,5,32,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SVOP,55530,12,109331144,109331145,Intron,INS,-,A,,4,23,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,DNAH10,196385,12,124315322,124315322,Intron,DEL,T,-,,3,0,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,IFT88,8100,13,21157169,21157170,Intron,INS,-,CGC,,4,18,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,POLR1D,51082,13,28222617,28222621,Intron,DEL,AAACT,-,,3,68,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FLT3,2322,13,28597604,28597604,Frame_Shift_Del,DEL,T,-,c.(2299-2301)gaafs,4,30,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,POSTN,10631,13,38154135,38154136,Intron,DEL,GG,-,,4,21,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,GPALPP1,55425,13,45578563,45578565,In_Frame_Del,DEL,CAA,-,c.(211-216)ccaact>cct,3,21,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RNY4P29,100873823,13,59103541,59103542,RNA,INS,-,TT,,5,31,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,GMPR2,51292,14,24702696,24702697,Frame_Shift_Ins,INS,-,G,c.(100-102)agafs,3,19,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,NRXN3,9369,14,79081271,79081272,Intron,DEL,AG,-,,7,43,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FOXN3,1112,14,89885618,89885619,Intron,INS,-,G,,4,16,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SLC12A6,9990,15,34549758,34549758,Intron,DEL,G,-,,4,24,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,EIF2AK4,440275,15,40300396,40300397,Splice_Site,INS,-,AA,c.(3577-3579)gaa>gaAAa,3,4,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CASC5,57082,15,40915260,40915261,Frame_Shift_Ins,INS,-,C,c.(2875-2880)gaaatafs,3,16,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,STARD9,57519,15,42973815,42973816,Intron,INS,-,T,,3,22,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,UBR1,197131,15,43322111,43322112,Intron,INS,-,C,,4,30,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,DMXL2,23312,15,51780166,51780166,Frame_Shift_Del,DEL,C,-,c.(5200-5202)ttgfs,5,16,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ZP2,7783,16,21222762,21222763,Intron,INS,-,C,,3,12,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FUS,2521,16,31199560,31199561,Intron,DEL,CC,-,,5,23,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,C16orf97,388276,16,52060262,52060262,IGR,DEL,C,-,,4,14,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CHD9,80205,16,53338277,53338278,Frame_Shift_Ins,INS,-,G,c.(6358-6363)aaaccafs,3,14,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,ZNF19,7567,16,71509609,71509610,Frame_Shift_Ins,INS,-,T,c.(838-843)aaagctfs,6,23,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PIEZO1,9780,16,88787968,88787968,Frame_Shift_Del,DEL,A,-,c.(5380-5382)ttcfs,6,28,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,MPRIP,23164,17,17057766,17057766,Intron,DEL,T,-,,8,45,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,KIAA0100,9703,17,26955307,26955308,Frame_Shift_Ins,INS,-,A,c.(4567-4572)ggacaafs,4,20,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,PSMD3,5709,17,38152882,38152883,Intron,INS,-,G,,3,12,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,SPAG9,9043,17,49118864,49118867,Frame_Shift_Del,DEL,TCAG,-,c.(736-741)ctgaagfs,4,28,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,INSR,3643,19,7162924,7162924,Intron,DEL,T,-,,3,7,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,CYP4F8,11283,19,15729137,15729137,RNA,DEL,G,-,,3,25,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TDRD12,91646,19,33229758,33229759,Intron,INS,-,C,,3,18,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,EFCAB8,388795,20,31484388,31484389,Intron,INS,-,A,,2,12,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,BCAS1,8537,20,52574076,52574076,Intron,DEL,C,-,,4,22,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,RTCB,51493,22,32784101,32784101,Intron,DEL,T,-,,4,22,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,EP300,2033,22,41553512,41553512,Intron,DEL,A,-,,3,10,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,TAB3,257397,X,30872633,30872634,Frame_Shift_Ins,INS,-,C,c.(1147-1149)agtfs,3,11,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,NRK,203447,X,105189887,105189889,In_Frame_Del,DEL,CTC,-,c.(4081-4086)gactct>gat,3,22,,
RP-1532_PCProject_0186_T1_v2_Exome_OnPrem,FRMD7,90167,X,131214023,131214024,Intron,INS,-,G,,3,21,,
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,PAX7,5081,1,19062193,19062193,Missense_Mutation,SNP,C,T,c.(1222-1224)cCg>cTg,4,229,0,118
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,MAGI3,260425,1,114128066,114128066,Missense_Mutation,SNP,C,G,c.(610-612)cCa>cGa,57,170,0,214
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ARHGEF11,9826,1,156918274,156918274,Missense_Mutation,SNP,G,A,c.(1822-1824)Cgc>Tgc,30,155,0,121
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,TNN,63923,1,175048597,175048597,Missense_Mutation,SNP,C,T,c.(538-540)Cgt>Tgt,59,325,0,220
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,HMCN1,83872,1,185894212,185894212,Missense_Mutation,SNP,C,A,c.(1318-1320)cCa>cAa,121,110,0,307
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,KIF21B,23046,1,200950187,200950187,Missense_Mutation,SNP,G,A,c.(3880-3882)Cgg>Tgg,5,263,0,80
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,GDF7,151449,2,20867080,20867080,Silent,SNP,C,T,c.(79-81)gcC>gcT,20,60,0,20
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,MSH6,2956,2,48027975,48027975,Silent,SNP,C,A,c.(2851-2853)ctC>ctA,11,46,0,59
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,NRXN1,9378,2,50693625,50693625,Intron,SNP,A,T,,19,91,0,104
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,TSGA10,80705,2,99725373,99725373,Missense_Mutation,SNP,G,A,c.(133-135)Cgc>Tgc,5,25,0,48
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,FMNL2,114793,2,153484833,153484833,Missense_Mutation,SNP,C,T,c.(310-312)cCt>cTt,4,135,0,110
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,G6PC2,57818,2,169761040,169761040,Silent,SNP,C,T,c.(352-354)ggC>ggT,46,301,0,304
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,TTN,7273,2,179433470,179433470,Missense_Mutation,SNP,C,T,c.(72466-72468)Gag>Aag,6,14,0,39
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,INO80D,54891,2,206927641,206927641,Missense_Mutation,SNP,C,T,c.(100-102)Gcc>Acc,29,85,1,91
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,EFHB,151651,3,19977802,19977802,5'Flank,SNP,A,T,,4,31,0,37
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,GOLGA4,2803,3,37323712,37323712,Silent,SNP,G,A,c.(424-426)cgG>cgA,4,89,0,108
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ITIH1,3697,3,52818391,52818391,Silent,SNP,C,T,c.(1303-1305)ttC>ttT,50,130,0,126
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,CGGBP1,8545,3,88135473,88135473,Intron,SNP,C,T,,21,98,0,120
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,WHSC1,7468,4,1956908,1956908,Missense_Mutation,SNP,C,T,c.(2359-2361)Cgc>Tgc,34,59,0,45
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,HTT,3064,4,3230633,3230633,Missense_Mutation,SNP,A,G,c.(8005-8007)cAc>cGc,36,156,0,75
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ANK2,287,4,114279112,114279112,Missense_Mutation,SNP,G,A,c.(9337-9339)cGa>cAa,60,138,0,261
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,PHF17,0,4,129776874,129776874,Silent,SNP,G,A,c.(784-786)ccG>ccA,44,94,0,66
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,PPID,5481,4,159644427,159644427,Missense_Mutation,SNP,G,T,c.(13-15)tCc>tAc,92,314,0,222
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,AGA,175,4,178354365,178354365,Intron,SNP,T,G,,38,81,0,213
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ZFP42,132625,4,188924152,188924152,Missense_Mutation,SNP,G,A,c.(190-192)gGa>gAa,53,95,0,114
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,SEMA6A,57556,5,115803446,115803446,Intron,SNP,G,T,,4,99,0,62
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,WNT8A,7478,5,137424718,137424718,Missense_Mutation,SNP,G,C,c.(469-471)aGa>aCa,8,128,0,89
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,PCDHA4,56144,5,140188279,140188279,Missense_Mutation,SNP,G,A,c.(1507-1509)Gcg>Acg,6,581,0,358
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,EYS,346007,6,65531606,65531606,Missense_Mutation,SNP,G,T,c.(3175-3177)Ctt>Att,8,27,0,40
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,WASF1,8936,6,110423076,110423076,Missense_Mutation,SNP,G,T,c.(1237-1239)Cat>Aat,23,82,0,75
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,WIPF3,644150,7,29915498,29915498,Missense_Mutation,SNP,C,T,c.(142-144)gCg>gTg,19,125,0,102
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ZNF716,441234,7,57529309,57529309,Missense_Mutation,SNP,C,A,c.(1141-1143)aCt>aAt,6,110,1,262
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,TRIM24,8805,7,138239695,138239695,Missense_Mutation,SNP,C,T,c.(1513-1515)cCt>cTt,42,70,0,100
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,SNTG1,54212,8,51617199,51617199,Missense_Mutation,SNP,G,A,c.(1078-1080)Gtg>Atg,5,233,0,204
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,EYA1,2138,8,72111652,72111652,Missense_Mutation,SNP,C,A,c.(1702-1704)Gcg>Tcg,17,476,0,321
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,CSMD3,114788,8,113331069,113331069,Missense_Mutation,SNP,G,T,c.(7357-7359)Caa>Aaa,4,94,0,190
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,FAM83H,286077,8,144809339,144809339,Silent,SNP,G,A,c.(2290-2292)gtC>gtT,5,451,1,179
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,KIAA1432,0,9,5769135,5769135,Silent,SNP,C,T,c.(3301-3303)gcC>gcT,43,173,0,115
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,CNTFR,1271,9,34552727,34552727,Silent,SNP,G,A,c.(892-894)caC>caT,7,404,0,120
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ABL1,25,9,133760182,133760182,Missense_Mutation,SNP,A,C,c.(2503-2505)gaA>gaC,14,31,0,26
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,SOHLH1,402381,9,138590915,138590915,Silent,SNP,C,T,c.(121-123)ccG>ccA,88,181,0,114
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,EXOC6,54536,10,94733862,94733862,Missense_Mutation,SNP,T,C,c.(1825-1827)aTt>aCt,27,58,0,121
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,RRP12,23223,10,99145667,99145667,Silent,SNP,G,A,c.(1099-1101)aaC>aaT,68,246,0,115
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,SUFU,51684,10,104269037,104269037,Silent,SNP,C,G,c.(292-294)ctC>ctG,128,382,0,285
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,USP47,55031,11,11957929,11957929,Missense_Mutation,SNP,G,A,c.(2008-2010)cGg>cAg,4,89,0,84
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,SPON1,10418,11,14279386,14279386,RNA,SNP,C,A,,39,163,0,94
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,WT1,7490,11,32450155,32450155,Silent,SNP,C,T,c.(19-21)acG>acA,71,374,0,276
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,TPCN2,219931,11,68846242,68846242,Missense_Mutation,SNP,G,A,c.(1390-1392)cGt>cAt,7,797,0,153
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,GRM5,2915,11,88337977,88337977,Missense_Mutation,SNP,G,A,c.(1303-1305)Cgg>Tgg,7,258,0,285
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,USP28,57646,11,113706023,113706023,Intron,SNP,G,C,,45,89,1,132
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,PPFIBP1,8496,12,27841969,27841969,Missense_Mutation,SNP,G,A,c.(2536-2538)Gta>Ata,53,107,0,190
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ADAMTS20,80070,12,43945648,43945648,Missense_Mutation,SNP,A,C,c.(76-78)tTc>tGc,10,193,0,112
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,DDX23,9416,12,49231121,49231121,Missense_Mutation,SNP,C,T,c.(808-810)cGg>cAg,13,114,0,51
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,GRASP,160622,12,52400847,52400847,Missense_Mutation,SNP,C,T,c.(43-45)gCg>gTg,8,148,1,60
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,KRT73,319101,12,53008393,53008393,Missense_Mutation,SNP,T,G,c.(787-789)gaA>gaC,33,184,0,84
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,SLC5A8,160728,12,101595939,101595939,Intron,SNP,T,C,,6,91,0,83
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,POLR3B,55703,12,106763073,106763073,Missense_Mutation,SNP,G,C,c.(247-249)gGg>gCg,93,81,0,196
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ACACB,32,12,109703062,109703062,Missense_Mutation,SNP,G,A,c.(7090-7092)Gtg>Atg,4,121,0,77
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,HPD,3242,12,122286987,122286987,Intron,SNP,G,A,,52,180,0,133
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,GPR133,283383,12,131453564,131453564,Intron,SNP,C,A,,14,169,0,104
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,IRS2,8660,13,110435915,110435915,Missense_Mutation,SNP,G,T,c.(2485-2487)cCc>cAc,21,150,0,64
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ELMSAN1,91748,14,74203778,74203778,Missense_Mutation,SNP,G,A,c.(1672-1674)Cct>Tct,7,305,0,141
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,VRTN,55237,14,74824096,74824096,Missense_Mutation,SNP,C,T,c.(610-612)Cgt>Tgt,4,195,0,104
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,GSC,145258,14,95236259,95236259,Missense_Mutation,SNP,G,A,c.(94-96)Ccc>Tcc,117,314,0,154
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,IGHV7-81,28378,14,107282900,107282900,RNA,SNP,C,T,,6,326,0,276
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,GABRA5,2558,15,27128316,27128316,Missense_Mutation,SNP,G,A,c.(211-213)cGc>cAc,68,337,0,220
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,OCA2,4948,15,28260085,28260085,Intron,SNP,G,A,,7,506,1,226
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,EIF2AK4,440275,15,40265190,40265190,Missense_Mutation,SNP,G,T,c.(1633-1635)atG>atT,33,125,0,138
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,SKOR1,390598,15,68119265,68119265,Missense_Mutation,SNP,G,A,c.(1099-1101)Gcc>Acc,33,120,0,118
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,HCN4,10021,15,73617639,73617639,Splice_Site,SNP,C,T,c.(1735-1737)gaG>gaA,4,241,0,163
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,NMRAL1,57407,16,4516301,4516301,Missense_Mutation,SNP,C,T,c.(382-384)Gcg>Acg,6,411,1,188
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,PLEKHG4,25894,16,67314658,67314658,Missense_Mutation,SNP,G,A,c.(544-546)Gcc>Acc,7,794,0,307
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ZFHX3,463,16,72845575,72845575,Silent,SNP,G,A,c.(3763-3765)ccC>ccT,43,196,0,116
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,SPIRE2,84501,16,89916853,89916853,Missense_Mutation,SNP,G,T,c.(430-432)Gcc>Tcc,5,85,0,50
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ASPA,443,17,3384950,3384950,Missense_Mutation,SNP,A,G,c.(289-291)aAt>aGt,21,41,1,92
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ATP2A3,489,17,3844789,3844789,Missense_Mutation,SNP,C,T,c.(1705-1707)Gcg>Acg,8,701,0,238
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,PSMD3,5709,17,38142909,38142909,Missense_Mutation,SNP,G,A,c.(493-495)Gcc>Acc,64,153,0,171
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,LPO,4025,17,56344755,56344755,Missense_Mutation,SNP,C,T,c.(1738-1740)aCa>aTa,62,106,0,87
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,CTB-180A7.8,0,19,6396524,6396524,lincRNA,SNP,G,A,,5,172,0,81
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,GCDH,2639,19,13008189,13008189,Missense_Mutation,SNP,T,G,c.(1027-1029)atT>atG,6,391,0,142
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,SYDE1,85360,19,15221436,15221436,Missense_Mutation,SNP,C,T,c.(1180-1182)Cgc>Tgc,4,252,0,132
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,WIZ,58525,19,15547683,15547683,Missense_Mutation,SNP,G,A,c.(2530-2532)Cgc>Tgc,7,159,0,85
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,SLC27A1,376497,19,17597592,17597592,Missense_Mutation,SNP,G,A,c.(388-390)Gtg>Atg,4,171,0,74
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ZNF730,100129543,19,23318749,23318749,Splice_Site,SNP,G,T,c.e3-1,61,73,0,114
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,IFNL3,282617,19,39735130,39735130,Missense_Mutation,SNP,T,A,c.(184-186)gAg>gTg,8,159,1,86
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,JAG1,182,20,10628622,10628622,Missense_Mutation,SNP,G,A,c.(1705-1707)aCg>aTg,6,475,0,273
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,DNMT3B,1789,20,31374365,31374365,Missense_Mutation,SNP,C,T,c.(364-366)Cgt>Tgt,5,458,0,207
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ZNF335,63925,20,44596238,44596238,Missense_Mutation,SNP,G,A,c.(850-852)Cgt>Tgt,48,159,0,97
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,PMEPA1,56937,20,56227604,56227604,Silent,SNP,G,A,c.(367-369)ccC>ccT,10,18,0,11
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ZMAT5,55954,22,30144473,30144473,Missense_Mutation,SNP,G,A,c.(61-63)Cgc>Tgc,5,518,0,249
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ALG12,79087,22,50304252,50304252,Missense_Mutation,SNP,C,T,c.(298-300)aGa>aAa,110,528,0,235
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ADM2,79924,22,50921177,50921177,Missense_Mutation,SNP,C,T,c.(292-294)Ccc>Tcc,25,41,0,50
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,AR,367,X,66931247,66931247,Missense_Mutation,SNP,G,A,c.(1888-1890)cGg>cAg,32,20,0,68
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,BOK,666,2,242509533,242509540,Splice_Site,DEL,CCTGCAGG,-,c.(349-351)cct>t,30,59,,
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,FBN2,2201,5,127685221,127685222,Intron,INS,-,G,,28,51,,
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,ICK,22858,6,52878763,52878764,Frame_Shift_Ins,INS,-,T,c.(847-849)tacfs,59,114,,
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,Unknown,0,6,111185138,111185138,IGR,DEL,A,-,,26,39,,
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,UTF1,8433,10,135044050,135044061,In_Frame_Del,DEL,GGACCGCCGCCA,-,c.(256-270)ctggaccgccgccag>ctg,12,172,,
RP-1532_PCProject_0187_T1_v3_Exome_OnPrem,CMC2,56942,16,81025612,81025613,Intron,DEL,GT,-,,7,14,,
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,CPSF3L,54973,1,1247491,1247491,Missense_Mutation,SNP,G,C,c.(1642-1644)gaC>gaG,3,22,0,43
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,RER1,11079,1,2334542,2334542,Silent,SNP,C,T,c.(568-570)gcC>gcT,10,152,0,209
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,KCNA3,3738,1,111216087,111216087,Missense_Mutation,SNP,C,T,c.(1345-1347)Gat>Aat,27,68,1,211
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,AMPD1,270,1,115223058,115223058,Missense_Mutation,SNP,T,C,c.(688-690)Aca>Gca,90,85,0,296
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,MRPS21,54460,1,150277147,150277147,Intron,SNP,C,G,,3,15,0,14
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,KPRP,448834,1,152733527,152733527,Missense_Mutation,SNP,C,T,c.(1462-1464)cCg>cTg,4,107,0,188
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,TNN,63923,1,175048594,175048594,Missense_Mutation,SNP,G,A,c.(535-537)Ggg>Agg,16,75,0,169
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,HNRNPU,3192,1,245026044,245026044,Intron,SNP,A,T,,23,112,0,93
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,PGBD2,267002,1,249211426,249211426,Missense_Mutation,SNP,G,A,c.(643-645)Gca>Aca,27,64,0,207
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,PGBD2,267002,1,249211427,249211427,Missense_Mutation,SNP,C,T,c.(643-645)gCa>gTa,29,62,0,206
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,MSH2,4436,2,47641486,47641486,Silent,SNP,C,T,c.(871-873)Ctg>Ttg,5,84,0,211
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,EPHA4,2043,2,222291250,222291250,Missense_Mutation,SNP,C,T,c.(2779-2781)cGg>cAg,4,91,0,166
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,CTNNB1,1499,3,41275236,41275236,Missense_Mutation,SNP,C,G,c.(1402-1404)Ctt>Gtt,8,74,0,88
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,DOCK3,1795,3,51101980,51101980,Silent,SNP,G,A,c.(415-417)gtG>gtA,14,141,0,159
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,STX19,415117,3,93733957,93733957,Missense_Mutation,SNP,C,G,c.(157-159)Gaa>Caa,36,48,0,139
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,GRAMD1C,54762,3,113664273,113664273,Missense_Mutation,SNP,A,C,c.(1936-1938)aAa>aCa,25,68,0,132
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,SLCO2A1,6578,3,133669994,133669994,Intron,SNP,C,T,,4,82,0,185
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,RASA2,5922,3,141290264,141290264,Missense_Mutation,SNP,C,T,c.(1036-1038)gCt>gTt,14,41,0,93
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,ARL14,80117,3,160395142,160395142,Missense_Mutation,SNP,C,T,c.(7-9)tCg>tTg,5,8,0,21
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,PDE6B,5158,4,647744,647744,Missense_Mutation,SNP,G,A,c.(814-816)cGg>cAg,54,116,0,281
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,FRAS1,80144,4,79362385,79362385,Nonsense_Mutation,SNP,C,T,c.(5599-5601)Cag>Tag,6,163,0,211
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,RP11-766F14.2,0,4,100573410,100573410,Missense_Mutation,SNP,C,T,c.(2395-2397)cGc>cAc,37,35,0,111
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,ANK2,287,4,114117565,114117565,Silent,SNP,C,T,c.(226-228)caC>caT,37,219,0,225
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,LRBA,987,4,151682967,151682967,Silent,SNP,G,A,c.(5611-5613)ggC>ggT,5,131,0,120
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,FAM198B,51313,4,159051927,159051927,Intron,SNP,A,G,,8,51,0,67
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,CHD1,1105,5,98217074,98217074,Missense_Mutation,SNP,G,A,c.(2872-2874)aCt>aTt,4,69,0,75
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,PPIP5K2,23262,5,102526659,102526659,Missense_Mutation,SNP,G,A,c.(3469-3471)Gtt>Att,4,73,0,95
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,YTHDC2,64848,5,112903470,112903470,Silent,SNP,G,A,c.(3166-3168)acG>acA,20,82,1,137
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,GRM6,2916,5,178418623,178418623,Intron,SNP,C,T,,22,76,0,243
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,ADAMTS2,9509,5,178559847,178559847,Missense_Mutation,SNP,C,T,c.(2140-2142)Gtg>Atg,6,169,0,392
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,KCNK17,89822,6,39278712,39278712,Silent,SNP,G,A,c.(307-309)ctC>ctT,10,27,0,62
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,C7orf10,0,7,40257102,40257102,Intron,SNP,C,T,,4,29,0,35
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,ZCWPW1,55063,7,100006173,100006173,Silent,SNP,G,A,c.(976-978)taC>taT,15,67,0,92
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,ATP6V0A4,50617,7,138394506,138394506,Missense_Mutation,SNP,G,C,c.(2290-2292)aaC>aaG,39,157,1,343
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,DLGAP2,9228,8,1645419,1645419,Missense_Mutation,SNP,G,A,c.(2662-2664)cGg>cAg,10,42,0,76
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,MSRA,4482,8,10159067,10159067,Missense_Mutation,SNP,G,A,c.(355-357)Gtc>Atc,16,97,0,137
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,USP17L2,377630,8,11994795,11994795,Missense_Mutation,SNP,G,A,c.(1474-1476)aCg>aTg,30,319,1,629
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,DLC1,10395,8,13356662,13356662,Missense_Mutation,SNP,G,A,c.(919-921)Cca>Tca,8,198,0,212
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,LOXL2,4017,8,23198633,23198633,Silent,SNP,G,A,c.(613-615)taC>taT,39,233,1,406
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,Unknown,0,8,48114260,48114260,IGR,SNP,G,A,,11,29,0,54
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,NSMAF,8439,8,59506823,59506823,Missense_Mutation,SNP,C,T,c.(1918-1920)cGc>cAc,60,99,0,153
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,SMARCA2,6595,9,2039797,2039797,Silent,SNP,G,A,c.(685-687)caG>caA,30,146,0,280
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,PHF2,5253,9,96398688,96398688,Intron,SNP,C,A,,4,62,0,71
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,C10orf112,0,10,19884311,19884311,Missense_Mutation,SNP,G,A,c.(3967-3969)Gac>Aac,5,113,0,221
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,ANKRD30A,91074,10,37490169,37490169,Missense_Mutation,SNP,C,T,c.(2617-2619)Cgt>Tgt,18,70,0,85
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,ACTA2,59,10,90699300,90699300,Missense_Mutation,SNP,G,A,c.(772-774)Cgc>Tgc,30,124,0,275
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,FFAR4,338557,10,95326521,95326521,Missense_Mutation,SNP,G,A,c.(43-45)cGc>cAc,3,24,0,99
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,KCNQ1,3784,11,2591887,2591887,Silent,SNP,G,A,c.(505-507)acG>acA,7,186,0,338
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,OTOG,340990,11,17662555,17662555,Missense_Mutation,SNP,C,T,c.(8143-8145)Cgc>Tgc,6,77,0,152
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,LDHA,3939,11,18421014,18421014,Nonsense_Mutation,SNP,G,T,c.(163-165)Gaa>Taa,5,177,0,264
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,FANCF,2188,11,22647349,22647349,Missense_Mutation,SNP,G,T,c.(7-9)tCc>tAc,108,203,0,300
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,SLC22A25,387601,11,62996859,62996859,Missense_Mutation,SNP,C,T,c.(265-267)cGt>cAt,6,44,0,66
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,C2CD3,26005,11,73824907,73824907,Silent,SNP,C,G,c.(1759-1761)gtG>gtC,5,87,0,72
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,RP11-672A2.3,0,11,76391278,76391278,lincRNA,SNP,G,A,,31,191,0,214
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,FAT3,120114,11,92086749,92086749,Missense_Mutation,SNP,G,A,c.(1471-1473)Gtt>Att,5,67,0,109
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,KIAA1731,85459,11,93461931,93461931,Missense_Mutation,SNP,T,G,c.(7246-7248)Ttt>Gtt,19,119,0,104
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,CASP5,838,11,104869610,104869610,Splice_Site,SNP,A,T,c.e7+1,5,56,0,54
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,GLB1L3,112937,11,134182345,134182345,Missense_Mutation,SNP,G,A,c.(1390-1392)Gga>Aga,17,57,0,121
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,RAB5B,5869,12,56383867,56383867,Silent,SNP,C,T,c.(298-300)taC>taT,13,46,0,102
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,TMBIM4,51643,12,66563072,66563072,Intron,SNP,A,C,,13,36,0,82
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,N6AMT2,221143,13,21311953,21311953,Intron,SNP,G,A,,11,50,0,108
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,ZIC2,7546,13,100637797,100637797,Missense_Mutation,SNP,G,C,c.(1459-1461)gGc>gCc,5,0,0,14
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,COL4A1,1282,13,110835560,110835560,Missense_Mutation,SNP,G,A,c.(1960-1962)cCg>cTg,32,117,0,334
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,EXOC5,10640,14,57706317,57706317,Missense_Mutation,SNP,C,T,c.(526-528)Gat>Aat,5,115,0,157
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,WDR72,256764,15,54025285,54025285,Missense_Mutation,SNP,G,T,c.(61-63)aCt>aAt,50,105,0,312
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,SKOR1,390598,15,68119397,68119397,Missense_Mutation,SNP,G,A,c.(1231-1233)Gac>Aac,4,9,0,36
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,CORO2B,10391,15,69007577,69007577,Silent,SNP,C,T,c.(892-894)taC>taT,26,105,0,327
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,ABCC6,368,16,16272728,16272728,Missense_Mutation,SNP,G,A,c.(2341-2343)gCg>gTg,26,96,1,234
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,DNAH3,55567,16,20944628,20944628,Missense_Mutation,SNP,A,G,c.(12199-12201)Tgt>Cgt,28,100,0,225
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,KCNG4,93107,16,84256172,84256172,Missense_Mutation,SNP,C,T,c.(1210-1212)aGc>aAc,18,38,0,129
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,TP53,7157,17,7578208,7578208,Missense_Mutation,SNP,T,C,c.(640-642)cAt>cGt,97,65,0,366
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,MYH13,8735,17,10212619,10212619,Missense_Mutation,SNP,G,A,c.(5101-5103)Cgg>Tgg,5,84,0,161
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,ACLY,47,17,40028357,40028357,Silent,SNP,G,A,c.(2719-2721)gcC>gcT,28,97,0,143
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,BRCA1,672,17,41196844,41196844,3'UTR,SNP,C,A,,4,31,0,59
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,POTEC,388468,18,14542919,14542919,Missense_Mutation,SNP,C,A,c.(226-228)gGc>gTc,59,314,0,728
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,NCAN,1463,19,19330006,19330006,Missense_Mutation,SNP,G,A,c.(355-357)cGc>cAc,15,69,0,109
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,WDR87,83889,19,38380789,38380789,Silent,SNP,G,A,c.(3403-3405)tcC>tcT,15,75,0,144
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,RYR1,6261,19,38998471,38998471,Intron,SNP,C,T,,4,61,0,268
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,MARK4,57787,19,45766570,45766570,Intron,SNP,C,T,,4,52,0,108
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,SULT2B1,6820,19,49055535,49055535,Missense_Mutation,SNP,T,C,c.(25-27)aTc>aCc,15,101,0,168
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,ZNF71,58491,19,57133426,57133426,Silent,SNP,C,G,c.(769-771)ctC>ctG,3,26,1,84
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,ZNF71,58491,19,57133431,57133431,Missense_Mutation,SNP,T,A,c.(775-777)gTg>gAg,3,28,1,80
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,SLC2A10,81031,20,45354184,45354184,Missense_Mutation,SNP,G,T,c.(508-510)tGg>tTg,94,171,0,386
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,GAB4,128954,22,17446070,17446070,Silent,SNP,G,T,c.(1375-1377)acC>acA,11,28,0,77
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,CBY1,25776,22,39064146,39064146,Intron,SNP,C,T,,22,54,0,91
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,MAPK8IP2,23542,22,51043209,51043209,Silent,SNP,G,A,c.(682-684)acG>acA,7,27,0,107
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,NXF3,56000,X,102337188,102337188,Missense_Mutation,SNP,G,T,c.(883-885)aaC>aaA,4,33,0,56
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,SLC6A14,11254,X,115569018,115569018,Missense_Mutation,SNP,G,C,c.(109-111)Ggt>Cgt,4,74,0,72
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,ALDH9A1,223,1,165638680,165638681,In_Frame_Ins,INS,-,AGT,c.(937-939)tgt>tACTgt,19,27,,
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,DEAF1,10522,11,694962,694988,In_Frame_Del,DEL,GCCGCCGCCGCCACAGCGGCCGCGGCC,-,c.(58-87)gcggccgcggccgctgtggcggcggcggcc>gcc,32,53,,
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,LDHC,3948,11,18472479,18472480,Intron,INS,-,A,,3,28,,
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,HIF1A,3091,14,62193464,62193465,Frame_Shift_Ins,INS,-,T,c.(499-501)tttfs,29,52,,
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,Unknown,0,16,34404225,34404226,IGR,INS,-,A,,20,22,,
RP-1532_PCProject_0190_T1_v1_Exome_OnPrem,USP9X,8239,X,40999844,40999845,Intron,INS,-,T,,10,16,,
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CSMD2,114784,1,34286070,34286070,Splice_Site,SNP,C,T,c.(1198-1200)aGg>aAg,5,49,0,31
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,RP11-214L19.1,0,1,38678084,38678084,lincRNA,SNP,T,A,,5,26,0,29
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CCDC30,728621,1,43002272,43002272,Splice_Site,SNP,G,A,c.(115-117)gaG>gaA,5,85,0,36
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,FAF1,11124,1,51049327,51049327,Nonsense_Mutation,SNP,G,C,c.(1027-1029)tCa>tGa,3,27,0,21
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,C1orf173,0,1,75078341,75078341,Missense_Mutation,SNP,A,G,c.(1153-1155)Ttt>Ctt,3,22,0,13
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,C1orf173,0,1,75078343,75078343,Missense_Mutation,SNP,C,A,c.(1150-1152)gGg>gTg,3,27,0,15
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,TNFAIP8L2,79626,1,151131176,151131176,Start_Codon_SNP,SNP,G,T,c.(1-3)atG>atT,4,8,0,12
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CGN,57530,1,151504889,151504889,Silent,SNP,C,T,c.(2581-2583)atC>atT,5,39,0,21
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,NPR1,4881,1,153652175,153652175,Silent,SNP,C,T,c.(589-591)ttC>ttT,6,78,0,122
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,TMCO1,54499,1,165693958,165693958,IGR,SNP,G,T,,3,16,0,29
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,IGFN1,91156,1,201177246,201177246,Silent,SNP,T,C,c.(3223-3225)ggT>ggC,10,91,0,74
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,IGFN1,91156,1,201177278,201177278,Missense_Mutation,SNP,C,T,c.(3256-3258)gCg>gTg,11,135,0,107
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,GPR137B,7107,1,236306208,236306208,Missense_Mutation,SNP,T,G,c.(286-288)Ttc>Gtc,50,134,0,103
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,KIF26B,55083,1,245849670,245849670,Missense_Mutation,SNP,G,T,c.(3385-3387)Gtt>Ttt,4,42,0,33
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,OR2T4,127074,1,248525484,248525484,Missense_Mutation,SNP,G,A,c.(601-603)cGt>cAt,8,113,0,108
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ADD2,119,2,70931602,70931602,Intron,SNP,C,A,,16,23,0,23
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SFXN5,94097,2,73184197,73184197,Intron,SNP,G,A,,11,48,0,48
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,DPP4,1803,2,162876736,162876736,Intron,SNP,C,A,,7,86,0,39
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SCN1A,6323,2,166900487,166900487,Missense_Mutation,SNP,C,T,c.(1735-1737)Ggg>Agg,5,66,0,74
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,TTN,7273,2,179452482,179452482,Missense_Mutation,SNP,A,G,c.(58630-58632)aTa>aCa,3,22,0,12
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,MARS2,92935,2,198571144,198571144,Missense_Mutation,SNP,T,A,c.(1015-1017)Tcc>Acc,40,142,0,100
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CHL1,10752,3,239447,239447,3'UTR,SNP,G,T,,8,58,0,27
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,GOLGA4,2803,3,37365188,37365188,Missense_Mutation,SNP,A,G,c.(1810-1812)gAg>gGg,8,55,0,30
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SLC22A14,9389,3,38357052,38357052,Missense_Mutation,SNP,A,T,c.(1381-1383)gAg>gTg,5,20,0,15
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CTNNB1,1499,3,41266097,41266097,Missense_Mutation,SNP,G,T,c.(94-96)Gac>Tac,68,167,0,115
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ANO10,55129,3,43647272,43647272,Nonsense_Mutation,SNP,G,A,c.(73-75)Cag>Tag,20,68,0,106
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ITIH3,3699,3,52833101,52833101,Silent,SNP,C,T,c.(781-783)aaC>aaT,19,43,0,43
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ARHGEF3,50650,3,56779473,56779473,Silent,SNP,G,C,c.(628-630)tcC>tcG,9,28,0,36
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,PDZRN3,23024,3,73673318,73673318,Missense_Mutation,SNP,A,G,c.(658-660)tTc>tCc,21,58,0,51
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,XRN1,54464,3,142136004,142136004,Missense_Mutation,SNP,G,T,c.(1414-1416)Cat>Aat,5,71,0,30
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ACAP2,23527,3,195015931,195015931,Intron,SNP,G,T,,4,62,0,45
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,TMEM175,84286,4,950361,950361,Intron,SNP,G,T,,4,19,0,21
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,GRPEL1,80273,4,7065792,7065792,Missense_Mutation,SNP,G,T,c.(220-222)aCt>aAt,11,63,0,16
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,RFC1,5981,4,39310582,39310582,Missense_Mutation,SNP,G,A,c.(1558-1560)tCt>tTt,13,76,0,60
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,RFC1,5981,4,39310607,39310607,Nonsense_Mutation,SNP,G,A,c.(1534-1536)Caa>Taa,13,49,0,30
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,FIP1L1,81608,4,54280793,54280793,Missense_Mutation,SNP,C,A,c.(826-828)tCt>tAt,8,130,0,55
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,HELQ,113510,4,84368001,84368001,Missense_Mutation,SNP,A,C,c.(1378-1380)gTt>gGt,11,26,0,30
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,C4orf29,80167,4,128942358,128942358,Intron,SNP,G,T,,9,36,0,32
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,KIF2A,3796,5,61654059,61654059,Silent,SNP,C,T,c.(805-807)Cta>Tta,3,21,0,13
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SREK1,140890,5,65466747,65466747,Missense_Mutation,SNP,G,A,c.(1108-1110)Gca>Aca,4,41,0,50
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,BDP1,55814,5,70757686,70757686,Missense_Mutation,SNP,C,T,c.(532-534)Cca>Tca,6,76,0,32
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,BDP1,55814,5,70797401,70797401,Missense_Mutation,SNP,A,G,c.(1969-1971)Aaa>Gaa,5,62,0,29
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,B3GALT4,8705,6,33245377,33245377,Missense_Mutation,SNP,C,A,c.(181-183)Cag>Aag,4,51,0,27
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,FKBP5,2289,6,35610512,35610512,Missense_Mutation,SNP,G,C,c.(88-90)gaC>gaG,8,104,0,42
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,KCNK17,89822,6,39278727,39278727,Missense_Mutation,SNP,C,A,c.(292-294)atG>atT,6,74,0,45
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,PHF3,23469,6,64412529,64412529,Splice_Site,SNP,G,A,c.(3229-3231)caG>caA,4,27,0,29
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CASP8AP2,9994,6,90556321,90556321,RNA,SNP,G,T,,7,91,0,47
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,AK9,221264,6,109980477,109980477,Missense_Mutation,SNP,C,T,c.(583-585)gGa>gAa,5,41,0,25
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,EPB41L2,2037,6,131222269,131222269,Silent,SNP,G,C,c.(979-981)ccC>ccG,38,108,0,66
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SGK1,6446,6,134494669,134494669,Silent,SNP,C,A,c.(262-264)tcG>tcT,6,104,0,36
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SYNE1,23345,6,152469247,152469247,Silent,SNP,C,A,c.(24907-24909)ctG>ctT,5,66,0,39
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SERAC1,84947,6,158541491,158541491,Missense_Mutation,SNP,C,T,c.(1132-1134)Ggc>Agc,9,73,0,43
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,IQCE,23288,7,2636689,2636689,Intron,SNP,C,T,,8,181,0,138
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,GHRHR,2692,7,31011640,31011640,Missense_Mutation,SNP,C,T,c.(526-528)gCg>gTg,25,219,0,132
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ABCA13,154664,7,48232638,48232638,Missense_Mutation,SNP,A,G,c.(151-153)tAc>tGc,6,55,0,75
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ABCA13,154664,7,48684286,48684286,Missense_Mutation,SNP,T,C,c.(15016-15018)aTa>aCa,4,54,0,65
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,Unknown,0,7,48964282,48964282,IGR,SNP,C,T,,7,27,0,19
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CDK14,5218,7,90356077,90356077,Missense_Mutation,SNP,C,G,c.(319-321)tCc>tGc,6,86,0,83
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ATXN7L1,222255,7,105283449,105283449,Missense_Mutation,SNP,G,A,c.(697-699)tCt>tTt,7,108,0,51
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,MNX1,3110,7,156798258,156798258,Missense_Mutation,SNP,C,T,c.(1162-1164)Gac>Aac,28,43,0,84
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,KBTBD11,9920,8,1950203,1950203,Missense_Mutation,SNP,A,C,c.(844-846)gAc>gCc,4,50,0,62
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,VPS13B,157680,8,100168819,100168819,Missense_Mutation,SNP,C,T,c.(2056-2058)Cgg>Tgg,15,33,0,22
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SLC30A8,169026,8,118170047,118170047,Missense_Mutation,SNP,T,A,c.(535-537)aTc>aAc,23,56,0,60
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ADCY8,114,8,131793117,131793117,Missense_Mutation,SNP,C,A,c.(3274-3276)aGc>aTc,4,34,0,34
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,OC90,729330,8,133053947,133053947,Splice_Site,SNP,C,G,c.e5-1,11,35,2,21
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CYP11B1,1584,8,143956413,143956413,Missense_Mutation,SNP,C,T,c.(1357-1359)cGg>cAg,60,130,0,143
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,PRUNE2,158471,9,79325362,79325362,Missense_Mutation,SNP,G,A,c.(1828-1830)Cca>Tca,9,71,0,48
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,OR1L1,26737,9,125424402,125424402,Missense_Mutation,SNP,G,T,c.(556-558)atG>atT,15,35,0,33
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,NUP214,8021,9,134067670,134067670,Missense_Mutation,SNP,C,G,c.(3649-3651)tCt>tGt,8,181,0,76
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,PARD3,56288,10,34666947,34666947,Missense_Mutation,SNP,C,T,c.(1486-1488)cGg>cAg,20,38,0,57
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,PLEKHA1,59338,10,124183770,124183770,Missense_Mutation,SNP,G,A,c.(736-738)tGt>tAt,7,78,0,24
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,JAKMIP3,282973,10,133955443,133955443,Missense_Mutation,SNP,C,T,c.(1492-1494)aCg>aTg,6,108,0,88
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,KRTAP5-3,387266,11,1629559,1629559,Silent,SNP,G,A,c.(55-57)tcC>tcT,5,107,0,73
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,STK33,65975,11,8414078,8414078,Silent,SNP,G,T,c.(1522-1524)tcC>tcA,13,118,0,129
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ELP4,26610,11,31669376,31669376,Missense_Mutation,SNP,C,A,c.(1015-1017)Cca>Aca,6,46,0,51
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,LDLRAD3,143458,11,36205573,36205573,Intron,SNP,G,A,,5,61,0,34
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CRY2,1408,11,45883642,45883642,Silent,SNP,C,A,c.(745-747)gtC>gtA,38,85,0,60
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,FOLH1,2346,11,49175785,49175785,Missense_Mutation,SNP,G,A,c.(1882-1884)tCa>tTa,8,20,0,43
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CD6,923,11,60778612,60778612,Intron,SNP,G,C,,5,98,0,64
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,LRRN4CL,221091,11,62455516,62455516,Silent,SNP,G,A,c.(463-465)gcC>gcT,30,64,0,59
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,TPCN2,219931,11,68853982,68853982,Intron,SNP,C,G,,40,209,0,34
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,TPCN2,219931,11,68854036,68854036,Silent,SNP,C,T,c.(2047-2049)gtC>gtT,71,399,0,71
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ATM,472,11,108196269,108196269,Nonsense_Mutation,SNP,C,T,c.(6805-6807)Cag>Tag,8,50,0,50
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,KMT2A,4297,11,118375789,118375789,Missense_Mutation,SNP,A,G,c.(9172-9174)cAg>cGg,8,112,0,80
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,TECTA,7007,11,121028853,121028853,Missense_Mutation,SNP,C,A,c.(4609-4611)Ccc>Acc,8,181,0,122
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SLC6A13,6540,12,333240,333240,Missense_Mutation,SNP,A,G,c.(1228-1230)tTc>tCc,7,72,1,61
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,KDM5A,5927,12,432362,432362,Missense_Mutation,SNP,G,T,c.(2161-2163)Cca>Aca,11,282,0,45
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,C1S,716,12,7177871,7177871,Silent,SNP,C,A,c.(1981-1983)acC>acA,5,57,0,51
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SPATS2,65244,12,49919985,49919985,Missense_Mutation,SNP,G,A,c.(1585-1587)Ggg>Agg,4,67,0,39
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,STAT2,6773,12,56740640,56740640,Silent,SNP,C,T,c.(1822-1824)ggG>ggA,6,127,0,54
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,LRP1,4035,12,57587707,57587707,Silent,SNP,C,T,c.(7828-7830)ttC>ttT,7,99,0,74
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,AVIL,10677,12,58201141,58201141,Silent,SNP,G,T,c.(1462-1464)atC>atA,77,109,0,114
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,GALNT9,50614,12,132811438,132811438,Nonsense_Mutation,SNP,G,A,c.(250-252)Cga>Tga,7,129,0,65
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SACS,26278,13,23911507,23911507,Missense_Mutation,SNP,C,T,c.(6508-6510)Gta>Ata,5,30,0,21
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,NUPL1,9818,13,25899205,25899205,Splice_Site,SNP,G,A,c.(1030-1032)Gac>Aac,5,67,0,33
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,POSTN,10631,13,38152988,38152988,Missense_Mutation,SNP,T,A,c.(1954-1956)cAa>cTa,6,47,0,11
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,TPT1,7178,13,45912741,45912741,Intron,SNP,C,T,,4,26,0,12
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CCDC168,643677,13,103385910,103385910,Missense_Mutation,SNP,C,T,c.(3250-3252)Gaa>Aaa,3,16,0,35
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,TNFSF13B,10673,13,108959274,108959274,Missense_Mutation,SNP,G,T,c.(844-846)ttG>ttT,9,170,0,104
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ADPRHL1,113622,13,114079362,114079362,Intron,SNP,C,A,,6,41,0,29
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SRP54,6729,14,35497293,35497293,Splice_Site,SNP,G,T,c.e16-1,4,30,0,16
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,FSCB,84075,14,44974338,44974338,Missense_Mutation,SNP,G,A,c.(1852-1854)gCc>gTc,6,94,0,120
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,KIAA0586,9786,14,58908033,58908033,Intron,SNP,C,A,,9,69,0,31
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SPTB,6710,14,65249027,65249027,Missense_Mutation,SNP,C,T,c.(4246-4248)cGg>cAg,38,125,0,121
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,FNTB,2342,14,65494292,65494292,Missense_Mutation,SNP,G,A,c.(496-498)Gag>Aag,7,118,0,36
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ZFYVE26,23503,14,68274120,68274120,Missense_Mutation,SNP,C,G,c.(880-882)gGa>gCa,4,52,0,28
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CATSPERB,79820,14,92047260,92047260,Silent,SNP,C,G,c.(3322-3324)ctG>ctC,11,16,0,38
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SERPINA1,5265,14,94848951,94848951,Silent,SNP,C,T,c.(622-624)ctG>ctA,5,66,0,53
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SNHG14,0,15,25472285,25472285,RNA,SNP,T,A,,25,75,0,95
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SRP14,6727,15,40329534,40329534,Intron,SNP,G,T,,9,111,0,34
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,NUSAP1,51203,15,41663825,41663825,Missense_Mutation,SNP,G,T,c.(949-951)Ggc>Tgc,6,85,0,71
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SNX1,6642,15,64430359,64430359,IGR,SNP,G,A,,8,100,0,60
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,PPIB,5479,15,64455177,64455177,Silent,SNP,G,T,c.(7-9)cgC>cgA,39,298,0,161
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,KIF23,9493,15,69715640,69715640,Missense_Mutation,SNP,G,A,c.(706-708)Gag>Aag,10,40,0,33
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,LMAN1L,79748,15,75108991,75108991,Missense_Mutation,SNP,G,T,c.(457-459)Gtg>Ttg,7,103,1,44
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,WDR90,197335,16,711132,711132,Missense_Mutation,SNP,C,A,c.(3472-3474)tCt>tAt,15,152,0,49
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ZNF205,7755,16,3169525,3169525,Silent,SNP,C,T,c.(862-864)ggC>ggT,10,6,0,20
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CDR2,1039,16,22358588,22358588,Missense_Mutation,SNP,C,G,c.(1063-1065)Gcc>Ccc,49,122,0,100
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,NPIPB11,728888,16,29394427,29394427,Missense_Mutation,SNP,G,T,c.(1825-1827)cCc>cAc,18,317,0,352
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SETD1A,9739,16,30992083,30992083,Missense_Mutation,SNP,G,T,c.(4603-4605)gaG>gaT,5,61,0,49
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,PLEKHG4,25894,16,67321826,67321826,Silent,SNP,C,A,c.(3127-3129)tcC>tcA,26,148,0,131
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SLC12A4,6560,16,67986296,67986296,Silent,SNP,G,A,c.(706-708)taC>taT,9,114,0,72
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ADAMTS18,170692,16,77327050,77327050,Nonsense_Mutation,SNP,C,A,c.(3112-3114)Gag>Tag,5,66,0,61
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CHD3,1107,17,7803971,7803971,Missense_Mutation,SNP,G,T,c.(2899-2901)aGa>aTa,40,103,0,61
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ALOXE3,59344,17,8022065,8022065,5'Flank,SNP,G,A,,10,269,0,99
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,RP11-1094M14.11,0,17,33897858,33897858,lincRNA,SNP,C,T,,14,149,1,14
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,GPR179,440435,17,36492009,36492009,Missense_Mutation,SNP,C,T,c.(1246-1248)Gtg>Atg,26,45,0,48
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CDC6,990,17,38451720,38451720,Intron,SNP,C,A,,7,141,0,91
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,BRCA1,672,17,41256178,41256178,Silent,SNP,G,A,c.(400-402)gcC>gcT,8,193,0,88
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ARL4D,379,17,41477403,41477403,Silent,SNP,G,T,c.(301-303)gtG>gtT,35,146,0,95
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SPPL2C,162540,17,43924111,43924111,Silent,SNP,G,A,c.(1837-1839)gaG>gaA,6,52,0,48
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ABI3,51225,17,47299527,47299527,Missense_Mutation,SNP,C,T,c.(877-879)Ccc>Tcc,5,55,0,36
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SPOP,8405,17,47699431,47699431,Splice_Site,SNP,T,G,c.e4-2,11,40,0,35
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,DDX42,11325,17,61897545,61897545,IGR,SNP,C,A,,9,111,0,51
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CBX4,8535,17,77808195,77808195,Missense_Mutation,SNP,C,T,c.(1246-1248)Gag>Aag,63,152,0,113
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,CCDC11,0,18,47787432,47787432,Splice_Site,SNP,A,G,c.e3+1,4,53,0,32
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,NFATC1,4772,18,77208837,77208837,Missense_Mutation,SNP,C,T,c.(1441-1443)gCg>gTg,13,108,0,96
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ABCA7,10347,19,1063789,1063789,Missense_Mutation,SNP,G,A,c.(5878-5880)Gcg>Acg,4,27,0,31
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,GNG7,2788,19,2538730,2538730,Intron,SNP,C,T,,7,151,0,48
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,NFIC,4782,19,3366673,3366673,Intron,SNP,C,T,,4,14,0,12
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,MUC16,94025,19,9000541,9000541,Silent,SNP,G,A,c.(40441-40443)ttC>ttT,5,45,0,40
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,NWD1,284434,19,16860088,16860088,Missense_Mutation,SNP,C,T,c.(634-636)gCg>gTg,32,72,0,54
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,GPATCH1,55094,19,33581691,33581691,Missense_Mutation,SNP,A,G,c.(214-216)Aca>Gca,4,65,0,45
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,KMT2B,9757,19,36219021,36219021,Missense_Mutation,SNP,G,T,c.(4519-4521)tGg>tTg,7,107,0,44
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,YIF1B,90522,19,38798161,38798161,Splice_Site,SNP,C,A,c.(694-696)ggG>ggT,9,146,0,91
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,PPP1R37,284352,19,45649264,45649264,Silent,SNP,C,A,c.(1948-1950)ccC>ccA,6,46,0,44
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ACPT,93650,19,51295368,51295368,Silent,SNP,C,T,c.(487-489)caC>caT,9,95,0,54
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ZNF528,84436,19,52917594,52917594,Intron,SNP,G,T,,18,30,0,34
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,PEG3,5178,19,57326752,57326752,Missense_Mutation,SNP,C,T,c.(3058-3060)Gcc>Acc,12,27,0,25
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,PDYN,5173,20,1961552,1961552,Missense_Mutation,SNP,C,T,c.(181-183)aGa>aAa,8,52,0,93
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,C20orf26,0,20,20079464,20079464,Intron,SNP,G,A,,7,42,0,21
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,LTN1,26046,21,30339288,30339288,Missense_Mutation,SNP,C,T,c.(1525-1527)Gtt>Att,5,47,0,26
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,GRIK1,2897,21,30909651,30909651,Missense_Mutation,SNP,T,G,c.(2617-2619)aAa>aCa,8,30,0,32
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,GAL3ST1,9514,22,30951501,30951501,Silent,SNP,C,T,c.(709-711)gaG>gaA,6,108,0,152
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,GCAT,23464,22,38211126,38211126,Intron,SNP,C,G,,29,40,0,28
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,DESI1,27351,22,42000118,42000118,Missense_Mutation,SNP,C,T,c.(220-222)Gtg>Atg,5,73,0,49
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,RRP7A,27341,22,42912281,42912281,Intron,SNP,T,G,,39,93,0,77
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,IL3RA,3563,X,1475123,1475123,Missense_Mutation,SNP,C,T,c.(625-627)aCt>aTt,7,12,0,45
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,DMD,1756,X,31241249,31241249,Intron,SNP,G,A,,6,65,0,43
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,MTMR8,55613,X,63580249,63580249,Intron,SNP,G,A,,4,24,0,8
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,XIST,7503,X,73066926,73066926,lincRNA,SNP,G,C,,3,20,0,20
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,FGF16,8823,X,76709664,76709664,Missense_Mutation,SNP,C,T,c.(16-18)tCa>tTa,5,43,0,32
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ARMCX5,64860,X,101858303,101858303,Missense_Mutation,SNP,G,A,c.(1234-1236)Gct>Act,5,33,0,26
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,STAG2,10735,X,123195711,123195711,Missense_Mutation,SNP,G,A,c.(1624-1626)gGg>gAg,6,85,0,29
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,BRS3,680,X,135574252,135574252,Silent,SNP,C,G,c.(916-918)gcC>gcG,4,48,0,27
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,RASA1,5921,5,86564712,86564712,Frame_Shift_Del,DEL,G,-,c.(442-444)gcgfs,48,101,,
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,ATM,472,11,108199949,108199949,Frame_Shift_Del,DEL,A,-,c.(7291-7293)aaafs,6,8,,
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,EVL,51466,14,100594926,100594927,Frame_Shift_Ins,INS,-,C,c.(553-555)cccfs,19,31,,
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,MYO1E,4643,15,59487592,59487594,Intron,DEL,GGA,-,,18,37,,
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,PIF1,80119,15,65111490,65111491,Intron,INS,-,T,,11,27,,
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,SRRM2,23524,16,2809032,2809034,In_Frame_Del,DEL,AAG,-,c.(640-642)aagdel,29,157,,
RP-1532_PCProject_0193_T1A_v2_Exome_OnPrem,INCA1,388324,17,4892837,4892841,Frame_Shift_Del,DEL,CTCTT,-,c.(277-282)aagaggfs,7,122,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,DNAJC16,23341,1,15890851,15890851,Missense_Mutation,SNP,A,G,c.(1594-1596)aAc>aGc,10,107,0,133
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,SPEN,23013,1,16259467,16259467,Missense_Mutation,SNP,G,T,c.(6730-6732)caG>caT,16,117,0,136
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,CTPS1,1503,1,41453100,41453100,Missense_Mutation,SNP,C,A,c.(394-396)Cct>Act,10,91,0,130
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,MPZL1,9019,1,167741525,167741525,Missense_Mutation,SNP,C,T,c.(271-273)tCc>tTc,5,47,0,68
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ITSN2,50618,2,24426498,24426498,Silent,SNP,C,T,c.(5089-5091)ctG>ctA,10,44,0,64
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,TSN,7247,2,122520590,122520590,Missense_Mutation,SNP,A,G,c.(382-384)gAt>gGt,4,54,0,72
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,MFF,56947,2,228211953,228211953,Missense_Mutation,SNP,C,T,c.(604-606)tCg>tTg,4,30,0,35
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,NOA1,84273,4,57829703,57829703,Silent,SNP,G,C,c.(2008-2010)cgC>cgG,12,93,0,155
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,RICTOR,253260,5,38963012,38963012,Missense_Mutation,SNP,T,C,c.(1531-1533)tAt>tGt,16,69,0,112
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,TENM2,57451,5,167622197,167622197,Nonsense_Mutation,SNP,C,T,c.(2797-2799)Cga>Tga,12,58,0,100
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,GRK6,2870,5,176867999,176867999,Missense_Mutation,SNP,G,A,c.(1621-1623)gGc>gAc,45,244,0,133
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,SLC17A3,10786,6,25862609,25862609,Missense_Mutation,SNP,G,A,c.(154-156)aCg>aTg,25,126,1,216
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,DNAH11,8701,7,21582895,21582895,Missense_Mutation,SNP,G,C,c.(31-33)cGa>cCa,6,74,0,96
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,H2AFV,94239,7,44869732,44869732,3'UTR,SNP,C,T,,5,52,0,53
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,H2AFV,94239,7,44869763,44869763,Splice_Site,SNP,C,T,c.e5-1,5,52,0,49
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ABCA13,154664,7,48337967,48337967,Silent,SNP,A,T,c.(9202-9204)gtA>gtT,4,8,0,25
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ZNF727,442319,7,63538824,63538824,Missense_Mutation,SNP,G,A,c.(1396-1398)aGc>aAc,8,70,0,120
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,GSN,2934,9,124081057,124081057,Missense_Mutation,SNP,G,A,c.(1243-1245)Gcc>Acc,58,321,0,168
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,RPS13,6207,11,17098075,17098075,Intron,SNP,A,C,,6,95,0,33
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,TMEM151A,256472,11,66062945,66062945,Missense_Mutation,SNP,G,A,c.(1228-1230)Gct>Act,17,61,0,51
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,MMP8,4317,11,102585449,102585449,Intron,SNP,G,A,,5,49,0,74
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,RDX,5962,11,110108608,110108608,Intron,SNP,C,T,,6,37,0,40
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,SCN4B,6330,11,118004863,118004863,3'UTR,SNP,A,G,,8,95,0,118
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,LRP1,4035,12,57593122,57593122,Silent,SNP,C,T,c.(9802-9804)ctC>ctT,31,221,0,129
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,DDX51,317781,12,132624722,132624722,Missense_Mutation,SNP,C,T,c.(1696-1698)Gcg>Acg,15,157,0,69
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ZC3H13,23091,13,46616312,46616312,Missense_Mutation,SNP,G,A,c.(325-327)tCc>tTc,11,73,0,91
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ATP11A,23250,13,113510400,113510400,Splice_Site,SNP,G,A,c.e20+1,13,89,0,43
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,LRR1,122769,14,50070281,50070281,Intron,SNP,T,C,,5,43,0,25
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,UNC79,57578,14,94079195,94079195,Silent,SNP,C,T,c.(3805-3807)gaC>gaT,17,37,0,87
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,PLCB2,5330,15,40590169,40590169,Intron,SNP,G,A,,5,36,0,44
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,LMF1,64788,16,1020913,1020913,Missense_Mutation,SNP,G,C,c.(67-69)tCg>tGg,12,79,0,53
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,CIITA,4261,16,11007353,11007353,Intron,SNP,A,G,,4,8,0,13
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,KIFC3,3801,16,57805344,57805344,Silent,SNP,G,A,c.(529-531)agC>agT,16,108,1,128
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,SLC4A1,6521,17,42334792,42334792,Missense_Mutation,SNP,G,A,c.(1552-1554)Cgc>Tgc,36,193,0,204
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ENTHD2,146705,17,79206115,79206115,Intron,SNP,C,A,,5,52,0,44
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ZNF516,9658,18,74153991,74153991,Silent,SNP,G,A,c.(1018-1020)tgC>tgT,29,605,0,285
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,CCDC105,126402,19,15132166,15132166,Splice_Site,SNP,G,A,c.(874-876)gcG>gcA,9,68,0,57
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,GATAD2A,54815,19,19551134,19551134,Intron,SNP,G,C,,3,7,0,10
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ZNF708,7562,19,21476519,21476519,Missense_Mutation,SNP,T,C,c.(1249-1251)Aag>Gag,10,62,0,80
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ZNF99,7652,19,22937025,22937025,IGR,SNP,T,C,,6,50,0,50
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ZNF233,353355,19,44778739,44778739,Silent,SNP,T,C,c.(1924-1926)caT>caC,4,46,0,74
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ZNF233,353355,19,44778742,44778742,Silent,SNP,T,A,c.(1927-1929)acT>acA,4,44,0,72
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,PLEKHA4,57664,19,49362850,49362850,Missense_Mutation,SNP,G,A,c.(568-570)Cgc>Tgc,24,170,1,127
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,KRTAP8-1,337879,21,32185398,32185398,Silent,SNP,G,A,c.(139-141)aaC>aaT,24,124,0,110
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,TSPEAR,54084,21,45929257,45929257,Missense_Mutation,SNP,C,G,c.(1579-1581)Gca>Cca,4,30,0,40
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,Unknown,0,22,25714346,25714346,IGR,SNP,C,T,,29,65,0,77
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,APOL6,80830,22,36055627,36055627,Missense_Mutation,SNP,A,G,c.(1015-1017)tAt>tGt,4,17,0,37
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,RAC2,5880,22,37622808,37622808,Nonsense_Mutation,SNP,G,A,c.(484-486)Cag>Tag,66,501,1,256
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,CUL4B,8450,X,119664036,119664036,Missense_Mutation,SNP,C,A,c.(2566-2568)cGa>cTa,6,20,0,64
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,OSBPL9,114883,1,52135277,52135280,Intron,DEL,GCAA,-,,4,16,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,NDC1,55706,1,54284820,54284821,Intron,INS,-,C,,4,60,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,CELSR2,1952,1,109794829,109794829,Frame_Shift_Del,DEL,C,-,c.(2128-2130)cctfs,19,113,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,RORC,6097,1,151804006,151804007,Intron,INS,-,GC,,2,8,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,SLC8A1,6546,2,40405677,40405677,Intron,DEL,G,-,,5,40,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ITPR1,3708,3,4562839,4562840,Intron,INS,-,G,,4,36,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,FOXP1,27086,3,71179580,71179581,Intron,INS,-,G,,3,14,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ZNF148,7707,3,124952600,124952601,Frame_Shift_Ins,INS,-,T,c.(967-972)aaatcafs,5,27,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,RIOK2,55781,5,96503204,96503204,Frame_Shift_Del,DEL,A,-,c.(1363-1365)ttgfs,4,34,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,8,7,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,DPP6,1804,7,154461154,154461154,Intron,DEL,A,-,,9,38,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,MFSD3,113655,8,145737104,145737106,IGR,DEL,CTT,-,,39,227,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,SLC44A1,23446,9,108123648,108123649,Intron,INS,-,C,,1,1,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,AGAP11,119385,10,88764185,88764186,RNA,INS,-,G,,4,8,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ABCC9,10060,12,22015793,22015794,Intron,INS,-,GATT,,0,2,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,PAN2,9924,12,56716743,56716744,Intron,INS,-,T,,11,6,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,HSP90B1,7184,12,104341113,104341115,In_Frame_Del,DEL,CCT,-,c.(2287-2289)cctdel,5,21,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,AMN,81693,14,103395020,103395024,Intron,DEL,GCGTG,-,,4,166,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ATXN2L,11273,16,28837107,28837108,Frame_Shift_Ins,INS,-,AA,c.(409-414)gtaaagfs,13,83,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ACACA,31,17,35446130,35446132,Intron,DEL,TCA,-,,3,13,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,ATCAY,85300,19,3895253,3895254,Intron,INS,-,C,,3,26,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,WDR87,83889,19,38379153,38379154,Frame_Shift_Ins,INS,-,G,c.(5038-5043)gcaaagfs,12,43,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,FUT1,2523,19,49254370,49254371,Frame_Shift_Ins,INS,-,A,c.(166-171)tgcctgfs,0,23,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,SCUBE1,80274,22,43651437,43651440,Intron,DEL,TGTG,-,,6,45,,
RP-1532_PCProject_0212_T1_v4_Exome_OnPrem,AMELY,266,Y,6738161,6738162,Intron,INS,-,A,,2,12,,
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,RBP7,116362,1,10057382,10057382,Silent,SNP,G,A,c.(64-66)ctG>ctA,6,76,0,215
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,DNAJC16,23341,1,15890465,15890465,Silent,SNP,G,A,c.(1378-1380)gtG>gtA,29,74,0,104
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,F5,2153,1,169524553,169524553,Missense_Mutation,SNP,A,G,c.(985-987)Tgc>Cgc,85,195,1,319
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,HMCN1,83872,1,186158885,186158885,Nonsense_Mutation,SNP,C,T,c.(16783-16785)Cga>Tga,8,22,1,65
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,GCKR,2646,2,27729704,27729704,Missense_Mutation,SNP,A,T,c.(1018-1020)Atc>Ttc,39,102,0,337
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,EML4,27436,2,42543187,42543187,Missense_Mutation,SNP,A,G,c.(2053-2055)Ata>Gta,31,65,0,64
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,SOCS5,9655,2,46985888,46985888,Missense_Mutation,SNP,G,T,c.(217-219)aaG>aaT,18,131,1,166
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,GKN2,200504,2,69173586,69173586,Missense_Mutation,SNP,C,A,c.(322-324)Gac>Tac,14,39,0,58
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,ITGB6,3694,2,160982882,160982882,Intron,SNP,G,T,,17,36,0,82
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,RBMS1,5937,2,161223737,161223737,Missense_Mutation,SNP,G,A,c.(241-243)Ctc>Ttc,5,85,0,103
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,ORC2,4999,2,201791519,201791519,Missense_Mutation,SNP,C,G,c.(1021-1023)gGc>gCc,5,77,0,134
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,DIS3L2,129563,2,233075109,233075109,Missense_Mutation,SNP,G,A,c.(1198-1200)Gct>Act,45,119,0,208
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,RAD18,56852,3,8983193,8983193,Missense_Mutation,SNP,G,T,c.(562-564)Cct>Act,5,114,0,129
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,VILL,50853,3,38035758,38035758,Nonsense_Mutation,SNP,C,T,c.(142-144)Cag>Tag,8,236,0,266
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,ZNF197,10168,3,44685245,44685245,Missense_Mutation,SNP,G,A,c.(2623-2625)Gaa>Aaa,5,106,0,121
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,DNAH1,25981,3,52395742,52395742,Missense_Mutation,SNP,C,T,c.(4939-4941)gCg>gTg,12,51,0,104
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,FETUB,26998,3,186358480,186358480,Intron,SNP,T,C,,15,40,0,123
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,ATOH1,474,4,94750516,94750516,Missense_Mutation,SNP,G,A,c.(439-441)Gcc>Acc,22,75,0,132
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,UGT3A1,133688,5,35965633,35965633,Missense_Mutation,SNP,G,A,c.(697-699)tCt>tTt,34,84,0,250
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,SKIV2L2,23517,5,54674988,54674988,Missense_Mutation,SNP,G,A,c.(2017-2019)Gta>Ata,6,124,0,138
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,PCDHA1,56147,5,140167921,140167921,Silent,SNP,G,A,c.(2044-2046)gcG>gcA,8,57,0,177
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,ZNF292,23036,6,87970984,87970984,Missense_Mutation,SNP,A,G,c.(7636-7638)aAa>aGa,28,37,0,126
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,BEND3,57673,6,107392126,107392126,Missense_Mutation,SNP,T,C,c.(268-270)gAg>gGg,6,18,0,57
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,WTAP,9589,6,160176087,160176087,Missense_Mutation,SNP,A,T,c.(634-636)gAt>gTt,37,52,0,65
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,PAPOLB,56903,7,4901162,4901162,Missense_Mutation,SNP,C,A,c.(277-279)Gtt>Ttt,4,51,0,113
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,BRAF,673,7,140481402,140481402,Missense_Mutation,SNP,C,G,c.(1405-1407)gGa>gCa,82,157,0,317
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,SHH,6469,7,155596223,155596223,Missense_Mutation,SNP,C,T,c.(760-762)Gtg>Atg,48,84,0,269
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,MROH5,389690,8,142482949,142482949,RNA,SNP,C,A,,4,39,0,139
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,GGTA1P,2681,9,124241369,124241369,RNA,SNP,T,G,,5,94,0,167
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,TSC1,7248,9,135780990,135780990,Missense_Mutation,SNP,C,A,c.(1975-1977)Gcg>Tcg,37,117,1,225
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,GTPBP4,23560,10,1045036,1045036,Splice_Site,SNP,G,T,c.e6+1,23,75,0,133
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,MCM10,55388,10,13213211,13213211,Silent,SNP,G,A,c.(295-297)agG>agA,6,57,0,112
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,CTC-497E21.3,0,11,13031444,13031444,lincRNA,SNP,G,A,,15,29,0,87
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,LRRN4CL,221091,11,62455907,62455907,Missense_Mutation,SNP,G,C,c.(73-75)cCt>cGt,25,69,0,118
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,EHBP1L1,254102,11,65351212,65351212,Silent,SNP,G,A,c.(3067-3069)gaG>gaA,3,15,0,36
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,SUV420H1,51111,11,67946949,67946949,Intron,SNP,C,A,,28,108,0,140
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,SYTL2,54843,11,85431898,85431898,Intron,SNP,C,T,,6,94,1,119
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,HEPHL1,341208,11,93844188,93844188,Silent,SNP,C,T,c.(3163-3165)atC>atT,19,46,0,67
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,RACGAP1,29127,12,50399063,50399063,Missense_Mutation,SNP,G,T,c.(400-402)tCc>tAc,7,135,1,191
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,MYRFL,196446,12,70352315,70352315,3'UTR,SNP,G,C,,5,87,0,114
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,POC1B,282809,12,89864138,89864138,Splice_Site,SNP,C,T,c.(808-810)acG>acA,17,36,0,47
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,Unknown,0,13,75814434,75814434,IGR,SNP,C,A,,56,154,0,369
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,DOCK9,23348,13,99489775,99489775,Silent,SNP,C,T,c.(4216-4218)acG>acA,45,91,0,165
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,COL4A2,1284,13,111164351,111164351,Missense_Mutation,SNP,G,A,c.(4951-4953)cGc>cAc,29,98,0,219
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,TUBGCP3,10426,13,113181707,113181707,Missense_Mutation,SNP,G,A,c.(1426-1428)aCg>aTg,3,22,0,52
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,MYH6,4624,14,23862583,23862583,Missense_Mutation,SNP,A,T,c.(3073-3075)Tct>Act,17,72,0,247
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,DCAF11,80344,14,24584913,24584913,Missense_Mutation,SNP,A,G,c.(109-111)gAt>gGt,34,96,0,106
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,KIAA0586,9786,14,58965545,58965545,Silent,SNP,C,A,c.(3988-3990)ccC>ccA,15,33,0,108
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,GTF2A1,2957,14,81669093,81669093,Intron,SNP,C,T,,50,148,0,173
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,C14orf132,56967,14,96556944,96556944,Missense_Mutation,SNP,G,T,c.(61-63)aaG>aaT,10,48,0,106
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,ADAM10,102,15,58913761,58913761,Missense_Mutation,SNP,C,T,c.(1420-1422)Ggc>Agc,98,187,1,282
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,RP11-114H24.4,0,15,78233871,78233871,RNA,SNP,G,A,,4,48,1,164
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,SOX8,30812,16,1031169,1031169,5'Flank,SNP,C,T,,4,45,0,88
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,SNX29,92017,16,12093188,12093188,Silent,SNP,G,A,c.(40-42)ctG>ctA,16,51,0,127
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,MVD,4597,16,88723634,88723634,Intron,SNP,G,A,,5,43,0,88
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,EFCAB5,374786,17,28414099,28414099,Missense_Mutation,SNP,C,T,c.(3598-3600)Cgc>Tgc,5,91,0,150
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,ERBB2,2064,17,37863247,37863247,Silent,SNP,C,T,c.(76-78)tgC>tgT,3,14,0,19
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,ZBTB7A,51341,19,4054335,4054335,Missense_Mutation,SNP,C,T,c.(895-897)gGa>gAa,15,42,0,95
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,MYH7B,57644,20,33573975,33573975,Missense_Mutation,SNP,T,G,c.(1003-1005)cTc>cGc,17,69,0,204
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,AP000350.4,0,22,24237666,24237666,Missense_Mutation,SNP,C,G,c.(139-141)Gat>Cat,15,36,0,82
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,TTLL12,23170,22,43576920,43576920,Missense_Mutation,SNP,G,A,c.(373-375)aCg>aTg,4,51,0,95
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,EFCAB6,64800,22,43996075,43996075,Missense_Mutation,SNP,G,A,c.(2749-2751)tCg>tTg,22,51,0,153
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,ANTXR2,118429,4,80905881,80905885,Intron,DEL,TTATC,-,,25,97,,
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,THSD7A,221981,7,11860720,11860721,Intron,INS,-,TGTAACT,,13,24,,
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,TP53,7157,17,7577498,7577510,Splice_Site,DEL,CCTGGAGTCTTCC,-,c.(769-783)ctggaagactccagg>ct,6,64,,
RP-1532_PCProject_0213_T1_v2_Exome_OnPrem,MCOLN1,57192,19,7600387,7600387,IGR,DEL,T,-,,23,95,,
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,CASZ1,54897,1,10699537,10699537,Missense_Mutation,SNP,G,A,c.(4741-4743)aCg>aTg,5,208,1,136
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ZBTB17,7709,1,16273486,16273486,Missense_Mutation,SNP,G,A,c.(337-339)tCa>tTa,61,141,0,108
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,C1orf64,149563,1,16332450,16332450,Missense_Mutation,SNP,C,T,c.(118-120)aCg>aTg,4,64,0,40
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,INPP5B,3633,1,38397707,38397707,Missense_Mutation,SNP,C,A,c.(409-411)cGg>cTg,4,77,0,68
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,TIE1,7075,1,43775178,43775178,Missense_Mutation,SNP,C,A,c.(1306-1308)agC>agA,4,44,0,33
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,VTCN1,79679,1,117699286,117699286,Missense_Mutation,SNP,T,C,c.(355-357)Aac>Gac,5,200,0,84
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,HMGCS2,3158,1,120295279,120295279,Missense_Mutation,SNP,A,C,c.(1312-1314)tTg>tGg,224,324,0,334
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,PIP5K1A,8394,1,151220424,151220424,IGR,SNP,A,G,,52,178,0,126
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,PBXIP1,57326,1,154920138,154920138,Missense_Mutation,SNP,C,T,c.(718-720)Gaa>Aaa,13,188,0,109
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,PVRL4,81607,1,161047544,161047544,Intron,SNP,G,A,,4,94,0,53
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,TNN,63923,1,175046611,175046611,Silent,SNP,C,T,c.(55-57)ctC>ctT,34,154,0,81
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,OBSCN,84033,1,228461098,228461098,Intron,SNP,G,A,,6,352,0,296
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,GNPAT,8443,1,231376855,231376855,5'Flank,SNP,C,A,,18,147,0,81
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,RGS7,6000,1,241262054,241262054,Silent,SNP,G,A,c.(85-87)gaC>gaT,88,178,1,183
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,OR14I1,401994,1,248844712,248844712,Silent,SNP,G,T,c.(892-894)gcC>gcA,4,113,0,50
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,SLC5A6,8884,2,27435160,27435160,5'Flank,SNP,G,T,,173,323,0,323
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,STRN,6801,2,37113977,37113977,Intron,SNP,G,T,,58,104,0,53
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,OTX1,5013,2,63280156,63280156,Missense_Mutation,SNP,G,A,c.(31-33)Ggc>Agc,6,214,0,103
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ALMS1,7840,2,73800333,73800333,Missense_Mutation,SNP,G,A,c.(11326-11328)Gaa>Aaa,4,103,0,50
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ERCC3,2071,2,128051638,128051638,Missense_Mutation,SNP,G,A,c.(19-21)gCg>gTg,5,223,0,187
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,SP5,389058,2,171572866,171572866,Missense_Mutation,SNP,C,T,c.(148-150)gCg>gTg,8,537,0,338
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,WNT6,7475,2,219735888,219735888,Nonsense_Mutation,SNP,C,T,c.(220-222)Cga>Tga,5,226,0,149
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ESPNL,339768,2,239010600,239010600,Missense_Mutation,SNP,G,A,c.(313-315)Gtc>Atc,6,291,0,207
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,GRM7,2917,3,7348331,7348331,Missense_Mutation,SNP,C,T,c.(1024-1026)aCg>aTg,4,107,0,61
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,IQSEC1,9922,3,12944291,12944291,Silent,SNP,C,T,c.(2827-2829)tcG>tcA,6,348,0,221
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,SCN11A,11280,3,38966909,38966909,Missense_Mutation,SNP,A,G,c.(709-711)Tca>Cca,31,143,0,88
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ZNF619,285267,3,40525223,40525223,Intron,SNP,G,A,,4,81,0,37
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,LAMB2,3913,3,49160403,49160403,Missense_Mutation,SNP,C,T,c.(4306-4308)cGc>cAc,5,213,0,171
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,BTLA,151888,3,112188620,112188620,Silent,SNP,T,A,c.(577-579)ggA>ggT,7,242,0,82
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ADCY5,111,3,123166970,123166970,Silent,SNP,C,T,c.(421-423)gcG>gcA,3,29,0,17
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,CLRN1,7401,3,150645761,150645761,Missense_Mutation,SNP,C,T,c.(661-663)Gca>Aca,6,345,0,187
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,GOLIM4,27333,3,167762646,167762646,Silent,SNP,A,G,c.(334-336)agT>agC,34,148,0,21
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,RGS12,6002,4,3318304,3318304,Missense_Mutation,SNP,G,A,c.(406-408)cGa>cAa,8,349,0,185
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,AFF1,4299,4,88053494,88053494,Missense_Mutation,SNP,G,A,c.(3223-3225)cGt>cAt,51,85,0,78
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,SLC12A7,10723,5,1084051,1084051,Missense_Mutation,SNP,C,T,c.(937-939)cGc>cAc,5,234,0,149
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,MYO10,4651,5,16694490,16694490,Nonsense_Mutation,SNP,G,A,c.(3790-3792)Cga>Tga,6,213,0,111
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,CARD6,84674,5,40852415,40852415,Missense_Mutation,SNP,G,T,c.(979-981)tgG>tgT,43,279,0,150
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,8-Sep,23176,5,132101186,132101186,Silent,SNP,G,A,c.(64-66)ggC>ggT,28,143,0,75
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,PCDHA1,56147,5,140166214,140166214,Silent,SNP,G,A,c.(337-339)ccG>ccA,155,269,0,214
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,PCDHB16,57717,5,140563772,140563772,Silent,SNP,G,A,c.(1636-1638)ctG>ctA,7,306,0,324
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,C5orf54,0,5,159822376,159822376,Missense_Mutation,SNP,T,C,c.(121-123)gAc>gGc,74,409,0,198
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,NRSN1,140767,6,24145856,24145856,Silent,SNP,C,T,c.(268-270)atC>atT,13,209,0,86
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,MUC22,100507679,6,30994370,30994370,Missense_Mutation,SNP,G,A,c.(1162-1164)Gtc>Atc,4,109,0,73
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,LY6G6C,80740,6,31691703,31691703,5'Flank,SNP,C,T,,3,29,0,23
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,PACSIN1,29993,6,34496643,34496643,Missense_Mutation,SNP,A,C,c.(445-447)Aag>Cag,58,93,0,86
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,UFL1,23376,6,96996162,96996162,Intron,SNP,G,A,,4,94,0,63
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,THBS2,7058,6,169635006,169635006,Intron,SNP,C,T,,4,85,0,81
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,PON1,5444,7,94931625,94931625,Silent,SNP,G,A,c.(799-801)ctC>ctT,7,369,0,190
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,LAMB1,3912,7,107642063,107642063,Silent,SNP,C,T,c.(151-153)tcG>tcA,27,176,0,90
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,PTPRN2,5799,7,157959937,157959937,Missense_Mutation,SNP,G,A,c.(595-597)aCg>aTg,4,89,0,79
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,R3HCC1,203069,8,23145659,23145659,Silent,SNP,C,A,c.(91-93)Cga>Aga,3,55,0,53
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,CDH17,1015,8,95186353,95186353,Missense_Mutation,SNP,C,T,c.(559-561)gGa>gAa,6,160,0,67
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,FER1L6,654463,8,125131868,125131868,Missense_Mutation,SNP,C,T,c.(5410-5412)tCg>tTg,5,88,0,34
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,MYC,4609,8,128750837,128750837,Missense_Mutation,SNP,T,C,c.(328-330)aTg>aCg,67,128,0,83
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,SMU1,55234,9,33068929,33068929,Missense_Mutation,SNP,A,G,c.(394-396)Tac>Cac,74,128,0,79
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,WNK2,65268,9,96024378,96024378,Missense_Mutation,SNP,C,T,c.(3349-3351)Cca>Tca,4,82,0,55
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,RABEPK,10244,9,127962972,127962972,5'UTR,SNP,G,A,,6,261,1,123
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,NUP214,8021,9,134049544,134049544,Missense_Mutation,SNP,C,A,c.(2995-2997)gCa>gAa,125,221,0,192
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,EHMT1,79813,9,140728963,140728963,Missense_Mutation,SNP,G,A,c.(3703-3705)Ggc>Agc,6,356,0,265
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,OPN4,94233,10,88414578,88414578,Missense_Mutation,SNP,C,A,c.(37-39)cCa>cAa,11,242,0,152
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,TLX1,3195,10,102896671,102896671,3'UTR,SNP,G,A,,4,105,0,101
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,COL17A1,1308,10,105794102,105794102,Intron,SNP,G,A,,4,103,0,77
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,PRLHR,2834,10,120354177,120354177,Missense_Mutation,SNP,C,T,c.(580-582)Gcc>Acc,4,86,0,43
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,VENTX,27287,10,135053177,135053177,Intron,SNP,C,G,,4,135,0,113
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,RIC8A,60626,11,209715,209715,Silent,SNP,T,C,c.(439-441)cgT>cgC,10,377,0,189
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,CCDC34,91057,11,27362247,27362247,Silent,SNP,A,T,c.(901-903)ctT>ctA,5,123,0,72
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,MALAT1,378938,11,65267303,65267303,lincRNA,SNP,A,G,,3,65,0,38
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,TSGA10IP,254187,11,65721212,65721212,RNA,SNP,G,A,,4,54,0,50
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,USP35,57558,11,77907734,77907734,Missense_Mutation,SNP,T,C,c.(442-444)cTg>cCg,23,150,0,105
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,NPAT,4863,11,108079283,108079283,Intron,SNP,C,T,,60,91,0,64
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,KMT2A,4297,11,118377186,118377186,Missense_Mutation,SNP,C,T,c.(10570-10572)Cgg>Tgg,6,279,0,140
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,OR10G4,390264,11,123886283,123886283,Splice_Site,SNP,T,A,c.(1-3)aTg>aAg,4,113,0,88
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ADAMTS15,170689,11,130341111,130341111,Silent,SNP,C,T,c.(1909-1911)gaC>gaT,4,67,0,36
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,C12orf57,113246,12,7053857,7053857,Intron,SNP,G,A,,4,82,0,79
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,PDE3A,5139,12,20522733,20522733,Missense_Mutation,SNP,C,T,c.(514-516)gCg>gTg,24,171,0,105
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,BHLHE41,79365,12,26275793,26275793,Missense_Mutation,SNP,G,C,c.(655-657)Ccc>Gcc,56,220,1,197
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ADCY6,112,12,49162492,49162492,Missense_Mutation,SNP,G,A,c.(3388-3390)aCg>aTg,4,114,0,97
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,PHLDA1,22822,12,76425387,76425387,Silent,SNP,C,A,c.(133-135)ggG>ggT,4,105,0,56
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,PTPRQ,374462,12,80855803,80855803,Missense_Mutation,SNP,G,A,c.(520-522)Gtg>Atg,6,235,0,114
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,LRRIQ1,84125,12,85547849,85547849,Missense_Mutation,SNP,C,T,c.(4696-4698)tCg>tTg,4,108,0,36
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,NUAK1,9891,12,106480579,106480579,Missense_Mutation,SNP,C,T,c.(445-447)cGc>cAc,9,237,0,121
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,BTBD11,121551,12,107713270,107713270,Missense_Mutation,SNP,G,A,c.(553-555)Gca>Aca,5,234,0,130
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,MLXIP,22877,12,122617887,122617887,5'UTR,SNP,T,C,,3,34,0,32
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,DHX37,57647,12,125450247,125450247,Missense_Mutation,SNP,C,T,c.(1702-1704)Gat>Aat,4,80,0,59
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,EP400,57634,12,132530102,132530102,Silent,SNP,G,A,c.(7129-7131)ctG>ctA,5,162,0,117
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,TBC1D4,9882,13,76055668,76055668,Missense_Mutation,SNP,G,A,c.(235-237)gCc>gTc,5,202,0,176
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,AJUBA,84962,14,23450969,23450969,Silent,SNP,G,A,c.(505-507)taC>taT,6,346,0,151
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,MIPOL1,145282,14,37969246,37969246,Missense_Mutation,SNP,A,T,c.(1165-1167)Act>Tct,30,163,0,103
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,NIN,51199,14,51228625,51228625,Silent,SNP,G,A,c.(1777-1779)ctC>ctT,6,212,1,86
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,SLC25A29,123096,14,100762241,100762241,Intron,SNP,C,T,,62,332,0,248
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,AHNAK2,113146,14,105418779,105418779,Silent,SNP,G,A,c.(3007-3009)ttC>ttT,9,454,0,409
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,LTK,4058,15,41803408,41803408,Silent,SNP,G,A,c.(949-951)ggC>ggT,16,44,0,65
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,DUOX2,50506,15,45402838,45402838,Intron,SNP,G,A,,6,346,1,206
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,STARD5,80765,15,81616233,81616233,Intron,SNP,G,T,,66,101,0,53
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,TMC3,342125,15,81665005,81665005,Nonsense_Mutation,SNP,G,A,c.(163-165)Cag>Tag,6,349,0,146
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,RHBDF1,64285,16,111086,111086,Intron,SNP,C,T,,5,180,0,134
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,MSLN,10232,16,816065,816065,Missense_Mutation,SNP,C,T,c.(901-903)gCc>gTc,5,127,0,57
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,NAGPA,51172,16,5080455,5080455,Missense_Mutation,SNP,G,A,c.(721-723)aCg>aTg,8,568,0,389
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,GRIN2A,2903,16,9858812,9858812,Intron,SNP,G,T,,65,260,0,231
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,APOBR,55911,16,28506452,28506452,Silent,SNP,G,A,c.(88-90)ctG>ctA,3,54,0,33
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,PAGR1,79447,16,29828250,29828250,Missense_Mutation,SNP,G,A,c.(403-405)cGg>cAg,6,324,0,185
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,RNF40,9810,16,30776285,30776285,Missense_Mutation,SNP,G,A,c.(676-678)Gct>Act,5,228,0,116
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,PKD1L3,342372,16,71986946,71986946,RNA,SNP,A,G,,5,154,0,90
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,RTN4RL1,146760,17,1840676,1840676,Missense_Mutation,SNP,C,T,c.(439-441)gGc>gAc,14,157,0,134
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ASPA,443,17,3386857,3386857,Missense_Mutation,SNP,C,A,c.(496-498)aCc>aAc,155,305,0,212
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,SLC13A5,284111,17,6590982,6590982,Missense_Mutation,SNP,G,A,c.(1441-1443)Cgc>Tgc,5,92,0,58
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,MYH3,4621,17,10555781,10555781,Missense_Mutation,SNP,C,T,c.(304-306)Gtg>Atg,7,490,0,314
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,KRT23,25984,17,39086293,39086293,Nonsense_Mutation,SNP,G,A,c.(535-537)Cga>Tga,27,299,0,164
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,KRT40,125115,17,39138693,39138693,Missense_Mutation,SNP,G,A,c.(553-555)Cgc>Tgc,54,89,0,71
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,KRTAP1-1,81851,17,39197251,39197251,Silent,SNP,G,A,c.(397-399)tgC>tgT,6,300,0,196
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,SPOP,8405,17,47696643,47696643,Missense_Mutation,SNP,A,C,c.(304-306)tTc>tGc,157,222,0,189
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ENDOV,284131,17,78401636,78401636,Intron,SNP,C,T,,4,96,0,51
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,KCTD1,284252,18,24128031,24128031,Intron,SNP,G,A,,3,35,0,23
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,THEG,51298,19,362257,362257,Missense_Mutation,SNP,G,C,c.(1081-1083)agC>agG,4,68,0,36
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,SHC2,25759,19,434722,434722,Missense_Mutation,SNP,G,A,c.(1096-1098)aCg>aTg,4,118,0,49
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,HCN2,610,19,603979,603979,Intron,SNP,C,G,,14,53,1,37
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,MYO1F,4542,19,8601257,8601257,Missense_Mutation,SNP,G,A,c.(1921-1923)aCg>aTg,5,191,0,124
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,MUC16,94025,19,9091407,9091407,Silent,SNP,T,A,c.(406-408)acA>acT,6,142,0,136
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,MAST1,22983,19,12975719,12975719,Nonsense_Mutation,SNP,T,A,c.(1462-1464)tTg>tAg,24,249,0,173
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,CACNA1A,773,19,13319640,13319640,Missense_Mutation,SNP,C,T,c.(6709-6711)cGg>cAg,41,160,0,152
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,CYP4F12,66002,19,15784079,15784079,Intron,SNP,C,A,,16,42,0,34
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,FFAR1,2864,19,35842958,35842958,Silent,SNP,G,A,c.(502-504)ccG>ccA,190,368,0,491
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,MAP4K1,11184,19,39090726,39090726,Silent,SNP,C,T,c.(1597-1599)acG>acA,18,201,0,148
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,CGB7,94027,19,49560461,49560461,5'UTR,SNP,G,A,,5,204,0,146
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,TRPM4,54795,19,49703672,49703672,Missense_Mutation,SNP,G,C,c.(2761-2763)Gtc>Ctc,13,320,0,191
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,DKKL1,27120,19,49877969,49877969,Intron,SNP,C,A,,3,28,0,17
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ZNF211,10520,19,58141719,58141719,5'Flank,SNP,G,T,,6,29,0,8
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ZMYND8,23613,20,45927560,45927560,Nonsense_Mutation,SNP,G,T,c.(304-306)tgC>tgA,100,641,0,364
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,CASS4,57091,20,55027042,55027042,Silent,SNP,C,T,c.(808-810)caC>caT,8,316,0,152
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,GNAS,2778,20,57429781,57429781,Missense_Mutation,SNP,C,T,c.(1270-1272)tCg>tTg,23,220,0,203
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,LAMA5,3911,20,60928317,60928317,Intron,SNP,G,A,,5,191,0,66
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,CHRNA4,1137,20,61976231,61976231,3'UTR,SNP,G,A,,4,28,0,19
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,AIRE,326,21,45706925,45706925,Silent,SNP,G,A,c.(370-372)ccG>ccA,54,171,0,180
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,GNB1L,54584,22,19808770,19808770,Missense_Mutation,SNP,G,A,c.(109-111)Cgc>Tgc,4,107,0,58
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ARVCF,421,22,19958870,19958870,Intron,SNP,G,A,,4,109,0,112
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ZDHHC8,29801,22,20136981,20136981,IGR,SNP,G,A,,5,198,0,133
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,DEPDC5,9681,22,32302480,32302480,Silent,SNP,G,A,c.(4780-4782)ccG>ccA,4,93,0,84
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,APOL5,80831,22,36123215,36123215,Missense_Mutation,SNP,G,A,c.(1099-1101)cGa>cAa,4,98,0,78
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,IL2RB,3560,22,37538784,37538784,Intron,SNP,G,A,,4,67,0,49
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,TTLL1,25809,22,43460206,43460206,Missense_Mutation,SNP,G,A,c.(628-630)Cgc>Tgc,5,170,0,75
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ZBED4,9889,22,50279160,50279160,Nonsense_Mutation,SNP,C,A,c.(1849-1851)tCg>tAg,4,83,0,45
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ALG12,79087,22,50297720,50297720,Intron,SNP,G,A,,24,466,0,347
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,CLCN4,1183,X,10182008,10182008,Missense_Mutation,SNP,G,A,c.(1864-1866)Gtg>Atg,5,159,0,81
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,CHST7,56548,X,46433906,46433906,Silent,SNP,C,T,c.(538-540)cgC>cgT,4,116,0,86
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,CHST7,56548,X,46434611,46434611,Silent,SNP,C,T,c.(1243-1245)ggC>ggT,4,116,0,77
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,FAAH2,158584,X,57515368,57515368,3'UTR,SNP,G,A,,4,115,0,45
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,PHKA1,5255,X,71839063,71839063,Splice_Site,SNP,C,T,c.e20+1,7,222,0,109
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,SMARCA1,6594,X,128645834,128645834,Nonsense_Mutation,SNP,G,A,c.(757-759)Cga>Tga,4,92,0,51
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,GPC3,2719,X,132670246,132670246,Missense_Mutation,SNP,C,T,c.(1648-1650)aGc>aAc,5,230,0,132
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,ATP6AP1,537,X,153657039,153657039,Start_Codon_SNP,SNP,A,G,c.(1-3)Atg>Gtg,122,48,0,94
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,PTPRC,5788,1,198704400,198704400,Intron,DEL,T,-,,27,125,,
RP-1532_PCProject_0215_T1_v4_Exome_OnPrem,TCF12,6938,15,57212252,57212252,Intron,DEL,C,-,,19,82,,
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SCNN1D,6339,1,1225870,1225870,Silent,SNP,C,T,c.(1300-1302)taC>taT,4,147,0,95
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,LRRC47,57470,1,3703536,3703536,Silent,SNP,G,A,c.(952-954)ccC>ccT,6,484,0,236
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,KCNAB2,8514,1,6111611,6111611,Intron,SNP,G,A,,4,142,0,102
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PLEKHG5,57449,1,6529456,6529456,Missense_Mutation,SNP,G,A,c.(2155-2157)aCg>aTg,6,390,0,301
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PRDM2,7799,1,14106182,14106182,Missense_Mutation,SNP,G,A,c.(1891-1893)aGc>aAc,4,104,0,51
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SPEN,23013,1,16256275,16256275,Silent,SNP,G,A,c.(3538-3540)caG>caA,7,291,0,120
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SPEN,23013,1,16264457,16264457,Missense_Mutation,SNP,C,T,c.(10660-10662)Cgg>Tgg,4,115,0,72
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MTFR1L,56181,1,26156239,26156239,Missense_Mutation,SNP,G,A,c.(691-693)Gtc>Atc,6,303,0,158
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,POMGNT1,55624,1,46662529,46662529,Intron,SNP,G,A,,7,610,0,293
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,FAM151A,338094,1,55078304,55078304,Missense_Mutation,SNP,G,A,c.(655-657)Cca>Tca,5,269,0,167
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PGM1,5236,1,64097433,64097433,Missense_Mutation,SNP,G,A,c.(661-663)cGt>cAt,8,376,0,160
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,Unknown,0,1,146232606,146232606,IGR,SNP,T,C,,7,224,0,203
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,LOR,4014,1,153233557,153233557,Silent,SNP,C,T,c.(130-132)ggC>ggT,4,121,0,74
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,BCAN,63827,1,156617400,156617400,Silent,SNP,G,A,c.(565-567)ccG>ccA,5,140,0,70
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,KIRREL,55243,1,158064457,158064457,Silent,SNP,C,T,c.(1819-1821)aaC>aaT,5,95,0,49
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SELL,6402,1,169676582,169676582,Nonsense_Mutation,SNP,G,A,c.(520-522)Cag>Tag,5,303,0,113
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SUCO,51430,1,172501842,172501842,5'Flank,SNP,A,T,,112,629,0,196
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CDC73,79577,1,193205428,193205428,Silent,SNP,G,A,c.(1357-1359)caG>caA,7,586,0,224
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PLXNA2,5362,1,208276555,208276555,Missense_Mutation,SNP,G,A,c.(1543-1545)aCg>aTg,5,229,0,100
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,IRF6,3664,1,209974725,209974725,Missense_Mutation,SNP,G,A,c.(34-36)Ccc>Tcc,4,95,0,55
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF678,339500,1,227843184,227843184,Silent,SNP,G,C,c.(1231-1233)ggG>ggC,5,327,0,113
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,DISC1,27185,1,231830167,231830167,Silent,SNP,G,A,c.(661-663)ggG>ggA,7,710,0,345
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,KIF26B,55083,1,245848742,245848742,Silent,SNP,C,T,c.(2455-2457)tgC>tgT,4,85,0,55
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,TMEM214,54867,2,27260716,27260716,Intron,SNP,G,A,,9,614,0,286
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MPV17,4358,2,27535446,27535446,Missense_Mutation,SNP,G,A,c.(289-291)gCc>gTc,7,433,0,325
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ALK,238,2,29416230,29416230,Missense_Mutation,SNP,G,A,c.(4723-4725)Cgt>Tgt,7,514,0,287
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,DHX57,90957,2,39088439,39088439,Silent,SNP,G,A,c.(1111-1113)ctC>ctT,6,282,0,106
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,FSHR,2492,2,49381539,49381539,Silent,SNP,G,C,c.(16-18)gtC>gtG,85,469,0,226
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,EML6,400954,2,55122149,55122149,Missense_Mutation,SNP,C,T,c.(2839-2841)tCg>tTg,5,223,0,88
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ALMS1,7840,2,73651667,73651667,Missense_Mutation,SNP,C,T,c.(874-876)Cgc>Tgc,4,87,0,36
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,RTKN,6242,2,74657086,74657086,Silent,SNP,G,A,c.(472-474)ggC>ggT,6,604,0,258
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MAP3K19,80122,2,135741256,135741256,Missense_Mutation,SNP,G,A,c.(3211-3213)gCc>gTc,3,24,0,11
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,THSD7B,80731,2,138169326,138169326,Missense_Mutation,SNP,G,A,c.(2842-2844)cGa>cAa,7,462,0,211
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,LRP1B,53353,2,141116462,141116462,Missense_Mutation,SNP,A,G,c.(11185-11187)Tgc>Cgc,44,271,0,113
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MMADHC,27249,2,150428756,150428756,Intron,SNP,A,G,,6,240,0,61
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,GCG,2641,2,163003909,163003909,Missense_Mutation,SNP,G,A,c.(208-210)Cgt>Tgt,6,257,0,72
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,XIRP2,129446,2,168105983,168105983,Missense_Mutation,SNP,A,C,c.(8080-8082)gAg>gCg,14,444,0,174
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CHRNA1,1134,2,175613322,175613322,Nonsense_Mutation,SNP,G,A,c.(1303-1305)Cag>Tag,4,84,0,57
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,KIAA1715,80856,2,176812409,176812409,Nonsense_Mutation,SNP,G,A,c.(505-507)Cga>Tga,4,96,0,34
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,TRAK2,66008,2,202257767,202257767,Silent,SNP,C,T,c.(976-978)ctG>ctA,4,115,0,34
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ICA1L,130026,2,203684515,203684515,Missense_Mutation,SNP,C,T,c.(466-468)cGc>cAc,6,480,0,208
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CCDC108,255101,2,219868827,219868827,Missense_Mutation,SNP,T,C,c.(5401-5403)gAg>gGg,7,475,0,210
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,HDAC4,9759,2,240048398,240048398,Intron,SNP,T,A,,69,285,0,201
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,AC079612.1,0,2,240500174,240500174,Missense_Mutation,SNP,G,A,c.(55-57)Gca>Aca,5,297,0,179
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,AC079612.1,0,2,240500512,240500512,Silent,SNP,G,A,c.(391-393)ctG>ctA,6,315,0,179
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,RNPEPL1,57140,2,241516360,241516360,Missense_Mutation,SNP,G,A,c.(1144-1146)Gac>Aac,5,230,0,128
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,AGXT,189,2,241816953,241816953,Splice_Site,SNP,G,A,c.e9-1,4,80,0,65
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,THAP4,51078,2,242573219,242573219,Missense_Mutation,SNP,G,A,c.(352-354)gCc>gTc,5,264,0,156
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,IL5RA,3568,3,3133990,3133990,Silent,SNP,G,A,c.(910-912)taC>taT,5,275,0,116
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ARL8B,55207,3,5212257,5212257,Missense_Mutation,SNP,G,A,c.(193-195)Gtc>Atc,4,156,0,80
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,TRAK1,22906,3,42242469,42242469,Silent,SNP,C,T,c.(1348-1350)taC>taT,6,540,0,293
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,TRAK1,22906,3,42251712,42251712,Intron,SNP,G,A,,4,11,0,9
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZKSCAN7,55888,3,44598743,44598743,Silent,SNP,G,A,c.(202-204)ccG>ccA,9,710,1,340
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SMARCC1,6599,3,47651736,47651736,Nonsense_Mutation,SNP,G,A,c.(2863-2865)Cga>Tga,8,616,1,302
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,RFT1,91869,3,53133487,53133487,Missense_Mutation,SNP,C,T,c.(1117-1119)cGt>cAt,8,440,0,224
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CACNA1D,776,3,53834425,53834425,Intron,SNP,A,G,,24,555,0,239
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MAGI1,9223,3,65365078,65365078,Silent,SNP,G,A,c.(2851-2853)atC>atT,9,799,0,313
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,GABRR3,200959,3,97705760,97705760,RNA,SNP,C,T,,7,265,0,108
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,RP11-723O4.6,0,3,128664255,128664255,Silent,SNP,C,T,c.(553-555)gcG>gcA,31,163,0,131
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,GPR149,344758,3,154146761,154146761,Missense_Mutation,SNP,C,A,c.(643-645)cGa>cTa,65,229,0,142
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,LRRC31,79782,3,169557829,169557829,Missense_Mutation,SNP,C,T,c.(1600-1602)Gaa>Aaa,5,166,0,81
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF595,152687,4,86585,86585,3'UTR,SNP,A,G,,6,296,0,114
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF595,152687,4,86588,86588,3'UTR,SNP,T,C,,6,296,0,111
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,HAUS3,79441,4,2242426,2242426,Missense_Mutation,SNP,G,A,c.(247-249)aCg>aTg,7,428,0,135
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZFYVE28,57732,4,2272450,2272450,3'UTR,SNP,C,T,,5,179,0,101
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,JAKMIP1,152789,4,6081919,6081919,Missense_Mutation,SNP,C,T,c.(1222-1224)Gtc>Atc,6,116,0,50
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,FAM200B,285550,4,15689589,15689589,Missense_Mutation,SNP,G,A,c.(988-990)cGt>cAt,5,306,0,102
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,FAM184B,27146,4,17711210,17711210,Missense_Mutation,SNP,G,A,c.(199-201)Cgg>Tgg,5,109,0,77
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,KIAA1239,0,4,37448364,37448364,Missense_Mutation,SNP,G,A,c.(4753-4755)cGa>cAa,5,309,0,125
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CHRNA9,55584,4,40356163,40356163,Missense_Mutation,SNP,G,A,c.(1066-1068)Gaa>Aaa,5,196,0,114
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ART3,419,4,77020292,77020292,Intron,SNP,A,T,,4,61,0,36
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,Unknown,0,4,88814496,88814496,IGR,SNP,C,T,,6,370,0,171
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,NDST4,64579,4,115763834,115763834,Intron,SNP,G,A,,5,26,0,11
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PET112,0,4,152622658,152622658,Silent,SNP,T,C,c.(895-897)gaA>gaG,3,43,0,23
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,C4orf47,441054,4,186353286,186353286,Missense_Mutation,SNP,G,A,c.(250-252)cGg>cAg,6,205,0,151
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,FBXL7,23194,5,15928151,15928151,Missense_Mutation,SNP,A,C,c.(280-282)Acc>Ccc,9,60,1,36
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,RAB3C,115827,5,58021937,58021937,Missense_Mutation,SNP,G,A,c.(361-363)Gta>Ata,4,148,0,56
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MAST4,375449,5,66460407,66460407,Silent,SNP,G,A,c.(5398-5400)ccG>ccA,5,326,0,146
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CSNK1G3,1456,5,122930822,122930822,Silent,SNP,G,A,c.(1174-1176)tcG>tcA,7,404,0,131
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PCDHGA6,56109,5,140755470,140755470,Missense_Mutation,SNP,G,A,c.(1819-1821)cGc>cAc,8,528,1,312
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CSF1R,1436,5,149435890,149435890,Silent,SNP,G,A,c.(2332-2334)gaC>gaT,5,198,0,88
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ADAMTS2,9509,5,178554982,178554982,Silent,SNP,C,T,c.(2593-2595)ccG>ccA,44,251,0,193
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,TRIM41,90933,5,180660729,180660729,Silent,SNP,G,A,c.(1255-1257)agG>agA,42,233,0,118
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,GCM2,9247,6,10876693,10876693,Silent,SNP,G,A,c.(439-441)aaC>aaT,8,618,1,309
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,GMPR,2766,6,16286054,16286054,Missense_Mutation,SNP,G,A,c.(685-687)Gcc>Acc,6,401,0,204
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,WDR46,9277,6,33256236,33256236,Silent,SNP,A,T,c.(370-372)tcT>tcA,6,318,0,116
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,DNAH8,1769,6,38729555,38729555,Silent,SNP,G,A,c.(940-942)acG>acA,5,153,0,58
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,RCAN2,10231,6,46190910,46190910,Missense_Mutation,SNP,G,A,c.(562-564)Cgt>Tgt,5,256,0,103
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,KPNA5,3841,6,117043382,117043382,Missense_Mutation,SNP,G,A,c.(850-852)Gat>Aat,5,265,0,113
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,TMEM200A,114801,6,130762138,130762138,Missense_Mutation,SNP,G,A,c.(571-573)Gaa>Aaa,6,162,0,66
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,AHI1,54806,6,135819083,135819083,5'Flank,SNP,G,A,,4,39,0,11
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,REPS1,85021,6,139237099,139237099,Missense_Mutation,SNP,G,A,c.(1615-1617)aCg>aTg,7,563,1,242
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,FNDC1,84624,6,159659661,159659661,Missense_Mutation,SNP,C,T,c.(4144-4146)Cgg>Tgg,5,165,0,67
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SDK1,221935,7,4169699,4169699,Missense_Mutation,SNP,C,T,c.(4099-4101)Ccc>Tcc,10,209,0,101
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,NPSR1,387129,7,34867112,34867112,Missense_Mutation,SNP,G,A,c.(577-579)gGt>gAt,7,612,0,254
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF727,442319,7,63538330,63538330,Missense_Mutation,SNP,A,T,c.(901-903)aaA>aaT,6,280,1,107
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF727,442319,7,63538345,63538345,Silent,SNP,T,C,c.(916-918)caT>caC,6,255,1,108
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,WBSCR22,114049,7,73112209,73112209,Missense_Mutation,SNP,G,A,c.(838-840)cGc>cAc,4,123,1,57
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CACNA2D1,781,7,81679952,81679952,Intron,SNP,G,A,,5,220,0,61
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PCLO,27445,7,82763660,82763660,Missense_Mutation,SNP,C,T,c.(3205-3207)gGt>gAt,7,304,0,142
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ADAM22,53616,7,87564305,87564305,Intron,SNP,C,A,,10,173,0,57
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MTERF,0,7,91509369,91509369,Splice_Site,SNP,C,T,c.(28-30)aGc>aAc,5,320,0,98
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ERVW-1,30816,7,92099220,92099220,Missense_Mutation,SNP,C,T,c.(475-477)cGt>cAt,6,264,1,115
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,GS1-259H13.10,0,7,99205409,99205409,3'UTR,SNP,G,A,,4,156,0,89
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,LMOD2,442721,7,123296083,123296083,Silent,SNP,C,T,c.(64-66)ctC>ctT,6,361,0,187
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,RP11-286H14.4,0,7,128767280,128767280,RNA,SNP,C,T,,6,303,0,224
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,RP11-1220K2.2,0,7,141816745,141816745,Silent,SNP,C,T,c.(70-72)atC>atT,7,304,0,103
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,NOS3,4846,7,150700345,150700345,Missense_Mutation,SNP,T,C,c.(1858-1860)gTt>gCt,5,255,0,102
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,STMN4,81551,8,27098630,27098630,Nonsense_Mutation,SNP,G,A,c.(259-261)Cga>Tga,5,165,0,101
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CHD7,55636,8,61734401,61734401,Missense_Mutation,SNP,C,T,c.(2749-2751)aCg>aTg,5,291,0,100
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CHD7,55636,8,61743070,61743070,Missense_Mutation,SNP,G,A,c.(3712-3714)Gta>Ata,5,243,0,96
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CPNE3,8895,8,87541337,87541337,Silent,SNP,A,G,c.(295-297)gaA>gaG,11,101,0,46
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,FAM92A1,137392,8,94736750,94736750,Intron,SNP,G,A,,6,263,0,74
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,RGS22,26166,8,101014533,101014533,Missense_Mutation,SNP,C,T,c.(2686-2688)cGa>cAa,5,251,0,90
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PLEC,5339,8,144995578,144995578,Missense_Mutation,SNP,C,T,c.(8821-8823)cGc>cAc,5,153,0,100
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SLC52A2,79581,8,145584546,145584546,Silent,SNP,G,A,c.(1207-1209)ccG>ccA,7,460,0,200
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,TONSL,4796,8,145668653,145668653,Silent,SNP,G,A,c.(316-318)Ctg>Ttg,5,202,0,110
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PTPRD,5789,9,8436601,8436601,Silent,SNP,C,T,c.(4075-4077)caG>caA,6,314,0,101
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,RRAGA,10670,9,19049888,19049888,Silent,SNP,G,A,c.(229-231)caG>caA,8,507,0,165
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,HAUS6,54801,9,19060047,19060047,Intron,SNP,G,A,,11,40,0,30
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,NFX1,4799,9,33290564,33290564,5'UTR,SNP,G,A,,6,349,1,107
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,FAM205A,259308,9,34723439,34723439,Silent,SNP,C,T,c.(3796-3798)acG>acA,5,300,0,155
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF510,22869,9,99521281,99521281,Missense_Mutation,SNP,G,A,c.(1831-1833)Cgg>Tgg,5,213,0,88
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF462,58499,9,109691051,109691051,Missense_Mutation,SNP,G,A,c.(4858-4860)Gag>Aag,6,355,0,148
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,BRINP1,1620,9,121971070,121971070,Missense_Mutation,SNP,G,A,c.(1072-1074)Cgc>Tgc,6,612,1,315
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,DAB2IP,153090,9,124535075,124535075,Silent,SNP,G,A,c.(2266-2268)acG>acA,6,178,0,84
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,OBP2B,29989,9,136083325,136083325,Intron,SNP,G,A,,6,222,0,133
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CLIC3,9022,9,139889939,139889939,Missense_Mutation,SNP,G,A,c.(223-225)aCg>aTg,4,141,0,70
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,C10orf10,11067,10,45466988,45466988,5'UTR,SNP,G,A,,7,377,0,158
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,DNA2,1763,10,70231771,70231771,5'Flank,SNP,G,A,,5,246,0,130
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,NDST2,8509,10,75567164,75567164,Missense_Mutation,SNP,C,T,c.(982-984)cGc>cAc,4,124,0,96
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,GRID1,2894,10,87487632,87487632,Missense_Mutation,SNP,T,A,c.(1513-1515)Atc>Ttc,31,150,0,133
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CTBP2,1488,10,126715558,126715558,Intron,SNP,G,A,,6,293,0,166
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,TCERG1L,256536,10,133058643,133058643,Silent,SNP,G,A,c.(733-735)gcC>gcT,4,121,0,65
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,HRAS,3265,11,532735,532735,Silent,SNP,G,A,c.(469-471)taC>taT,6,439,0,282
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,OR52M1,119772,11,4567216,4567216,Nonsense_Mutation,SNP,C,T,c.(796-798)Cga>Tga,6,279,0,96
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CTR9,9646,11,10794821,10794821,Splice_Site,SNP,G,A,c.e21+1,6,263,0,160
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,E2F8,79733,11,19247057,19247057,Missense_Mutation,SNP,G,A,c.(2131-2133)cCt>cTt,7,558,0,226
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,OR5R1,219479,11,56184852,56184852,Missense_Mutation,SNP,T,G,c.(856-858)aAc>aCc,32,183,1,62
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,OR5B21,219968,11,58275008,58275008,Missense_Mutation,SNP,G,A,c.(571-573)Cgc>Tgc,6,352,1,157
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MPEG1,219972,11,58978266,58978266,Silent,SNP,C,T,c.(2071-2073)gaG>gaA,5,264,0,89
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,OR5A1,219982,11,59211339,59211339,Nonsense_Mutation,SNP,C,A,c.(697-699)tCa>tAa,4,107,0,83
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNHIT2,741,11,64884230,64884230,Missense_Mutation,SNP,G,A,c.(895-897)cCg>cTg,5,173,1,89
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,DPF2,5977,11,65107927,65107927,Missense_Mutation,SNP,G,A,c.(103-105)cGc>cAc,5,304,0,164
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SHANK2,22941,11,70333740,70333740,Silent,SNP,G,A,c.(1519-1521)gaC>gaT,5,254,0,176
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,POLD3,10714,11,74329822,74329822,Silent,SNP,G,A,c.(631-633)acG>acA,6,121,0,84
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,GAB2,9846,11,77931418,77931418,Missense_Mutation,SNP,C,T,c.(1834-1836)Gtt>Att,5,209,0,91
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,GRM5,2915,11,88658984,88658984,Intron,SNP,T,G,,8,250,0,80
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,NAALAD2,10003,11,89914845,89914845,Missense_Mutation,SNP,G,A,c.(1915-1917)cGa>cAa,6,229,0,80
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,IL10RA,3587,11,117869968,117869968,Missense_Mutation,SNP,C,T,c.(1348-1350)aCc>aTc,5,226,1,145
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,TECTA,7007,11,121028877,121028877,Missense_Mutation,SNP,G,A,c.(4633-4635)Gtc>Atc,11,411,0,201
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PIANP,196500,12,6806857,6806857,Missense_Mutation,SNP,G,A,c.(118-120)cCa>cTa,5,196,0,129
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SLC48A1,55652,12,48174514,48174514,3'UTR,SNP,A,T,,6,25,0,23
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SP7,121340,12,53723158,53723158,Missense_Mutation,SNP,G,A,c.(67-69)gCg>gTg,5,154,0,167
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ITGA7,3679,12,56081888,56081888,Intron,SNP,G,A,,7,311,0,295
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SARNP,84324,12,56197408,56197408,Intron,SNP,C,T,,4,74,0,42
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CDK2,1017,12,56364835,56364835,Missense_Mutation,SNP,G,A,c.(595-597)cGc>cAc,8,450,0,206
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,NABP2,79035,12,56619241,56619241,Nonsense_Mutation,SNP,G,A,c.(163-165)tGg>tAg,6,275,0,111
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,LRP1,4035,12,57569740,57569740,Missense_Mutation,SNP,G,A,c.(3841-3843)cGc>cAc,6,469,0,209
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ARHGEF25,115557,12,58009788,58009788,Missense_Mutation,SNP,G,A,c.(1408-1410)Gac>Aac,4,72,0,54
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,AVIL,10677,12,58197057,58197057,Silent,SNP,G,A,c.(1933-1935)gaC>gaT,6,208,0,90
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PTPRB,5787,12,70988418,70988418,Nonsense_Mutation,SNP,G,A,c.(691-693)Cga>Tga,7,525,0,228
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CEP290,80184,12,88443054,88443054,Silent,SNP,T,C,c.(7345-7347)tcA>tcG,7,324,0,91
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,STX2,2054,12,131283121,131283121,Silent,SNP,G,A,c.(733-735)caC>caT,5,229,0,80
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,B3GALTL,145173,13,31848758,31848758,Missense_Mutation,SNP,C,T,c.(772-774)cCg>cTg,6,437,0,221
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,KBTBD7,84078,13,41767845,41767845,Silent,SNP,G,A,c.(547-549)ttC>ttT,9,829,0,272
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,RCBTB1,55213,13,50123621,50123621,Missense_Mutation,SNP,C,T,c.(1018-1020)Gcc>Acc,5,115,0,84
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ATP7B,540,13,52511718,52511718,Missense_Mutation,SNP,C,T,c.(3796-3798)gGg>gAg,119,514,0,367
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SLC22A17,51310,14,23818613,23818613,Silent,SNP,G,A,c.(394-396)Ctg>Ttg,5,162,0,95
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CTAGE5,4253,14,39816973,39816973,Missense_Mutation,SNP,G,A,c.(2011-2013)Ggt>Agt,5,241,0,82
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,C14orf105,55195,14,57948290,57948290,Missense_Mutation,SNP,C,T,c.(481-483)cGt>cAt,5,168,0,60
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZFYVE26,23503,14,68260450,68260450,Missense_Mutation,SNP,G,A,c.(2428-2430)Cgg>Tgg,6,382,0,212
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ELMSAN1,91748,14,74205373,74205373,Missense_Mutation,SNP,G,A,c.(1339-1341)Cgg>Tgg,4,145,0,56
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ANGEL1,23357,14,77275969,77275969,Nonsense_Mutation,SNP,G,A,c.(82-84)Cga>Tga,5,137,0,64
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SPTLC2,9517,14,77978656,77978656,Missense_Mutation,SNP,C,T,c.(1660-1662)Gag>Aag,8,500,0,301
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,NRXN3,9369,14,79423642,79423642,Missense_Mutation,SNP,C,T,c.(1213-1215)aCc>aTc,5,273,0,110
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,STON2,85439,14,81743644,81743644,Missense_Mutation,SNP,G,A,c.(2011-2013)Cgg>Tgg,7,257,0,122
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SERPINA11,256394,14,94912858,94912858,Missense_Mutation,SNP,G,A,c.(727-729)Ccc>Tcc,6,290,0,147
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,THBS1,7057,15,39882795,39882795,Missense_Mutation,SNP,G,A,c.(2224-2226)Gat>Aat,5,246,0,80
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CHAC1,79094,15,41247759,41247759,Silent,SNP,C,T,c.(580-582)taC>taT,5,256,0,173
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SPTBN5,51332,15,42159312,42159312,Missense_Mutation,SNP,G,A,c.(6325-6327)Cgt>Tgt,5,132,0,69
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,VPS13C,54832,15,62214691,62214691,Nonsense_Mutation,SNP,G,A,c.(6880-6882)Cga>Tga,6,320,0,102
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MAP2K5,5607,15,67995751,67995751,Intron,SNP,G,A,,6,264,0,115
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,RPLP1,6176,15,69751165,69751165,IGR,SNP,A,G,,4,98,0,24
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MYO9A,4649,15,72189925,72189925,Missense_Mutation,SNP,C,T,c.(4918-4920)cGc>cAc,21,116,0,64
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MAN2A2,4122,15,91456555,91456555,Silent,SNP,C,T,c.(2635-2637)taC>taT,5,192,0,111
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SSTR5,6755,16,1129482,1129482,Missense_Mutation,SNP,C,T,c.(613-615)aCg>aTg,4,93,0,50
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,UNKL,64718,16,1444421,1444421,Intron,SNP,C,T,,5,165,0,127
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,IFT140,9742,16,1634276,1634276,Missense_Mutation,SNP,G,A,c.(1300-1302)aCg>aTg,6,424,0,257
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PKD1,5310,16,2140814,2140814,Intron,SNP,G,A,,8,671,0,419
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PKD1,5310,16,2161689,2161689,Missense_Mutation,SNP,G,A,c.(3478-3480)aCg>aTg,7,583,0,447
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,USP7,7874,16,9004626,9004626,Silent,SNP,G,A,c.(1135-1137)taC>taT,6,459,0,145
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,KIAA0430,9665,16,15729591,15729591,Silent,SNP,G,A,c.(751-753)tgC>tgT,5,233,0,91
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ABCC1,4363,16,16225647,16225647,Splice_Site,SNP,C,T,c.(3820-3822)gCg>gTg,5,116,0,70
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ACSM2B,348158,16,20554240,20554240,Missense_Mutation,SNP,C,T,c.(1504-1506)gGa>gAa,5,304,0,162
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF629,23361,16,30794478,30794478,Missense_Mutation,SNP,G,A,c.(1171-1173)Cgg>Tgg,6,393,0,215
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SETD1A,9739,16,30975533,30975533,Missense_Mutation,SNP,G,A,c.(757-759)cGa>cAa,7,411,0,266
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MYLK3,91807,16,46764539,46764539,Missense_Mutation,SNP,C,T,c.(1534-1536)Ggt>Agt,5,242,0,117
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MYLK3,91807,16,46771821,46771821,Missense_Mutation,SNP,G,A,c.(802-804)cCc>cTc,5,250,0,146
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MMP15,4324,16,58074583,58074583,Silent,SNP,T,C,c.(889-891)cgT>cgC,7,455,0,283
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CES2,8824,16,66975456,66975456,Silent,SNP,G,A,c.(1153-1155)agG>agA,5,234,0,131
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ATP6V0D1,9114,16,67478491,67478491,Missense_Mutation,SNP,C,T,c.(421-423)Gtg>Atg,5,181,0,97
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF23,7571,16,71488028,71488028,5'UTR,SNP,G,A,,5,203,0,137
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PIEZO1,9780,16,88789273,88789273,Missense_Mutation,SNP,C,T,c.(4639-4641)cGc>cAc,4,121,0,109
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,TP53,7157,17,7577124,7577124,Missense_Mutation,SNP,C,T,c.(814-816)Gtg>Atg,32,381,0,329
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,USP43,124739,17,9559768,9559768,Missense_Mutation,SNP,G,A,c.(553-555)Gac>Aac,5,202,0,134
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,GAS7,8522,17,10101655,10101655,Missense_Mutation,SNP,C,T,c.(52-54)gGc>gAc,6,270,0,223
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,TVP23B,51030,17,18684604,18684604,5'UTR,SNP,G,A,,5,352,0,118
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,AP2B1,163,17,33968915,33968915,Missense_Mutation,SNP,C,T,c.(1456-1458)aCt>aTt,5,127,0,65
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,KRTAP4-8,728224,17,39254217,39254217,Silent,SNP,G,A,c.(118-120)taC>taT,6,480,0,217
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,KLHL10,317719,17,39998250,39998250,Missense_Mutation,SNP,A,T,c.(370-372)Atc>Ttc,36,172,0,186
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PRR11,55771,17,57274954,57274954,Missense_Mutation,SNP,G,A,c.(907-909)Gat>Aat,6,172,0,110
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CEP112,201134,17,63898359,63898359,Missense_Mutation,SNP,G,A,c.(2074-2076)Cgg>Tgg,7,534,0,199
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ABCA5,23461,17,67247905,67247905,Missense_Mutation,SNP,C,A,c.(4516-4518)atG>atT,5,235,0,106
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,RNF157,114804,17,74208477,74208477,Missense_Mutation,SNP,C,T,c.(175-177)Gat>Aat,5,171,0,93
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MYO5B,4645,18,47581709,47581709,Missense_Mutation,SNP,G,A,c.(67-69)Cgc>Tgc,7,492,1,206
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ATP8B1,5205,18,55315856,55315856,Missense_Mutation,SNP,G,A,c.(3619-3621)tCg>tTg,6,559,0,261
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MADCAM1,8174,19,501783,501783,Missense_Mutation,SNP,C,T,c.(781-783)tCc>tTc,5,137,0,99
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ABCA7,10347,19,1044729,1044729,Missense_Mutation,SNP,G,A,c.(1201-1203)Ggc>Agc,5,128,0,90
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,NDUFS7,374291,19,1393407,1393407,Intron,SNP,G,A,,6,375,0,240
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,APC2,10297,19,1468062,1468062,Missense_Mutation,SNP,G,A,c.(4762-4764)Gag>Aag,4,157,0,160
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ATP8B3,148229,19,1792020,1792020,Missense_Mutation,SNP,G,A,c.(2170-2172)Cgg>Tgg,29,154,0,158
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SEMA6B,10501,19,4544383,4544383,Missense_Mutation,SNP,G,A,c.(1897-1899)Cgc>Tgc,6,155,0,133
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PTPRS,5802,19,5231460,5231460,Silent,SNP,G,A,c.(2014-2016)aaC>aaT,6,506,0,259
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,GTF2F1,2962,19,6381478,6381478,Nonsense_Mutation,SNP,G,A,c.(910-912)Cag>Tag,4,65,0,59
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CACNA1A,773,19,13319775,13319775,Missense_Mutation,SNP,G,A,c.(6574-6576)tCg>tTg,5,323,0,230
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CRLF1,9244,19,18705179,18705179,Missense_Mutation,SNP,G,A,c.(1090-1092)Cgg>Tgg,6,185,0,100
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,NDUFA13,51079,19,19626080,19626080,5'Flank,SNP,C,T,,6,338,0,133
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF737,100129842,19,20728086,20728086,Missense_Mutation,SNP,C,G,c.(922-924)aGc>aCc,7,441,0,223
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF99,7652,19,22936997,22936997,IGR,SNP,C,T,,4,92,0,55
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF724P,440519,19,23405373,23405373,Silent,SNP,T,G,c.(1672-1674)ggA>ggC,6,411,0,205
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF724P,440519,19,23405378,23405378,Missense_Mutation,SNP,T,C,c.(1669-1671)Act>Gct,6,401,0,208
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF254,9534,19,24309362,24309362,Missense_Mutation,SNP,G,A,c.(559-561)cGt>cAt,5,101,0,23
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF254,9534,19,24310254,24310254,Silent,SNP,C,T,c.(1450-1452)caC>caT,8,573,0,200
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,VSTM2B,342865,19,30020798,30020798,Missense_Mutation,SNP,G,A,c.(370-372)Gtg>Atg,7,687,0,436
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PLEKHF1,79156,19,30165019,30165019,Silent,SNP,G,A,c.(271-273)ccG>ccA,6,408,0,193
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,LRFN1,57622,19,39805539,39805539,Silent,SNP,G,A,c.(436-438)aaC>aaT,5,247,0,148
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,FCGBP,8857,19,40366347,40366347,Silent,SNP,C,A,c.(13885-13887)ggG>ggT,26,567,0,505
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,DMRTC2,63946,19,42351633,42351633,Missense_Mutation,SNP,G,A,c.(136-138)cGc>cAc,5,245,0,161
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SRRM5,100170229,19,44117553,44117553,Missense_Mutation,SNP,G,A,c.(1279-1281)cGa>cAa,8,587,0,371
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MYPOP,339344,19,46394169,46394169,Silent,SNP,G,A,c.(910-912)gaC>gaT,3,2,0,12
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,LIG1,3978,19,48646816,48646816,Missense_Mutation,SNP,C,T,c.(898-900)Gag>Aag,7,336,0,170
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,BCAT2,587,19,49300490,49300490,Missense_Mutation,SNP,C,T,c.(796-798)Gga>Aga,5,290,0,193
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,HRC,3270,19,49658323,49658323,Missense_Mutation,SNP,G,A,c.(172-174)Cgc>Tgc,7,391,0,194
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PRR12,57479,19,50105000,50105000,Missense_Mutation,SNP,C,T,c.(4597-4599)cCg>cTg,5,297,0,203
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,AP2A1,160,19,50285914,50285914,Missense_Mutation,SNP,G,A,c.(406-408)Gcc>Acc,5,285,0,159
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF701,55762,19,53075587,53075587,Silent,SNP,T,C,c.(91-93)ggT>ggC,7,113,0,68
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,PRPF31,26121,19,54631736,54631736,Missense_Mutation,SNP,G,A,c.(1129-1131)cGt>cAt,6,394,0,241
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,FAM71E2,284418,19,55870870,55870870,Missense_Mutation,SNP,G,A,c.(1366-1368)Cct>Tct,5,239,0,187
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SBK3,100130827,19,56052376,56052376,Missense_Mutation,SNP,C,T,c.(916-918)Gac>Aac,4,104,0,75
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF135,7694,19,58579628,58579628,Silent,SNP,G,A,c.(1774-1776)tcG>tcA,6,270,0,159
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,DTD1,92675,20,18576707,18576707,Silent,SNP,G,A,c.(190-192)tcG>tcA,7,272,0,177
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,GDAP1L1,78997,20,42885835,42885835,Missense_Mutation,SNP,C,T,c.(223-225)Cgg>Tgg,5,182,0,105
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CD40,958,20,44757019,44757019,Intron,SNP,G,A,,8,427,0,172
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZNF831,128611,20,57766372,57766372,Missense_Mutation,SNP,C,T,c.(298-300)Cct>Tct,28,124,0,100
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,HELZ2,85441,20,62196750,62196750,Missense_Mutation,SNP,G,A,c.(3424-3426)gCg>gTg,5,279,0,198
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,ZBTB46,140685,20,62378539,62378539,Missense_Mutation,SNP,G,A,c.(1513-1515)gCt>gTt,5,246,0,156
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CECR1,51816,22,17672670,17672670,Missense_Mutation,SNP,C,T,c.(784-786)Gaa>Aaa,4,102,0,51
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SUN2,25777,22,39134251,39134251,Missense_Mutation,SNP,T,C,c.(1966-1968)cAg>cGg,6,146,0,101
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,APOBEC3F,200316,22,39441500,39441500,Silent,SNP,C,T,c.(517-519)ttC>ttT,8,224,0,128
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MKL1,57591,22,40825552,40825552,Intron,SNP,C,T,,6,404,0,254
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,FRMPD4,9758,X,12724947,12724947,Silent,SNP,C,T,c.(1198-1200)ctC>ctT,4,90,0,36
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,SH3KBP1,30011,X,19626106,19626106,Missense_Mutation,SNP,G,A,c.(955-957)Ccc>Tcc,5,146,0,62
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,FAM47A,158724,X,34149344,34149344,Missense_Mutation,SNP,C,T,c.(1051-1053)cGc>cAc,4,128,0,59
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,CCDC22,28952,X,49105109,49105109,Missense_Mutation,SNP,C,T,c.(1345-1347)Cgg>Tgg,47,91,0,79
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,MTMR8,55613,X,63551624,63551624,Missense_Mutation,SNP,C,T,c.(1165-1167)Gat>Aat,4,109,0,67
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,BRWD3,254065,X,79978253,79978253,Missense_Mutation,SNP,G,A,c.(1684-1686)Cgt>Tgt,5,243,0,100
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,NXF3,56000,X,102334568,102334568,Missense_Mutation,SNP,C,T,c.(1162-1164)aGc>aAc,27,66,0,59
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,COL16A1,1307,1,32157190,32157192,Intron,DEL,ACA,-,,22,164,,
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,GLUD1,2746,10,88813265,88813266,Intron,INS,-,T,,17,53,,
RP-1532_PCProject_0225_T2_v4_Exome_OnPrem,Unknown,0,11,89515317,89515318,IGR,INS,-,T,,48,160,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KLHL17,339451,1,897353,897353,Missense_Mutation,SNP,G,A,c.(637-639)Gcc>Acc,6,445,1,429
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KLHL17,339451,1,899779,899779,Silent,SNP,G,A,c.(1567-1569)gcG>gcA,7,345,1,221
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ATAD3A,55210,1,1451437,1451437,Missense_Mutation,SNP,C,T,c.(250-252)aCg>aTg,6,402,0,316
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TMEM240,339453,1,1471000,1471000,Silent,SNP,G,A,c.(340-342)gcC>gcT,22,317,0,346
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MIB2,142678,1,1563886,1563886,Silent,SNP,C,T,c.(2158-2160)aaC>aaT,25,112,0,130
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,Unknown,0,1,1896346,1896346,IGR,SNP,G,A,,39,348,0,375
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PRKCZ,5590,1,2103779,2103779,Missense_Mutation,SNP,G,A,c.(688-690)Gga>Aga,4,151,0,120
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MMEL1,79258,1,2522487,2522487,Missense_Mutation,SNP,G,A,c.(2281-2283)aCg>aTg,7,113,0,76
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PRDM16,63976,1,3331154,3331154,Silent,SNP,C,T,c.(2632-2634)ccC>ccT,9,176,0,122
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,AJAP1,55966,1,4832386,4832386,Missense_Mutation,SNP,A,C,c.(964-966)Acc>Ccc,11,237,0,252
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NPHP4,261734,1,6046302,6046302,Silent,SNP,G,T,c.(46-48)ccC>ccA,20,125,0,182
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CHD5,26038,1,6202285,6202285,Missense_Mutation,SNP,T,C,c.(2338-2340)tAc>tGc,25,108,0,154
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C1orf127,148345,1,11018803,11018803,Missense_Mutation,SNP,G,A,c.(76-78)Cgg>Tgg,4,105,0,116
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SPEN,23013,1,16255775,16255775,Missense_Mutation,SNP,G,A,c.(3040-3042)Gtg>Atg,28,109,0,148
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARHGEF19,128272,1,16531260,16531260,Missense_Mutation,SNP,C,T,c.(1900-1902)cGg>cAg,12,32,0,35
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PADI4,23569,1,17660989,17660989,Intron,SNP,A,G,,4,44,0,85
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CAPZB,832,1,19670856,19670856,Silent,SNP,G,A,c.(727-729)Ctg>Ttg,8,92,0,110
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TMCO4,255104,1,20073020,20073020,Missense_Mutation,SNP,G,A,c.(685-687)gCg>gTg,7,358,0,267
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HSPG2,3339,1,22201474,22201474,Silent,SNP,G,A,c.(3322-3324)gaC>gaT,76,365,0,378
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TCEA3,6920,1,23720488,23720488,Missense_Mutation,SNP,G,A,c.(703-705)Cgg>Tgg,59,205,0,215
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SEPN1,57190,1,26127565,26127565,Missense_Mutation,SNP,G,A,c.(214-216)gGc>gAc,9,320,0,373
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MTFR1L,56181,1,26147006,26147006,Intron,SNP,T,C,,4,25,0,55
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,AHDC1,27245,1,27876033,27876033,Missense_Mutation,SNP,C,T,c.(2593-2595)cGg>cAg,35,132,0,179
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SESN2,83667,1,28605738,28605738,Missense_Mutation,SNP,C,T,c.(1342-1344)Cgc>Tgc,10,79,0,150
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SNRNP40,9410,1,31734393,31734393,Missense_Mutation,SNP,T,C,c.(1006-1008)cAc>cGc,13,82,0,155
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FABP3,2170,1,31845852,31845852,Missense_Mutation,SNP,C,T,c.(10-12)Gct>Act,25,124,0,133
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BAI2,576,1,32209909,32209909,Silent,SNP,C,T,c.(970-972)acG>acA,43,200,0,244
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SPOCD1,90853,1,32265646,32265646,Missense_Mutation,SNP,C,T,c.(1699-1701)Gac>Aac,5,62,0,114
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PTP4A2,8073,1,32379934,32379934,Intron,SNP,G,C,,5,158,0,196
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TMEM39B,55116,1,32540557,32540557,Nonsense_Mutation,SNP,C,T,c.(10-12)Cga>Tga,14,75,0,115
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RP1-27O5.3,0,1,33001813,33001813,Intron,SNP,G,A,,28,153,0,200
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF362,149076,1,33747302,33747302,Silent,SNP,C,T,c.(796-798)aaC>aaT,88,347,0,364
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZMYM1,79830,1,35578925,35578925,Silent,SNP,C,T,c.(1492-1494)caC>caT,4,16,0,60
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CSF3R,1441,1,36937905,36937905,Missense_Mutation,SNP,G,A,c.(931-933)Cgc>Tgc,5,325,0,364
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MANEAL,149175,1,38265450,38265450,Missense_Mutation,SNP,G,A,c.(949-951)Gcc>Acc,36,99,0,231
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PABPC4,8761,1,40030808,40030808,Silent,SNP,C,T,c.(1213-1215)gcG>gcA,14,57,0,130
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ST3GAL3,6487,1,44395862,44395862,Missense_Mutation,SNP,G,A,c.(1096-1098)cGc>cAc,17,274,0,368
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LRRC41,10489,1,46747019,46747019,Missense_Mutation,SNP,G,A,c.(1534-1536)Cgg>Tgg,5,175,1,181
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NRD1,4898,1,52303217,52303217,Missense_Mutation,SNP,A,G,c.(706-708)Tct>Cct,3,18,0,46
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MROH7,374977,1,55152012,55152012,Missense_Mutation,SNP,G,A,c.(2602-2604)Gcc>Acc,69,183,0,238
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,JAK1,3716,1,65311215,65311215,Missense_Mutation,SNP,G,A,c.(2095-2097)gCc>gTc,4,119,0,176
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C1orf173,0,1,75112430,75112430,Missense_Mutation,SNP,T,C,c.(163-165)aAt>aGt,5,53,0,114
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GTF2B,2959,1,89323161,89323161,Missense_Mutation,SNP,G,A,c.(544-546)gCc>gTc,3,13,0,56
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARHGAP29,9411,1,94649731,94649731,Silent,SNP,G,A,c.(2221-2223)gaC>gaT,4,79,0,134
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DPYD,1806,1,98058935,98058935,Missense_Mutation,SNP,C,T,c.(967-969)Gcc>Acc,4,123,0,188
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CELSR2,1952,1,109804238,109804238,Missense_Mutation,SNP,A,G,c.(4285-4287)Acc>Gcc,5,170,0,142
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SYPL2,284612,1,110019486,110019486,Missense_Mutation,SNP,G,A,c.(343-345)Gcc>Acc,47,266,0,360
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC6A17,388662,1,110714771,110714771,Missense_Mutation,SNP,C,T,c.(376-378)Cgc>Tgc,17,270,0,298
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PTPN22,26191,1,114406895,114406895,Intron,SNP,T,C,,6,129,1,131
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,VANGL1,81839,1,116206696,116206696,Missense_Mutation,SNP,C,T,c.(619-621)Cgc>Tgc,76,271,0,517
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IGSF3,3321,1,117127537,117127537,Missense_Mutation,SNP,T,C,c.(2578-2580)Aac>Gac,6,119,0,139
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RP11-337C18.8,0,1,146650834,146650834,RNA,SNP,T,C,,44,129,0,448
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,OTUD7B,56957,1,149916934,149916934,Missense_Mutation,SNP,C,T,c.(1354-1356)Gcc>Acc,19,78,0,94
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ADAMTSL4,54507,1,150530963,150530963,Silent,SNP,C,T,c.(2395-2397)tgC>tgT,12,321,0,294
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SEMA6C,10500,1,151105571,151105571,Missense_Mutation,SNP,C,T,c.(2182-2184)Gcc>Acc,4,113,1,64
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SEMA6C,10500,1,151105902,151105902,Silent,SNP,G,A,c.(1849-1851)ggC>ggT,25,208,0,202
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PIP5K1A,8394,1,151206961,151206961,Missense_Mutation,SNP,C,T,c.(928-930)Cgt>Tgt,10,64,0,171
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF687,57592,1,151260241,151260241,Missense_Mutation,SNP,C,T,c.(1474-1476)Cgg>Tgg,22,72,0,135
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CELF3,11189,1,151678800,151678800,Silent,SNP,C,T,c.(1024-1026)gcG>gcA,12,109,0,156
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CHRNB2,1141,1,154543934,154543934,Missense_Mutation,SNP,G,A,c.(634-636)cGc>cAc,6,214,0,310
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ASH1L,55870,1,155403218,155403218,Intron,SNP,C,T,,5,207,0,256
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DAP3,7818,1,155701824,155701824,Splice_Site,SNP,G,A,c.(991-993)aaG>aaA,5,201,0,200
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PMF1,11243,1,156206206,156206206,Missense_Mutation,SNP,G,A,c.(502-504)Gtc>Atc,6,236,0,193
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SMG5,23381,1,156230321,156230321,Missense_Mutation,SNP,C,T,c.(2203-2205)cGt>cAt,15,40,0,76
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,INSRR,3645,1,156812959,156812959,Missense_Mutation,SNP,C,T,c.(2962-2964)gGc>gAc,6,265,0,321
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PEAR1,375033,1,156883325,156883325,Intron,SNP,G,A,,12,108,0,157
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ITLN1,55600,1,160846466,160846466,Silent,SNP,T,C,c.(928-930)ctA>ctG,15,38,0,114
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,USP21,27005,1,161135217,161135217,Missense_Mutation,SNP,G,A,c.(1678-1680)Gag>Aag,5,162,0,159
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DDR2,4921,1,162741942,162741942,Missense_Mutation,SNP,A,G,c.(1633-1635)Atg>Gtg,64,233,0,448
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PRRC2C,23215,1,171553101,171553101,Silent,SNP,G,A,c.(7408-7410)caG>caA,6,27,0,114
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TNR,7143,1,175362978,175362978,Missense_Mutation,SNP,C,T,c.(1294-1296)Gag>Aag,6,161,0,209
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BRINP2,57795,1,177242630,177242630,Missense_Mutation,SNP,G,A,c.(676-678)Gag>Aag,9,76,0,134
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LAMC2,3918,1,183201781,183201781,Intron,SNP,G,A,,41,184,0,275
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,Unknown,0,1,200182859,200182859,IGR,SNP,C,T,,6,117,0,142
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CACNA1S,779,1,201035067,201035067,Missense_Mutation,SNP,C,T,c.(2752-2754)Gtg>Atg,25,227,0,269
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CACNA1S,779,1,201035454,201035454,Intron,SNP,G,A,,5,167,0,189
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PKP1,5317,1,201282535,201282535,Missense_Mutation,SNP,G,A,c.(547-549)cGc>cAc,60,496,0,495
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LMOD1,25802,1,201869461,201869461,Missense_Mutation,SNP,C,T,c.(679-681)cGt>cAt,20,136,0,289
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ATP2B4,493,1,203690433,203690433,Missense_Mutation,SNP,C,T,c.(2707-2709)Cgc>Tgc,6,277,0,307
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LAMB3,3914,1,209804029,209804029,Missense_Mutation,SNP,G,A,c.(874-876)Cgc>Tgc,82,308,0,330
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HSD11B1,3290,1,209880123,209880123,Missense_Mutation,SNP,A,C,c.(289-291)Acc>Ccc,7,247,1,331
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TRAF5,7188,1,211526808,211526808,Intron,SNP,G,A,,5,40,0,97
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PTPN14,5784,1,214557311,214557311,Silent,SNP,C,T,c.(1885-1887)acG>acA,31,132,0,123
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,USH2A,7399,1,215813957,215813957,Nonsense_Mutation,SNP,G,A,c.(14911-14913)Cga>Tga,13,206,1,280
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ADCK3,56997,1,227170655,227170655,Missense_Mutation,SNP,C,T,c.(1000-1002)Cgg>Tgg,11,257,0,224
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C1orf35,79169,1,228289066,228289066,Silent,SNP,G,A,c.(640-642)gcC>gcT,34,158,0,230
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GJC2,57165,1,228345674,228345674,Missense_Mutation,SNP,C,T,c.(214-216)gCg>gTg,109,335,0,314
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,OBSCN,84033,1,228399800,228399800,Missense_Mutation,SNP,G,A,c.(316-318)Gcc>Acc,18,342,0,332
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,OBSCN,84033,1,228468098,228468098,Missense_Mutation,SNP,C,T,c.(7882-7884)Cgc>Tgc,5,208,0,176
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,OBSCN,84033,1,228509288,228509288,Missense_Mutation,SNP,C,T,c.(14746-14748)Cgg>Tgg,42,96,1,179
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ACTA1,58,1,229568839,229568839,Silent,SNP,G,A,c.(22-24)acC>acT,56,241,0,335
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SIPA1L2,57568,1,232650124,232650124,Missense_Mutation,SNP,C,T,c.(961-963)cGc>cAc,4,60,0,123
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FMN2,56776,1,240370358,240370358,Missense_Mutation,SNP,C,T,c.(2245-2247)aCg>aTg,7,146,0,273
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZBTB18,10472,1,244217659,244217659,Nonsense_Mutation,SNP,C,T,c.(583-585)Cga>Tga,6,403,0,317
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KIF26B,55083,1,245861504,245861504,Missense_Mutation,SNP,G,A,c.(5920-5922)gGc>gAc,74,326,0,322
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF496,84838,1,247492534,247492534,Missense_Mutation,SNP,G,A,c.(346-348)gCg>gTg,9,726,0,662
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,Unknown,0,1,248285632,248285632,IGR,SNP,C,T,,5,88,0,216
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ALLC,55821,2,3751568,3751568,IGR,SNP,A,G,,4,47,0,45
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HPCAL1,3241,2,10560153,10560153,Silent,SNP,C,T,c.(268-270)agC>agT,43,160,0,241
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KLHL29,114818,2,23865848,23865848,Intron,SNP,T,C,,16,126,0,124
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FAM228B,375190,2,24387185,24387185,Missense_Mutation,SNP,C,T,c.(910-912)Cgg>Tgg,8,66,0,108
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ADCY3,109,2,25057670,25057670,Missense_Mutation,SNP,C,T,c.(1798-1800)Gcc>Acc,25,98,0,99
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ADCY3,109,2,25141636,25141636,Missense_Mutation,SNP,C,T,c.(220-222)cGc>cAc,13,347,0,353
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ADCY3,109,2,25141769,25141769,Missense_Mutation,SNP,G,A,c.(88-90)Cgc>Tgc,5,263,0,261
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GAREML,150946,2,26407326,26407326,Silent,SNP,C,T,c.(607-609)ggC>ggT,43,143,0,192
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DRC1,92749,2,26644261,26644261,Missense_Mutation,SNP,C,T,c.(349-351)Cgt>Tgt,4,30,0,72
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CAD,790,2,27457565,27457565,Intron,SNP,C,T,,10,24,0,69
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TRIM54,57159,2,27529358,27529358,Silent,SNP,C,T,c.(1024-1026)gaC>gaT,7,175,0,167
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FNDC4,64838,2,27716342,27716342,Missense_Mutation,SNP,T,A,c.(457-459)gAc>gTc,17,112,0,164
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C2orf16,84226,2,27804356,27804356,Silent,SNP,C,T,c.(4915-4917)cgC>cgT,68,280,1,472
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PLB1,151056,2,28854924,28854924,Missense_Mutation,SNP,T,G,c.(3919-3921)Tac>Gac,10,147,0,184
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PKDCC,91461,2,42280447,42280447,Silent,SNP,C,T,c.(706-708)ggC>ggT,21,75,0,94
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,OXER1,165140,2,42990338,42990338,Nonsense_Mutation,SNP,G,A,c.(982-984)Cga>Tga,32,218,0,343
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PPP1R21,129285,2,48725756,48725756,Missense_Mutation,SNP,A,G,c.(1816-1818)aAt>aGt,18,254,0,380
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RTN4,57142,2,55254391,55254391,Missense_Mutation,SNP,T,A,c.(844-846)Act>Tct,5,26,0,101
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,USP34,9736,2,61515811,61515811,Splice_Site,SNP,C,T,c.e34+1,10,49,0,140
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,XPO1,7514,2,61712934,61712934,Missense_Mutation,SNP,A,C,c.(2476-2478)gTt>gGt,3,9,0,30
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DYSF,8291,2,71795212,71795212,Splice_Site,SNP,C,T,c.(2641-2643)acC>acT,27,156,0,213
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ALMS1,7840,2,73800218,73800218,Silent,SNP,G,A,c.(11209-11211)cgG>cgA,5,39,1,84
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NAT8,9027,2,73868443,73868443,Missense_Mutation,SNP,G,A,c.(313-315)Cgt>Tgt,15,96,0,177
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LBX2,85474,2,74729802,74729802,5'Flank,SNP,C,T,,19,217,0,155
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LOXL3,84695,2,74777346,74777346,Missense_Mutation,SNP,C,T,c.(442-444)cGc>cAc,33,113,0,99
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,REG3A,5068,2,79384728,79384728,Missense_Mutation,SNP,C,T,c.(430-432)Ggc>Agc,24,79,0,121
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DUSP2,1844,2,96809635,96809635,Missense_Mutation,SNP,C,T,c.(871-873)cGg>cAg,6,364,0,307
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SNRNP200,23020,2,96949327,96949327,Missense_Mutation,SNP,C,T,c.(4708-4710)cGc>cAc,50,160,0,280
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARID5A,10865,2,97217671,97217671,Missense_Mutation,SNP,C,T,c.(1405-1407)gCg>gTg,7,10,0,28
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZAP70,7535,2,98351171,98351171,Missense_Mutation,SNP,C,T,c.(1078-1080)Cgc>Tgc,6,200,1,146
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZAP70,7535,2,98354255,98354255,Silent,SNP,C,T,c.(1516-1518)taC>taT,57,224,0,376
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SH3RF3,344558,2,110036096,110036096,Silent,SNP,C,T,c.(1399-1401)aaC>aaT,6,157,0,167
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZEB2,9839,2,145271307,145271307,Intron,SNP,C,T,,6,281,0,227
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC4A10,57282,2,162735756,162735756,Missense_Mutation,SNP,C,T,c.(1063-1065)gCt>gTt,5,68,0,155
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TTN,7273,2,179403322,179403322,Silent,SNP,C,T,c.(94309-94311)gaG>gaA,3,15,0,71
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SESTD1,91404,2,179981458,179981458,Silent,SNP,G,A,c.(1582-1584)ggC>ggT,14,42,0,220
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MYO1B,4430,2,192255107,192255107,Missense_Mutation,SNP,A,G,c.(1870-1872)aAc>aGc,37,112,1,168
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CCDC150,284992,2,197594835,197594835,Missense_Mutation,SNP,G,A,c.(2974-2976)cGg>cAg,3,17,0,59
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SF3B1,23451,2,198265469,198265469,Silent,SNP,A,T,c.(2686-2688)atT>atA,4,22,0,95
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MARS2,92935,2,198571553,198571553,Missense_Mutation,SNP,C,T,c.(1423-1425)gCc>gTc,34,82,1,203
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZFAND2B,130617,2,220073388,220073388,Intron,SNP,C,T,,9,66,0,104
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SPEG,10290,2,220327120,220327120,Intron,SNP,C,T,,10,56,0,83
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC4A3,6508,2,220504371,220504371,Missense_Mutation,SNP,G,A,c.(3190-3192)cGt>cAt,91,271,0,368
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PAX3,5077,2,223161800,223161800,Missense_Mutation,SNP,G,A,c.(217-219)tCg>tTg,9,491,0,534
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KCNE4,23704,2,223917921,223917921,Missense_Mutation,SNP,G,A,c.(526-528)Gtg>Atg,6,40,1,66
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MRPL44,65080,2,224828586,224828586,Silent,SNP,A,G,c.(760-762)gaA>gaG,27,84,0,186
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SPHKAP,80309,2,228882875,228882875,Missense_Mutation,SNP,C,G,c.(2695-2697)Gtc>Ctc,26,68,0,162
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TRIP12,9320,2,230744734,230744734,Missense_Mutation,SNP,G,A,c.(61-63)gCc>gTc,30,133,0,220
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TRIP12,9320,2,230744756,230744756,Nonsense_Mutation,SNP,G,A,c.(40-42)Cga>Tga,6,144,0,208
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,COPS7B,64708,2,232672347,232672347,Missense_Mutation,SNP,C,T,c.(787-789)Cgc>Tgc,10,59,0,98
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,USP40,55230,2,234398050,234398050,Missense_Mutation,SNP,C,T,c.(3088-3090)cGc>cAc,68,265,1,251
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,AGAP1,116987,2,236839496,236839496,Missense_Mutation,SNP,G,A,c.(1411-1413)cGc>cAc,66,272,0,217
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GBX2,2637,2,237075779,237075779,Intron,SNP,A,G,,23,235,0,227
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HDAC4,9759,2,240083850,240083850,Intron,SNP,C,T,,10,200,0,219
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SETMAR,6419,3,4345222,4345222,Intron,SNP,G,T,,4,12,0,33
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SUMF1,285362,3,4494656,4494656,Silent,SNP,C,T,c.(346-348)gcG>gcA,7,89,0,206
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IQSEC1,9922,3,12983157,12983157,Missense_Mutation,SNP,G,A,c.(274-276)Cgc>Tgc,19,233,0,216
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NUP210,23225,3,13384712,13384712,Missense_Mutation,SNP,G,A,c.(2926-2928)tCg>tTg,6,190,0,198
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NUP210,23225,3,13415301,13415301,Missense_Mutation,SNP,C,T,c.(1504-1506)Gtg>Atg,22,209,0,223
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,COLQ,8292,3,15529767,15529767,Silent,SNP,C,T,c.(265-267)tcG>tcA,29,123,0,121
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RARB,5915,3,25611325,25611325,Silent,SNP,T,G,c.(544-546)gcT>gcG,19,78,0,134
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC22A14,9389,3,38347690,38347690,Missense_Mutation,SNP,C,T,c.(172-174)gCg>gTg,43,163,0,240
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF197,10168,3,44684879,44684879,Missense_Mutation,SNP,C,T,c.(2257-2259)Cgg>Tgg,4,46,0,138
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TGM4,7047,3,44952843,44952843,Missense_Mutation,SNP,G,A,c.(1858-1860)Gtc>Atc,6,118,0,170
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CLEC3B,7123,3,45077309,45077309,Missense_Mutation,SNP,G,T,c.(502-504)Ggc>Tgc,21,310,0,312
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PTH1R,5745,3,46925080,46925080,Missense_Mutation,SNP,G,A,c.(31-33)Gcg>Acg,19,299,0,262
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SETD2,29072,3,47147209,47147209,Intron,SNP,G,A,,4,87,0,82
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CCDC51,79714,3,48476528,48476528,Missense_Mutation,SNP,C,T,c.(10-12)cGc>cAc,7,16,0,59
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IP6K2,51447,3,48725807,48725807,Missense_Mutation,SNP,C,T,c.(1180-1182)Gag>Aag,40,239,0,311
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,WDR6,11180,3,49050359,49050359,Silent,SNP,C,T,c.(1390-1392)tgC>tgT,17,193,0,192
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RNF123,63891,3,49740872,49740872,Missense_Mutation,SNP,C,T,c.(1762-1764)cCg>cTg,27,125,0,181
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GPR62,118442,3,51990740,51990740,Missense_Mutation,SNP,G,A,c.(1072-1074)Gca>Aca,18,65,0,129
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SFMBT1,51460,3,52939281,52939281,Silent,SNP,C,T,c.(2470-2472)ggG>ggA,6,33,0,62
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PTPRG,5793,3,62189436,62189436,Missense_Mutation,SNP,C,T,c.(1966-1968)aCg>aTg,4,41,0,74
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MAGI1,9223,3,65342507,65342507,Missense_Mutation,SNP,G,A,c.(3934-3936)gCg>gTg,17,156,0,118
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MAGI1,9223,3,65367578,65367578,Missense_Mutation,SNP,G,A,c.(2674-2676)aCg>aTg,15,68,0,59
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,OR5K3,403277,3,98110049,98110049,Silent,SNP,T,C,c.(538-540)gaT>gaC,4,45,0,125
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CPOX,1371,3,98304286,98304286,Splice_Site,SNP,G,A,c.(1171-1173)Cgg>Tgg,5,119,0,206
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARHGAP31,57514,3,119121048,119121048,Silent,SNP,G,A,c.(1447-1449)gcG>gcA,33,160,0,216
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HGD,3081,3,120347297,120347297,Missense_Mutation,SNP,T,C,c.(1267-1269)tAc>tGc,5,152,0,253
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PDIA5,10954,3,122835143,122835143,Missense_Mutation,SNP,G,A,c.(607-609)Gcc>Acc,14,258,0,205
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ADCY5,111,3,123049815,123049815,Missense_Mutation,SNP,C,T,c.(1567-1569)Gtc>Atc,6,193,0,188
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,UMPS,7372,3,124466371,124466371,IGR,SNP,C,G,,8,41,0,47
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC12A8,84561,3,124896627,124896627,Silent,SNP,T,G,c.(580-582)acA>acC,32,199,1,244
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,OSBPL11,114885,3,125298862,125298862,Missense_Mutation,SNP,C,T,c.(256-258)Gct>Act,8,38,0,101
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PLXNA1,5361,3,126749136,126749136,Silent,SNP,G,A,c.(5110-5112)acG>acA,12,208,0,170
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PODXL2,50512,3,127379991,127379991,Missense_Mutation,SNP,G,A,c.(1120-1122)Gat>Aat,6,31,0,78
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IFT122,55764,3,129178171,129178171,Intron,SNP,T,C,,5,120,1,98
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,COL6A5,256076,3,130116759,130116759,Missense_Mutation,SNP,C,T,c.(3901-3903)Cgg>Tgg,6,23,0,90
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BFSP2,8419,3,133119256,133119256,Missense_Mutation,SNP,A,G,c.(328-330)gAc>gGc,5,256,0,259
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARMC8,25852,3,137963921,137963921,Intron,SNP,T,C,,19,41,0,98
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MRAS,22808,3,138091782,138091782,Silent,SNP,G,A,c.(55-57)gtG>gtA,6,77,0,91
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CLSTN2,64084,3,140281671,140281671,Missense_Mutation,SNP,G,A,c.(2230-2232)cGc>cAc,37,98,0,178
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MED12L,116931,3,151127073,151127073,Missense_Mutation,SNP,C,T,c.(5758-5760)Cgg>Tgg,8,85,0,96
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MED12L,116931,3,151131061,151131061,Missense_Mutation,SNP,G,A,c.(6169-6171)cGa>cAa,6,87,0,91
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,AADAC,13,3,151538160,151538160,Intron,SNP,T,C,,3,9,0,23
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PLCH1,23007,3,155218523,155218523,Missense_Mutation,SNP,T,G,c.(1729-1731)Agt>Cgt,22,97,0,232
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARL14,80117,3,160395720,160395720,3'UTR,SNP,G,A,,3,6,0,35
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ETV5,2119,3,185797716,185797716,Silent,SNP,C,T,c.(538-540)tcG>tcA,40,98,0,127
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ATP13A4,84239,3,193176972,193176972,Silent,SNP,G,A,c.(1570-1572)ggC>ggT,29,224,0,285
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LSG1,55341,3,194369478,194369478,Missense_Mutation,SNP,A,G,c.(1474-1476)aTa>aCa,6,78,0,181
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,APOD,347,3,195303972,195303972,Intron,SNP,T,C,,4,68,0,36
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TNK2,10188,3,195605142,195605142,Missense_Mutation,SNP,A,T,c.(1237-1239)aTc>aAc,5,173,0,169
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MFI2,4241,3,196754711,196754711,Silent,SNP,G,A,c.(118-120)agC>agT,9,273,0,204
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC26A1,10861,4,985349,985349,Missense_Mutation,SNP,G,A,c.(142-144)gCg>gTg,12,48,0,94
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FGFR3,2261,4,1803457,1803457,Silent,SNP,G,A,c.(724-726)acG>acA,7,121,0,231
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EVC,2121,4,5713174,5713174,Missense_Mutation,SNP,C,T,c.(67-69)Ccg>Tcg,12,48,0,12
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SORCS2,57537,4,7736016,7736016,Missense_Mutation,SNP,G,A,c.(3226-3228)Ggc>Agc,51,138,0,172
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,AFAP1,60312,4,7783124,7783124,Intron,SNP,C,T,,10,52,0,151
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLIT2,9353,4,20256690,20256690,Intron,SNP,C,T,,10,265,0,292
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GPR125,166647,4,22415322,22415322,Missense_Mutation,SNP,C,T,c.(1924-1926)cGc>cAc,13,48,0,186
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ATP10D,57205,4,47514669,47514669,Missense_Mutation,SNP,C,T,c.(112-114)Cgc>Tgc,24,147,0,181
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KIT,3815,4,55598153,55598153,Missense_Mutation,SNP,G,A,c.(2350-2352)Gcc>Acc,30,197,0,274
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KIAA1211,57482,4,57180335,57180335,Missense_Mutation,SNP,C,T,c.(667-669)Cgc>Tgc,43,416,1,349
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SHROOM3,57619,4,77661626,77661626,Missense_Mutation,SNP,C,T,c.(2299-2301)tCg>tTg,17,43,0,107
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SHROOM3,57619,4,77662861,77662861,Missense_Mutation,SNP,C,T,c.(3535-3537)Cgc>Tgc,63,435,0,463
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FRAS1,80144,4,79403008,79403008,Missense_Mutation,SNP,G,A,c.(8494-8496)Gca>Aca,53,275,0,226
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FAM175A,84142,4,84401488,84401488,Intron,SNP,T,G,,5,54,0,73
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,WDFY3,23001,4,85676475,85676475,Missense_Mutation,SNP,C,T,c.(5503-5505)Gta>Ata,9,93,0,277
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HSD17B13,345275,4,88243819,88243819,Nonsense_Mutation,SNP,G,A,c.(175-177)Cga>Tga,24,73,0,230
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SPARCL1,8404,4,88403608,88403608,Missense_Mutation,SNP,C,T,c.(1636-1638)Gct>Act,8,124,0,152
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CCSER1,401145,4,92519821,92519821,Silent,SNP,G,A,c.(2314-2316)gcG>gcA,5,115,0,191
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RP11-766F14.2,0,4,100571976,100571976,Missense_Mutation,SNP,C,T,c.(3829-3831)cGc>cAc,50,117,0,210
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RP11-766F14.2,0,4,100574140,100574140,Missense_Mutation,SNP,C,T,c.(1666-1668)Gtc>Atc,7,179,0,227
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KIAA1109,84162,4,123210266,123210266,Missense_Mutation,SNP,A,G,c.(9307-9309)Aca>Gca,6,29,0,73
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC25A31,83447,4,128651748,128651748,Silent,SNP,C,T,c.(46-48)gaC>gaT,38,290,0,305
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,USP38,84640,4,144135949,144135949,Silent,SNP,A,G,c.(2818-2820)acA>acG,18,56,0,124
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FSTL5,56884,4,162380452,162380452,Missense_Mutation,SNP,A,G,c.(1627-1629)gTc>gCc,4,68,0,120
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KLHL2,11275,4,166220774,166220774,Missense_Mutation,SNP,G,A,c.(886-888)cGg>cAg,7,49,0,87
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MFAP3L,9848,4,170912846,170912846,Missense_Mutation,SNP,C,T,c.(913-915)Gcc>Acc,9,194,0,202
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CEP72,55722,5,620367,620367,Nonsense_Mutation,SNP,C,T,c.(394-396)Cag>Tag,10,64,0,76
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZDHHC11B,653082,5,766874,766874,Nonsense_Mutation,SNP,A,T,c.(160-162)tTg>tAg,7,471,0,454
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZDHHC11,79844,5,840694,840694,Missense_Mutation,SNP,C,T,c.(700-702)Gtg>Atg,11,341,1,398
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RP11-43F13.3,0,5,989530,989530,RNA,SNP,A,G,,5,78,0,76
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC12A7,10723,5,1085509,1085509,Missense_Mutation,SNP,C,T,c.(754-756)cGt>cAt,67,289,1,393
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC6A3,6531,5,1411428,1411428,Missense_Mutation,SNP,G,A,c.(1198-1200)aCg>aTg,8,503,0,458
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LPCAT1,79888,5,1494997,1494997,Missense_Mutation,SNP,C,T,c.(310-312)cGc>cAc,21,239,0,229
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IRX4,50805,5,1878656,1878656,Silent,SNP,G,A,c.(985-987)agC>agT,5,59,0,118
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ADAMTS16,170690,5,5146343,5146343,Silent,SNP,C,T,c.(274-276)tcC>tcT,33,302,0,293
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KIAA0947,0,5,5462641,5462641,Missense_Mutation,SNP,G,A,c.(3193-3195)gGc>gAc,6,120,0,180
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SEMA5A,9037,5,9066709,9066709,Missense_Mutation,SNP,G,A,c.(2122-2124)aCg>aTg,10,249,0,319
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ANKRD33B,651746,5,10649629,10649629,Missense_Mutation,SNP,C,T,c.(889-891)Cgg>Tgg,7,235,0,276
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DHX29,54505,5,54558582,54558582,Missense_Mutation,SNP,T,G,c.(3703-3705)aAg>aCg,32,122,0,289
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PDE4D,5144,5,58271633,58271633,Missense_Mutation,SNP,T,G,c.(1864-1866)Agc>Cgc,5,42,0,51
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NLN,57486,5,65108093,65108093,Missense_Mutation,SNP,C,T,c.(1855-1857)Cca>Tca,17,93,0,233
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PTCD2,79810,5,71648559,71648559,Missense_Mutation,SNP,G,A,c.(919-921)aGa>aAa,4,39,0,84
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF366,167465,5,71756583,71756583,Silent,SNP,G,A,c.(739-741)ggC>ggT,92,358,0,310
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FCHO2,115548,5,72333630,72333630,Intron,SNP,T,C,,4,35,1,43
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARHGEF28,64283,5,73205433,73205433,Missense_Mutation,SNP,G,A,c.(4357-4359)cGc>cAc,7,317,0,289
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ANKRD31,256006,5,74488499,74488499,Silent,SNP,T,C,c.(1399-1401)ggA>ggG,5,45,0,86
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NR2F1,7025,5,92923863,92923863,Missense_Mutation,SNP,G,A,c.(703-705)cGc>cAc,10,260,0,279
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SEMA6A,57556,5,115782637,115782637,Missense_Mutation,SNP,G,A,c.(2764-2766)aCg>aTg,16,196,0,278
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DND1,373863,5,140052264,140052264,Missense_Mutation,SNP,G,A,c.(370-372)Cgg>Tgg,10,348,0,304
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PCDHA5,56143,5,140202653,140202653,Silent,SNP,G,A,c.(1291-1293)tcG>tcA,6,484,1,424
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PCDHA5,56143,5,140203140,140203140,Missense_Mutation,SNP,C,T,c.(1780-1782)Cgc>Tgc,80,284,0,358
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PCDHA7,56141,5,140215881,140215881,Missense_Mutation,SNP,A,T,c.(1912-1914)gAt>gTt,76,217,0,383
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PCDHA13,56136,5,140263462,140263462,Missense_Mutation,SNP,G,A,c.(1609-1611)Gcg>Acg,7,739,0,624
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PCDHA13,56136,5,140264145,140264145,Silent,SNP,G,A,c.(2290-2292)ccG>ccA,49,152,1,205
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TCERG1,10915,5,145838472,145838472,Missense_Mutation,SNP,G,A,c.(463-465)cGt>cAt,20,43,0,127
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CSF1R,1436,5,149431597,149431597,IGR,SNP,C,T,,34,278,0,402
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CAMK2A,815,5,149610941,149610941,Missense_Mutation,SNP,G,A,c.(1036-1038)Cgg>Tgg,14,66,0,119
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CAMK2A,815,5,149627335,149627335,Splice_Site,SNP,C,T,c.(943-945)Gga>Aga,9,156,0,127
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TNIP1,10318,5,150409657,150409657,3'UTR,SNP,G,A,,27,415,0,290
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ANXA6,309,5,150512136,150512136,Intron,SNP,C,T,,5,156,0,170
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GEMIN5,25929,5,154278859,154278859,Missense_Mutation,SNP,G,A,c.(3025-3027)gCg>gTg,9,68,0,87
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ADRA1B,147,5,159399051,159399051,Missense_Mutation,SNP,G,A,c.(1114-1116)cGc>cAc,5,146,0,42
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GABRG2,2566,5,161530953,161530953,Silent,SNP,C,T,c.(688-690)ggC>ggT,19,131,0,292
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TENM2,57451,5,167642227,167642227,Missense_Mutation,SNP,G,A,c.(4027-4029)cGc>cAc,5,284,1,312
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FOXI1,2299,5,169532985,169532985,Silent,SNP,G,A,c.(22-24)gcG>gcA,10,109,0,100
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RNF44,22838,5,175956173,175956173,Intron,SNP,C,T,,14,139,0,193
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FGFR4,2264,5,176517460,176517460,Missense_Mutation,SNP,G,A,c.(160-162)cGt>cAt,8,40,0,85
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DOK3,79930,5,176936548,176936548,Silent,SNP,G,A,c.(160-162)gcC>gcT,7,74,0,93
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FAM153C,653316,5,177482954,177482954,IGR,SNP,G,A,,8,285,0,433
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,Unknown,0,5,178951740,178951740,IGR,SNP,C,T,,7,238,0,335
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MAML1,9794,5,179201806,179201806,Silent,SNP,C,A,c.(2977-2979)atC>atA,7,132,0,166
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MAML1,9794,5,179201807,179201807,Missense_Mutation,SNP,G,T,c.(2980-2982)Gac>Tac,6,129,0,161
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MAML1,9794,5,179201808,179201808,Missense_Mutation,SNP,A,T,c.(2980-2982)gAc>gTc,5,126,0,159
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MGAT1,4245,5,180219791,180219791,Missense_Mutation,SNP,C,T,c.(181-183)Gcc>Acc,4,87,0,132
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TRIM41,90933,5,180661332,180661332,Missense_Mutation,SNP,G,A,c.(1450-1452)Ggc>Agc,7,135,0,195
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FARS2,10667,6,5369392,5369392,Missense_Mutation,SNP,G,A,c.(589-591)Gtg>Atg,19,62,0,119
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SIRT5,23408,6,13592008,13592008,Silent,SNP,C,T,c.(355-357)cgC>cgT,19,275,0,199
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KIF13A,63971,6,17881731,17881731,Intron,SNP,T,G,,5,98,0,114
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NHLRC1,378884,6,18122485,18122485,Missense_Mutation,SNP,T,C,c.(352-354)cAc>cGc,74,190,0,252
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HIST1H1C,3006,6,26056145,26056145,Missense_Mutation,SNP,G,A,c.(511-513)gCt>gTt,12,353,0,331
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HIST1H3E,8353,6,26225789,26225789,Missense_Mutation,SNP,C,T,c.(406-408)gCg>gTg,4,42,0,70
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BTN2A1,11120,6,26465445,26465445,Missense_Mutation,SNP,G,A,c.(745-747)Gtg>Atg,12,44,0,168
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PPP1R11,6992,6,30036954,30036954,Silent,SNP,C,T,c.(250-252)ggC>ggT,6,211,0,178
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TRIM26,7726,6,30153776,30153776,Silent,SNP,G,A,c.(1495-1497)acC>acT,34,226,0,261
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,POU5F1,5460,6,31138256,31138256,Missense_Mutation,SNP,C,T,c.(142-144)Ggg>Agg,6,101,1,154
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EHMT2,10919,6,31855733,31855733,Missense_Mutation,SNP,C,T,c.(1750-1752)cGg>cAg,6,21,0,42
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,STK19,8859,6,31939920,31939920,Silent,SNP,C,T,c.(145-147)gtC>gtT,20,115,0,145
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,AGPAT1,10554,6,32137969,32137969,Silent,SNP,G,A,c.(577-579)ggC>ggT,51,243,0,314
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NOTCH4,4855,6,32189002,32189002,Silent,SNP,C,T,c.(550-552)ccG>ccA,57,216,0,325
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TAP2,6891,6,32796739,32796739,Missense_Mutation,SNP,C,T,c.(2005-2007)Gcc>Acc,38,198,0,177
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RPS10,6204,6,34392878,34392878,Missense_Mutation,SNP,G,A,c.(121-123)Ccc>Tcc,7,74,1,174
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PACSIN1,29993,6,34499465,34499465,Missense_Mutation,SNP,G,A,c.(1126-1128)Ggg>Agg,23,120,0,137
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ANKS1A,23294,6,35047413,35047413,Missense_Mutation,SNP,G,A,c.(2404-2406)Gtg>Atg,37,135,0,228
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ETV7,51513,6,36339307,36339307,Missense_Mutation,SNP,C,T,c.(463-465)cGa>cAa,21,127,0,147
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C6orf89,221477,6,36870129,36870129,Missense_Mutation,SNP,T,C,c.(322-324)Tcc>Ccc,13,204,0,345
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BTBD9,114781,6,38147358,38147358,Intron,SNP,T,G,,14,175,0,236
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GLTSCR1L,23506,6,42832553,42832553,Missense_Mutation,SNP,C,T,c.(2608-2610)aCg>aTg,9,250,0,243
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CUL9,23113,6,43166461,43166461,Missense_Mutation,SNP,G,A,c.(2917-2919)cGt>cAt,16,425,0,369
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GSTA5,221357,6,52702370,52702370,Missense_Mutation,SNP,T,C,c.(124-126)gAc>gGc,9,31,0,82
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GCLC,2729,6,53370276,53370276,Missense_Mutation,SNP,C,T,c.(1309-1311)Gag>Aag,10,129,0,270
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GCLC,2729,6,53370622,53370622,Missense_Mutation,SNP,T,G,c.(1267-1269)agA>agC,22,139,0,314
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PHF3,23469,6,64395212,64395212,Missense_Mutation,SNP,G,A,c.(1588-1590)cGa>cAa,9,64,0,129
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,UBE3D,90025,6,83772930,83772930,Intron,SNP,A,G,,4,55,0,60
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DOPEY1,23033,6,83877655,83877655,Silent,SNP,C,T,c.(7165-7167)acC>acT,11,151,0,223
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SYNCRIP,10492,6,86324883,86324883,Missense_Mutation,SNP,T,A,c.(1462-1464)tAt>tTt,10,46,0,98
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RARS2,57038,6,88229369,88229369,Missense_Mutation,SNP,A,G,c.(1168-1170)gTc>gCc,21,133,0,288
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CNR1,1268,6,88854287,88854287,Missense_Mutation,SNP,G,A,c.(706-708)gCg>gTg,5,108,0,146
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PREP,5550,6,105781268,105781268,Silent,SNP,G,A,c.(934-936)cgC>cgT,18,98,0,230
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KIAA1919,91749,6,111587087,111587087,Missense_Mutation,SNP,G,A,c.(322-324)Gtc>Atc,6,25,0,93
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FAM26E,254228,6,116832954,116832954,Missense_Mutation,SNP,G,A,c.(94-96)cGt>cAt,26,118,0,213
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARG1,383,6,131902513,131902513,Nonsense_Mutation,SNP,G,T,c.(460-462)Gga>Tga,4,65,0,187
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC2A12,154091,6,134350571,134350571,Missense_Mutation,SNP,G,A,c.(391-393)aCg>aTg,5,134,1,215
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MAP7,9053,6,136682155,136682155,Silent,SNP,G,A,c.(1687-1689)cgC>cgT,19,71,0,114
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MAP7,9053,6,136683651,136683651,Missense_Mutation,SNP,C,T,c.(1462-1464)cGg>cAg,6,256,0,221
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PEX7,5191,6,137191957,137191957,Intron,SNP,A,C,,6,54,0,46
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HIVEP2,3097,6,143074653,143074653,Missense_Mutation,SNP,G,A,c.(6931-6933)tCg>tTg,38,163,0,235
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,UTRN,7402,6,144779941,144779941,Missense_Mutation,SNP,G,A,c.(2320-2322)Gag>Aag,4,8,0,45
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PLEKHG1,57480,6,151054902,151054902,Missense_Mutation,SNP,G,A,c.(85-87)Ggc>Agc,8,189,0,232
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MTHFD1L,25902,6,151281524,151281524,Silent,SNP,C,T,c.(1915-1917)agC>agT,34,159,0,150
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARID1B,57492,6,157405906,157405906,Silent,SNP,G,A,c.(2107-2109)gcG>gcA,77,365,0,333
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SYNJ2,8871,6,158499285,158499285,Missense_Mutation,SNP,C,T,c.(2539-2541)Cgt>Tgt,16,89,0,132
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TULP4,56995,6,158834141,158834141,Silent,SNP,G,A,c.(295-297)acG>acA,29,86,0,77
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TULP4,56995,6,158882588,158882588,Intron,SNP,G,A,,11,41,0,77
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FNDC1,84624,6,159636016,159636016,Missense_Mutation,SNP,G,A,c.(499-501)cGg>cAg,11,360,0,337
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FNDC1,84624,6,159655385,159655385,Missense_Mutation,SNP,T,C,c.(3841-3843)Tac>Cac,40,240,0,256
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC22A2,6582,6,160679391,160679391,Silent,SNP,C,T,c.(397-399)tcG>tcA,5,77,0,92
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,INTS1,26173,7,1511958,1511958,Silent,SNP,G,A,c.(6133-6135)gcC>gcT,8,191,0,174
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,INTS1,26173,7,1542657,1542657,Missense_Mutation,SNP,G,A,c.(229-231)Cgc>Tgc,8,324,0,223
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SNX8,29886,7,2294690,2294690,3'UTR,SNP,G,A,,52,242,0,202
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TTYH3,80727,7,2687218,2687218,Missense_Mutation,SNP,C,T,c.(571-573)aCg>aTg,16,348,0,294
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TNRC18,84629,7,5428630,5428630,Silent,SNP,C,T,c.(823-825)gcG>gcA,31,174,0,108
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DGKB,1607,7,14378176,14378176,Missense_Mutation,SNP,C,T,c.(2089-2091)Gtc>Atc,10,26,0,45
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,AHR,196,7,17379694,17379694,Missense_Mutation,SNP,A,G,c.(2245-2247)Aag>Gag,6,89,0,141
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DNAH11,8701,7,21678658,21678658,Missense_Mutation,SNP,T,C,c.(4918-4920)cTc>cCc,13,46,0,71
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DFNA5,1687,7,24784360,24784360,Silent,SNP,C,T,c.(223-225)tcG>tcA,51,306,0,387
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NFE2L3,9603,7,26224492,26224492,Missense_Mutation,SNP,A,T,c.(1174-1176)Ata>Tta,14,35,0,133
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EVX1,2128,7,27285494,27285494,Intron,SNP,C,T,,10,101,0,101
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FAM188B,84182,7,30922570,30922570,Silent,SNP,C,T,c.(2185-2187)aaC>aaT,12,99,0,153
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NEUROD6,63974,7,31378399,31378399,Missense_Mutation,SNP,C,T,c.(484-486)Gtc>Atc,39,90,1,200
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TRGV11,6985,7,38331296,38331296,RNA,SNP,G,C,,16,57,0,108
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GLI3,2737,7,42212232,42212232,Intron,SNP,G,A,,13,153,0,118
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HECW1,23072,7,43484488,43484488,Missense_Mutation,SNP,G,A,c.(1717-1719)Gcc>Acc,11,28,0,69
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,AEBP1,165,7,44147679,44147679,Silent,SNP,T,C,c.(934-936)gaT>gaC,6,59,0,68
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GCK,2645,7,44189363,44189363,Silent,SNP,G,A,c.(673-675)atC>atT,8,415,0,395
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF117,51351,7,64439353,64439353,Missense_Mutation,SNP,C,T,c.(595-597)gGc>gAc,6,37,0,175
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ASL,435,7,65551734,65551734,Silent,SNP,C,T,c.(526-528)caC>caT,9,247,0,258
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FZD9,8326,7,72849234,72849234,Silent,SNP,C,T,c.(895-897)ggC>ggT,41,225,0,213
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CLIP2,7461,7,73752959,73752959,Silent,SNP,G,A,c.(301-303)acG>acA,11,499,1,405
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,YWHAG,7532,7,75958937,75958937,Missense_Mutation,SNP,G,A,c.(700-702)aCg>aTg,7,85,0,109
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CCDC146,57639,7,76903044,76903044,Missense_Mutation,SNP,T,C,c.(1207-1209)Tct>Cct,10,55,0,86
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MAGI2,9863,7,77824318,77824318,Silent,SNP,C,T,c.(2140-2142)ccG>ccA,16,124,0,138
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ABCB4,5244,7,87079355,87079355,Silent,SNP,G,A,c.(760-762)gcC>gcT,14,328,1,444
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DYNC1I1,1780,7,95739378,95739378,Missense_Mutation,SNP,A,G,c.(1804-1806)Aca>Gca,5,79,0,116
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MCM7,4176,7,99691944,99691944,Missense_Mutation,SNP,C,T,c.(1699-1701)cGc>cAc,31,107,0,183
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LRCH4,4034,7,100174739,100174739,Missense_Mutation,SNP,G,A,c.(1333-1335)gCc>gTc,7,359,0,317
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MUC17,140453,7,100663439,100663439,Missense_Mutation,SNP,C,T,c.(22-24)gCg>gTg,5,204,1,121
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CUX1,1523,7,101845114,101845114,Missense_Mutation,SNP,C,T,c.(2536-2538)aCg>aTg,41,202,0,229
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SH2B2,10603,7,101952153,101952153,Silent,SNP,G,A,c.(1015-1017)tcG>tcA,35,150,0,204
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LHFPL3,375612,7,103969535,103969535,Missense_Mutation,SNP,G,C,c.(265-267)gGc>gCc,5,280,1,312
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PIK3CG,5294,7,106508720,106508720,Silent,SNP,C,T,c.(712-714)gaC>gaT,27,127,0,174
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LAMB4,22798,7,107756563,107756563,Silent,SNP,A,G,c.(76-78)ggT>ggC,11,109,0,128
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DOCK4,9732,7,111644163,111644163,Missense_Mutation,SNP,C,T,c.(61-63)Gtt>Att,7,52,0,166
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IMPDH1,3614,7,128038485,128038485,Missense_Mutation,SNP,C,T,c.(787-789)Gtc>Atc,5,135,0,146
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KCP,375616,7,128542879,128542879,RNA,SNP,C,T,,50,253,0,268
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PLXNA4,91584,7,132192849,132192849,Missense_Mutation,SNP,G,A,c.(604-606)Cgg>Tgg,33,131,0,251
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KIAA1549,57670,7,138588338,138588338,Missense_Mutation,SNP,A,G,c.(3664-3666)gTg>gCg,34,128,0,169
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,UBN2,254048,7,138916468,138916468,Missense_Mutation,SNP,G,A,c.(238-240)Gcc>Acc,19,58,0,20
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RP11-1220K2.2,0,7,141895990,141895990,Missense_Mutation,SNP,C,G,c.(4381-4383)atC>atG,36,180,0,237
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EPHA1,2041,7,143094660,143094660,Missense_Mutation,SNP,C,T,c.(1705-1707)cGg>cAg,5,228,0,163
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TMEM176A,55365,7,150498759,150498759,Missense_Mutation,SNP,C,T,c.(121-123)Cgg>Tgg,6,246,1,170
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,AOC1,26,7,150558217,150558217,Missense_Mutation,SNP,G,A,c.(2176-2178)Gtc>Atc,4,80,0,107
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,AGAP3,116988,7,150812192,150812192,Missense_Mutation,SNP,G,C,c.(334-336)aGc>aCc,22,95,0,17
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CHPF2,54480,7,150932567,150932567,Missense_Mutation,SNP,C,T,c.(697-699)Cgg>Tgg,55,317,0,360
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RBM33,155435,7,155537918,155537918,Missense_Mutation,SNP,A,C,c.(2599-2601)agA>agC,34,143,0,269
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LMBR1,64327,7,156572430,156572430,Intron,SNP,T,C,,3,27,0,60
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NCAPG2,54892,7,158449082,158449082,Missense_Mutation,SNP,C,T,c.(2257-2259)cGc>cAc,38,80,0,128
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CSGALNACT1,55790,8,19277950,19277950,Missense_Mutation,SNP,G,A,c.(1033-1035)Cgc>Tgc,25,59,0,161
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PEBP4,157310,8,22584730,22584730,Missense_Mutation,SNP,C,T,c.(361-363)Gcc>Acc,29,117,0,215
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TRIM35,23087,8,27145480,27145480,Missense_Mutation,SNP,C,A,c.(1069-1071)Gcc>Tcc,13,212,1,222
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EPHX2,2053,8,27402048,27402048,3'UTR,SNP,G,A,,10,106,0,162
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,INTS9,55756,8,28628536,28628536,Missense_Mutation,SNP,G,A,c.(1624-1626)gCc>gTc,8,191,0,193
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ASH2L,9070,8,37996505,37996505,Silent,SNP,C,T,c.(1801-1803)gcC>gcT,11,61,0,98
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PRKDC,5591,8,48695146,48695146,Missense_Mutation,SNP,G,A,c.(11185-11187)gCg>gTg,18,137,0,150
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TCEA1,6917,8,54906286,54906286,Missense_Mutation,SNP,C,T,c.(262-264)Gaa>Aaa,9,79,0,170
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NSMAF,8439,8,59572142,59572142,Missense_Mutation,SNP,A,G,c.(49-51)Tcc>Ccc,26,96,0,114
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CSPP1,79848,8,68062096,68062096,Missense_Mutation,SNP,C,T,c.(2038-2040)gCt>gTt,6,40,0,121
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PREX2,80243,8,68968098,68968098,Missense_Mutation,SNP,T,C,c.(1126-1128)gTc>gCc,12,89,0,134
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,XKR9,389668,8,71595837,71595837,Intron,SNP,A,C,,5,199,1,178
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,REXO1L1,0,8,86573755,86573755,Missense_Mutation,SNP,C,T,c.(1972-1974)Gcc>Acc,99,2743,1,3038
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,COL14A1,7373,8,121239510,121239510,Missense_Mutation,SNP,G,A,c.(2056-2058)Ggt>Agt,11,138,0,236
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KCNQ3,3786,8,133141591,133141591,Missense_Mutation,SNP,G,A,c.(2536-2538)aCg>aTg,8,288,0,269
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,WISP1,8840,8,134237712,134237712,Silent,SNP,C,T,c.(688-690)tgC>tgT,25,145,0,172
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TSNARE1,203062,8,143381992,143381992,Missense_Mutation,SNP,G,A,c.(1144-1146)cCg>cTg,11,54,0,60
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BAI1,575,8,143603429,143603429,Missense_Mutation,SNP,A,G,c.(3127-3129)cAc>cGc,47,176,0,189
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,JRK,8629,8,143747386,143747386,RNA,SNP,C,T,,10,553,1,484
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GSDMD,79792,8,144643035,144643035,Intron,SNP,C,T,,25,119,0,120
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FAM83H,286077,8,144809044,144809044,Missense_Mutation,SNP,G,A,c.(2587-2589)Ctc>Ttc,7,512,0,458
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EPPK1,83481,8,144940586,144940586,Missense_Mutation,SNP,A,G,c.(6835-6837)cTg>cCg,65,1201,1,1173
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PLEC,5339,8,144994797,144994797,Silent,SNP,G,A,c.(9601-9603)acC>acT,8,560,0,490
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PLEC,5339,8,144998508,144998508,Silent,SNP,G,A,c.(5998-6000)aaC>aaT,9,578,0,498
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PLEC,5339,8,145007047,145007047,Missense_Mutation,SNP,C,T,c.(2062-2064)Gtg>Atg,8,235,1,262
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FBXL6,26233,8,145581740,145581740,Missense_Mutation,SNP,A,G,c.(367-369)aTt>aCt,41,205,0,182
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PPP1R16A,84988,8,145723370,145723370,Intron,SNP,C,T,,12,42,0,62
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF251,90987,8,145979673,145979673,Missense_Mutation,SNP,A,G,c.(67-69)Tac>Cac,5,189,0,143
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C9orf24,84688,9,34382727,34382727,Intron,SNP,C,T,,5,82,0,115
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FANCG,2189,9,35079206,35079206,Silent,SNP,T,C,c.(115-117)cgA>cgG,5,477,0,511
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TLN1,7094,9,35717211,35717211,Missense_Mutation,SNP,C,T,c.(2389-2391)cGt>cAt,6,173,0,205
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FRMPD1,22844,9,37733743,37733743,Missense_Mutation,SNP,C,G,c.(1138-1140)gCc>gGc,12,64,0,132
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PRKACG,5568,9,71629000,71629000,Silent,SNP,G,A,c.(7-9)aaC>aaT,7,33,0,39
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TRPM3,80036,9,73240142,73240142,Missense_Mutation,SNP,G,A,c.(1738-1740)Cgg>Tgg,15,301,0,235
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ALDH1A1,216,9,75545851,75545851,Missense_Mutation,SNP,C,A,c.(256-258)Ggg>Tgg,8,150,0,187
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,XXyac-YM21GA2.3,0,9,90462186,90462186,RNA,SNP,C,G,,13,93,0,180
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SPATA31E1,286234,9,90503410,90503410,Silent,SNP,A,G,c.(4006-4008)ggA>ggG,32,83,0,185
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF169,169841,9,97063317,97063317,Missense_Mutation,SNP,C,T,c.(1477-1479)Cgt>Tgt,20,78,0,191
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HABP4,22927,9,99228064,99228064,Intron,SNP,C,T,,10,51,0,103
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SEC61B,10952,9,101983309,101983309,5'Flank,SNP,T,C,,10,95,0,119
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SEC61B,10952,9,101983418,101983418,5'Flank,SNP,G,A,,5,24,0,42
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,INVS,27130,9,103054843,103054843,Silent,SNP,A,C,c.(2302-2304)ccA>ccC,7,167,0,186
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC46A2,57864,9,115652095,115652095,Silent,SNP,A,G,c.(865-867)ggT>ggC,5,89,0,139
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CRB2,286204,9,126132729,126132729,Missense_Mutation,SNP,G,A,c.(1396-1398)cGc>cAc,39,145,0,240
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NR6A1,2649,9,127306133,127306133,Missense_Mutation,SNP,A,T,c.(388-390)aTc>aAc,12,56,0,121
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GOLGA1,2800,9,127661670,127661670,Missense_Mutation,SNP,C,T,c.(1249-1251)Gcc>Acc,7,189,0,138
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LRSAM1,90678,9,130242135,130242135,Missense_Mutation,SNP,G,T,c.(919-921)gaG>gaT,22,100,0,145
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FAM129B,64855,9,130286070,130286070,Silent,SNP,C,T,c.(475-477)ccG>ccA,13,98,0,106
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FAM129B,64855,9,130287413,130287413,Silent,SNP,G,A,c.(343-345)gcC>gcT,21,200,0,202
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ENG,2022,9,130580436,130580436,Missense_Mutation,SNP,G,A,c.(1648-1650)aCg>aTg,44,182,0,209
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DOLK,22845,9,131708951,131708951,Missense_Mutation,SNP,C,T,c.(631-633)cGc>cAc,4,147,0,176
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NCS1,23413,9,132963263,132963263,Splice_Site,SNP,T,C,c.e2+2,47,369,0,426
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ASS1,445,9,133370298,133370298,Missense_Mutation,SNP,G,A,c.(1015-1017)Gcc>Acc,117,380,0,547
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PRRC2B,84726,9,134308138,134308138,Missense_Mutation,SNP,G,A,c.(250-252)Ggg>Agg,4,151,0,145
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ABO,28,9,136133530,136133530,RNA,SNP,C,T,,12,56,0,60
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,VAV2,7410,9,136635539,136635539,Missense_Mutation,SNP,G,A,c.(2308-2310)Cgg>Tgg,35,134,1,187
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,VAV2,7410,9,136650901,136650901,Missense_Mutation,SNP,G,A,c.(1528-1530)gCc>gTc,5,28,0,78
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NOTCH1,4851,9,139395277,139395277,Silent,SNP,G,A,c.(5659-5661)atC>atT,14,68,0,133
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NOTCH1,4851,9,139405133,139405133,Silent,SNP,G,A,c.(2710-2712)tgC>tgT,8,441,0,438
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ABCA2,20,9,139903862,139903862,Missense_Mutation,SNP,G,A,c.(6784-6786)Cgc>Tgc,11,227,0,193
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,UAP1L1,91373,9,139973587,139973587,Missense_Mutation,SNP,A,G,c.(829-831)gAc>gGc,50,262,0,253
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RNF208,727800,9,140115068,140115068,Silent,SNP,G,A,c.(595-597)taC>taT,56,194,0,233
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ENTPD8,377841,9,140329487,140329487,Missense_Mutation,SNP,G,A,c.(1366-1368)gCg>gTg,13,221,0,168
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EHMT1,79813,9,140669604,140669604,Missense_Mutation,SNP,G,A,c.(1690-1692)cGc>cAc,11,420,0,333
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CACNA1B,774,9,141014657,141014657,Missense_Mutation,SNP,C,T,c.(6070-6072)aCg>aTg,18,66,0,82
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DIP2C,22982,10,386829,386829,Intron,SNP,G,A,,13,475,0,479
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DIP2C,22982,10,394615,394615,Missense_Mutation,SNP,G,A,c.(3196-3198)gCg>gTg,27,97,0,127
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DIP2C,22982,10,394671,394671,Silent,SNP,G,A,c.(3139-3141)tgC>tgT,6,154,0,151
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PFKP,5214,10,3147615,3147615,Silent,SNP,C,T,c.(694-696)tgC>tgT,12,202,0,221
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PFKP,5214,10,3151663,3151663,Silent,SNP,C,T,c.(1078-1080)tgC>tgT,7,283,0,227
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ITIH5,80760,10,7608140,7608140,Missense_Mutation,SNP,C,T,c.(2380-2382)Gcc>Acc,11,227,0,273
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PROSER2,254427,10,11911885,11911885,Missense_Mutation,SNP,C,T,c.(787-789)gCg>gTg,18,83,0,75
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MCM10,55388,10,13237180,13237180,Nonsense_Mutation,SNP,C,T,c.(1888-1890)Cga>Tga,56,217,0,238
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CUBN,8029,10,16916369,16916369,Intron,SNP,G,A,,13,94,0,262
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CUBN,8029,10,16975249,16975249,Silent,SNP,T,C,c.(5959-5961)gcA>gcG,8,151,1,224
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BMS1,9790,10,43280006,43280006,Missense_Mutation,SNP,G,A,c.(163-165)cGa>cAa,18,59,0,101
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C10orf71,118461,10,50534437,50534437,Missense_Mutation,SNP,G,A,c.(3847-3849)Ggg>Agg,14,55,0,109
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PCDH15,65217,10,56129031,56129031,Missense_Mutation,SNP,G,A,c.(322-324)cCg>cTg,12,92,0,284
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CTNNA3,29119,10,68139032,68139032,Missense_Mutation,SNP,G,A,c.(1609-1611)gCg>gTg,6,359,0,441
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PRF1,5551,10,72358912,72358912,Silent,SNP,G,A,c.(565-567)Ctg>Ttg,12,130,0,146
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,UNC5B,219699,10,73047410,73047410,Silent,SNP,C,T,c.(787-789)ggC>ggT,10,119,0,132
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MMRN2,79812,10,88702758,88702758,Missense_Mutation,SNP,C,T,c.(1783-1785)Gcc>Acc,55,181,0,118
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CH25H,9023,10,90966262,90966262,Missense_Mutation,SNP,G,A,c.(787-789)aCg>aTg,6,55,0,89
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IFIT3,3437,10,91099793,91099793,Missense_Mutation,SNP,T,C,c.(1381-1383)Tct>Cct,6,64,0,83
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IDE,3416,10,94264552,94264552,Splice_Site,SNP,G,A,c.(1429-1431)Cgg>Tgg,10,28,0,98
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PGAM1,5223,10,99184627,99184627,5'Flank,SNP,C,T,,4,32,0,40
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C10orf62,414157,10,99349816,99349816,Silent,SNP,C,T,c.(160-162)agC>agT,46,144,0,237
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CRTAC1,55118,10,99696033,99696033,Silent,SNP,G,A,c.(313-315)taC>taT,22,269,0,202
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CYP17A1,1586,10,104591282,104591282,Missense_Mutation,SNP,G,A,c.(1225-1227)cCg>cTg,6,386,0,403
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CALHM2,51063,10,105206948,105206948,Silent,SNP,C,T,c.(931-933)gcG>gcA,24,65,0,98
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SMC3,9126,10,112337673,112337673,Splice_Site,SNP,G,A,c.e6+1,9,77,0,112
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DMBT1,1755,10,124402818,124402818,Silent,SNP,G,A,c.(7144-7146)tcG>tcA,79,256,0,346
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FAM53B,9679,10,126312069,126312069,Silent,SNP,G,A,c.(1009-1011)acC>acT,38,119,0,131
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EBF3,253738,10,131640520,131640520,Missense_Mutation,SNP,G,A,c.(1231-1233)gCg>gTg,6,77,0,107
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TTC40,0,10,134694398,134694398,Missense_Mutation,SNP,C,T,c.(3766-3768)Ggc>Agc,6,192,0,185
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KNDC1,85442,10,134997386,134997386,Missense_Mutation,SNP,C,T,c.(517-519)gCg>gTg,8,30,0,40
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CDHR5,53841,11,617432,617432,Silent,SNP,G,A,c.(2455-2457)tcC>tcT,5,231,0,233
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MUC6,4588,11,1029085,1029085,Silent,SNP,G,A,c.(1339-1341)tcC>tcT,11,303,0,340
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MUC2,4583,11,1087595,1087595,Missense_Mutation,SNP,C,A,c.(3346-3348)Ctg>Atg,9,77,0,80
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CD81,975,11,2416709,2416709,Missense_Mutation,SNP,G,A,c.(418-420)Gcc>Acc,22,367,0,333
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NUP98,4928,11,3714458,3714458,Intron,SNP,A,G,,4,36,0,76
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DNHD1,144132,11,6549916,6549916,Missense_Mutation,SNP,C,T,c.(2002-2004)Cgg>Tgg,6,241,0,291
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RPS13,6207,11,17098075,17098075,Intron,SNP,A,C,,4,110,1,80
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NCR3LG1,374383,11,17373522,17373522,Silent,SNP,G,A,c.(4-6)acG>acA,18,188,0,179
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,OTOG,340990,11,17631601,17631601,Missense_Mutation,SNP,C,T,c.(4789-4791)gCc>gTc,7,62,0,92
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KCNC1,3746,11,17793870,17793870,Missense_Mutation,SNP,C,T,c.(1228-1230)aCg>aTg,30,159,0,207
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GTF2H1,2965,11,18387422,18387422,3'UTR,SNP,C,T,,20,55,1,113
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SPTY2D1,144108,11,18638428,18638428,Nonsense_Mutation,SNP,G,A,c.(169-171)Cga>Tga,11,40,0,108
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MRGPRX1,259249,11,18955988,18955988,Missense_Mutation,SNP,G,A,c.(343-345)gCc>gTc,10,71,0,127
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PAMR1,25891,11,35515735,35515735,Silent,SNP,G,A,c.(157-159)tgC>tgT,28,86,0,230
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FJX1,24147,11,35641035,35641035,Missense_Mutation,SNP,T,G,c.(850-852)gTg>gGg,8,183,0,315
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PEX16,9409,11,45935455,45935455,Missense_Mutation,SNP,G,A,c.(802-804)Cgg>Tgg,16,171,0,162
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GYLTL1B,120071,11,45947864,45947864,Missense_Mutation,SNP,C,T,c.(973-975)gCc>gTc,43,163,0,212
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CKAP5,9793,11,46774864,46774864,Silent,SNP,G,A,c.(5053-5055)Ctg>Ttg,6,12,0,68
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PTPRJ,5795,11,48177607,48177607,Missense_Mutation,SNP,G,A,c.(3373-3375)cGt>cAt,12,95,0,183
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,OR8H3,390152,11,55890303,55890303,Missense_Mutation,SNP,G,A,c.(454-456)gGc>gAc,11,48,0,129
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RTN4RL2,349667,11,57243966,57243966,Missense_Mutation,SNP,C,T,c.(844-846)tCc>tTc,46,146,0,167
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PTGDR2,11251,11,60620359,60620359,Silent,SNP,C,T,c.(835-837)cgG>cgA,6,117,0,102
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MYRF,745,11,61546764,61546764,Silent,SNP,C,T,c.(2041-2043)gcC>gcT,35,101,0,169
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NXF1,10482,11,62561880,62561880,Missense_Mutation,SNP,C,A,c.(1609-1611)cGg>cTg,22,81,1,92
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NXF1,10482,11,62564714,62564714,Intron,SNP,A,C,,7,90,0,234
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MEN1,4221,11,64571918,64571918,Missense_Mutation,SNP,G,T,c.(1735-1737)gCc>gAc,24,329,0,329
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MEN1,4221,11,64573750,64573750,Missense_Mutation,SNP,G,A,c.(1018-1020)Cgg>Tgg,81,286,1,375
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CDC42BPG,55561,11,64601749,64601749,Missense_Mutation,SNP,C,T,c.(2401-2403)cGa>cAa,56,189,0,155
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BATF2,116071,11,64757191,64757191,Missense_Mutation,SNP,C,T,c.(235-237)Gtg>Atg,6,324,0,315
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MRPL49,740,11,64892993,64892993,Missense_Mutation,SNP,G,A,c.(262-264)cGc>cAc,37,244,0,323
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MALAT1,378938,11,65269275,65269275,lincRNA,SNP,T,C,,4,34,0,124
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MAP3K11,4296,11,65375277,65375277,Silent,SNP,C,A,c.(307-309)gcG>gcT,13,48,0,79
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LRFN4,78999,11,66625573,66625573,Missense_Mutation,SNP,G,A,c.(358-360)Gtc>Atc,17,54,0,118
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LRFN4,78999,11,66627729,66627729,3'UTR,SNP,G,A,,5,352,0,275
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PC,5091,11,66638373,66638373,Intron,SNP,C,T,,8,354,0,390
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TCIRG1,10312,11,67818067,67818067,Missense_Mutation,SNP,A,G,c.(2350-2352)Acc>Gcc,105,372,0,541
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CPT1A,1374,11,68562287,68562287,Silent,SNP,C,T,c.(862-864)cgG>cgA,18,277,0,351
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ANO1,55107,11,70028739,70028739,Silent,SNP,C,T,c.(2533-2535)aaC>aaT,8,55,0,79
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SHANK2,22941,11,70338495,70338495,Missense_Mutation,SNP,G,A,c.(1246-1248)gCg>gTg,10,454,0,376
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SHANK2,22941,11,70753991,70753991,Intron,SNP,A,G,,5,203,0,207
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,INPPL1,3636,11,71948297,71948297,Silent,SNP,G,A,c.(3007-3009)tcG>tcA,40,197,0,203
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARAP1,116985,11,72410108,72410108,Missense_Mutation,SNP,T,C,c.(2482-2484)tAc>tGc,6,269,1,265
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FCHSD2,9873,11,72578947,72578947,Missense_Mutation,SNP,C,T,c.(1270-1272)cGc>cAc,6,89,0,152
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARHGEF17,9828,11,73022118,73022118,Missense_Mutation,SNP,G,A,c.(2434-2436)cGt>cAt,6,41,0,85
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SERPINH1,871,11,75280096,75280096,Silent,SNP,C,T,c.(832-834)ctC>ctT,8,406,1,456
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RP11-672A2.1,0,11,76423408,76423408,lincRNA,SNP,C,T,,25,192,0,202
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MSANTD4,84437,11,105880605,105880605,Missense_Mutation,SNP,C,T,c.(694-696)cGc>cAc,8,39,0,96
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TTC12,54970,11,113215128,113215128,Missense_Mutation,SNP,C,T,c.(1120-1122)Cgg>Tgg,50,196,0,168
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PHLDB1,23187,11,118521231,118521231,Missense_Mutation,SNP,C,T,c.(3853-3855)Cgc>Tgc,27,155,0,178
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DPAGT1,1798,11,118981341,118981341,5'Flank,SNP,C,T,,33,163,0,189
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MFRP,83552,11,119215587,119215587,Missense_Mutation,SNP,G,A,c.(769-771)Cgc>Tgc,79,307,0,489
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TECTA,7007,11,120996207,120996207,Missense_Mutation,SNP,A,C,c.(1399-1401)aAc>aCc,11,235,0,339
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PATE2,399967,11,125647270,125647270,3'UTR,SNP,C,T,,5,20,0,64
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RPUSD4,84881,11,126079437,126079437,Missense_Mutation,SNP,C,T,c.(535-537)cGt>cAt,13,50,0,124
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TIRAP,114609,11,126162887,126162887,Missense_Mutation,SNP,T,C,c.(583-585)Tac>Cac,10,189,0,220
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARHGAP32,9743,11,128840902,128840902,Silent,SNP,G,A,c.(4162-4164)gaC>gaT,6,260,0,184
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PRDM10,56980,11,129827726,129827726,Missense_Mutation,SNP,A,G,c.(148-150)gTg>gCg,27,95,0,141
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,OPCML,4978,11,132306603,132306603,Missense_Mutation,SNP,T,G,c.(733-735)gaA>gaC,26,82,0,156
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NCAPD3,23310,11,134027966,134027966,Intron,SNP,T,A,,8,26,0,44
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CACNA1C,775,12,2800176,2800176,Silent,SNP,C,T,c.(6370-6372)agC>agT,39,297,1,299
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CLSTN3,9746,12,7303257,7303257,Missense_Mutation,SNP,G,A,c.(2362-2364)cGt>cAt,32,145,0,190
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FOXJ2,55810,12,8192489,8192489,Nonsense_Mutation,SNP,C,T,c.(61-63)Cga>Tga,39,110,0,168
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,A2M,2,12,9251307,9251307,Missense_Mutation,SNP,C,T,c.(1747-1749)Gcc>Acc,8,324,0,200
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PRB2,653247,12,11546771,11546771,Missense_Mutation,SNP,G,C,c.(241-243)Cca>Gca,7,92,1,204
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BICD1,636,12,32481286,32481286,Missense_Mutation,SNP,C,T,c.(1897-1899)Cgg>Tgg,10,111,0,174
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARID2,196528,12,46244137,46244137,Missense_Mutation,SNP,T,C,c.(2230-2232)gTt>gCt,6,39,0,122
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARID2,196528,12,46244339,46244339,Silent,SNP,T,C,c.(2431-2433)tgT>tgC,4,68,1,177
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RAPGEF3,10411,12,48134495,48134495,Missense_Mutation,SNP,C,T,c.(2161-2163)Gag>Aag,18,346,0,260
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RAPGEF3,10411,12,48141582,48141582,Silent,SNP,C,T,c.(1384-1386)agG>agA,13,195,0,193
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RND1,27289,12,49254798,49254798,Silent,SNP,C,T,c.(433-435)gcG>gcA,54,272,0,312
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KMT2D,8085,12,49428068,49428068,Missense_Mutation,SNP,G,A,c.(10522-10524)Cgg>Tgg,6,55,0,137
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C1QL4,338761,12,49729784,49729784,Silent,SNP,G,A,c.(475-477)caC>caT,9,502,1,409
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DIP2B,57609,12,51072587,51072587,Missense_Mutation,SNP,A,G,c.(1042-1044)Acc>Gcc,89,259,0,370
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KRT83,3889,12,52711471,52711471,Silent,SNP,G,A,c.(742-744)taC>taT,70,343,0,399
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KRT6A,3853,12,52881689,52881689,Missense_Mutation,SNP,C,T,c.(1510-1512)Ggc>Agc,6,461,1,519
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PCBP2,5094,12,53858593,53858593,Missense_Mutation,SNP,C,T,c.(640-642)cCg>cTg,37,168,0,221
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HOXC4,3221,12,54448840,54448840,Nonsense_Mutation,SNP,C,T,c.(646-648)Cga>Tga,49,158,0,256
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ITGA5,3678,12,54799106,54799106,Missense_Mutation,SNP,C,T,c.(1069-1071)Ggg>Agg,31,167,0,127
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SUOX,6821,12,56397613,56397613,Missense_Mutation,SNP,A,C,c.(439-441)cAt>cCt,6,109,0,160
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SMARCC2,6601,12,56565060,56565060,Missense_Mutation,SNP,C,T,c.(2248-2250)cGg>cAg,4,86,0,144
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ANKRD52,283373,12,56641903,56641903,Missense_Mutation,SNP,G,A,c.(1882-1884)Cgc>Tgc,86,439,0,490
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,STAT6,6778,12,57501480,57501480,Missense_Mutation,SNP,C,A,c.(163-165)Gcc>Tcc,32,213,0,196
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LRP1,4035,12,57573921,57573921,Missense_Mutation,SNP,G,A,c.(5233-5235)Gtg>Atg,25,149,0,146
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,INHBC,3626,12,57828788,57828788,Missense_Mutation,SNP,G,A,c.(118-120)cGg>cAg,13,322,0,303
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARHGAP9,64333,12,57872994,57872994,Missense_Mutation,SNP,G,A,c.(196-198)Cgc>Tgc,66,293,0,449
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MARS,4141,12,57884404,57884404,Silent,SNP,G,A,c.(745-747)ccG>ccA,5,247,0,250
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARHGEF25,115557,12,58010285,58010285,Intron,SNP,C,T,,18,55,0,135
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ACSS3,79611,12,81536905,81536905,Missense_Mutation,SNP,C,T,c.(799-801)cCc>cTc,3,38,0,77
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ANO4,121601,12,101295493,101295493,5'UTR,SNP,G,A,,5,302,0,178
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PAH,5053,12,103246613,103246613,Silent,SNP,C,T,c.(820-822)aaG>aaA,14,316,0,438
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TXNRD1,7296,12,104732997,104732997,Silent,SNP,A,G,c.(1261-1263)ggA>ggG,4,139,0,198
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FBXW8,26259,12,117462000,117462000,Silent,SNP,C,T,c.(1414-1416)tcC>tcT,46,161,0,184
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TAOK3,51347,12,118619406,118619406,Nonsense_Mutation,SNP,G,A,c.(1336-1338)Cga>Tga,22,86,0,171
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CIT,11113,12,120138584,120138584,Silent,SNP,G,A,c.(5461-5463)gaC>gaT,40,187,0,229
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C12orf43,64897,12,121442890,121442890,Missense_Mutation,SNP,C,T,c.(367-369)cGc>cAc,6,38,0,44
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ANAPC5,51433,12,121773499,121773499,Missense_Mutation,SNP,G,A,c.(787-789)Cgt>Tgt,3,25,0,42
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MLXIP,22877,12,122618522,122618522,Missense_Mutation,SNP,C,T,c.(1720-1722)Cgt>Tgt,5,39,0,41
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ABCB9,23457,12,123435021,123435021,Silent,SNP,G,A,c.(691-693)atC>atT,25,78,0,82
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ULK1,8408,12,132401026,132401026,Silent,SNP,G,A,c.(1960-1962)acG>acA,10,220,0,193
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EP400,57634,12,132474652,132474652,Intron,SNP,G,A,,14,28,0,61
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ANKLE2,23141,12,133306683,133306683,Missense_Mutation,SNP,C,T,c.(2065-2067)Gcc>Acc,5,93,0,74
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RNF17,56163,13,25451148,25451148,Missense_Mutation,SNP,C,T,c.(4597-4599)Cct>Tct,5,25,0,85
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CENPJ,55835,13,25473571,25473571,Missense_Mutation,SNP,G,A,c.(2977-2979)Cgt>Tgt,8,24,0,85
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CDK8,1024,13,26828867,26828867,Missense_Mutation,SNP,G,A,c.(88-90)gGc>gAc,30,166,0,131
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC7A1,6541,13,30097463,30097463,Missense_Mutation,SNP,A,G,c.(988-990)gTg>gCg,52,197,0,280
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MEDAG,84935,13,31480695,31480695,Missense_Mutation,SNP,A,C,c.(43-45)Acc>Ccc,6,120,0,101
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SMAD9,4093,13,37453453,37453453,Missense_Mutation,SNP,C,A,c.(373-375)tGc>tTc,25,71,0,128
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FREM2,341640,13,39266156,39266156,Missense_Mutation,SNP,G,A,c.(4675-4677)Gaa>Aaa,12,57,1,202
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DGKH,160851,13,42761187,42761187,Missense_Mutation,SNP,C,T,c.(1540-1542)aCg>aTg,7,41,0,91
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DLEU7,220107,13,51417426,51417426,Silent,SNP,G,A,c.(355-357)agC>agT,4,76,0,86
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DIAPH3,81624,13,60240797,60240797,Missense_Mutation,SNP,G,A,c.(3502-3504)aCg>aTg,19,120,0,226
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PCDH20,64881,13,61987430,61987430,Missense_Mutation,SNP,G,A,c.(802-804)Cgc>Tgc,12,87,0,160
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MYCBP2,23077,13,77817251,77817251,Nonsense_Mutation,SNP,G,A,c.(2458-2460)Cga>Tga,14,104,0,242
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IRS2,8660,13,110434475,110434475,Missense_Mutation,SNP,G,A,c.(3925-3927)cCg>cTg,32,181,0,202
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IRS2,8660,13,110435276,110435276,Missense_Mutation,SNP,T,C,c.(3124-3126)tAc>tGc,8,202,0,119
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,COL4A2,1284,13,111109497,111109497,Intron,SNP,C,T,,7,356,0,369
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SOX1,6656,13,112723110,112723110,Missense_Mutation,SNP,G,A,c.(1138-1140)Gcg>Acg,11,85,0,31
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MCF2L,23263,13,113729502,113729502,Splice_Site,SNP,C,T,c.(1396-1398)aCg>aTg,8,40,0,50
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,OR4M1,441670,14,20248960,20248960,Missense_Mutation,SNP,T,C,c.(478-480)gTg>gCg,5,334,1,882
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF219,51222,14,21559262,21559262,Silent,SNP,C,T,c.(1600-1602)gcG>gcA,77,301,0,346
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LRP10,26020,14,23345381,23345381,Silent,SNP,C,T,c.(1222-1224)gaC>gaT,75,408,1,484
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C14orf119,55017,14,23571385,23571385,IGR,SNP,C,T,,5,194,0,202
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EFS,10278,14,23826575,23826575,Missense_Mutation,SNP,G,A,c.(1546-1548)Cgg>Tgg,15,125,0,151
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DCAF11,80344,14,24592390,24592390,Missense_Mutation,SNP,G,A,c.(1513-1515)Ggg>Agg,3,42,0,62
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RABGGTA,5875,14,24735666,24735666,Missense_Mutation,SNP,G,A,c.(1525-1527)Cgg>Tgg,47,186,0,192
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FSCB,84075,14,44974370,44974370,Silent,SNP,A,G,c.(1819-1821)ccT>ccC,5,305,0,297
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DACT1,51339,14,59113103,59113103,Missense_Mutation,SNP,G,A,c.(1762-1764)Ggc>Agc,27,145,0,185
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PCNXL4,64430,14,60587959,60587959,Missense_Mutation,SNP,G,A,c.(1987-1989)cGt>cAt,8,71,0,164
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC38A6,145389,14,61512104,61512104,Missense_Mutation,SNP,G,A,c.(784-786)tGc>tAc,12,62,0,148
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SYNE2,23224,14,64681058,64681058,Silent,SNP,C,T,c.(19201-19203)caC>caT,7,278,0,300
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SIPA1L1,26037,14,72139178,72139178,Silent,SNP,T,C,c.(2941-2943)ggT>ggC,89,389,0,421
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZFYVE1,53349,14,73444714,73444714,Missense_Mutation,SNP,C,T,c.(1555-1557)cGt>cAt,9,106,0,189
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TGFB3,7043,14,76446963,76446963,Missense_Mutation,SNP,T,C,c.(274-276)Acc>Gcc,22,85,0,157
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SERPINA4,5267,14,95030071,95030071,Silent,SNP,G,A,c.(250-252)gcG>gcA,23,385,0,349
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC25A47,283600,14,100795077,100795077,Silent,SNP,G,A,c.(340-342)tcG>tcA,91,315,0,463
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BEGAIN,57596,14,101005543,101005543,Missense_Mutation,SNP,A,G,c.(544-546)gTc>gCc,14,24,0,50
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TECPR2,9895,14,102965210,102965210,3'UTR,SNP,C,T,,4,74,0,102
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,XRCC3,7517,14,104173439,104173439,Missense_Mutation,SNP,T,C,c.(307-309)Act>Gct,116,445,0,599
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CEP170B,283638,14,105349422,105349422,Missense_Mutation,SNP,G,A,c.(628-630)Gcc>Acc,8,52,0,58
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CEP170B,283638,14,105351749,105351749,Missense_Mutation,SNP,C,T,c.(1813-1815)tCg>tTg,14,125,0,166
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,AHNAK2,113146,14,105422955,105422955,Silent,SNP,T,G,c.(283-285)tcA>tcC,6,200,1,180
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,JAG2,3714,14,105618086,105618086,Intron,SNP,C,T,,15,368,0,350
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BTBD6,90135,14,105716325,105716325,Silent,SNP,G,A,c.(772-774)gcG>gcA,38,161,0,212
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BTBD6,90135,14,105716383,105716383,Nonsense_Mutation,SNP,C,T,c.(832-834)Cga>Tga,8,191,0,226
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C14orf80,283643,14,105963744,105963744,Silent,SNP,G,A,c.(940-942)gcG>gcA,59,292,0,298
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IGHV1-3,28473,14,106471305,106471305,RNA,SNP,C,T,,23,280,0,471
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CYFIP1,23191,15,22993120,22993120,Missense_Mutation,SNP,G,A,c.(3007-3009)Gcc>Acc,6,160,1,166
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CYFIP1,23191,15,22997828,22997828,Missense_Mutation,SNP,C,T,c.(3073-3075)gCg>gTg,45,177,0,209
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SNHG14,0,15,25325349,25325349,RNA,SNP,T,G,,6,174,0,296
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SNHG14,0,15,25457006,25457006,RNA,SNP,A,G,,19,161,0,280
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ATP10A,57194,15,25959072,25959072,Missense_Mutation,SNP,G,A,c.(2092-2094)cCg>cTg,13,263,1,367
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,OCA2,4948,15,28326954,28326954,Missense_Mutation,SNP,A,C,c.(67-69)Tcc>Gcc,24,519,1,539
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RP11-16E12.1,0,15,31515852,31515852,lincRNA,SNP,C,T,,15,18,0,60
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MEIS2,4212,15,37329106,37329106,Missense_Mutation,SNP,G,A,c.(808-810)cCg>cTg,18,116,0,167
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PLCB2,5330,15,40584638,40584638,Missense_Mutation,SNP,T,C,c.(2332-2334)cAc>cGc,8,73,0,74
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RPAP1,26015,15,41813062,41813062,Missense_Mutation,SNP,G,A,c.(3322-3324)Cgc>Tgc,4,142,0,148
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RPAP1,26015,15,41828393,41828393,Silent,SNP,G,A,c.(352-354)gcC>gcT,8,178,0,193
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EHD4,30844,15,42211400,42211400,Intron,SNP,T,A,,48,255,0,238
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EHD4,30844,15,42211529,42211529,Missense_Mutation,SNP,G,A,c.(802-804)aCg>aTg,5,184,0,182
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,VPS39,23339,15,42454577,42454577,Missense_Mutation,SNP,C,T,c.(2311-2313)Gct>Act,11,88,0,78
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TGM7,116179,15,43574118,43574118,Silent,SNP,G,A,c.(1273-1275)atC>atT,6,250,0,297
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DUOX2,50506,15,45388190,45388190,Missense_Mutation,SNP,C,T,c.(3916-3918)Gcc>Acc,19,418,1,445
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FBN1,2200,15,48712984,48712984,Silent,SNP,A,G,c.(7717-7719)ggT>ggC,13,265,0,368
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MYO5C,55930,15,52534304,52534304,Missense_Mutation,SNP,C,T,c.(2497-2499)Gcc>Acc,18,78,0,114
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RFX7,64864,15,56386567,56386567,Missense_Mutation,SNP,C,T,c.(3067-3069)cGt>cAt,4,90,0,200
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TLN2,83660,15,63088454,63088454,Silent,SNP,G,A,c.(6010-6012)acG>acA,7,142,0,154
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TPM1,7168,15,63353107,63353107,Missense_Mutation,SNP,C,T,c.(532-534)Cgt>Tgt,6,247,1,243
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HERC1,8925,15,63933831,63933831,Silent,SNP,G,A,c.(11443-11445)gtC>gtT,6,34,0,82
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SMAD6,4091,15,67073580,67073580,Missense_Mutation,SNP,G,A,c.(1198-1200)Gtg>Atg,6,330,0,319
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LRRC49,54839,15,71190772,71190772,Intron,SNP,G,A,,4,44,0,71
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,THSD4,79875,15,71507472,71507472,Silent,SNP,G,A,c.(196-198)tcG>tcA,52,167,0,84
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MYO9A,4649,15,72122592,72122592,Silent,SNP,A,G,c.(6898-6900)Ttg>Ctg,9,66,0,146
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,STOML1,9399,15,74281035,74281035,Missense_Mutation,SNP,G,A,c.(499-501)Cgc>Tgc,34,187,0,191
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PML,5371,15,74290400,74290400,Missense_Mutation,SNP,C,T,c.(184-186)gCg>gTg,49,156,0,208
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,STRA6,64220,15,74481563,74481563,Missense_Mutation,SNP,C,A,c.(982-984)gGg>gTg,21,448,0,467
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,STRA6,64220,15,74487707,74487707,Missense_Mutation,SNP,G,A,c.(532-534)aCg>aTg,12,394,0,382
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CHRNB4,1143,15,78921643,78921643,Missense_Mutation,SNP,C,T,c.(1003-1005)cGc>cAc,16,52,0,110
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ALPK3,57538,15,85406026,85406026,Silent,SNP,C,T,c.(4894-4896)taC>taT,19,301,0,290
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HAPLN3,145864,15,89424753,89424753,Missense_Mutation,SNP,G,A,c.(328-330)Cgc>Tgc,18,231,0,241
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MFGE8,4240,15,89442655,89442655,Missense_Mutation,SNP,C,T,c.(1135-1137)Gcc>Acc,8,358,0,319
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PLIN1,5346,15,90208828,90208828,Missense_Mutation,SNP,G,T,c.(1555-1557)Cgc>Agc,8,232,0,171
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,WDR93,56964,15,90270452,90270452,Silent,SNP,C,T,c.(943-945)tcC>tcT,22,118,0,170
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ANPEP,290,15,90347789,90347789,Silent,SNP,G,A,c.(955-957)aaC>aaT,5,196,0,154
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ANPEP,290,15,90349592,90349592,Missense_Mutation,SNP,G,A,c.(223-225)Cgc>Tgc,23,139,0,183
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CRTC3,64784,15,91162991,91162991,Missense_Mutation,SNP,C,T,c.(718-720)Cgc>Tgc,24,115,0,249
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CRTC3,64784,15,91172566,91172566,Silent,SNP,C,T,c.(1066-1068)aaC>aaT,6,460,0,408
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,UNC45A,55898,15,91491397,91491397,Missense_Mutation,SNP,G,A,c.(1621-1623)Gca>Aca,6,250,0,198
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLCO3A1,28232,15,92706050,92706050,Silent,SNP,G,A,c.(1816-1818)acG>acA,20,144,0,165
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MPG,4350,16,135641,135641,Silent,SNP,G,A,c.(760-762)ccG>ccA,5,29,0,54
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RAB11FIP3,9727,16,532548,532548,Silent,SNP,G,A,c.(925-927)gcG>gcA,28,133,0,214
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PIGQ,9091,16,631194,631194,Intron,SNP,C,T,,6,6,0,21
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CCDC78,124093,16,774755,774755,Missense_Mutation,SNP,G,A,c.(691-693)Cgg>Tgg,14,243,0,192
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HAGHL,84264,16,779345,779345,3'UTR,SNP,G,A,,5,134,0,180
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NARFL,64428,16,787242,787242,Missense_Mutation,SNP,C,T,c.(250-252)Gtg>Atg,84,320,0,302
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LMF1,64788,16,921338,921338,Missense_Mutation,SNP,C,T,c.(901-903)Gtc>Atc,30,108,0,115
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SSTR5,6755,16,1129320,1129320,Missense_Mutation,SNP,G,A,c.(451-453)cGc>cAc,14,75,0,101
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,UNKL,64718,16,1444178,1444178,Silent,SNP,G,A,c.(880-882)acC>acT,6,240,0,196
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SPSB3,90864,16,1827945,1827945,Splice_Site,SNP,A,G,c.e5+1,29,112,0,166
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TSC2,7249,16,2121856,2121856,Missense_Mutation,SNP,C,T,c.(2017-2019)gCg>gTg,7,148,0,163
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PKD1,5310,16,2152873,2152873,Missense_Mutation,SNP,G,A,c.(8890-8892)Cgc>Tgc,7,439,0,461
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MLST8,64223,16,2258253,2258253,Missense_Mutation,SNP,G,A,c.(616-618)Gag>Aag,13,35,0,44
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ABCA3,21,16,2326767,2326767,Missense_Mutation,SNP,C,T,c.(5023-5025)Gtg>Atg,5,301,0,313
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NTN3,4917,16,2522360,2522360,Missense_Mutation,SNP,G,A,c.(658-660)Gtc>Atc,16,132,0,147
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLX4,84464,16,3639583,3639583,Silent,SNP,C,T,c.(4054-4056)ccG>ccA,12,58,0,99
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CREBBP,1387,16,3778604,3778604,Silent,SNP,G,A,c.(6442-6444)ggC>ggT,7,142,0,196
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GLIS2,84662,16,4387223,4387223,Missense_Mutation,SNP,G,A,c.(1273-1275)Gga>Aga,83,377,0,377
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PAM16,51025,16,4393261,4393261,Missense_Mutation,SNP,C,G,c.(34-36)gGc>gCc,58,241,1,300
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NMRAL1,57407,16,4513722,4513722,Missense_Mutation,SNP,G,A,c.(658-660)aCg>aTg,109,408,0,426
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PPL,5493,16,4940241,4940241,Missense_Mutation,SNP,C,T,c.(2257-2259)Gag>Aag,5,283,0,250
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C16orf89,146556,16,5094662,5094662,Silent,SNP,A,G,c.(1129-1131)caT>caC,5,89,0,156
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C16orf89,146556,16,5094671,5094671,Silent,SNP,T,C,c.(1120-1122)acA>acG,4,73,0,131
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FAM86A,196483,16,5147735,5147735,Silent,SNP,C,T,c.(4-6)gcG>gcA,33,172,0,246
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ABAT,18,16,8851662,8851662,Splice_Site,SNP,C,T,c.(364-366)gCg>gTg,59,231,1,462
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ABAT,18,16,8866717,8866717,Silent,SNP,T,C,c.(895-897)ggT>ggC,14,397,1,507
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,USP7,7874,16,8989547,8989547,Silent,SNP,T,C,c.(2869-2871)gaA>gaG,17,81,1,177
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CIITA,4261,16,11000785,11000785,Missense_Mutation,SNP,C,T,c.(1435-1437)gCg>gTg,74,261,0,313
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PARN,5073,16,14645960,14645960,Intron,SNP,C,T,,8,28,0,63
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PLK1,5347,16,23703355,23703355,IGR,SNP,G,A,,37,97,0,210
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ATXN2L,11273,16,28840772,28840772,Silent,SNP,C,T,c.(790-792)taC>taT,7,58,0,137
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MVP,9961,16,29845368,29845368,Silent,SNP,C,T,c.(556-558)gaC>gaT,70,183,0,245
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FBRS,64319,16,30675665,30675665,5'Flank,SNP,G,A,,10,21,0,35
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PHKG2,5261,16,30767704,30767704,Missense_Mutation,SNP,A,T,c.(664-666)Atc>Ttc,33,266,0,444
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,STX1B,112755,16,31012433,31012433,Missense_Mutation,SNP,C,T,c.(187-189)Gca>Aca,59,176,0,255
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARMC5,79798,16,31475858,31475858,Missense_Mutation,SNP,G,A,c.(1513-1515)cGc>cAc,10,314,1,251
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,Unknown,0,16,33786230,33786230,IGR,SNP,C,T,,14,91,0,159
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LONP2,83752,16,48337147,48337147,Missense_Mutation,SNP,G,A,c.(1726-1728)Gcc>Acc,5,126,0,184
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ADCY7,113,16,50349412,50349412,Missense_Mutation,SNP,A,G,c.(3238-3240)aAc>aGc,9,37,0,46
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SNX20,124460,16,50707379,50707379,Missense_Mutation,SNP,G,A,c.(889-891)Cgg>Tgg,21,74,0,73
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC12A3,6559,16,56914051,56914051,Missense_Mutation,SNP,G,A,c.(1453-1455)Gag>Aag,6,399,0,376
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CDH16,1014,16,66944389,66944389,Silent,SNP,G,A,c.(1939-1941)agC>agT,4,5,0,13
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C16orf70,80262,16,67183642,67183642,IGR,SNP,C,T,,26,120,0,146
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FBXL8,55336,16,67197342,67197342,Silent,SNP,C,A,c.(742-744)cgC>cgA,20,613,0,513
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,E2F4,1874,16,67229826,67229826,Missense_Mutation,SNP,G,A,c.(949-951)aGc>aAc,48,617,0,483
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC9A5,6553,16,67290849,67290849,Missense_Mutation,SNP,C,T,c.(1168-1170)Cgg>Tgg,5,108,0,115
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC9A5,6553,16,67304827,67304827,Missense_Mutation,SNP,C,T,c.(2404-2406)gCg>gTg,26,51,0,92
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PLEKHG4,25894,16,67318930,67318930,Silent,SNP,C,T,c.(2005-2007)caC>caT,21,323,0,410
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZDHHC1,29800,16,67432549,67432549,Silent,SNP,G,A,c.(739-741)gcC>gcT,13,226,0,218
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HSD11B2,3291,16,67469623,67469623,Missense_Mutation,SNP,G,A,c.(358-360)Ggt>Agt,19,557,0,633
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TSNAXIP1,55815,16,67857572,67857572,Missense_Mutation,SNP,C,T,c.(268-270)aCg>aTg,4,67,0,121
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DPEP2,64174,16,68025828,68025828,Missense_Mutation,SNP,G,A,c.(574-576)tCg>tTg,19,117,0,146
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,VPS4A,27183,16,69355080,69355080,Silent,SNP,G,A,c.(976-978)acG>acA,59,512,0,457
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IL34,146433,16,70690999,70690999,Missense_Mutation,SNP,T,C,c.(376-378)cTg>cCg,10,121,0,98
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DHX38,9785,16,72142456,72142456,Missense_Mutation,SNP,G,A,c.(3205-3207)Gtc>Atc,6,168,0,196
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZFHX3,463,16,72832279,72832279,Silent,SNP,A,G,c.(4300-4302)tgT>tgC,26,131,0,226
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ADAMTS18,170692,16,77401347,77401347,Missense_Mutation,SNP,G,A,c.(769-771)Cgc>Tgc,15,93,0,228
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PKD1L2,114780,16,81236190,81236190,RNA,SNP,C,A,,20,495,1,408
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IRF8,3394,16,85936644,85936644,Missense_Mutation,SNP,G,A,c.(22-24)cGg>cAg,7,176,0,247
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BANP,54971,16,88105534,88105534,Intron,SNP,C,T,,7,25,0,85
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,APRT,353,16,88873700,88873700,IGR,SNP,G,T,,5,328,0,291
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,Unknown,0,16,89299843,89299843,IGR,SNP,C,T,,13,374,0,413
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF276,92822,16,89790056,89790056,Silent,SNP,C,T,c.(943-945)gaC>gaT,35,107,1,172
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C17orf97,400566,17,263156,263156,Silent,SNP,A,T,c.(520-522)ggA>ggT,35,270,0,379
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,WDR81,124997,17,1629631,1629631,Missense_Mutation,SNP,C,T,c.(1378-1380)Cgg>Tgg,12,38,0,58
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RTN4RL1,146760,17,1840266,1840266,Missense_Mutation,SNP,A,T,c.(850-852)Tcc>Acc,12,190,0,190
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TRPV3,162514,17,3436061,3436061,Missense_Mutation,SNP,G,A,c.(955-957)Cgc>Tgc,11,355,0,363
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PELP1,27043,17,4574979,4574979,Intron,SNP,C,T,,3,9,0,23
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SPAG7,9552,17,4863039,4863039,Intron,SNP,C,A,,18,209,0,267
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CAMTA2,23125,17,4883874,4883874,Missense_Mutation,SNP,C,T,c.(742-744)cGc>cAc,5,210,0,225
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TEKT1,83659,17,6733612,6733612,Silent,SNP,G,A,c.(82-84)gaC>gaT,6,145,0,199
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FXR2,9513,17,7499155,7499155,Missense_Mutation,SNP,C,T,c.(817-819)cGc>cAc,21,68,0,99
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FXR2,9513,17,7504780,7504780,Missense_Mutation,SNP,G,A,c.(607-609)Cgc>Tgc,23,69,0,125
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DNAH2,146754,17,7646845,7646845,Intron,SNP,G,A,,3,6,0,13
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CCDC42,146849,17,8638727,8638727,Missense_Mutation,SNP,C,T,c.(694-696)cGc>cAc,37,121,1,174
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MYH4,4622,17,10351982,10351982,Missense_Mutation,SNP,G,C,c.(4483-4485)tCc>tGc,15,66,0,125
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MYH3,4621,17,10555811,10555811,Missense_Mutation,SNP,C,T,c.(274-276)Gcc>Acc,55,165,1,253
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NCOR1,9611,17,16040642,16040642,Missense_Mutation,SNP,G,A,c.(1492-1494)Cgc>Tgc,6,100,0,190
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MPRIP,23164,17,17069852,17069852,Intron,SNP,C,T,,23,86,0,136
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RAI1,10743,17,17699276,17699276,Missense_Mutation,SNP,G,A,c.(3013-3015)cGg>cAg,7,54,0,86
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SHMT1,6470,17,18232123,18232123,Missense_Mutation,SNP,G,A,c.(1393-1395)Cgg>Tgg,9,145,0,240
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,AC007952.5,0,17,18996905,18996905,Silent,SNP,G,A,c.(193-195)ccG>ccA,11,535,0,876
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EPN2,22905,17,19232166,19232166,Silent,SNP,C,T,c.(1288-1290)ggC>ggT,22,86,0,81
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TMEM199,147007,17,26684799,26684799,Missense_Mutation,SNP,G,A,c.(106-108)Gcc>Acc,108,445,0,442
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KIAA0100,9703,17,26965393,26965393,Silent,SNP,G,A,c.(1387-1389)ggC>ggT,8,213,0,162
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RFFL,117584,17,33348627,33348627,Missense_Mutation,SNP,G,C,c.(352-354)atC>atG,5,208,0,219
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,Unknown,0,17,34097171,34097171,IGR,SNP,G,A,,5,293,0,256
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MLLT6,4302,17,36868236,36868236,Missense_Mutation,SNP,A,G,c.(688-690)cAc>cGc,12,35,0,43
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CACNB1,782,17,37333593,37333593,Intron,SNP,G,T,,55,218,0,211
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RARA,5914,17,38510665,38510665,Missense_Mutation,SNP,G,A,c.(919-921)Gac>Aac,7,393,0,310
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RARA,5914,17,38512541,38512541,3'UTR,SNP,G,A,,6,169,0,166
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CCR7,1236,17,38711170,38711170,Missense_Mutation,SNP,C,T,c.(961-963)Gtc>Atc,7,293,0,256
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KRT12,3859,17,39019463,39019463,Missense_Mutation,SNP,C,T,c.(1228-1230)Gtg>Atg,46,156,0,214
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KRTAP4-2,85291,17,39334100,39334100,Missense_Mutation,SNP,C,T,c.(316-318)gGc>gAc,41,301,0,317
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KRT33A,3883,17,39506776,39506776,Missense_Mutation,SNP,C,T,c.(244-246)Gcg>Acg,7,377,0,337
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KRT31,3881,17,39551321,39551321,Splice_Site,SNP,C,T,c.e6-1,25,78,0,134
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PLEKHH3,79990,17,40821588,40821588,Missense_Mutation,SNP,C,T,c.(2065-2067)Gcc>Acc,6,145,0,130
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,AOC2,314,17,40996907,40996907,Silent,SNP,G,A,c.(262-264)tcG>tcA,5,56,0,89
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MPP3,4356,17,41891379,41891379,Splice_Site,SNP,G,A,c.(1255-1257)Cat>Tat,5,59,1,57
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC4A1,6521,17,42334912,42334912,Splice_Site,SNP,A,G,c.(1432-1434)Ttc>Ctc,34,284,1,311
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HOXB8,3218,17,46690756,46690756,Silent,SNP,C,T,c.(538-540)tcG>tcA,6,198,0,284
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PHB,5245,17,47482387,47482387,Silent,SNP,C,T,c.(784-786)gcG>gcA,6,275,0,304
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PPP1R9B,84687,17,48218635,48218635,Splice_Site,SNP,G,A,c.(1723-1725)Cgg>Tgg,18,167,1,157
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,COL1A1,1277,17,48269899,48269899,Intron,SNP,G,A,,6,233,0,360
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KIF2B,84643,17,51900467,51900467,Missense_Mutation,SNP,G,A,c.(73-75)Gac>Aac,6,184,0,213
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KIF2B,84643,17,51901222,51901222,Silent,SNP,C,T,c.(826-828)aaC>aaT,9,102,0,184
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ANKFN1,162282,17,54588153,54588153,Silent,SNP,C,T,c.(2971-2973)tcC>tcT,21,238,0,313
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BZRAP1,9256,17,56408688,56408688,5'Flank,SNP,C,T,,5,320,0,338
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RNF43,54894,17,56435249,56435249,Missense_Mutation,SNP,A,T,c.(1888-1890)Tcc>Acc,35,105,0,106
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,4-Sep,5414,17,56598657,56598657,Missense_Mutation,SNP,G,A,c.(1072-1074)Cgg>Tgg,9,254,0,322
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TEX14,56155,17,56658962,56658962,Intron,SNP,C,T,,4,102,0,206
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TRIM37,4591,17,57057810,57057810,IGR,SNP,C,T,,15,133,1,237
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TBX4,9496,17,59557574,59557574,Silent,SNP,C,T,c.(913-915)caC>caT,8,461,1,435
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,10-Mar,162333,17,60814589,60814589,Missense_Mutation,SNP,C,T,c.(640-642)Gcc>Acc,14,136,0,324
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FTSJ3,117246,17,61901515,61901515,Silent,SNP,T,C,c.(1081-1083)gaA>gaG,17,126,0,162
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SDK2,54549,17,71334943,71334943,Missense_Mutation,SNP,C,T,c.(6301-6303)aGc>aAc,46,176,0,272
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KIF19,124602,17,72324591,72324591,Missense_Mutation,SNP,G,A,c.(67-69)Gtg>Atg,60,256,0,262
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GRIN2C,2905,17,72840467,72840467,Missense_Mutation,SNP,C,T,c.(2530-2532)cGc>cAc,63,267,0,320
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,UNC13D,201294,17,73839274,73839274,Missense_Mutation,SNP,G,A,c.(226-228)aCg>aTg,58,208,0,258
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ACOX1,51,17,73945842,73945842,Missense_Mutation,SNP,T,G,c.(1435-1437)Agc>Cgc,76,225,0,386
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TMC6,11322,17,76121868,76121868,Silent,SNP,G,A,c.(367-369)tcC>tcT,65,237,0,267
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DNAH17,8632,17,76490205,76490205,Silent,SNP,G,A,c.(6304-6306)ttC>ttT,36,172,0,171
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CBX8,57332,17,77768488,77768488,Silent,SNP,G,A,c.(1114-1116)acC>acT,11,41,1,58
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CCDC40,55036,17,78058620,78058620,Missense_Mutation,SNP,G,A,c.(2068-2070)Gca>Aca,6,303,0,279
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF750,79755,17,80790313,80790313,Silent,SNP,C,T,c.(16-18)gaG>gaA,7,164,0,209
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DLGAP1,9229,18,3582017,3582017,Silent,SNP,G,A,c.(1819-1821)aaC>aaT,6,310,0,312
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EPB41L3,23136,18,5394733,5394733,Missense_Mutation,SNP,T,G,c.(3211-3213)aaA>aaC,9,66,0,120
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TMEM200C,645369,18,5892029,5892029,Missense_Mutation,SNP,C,T,c.(34-36)Gcc>Acc,13,90,0,89
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LAMA1,284217,18,7007217,7007217,Missense_Mutation,SNP,C,T,c.(4180-4182)cGc>cAc,24,174,0,194
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LAMA1,284217,18,7007269,7007269,Missense_Mutation,SNP,C,T,c.(4129-4131)Gcc>Acc,16,63,0,98
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PIEZO2,63895,18,10757994,10757994,Missense_Mutation,SNP,T,G,c.(3820-3822)aAc>aCc,4,61,1,97
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MPPE1,65258,18,11884615,11884615,Silent,SNP,C,T,c.(1018-1020)acG>acA,4,42,0,126
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CEP192,55125,18,13015454,13015454,Intron,SNP,C,T,,5,84,0,141
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MIB1,57534,18,19444592,19444592,Missense_Mutation,SNP,C,T,c.(2986-2988)Cgc>Tgc,14,65,0,99
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NPC1,4864,18,21148914,21148914,Silent,SNP,T,C,c.(334-336)acA>acG,14,78,0,148
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DSC3,1825,18,28605760,28605760,Missense_Mutation,SNP,C,T,c.(595-597)cGg>cAg,5,122,0,212
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SIGLEC15,284266,18,43418708,43418708,Silent,SNP,G,A,c.(520-522)tcG>tcA,27,240,0,263
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TCEB3B,51224,18,44559910,44559910,Missense_Mutation,SNP,C,T,c.(1726-1728)Gca>Aca,17,105,0,245
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CTIF,9811,18,46343699,46343699,Silent,SNP,C,T,c.(1477-1479)ggC>ggT,34,201,0,160
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RTTN,25914,18,67869143,67869143,Silent,SNP,C,T,c.(472-474)ccG>ccA,6,70,0,149
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SALL3,27164,18,76754132,76754132,Missense_Mutation,SNP,G,A,c.(2140-2142)cGc>cAc,12,257,0,219
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KCNG2,26251,18,77659236,77659236,Missense_Mutation,SNP,C,T,c.(820-822)cCg>cTg,25,75,0,94
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PQLC1,80148,18,77679345,77679345,Silent,SNP,G,A,c.(445-447)tgC>tgT,9,572,0,446
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MIER2,54531,19,327158,327158,Silent,SNP,G,A,c.(466-468)tcC>tcT,4,71,0,102
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TPGS1,91978,19,519179,519179,Missense_Mutation,SNP,C,T,c.(628-630)gCc>gTc,12,189,0,169
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BSG,682,19,578093,578093,Silent,SNP,C,T,c.(385-387)cgC>cgT,10,40,0,73
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MED16,10025,19,875321,875321,Missense_Mutation,SNP,C,T,c.(1693-1695)cGc>cAc,59,260,0,261
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C19orf25,148223,19,1482418,1482418,5'Flank,SNP,G,A,,36,338,0,291
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PCSK4,54760,19,1486904,1486904,Missense_Mutation,SNP,G,T,c.(1015-1017)gCc>gAc,5,224,0,198
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ADAT3,113179,19,1912819,1912819,Missense_Mutation,SNP,A,G,c.(724-726)gAc>gGc,7,169,0,166
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CSNK1G2,1455,19,1980239,1980239,3'UTR,SNP,C,T,,16,105,0,91
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LMNB2,84823,19,2435085,2435085,Missense_Mutation,SNP,C,T,c.(709-711)Gca>Aca,6,357,1,362
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LMNB2,84823,19,2438511,2438511,Silent,SNP,G,A,c.(358-360)ggC>ggT,34,127,0,149
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KDM4B,23030,19,5114210,5114210,Intron,SNP,G,A,,6,408,1,450
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PTPRS,5802,19,5212403,5212403,Missense_Mutation,SNP,G,A,c.(4714-4716)Cgg>Tgg,49,197,0,222
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DUS3L,56931,19,5790274,5790274,Silent,SNP,G,A,c.(169-171)acC>acT,18,324,0,290
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GTF2F1,2962,19,6389614,6389614,Missense_Mutation,SNP,A,T,c.(166-168)aTc>aAc,15,160,0,146
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,INSR,3643,19,7117217,7117217,Silent,SNP,C,T,c.(3997-3999)tcG>tcA,28,95,0,187
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,INSR,3643,19,7132295,7132295,Missense_Mutation,SNP,C,T,c.(2716-2718)Gct>Act,11,279,0,314
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,STXBP2,6813,19,7711153,7711153,Missense_Mutation,SNP,C,T,c.(1375-1377)Cgg>Tgg,9,169,0,215
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CLEC4M,10332,19,7833821,7833821,Missense_Mutation,SNP,G,A,c.(1147-1149)Gtt>Att,21,87,0,135
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PRAM1,84106,19,8563478,8563478,Missense_Mutation,SNP,G,A,c.(1213-1215)cCg>cTg,33,84,0,112
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ADAMTS10,81794,19,8670523,8670523,Missense_Mutation,SNP,C,T,c.(73-75)Gcc>Acc,19,230,0,245
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF317,57693,19,9271316,9271316,Missense_Mutation,SNP,G,T,c.(994-996)aGg>aTg,23,285,0,255
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SMARCA4,6597,19,11132262,11132262,Intron,SNP,C,T,,9,147,0,138
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF653,115950,19,11598282,11598282,Silent,SNP,G,A,c.(994-996)gcC>gcT,9,501,0,475
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF653,115950,19,11606892,11606892,Silent,SNP,C,T,c.(430-432)gcG>gcA,24,508,0,399
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DNASE2,1777,19,12985045,12985045,IGR,SNP,G,A,,6,223,0,199
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GCDH,2639,19,13007817,13007817,Missense_Mutation,SNP,G,A,c.(946-948)Gcc>Acc,63,225,1,209
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SYCE2,256126,19,13015441,13015441,Silent,SNP,T,C,c.(169-171)ggA>ggG,19,123,0,168
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TRMT1,55621,19,13226238,13226238,Missense_Mutation,SNP,G,A,c.(496-498)Cgt>Tgt,19,118,0,115
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IL27RA,9466,19,14150357,14150357,Missense_Mutation,SNP,G,A,c.(256-258)Gga>Aga,12,103,0,106
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,hsa-mir-1199,0,19,14184230,14184230,Silent,SNP,C,T,c.(109-111)Ctg>Ttg,39,118,0,180
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ILVBL,10994,19,15226132,15226132,Silent,SNP,G,A,c.(1828-1830)gaC>gaT,82,366,0,455
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,OR10H3,26532,19,15852681,15852681,Missense_Mutation,SNP,T,C,c.(478-480)gTg>gCg,21,76,1,206
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NWD1,284434,19,16855879,16855879,Intron,SNP,A,G,,5,90,0,139
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,F2RL3,9002,19,17000929,17000929,Missense_Mutation,SNP,C,T,c.(655-657)Cgg>Tgg,124,483,0,610
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,F2RL3,9002,19,17001300,17001300,Silent,SNP,C,T,c.(1024-1026)taC>taT,7,358,0,346
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NR2F6,2063,19,17343200,17343200,Silent,SNP,C,T,c.(1174-1176)tcG>tcA,46,237,0,303
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GTPBP3,84705,19,17452077,17452077,Missense_Mutation,SNP,C,T,c.(1198-1200)aCg>aTg,12,190,0,210
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PGLS,25796,19,17628126,17628126,Silent,SNP,C,T,c.(424-426)ttC>ttT,18,97,0,113
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FAM129C,199786,19,17653011,17653011,Missense_Mutation,SNP,C,T,c.(1330-1332)Cgg>Tgg,49,247,0,194
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PIK3R2,5296,19,18274097,18274097,Missense_Mutation,SNP,G,A,c.(1315-1317)Gtg>Atg,51,172,0,200
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KIAA1683,80726,19,18369121,18369121,Intron,SNP,G,T,,12,84,1,128
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CRTC1,23373,19,18860694,18860694,Intron,SNP,A,C,,5,125,0,153
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,UPF1,5976,19,18965942,18965942,Missense_Mutation,SNP,G,A,c.(1468-1470)Gtg>Atg,9,194,0,178
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HOMER3,9454,19,19040364,19040364,Missense_Mutation,SNP,C,T,c.(973-975)cGg>cAg,7,238,0,204
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SUGP2,10147,19,19115366,19115366,Missense_Mutation,SNP,G,A,c.(2539-2541)cCg>cTg,5,141,0,202
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HAPLN4,404037,19,19368710,19368710,Silent,SNP,G,A,c.(1123-1125)ggC>ggT,10,132,0,95
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HAPLN4,404037,19,19369425,19369425,Missense_Mutation,SNP,C,T,c.(724-726)Ggc>Agc,61,229,0,252
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PBX4,80714,19,19680308,19680308,Missense_Mutation,SNP,C,T,c.(718-720)Gaa>Aaa,5,139,0,149
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF90,7643,19,20229965,20229965,Silent,SNP,G,A,c.(1600-1602)gcG>gcA,11,61,0,196
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,VSTM2B,342865,19,30021160,30021160,Silent,SNP,G,A,c.(730-732)tcG>tcA,5,316,0,286
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C19orf12,83636,19,30193718,30193718,Silent,SNP,C,T,c.(358-360)gcG>gcA,35,134,0,192
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CEP89,84902,19,33450917,33450917,Missense_Mutation,SNP,G,A,c.(193-195)aCg>aTg,5,258,0,265
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PEPD,5184,19,33892741,33892741,Missense_Mutation,SNP,C,T,c.(853-855)Gct>Act,109,380,0,469
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GRAMD1A,57655,19,35505134,35505134,Silent,SNP,C,T,c.(910-912)gaC>gaT,5,282,0,281
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C19orf55,0,19,36255795,36255795,Missense_Mutation,SNP,C,T,c.(583-585)aCg>aTg,41,180,0,240
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,WDR62,284403,19,36592212,36592212,Silent,SNP,G,A,c.(2962-2964)ccG>ccA,6,411,0,382
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,WDR62,284403,19,36594101,36594101,Missense_Mutation,SNP,G,A,c.(3490-3492)cGc>cAc,111,381,0,526
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,WDR62,284403,19,36594419,36594419,Missense_Mutation,SNP,G,A,c.(3673-3675)cGc>cAc,65,291,0,406
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF568,374900,19,37487529,37487529,Silent,SNP,A,G,c.(742-744)gaA>gaG,4,17,0,76
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RYR1,6261,19,39013699,39013699,Missense_Mutation,SNP,G,A,c.(10291-10293)Gcg>Acg,68,278,0,338
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RYR1,6261,19,39019018,39019018,Missense_Mutation,SNP,G,A,c.(10897-10899)Gtg>Atg,7,513,1,451
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ACTN4,81,19,39208713,39208713,Splice_Site,SNP,C,T,c.(1288-1290)gaC>gaT,7,472,0,469
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SARS2,54938,19,39412083,39412083,Missense_Mutation,SNP,C,T,c.(538-540)Gtc>Atc,13,428,0,465
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LRFN1,57622,19,39804692,39804692,Missense_Mutation,SNP,C,T,c.(1285-1287)Gtg>Atg,7,233,0,191
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LRFN1,57622,19,39805168,39805168,Missense_Mutation,SNP,T,C,c.(808-810)gAc>gGc,8,378,0,331
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LRFN1,57622,19,39805780,39805780,Missense_Mutation,SNP,C,T,c.(196-198)cGc>cAc,15,55,0,87
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DLL3,10683,19,39989645,39989645,Missense_Mutation,SNP,T,C,c.(31-33)Tcc>Ccc,25,193,1,234
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LGALS14,56891,19,40197299,40197299,Silent,SNP,G,A,c.(76-78)ccG>ccA,4,76,0,192
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NUMBL,9253,19,41190312,41190312,Intron,SNP,G,A,,19,352,0,312
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BCKDHA,593,19,41928115,41928115,Silent,SNP,C,T,c.(691-693)gtC>gtT,83,289,0,385
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CEACAM5,1048,19,42224997,42224997,Missense_Mutation,SNP,G,A,c.(1927-1929)Gcc>Acc,10,244,1,333
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SRRM5,100170229,19,44118326,44118326,Missense_Mutation,SNP,A,G,c.(2053-2055)Acc>Gcc,25,77,0,181
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,APOE,348,19,45409182,45409182,Intron,SNP,T,C,,16,48,0,102
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GPR4,2828,19,46095066,46095066,Missense_Mutation,SNP,G,A,c.(58-60)cCg>cTg,15,87,1,125
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HIF3A,64344,19,46811983,46811983,Missense_Mutation,SNP,C,T,c.(511-513)aCa>aTa,6,107,0,112
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,STRN4,29888,19,47234012,47234012,Nonsense_Mutation,SNP,G,A,c.(856-858)Cag>Tag,6,182,0,164
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MEIS3,56917,19,47918038,47918038,Missense_Mutation,SNP,C,T,c.(532-534)cGg>cAg,57,265,0,274
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KCNA7,3743,19,49573867,49573867,Missense_Mutation,SNP,G,T,c.(823-825)gCc>gAc,7,279,0,313
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ATF5,22809,19,50436214,50436214,Silent,SNP,C,T,c.(712-714)ggC>ggT,41,134,0,138
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SIGLEC11,114132,19,50453449,50453449,Silent,SNP,C,T,c.(1873-1875)ccG>ccA,29,88,0,102
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,POLD1,5424,19,50918707,50918707,Silent,SNP,C,T,c.(2575-2577)ggC>ggT,36,81,0,74
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SIGLEC10,89790,19,51919294,51919294,Silent,SNP,G,T,c.(880-882)gtC>gtA,6,256,0,298
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FPR3,2359,19,52327242,52327242,Nonsense_Mutation,SNP,C,T,c.(241-243)Cga>Tga,5,28,0,95
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF614,80110,19,52521619,52521619,Splice_Site,SNP,A,G,c.e3+1,5,95,0,173
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF816,125893,19,53454542,53454542,Silent,SNP,C,T,c.(484-486)tcG>tcA,17,83,0,238
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MIR518F,574472,19,54201696,54201696,RNA,SNP,C,T,,4,62,0,99
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NLRP12,91662,19,54308943,54308943,Intron,SNP,G,T,,4,52,0,47
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MYADM,91663,19,54377015,54377015,Missense_Mutation,SNP,G,A,c.(232-234)Gtg>Atg,11,265,1,343
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CNOT3,4849,19,54649755,54649755,Silent,SNP,G,A,c.(811-813)ccG>ccA,21,93,0,84
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RDH13,112724,19,55568080,55568080,Missense_Mutation,SNP,C,T,c.(280-282)cGg>cAg,36,241,0,188
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TMEM190,147744,19,55889077,55889077,Missense_Mutation,SNP,C,T,c.(211-213)Cgt>Tgt,9,41,0,120
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF548,147694,19,57911096,57911096,Missense_Mutation,SNP,G,A,c.(1441-1443)Gaa>Aaa,8,35,0,86
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF134,7693,19,58132200,58132200,Missense_Mutation,SNP,G,A,c.(712-714)gGa>gAa,13,110,0,229
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF551,90233,19,58199270,58199270,Missense_Mutation,SNP,C,T,c.(1627-1629)Cgc>Tgc,17,64,0,156
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FAM110A,83541,20,825986,825986,Missense_Mutation,SNP,G,A,c.(538-540)cGg>cAg,17,146,0,92
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SNPH,9751,20,1285548,1285548,Missense_Mutation,SNP,C,T,c.(334-336)aCg>aTg,5,82,0,118
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC4A11,83959,20,3209547,3209547,Missense_Mutation,SNP,G,A,c.(2176-2178)cCg>cTg,7,355,1,395
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SMOX,54498,20,4162817,4162817,Missense_Mutation,SNP,G,A,c.(691-693)Gct>Act,24,99,0,110
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SMOX,54498,20,4163472,4163472,Missense_Mutation,SNP,C,T,c.(1345-1347)aCg>aTg,12,63,0,101
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ANKEF1,63926,20,10030253,10030253,Missense_Mutation,SNP,G,A,c.(1036-1038)Gtt>Att,4,83,0,140
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SPTLC3,55304,20,13029752,13029752,Missense_Mutation,SNP,G,A,c.(277-279)Gca>Aca,7,27,0,69
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC24A3,57419,20,19565662,19565662,Silent,SNP,G,A,c.(469-471)gcG>gcA,5,70,0,105
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C20orf26,0,20,20180478,20180478,Nonsense_Mutation,SNP,C,T,c.(1864-1866)Cga>Tga,6,143,0,171
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,XRN2,22803,20,21312405,21312405,Splice_Site,SNP,G,T,c.e8-1,6,37,0,105
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ENTPD6,955,20,25195566,25195566,Missense_Mutation,SNP,G,A,c.(661-663)Gga>Aga,5,121,0,138
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,AHCY,191,20,32883359,32883359,Missense_Mutation,SNP,C,T,c.(61-63)Gcc>Acc,6,349,0,355
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MYH7B,57644,20,33586406,33586406,Missense_Mutation,SNP,C,T,c.(4093-4095)Cgg>Tgg,36,275,0,226
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MYH7B,57644,20,33586579,33586579,Missense_Mutation,SNP,C,T,c.(4177-4179)Cgg>Tgg,5,166,0,189
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FAM83C,128876,20,33875630,33875630,Missense_Mutation,SNP,A,G,c.(952-954)Tct>Cct,52,304,0,340
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TGM2,7052,20,36784354,36784354,Missense_Mutation,SNP,C,T,c.(328-330)Gcc>Acc,71,312,0,325
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ADA,100,20,43249697,43249697,Missense_Mutation,SNP,G,A,c.(937-939)Cgg>Tgg,12,265,0,493
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TP53TG5,27296,20,44006189,44006189,Missense_Mutation,SNP,C,T,c.(112-114)cGt>cAt,6,236,0,205
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PCIF1,63935,20,44569763,44569763,Missense_Mutation,SNP,C,T,c.(589-591)cCg>cTg,45,130,0,215
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TMEM189-UBE2V1,387522,20,48744572,48744572,Missense_Mutation,SNP,G,A,c.(631-633)Cgt>Tgt,77,272,0,318
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KCNG1,3755,20,49620574,49620574,3'UTR,SNP,G,A,,6,34,0,55
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZFP64,55734,20,50701605,50701605,Missense_Mutation,SNP,G,A,c.(1429-1431)Cgg>Tgg,11,80,0,119
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SS18L1,26039,20,60733840,60733840,Intron,SNP,T,C,,51,112,0,216
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LAMA5,3911,20,60892438,60892438,Missense_Mutation,SNP,C,T,c.(7474-7476)Gca>Aca,6,268,0,217
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MRGBP,55257,20,61430982,61430982,Missense_Mutation,SNP,G,A,c.(601-603)cGg>cAg,5,91,0,83
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DIDO1,11083,20,61528044,61528044,Silent,SNP,G,A,c.(1891-1893)tcC>tcT,7,121,0,145
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ABHD16B,140701,20,62493135,62493135,Missense_Mutation,SNP,G,C,c.(241-243)aGc>aCc,24,161,0,96
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RBM11,54033,21,15591885,15591885,Splice_Site,SNP,C,T,c.(97-99)gCg>gTg,3,10,0,25
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TIAM1,7074,21,32526699,32526699,Missense_Mutation,SNP,T,C,c.(3037-3039)Aac>Gac,6,165,0,124
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TIAM1,7074,21,32624249,32624249,Missense_Mutation,SNP,G,A,c.(1219-1221)gCg>gTg,5,214,0,264
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SCAF4,57466,21,33068464,33068464,Nonsense_Mutation,SNP,G,A,c.(1030-1032)Cga>Tga,11,56,0,112
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IFNGR2,3460,21,34783810,34783810,Intron,SNP,C,T,,9,145,0,164
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DYRK1A,1859,21,38845106,38845106,Missense_Mutation,SNP,G,A,c.(130-132)cGc>cAc,7,68,0,99
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DSCAM,1826,21,41450656,41450656,Missense_Mutation,SNP,C,T,c.(4669-4671)Gcg>Acg,13,78,0,125
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,COL18A1,80781,21,46841373,46841373,Intron,SNP,C,T,,5,329,0,283
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FTCD,10841,21,47557213,47557213,Silent,SNP,G,A,c.(1477-1479)ggC>ggT,103,360,1,494
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FTCD,10841,21,47574237,47574237,Missense_Mutation,SNP,C,T,c.(64-66)Gcc>Acc,16,486,0,352
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DIP2A,23181,21,47958434,47958434,Missense_Mutation,SNP,T,C,c.(1840-1842)Tct>Cct,6,308,0,217
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CECR2,27443,22,18028543,18028543,Missense_Mutation,SNP,C,T,c.(3073-3075)cCg>cTg,11,18,0,47
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SERPIND1,3053,22,21140431,21140431,Missense_Mutation,SNP,G,A,c.(1303-1305)Gac>Aac,17,251,1,343
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,P2RX6,9127,22,21380816,21380816,Silent,SNP,G,A,c.(1234-1236)acG>acA,85,350,0,294
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RGL4,266747,22,24038881,24038881,Intron,SNP,T,C,,9,154,0,183
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,Unknown,0,22,25045893,25045893,IGR,SNP,G,A,,19,359,0,539
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HPS4,89781,22,26860319,26860319,Missense_Mutation,SNP,C,T,c.(1276-1278)cGc>cAc,14,240,0,253
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CRYBB1,1414,22,26997907,26997907,Missense_Mutation,SNP,C,T,c.(511-513)Gca>Aca,100,427,0,522
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CRYBA4,1413,22,27026326,27026326,Missense_Mutation,SNP,G,A,c.(466-468)Ggc>Agc,39,223,0,415
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KREMEN1,83999,22,29533397,29533397,Silent,SNP,C,T,c.(691-693)ccC>ccT,7,10,0,37
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,INPP5J,27124,22,31521442,31521442,Silent,SNP,T,C,c.(715-717)gaT>gaC,6,180,0,237
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,APOL6,80830,22,36055294,36055294,Missense_Mutation,SNP,C,T,c.(682-684)gCg>gTg,6,230,0,234
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CDC42EP1,11135,22,37962582,37962582,Missense_Mutation,SNP,C,T,c.(226-228)Cgc>Tgc,9,39,0,62
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BAIAP2L2,80115,22,38494146,38494146,Missense_Mutation,SNP,G,A,c.(388-390)gCg>gTg,48,213,0,216
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CACNA1I,8911,22,39966778,39966778,Silent,SNP,G,A,c.(19-21)ccG>ccA,22,66,0,154
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CACNA1I,8911,22,40037122,40037122,Missense_Mutation,SNP,G,A,c.(991-993)Gcc>Acc,42,145,0,243
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CENPM,79019,22,42341336,42341336,Intron,SNP,A,C,,27,160,0,206
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LDOC1L,84247,22,44893099,44893099,Missense_Mutation,SNP,G,A,c.(337-339)gCg>gTg,41,156,0,226
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CELSR1,9620,22,46795727,46795727,Silent,SNP,A,G,c.(5299-5301)Ttg>Ctg,5,253,0,252
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TBC1D22A,25771,22,47311377,47311377,Intron,SNP,C,T,,32,147,0,184
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TUBGCP6,85378,22,50664798,50664798,Silent,SNP,G,A,c.(1609-1611)caC>caT,19,176,0,188
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CPT1B,1375,22,51016211,51016211,Missense_Mutation,SNP,C,T,c.(133-135)cGc>cAc,20,66,0,90
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CHKB,1120,22,51019923,51019923,Silent,SNP,C,T,c.(505-507)acG>acA,70,264,0,429
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CSF2RA,1438,X,1404660,1404660,Intron,SNP,G,A,,42,250,0,317
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DHRSX,207063,X,2184850,2184850,Missense_Mutation,SNP,G,A,c.(526-528)gCg>gTg,47,301,0,371
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NLGN4X,57502,X,5811063,5811063,Missense_Mutation,SNP,T,C,c.(2245-2247)cAc>cGc,7,187,0,162
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HDHD1,8226,X,6995394,6995394,Missense_Mutation,SNP,C,T,c.(376-378)cGc>cAc,53,129,0,177
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FTHL17,53940,X,31089783,31089783,Silent,SNP,G,A,c.(286-288)agC>agT,7,59,0,127
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HUWE1,10075,X,53634552,53634552,Missense_Mutation,SNP,T,C,c.(2428-2430)Aat>Gat,3,15,0,38
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TAF1,6872,X,70617155,70617155,Silent,SNP,C,T,c.(3454-3456)tcC>tcT,36,54,0,152
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ACRC,93953,X,70823637,70823637,Silent,SNP,C,T,c.(508-510)gaC>gaT,6,174,0,256
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,POU3F4,5456,X,82763682,82763682,Missense_Mutation,SNP,G,T,c.(349-351)aGc>aTc,11,45,0,83
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARMCX1,51309,X,100808036,100808036,Silent,SNP,C,T,c.(121-123)gaC>gaT,20,39,0,83
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FRMPD3,84443,X,106843744,106843744,Silent,SNP,C,T,c.(2572-2574)gcC>gcT,8,125,0,161
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LHFPL1,340596,X,111914435,111914435,Missense_Mutation,SNP,T,G,c.(184-186)Atc>Ctc,7,77,0,143
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RBMXL3,139804,X,114427039,114427039,Missense_Mutation,SNP,C,T,c.(3034-3036)tCg>tTg,4,98,0,104
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,XIAP,331,X,123046661,123046661,3'UTR,SNP,C,T,,6,36,0,47
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DCAF12L1,139170,X,125685938,125685938,Silent,SNP,C,T,c.(652-654)gcG>gcA,4,80,0,114
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MAMLD1,10046,X,149639255,149639255,Silent,SNP,G,A,c.(1408-1410)caG>caA,16,251,0,308
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CNGA2,1260,X,150911730,150911730,Missense_Mutation,SNP,A,G,c.(754-756)cAc>cGc,4,87,0,78
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PNMA5,114824,X,152159400,152159400,Missense_Mutation,SNP,A,C,c.(742-744)tTt>tGt,5,9,0,19
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,USP9Y,8287,Y,14928256,14928256,Missense_Mutation,SNP,G,A,c.(4807-4809)Ggg>Agg,18,26,0,116
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MFN2,9927,1,12058807,12058807,Intron,DEL,T,-,,36,182,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,VPS13D,55187,1,12304332,12304333,Frame_Shift_Ins,INS,-,T,c.(205-207)cccfs,6,40,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,AKR7L,246181,1,19600329,19600332,RNA,DEL,GAGG,-,,13,45,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TCTEX1D4,343521,1,45272256,45272256,Frame_Shift_Del,DEL,G,-,c.(85-87)cgafs,15,79,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,JAK1,3716,1,65330630,65330630,Frame_Shift_Del,DEL,T,-,c.(1015-1017)aatfs,14,25,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CA14,23632,1,150235313,150235313,Intron,DEL,A,-,,9,22,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ADAMTSL4,54507,1,150526424,150526424,Frame_Shift_Del,DEL,G,-,c.(955-957)acgfs,15,56,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ADAMTSL4,54507,1,150531044,150531044,Frame_Shift_Del,DEL,C,-,c.(2476-2478)ggcfs,78,287,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ASH1L,55870,1,155448996,155448996,Frame_Shift_Del,DEL,T,-,c.(3664-3666)aagfs,27,116,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DARS2,55157,1,173823075,173823075,Intron,DEL,T,-,,14,47,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TMEM63A,9725,1,226058919,226058919,Intron,DEL,A,-,,4,6,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CDC42BPA,8476,1,227227955,227227955,Intron,DEL,A,-,,8,24,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GALNT2,2590,1,230203102,230203102,Frame_Shift_Del,DEL,G,-,c.(73-75)tcgfs,27,76,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PXDN,7837,2,1639165,1639166,Intron,INS,-,C,,30,136,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,Unknown,0,2,17566472,17566472,IGR,DEL,A,-,,6,25,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KCNK12,56660,2,47797262,47797263,Frame_Shift_Ins,INS,-,C,c.(208-210)gcgfs,25,112,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IFIH1,64135,2,163134716,163134716,Splice_Site,DEL,T,-,c.(1762-1764)aaa>aa,11,26,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC39A10,57181,2,196581436,196581436,Frame_Shift_Del,DEL,C,-,c.(1771-1773)tccfs,6,16,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CPS1,1373,2,211515064,211515064,Intron,DEL,T,-,,29,101,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PNKD,25953,2,219199382,219199383,Intron,INS,-,A,,4,27,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DNPEP,23549,2,220251503,220251505,Intron,DEL,GAG,-,,15,61,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SPEG,10290,2,220353819,220353819,Frame_Shift_Del,DEL,T,-,c.(8191-8193)tgtfs,57,168,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BRPF1,7862,3,9786078,9786078,Frame_Shift_Del,DEL,C,-,c.(2788-2790)cccfs,32,57,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SUCLG2,8801,3,67451375,67451376,Intron,INS,-,T,,4,3,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FOXP1,27086,3,71179580,71179581,Intron,INS,-,G,,3,21,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARL14,80117,3,160395340,160395340,Frame_Shift_Del,DEL,A,-,c.(205-207)gaafs,4,6,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RP11-433C9.2,0,3,184157104,184157105,Frame_Shift_Ins,INS,-,T,c.(538-543)cattttfs,34,197,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EPHB3,2049,3,184293820,184293820,Intron,DEL,G,-,,8,10,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IL1RAP,3556,3,190374316,190374316,Frame_Shift_Del,DEL,C,-,c.(1984-1986)cccfs,6,29,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RFC1,5981,4,39322118,39322120,In_Frame_Del,DEL,TCT,-,c.(976-981)gaagag>gag,14,71,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SEC31A,22872,4,83770120,83770122,In_Frame_Del,DEL,ATG,-,c.(2335-2340)atcatg>atg,7,52,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HPGDS,27306,4,95223401,95223403,Intron,DEL,AGA,-,,13,63,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RAP1GDS1,5910,4,99300160,99300160,Intron,DEL,T,-,,27,68,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TMEM184C,55751,4,148552785,148552786,Intron,INS,-,TC,,4,9,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PRMT10,0,4,148604934,148604934,Intron,DEL,A,-,,63,202,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DCHS2,54798,4,155180725,155180726,Frame_Shift_Ins,INS,-,T,c.(5395-5397)agcfs,9,32,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CLPTM1L,81037,5,1331903,1331903,Intron,DEL,G,-,,19,68,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MYO10,4651,5,16694605,16694606,Frame_Shift_Ins,INS,-,C,c.(3673-3675)ggcfs,123,383,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C5orf42,65250,5,37167150,37167150,Splice_Site,DEL,T,-,c.(7399-7401)agg>gg,19,67,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CDC25C,995,5,137661689,137661689,Intron,DEL,A,-,,28,49,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KDM3B,51780,5,137771288,137771289,Intron,DEL,TT,-,,6,35,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,STK10,6793,5,171615051,171615051,5'UTR,DEL,G,-,,10,49,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,F13A1,2162,6,6266965,6266965,Frame_Shift_Del,DEL,C,-,c.(397-399)gccfs,25,69,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC44A4,80736,6,31833054,31833056,Intron,DEL,GAG,-,,12,47,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EHMT2,10919,6,31852782,31852782,Frame_Shift_Del,DEL,C,-,c.(2353-2355)gggfs,22,76,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CUTA,51596,6,33385343,33385343,Frame_Shift_Del,DEL,C,-,c.(172-174)gatfs,88,300,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BAI3,577,6,69943324,69943324,Intron,DEL,A,-,,9,24,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SOBP,55084,6,107955840,107955840,Frame_Shift_Del,DEL,C,-,c.(1792-1794)cccfs,25,96,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HECW1,23072,7,43546677,43546678,Intron,INS,-,G,,3,18,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EGFR,1956,7,55221747,55221748,Frame_Shift_Ins,INS,-,C,c.(790-795)tgccccfs,53,155,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GBAS,2631,7,56045992,56045992,Intron,DEL,T,-,,6,11,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FGL2,10875,7,76828867,76828869,In_Frame_Del,DEL,CTT,-,c.(241-246)gaagtc>gtc,21,135,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GPC2,221914,7,99769367,99769367,Intron,DEL,C,-,,7,25,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CUX1,1523,7,101758354,101758354,Intron,DEL,T,-,,3,0,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CUX1,1523,7,101847869,101847869,Intron,DEL,C,-,,6,19,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CPA2,1358,7,129906743,129906743,Frame_Shift_Del,DEL,T,-,c.(22-24)tttfs,17,88,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NOM1,64434,7,156755908,156755908,Intron,DEL,C,-,,47,238,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HNF4G,3174,8,76463609,76463609,Intron,DEL,T,-,,6,45,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZFHX4,79776,8,77761373,77761373,Intron,DEL,T,-,,6,15,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,Unknown,0,8,88801579,88801580,IGR,INS,-,T,,4,26,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PABPC1,26986,8,101721460,101721460,Intron,DEL,A,-,,50,82,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BAALC,79870,8,104210405,104210405,Intron,DEL,T,-,,9,22,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DNAI1,27019,9,34501249,34501250,Intron,INS,-,G,,3,16,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF618,114991,9,116769802,116769804,Intron,DEL,CCT,-,,5,10,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DFNB31,25861,9,117187135,117187135,Intron,DEL,G,-,,7,15,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FAM129B,64855,9,130269339,130269339,Frame_Shift_Del,DEL,C,-,c.(2026-2028)gccfs,10,27,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ABCA2,20,9,139907543,139907543,Frame_Shift_Del,DEL,G,-,c.(4774-4776)ccafs,15,60,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PNPLA7,375775,9,140357851,140357851,Intron,DEL,C,-,,23,61,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,WDR37,22884,10,1175142,1175144,Intron,DEL,ATC,-,,9,40,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,KLF6,1316,10,3821349,3821349,3'UTR,DEL,T,-,,25,109,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,WAC,51322,10,28822875,28822875,Intron,DEL,C,-,,12,68,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NRP1,8829,10,33510802,33510802,Intron,DEL,A,-,,4,5,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PYROXD2,84795,10,100167326,100167326,Intron,DEL,G,-,,55,173,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BDNF,627,11,27722520,27722521,5'UTR,INS,-,C,,22,94,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DNAJC24,120526,11,31429666,31429666,Intron,DEL,T,-,,20,128,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FERMT3,83706,11,63978575,63978577,In_Frame_Del,DEL,AGA,-,c.(445-450)gagaag>gag,45,281,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,LTBP3,4054,11,65315347,65315347,Intron,DEL,C,-,,74,206,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,YIF1A,10897,11,66055018,66055019,Intron,INS,-,C,,13,52,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RBM4B,83759,11,66438372,66438372,Intron,DEL,T,-,,11,49,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,BIRC3,330,11,102197437,102197437,Intron,DEL,T,-,,20,137,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,USP2-AS1,100499227,11,119265634,119265634,RNA,DEL,C,-,,6,27,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RP11-680F20.6,0,11,125821976,125821976,RNA,DEL,G,-,,9,45,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC2A3,6515,12,8090911,8090911,5'Flank,DEL,A,-,,3,18,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PLEKHA5,54477,12,19519120,19519121,Intron,INS,-,G,,3,18,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,Unknown,0,12,38595976,38595977,IGR,DEL,TG,-,,36,177,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MDM1,56890,12,68726082,68726083,5'UTR,INS,-,G,,14,56,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GAS2L3,283431,12,101018591,101018591,Frame_Shift_Del,DEL,A,-,c.(2008-2010)aaafs,16,69,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RAD9B,144715,12,110959996,110959996,Frame_Shift_Del,DEL,A,-,c.(697-699)gaafs,7,35,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PDX1,3651,13,28494486,28494486,Frame_Shift_Del,DEL,C,-,c.(211-213)cccfs,31,110,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ELF1,1997,13,41515415,41515416,Frame_Shift_Ins,INS,-,TA,c.(895-900)ataaatfs,19,43,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TPP2,7174,13,103260116,103260116,Intron,DEL,T,-,,5,11,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ARGLU1,55082,13,107196406,107196406,Frame_Shift_Del,DEL,T,-,c.(760-762)attfs,20,140,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RBM23,55147,14,23374872,23374874,Intron,DEL,AAG,-,,4,32,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MIA2,117153,14,39706334,39706334,Intron,DEL,T,-,,7,20,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CEP128,145508,14,81380793,81380793,Intron,DEL,T,-,,6,20,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ATXN3,4287,14,92562447,92562447,Frame_Shift_Del,DEL,A,-,c.(223-225)ttcfs,18,71,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,WARS,7453,14,100820838,100820838,Frame_Shift_Del,DEL,C,-,c.(487-489)ggcfs,22,106,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,EMC7,56851,15,34380362,34380362,Intron,DEL,T,-,,8,13,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,Unknown,0,15,37402446,37402446,IGR,DEL,A,-,,12,71,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SLC28A1,9154,15,85447510,85447511,Intron,DEL,CT,-,,24,153,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PRC1,9055,15,91517977,91517978,Intron,INS,-,TG,,3,24,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RLTPR,146206,16,67680489,67680489,Intron,DEL,G,-,,6,16,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HIC1,3090,17,1960287,1960287,Frame_Shift_Del,DEL,G,-,c.(358-360)ccgfs,66,220,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C17orf107,100130311,17,4806111,4806114,3'UTR,DEL,CTCT,-,,21,110,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SPECC1,92521,17,20130682,20130682,Intron,DEL,T,-,,9,70,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MED24,9862,17,38191237,38191237,Intron,DEL,A,-,,13,32,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MRC2,9902,17,60769878,60769878,3'UTR,DEL,C,-,,7,13,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RGS9,8787,17,63133598,63133598,5'UTR,DEL,G,-,,7,80,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,HGS,9146,17,79657787,79657787,Intron,DEL,G,-,,19,85,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF407,55628,18,72344439,72344440,Frame_Shift_Ins,INS,-,GT,c.(1465-1467)gtgfs,58,263,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MUM1,84939,19,1376688,1376689,3'UTR,DEL,TG,-,,7,24,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,IZUMO4,113177,19,2097031,2097033,In_Frame_Del,DEL,CTC,-,c.(85-90)ttctcc>ttc,17,155,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,DNM2,1785,19,10906665,10906666,Intron,INS,-,A,,15,69,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RAD23A,5886,19,13063931,13063932,3'UTR,INS,-,AT,,4,6,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RFXANK,8625,19,19308316,19308318,Intron,DEL,CCT,-,,85,329,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MAG,4099,19,35793656,35793656,Intron,DEL,G,-,,5,12,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,CEACAM16,388551,19,45204780,45204780,Intron,DEL,C,-,,57,162,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,C5AR1,728,19,47824041,47824041,Frame_Shift_Del,DEL,C,-,c.(1006-1008)acgfs,20,53,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MEIS3,56917,19,47920925,47920926,Intron,INS,-,AG,,18,67,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NLRP12,91662,19,54313647,54313647,Frame_Shift_Del,DEL,C,-,c.(1264-1266)gggfs,105,376,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,MBOAT7,79143,19,54682661,54682661,Intron,DEL,G,-,,11,75,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SEL1L2,80343,20,13895708,13895708,Intron,DEL,A,-,,7,3,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,GZF1,64412,20,23349457,23349457,Frame_Shift_Del,DEL,A,-,c.(1516-1518)ttafs,4,34,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,NAPB,63908,20,23375644,23375644,Intron,DEL,A,-,,9,47,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,SAMHD1,25939,20,35526847,35526847,Frame_Shift_Del,DEL,T,-,c.(1603-1605)aacfs,13,85,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,ZNF334,55713,20,45130734,45130736,In_Frame_Del,DEL,AAG,-,c.(1240-1245)ttcttt>ttt,12,95,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PCK1,5105,20,56138312,56138312,Intron,DEL,G,-,,8,31,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,PCNT,5116,21,47775294,47775294,Intron,DEL,C,-,,9,67,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RGL4,266747,22,24034549,24034550,Frame_Shift_Ins,INS,-,C,c.(208-210)cccfs,12,54,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,FOXRED2,80020,22,36886108,36886108,Frame_Shift_Del,DEL,G,-,c.(2002-2004)ctgfs,12,66,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,TMPRSS6,164656,22,37466908,37466908,Intron,DEL,C,-,,24,87,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RPS6KA3,6197,X,20183185,20183185,Intron,DEL,G,-,,11,12,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,AFF2,2334,X,148039849,148039849,Intron,DEL,T,-,,18,17,,
RP-1532_PCProject_0234_T1_v3_Exome_OnPrem,RPL10,6134,X,153628103,153628107,Intron,DEL,TTATC,-,,3,42,,
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,C1orf159,54991,1,1026912,1026912,Silent,SNP,C,T,c.(10-12)cgG>cgA,6,135,0,116
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,ACAP3,116983,1,1233770,1233770,Missense_Mutation,SNP,C,A,c.(895-897)Gtc>Ttc,5,19,0,23
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,PRDM16,63976,1,3328714,3328714,Silent,SNP,C,T,c.(1951-1953)ggC>ggT,3,1,0,18
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,PPT1,5538,1,40542556,40542556,Silent,SNP,G,T,c.(754-756)gcC>gcA,6,303,0,236
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,GBP7,388646,1,89618430,89618430,Missense_Mutation,SNP,C,T,c.(349-351)Gcc>Acc,21,160,0,79
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,AGL,178,1,100357211,100357211,Missense_Mutation,SNP,G,A,c.(2998-3000)cGt>cAt,6,467,0,253
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,GPR161,23432,1,168073989,168073989,Missense_Mutation,SNP,T,C,c.(100-102)Atc>Gtc,78,261,0,196
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,TNR,7143,1,175360530,175360530,Silent,SNP,C,T,c.(1399-1401)acG>acA,8,290,0,170
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,ASTN1,460,1,176992534,176992534,Missense_Mutation,SNP,G,A,c.(1444-1446)Cgg>Tgg,41,183,1,111
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,DESI2,51029,1,244816649,244816649,Missense_Mutation,SNP,T,A,c.(34-36)Tac>Aac,27,107,0,65
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,APOB,338,2,21232308,21232308,Missense_Mutation,SNP,C,T,c.(7432-7434)Gca>Aca,57,219,1,237
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,ZNF638,27332,2,71620664,71620664,Intron,SNP,G,A,,10,541,0,239
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,WDR33,55339,2,128471241,128471241,Missense_Mutation,SNP,C,A,c.(3223-3225)gGg>gTg,48,162,0,149
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,ACVR2A,92,2,148684710,148684710,Nonsense_Mutation,SNP,T,A,c.(1408-1410)tTa>tAa,6,438,0,250
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,OSBPL6,114880,2,179260458,179260458,3'UTR,SNP,C,T,,5,124,0,63
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,DNAH7,56171,2,196671568,196671568,Intron,SNP,G,A,,26,145,0,91
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,CPS1,1373,2,211464172,211464172,Missense_Mutation,SNP,C,G,c.(1435-1437)gCg>gGg,12,372,0,255
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,SLC4A7,9497,3,27436531,27436531,Missense_Mutation,SNP,T,C,c.(2752-2754)Att>Gtt,15,116,0,77
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,XIRP1,165904,3,39227240,39227240,Missense_Mutation,SNP,G,A,c.(3697-3699)Cgc>Tgc,8,43,0,37
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,CADM2,253559,3,86010721,86010721,Silent,SNP,G,A,c.(865-867)acG>acA,5,201,0,86
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,IGSF11,152404,3,118624540,118624540,Silent,SNP,G,A,c.(604-606)atC>atT,37,171,0,154
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,GRK7,131890,3,141497312,141497312,Silent,SNP,G,A,c.(184-186)caG>caA,65,205,0,205
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,NDUFB5,4711,3,179322610,179322610,Missense_Mutation,SNP,G,A,c.(7-9)Gcc>Acc,5,173,0,72
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,CRYGS,1427,3,186262118,186262118,5'UTR,SNP,T,G,,76,443,0,253
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,DCHS2,54798,4,155411920,155411920,Silent,SNP,G,A,c.(586-588)gcC>gcT,21,129,0,123
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,FGB,2244,4,155487112,155487112,Silent,SNP,C,T,c.(265-267)gcC>gcT,5,279,0,144
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,HSP90AA4P,3323,4,190396191,190396191,RNA,SNP,T,C,,6,173,0,159
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,PCDHA7,56141,5,140215247,140215247,Missense_Mutation,SNP,G,A,c.(1279-1281)Gcg>Acg,6,406,0,249
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,TBC1D9B,23061,5,179297458,179297458,Missense_Mutation,SNP,C,T,c.(2521-2523)cGc>cAc,4,94,0,77
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,APOM,55937,6,31624370,31624370,Missense_Mutation,SNP,C,T,c.(235-237)cCg>cTg,29,135,0,94
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,EFHC1,114327,6,52318900,52318900,Missense_Mutation,SNP,G,A,c.(730-732)cGa>cAa,7,564,0,378
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,VIP,7432,6,153076489,153076489,Missense_Mutation,SNP,C,G,c.(316-318)Ctt>Gtt,41,205,0,130
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,ARID1B,57492,6,157100104,157100104,Silent,SNP,G,A,c.(1039-1041)gcG>gcA,4,63,0,39
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,PDE10A,10846,6,165827142,165827142,Silent,SNP,C,G,c.(1093-1095)cgG>cgC,89,244,0,113
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,HOXA2,3199,7,27141386,27141386,Intron,SNP,A,C,,11,36,0,39
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,GTF2IRD1,9569,7,73922477,73922477,Missense_Mutation,SNP,G,A,c.(67-69)Gcg>Acg,39,129,0,89
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,FEZF1,389549,7,121944446,121944446,Missense_Mutation,SNP,C,A,c.(46-48)Gct>Tct,3,17,0,19
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,AC008060.7,0,7,155174929,155174929,Silent,SNP,T,C,c.(109-111)tgT>tgC,29,126,0,118
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,MATN2,4147,8,99045295,99045295,Silent,SNP,C,A,c.(2605-2607)atC>atA,4,139,0,55
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,UBR5,51366,8,103287934,103287934,Splice_Site,SNP,A,C,c.e46+1,47,125,0,104
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,MTSS1,9788,8,125568553,125568553,Missense_Mutation,SNP,G,A,c.(1324-1326)Ccc>Tcc,18,348,0,166
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,ABCA1,19,9,107593346,107593346,Silent,SNP,C,T,c.(1750-1752)gaG>gaA,5,399,0,200
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,AKNA,80709,9,117113215,117113215,Missense_Mutation,SNP,C,T,c.(3145-3147)Gcc>Acc,23,91,0,76
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,SET,6418,9,131456944,131456944,3'UTR,SNP,A,G,,8,209,0,127
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,PRKG1,5592,10,53921668,53921668,Missense_Mutation,SNP,G,A,c.(976-978)Gga>Aga,7,532,0,276
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,CTNNA3,29119,10,67829100,67829100,Missense_Mutation,SNP,A,G,c.(2125-2127)Tgt>Cgt,7,388,0,175
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,HNRNPH3,3189,10,70101410,70101410,Missense_Mutation,SNP,A,G,c.(844-846)Atg>Gtg,11,228,0,107
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,SMC3,9126,10,112328760,112328760,Missense_Mutation,SNP,A,T,c.(79-81)cAt>cTt,41,362,0,228
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,C10orf137,0,10,127429610,127429610,Silent,SNP,G,C,c.(2209-2211)gtG>gtC,6,362,0,287
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,IRF7,3665,11,614522,614522,Missense_Mutation,SNP,G,A,c.(406-408)aCg>aTg,5,216,0,152
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,SLC22A18AS,5003,11,2909868,2909868,Intron,SNP,G,A,,6,35,0,40
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,HPS5,11234,11,18319249,18319249,Missense_Mutation,SNP,T,C,c.(1180-1182)Act>Gct,41,203,0,142
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,BTBD18,643376,11,57509222,57509222,IGR,SNP,A,G,,44,142,0,93
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,PLCB3,5331,11,64022789,64022789,Intron,SNP,A,G,,61,213,0,206
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,ALDH3B2,222,11,67430879,67430879,Intron,SNP,G,A,,5,310,0,178
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,TMEM123,114908,11,102272355,102272355,Missense_Mutation,SNP,T,A,c.(517-519)Att>Ttt,37,207,0,112
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,MCAM,4162,11,119182577,119182577,Missense_Mutation,SNP,G,A,c.(1225-1227)gCg>gTg,5,279,0,154
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,PRDM10,56980,11,129812493,129812493,Missense_Mutation,SNP,C,T,c.(793-795)aGg>aAg,43,165,0,139
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,TULP3,7289,12,3000132,3000132,Missense_Mutation,SNP,C,T,c.(19-21)Cgg>Tgg,4,75,0,39
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,SLC2A14,144195,12,7967113,7967113,Silent,SNP,G,A,c.(1360-1362)taC>taT,5,176,0,131
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,MUC19,283463,12,40940190,40940190,Intron,SNP,C,A,,5,74,0,57
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,ATP2B1,490,12,90028938,90028938,Missense_Mutation,SNP,A,T,c.(496-498)gTg>gAg,30,375,0,224
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,CRY1,1407,12,107386811,107386811,Missense_Mutation,SNP,C,A,c.(1588-1590)tGc>tTc,26,161,0,122
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,NCOR2,9612,12,124950769,124950769,Missense_Mutation,SNP,T,A,c.(655-657)Atc>Ttc,38,144,0,110
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,TPT1,7178,13,45914581,45914581,Intron,SNP,G,C,,7,304,0,109
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,PCDH20,64881,13,61989204,61989204,Missense_Mutation,SNP,G,T,c.(88-90)Cgt>Agt,4,91,0,37
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,GPC6,10082,13,94482788,94482788,Missense_Mutation,SNP,G,C,c.(700-702)cGa>cCa,5,234,0,104
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,FOXA1,3169,14,38061240,38061240,Missense_Mutation,SNP,G,A,c.(748-750)tCc>tTc,36,63,0,37
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,PELI2,57161,14,56757140,56757140,Missense_Mutation,SNP,G,A,c.(661-663)cGa>cAa,21,56,0,61
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,TRMT5,57570,14,61442242,61442242,Silent,SNP,C,T,c.(1393-1395)acG>acA,31,134,0,75
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,SYNE2,23224,14,64457188,64457188,Missense_Mutation,SNP,A,T,c.(2371-2373)ttA>ttT,37,222,0,161
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,NRDE2,55051,14,90755056,90755056,Missense_Mutation,SNP,T,C,c.(2662-2664)gAc>gGc,21,125,0,94
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,TDRD9,122402,14,104429523,104429523,Intron,SNP,T,C,,8,62,0,46
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,C14orf144,145195,14,104710685,104710685,Missense_Mutation,SNP,C,T,c.(67-69)cCt>cTt,45,148,0,126
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,AHNAK2,113146,14,105412475,105412475,Missense_Mutation,SNP,A,G,c.(9313-9315)Tct>Cct,4,113,0,120
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,VPS13C,54832,15,62160938,62160938,Missense_Mutation,SNP,G,A,c.(10783-10785)Cgt>Tgt,5,279,0,250
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,DIS3L,115752,15,66621429,66621429,Missense_Mutation,SNP,G,A,c.(2323-2325)Gga>Aga,5,257,0,118
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,HCN4,10021,15,73614996,73614996,Silent,SNP,G,A,c.(3436-3438)ccC>ccT,4,166,0,153
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,UNKL,64718,16,1455910,1455910,Intron,SNP,A,C,,35,49,0,56
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,CASKIN1,57524,16,2229755,2229755,Missense_Mutation,SNP,A,C,c.(3613-3615)cTg>cGg,24,62,0,98
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,C16orf96,342346,16,4649358,4649358,Silent,SNP,C,A,c.(3199-3201)atC>atA,30,189,0,136
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,KDM8,79831,16,27232041,27232041,Missense_Mutation,SNP,G,C,c.(1240-1242)tGg>tCg,70,421,0,302
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,XPO6,23214,16,28128763,28128763,Missense_Mutation,SNP,G,A,c.(1879-1881)gCg>gTg,6,214,0,105
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,TMED6,146456,16,69385447,69385447,Nonsense_Mutation,SNP,G,C,c.(208-210)taC>taG,22,106,0,94
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,NCOR1,9611,17,15973634,15973634,Missense_Mutation,SNP,C,T,c.(4357-4359)aGc>aAc,6,368,0,179
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,TOM1L2,146691,17,17769692,17769692,Silent,SNP,C,A,c.(1000-1002)ggG>ggT,7,117,0,85
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,CDC27,996,17,45249386,45249386,Missense_Mutation,SNP,G,A,c.(148-150)Cgc>Tgc,7,214,0,139
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,TEX14,56155,17,56694958,56694958,Missense_Mutation,SNP,G,C,c.(577-579)Cga>Gga,21,112,0,89
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,RNF157,114804,17,74152328,74152328,Silent,SNP,T,C,c.(1486-1488)acA>acG,5,179,0,87
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,ELP2,55250,18,33744550,33744550,Missense_Mutation,SNP,A,G,c.(1873-1875)aAt>aGt,61,169,0,205
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,LPPR3,0,19,813057,813057,Missense_Mutation,SNP,G,A,c.(1669-1671)gCg>gTg,4,97,0,82
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,ARHGEF18,23370,19,7537774,7537774,IGR,SNP,C,G,,4,22,0,28
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,LPAR2,9170,19,19737635,19737635,Silent,SNP,G,A,c.(457-459)ggC>ggT,4,140,0,147
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,ZNF708,7562,19,21476699,21476699,Missense_Mutation,SNP,T,C,c.(1069-1071)Att>Gtt,5,215,0,127
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,ALKBH6,84964,19,36505086,36505086,5'UTR,SNP,G,C,,42,223,0,144
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,CCDC8,83987,19,46915395,46915395,Missense_Mutation,SNP,G,A,c.(673-675)Cgg>Tgg,53,248,0,243
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,PRKCG,5582,19,54392898,54392898,Missense_Mutation,SNP,C,T,c.(292-294)Cgg>Tgg,6,224,0,216
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,ADAMTS5,11096,21,28296884,28296884,Nonsense_Mutation,SNP,G,A,c.(2281-2283)Cga>Tga,19,112,0,57
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,CDC45,8318,22,19492917,19492917,Missense_Mutation,SNP,A,T,c.(736-738)cAg>cTg,75,241,0,220
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,ZDHHC8,29801,22,20136181,20136181,IGR,SNP,C,T,,23,47,0,60
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,RASL10A,10633,22,29709842,29709842,Intron,SNP,G,A,,33,91,0,69
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,KLHDC7B,113730,22,50988177,50988177,Missense_Mutation,SNP,G,C,c.(1582-1584)Gcc>Ccc,9,3,2,17
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,HDAC6,10013,X,48673240,48673240,Splice_Site,SNP,G,A,c.e13-1,5,102,0,78
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,ALAS2,212,X,55046923,55046923,Missense_Mutation,SNP,C,T,c.(652-654)cGt>cAt,4,132,0,82
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,Unknown,0,X,71379852,71379852,IGR,SNP,C,T,,4,92,0,88
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,MAP3K19,80122,2,135743470,135743471,Frame_Shift_Ins,INS,-,T,c.(2971-2973)atgfs,23,208,,
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,ILDR1,286676,3,121707145,121707145,3'UTR,DEL,A,-,,54,198,,
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,TOPBP1,11073,3,133371322,133371323,In_Frame_Ins,INS,-,AAA,c.(1072-1074)tta>ttTTTa,47,306,,
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,TP53,7157,17,7578486,7578487,Frame_Shift_Del,DEL,AT,-,c.(442-444)gatfs,38,99,,
RP-1532_PCProject_0254_T1_v2_Exome_OnPrem,RBM42,79171,19,36125166,36125167,Frame_Shift_Ins,INS,-,C,c.(1027-1029)cccfs,14,92,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,MTOR,2475,1,11188123,11188123,Missense_Mutation,SNP,C,T,c.(5971-5973)Gcc>Acc,12,206,0,204
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,C1orf172,0,1,27278321,27278321,Missense_Mutation,SNP,G,A,c.(550-552)gCg>gTg,4,99,0,177
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,NFIA,4774,1,61824831,61824831,Silent,SNP,C,T,c.(829-831)cgC>cgT,21,117,0,123
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,DENND2C,163259,1,115142028,115142028,Missense_Mutation,SNP,G,A,c.(2149-2151)cCg>cTg,55,91,0,168
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,RPRD2,23248,1,150390156,150390156,Missense_Mutation,SNP,G,A,c.(289-291)cGt>cAt,4,51,0,28
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,FLG2,388698,1,152324384,152324384,Missense_Mutation,SNP,C,G,c.(5878-5880)Gac>Cac,5,189,0,323
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,HMCN1,83872,1,186023069,186023069,Silent,SNP,G,A,c.(6811-6813)gcG>gcA,87,170,0,300
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,TNNT2,7139,1,201342207,201342207,Intron,SNP,C,G,,64,175,1,344
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,TNNT2,7139,1,201342349,201342349,Missense_Mutation,SNP,C,T,c.(34-36)Gag>Aag,88,221,0,480
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,TNNT2,7139,1,201342367,201342367,Missense_Mutation,SNP,C,G,c.(16-18)Gag>Cag,80,206,0,480
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,RP11-38O14.5,0,1,202955799,202955799,RNA,SNP,A,G,,6,43,0,54
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,PPP2R5A,5525,1,212459541,212459541,Missense_Mutation,SNP,G,A,c.(88-90)cGc>cAc,4,170,0,171
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,USH2A,7399,1,216138812,216138812,Silent,SNP,G,T,c.(6967-6969)Cga>Aga,4,98,0,128
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,SH3RF3,344558,2,109745615,109745615,5'Flank,SNP,G,A,,4,130,0,180
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,ANAPC1,64682,2,112614212,112614212,Silent,SNP,C,T,c.(1492-1494)gtG>gtA,10,226,0,266
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,AMER3,205147,2,131522006,131522006,Silent,SNP,C,T,c.(2359-2361)caC>caT,58,77,0,232
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,GALNT13,114805,2,155098685,155098685,Missense_Mutation,SNP,T,A,c.(454-456)Ttg>Atg,4,72,0,62
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,LRP2,4036,2,170094614,170094614,Missense_Mutation,SNP,G,A,c.(4492-4494)aCg>aTg,5,330,0,340
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,COL5A2,1290,2,189929284,189929284,Splice_Site,SNP,C,T,c.(1714-1716)cGg>cAg,6,470,1,333
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,DYNC1LI1,51143,3,32608145,32608145,Intron,SNP,G,A,,5,164,0,81
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,TREX1,11277,3,48508232,48508232,Missense_Mutation,SNP,C,T,c.(343-345)Cca>Tca,6,158,0,224
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,QRICH1,54870,3,49094418,49094418,Silent,SNP,C,T,c.(1213-1215)acG>acA,4,133,0,220
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,UBA7,7318,3,49850916,49850916,Missense_Mutation,SNP,G,A,c.(220-222)gCc>gTc,44,51,0,118
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,DCP1A,55802,3,53326481,53326481,Missense_Mutation,SNP,C,T,c.(1000-1002)aGc>aAc,20,142,0,192
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,LRTM1,57408,3,54952831,54952831,Silent,SNP,G,A,c.(691-693)ccC>ccT,4,108,0,122
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,FAM86DP,692099,3,75476746,75476746,RNA,SNP,G,A,,5,178,1,300
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,IMPG2,50939,3,100949998,100949998,Intron,SNP,A,T,,74,151,0,223
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,GPR125,166647,4,22517362,22517362,Silent,SNP,A,G,c.(46-48)Ttg>Ctg,3,35,0,11
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,SPATA18,132671,4,52951094,52951094,Nonsense_Mutation,SNP,C,T,c.(1492-1494)Cga>Tga,31,98,0,134
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,LPHN3,23284,4,62897299,62897299,Missense_Mutation,SNP,T,A,c.(3358-3360)Ttt>Att,10,113,0,98
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,SMR3A,26952,4,71232407,71232407,Missense_Mutation,SNP,C,T,c.(100-102)cCa>cTa,4,33,0,59
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,RUFY3,22902,4,71640908,71640908,Missense_Mutation,SNP,T,C,c.(781-783)cTg>cCg,11,166,0,97
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,SPATA5,166378,4,123850202,123850202,Missense_Mutation,SNP,C,T,c.(295-297)aCa>aTa,5,339,0,141
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,ACSL1,2180,4,185705122,185705122,Missense_Mutation,SNP,G,A,c.(334-336)Cgg>Tgg,7,172,0,161
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,RP11-43F13.3,0,5,989451,989451,RNA,SNP,A,G,,3,33,0,32
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,CDH12,1010,5,21751882,21751882,Silent,SNP,G,A,c.(2347-2349)ggC>ggT,37,65,1,122
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,HCN1,348980,5,45262237,45262237,Missense_Mutation,SNP,G,A,c.(2458-2460)aCg>aTg,33,42,0,134
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,MARVELD2,153562,5,68728873,68728873,Silent,SNP,C,T,c.(1456-1458)Ctg>Ttg,4,110,0,218
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,CAMK4,814,5,110819999,110819999,Missense_Mutation,SNP,G,C,c.(1255-1257)aaG>aaC,24,70,0,83
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,CCDC112,153733,5,114610997,114610997,Missense_Mutation,SNP,G,T,c.(583-585)caC>caA,20,140,1,129
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,GABRG2,2566,5,161576242,161576242,Missense_Mutation,SNP,G,T,c.(1051-1053)Gtg>Ttg,18,387,0,510
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,LCP2,3937,5,169694019,169694019,Missense_Mutation,SNP,C,A,c.(682-684)Gca>Tca,14,222,0,178
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,RANBP17,64901,5,170626747,170626747,Silent,SNP,C,T,c.(2110-2112)ttC>ttT,18,45,0,32
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,STK10,6793,5,171471925,171471925,Silent,SNP,G,A,c.(2866-2868)gcC>gcT,5,317,0,238
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,ADAMTS2,9509,5,178566930,178566930,Missense_Mutation,SNP,G,A,c.(1735-1737)aCg>aTg,5,470,0,305
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,CANX,821,5,179143108,179143108,Missense_Mutation,SNP,T,A,c.(724-726)Ttg>Atg,5,102,0,84
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,HIST1H3D,8351,6,26197082,26197082,Missense_Mutation,SNP,C,A,c.(397-399)Ggg>Tgg,31,286,0,263
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,BRD2,6046,6,32939850,32939850,5'UTR,SNP,C,T,,16,41,0,73
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,CGA,1081,6,87796292,87796292,Intron,SNP,T,C,,4,15,0,17
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,IGF2R,3482,6,160525916,160525916,Missense_Mutation,SNP,G,A,c.(7276-7278)Gga>Aga,4,98,0,163
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,LPA,4018,6,161027560,161027560,Missense_Mutation,SNP,C,T,c.(2734-2736)Gcg>Acg,96,267,0,697
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,PSMG3-AS1,114796,7,1627162,1627162,lincRNA,SNP,C,T,,5,130,0,231
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,AP5Z1,9907,7,4823912,4823912,Missense_Mutation,SNP,G,A,c.(700-702)Gac>Aac,10,141,0,179
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,TMED4,222068,7,44621167,44621167,Silent,SNP,G,A,c.(268-270)Ctg>Ttg,6,238,0,230
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,TPST1,8460,7,65751691,65751691,Nonsense_Mutation,SNP,C,T,c.(1039-1041)Cga>Tga,46,84,0,104
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,DTX2,113878,7,76112021,76112021,Silent,SNP,C,T,c.(463-465)aaC>aaT,14,259,0,403
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,TECPR1,25851,7,97846759,97846759,Silent,SNP,C,T,c.(3439-3441)tcG>tcA,67,79,0,158
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,KCND2,3751,7,119914866,119914866,Missense_Mutation,SNP,A,T,c.(178-180)gaA>gaT,99,123,0,321
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,Unknown,0,7,121164462,121164462,IGR,SNP,A,T,,61,185,0,229
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,MGAM,8972,7,141765234,141765234,Silent,SNP,G,A,c.(4582-4584)acG>acA,6,370,0,430
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,KIAA1456,57604,8,12878594,12878594,Nonsense_Mutation,SNP,C,T,c.(406-408)Caa>Taa,4,64,0,76
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,ADRA1A,148,8,26722237,26722237,Missense_Mutation,SNP,C,T,c.(250-252)Gcc>Acc,3,21,0,263
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,RIMS2,9699,8,105263987,105263987,Missense_Mutation,SNP,C,T,c.(4042-4044)aCa>aTa,63,160,0,298
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,KIAA0196,9897,8,126093918,126093918,Missense_Mutation,SNP,G,A,c.(502-504)tCt>tTt,118,264,0,295
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,MROH5,389690,8,142459822,142459822,RNA,SNP,C,A,,38,38,0,86
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,SLC39A4,55630,8,145639463,145639463,Missense_Mutation,SNP,G,A,c.(1165-1167)aCa>aTa,5,135,0,295
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,FAM120A,23196,9,96321001,96321001,Splice_Site,SNP,G,A,c.e15+1,4,148,0,124
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,GPR107,57720,9,132876942,132876942,Splice_Site,SNP,G,A,c.(1450-1452)Gct>Act,4,70,0,60
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,FCN1,2219,9,137801782,137801782,Silent,SNP,G,A,c.(841-843)gcC>gcT,87,216,0,387
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,NOTCH1,4851,9,139410086,139410086,Silent,SNP,G,A,c.(1750-1752)gtC>gtT,13,175,1,379
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,APBB1IP,54518,10,26825135,26825135,Missense_Mutation,SNP,G,A,c.(1033-1035)Gga>Aga,5,61,1,62
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,UNC5B,219699,10,73053202,73053202,Missense_Mutation,SNP,G,T,c.(1813-1815)Gtg>Ttg,40,56,0,118
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,NRG3,10718,10,84118577,84118577,Silent,SNP,C,T,c.(904-906)ggC>ggT,49,155,0,146
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,PIK3AP1,118788,10,98412546,98412546,Silent,SNP,C,T,c.(619-621)gcG>gcA,36,70,0,177
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,PCGF6,84108,10,105110539,105110539,Silent,SNP,C,T,c.(283-285)gaG>gaA,4,80,1,74
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,ACSL5,51703,10,114177626,114177626,Missense_Mutation,SNP,G,A,c.(1240-1242)cGt>cAt,19,140,0,115
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,RNF169,254225,11,74459968,74459968,Missense_Mutation,SNP,G,A,c.(43-45)Gca>Aca,31,53,0,82
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,TMPRSS4-AS1,100526771,11,117896361,117896361,RNA,SNP,C,T,,5,120,1,175
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,OR10G7,390265,11,123909049,123909049,Silent,SNP,G,T,c.(658-660)atC>atA,9,143,0,242
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,CCDC77,84318,12,520908,520908,Intron,SNP,C,T,,5,64,0,91
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,CELA1,1990,12,51739625,51739625,Missense_Mutation,SNP,C,T,c.(52-54)cGc>cAc,4,137,0,228
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,NUP107,57122,12,69127393,69127393,Splice_Site,SNP,G,A,c.e24+1,3,24,0,32
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,SLC6A15,55117,12,85266462,85266462,Silent,SNP,A,G,c.(1219-1221)taT>taC,11,143,0,85
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,RIC8B,55188,12,107279792,107279792,Silent,SNP,A,G,c.(1561-1563)tAa>tGa,9,129,0,109
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,FAM109A,144717,12,111801061,111801061,Silent,SNP,G,A,c.(169-171)ccC>ccT,4,234,0,233
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,OAS3,4940,12,113384577,113384577,Silent,SNP,G,A,c.(664-666)acG>acA,9,132,2,177
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,SETD1B,23067,12,122252599,122252599,Silent,SNP,C,T,c.(2476-2478)tcC>tcT,4,182,0,299
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,SACS,26278,13,23906440,23906440,Missense_Mutation,SNP,G,A,c.(11575-11577)Cgc>Tgc,5,108,0,203
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,POU4F1,5457,13,79175944,79175944,Missense_Mutation,SNP,A,G,c.(865-867)gTg>gCg,25,96,0,257
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,DZIP1,22873,13,96241408,96241408,Splice_Site,SNP,G,A,c.(2026-2028)aCg>aTg,4,143,0,93
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,ZNF219,51222,14,21558817,21558817,Missense_Mutation,SNP,C,T,c.(2047-2049)Gcg>Acg,4,175,0,241
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,TRAV25,28658,14,22580864,22580864,RNA,SNP,G,T,,9,106,0,107
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,SIPA1L1,26037,14,72196948,72196948,Silent,SNP,G,A,c.(4852-4854)acG>acA,5,185,0,252
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,TRPM1,4308,15,31332558,31332558,Intron,SNP,A,G,,4,147,0,238
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,NARG2,0,15,60715950,60715950,Silent,SNP,C,T,c.(2830-2832)acG>acA,15,28,0,34
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,ZNF609,23060,15,64791894,64791894,Missense_Mutation,SNP,G,T,c.(274-276)agG>agT,30,288,0,340
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,SIN3A,25942,15,75692388,75692388,Missense_Mutation,SNP,C,T,c.(1846-1848)cGc>cAc,4,83,0,64
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,PKD1,5310,16,2161341,2161341,Missense_Mutation,SNP,G,A,c.(3826-3828)gCg>gTg,7,312,0,553
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,ABAT,18,16,8832296,8832296,Intron,SNP,C,T,,5,270,0,145
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,UQCRC2,7385,16,21974211,21974211,Intron,SNP,G,A,,4,57,0,108
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,FBXL19,54620,16,30941758,30941758,Missense_Mutation,SNP,C,T,c.(1213-1215)cCg>cTg,3,20,1,68
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,CCDC102A,92922,16,57562630,57562630,Missense_Mutation,SNP,C,T,c.(460-462)Ggc>Agc,4,85,0,76
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,TP53,7157,17,7577141,7577141,Missense_Mutation,SNP,C,A,c.(796-798)gGa>gTa,109,78,1,478
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,PSMB3,5691,17,36920410,36920410,Missense_Mutation,SNP,G,A,c.(607-609)cGa>cAa,5,213,1,232
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,PIP4K2B,8396,17,36936743,36936743,Missense_Mutation,SNP,C,T,c.(469-471)Gtg>Atg,4,139,0,108
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,AOC4P,90586,17,41019960,41019960,RNA,SNP,G,A,,4,216,0,259
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,MYO5B,4645,18,47581709,47581709,Missense_Mutation,SNP,G,A,c.(67-69)Cgc>Tgc,6,279,0,295
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,DOT1L,84444,19,2226816,2226816,Silent,SNP,C,T,c.(4294-4296)gcC>gcT,4,151,0,230
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,CATSPERD,257062,19,5778645,5778645,Silent,SNP,G,A,c.(2353-2355)ccG>ccA,4,75,0,155
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,MRPL4,51073,19,10363343,10363343,Missense_Mutation,SNP,G,A,c.(241-243)Gac>Aac,4,128,0,190
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,OR10H5,284433,19,15905030,15905030,Missense_Mutation,SNP,C,G,c.(172-174)Ccc>Gcc,48,78,0,146
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,ZNF708,7562,19,21476519,21476519,Missense_Mutation,SNP,T,C,c.(1249-1251)Aag>Gag,4,110,1,150
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,ZNF681,148213,19,23927110,23927110,Missense_Mutation,SNP,G,T,c.(1240-1242)agC>agA,6,167,1,238
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,PVRL2,5819,19,45377252,45377252,Silent,SNP,C,T,c.(853-855)gtC>gtT,46,65,0,129
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,GRIN2D,2906,19,48922543,48922543,Silent,SNP,G,A,c.(1786-1788)gtG>gtA,7,146,0,96
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,FCGRT,2217,19,50017522,50017522,Missense_Mutation,SNP,C,T,c.(379-381)tCg>tTg,42,71,0,154
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,PPP1R12C,54776,19,55606683,55606683,Missense_Mutation,SNP,G,A,c.(1429-1431)cCg>cTg,4,154,0,312
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,NLRP9,338321,19,56220329,56220329,Silent,SNP,T,C,c.(2923-2925)tcA>tcG,15,50,0,50
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,ZNF217,7764,20,52199128,52199128,Missense_Mutation,SNP,G,A,c.(238-240)Ctt>Ttt,6,147,1,110
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,Unknown,0,22,17385240,17385240,IGR,SNP,G,T,,4,116,1,555
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,WWC3,55841,X,10107492,10107492,Missense_Mutation,SNP,G,A,c.(3124-3126)Gct>Act,4,152,0,73
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,USP9X,8239,X,41029361,41029361,Missense_Mutation,SNP,G,A,c.(2749-2751)cGa>cAa,5,250,0,137
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,NRK,203447,X,105066863,105066863,Missense_Mutation,SNP,G,A,c.(25-27)Gac>Aac,14,62,0,77
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,GDAP2,54834,1,118454736,118454737,Intron,INS,-,TCGTA,,3,100,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,QPCT,25797,2,37586704,37586705,Intron,INS,-,T,,13,23,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,EPB41L5,57669,2,120844683,120844684,Intron,INS,-,T,,8,16,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,CHL1,10752,3,425455,425455,Intron,DEL,A,-,,6,36,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,WFS1,7466,4,6288662,6288662,Intron,DEL,C,-,,3,13,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,SEPSECS,51091,4,25158404,25158408,Intron,DEL,AATAA,-,,3,79,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,KIAA1109,84162,4,123150374,123150377,Frame_Shift_Del,DEL,TGGT,-,c.(3019-3024)catggtfs,37,51,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,TMEM232,642987,5,109973938,109973942,Frame_Shift_Del,DEL,GAGGG,-,c.(457-462)tccctcfs,5,233,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,CAMK4,814,5,110710582,110710584,In_Frame_Del,DEL,TTC,-,c.(274-279)gttctt>gtt,43,131,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,ROS1,6098,6,117687507,117687508,Intron,INS,-,A,,7,25,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,SLC22A2,6582,6,160670184,160670185,Intron,INS,-,G,,6,3,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,IQCE,23288,7,2641012,2641013,Intron,DEL,CA,-,,12,91,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,IDO1,3620,8,39776675,39776675,Intron,DEL,T,-,,6,39,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,SNTG1,54212,8,51503441,51503442,Frame_Shift_Ins,INS,-,A,c.(814-816)aaafs,48,96,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,COL17A1,1308,10,105798925,105798925,Intron,DEL,T,-,,24,42,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,TAS2R31,259290,12,11183573,11183574,Frame_Shift_Ins,INS,-,T,c.(361-363)ttafs,6,46,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,SMAD6,4091,15,67008708,67008712,Intron,DEL,GAGAG,-,,3,56,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,SH3GL3,6457,15,84159720,84159721,Intron,INS,-,AT,,9,20,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,TM2D3,80213,15,102192058,102192059,Intron,INS,-,A,,7,47,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,ALOX15B,247,17,7948082,7948083,Intron,INS,-,T,,3,0,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,CTC-273B12.7,0,19,48973752,48973767,Splice_Site,DEL,GGGCAGGTGAGGGCTG,-,c.(112-120)gagggcagg>gag,7,65,,
RP-1532_PCProject_0256_T1B_v1_Exome_OnPrem,RCAN1,1827,21,35895847,35895847,Frame_Shift_Del,DEL,T,-,c.(412-414)ttafs,10,73,,
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,C1orf94,84970,1,34667820,34667820,Missense_Mutation,SNP,C,A,c.(1405-1407)cCa>cAa,4,43,0,141
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,NFIA,4774,1,61331040,61331040,5'UTR,SNP,C,A,,3,34,0,90
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,SGIP1,84251,1,67101657,67101657,Missense_Mutation,SNP,A,G,c.(130-132)Agc>Ggc,12,96,0,112
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,C1orf56,54964,1,151020946,151020946,Missense_Mutation,SNP,C,G,c.(622-624)cCg>cGg,10,51,0,202
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,LCE1A,353131,1,152800028,152800028,Missense_Mutation,SNP,C,T,c.(79-81)cCt>cTt,10,40,0,251
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,INSRR,3645,1,156821203,156821203,Missense_Mutation,SNP,G,A,c.(1108-1110)Cac>Tac,6,40,0,211
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,PVRL4,81607,1,161049644,161049644,Missense_Mutation,SNP,C,T,c.(175-177)Ggc>Agc,3,27,0,186
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,ADCY10,55811,1,167868708,167868708,Missense_Mutation,SNP,G,A,c.(595-597)Cgg>Tgg,4,99,0,249
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,TEX35,84066,1,178490010,178490010,Missense_Mutation,SNP,G,A,c.(544-546)Gta>Ata,7,64,1,246
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,HMCN1,83872,1,185951515,185951515,Silent,SNP,A,T,c.(2782-2784)tcA>tcT,26,177,0,140
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,PLEKHA6,22874,1,204192616,204192616,Missense_Mutation,SNP,G,T,c.(3127-3129)agC>agA,5,60,0,309
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,NVL,4931,1,224500830,224500830,Intron,SNP,A,C,,4,50,0,89
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,RYR2,6262,1,237494202,237494202,Missense_Mutation,SNP,T,A,c.(193-195)Tgc>Agc,11,105,0,251
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,KLF11,8462,2,10186268,10186268,Intron,SNP,C,T,,10,65,0,196
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,RMDN2,151393,2,38178704,38178704,Intron,SNP,C,T,,5,103,0,37
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,USP39,10713,2,85852682,85852682,Silent,SNP,C,T,c.(589-591)ttC>ttT,9,94,1,107
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,PLEKHB2,55041,2,131878457,131878457,5'UTR,SNP,C,G,,3,48,0,158
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,BAZ2B,29994,2,160284852,160284852,Silent,SNP,C,T,c.(2332-2334)aaG>aaA,4,95,0,50
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,SATB2,23314,2,200213701,200213701,Missense_Mutation,SNP,G,A,c.(895-897)tCt>tTt,6,116,0,183
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,SNED1,25992,2,241989306,241989306,Missense_Mutation,SNP,C,T,c.(1690-1692)aCc>aTc,5,81,1,439
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,SEC13,6396,3,10357074,10357074,Nonsense_Mutation,SNP,G,T,c.(94-96)tCa>tAa,4,55,0,189
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,GOLGA4,2803,3,37327531,37327531,Silent,SNP,G,A,c.(502-504)caG>caA,3,32,0,40
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,TRAK1,22906,3,42251565,42251565,Intron,SNP,C,A,,3,27,0,123
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,SEC22C,9117,3,42599153,42599153,Missense_Mutation,SNP,C,A,c.(562-564)Ggt>Tgt,4,69,0,50
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,ARHGEF3,50650,3,56789007,56789007,Splice_Site,SNP,A,G,c.e3+1,7,60,0,151
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,EEFSEC,60678,3,127872595,127872595,Missense_Mutation,SNP,G,A,c.(244-246)gGc>gAc,20,100,1,407
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,ATP2C1,27032,3,130720178,130720178,Missense_Mutation,SNP,C,A,c.(2743-2745)tCt>tAt,4,85,0,20
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,NAALADL2,254827,3,175165145,175165145,Missense_Mutation,SNP,G,A,c.(1219-1221)Gag>Aag,4,44,0,19
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,OPA1,4976,3,193374932,193374932,Missense_Mutation,SNP,C,T,c.(2077-2079)Cat>Tat,10,50,0,21
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,STIM2,57620,4,26862675,26862675,Silent,SNP,G,A,c.(94-96)cgG>cgA,3,32,0,42
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,RP11-766F14.2,0,4,100573184,100573184,Silent,SNP,G,A,c.(2620-2622)tcC>tcT,3,42,0,299
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,TRIM60,166655,4,165962470,165962470,Missense_Mutation,SNP,G,A,c.(1246-1248)Ggt>Agt,3,44,0,53
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,PIK3R1,5295,5,67589664,67589664,Splice_Site,SNP,T,A,c.e11+2,6,51,0,36
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,MEF2C,4208,5,88026023,88026023,Intron,SNP,C,T,,6,86,0,56
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,RHOBTB3,22836,5,95066583,95066583,5'Flank,SNP,G,A,,5,45,0,85
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,TCERG1,10915,5,145851092,145851092,Silent,SNP,C,T,c.(1552-1554)gcC>gcT,3,43,0,39
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,MCHR2,84539,6,100368868,100368868,Missense_Mutation,SNP,G,A,c.(970-972)gCg>gTg,6,55,0,54
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,LAMA2,3908,6,129514008,129514008,Intron,SNP,C,T,,16,129,0,218
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,RP11-307P5.1,0,6,148051237,148051237,lincRNA,SNP,A,C,,5,56,0,57
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,RP11-307P5.1,0,6,148051238,148051238,lincRNA,SNP,A,G,,5,56,0,57
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,BZW2,28969,7,16725726,16725726,Intron,SNP,G,T,,5,108,0,158
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,CASD1,64921,7,94167122,94167122,Silent,SNP,C,T,c.(1180-1182)aaC>aaT,4,72,0,31
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,C8orf22,492307,8,49987095,49987095,3'UTR,SNP,C,A,,15,99,0,121
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,TMEM68,137695,8,56675398,56675398,Missense_Mutation,SNP,C,A,c.(121-123)Gca>Tca,4,91,0,47
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,PTK2,5747,8,141754769,141754769,Missense_Mutation,SNP,C,T,c.(1615-1617)aGc>aAc,3,37,0,20
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,ACO1,48,9,32445572,32445572,Intron,SNP,G,A,,4,48,0,37
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,COL15A1,1306,9,101751467,101751467,Missense_Mutation,SNP,G,A,c.(730-732)gGa>gAa,4,84,0,230
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,AKAP2,11217,9,112899460,112899460,Missense_Mutation,SNP,G,A,c.(943-945)Gac>Aac,5,65,0,207
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,SVEP1,79987,9,113171088,113171088,Missense_Mutation,SNP,A,C,c.(6790-6792)tgT>tgG,8,50,0,100
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,A1CF,29974,10,52573768,52573768,Missense_Mutation,SNP,C,T,c.(1195-1197)cGt>cAt,7,101,0,175
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,SEC31B,25956,10,102266179,102266179,Splice_Site,SNP,T,A,c.e8-2,4,43,0,123
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,GBF1,8729,10,104127242,104127242,Missense_Mutation,SNP,G,A,c.(2563-2565)cGc>cAc,4,35,0,74
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,PWWP2B,170394,10,134219267,134219267,Silent,SNP,G,A,c.(1261-1263)tcG>tcA,3,31,0,314
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,EIF1AD,84285,11,65766128,65766128,Missense_Mutation,SNP,G,A,c.(439-441)aCa>aTa,4,63,0,103
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,PPP6R3,55291,11,68382591,68382591,3'UTR,SNP,C,T,,3,38,0,122
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,OLR1,4973,12,10312609,10312609,Missense_Mutation,SNP,C,T,c.(691-693)cGa>cAa,7,17,0,21
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,ITGA5,3678,12,54792449,54792449,Missense_Mutation,SNP,C,T,c.(2875-2877)Gct>Act,4,63,0,188
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,PTPRQ,374462,12,80928720,80928720,Silent,SNP,A,C,c.(2875-2877)tcA>tcC,7,59,0,31
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,TMCC3,57458,12,94965489,94965489,Missense_Mutation,SNP,G,A,c.(1156-1158)Cgc>Tgc,6,30,0,110
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,TBX5,6910,12,114841578,114841578,Silent,SNP,C,T,c.(124-126)ccG>ccA,3,29,1,242
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,PXN,5829,12,120660665,120660665,Splice_Site,SNP,C,T,c.e4+1,4,45,0,187
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,C12orf43,64897,12,121441983,121441983,Silent,SNP,C,T,c.(760-762)aaG>aaA,5,50,0,292
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,SACS,26278,13,23915812,23915812,Missense_Mutation,SNP,G,T,c.(2203-2205)Ctg>Atg,4,97,0,66
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,MTUS2,23281,13,30072567,30072567,Missense_Mutation,SNP,C,T,c.(628-630)Cct>Tct,3,26,0,53
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,FREM2,341640,13,39452332,39452332,Silent,SNP,C,T,c.(8731-8733)taC>taT,7,110,0,90
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,ARHGEF7,8874,13,111944664,111944664,Silent,SNP,C,T,c.(2395-2397)atC>atT,7,36,0,88
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,MYH7,4625,14,23891436,23891436,Silent,SNP,G,T,c.(3196-3198)atC>atA,4,52,1,337
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,RPS29,6235,14,50052710,50052710,Silent,SNP,G,C,c.(118-120)cgC>cgG,4,61,0,89
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,RPS27L,51065,15,63447794,63447794,Silent,SNP,G,A,c.(250-252)ccC>ccT,3,27,0,17
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,PKD1L2,114780,16,81161623,81161623,RNA,SNP,C,T,,3,16,0,150
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,ZZEF1,23140,17,3923044,3923044,Missense_Mutation,SNP,T,C,c.(7423-7425)aAt>aGt,7,29,0,94
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,TP53,7157,17,7577538,7577538,Missense_Mutation,SNP,C,T,c.(742-744)cGg>cAg,7,66,0,288
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,IKZF3,22806,17,37947679,37947679,Silent,SNP,C,T,c.(580-582)agG>agA,6,37,0,32
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,TDRD12,91646,19,33302138,33302138,Missense_Mutation,SNP,C,A,c.(2860-2862)Caa>Aaa,10,45,0,194
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,PPP1R37,284352,19,45649190,45649190,Missense_Mutation,SNP,C,T,c.(1876-1878)Ccg>Tcg,5,47,0,250
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,PPP1R37,284352,19,45649191,45649191,Missense_Mutation,SNP,C,T,c.(1876-1878)cCg>cTg,5,44,0,250
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,ARHGAP35,2909,19,47422298,47422298,Silent,SNP,G,A,c.(364-366)gcG>gcA,5,40,0,98
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,DKKL1,27120,19,49878114,49878114,Silent,SNP,C,T,c.(556-558)ggC>ggT,5,27,0,229
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,BRSK1,84446,19,55795913,55795913,Missense_Mutation,SNP,C,T,c.(103-105)Cgg>Tgg,2,2,0,15
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,NLRP13,126204,19,56424362,56424362,Missense_Mutation,SNP,C,T,c.(820-822)aGg>aAg,7,34,0,111
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,ZNF552,79818,19,58319783,58319783,Silent,SNP,G,C,c.(847-849)ctC>ctG,4,25,0,24
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,ZNF295-AS1,150142,21,43442396,43442396,lincRNA,SNP,T,C,,5,45,0,206
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,ZNF74,7625,22,20759891,20759891,Missense_Mutation,SNP,C,T,c.(568-570)Cgc>Tgc,4,18,0,146
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,MYO18B,84700,22,26177738,26177738,Missense_Mutation,SNP,C,T,c.(2248-2250)cCg>cTg,3,12,0,45
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,DIAPH2,1730,X,96396717,96396717,Silent,SNP,C,T,c.(2641-2643)gcC>gcT,6,46,0,20
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,SPANXN4,441525,X,142113846,142113846,Missense_Mutation,SNP,C,G,c.(46-48)Ccc>Gcc,6,15,0,30
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,SPANXN4,441525,X,142113847,142113847,Missense_Mutation,SNP,C,T,c.(46-48)cCc>cTc,6,15,0,28
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,RLF,6018,1,40705306,40705306,Frame_Shift_Del,DEL,A,-,c.(4930-4932)tcafs,17,98,,
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,IQGAP3,128239,1,156531832,156531832,Intron,DEL,G,-,,3,4,,
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,MARK2,2011,11,63662815,63662816,Intron,INS,-,A,,3,17,,
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,SPTBN2,6712,11,66468820,66468821,Intron,DEL,TC,-,,3,18,,
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,COL2A1,1280,12,48387912,48387912,Intron,DEL,T,-,,4,24,,
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,ZIC5,85416,13,100623411,100623413,In_Frame_Del,DEL,AGG,-,c.(517-519)cctdel,3,15,,
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,ZNF77,58492,19,2944847,2944848,5'UTR,DEL,CG,-,,3,24,,
RP-1532_PCProject_0319_T1_v2_Exome_OnPrem,INPP5J,27124,22,31521763,31521763,Frame_Shift_Del,DEL,A,-,c.(1036-1038)cgafs,5,15,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,PADI4,23569,1,17660989,17660989,Intron,SNP,A,G,,4,12,0,46
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,HSPG2,3339,1,22166475,22166475,Silent,SNP,A,G,c.(9547-9549)taT>taC,20,84,1,272
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,GPR61,83873,1,110086923,110086923,Missense_Mutation,SNP,G,A,c.(1279-1281)Gag>Aag,4,36,0,102
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,RPTN,126638,1,152128006,152128006,Silent,SNP,A,G,c.(1567-1569)taT>taC,12,218,1,449
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,HRNR,388697,1,152193371,152193371,Missense_Mutation,SNP,C,G,c.(733-735)aGt>aCt,7,185,0,374
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,KCNK2,3776,1,215298005,215298005,Silent,SNP,T,C,c.(385-387)atT>atC,28,17,0,114
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,RPS7,6201,2,3625321,3625321,Missense_Mutation,SNP,A,C,c.(313-315)Act>Cct,23,42,0,81
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,COMMD1,150684,2,62196190,62196190,Intron,SNP,C,T,,5,60,0,57
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SLC4A5,57835,2,74477548,74477548,Silent,SNP,G,T,c.(1573-1575)atC>atA,23,69,0,137
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SLC4A5,57835,2,74489265,74489265,Splice_Site,SNP,C,T,c.(808-810)ctG>ctA,4,22,0,62
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,TTC31,64427,2,74718415,74718415,Intron,SNP,C,T,,4,60,0,151
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,AC111200.1,0,2,87092518,87092518,Missense_Mutation,SNP,G,T,c.(7-9)cGg>cTg,4,20,0,34
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,MRPS25,64432,3,15091392,15091392,3'UTR,SNP,A,G,,5,88,0,130
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SNRK,54861,3,43344793,43344793,Missense_Mutation,SNP,C,T,c.(97-99)gCc>gTc,32,43,0,115
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,LARS2,23395,3,45589014,45589014,Missense_Mutation,SNP,C,G,c.(2704-2706)Caa>Gaa,8,5,0,26
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,EPHA6,285220,3,97167509,97167509,Missense_Mutation,SNP,G,A,c.(1828-1830)cGa>cAa,6,137,0,196
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,CPOX,1371,3,98309879,98309879,Missense_Mutation,SNP,C,A,c.(676-678)gGa>gTa,9,24,0,89
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,PARP14,54625,3,122419784,122419784,Missense_Mutation,SNP,C,T,c.(2383-2385)Cgg>Tgg,5,57,0,128
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ACAD9,28976,3,128617312,128617312,Intron,SNP,G,A,,5,31,0,31
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,IL20RB,53833,3,136705588,136705588,Intron,SNP,A,G,,4,53,0,65
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,IGSF10,285313,3,151164822,151164822,Missense_Mutation,SNP,G,A,c.(2947-2949)Cct>Tct,6,88,0,144
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,TP63,8626,3,189562153,189562153,Intron,SNP,C,A,,4,23,0,32
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ATP13A3,79572,3,194219605,194219605,5'Flank,SNP,A,G,,5,131,0,68
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ZNF721,170960,4,435526,435526,Silent,SNP,T,C,c.(2692-2694)gcA>gcG,11,13,0,75
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,REST,5978,4,57797237,57797237,Missense_Mutation,SNP,A,G,c.(2212-2214)gAg>gGg,5,88,1,281
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,HERC3,8916,4,89588615,89588615,Silent,SNP,T,C,c.(1417-1419)tcT>tcC,7,18,0,67
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,RP11-43F13.3,0,5,989725,989725,RNA,SNP,T,C,,3,1,0,27
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SLC12A7,10723,5,1079607,1079607,Silent,SNP,G,A,c.(1300-1302)atC>atT,16,28,0,99
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SERF1B,728492,5,69325619,69325619,Intron,SNP,A,G,,5,130,0,193
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,BPHL,670,6,3127643,3127643,Splice_Site,SNP,G,A,c.e3+1,4,15,1,43
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,F13A1,2162,6,6174920,6174920,Missense_Mutation,SNP,C,T,c.(1639-1641)cGt>cAt,5,76,0,225
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,KIF13A,63971,6,17881756,17881756,Intron,SNP,T,C,,7,37,0,52
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,DPCR1,135656,6,30917308,30917308,Missense_Mutation,SNP,T,C,c.(1066-1068)cTa>cCa,7,180,0,321
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ANKS1A,23294,6,34973568,34973568,Intron,SNP,G,A,,5,29,0,41
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,RAB44,401258,6,36696516,36696516,Silent,SNP,A,G,c.(2515-2517)gaA>gaG,4,65,1,142
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,TNFRSF21,27242,6,47251857,47251857,Missense_Mutation,SNP,T,G,c.(1060-1062)Att>Ctt,35,63,0,241
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ARHGAP18,93663,6,129905211,129905211,Missense_Mutation,SNP,G,A,c.(1759-1761)tCg>tTg,5,52,0,93
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,MACC1,346389,7,20198537,20198537,Missense_Mutation,SNP,A,G,c.(1447-1449)Ttt>Ctt,8,11,0,65
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ZNF679,168417,7,63727074,63727074,Missense_Mutation,SNP,A,G,c.(1063-1065)Aaa>Gaa,5,83,0,195
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ZNF92,168374,7,64863773,64863773,Missense_Mutation,SNP,T,G,c.(745-747)aTa>aGa,6,156,0,215
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,KCTD7,154881,7,66238689,66238689,Missense_Mutation,SNP,G,A,c.(190-192)tGt>tAt,55,145,0,151
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,TNPO3,23534,7,128637554,128637554,Silent,SNP,C,G,c.(1045-1047)ctG>ctC,22,16,0,57
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,DGKI,9162,7,137080409,137080409,Missense_Mutation,SNP,G,A,c.(3016-3018)Cgg>Tgg,23,59,0,116
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,MKRN1,23608,7,140175083,140175083,Intron,SNP,T,C,,4,17,0,38
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,RP1L1,94137,8,10465224,10465224,Silent,SNP,C,T,c.(6382-6384)gaG>gaA,5,111,0,311
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,USP17L2,377630,8,11994886,11994886,Missense_Mutation,SNP,T,C,c.(1384-1386)Aac>Gac,10,408,1,1196
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ADAMDEC1,27299,8,24261564,24261564,Missense_Mutation,SNP,G,A,c.(1369-1371)Gga>Aga,4,63,0,110
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,CSPP1,79848,8,67987139,67987139,Intron,SNP,A,C,,4,9,0,16
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,MATN2,4147,8,99039942,99039942,Silent,SNP,C,G,c.(2239-2241)acC>acG,4,30,0,84
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,C8orf17,100507249,8,140944744,140944744,Missense_Mutation,SNP,C,T,c.(214-216)aCg>aTg,6,94,0,175
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,TLE1,7088,9,84248270,84248270,Missense_Mutation,SNP,G,A,c.(586-588)cCg>cTg,5,171,0,95
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,TRAF1,7185,9,123675995,123675995,Missense_Mutation,SNP,C,T,c.(316-318)Gag>Aag,3,3,0,22
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SEC16A,9919,9,139342784,139342784,Missense_Mutation,SNP,G,A,c.(247-249)tCc>tTc,8,187,1,290
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,MCM10,55388,10,13214733,13214733,Missense_Mutation,SNP,G,A,c.(562-564)aGg>aAg,18,31,0,98
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,CUBN,8029,10,17110093,17110093,Missense_Mutation,SNP,T,C,c.(2977-2979)tAt>tGt,5,12,0,82
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,DOCK1,1793,10,129249614,129249614,Missense_Mutation,SNP,C,G,c.(5521-5523)Ccc>Gcc,39,63,0,170
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,KRTAP5-3,387266,11,1629230,1629230,Missense_Mutation,SNP,C,G,c.(385-387)tGc>tCc,6,107,1,352
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,PDE3B,5140,11,14665819,14665819,Silent,SNP,C,A,c.(196-198)ccC>ccA,7,19,0,71
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,MS4A12,54860,11,60268625,60268625,Missense_Mutation,SNP,T,G,c.(382-384)atT>atG,14,20,1,68
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,TMEM151A,256472,11,66062227,66062227,Silent,SNP,C,T,c.(508-510)aaC>aaT,6,145,0,186
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,MAP6,4135,11,75316902,75316902,Missense_Mutation,SNP,C,T,c.(1267-1269)Gac>Aac,5,89,0,175
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ACER3,55331,11,76705232,76705232,Intron,SNP,A,G,,7,107,0,104
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,KIRREL3,84623,11,126301345,126301345,Silent,SNP,G,A,c.(1663-1665)atC>atT,5,95,1,161
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,TMTC1,83857,12,29819191,29819191,Intron,SNP,C,T,,4,34,0,28
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,KIF5A,3798,12,57965937,57965937,Nonsense_Mutation,SNP,G,T,c.(1456-1458)Gaa>Taa,38,60,0,283
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,GNPTAB,79158,12,102150242,102150242,Intron,SNP,G,C,,4,39,0,54
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,VWA8,23078,13,42164794,42164794,Silent,SNP,C,G,c.(5092-5094)cgG>cgC,8,13,0,35
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SOX21,11166,13,95363964,95363964,Missense_Mutation,SNP,C,T,c.(340-342)Ggc>Agc,5,134,0,260
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,IL25,64806,14,23845014,23845014,Missense_Mutation,SNP,G,T,c.(457-459)aaG>aaT,32,50,0,208
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,NRL,4901,14,24550457,24550457,Silent,SNP,G,A,c.(700-702)caC>caT,12,25,0,80
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,GPR137C,283554,14,53020048,53020048,Missense_Mutation,SNP,C,A,c.(181-183)ttC>ttA,10,23,0,87
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,RBM25,58517,14,73572740,73572740,Missense_Mutation,SNP,G,A,c.(1327-1329)cGa>cAa,8,186,1,147
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SYNE3,161176,14,95909485,95909485,Intron,SNP,C,A,,10,14,0,65
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,PPP1R13B,23368,14,104201525,104201525,Missense_Mutation,SNP,G,A,c.(3238-3240)cCa>cTa,27,75,0,209
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,TYRO3,7301,15,41862843,41862843,Nonsense_Mutation,SNP,G,T,c.(1525-1527)Gag>Tag,5,74,1,164
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,UBR1,197131,15,43384189,43384189,Intron,SNP,T,C,,5,120,0,101
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,TLN2,83660,15,63102192,63102192,Silent,SNP,C,T,c.(6730-6732)tgC>tgT,7,91,0,150
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,C16orf89,146556,16,5094582,5094582,3'UTR,SNP,A,G,,5,106,0,148
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,DCTN5,84516,16,23668818,23668818,Intron,SNP,A,G,,4,42,0,26
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,PLK1,5347,16,23691468,23691468,Missense_Mutation,SNP,C,T,c.(472-474)Cgg>Tgg,5,101,1,84
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SEZ6L2,26470,16,29899024,29899024,Missense_Mutation,SNP,C,T,c.(1153-1155)gGg>gAg,6,9,0,75
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SRCAP,10847,16,30748541,30748541,Missense_Mutation,SNP,C,T,c.(7180-7182)Cgt>Tgt,6,186,0,201
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,Unknown,0,16,33786287,33786287,IGR,SNP,C,A,,12,30,0,188
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ZFHX3,463,16,72992251,72992251,Missense_Mutation,SNP,G,C,c.(1792-1794)gaC>gaG,3,9,0,48
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,CBFA2T3,863,16,89016799,89016799,Intron,SNP,G,A,,18,81,1,423
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SOCS7,30837,17,36533532,36533532,Intron,SNP,C,T,,7,5,0,46
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SPOP,8405,17,47696688,47696688,Missense_Mutation,SNP,T,C,c.(259-261)tAc>tGc,19,35,0,96
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ENGASE,64772,17,77080687,77080687,Missense_Mutation,SNP,C,T,c.(1510-1512)Ccc>Tcc,13,33,0,123
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,CBX8,57332,17,77769016,77769016,Silent,SNP,C,T,c.(586-588)tcG>tcA,5,82,0,128
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,CCDC40,55036,17,78032414,78032414,Silent,SNP,G,A,c.(1279-1281)acG>acA,6,139,0,236
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,FASN,2194,17,80037417,80037417,Missense_Mutation,SNP,A,C,c.(7213-7215)aTc>aGc,21,23,0,164
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,NAPG,8774,18,10526107,10526107,Missense_Mutation,SNP,C,T,c.(7-9)gCt>gTt,14,84,0,112
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,DSC2,1824,18,28666645,28666645,Missense_Mutation,SNP,C,T,c.(835-837)cGc>cAc,14,44,0,125
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,OR7G1,125962,19,9226092,9226092,Silent,SNP,T,C,c.(346-348)gcA>gcG,12,18,0,73
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ICAM5,7087,19,10401827,10401827,Silent,SNP,T,C,c.(160-162)aaT>aaC,11,119,0,251
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,LDLR,3949,19,11201308,11201308,Intron,SNP,C,T,,6,12,0,37
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ELAVL3,1995,19,11569009,11569009,Missense_Mutation,SNP,C,T,c.(580-582)Gca>Aca,45,63,0,224
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ZNF208,7757,19,22153997,22153997,Missense_Mutation,SNP,A,G,c.(3838-3840)cTc>cCc,4,25,1,117
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ZNF729,100287226,19,22498774,22498774,Missense_Mutation,SNP,A,G,c.(2554-2556)tAc>tGc,4,79,0,272
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ZNF681,148213,19,23927395,23927395,Silent,SNP,G,A,c.(955-957)ttC>ttT,4,29,0,150
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,GPI,2821,19,34887278,34887278,Missense_Mutation,SNP,G,A,c.(1135-1137)Gtg>Atg,6,31,0,154
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,PPP1R15A,23645,19,49377469,49377469,Nonsense_Mutation,SNP,G,T,c.(979-981)Gag>Tag,16,62,1,111
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,NUP62,23636,19,50410836,50410836,3'UTR,SNP,T,C,,5,54,0,55
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ZNF649,65251,19,52394685,52394685,Missense_Mutation,SNP,C,A,c.(703-705)gGg>gTg,5,87,0,181
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,PEG3,5178,19,57326356,57326356,Nonsense_Mutation,SNP,C,A,c.(3454-3456)Gag>Tag,4,16,0,51
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,TCEAL4,79921,X,102841986,102841986,Missense_Mutation,SNP,G,A,c.(382-384)aGa>aAa,5,70,0,62
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,DFFB,1677,1,3776959,3776960,Intron,DEL,TG,-,,4,10,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,PIK3CD,5293,1,9780814,9780815,In_Frame_Ins,INS,-,CAT,c.(1537-1539)gaa>CATgaa,3,10,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SRSF4,6429,1,29475405,29475406,Frame_Shift_Ins,INS,-,A,c.(1000-1002)agcfs,5,12,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,RIMS3,9783,1,41094384,41094385,Intron,INS,-,T,,2,7,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,BTBD19,149478,1,45277902,45277905,Intron,DEL,CCAA,-,,6,2,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,VANGL2,57216,1,160390119,160390120,Intron,INS,-,T,,4,6,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ARHGAP30,257106,1,161022036,161022036,Intron,DEL,G,-,,3,12,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,MPHOSPH10,10199,2,71360637,71360637,Frame_Shift_Del,DEL,T,-,c.(697-699)gatfs,4,8,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SH3RF3,344558,2,109964464,109964465,Intron,INS,-,T,,7,0,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ATP13A4,84239,3,193272435,193272435,Intron,DEL,A,-,,9,17,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,GAK,2580,4,925997,926000,5'UTR,DEL,CGCG,-,,4,21,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,PHOX2B,8929,4,41749845,41749847,Intron,DEL,AGA,-,,4,0,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ZSWIM6,57688,5,60671567,60671568,Intron,INS,-,G,,9,65,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SH3TC2,79628,5,148442050,148442051,Intron,DEL,TG,-,,3,7,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,KIF13A,63971,6,17771477,17771477,Intron,DEL,T,-,,3,23,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SYNGAP1,8831,6,33415874,33415875,Intron,DEL,TT,-,,4,1,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,GCLC,2729,6,53371637,53371641,Intron,DEL,TGCAT,-,,4,8,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,NPC1L1,29881,7,44576110,44576111,Intron,DEL,TA,-,,3,27,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,Unknown,0,7,51457046,51457047,IGR,INS,-,GA,,3,19,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,VSTM2A,222008,7,54621540,54621540,Intron,DEL,T,-,,8,7,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,VOPP1,81552,7,55639810,55639811,Intron,INS,-,GG,,3,2,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,WBSCR17,64409,7,71176924,71176924,Intron,DEL,T,-,,8,22,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,C7orf49,78996,7,134851410,134851411,Frame_Shift_Ins,INS,-,A,c.(424-429)gaggagfs,4,16,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ZNF783,100289678,7,148963848,148963849,Intron,INS,-,C,,2,8,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ABCF2,10061,7,150916068,150916069,Intron,INS,-,G,,5,5,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,KAT6A,7994,8,41791930,41791931,In_Frame_Ins,INS,-,TGG,c.(3805-3810)gaggtg>gagCCAgtg,9,28,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,RRS1,23212,8,67342326,67342327,Frame_Shift_Ins,INS,-,A,c.(961-963)ggcfs,8,34,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,RRM2B,50484,8,103225246,103225247,Intron,INS,-,A,,2,2,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,DNAJA1,3301,9,33030024,33030025,Intron,DEL,AA,-,,4,12,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,NOL8,55035,9,95078137,95078138,Frame_Shift_Ins,INS,-,T,c.(769-771)agafs,15,43,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,MUC2,4583,11,1089090,1089091,Intron,INS,-,A,,3,12,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,KRTAP5-1,387264,11,1605942,1605943,In_Frame_Ins,INS,-,GCC,c.(535-540)tcctgt>tccGGCtgt,3,19,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,OR4D10,390197,11,59245615,59245616,In_Frame_Ins,INS,-,TGT,c.(712-717)tccacc>tcTGTcacc,4,10,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,NRXN2,9379,11,64419696,64419697,Intron,DEL,GA,-,,7,4,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,BBS1,582,11,66297196,66297197,Intron,INS,-,T,,0,6,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,PICALM,8301,11,85671626,85671627,Intron,INS,-,T,,0,3,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,AQP2,359,12,50348248,50348249,Intron,INS,-,A,,3,16,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,PAN2,9924,12,56716743,56716744,Intron,INS,-,T,,4,0,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,CCER1,196477,12,91347677,91347678,Frame_Shift_Ins,INS,-,T,c.(841-843)gagfs,5,17,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ATP7B,540,13,52516793,52516794,Intron,INS,-,G,,4,3,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,KIF26A,26153,14,104618490,104618494,Frame_Shift_Del,DEL,CTGCA,-,c.(427-432)ctgcagfs,4,145,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,MAP1A,4130,15,43814968,43814969,Frame_Shift_Ins,INS,-,A,c.(1297-1299)gatfs,3,29,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,TPM1,7168,15,63336122,63336125,Intron,DEL,GCTG,-,,5,15,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SRRM2,23524,16,2802898,2802899,Intron,INS,-,A,,3,7,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ALG1,56052,16,5123355,5123356,Intron,INS,-,G,,4,11,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,C16orf62,57020,16,19638927,19638928,Intron,INS,-,T,,4,2,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,FUS,2521,16,31199560,31199561,Intron,DEL,CC,-,,6,24,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,FUS,2521,16,31202314,31202315,In_Frame_Ins,INS,-,GGA,c.(1423-1428)ggcaga>ggGGAcaga,3,9,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,HPR,3250,16,72107674,72107675,Intron,INS,-,AC,,17,40,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SLC52A1,55065,17,4936449,4936449,Frame_Shift_Del,DEL,G,-,c.(1150-1152)ctgfs,5,28,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,COIL,8161,17,55028040,55028041,Frame_Shift_Ins,INS,-,G,c.(562-564)aagfs,2,20,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,C1QTNF1,114897,17,77039283,77039284,Intron,INS,-,AGCA,,3,8,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,C1QTNF1,114897,17,77039508,77039511,Intron,DEL,CTGT,-,,10,32,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,ZBTB7A,51341,19,4047667,4047667,3'UTR,DEL,T,-,,6,7,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,C3,718,19,6710580,6710580,Intron,DEL,A,-,,4,13,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,COMP,1311,19,18901197,18901200,Intron,DEL,TTTT,-,,6,0,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,VSTM2B,342865,19,30054685,30054686,Intron,DEL,GT,-,,1,3,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,SSC5D,284297,19,56029967,56029968,Frame_Shift_Ins,INS,-,A,c.(4324-4326)cttfs,1,1,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,PDE9A,5152,21,44179160,44179160,Frame_Shift_Del,DEL,T,-,c.(862-864)ttcfs,33,73,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,CCDC157,550631,22,30768068,30768069,Frame_Shift_Del,DEL,AA,-,c.(1126-1131)gcaaagfs,5,53,,
RP-1532_PCProject_0336_T1_v4_Exome_OnPrem,TEX13B,56156,X,107224608,107224608,Frame_Shift_Del,DEL,A,-,c.(640-642)ttgfs,5,36,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RBP7,116362,1,10067043,10067043,Intron,SNP,T,C,,9,182,1,64
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RBP7,116362,1,10067065,10067065,Intron,SNP,T,C,,9,115,0,53
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,VPS13D,55187,1,12393346,12393346,Missense_Mutation,SNP,G,T,c.(8350-8352)cGt>cTt,4,87,0,160
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C1orf134,574037,1,16555986,16555986,Missense_Mutation,SNP,C,T,c.(52-54)gGg>gAg,6,324,0,96
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PADI4,23569,1,17661018,17661018,Intron,SNP,G,A,,5,58,0,59
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PADI4,23569,1,17661023,17661023,Intron,SNP,T,C,,10,52,0,57
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GALE,2582,1,24125053,24125053,5'UTR,SNP,T,C,,6,164,1,104
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GALE,2582,1,24125066,24125066,5'UTR,SNP,A,G,,7,162,1,110
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PTP4A2,8073,1,32379786,32379786,Intron,SNP,A,G,,6,75,0,75
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,AK2,204,1,33478309,33478309,Intron,SNP,G,C,,4,56,0,50
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NFYC,4802,1,41229121,41229121,Intron,SNP,C,T,,6,146,0,57
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,EPS15,2060,1,51924181,51924181,Intron,SNP,A,G,,10,396,0,126
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,EPS15,2060,1,51924229,51924229,Intron,SNP,C,T,,10,525,0,136
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,EPS15,2060,1,51924269,51924269,Intron,SNP,G,C,,8,294,0,100
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CPT2,1376,1,53676990,53676990,Splice_Site,SNP,G,T,c.(1642-1644)atG>atT,10,61,0,74
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MROH7,374977,1,55124870,55124870,Intron,SNP,T,C,,4,26,0,24
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,OMA1,115209,1,58999958,58999958,Missense_Mutation,SNP,G,C,c.(775-777)Cga>Gga,4,15,0,71
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TGFBR3,7049,1,92266548,92266548,Intron,SNP,A,G,,8,156,0,41
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MAGI3,260425,1,114161220,114161220,Silent,SNP,T,C,c.(1141-1143)ccT>ccC,5,59,0,32
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,VPS45,11311,1,150115012,150115012,Intron,SNP,A,G,,9,288,0,72
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,VPS45,11311,1,150115078,150115078,Intron,SNP,G,A,,7,234,0,69
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MRPS21,54460,1,150276536,150276536,Intron,SNP,T,C,,5,26,0,12
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IL6R,3570,1,154410001,154410001,Intron,SNP,C,T,,9,285,0,87
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IL6R,3570,1,154410015,154410015,Intron,SNP,A,G,,10,188,0,72
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RHBG,57127,1,156341035,156341035,Intron,SNP,T,C,,5,19,0,23
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FCRL5,83416,1,157504480,157504480,Missense_Mutation,SNP,A,C,c.(1603-1605)caT>caG,6,49,0,95
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FCRL5,83416,1,157516078,157516078,Intron,SNP,G,A,,8,237,0,78
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RFWD2,64326,1,176069424,176069424,Intron,SNP,G,C,,9,182,0,33
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CEP350,9857,1,180021437,180021437,Intron,SNP,A,G,,6,92,0,64
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CACNA1E,777,1,181701777,181701777,Missense_Mutation,SNP,G,A,c.(2554-2556)cGt>cAt,3,15,0,37
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CACNA1E,777,1,181726120,181726120,Missense_Mutation,SNP,G,C,c.(4186-4188)cGc>cCc,4,128,0,208
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SMG7,9887,1,183514182,183514182,Missense_Mutation,SNP,C,T,c.(2104-2106)tCt>tTt,16,194,1,250
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,UCHL5,51377,1,192997064,192997064,Intron,SNP,G,C,,6,73,0,42
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CRB1,23418,1,197404066,197404066,Missense_Mutation,SNP,A,T,c.(3073-3075)Agt>Tgt,27,46,0,206
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IGFN1,91156,1,201179937,201179937,Missense_Mutation,SNP,G,A,c.(5914-5916)atG>atA,5,88,0,284
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NAV1,89796,1,201763336,201763336,Intron,SNP,C,G,,7,402,0,141
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IL24,11009,1,207071225,207071225,Intron,SNP,C,T,,5,256,0,90
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FAIM3,9214,1,207094684,207094684,Intron,SNP,A,G,,6,93,0,41
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C4BPB,725,1,207268863,207268863,Intron,SNP,T,G,,7,79,0,50
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CD55,1604,1,207513846,207513846,Intron,SNP,T,G,,18,453,0,136
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SYT14,255928,1,210139346,210139346,Intron,SNP,A,G,,6,191,0,62
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,EPRS,2058,1,220179485,220179485,Missense_Mutation,SNP,T,C,c.(1912-1914)gAc>gGc,6,48,0,85
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NVL,4931,1,224500725,224500725,Intron,SNP,C,G,,9,232,0,76
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,B3GALNT2,148789,1,235659562,235659562,Intron,SNP,G,A,,5,69,0,13
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,B3GALNT2,148789,1,235659574,235659574,Intron,SNP,C,T,,6,80,0,16
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF695,57116,1,247159437,247159437,Intron,SNP,A,C,,5,54,0,45
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,XDH,7498,2,31609401,31609401,Silent,SNP,C,G,c.(670-672)cgG>cgC,6,426,0,359
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,THADA,63892,2,43393844,43393844,Missense_Mutation,SNP,T,C,c.(3250-3252)Acc>Gcc,4,45,0,12
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C2orf74,339804,2,61386474,61386474,Intron,SNP,T,C,,6,120,0,35
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FAM161A,84140,2,62074128,62074128,Intron,SNP,A,G,,9,103,0,51
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,VPS54,51542,2,64169602,64169602,Silent,SNP,C,T,c.(1393-1395)gtG>gtA,5,22,0,51
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,USP39,10713,2,85858059,85858059,Missense_Mutation,SNP,C,G,c.(937-939)atC>atG,11,35,0,108
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MMADHC,27249,2,150428767,150428767,Intron,SNP,T,C,,6,104,0,60
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MYO3B,140469,2,171381118,171381118,Intron,SNP,C,T,,6,71,0,39
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TTN,7273,2,179638282,179638282,Nonsense_Mutation,SNP,G,A,c.(7501-7503)Cga>Tga,7,40,2,183
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,AOX1,316,2,201470356,201470356,Intron,SNP,G,A,,3,14,0,28
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,AOX1,316,2,201492133,201492133,Missense_Mutation,SNP,G,A,c.(2182-2184)Gtt>Att,4,52,0,74
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CASP8,841,2,202142526,202142526,Intron,SNP,T,C,,4,27,0,21
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CCNYL1,151195,2,208579148,208579148,Intron,SNP,A,G,,12,164,0,46
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RPE,6120,2,210882559,210882559,Intron,SNP,G,C,,6,250,1,45
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RQCD1,9125,2,219438804,219438804,Intron,SNP,C,T,,6,157,0,39
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RQCD1,9125,2,219438805,219438805,Intron,SNP,A,G,,6,154,0,38
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RQCD1,9125,2,219438816,219438816,Intron,SNP,T,C,,7,106,0,23
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CCDC108,255101,2,219897292,219897292,Missense_Mutation,SNP,G,A,c.(544-546)cCc>cTc,9,72,0,49
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DAW1,164781,2,228777070,228777070,Intron,SNP,G,T,,5,154,0,113
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SLC16A14,151473,2,230931433,230931433,Intron,SNP,T,C,,5,99,0,57
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,INPP5D,3635,2,234094510,234094510,Missense_Mutation,SNP,G,T,c.(2260-2262)gGa>gTa,5,24,0,26
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DTYMK,1841,2,242621666,242621666,Intron,SNP,A,G,,9,253,0,130
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,EMC3,55831,3,10023394,10023394,Intron,SNP,T,C,,6,150,0,90
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FANCD2OS,115795,3,10144692,10144692,Intron,SNP,A,G,,10,160,1,81
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NKIRAS1,28512,3,23963175,23963175,Intron,SNP,T,C,,7,136,0,68
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DYNC1LI1,51143,3,32608123,32608123,Intron,SNP,A,G,,7,80,0,64
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DYNC1LI1,51143,3,32608144,32608144,Intron,SNP,C,T,,8,175,0,80
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SCN11A,11280,3,38908847,38908847,Missense_Mutation,SNP,C,T,c.(3916-3918)Gtt>Att,4,48,1,103
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF620,253639,3,40550165,40550165,Intron,SNP,T,A,,5,72,0,76
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SETD2,29072,3,47147188,47147188,Intron,SNP,A,T,,6,210,0,96
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SETD2,29072,3,47147209,47147209,Intron,SNP,G,A,,14,142,1,70
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SETD2,29072,3,47147222,47147222,Intron,SNP,G,A,,6,109,0,58
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PTPN23,25930,3,47453579,47453579,Intron,SNP,C,G,,34,199,0,145
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,USP4,7375,3,49349977,49349977,Intron,SNP,C,T,,6,245,0,81
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PPP4R2,151987,3,73065004,73065004,Intron,SNP,C,T,,5,100,0,38
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ARL13B,200894,3,93715473,93715473,Intron,SNP,T,C,,6,318,0,96
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PHLDB2,90102,3,111667835,111667835,Silent,SNP,C,T,c.(2542-2544)tcC>tcT,5,119,0,185
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PARP14,54625,3,122439700,122439700,Intron,SNP,G,A,,8,244,0,174
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IFT122,55764,3,129178163,129178163,Intron,SNP,T,C,,5,237,0,79
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IFT122,55764,3,129178196,129178196,Intron,SNP,G,A,,5,93,0,60
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C3orf33,285315,3,155521897,155521897,Intron,SNP,A,G,,5,43,0,23
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RSRC1,51319,3,157849891,157849891,Intron,SNP,A,G,,6,221,0,66
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PHC3,80012,3,169868409,169868409,Intron,SNP,A,G,,5,18,0,13
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PLD1,5337,3,171371980,171371980,Intron,SNP,A,C,,5,62,0,36
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FNDC3B,64778,3,172035012,172035012,Intron,SNP,C,T,,4,40,0,30
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TP63,8626,3,189562017,189562017,Intron,SNP,A,G,,5,119,0,40
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ATP13A3,79572,3,194219513,194219513,5'Flank,SNP,C,T,,7,186,0,66
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ATP13A3,79572,3,194219542,194219542,5'Flank,SNP,G,A,,9,360,0,86
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,APOD,347,3,195303972,195303972,Intron,SNP,T,C,,11,117,0,26
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,APOD,347,3,195303983,195303983,Intron,SNP,G,A,,5,146,0,36
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,APOD,347,3,195303990,195303990,Intron,SNP,G,A,,6,164,0,41
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,KIAA0226,9711,3,197421036,197421036,Intron,SNP,C,A,,6,118,0,110
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF141,7700,4,352163,352163,Intron,SNP,T,C,,4,27,0,23
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TMEM175,84286,4,950316,950316,Intron,SNP,C,T,,7,148,0,73
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TMEM175,84286,4,950324,950324,Intron,SNP,A,G,,7,109,0,67
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TMEM175,84286,4,950356,950356,Intron,SNP,A,G,,4,57,0,49
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NKX1-1,54729,4,1397541,1397541,Missense_Mutation,SNP,C,T,c.(415-417)Ggc>Agc,8,1054,1,245
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,HAUS3,79441,4,2230149,2230149,3'UTR,SNP,C,T,,7,144,0,38
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CC2D2A,57545,4,15482872,15482872,Intron,SNP,T,C,,6,102,0,62
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CC2D2A,57545,4,15482893,15482893,Intron,SNP,A,G,,4,62,0,54
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SEPSECS,51091,4,25161143,25161143,Intron,SNP,G,C,,7,180,0,67
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SEPSECS,51091,4,25161196,25161196,Intron,SNP,T,C,,11,205,0,71
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SEPSECS,51091,4,25161248,25161248,Intron,SNP,A,G,,5,99,1,56
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SMIM20,389203,4,25929984,25929984,Missense_Mutation,SNP,G,T,c.(157-159)caG>caT,4,75,0,69
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RP11-431M7.3,0,4,36261544,36261544,RNA,SNP,T,C,,10,464,1,170
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C4orf19,55286,4,37462252,37462252,Intron,SNP,C,T,,7,109,0,123
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RELL1,768211,4,37624476,37624476,Intron,SNP,A,G,,8,349,0,86
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CNGA1,1259,4,47972960,47972960,5'UTR,SNP,A,G,,6,70,0,55
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CNGA1,1259,4,47972974,47972974,5'UTR,SNP,T,A,,5,91,1,54
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CNGA1,1259,4,47973070,47973070,5'UTR,SNP,C,T,,6,129,0,67
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,Unknown,0,4,57813544,57813544,IGR,SNP,G,T,,6,164,1,30
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TMPRSS11F,389208,4,68928758,68928758,Intron,SNP,G,A,,13,14,0,77
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,UGT2A1,10941,4,70501451,70501451,Intron,SNP,G,A,,5,199,0,38
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ANKRD17,26057,4,73941946,73941946,3'UTR,SNP,C,T,,10,39,0,63
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,THAP6,152815,4,76474820,76474820,Silent,SNP,T,C,c.(247-249)ctT>ctC,13,269,0,78
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,THAP6,152815,4,76474821,76474821,Missense_Mutation,SNP,A,G,c.(250-252)Act>Gct,7,257,0,76
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FRAS1,80144,4,79365260,79365260,Intron,SNP,T,C,,6,87,0,34
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C4orf36,132989,4,87811249,87811249,Intron,SNP,A,G,,7,433,1,165
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RPL34-AS1,285456,4,109462663,109462663,lincRNA,SNP,T,C,,12,42,0,23
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,OSTC,58505,4,109584406,109584406,Intron,SNP,T,C,,5,84,0,59
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,EXOSC9,5393,4,122737295,122737295,Intron,SNP,A,G,,5,118,0,38
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ETFDH,2110,4,159624661,159624661,Silent,SNP,C,T,c.(1201-1203)caC>caT,4,38,0,148
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RP11-487E13.1,0,4,178169345,178169345,Intron,SNP,C,T,,6,83,1,75
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RP11-43F13.3,0,5,989731,989731,RNA,SNP,T,C,,5,22,0,34
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SEMA5A,9037,5,9224866,9224866,Missense_Mutation,SNP,C,G,c.(565-567)gGa>gCa,4,175,0,238
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NIPBL,25836,5,37063913,37063913,Silent,SNP,C,T,c.(7882-7884)Ctg>Ttg,5,48,0,92
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CARD6,84674,5,40860169,40860169,Missense_Mutation,SNP,G,A,c.(910-912)cGt>cAt,6,170,0,101
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SERF1B,728492,5,69325679,69325679,Intron,SNP,C,T,,11,131,0,221
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SERF1B,728492,5,69325696,69325696,Intron,SNP,T,C,,10,94,0,187
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SV2C,22987,5,75648985,75648985,Nonstop_Mutation,SNP,A,G,c.(2029-2031)tgA>tgG,6,203,0,90
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MCC,4163,5,112440045,112440045,Silent,SNP,G,A,c.(463-465)tgC>tgT,4,53,0,57
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,UBE2B,7320,5,133724688,133724688,Intron,SNP,A,G,,7,80,0,36
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ANKHD1,54882,5,139910928,139910928,Intron,SNP,A,G,,5,82,0,56
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FNDC9,408263,5,156766106,156766106,IGR,SNP,G,T,,4,102,0,122
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PWWP2A,114825,5,159519975,159519975,Missense_Mutation,SNP,T,C,c.(1681-1683)aAa>aGa,11,82,0,198
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RARS,5917,5,167915266,167915266,Intron,SNP,A,G,,6,58,0,21
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ADAMTS2,9509,5,178578188,178578188,Intron,SNP,G,A,,6,42,0,17
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RUFY1,80230,5,178982685,178982685,Intron,SNP,A,G,,9,418,0,71
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,LYRM4,57128,6,5113567,5113567,Intron,SNP,A,G,,7,317,0,92
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C6orf52,347744,6,10672842,10672842,Intron,SNP,T,C,,5,211,0,139
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PHACTR1,221692,6,13196746,13196746,Intron,SNP,A,G,,5,119,0,32
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PHACTR1,221692,6,13281679,13281679,Intron,SNP,G,A,,6,68,0,8
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NUP153,9972,6,17652084,17652084,Intron,SNP,A,G,,5,143,0,80
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,KIF13A,63971,6,17881756,17881756,Intron,SNP,T,C,,15,220,0,61
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MOG,4340,6,29632488,29632488,Intron,SNP,C,T,,7,188,0,78
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MOG,4340,6,29632505,29632505,Intron,SNP,T,C,,6,115,0,69
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZFAND3,60685,6,37971479,37971479,Intron,SNP,G,A,,5,48,0,28
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZFAND3,60685,6,37971534,37971534,Intron,SNP,A,G,,11,184,0,60
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C6orf132,647024,6,42110063,42110063,Silent,SNP,G,A,c.(118-120)gcC>gcT,63,205,0,102
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,YIPF3,25844,6,43483010,43483010,Intron,SNP,G,A,,10,360,0,148
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,YIPF3,25844,6,43483020,43483020,Intron,SNP,A,G,,7,420,0,160
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MAD2L1BP,9587,6,43600992,43600992,5'Flank,SNP,T,C,,7,225,0,54
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MAD2L1BP,9587,6,43601012,43601012,5'Flank,SNP,G,T,,7,169,0,47
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MDN1,23195,6,90372613,90372613,Missense_Mutation,SNP,T,A,c.(14308-14310)gaA>gaT,5,150,0,186
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RP11-510H23.1,0,6,125232758,125232758,RNA,SNP,A,C,,6,70,0,57
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ENPP3,5169,6,131959668,131959668,Intron,SNP,T,C,,8,154,0,64
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MAP7,9053,6,136687159,136687159,Intron,SNP,G,A,,4,29,0,65
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,Unknown,0,6,141940429,141940429,IGR,SNP,G,A,,4,1,0,10
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RP11-307P5.1,0,6,148050958,148050958,lincRNA,SNP,T,C,,7,309,0,151
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RP11-307P5.1,0,6,148051129,148051129,lincRNA,SNP,A,G,,5,18,0,28
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RP11-307P5.1,0,6,148051156,148051156,lincRNA,SNP,T,G,,4,23,1,33
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SLC22A3,6581,6,160831767,160831767,Silent,SNP,C,T,c.(862-864)gtC>gtT,5,63,0,153
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C7orf10,0,7,40257091,40257091,Intron,SNP,A,G,,6,166,0,74
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,HECW1,23072,7,43562651,43562651,Intron,SNP,A,G,,6,285,0,67
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,14-Sep,346288,7,55863666,55863666,Silent,SNP,G,A,c.(1237-1239)tcC>tcT,6,211,1,288
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF273,10793,7,64383765,64383765,Intron,SNP,T,C,,13,295,0,118
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CRCP,27297,7,65595132,65595132,Intron,SNP,A,G,,5,56,0,20
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,KCTD7,154881,7,66238691,66238691,Missense_Mutation,SNP,T,C,c.(193-195)Tac>Cac,14,696,1,209
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RABGEF1,27342,7,66261850,66261850,3'UTR,SNP,A,T,,12,268,0,80
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,STAG3L2,442582,7,74299384,74299384,RNA,SNP,C,T,,11,391,1,285
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,KIAA1324L,222223,7,86556077,86556077,Silent,SNP,A,G,c.(1243-1245)ccT>ccC,4,20,0,43
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RBM48,84060,7,92163833,92163833,Missense_Mutation,SNP,G,A,c.(565-567)gGg>gAg,4,61,0,123
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CCDC132,55610,7,92949766,92949766,Intron,SNP,A,C,,4,50,0,8
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CCDC132,55610,7,92949792,92949792,Intron,SNP,C,A,,5,21,0,8
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PON2,5445,7,95064254,95064254,Missense_Mutation,SNP,G,C,c.(10-12)Ctg>Gtg,9,938,0,321
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DYNC1I1,1780,7,95739378,95739378,Missense_Mutation,SNP,A,G,c.(1804-1806)Aca>Gca,5,207,0,76
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DLX6,1750,7,96635562,96635562,Missense_Mutation,SNP,C,G,c.(271-273)caC>caG,10,583,0,123
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,LMTK2,22853,7,97736535,97736535,Missense_Mutation,SNP,C,G,c.(46-48)Ctg>Gtg,12,957,1,129
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CYP3A43,64816,7,99436337,99436337,Intron,SNP,T,A,,5,163,0,46
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CYP3A43,64816,7,99436340,99436340,Intron,SNP,C,T,,8,154,0,40
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CYP3A43,64816,7,99447708,99447708,Intron,SNP,G,T,,14,330,1,79
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TRIP6,7205,7,100468701,100468701,Intron,SNP,A,G,,9,693,0,163
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TRIP6,7205,7,100468760,100468760,Intron,SNP,G,A,,10,424,0,112
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TRIP6,7205,7,100468767,100468767,Intron,SNP,A,C,,10,376,1,104
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TRIM56,81844,7,100734923,100734923,IGR,SNP,A,G,,6,151,0,51
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TRIM56,81844,7,100734924,100734924,IGR,SNP,T,C,,13,150,0,53
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MYL10,93408,7,101272318,101272318,Intron,SNP,T,C,,5,174,0,73
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SH2B2,10603,7,101943885,101943885,Silent,SNP,G,A,c.(178-180)ccG>ccA,9,1025,0,247
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SH2B2,10603,7,101952841,101952841,Silent,SNP,T,C,c.(1105-1107)caT>caC,19,260,0,31
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PRKRIP1,79706,7,102063699,102063699,Intron,SNP,T,C,,5,51,0,24
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PRKRIP1,79706,7,102063740,102063740,Intron,SNP,C,T,,5,52,0,21
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SYPL1,6856,7,105733024,105733024,Intron,SNP,T,C,,10,100,1,45
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SYPL1,6856,7,105733064,105733064,Intron,SNP,T,A,,8,220,0,55
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SYPL1,6856,7,105733091,105733091,Intron,SNP,T,C,,6,275,0,56
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SYPL1,6856,7,105733102,105733102,Intron,SNP,T,G,,8,265,0,56
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,HBP1,26959,7,106836821,106836821,Intron,SNP,A,C,,6,70,0,38
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,METTL2B,55798,7,128142681,128142681,3'UTR,SNP,G,A,,11,286,0,100
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MKRN1,23608,7,140174198,140174198,Intron,SNP,T,C,,9,159,0,47
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MKRN1,23608,7,140175083,140175083,Intron,SNP,T,C,,6,181,0,67
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TRBV7-4,28594,7,142176624,142176624,RNA,SNP,G,A,,4,12,0,82
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NOS3,4846,7,150700294,150700294,Missense_Mutation,SNP,G,A,c.(1807-1809)aGc>aAc,8,302,0,104
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NOS3,4846,7,150700328,150700328,Silent,SNP,T,C,c.(1840-1842)acT>acC,7,322,0,115
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NOS3,4846,7,150700332,150700332,Missense_Mutation,SNP,A,G,c.(1846-1848)Acc>Gcc,8,332,0,113
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NOS3,4846,7,150700345,150700345,Missense_Mutation,SNP,T,C,c.(1858-1860)gTt>gCt,13,371,0,125
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RP11-91J19.4,0,8,424940,424940,lincRNA,SNP,A,G,,4,50,0,84
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FDFT1,2222,8,11659488,11659488,5'Flank,SNP,A,G,,7,437,0,192
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,VPS37A,137492,8,17105826,17105826,Intron,SNP,C,T,,10,526,0,145
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,VPS37A,137492,8,17105845,17105845,Intron,SNP,T,C,,11,660,0,166
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ADRA1A,148,8,26606084,26606084,Silent,SNP,C,T,c.(1063-1065)acG>acA,7,117,0,23
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ADRA1A,148,8,26606185,26606185,Missense_Mutation,SNP,T,G,c.(1348-1350)agA>agC,6,107,0,37
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ADRA1A,148,8,26606219,26606219,Missense_Mutation,SNP,A,G,c.(1315-1317)tTg>tCg,11,88,0,37
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C8orf44,56260,8,67590059,67590059,Missense_Mutation,SNP,G,A,c.(115-117)cGg>cAg,7,311,0,93
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,XKR9,389668,8,71595750,71595750,Intron,SNP,C,T,,9,516,0,126
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,XKR9,389668,8,71595847,71595847,Intron,SNP,T,C,,13,337,0,120
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZFHX4,79776,8,77620049,77620049,Silent,SNP,G,A,c.(2857-2859)caG>caA,16,167,0,230
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IMPA1,3612,8,82590835,82590835,Intron,SNP,A,G,,5,108,0,18
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,LRRC69,100130742,8,92130455,92130455,Intron,SNP,G,A,,7,265,1,104
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FAM92A1,137392,8,94736744,94736744,Intron,SNP,A,G,,10,530,1,117
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FAM92A1,137392,8,94736750,94736750,Intron,SNP,G,A,,13,507,1,119
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RIMS2,9699,8,104932955,104932955,Intron,SNP,C,T,,6,304,0,86
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RIMS2,9699,8,104932988,104932988,Intron,SNP,C,T,,6,164,0,72
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RIMS2,9699,8,104932993,104932993,Intron,SNP,G,A,,7,153,0,68
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZFPM2,23414,8,106813895,106813895,Missense_Mutation,SNP,A,T,c.(1585-1587)Agg>Tgg,25,173,0,362
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ENY2,56943,8,110355006,110355006,Nonstop_Mutation,SNP,G,T,c.(301-303)tGa>tTa,9,390,0,110
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FAM91A1,157769,8,124798264,124798264,Intron,SNP,A,G,,6,278,0,54
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FAM135B,51059,8,139379663,139379663,Intron,SNP,A,C,,8,54,0,72
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C8orf17,100507249,8,140944733,140944733,Silent,SNP,G,A,c.(202-204)gcG>gcA,8,476,1,180
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C8orf17,100507249,8,140944744,140944744,Missense_Mutation,SNP,C,T,c.(214-216)aCg>aTg,17,418,1,160
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C8orf17,100507249,8,140944745,140944745,Silent,SNP,G,A,c.(214-216)acG>acA,12,411,1,153
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PTK2,5747,8,141670709,141670709,Intron,SNP,A,C,,13,970,1,163
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GSDMD,79792,8,144642287,144642287,Intron,SNP,T,A,,5,161,0,86
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DMRT1,1761,9,842323,842323,Intron,SNP,T,C,,6,127,0,80
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FREM1,158326,9,14756405,14756405,Missense_Mutation,SNP,C,T,c.(5374-5376)Gtg>Atg,5,206,0,163
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,BNC2,54796,9,16665164,16665164,Intron,SNP,T,C,,4,27,0,33
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CNTLN,54875,9,17495001,17495001,Nonstop_Mutation,SNP,T,C,c.(4216-4218)Tga>Cga,9,192,0,48
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ACO1,48,9,32445480,32445480,Intron,SNP,C,A,,3,6,0,8
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ACO1,48,9,32445623,32445623,Intron,SNP,T,C,,6,81,0,33
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C9orf85,138241,9,74597675,74597675,Silent,SNP,T,C,c.(424-426)tcT>tcC,6,50,0,24
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SPATA31D5P,347127,9,84530031,84530031,RNA,SNP,A,G,,5,96,0,110
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IDNK,414328,9,86241515,86241515,Intron,SNP,T,A,,7,278,0,92
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IDNK,414328,9,86241584,86241584,Intron,SNP,A,G,,6,160,0,67
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FANCC,2176,9,97885751,97885751,Intron,SNP,A,G,,10,189,0,128
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ERCC6L2,375748,9,98774977,98774977,Missense_Mutation,SNP,C,T,c.(1087-1089)tCc>tTc,13,83,0,181
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C5,727,9,123762207,123762207,Intron,SNP,T,G,,6,127,0,67
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C5,727,9,123762229,123762229,Intron,SNP,T,C,,5,69,0,44
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SPTAN1,6709,9,131389342,131389342,Intron,SNP,C,T,,5,146,0,49
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PPP2R4,5524,9,131881339,131881339,Intron,SNP,A,G,,4,67,0,24
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GPR107,57720,9,132876929,132876929,Missense_Mutation,SNP,G,T,c.(1435-1437)agG>agT,5,104,0,57
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SARDH,1757,9,136590623,136590623,Intron,SNP,C,T,,7,282,0,66
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SARDH,1757,9,136590689,136590689,Intron,SNP,A,T,,10,259,0,78
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SARDH,1757,9,136590705,136590705,Intron,SNP,C,G,,11,197,0,61
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DIP2C,22982,10,370932,370932,Intron,SNP,G,A,,5,116,0,54
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PTPLA,9200,10,17657859,17657859,Intron,SNP,C,G,,7,263,0,74
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PTPLA,9200,10,17657866,17657866,Intron,SNP,C,T,,7,267,0,69
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PIP4K2A,5305,10,22896929,22896929,Missense_Mutation,SNP,T,G,c.(265-267)aAg>aCg,17,56,0,67
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,HERC4,26091,10,69755801,69755801,Intron,SNP,A,G,,7,41,0,49
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,HK1,3098,10,71052088,71052088,Silent,SNP,T,C,c.(100-102)ccT>ccC,5,102,0,55
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PSAP,5660,10,73578462,73578462,Missense_Mutation,SNP,G,A,c.(1450-1452)tCg>tTg,25,180,0,302
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ASCC1,51008,10,73862648,73862648,Silent,SNP,A,G,c.(1117-1119)agT>agC,6,123,1,53
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MCU,90550,10,74621451,74621451,Intron,SNP,T,C,,11,311,0,75
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MCU,90550,10,74621452,74621452,Intron,SNP,G,A,,12,307,0,72
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,LDB3,11155,10,88492293,88492293,Intron,SNP,A,C,,10,422,0,165
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,LDB3,11155,10,88492383,88492383,Intron,SNP,C,T,,7,96,0,101
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RPP30,10556,10,92662059,92662059,IGR,SNP,T,C,,5,162,0,61
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RP11-119K6.6,0,10,96367734,96367734,RNA,SNP,G,A,,6,234,0,70
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SORBS1,10580,10,97174405,97174405,Missense_Mutation,SNP,G,C,c.(655-657)cCc>cGc,24,148,0,125
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C10orf95,79946,10,104211930,104211930,5'Flank,SNP,G,T,,10,190,0,59
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TMEM180,79847,10,104231793,104231793,Intron,SNP,G,A,,8,232,0,122
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NEURL,0,10,105348589,105348589,Intron,SNP,A,G,,13,213,1,101
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ATRNL1,26033,10,117357246,117357246,Intron,SNP,T,C,,11,191,0,82
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ATRNL1,26033,10,117357247,117357247,Intron,SNP,G,A,,7,192,0,82
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NANOS1,340719,10,120789830,120789830,Missense_Mutation,SNP,G,A,c.(517-519)Gcc>Acc,7,114,0,16
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NSMCE4A,54780,10,123721539,123721539,Intron,SNP,T,C,,6,147,0,52
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NSMCE4A,54780,10,123721556,123721556,Intron,SNP,T,C,,8,203,0,63
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C10orf137,0,10,127445421,127445421,Intron,SNP,A,G,,4,54,0,24
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C10orf137,0,10,127445423,127445423,Intron,SNP,T,C,,5,50,0,27
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TUBGCP2,10844,10,135110847,135110847,Intron,SNP,T,A,,6,64,0,23
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IFITM3,10410,11,319993,319993,Intron,SNP,G,C,,15,46,0,110
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DEAF1,10522,11,654613,654613,Intron,SNP,A,G,,8,541,0,209
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MUC5B,727897,11,1250002,1250002,Intron,SNP,G,A,,14,131,0,90
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF195,7748,11,3383020,3383020,Missense_Mutation,SNP,T,C,c.(325-327)aAc>aGc,14,279,1,103
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF195,7748,11,3383124,3383124,Intron,SNP,A,T,,5,31,1,48
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RRM1,6240,11,4126848,4126848,Intron,SNP,C,T,,8,147,0,51
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C11orf58,10944,11,16775426,16775426,Intron,SNP,T,A,,7,161,0,53
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RPS13,6207,11,17097996,17097996,Intron,SNP,G,A,,5,42,0,19
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RPS13,6207,11,17098025,17098025,Intron,SNP,T,C,,7,100,0,32
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RPS13,6207,11,17098075,17098075,Intron,SNP,A,C,,10,252,0,50
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ELP4,26610,11,31703559,31703559,Intron,SNP,A,G,,7,104,0,37
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,LDLRAD3,143458,11,36123532,36123532,Intron,SNP,A,G,,5,26,0,19
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ARHGAP1,392,11,46699393,46699393,3'UTR,SNP,A,G,,10,79,0,32
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ARHGAP1,392,11,46699414,46699414,3'UTR,SNP,T,C,,8,156,0,54
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ARHGAP1,392,11,46699480,46699480,3'UTR,SNP,G,A,,10,437,0,97
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,OR4C13,283092,11,49974208,49974208,Missense_Mutation,SNP,G,T,c.(232-234)aaG>aaT,11,20,1,130
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FADS1,3992,11,61579389,61579389,Intron,SNP,C,T,,9,185,0,70
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SLC3A2,6520,11,62644279,62644279,Intron,SNP,A,G,,14,282,0,72
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CCDC88B,283234,11,64111489,64111489,Silent,SNP,G,A,c.(1474-1476)ccG>ccA,6,16,0,26
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NRXN2,9379,11,64390423,64390423,Silent,SNP,G,A,c.(3973-3975)gcC>gcT,118,1203,0,395
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TMEM151A,256472,11,66063018,66063018,Missense_Mutation,SNP,C,T,c.(1300-1302)aCg>aTg,19,96,0,65
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SHANK2,22941,11,70754013,70754013,Intron,SNP,T,C,,12,589,0,150
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SHANK2,22941,11,70754057,70754057,Intron,SNP,C,T,,13,428,0,118
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C2CD3,26005,11,73824631,73824631,Intron,SNP,G,A,,4,29,0,47
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RPS3,6188,11,75115868,75115868,Missense_Mutation,SNP,C,A,c.(691-693)Cca>Aca,4,47,0,51
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SYTL2,54843,11,85419139,85419139,Intron,SNP,A,G,,10,303,1,59
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TMEM135,65084,11,86889561,86889561,Intron,SNP,A,G,,6,388,1,169
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TMEM135,65084,11,86988334,86988334,Intron,SNP,T,C,,11,289,1,65
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TMEM135,65084,11,86988335,86988335,Intron,SNP,G,A,,9,290,0,67
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FAT3,120114,11,92292602,92292602,Intron,SNP,A,G,,6,162,0,50
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,BIRC3,330,11,102197494,102197494,Intron,SNP,G,A,,9,478,0,180
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MMP13,4322,11,102815867,102815867,Intron,SNP,A,G,,8,96,0,18
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ALG9,79796,11,111659194,111659194,Intron,SNP,A,G,,7,197,1,121
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ALG9,79796,11,111659195,111659195,Intron,SNP,C,T,,7,192,1,114
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SDHD,6392,11,111963916,111963916,Intron,SNP,A,G,,10,174,0,61
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PDZD3,79849,11,119059194,119059194,Silent,SNP,C,A,c.(1189-1191)atC>atA,49,128,0,100
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RP11-680F20.5,0,11,125812900,125812900,lincRNA,SNP,C,T,,51,500,0,288
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ST14,6768,11,130060506,130060506,Missense_Mutation,SNP,C,A,c.(790-792)gaC>gaA,9,893,0,277
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ERC1,23085,12,1353735,1353735,Intron,SNP,A,T,,17,361,0,135
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C1RL,51279,12,7247814,7247814,3'UTR,SNP,T,C,,5,42,0,33
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NANOGNB,360030,12,7917895,7917895,Missense_Mutation,SNP,G,A,c.(13-15)cGg>cAg,8,248,0,111
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NANOGNB,360030,12,7917905,7917905,Silent,SNP,G,A,c.(22-24)acG>acA,12,204,0,91
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NANOGNB,360030,12,7917942,7917942,Missense_Mutation,SNP,A,G,c.(61-63)Aga>Gga,5,93,0,72
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SLC2A14,144195,12,7992418,7992418,Intron,SNP,T,C,,14,399,1,148
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SLC2A14,144195,12,7992428,7992428,Intron,SNP,T,G,,8,429,0,146
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SLC2A14,144195,12,7992434,7992434,Intron,SNP,T,C,,9,434,0,145
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CLEC7A,64581,12,10277683,10277683,Intron,SNP,T,C,,6,142,0,53
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,KLRC3,3823,12,10565211,10565211,Missense_Mutation,SNP,C,T,c.(682-684)cGg>cAg,11,302,1,161
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FGD4,121512,12,32777645,32777645,Intron,SNP,C,T,,6,115,0,47
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SLC48A1,55652,12,48174625,48174625,3'UTR,SNP,T,C,,6,155,0,106
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CS,1431,12,56669803,56669803,Silent,SNP,C,T,c.(763-765)acG>acA,8,45,0,130
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PAN2,9924,12,56718793,56718793,Splice_Site,SNP,C,T,c.(1597-1599)caG>caA,4,31,0,51
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RBMS2,5939,12,56933510,56933510,Intron,SNP,A,G,,6,117,0,24
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CTD-2021H9.3,0,12,71511870,71511870,Silent,SNP,T,G,c.(91-93)ggA>ggC,5,99,0,84
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GLT8D2,83468,12,104408058,104408058,Intron,SNP,T,A,,6,356,0,94
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MMAB,326625,12,109993215,109993215,3'UTR,SNP,A,G,,5,20,0,69
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MMAB,326625,12,110007819,110007819,Intron,SNP,G,C,,5,48,0,24
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MVK,4598,12,110017067,110017067,Intron,SNP,T,C,,8,176,0,86
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IFT81,28981,12,110605712,110605712,Intron,SNP,G,A,,8,115,0,23
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IFT81,28981,12,110654361,110654361,Intron,SNP,T,C,,9,360,0,137
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IFT81,28981,12,110654386,110654386,Intron,SNP,A,G,,6,193,0,93
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ANAPC7,51434,12,110841475,110841475,Missense_Mutation,SNP,G,C,c.(58-60)ttC>ttG,146,435,1,289
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ACAD10,80724,12,112148102,112148102,Intron,SNP,A,G,,9,475,0,135
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ACAD10,80724,12,112148109,112148109,Intron,SNP,G,C,,9,431,0,128
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ACAD10,80724,12,112148158,112148158,Intron,SNP,G,C,,14,252,1,96
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ACAD10,80724,12,112148161,112148161,Intron,SNP,A,G,,8,244,0,91
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SDSL,113675,12,113863521,113863521,Intron,SNP,A,G,,9,532,0,167
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SDSL,113675,12,113863630,113863630,Intron,SNP,A,T,,9,66,1,41
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,AL021546.6,0,12,120892800,120892800,Intron,SNP,T,C,,7,237,0,73
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,AL021546.6,0,12,120892801,120892801,Intron,SNP,G,C,,7,235,0,73
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,OASL,8638,12,121469271,121469271,Missense_Mutation,SNP,G,A,c.(631-633)Cgc>Tgc,15,68,0,82
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RAN,5901,12,131358587,131358587,Intron,SNP,A,T,,9,223,0,83
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF268,10795,12,133761244,133761244,Intron,SNP,T,G,,7,203,1,56
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF268,10795,12,133761245,133761245,Intron,SNP,T,C,,8,205,1,60
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MPHOSPH8,54737,13,20245072,20245072,Intron,SNP,A,G,,7,248,0,83
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZDHHC20,253832,13,21948598,21948598,IGR,SNP,C,T,,9,253,0,98
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZDHHC20,253832,13,21948617,21948617,IGR,SNP,G,A,,8,162,0,75
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,UBAC2,337867,13,99886641,99886641,Intron,SNP,G,A,,9,72,1,37
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TMTC4,84899,13,101315286,101315286,Missense_Mutation,SNP,G,A,c.(427-429)Cac>Tac,26,130,0,220
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TPP2,7174,13,103260046,103260046,Intron,SNP,T,C,,7,226,0,89
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RPGRIP1,57096,14,21786332,21786332,Intron,SNP,T,C,,8,360,0,135
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NRL,4901,14,24579583,24579583,Intron,SNP,A,G,,8,260,0,108
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C14orf23,387978,14,29282228,29282228,Missense_Mutation,SNP,A,G,c.(172-174)Act>Gct,7,55,0,34
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,STRN3,29966,14,31405752,31405752,Missense_Mutation,SNP,C,T,c.(793-795)atG>atA,4,54,0,84
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,INSM2,84684,14,36004394,36004394,Nonsense_Mutation,SNP,G,A,c.(934-936)tgG>tgA,66,350,0,198
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C14orf105,55195,14,57942318,57942318,Intron,SNP,G,A,,5,36,0,28
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C14orf105,55195,14,57942341,57942341,Intron,SNP,T,C,,5,54,0,33
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SLC38A6,145389,14,61545578,61545578,Silent,SNP,T,C,c.(1339-1341)caT>caC,7,243,0,59
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RAD51B,5890,14,69061302,69061302,Silent,SNP,T,C,c.(1135-1137)caT>caC,10,288,0,132
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RGS6,9628,14,72961910,72961910,Missense_Mutation,SNP,C,A,c.(904-906)cCa>cAa,15,136,0,185
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,AHSA1,10598,14,77935270,77935270,Intron,SNP,G,C,,4,44,0,12
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ADCK1,57143,14,78294233,78294233,Intron,SNP,G,A,,5,196,0,69
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ADCK1,57143,14,78294258,78294258,Intron,SNP,A,G,,5,119,0,48
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ADCK1,57143,14,78294297,78294297,Intron,SNP,A,G,,6,40,0,38
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C14orf2,9556,14,104380950,104380950,Intron,SNP,T,C,,5,105,0,58
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C14orf2,9556,14,104380967,104380967,Intron,SNP,A,G,,5,79,0,40
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,AHNAK2,113146,14,105416770,105416770,Missense_Mutation,SNP,G,C,c.(5017-5019)cCa>cGa,86,595,0,527
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,AHNAK2,113146,14,105416771,105416771,Missense_Mutation,SNP,G,A,c.(5017-5019)Cca>Tca,87,594,0,527
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,KIAA0125,9834,14,106388123,106388123,Missense_Mutation,SNP,C,T,c.(217-219)aCg>aTg,13,160,0,146
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PPP1R14D,54866,15,41109471,41109471,Intron,SNP,A,C,,8,273,0,53
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NDUFAF1,51103,15,41686475,41686475,Intron,SNP,G,A,,8,278,0,140
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,UBR1,197131,15,43384174,43384174,Intron,SNP,T,C,,19,524,1,112
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PPIP5K1,9677,15,43828338,43828338,Intron,SNP,T,C,,8,180,0,83
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PPIP5K1,9677,15,43828345,43828345,Intron,SNP,G,A,,7,160,0,78
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GALK2,2585,15,49487367,49487367,Intron,SNP,G,C,,5,159,0,72
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RNF111,54778,15,59385673,59385673,Intron,SNP,A,G,,8,233,0,112
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PIF1,80119,15,65113420,65113420,Silent,SNP,A,G,c.(1030-1032)ttT>ttC,31,184,0,182
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CCDC33,80125,15,74626275,74626275,Silent,SNP,C,T,c.(1990-1992)caC>caT,5,60,0,77
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,UNC45A,55898,15,91496462,91496462,Silent,SNP,G,A,c.(2497-2499)ctG>ctA,5,143,0,119
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DNM1P46,196968,15,100330531,100330531,RNA,SNP,T,C,,14,110,0,66
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DNM1P46,196968,15,100330595,100330595,RNA,SNP,G,A,,5,81,0,84
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CTD-2054N24.2,0,15,100353197,100353197,Missense_Mutation,SNP,T,G,c.(151-153)aTg>aGg,10,360,0,232
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CAPN15,6650,16,603008,603008,Missense_Mutation,SNP,T,C,c.(3049-3051)cTg>cCg,39,100,0,71
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PTX4,390667,16,1536306,1536306,Silent,SNP,G,A,c.(1069-1071)gaC>gaT,96,712,0,299
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF205,7755,16,3160890,3160890,5'Flank,SNP,C,T,,5,90,0,36
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C16orf89,146556,16,5094586,5094586,Nonstop_Mutation,SNP,A,G,c.(1207-1209)Tag>Cag,8,254,0,206
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PARN,5073,16,14726255,14726255,5'Flank,SNP,G,C,,11,202,0,101
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C16orf62,57020,16,19589635,19589635,Intron,SNP,A,G,,8,156,0,116
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CDIPT,10423,16,29872375,29872375,Intron,SNP,C,A,,4,36,0,60
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FUS,2521,16,31205733,31205733,IGR,SNP,T,C,,5,143,0,116
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ORC6,23594,16,46731749,46731749,3'UTR,SNP,G,A,,5,157,0,198
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ADCY7,113,16,50323213,50323213,Intron,SNP,T,C,,5,100,0,57
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RPGRIP1L,23322,16,53656186,53656186,Missense_Mutation,SNP,A,G,c.(3376-3378)tTt>tCt,8,254,0,70
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NUP93,9688,16,56876534,56876534,Intron,SNP,A,G,,8,403,0,131
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NUP93,9688,16,56876583,56876583,Intron,SNP,C,G,,8,197,1,114
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,VPS4A,27183,16,69357589,69357589,Intron,SNP,C,A,,7,231,0,118
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,VAC14,55697,16,70802752,70802752,Intron,SNP,A,G,,5,195,1,73
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF23,7571,16,71484594,71484594,Intron,SNP,T,C,,7,270,0,85
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF23,7571,16,71484595,71484595,Intron,SNP,T,C,,7,263,0,84
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NPIPB15,440348,16,74415469,74415469,Missense_Mutation,SNP,T,A,c.(121-123)gTt>gAt,6,300,0,508
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GSE1,23199,16,85705798,85705798,Intron,SNP,C,A,,4,108,0,33
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TRPV3,162514,17,3449999,3449999,Intron,SNP,T,C,,5,169,0,93
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PIP4K2B,8396,17,36932327,36932327,Intron,SNP,G,A,,6,209,0,88
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ERBB2,2064,17,37871696,37871696,Intron,SNP,C,T,,5,158,0,189
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DUSP3,1845,17,41851421,41851421,Intron,SNP,G,A,,6,39,0,17
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RP11-156P1.2,0,17,45043897,45043897,Intron,SNP,C,T,,8,257,1,103
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TMEM104,54868,17,72773796,72773796,Intron,SNP,C,T,,6,147,0,106
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GRIN2C,2905,17,72839462,72839462,Silent,SNP,C,T,c.(2812-2814)ccG>ccA,5,92,0,134
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,EVPL,2125,17,74005131,74005131,Silent,SNP,G,A,c.(4153-4155)cgC>cgT,71,406,0,228
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,BAIAP2,10458,17,79060288,79060288,Missense_Mutation,SNP,G,A,c.(397-399)Gcc>Acc,38,213,0,140
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ASPSCR1,79058,17,79967890,79967890,Intron,SNP,G,A,,9,157,0,44
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IMPA2,3613,18,12017706,12017706,Intron,SNP,T,G,,6,43,1,39
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TCF4,6925,18,53263392,53263392,Intron,SNP,T,C,,5,205,0,72
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RP11-35G9.5,0,18,55309203,55309203,RNA,SNP,T,G,,10,386,0,131
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MBD3,53615,19,1575285,1575285,IGR,SNP,T,C,,12,301,0,86
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TBXA2R,6915,19,3594958,3594958,3'UTR,SNP,A,G,,8,466,0,153
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,HDGFRP2,0,19,4496940,4496940,Intron,SNP,A,G,,10,141,0,53
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,HDGFRP2,0,19,4497032,4497032,Intron,SNP,T,C,,5,77,0,37
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SLC25A23,79085,19,6438742,6438742,IGR,SNP,A,C,,7,54,0,17
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ARHGEF18,23370,19,7537774,7537774,IGR,SNP,C,G,,4,22,0,29
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TYK2,7297,19,10480448,10480448,Intron,SNP,A,G,,6,146,0,81
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TYK2,7297,19,10480485,10480485,Intron,SNP,T,C,,5,82,0,50
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,EPOR,2057,19,11491888,11491888,Intron,SNP,G,C,,73,353,0,272
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF788,388507,19,12204991,12204991,Intron,SNP,T,G,,8,95,0,38
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF709,163051,19,12661357,12661357,Intron,SNP,T,C,,5,177,0,40
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GIPC1,10755,19,14593572,14593572,Missense_Mutation,SNP,T,A,c.(217-219)Atc>Ttc,86,515,0,306
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ARMC6,93436,19,19148427,19148427,Intron,SNP,G,A,,5,201,0,78
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RFXANK,8625,19,19311638,19311638,Intron,SNP,G,A,,7,46,0,9
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GATAD2A,54815,19,19551340,19551340,Intron,SNP,A,T,,10,123,0,36
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF729,100287226,19,22498774,22498774,Missense_Mutation,SNP,A,G,c.(2554-2556)tAc>tGc,4,98,1,345
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF99,7652,19,22937025,22937025,IGR,SNP,T,C,,6,148,0,81
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NFKBID,84807,19,36381515,36381515,Intron,SNP,T,C,,10,408,0,213
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,WDR62,284403,19,36595804,36595804,Silent,SNP,G,T,c.(4429-4431)ctG>ctT,35,330,0,250
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF829,374899,19,37406725,37406725,Intron,SNP,T,C,,7,195,0,72
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF829,374899,19,37406749,37406749,Intron,SNP,G,A,,8,370,0,111
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,HKR1,284459,19,37850414,37850414,Intron,SNP,C,T,,8,93,0,34
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SPTBN4,57731,19,41072975,41072975,Intron,SNP,C,G,,8,309,0,96
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,BCKDHA,593,19,41924703,41924703,Intron,SNP,T,C,,9,126,0,74
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CEACAM1,634,19,43020933,43020933,Intron,SNP,T,C,,4,31,0,34
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CEACAM1,634,19,43020934,43020934,Intron,SNP,T,C,,6,30,0,34
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PPP5D1,100506012,19,47028913,47028913,Intron,SNP,G,A,,7,68,0,115
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TPRX1,284355,19,48305297,48305297,Missense_Mutation,SNP,G,A,c.(970-972)cCa>cTa,3,15,0,48
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CTC-301O7.4,0,19,49835539,49835539,lincRNA,SNP,T,C,,8,110,0,129
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CTC-301O7.4,0,19,49835551,49835551,lincRNA,SNP,C,T,,5,89,0,123
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IL4I1,259307,19,50397652,50397652,Missense_Mutation,SNP,G,A,c.(439-441)aCg>aTg,151,522,0,345
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF701,55762,19,53075559,53075559,Missense_Mutation,SNP,C,T,c.(64-66)tCg>tTg,8,124,0,60
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF701,55762,19,53075587,53075587,Silent,SNP,T,C,c.(91-93)ggT>ggC,6,268,1,77
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NLRP12,91662,19,54308870,54308870,Intron,SNP,G,C,,6,122,0,64
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NLRP12,91662,19,54308943,54308943,Intron,SNP,G,T,,6,214,0,43
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,LENG8,114823,19,54967153,54967153,Missense_Mutation,SNP,C,T,c.(1033-1035)Cgg>Tgg,11,313,0,160
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CTD-2583A14.10,0,19,58331306,58331306,Missense_Mutation,SNP,C,T,c.(25-27)cCt>cTt,39,467,0,227
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF814,730051,19,58385832,58385832,Missense_Mutation,SNP,A,G,c.(925-927)gTt>gCt,5,21,0,163
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZSCAN18,65982,19,58596393,58596393,Nonsense_Mutation,SNP,G,A,c.(1192-1194)Cag>Tag,16,111,0,129
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ATRN,8455,20,3596494,3596494,Intron,SNP,G,A,,9,374,0,121
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ATRN,8455,20,3596497,3596497,Intron,SNP,G,A,,8,354,0,117
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ITCH,83737,20,33004959,33004959,Missense_Mutation,SNP,A,G,c.(511-513)aAt>aGt,19,566,0,111
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SRSF6,6431,20,42089198,42089198,Missense_Mutation,SNP,A,C,c.(634-636)Agc>Cgc,8,35,0,78
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,BCAS4,55653,20,49492562,49492562,Missense_Mutation,SNP,G,A,c.(517-519)cGc>cAc,7,342,0,133
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MRAP,56246,21,33679041,33679041,Missense_Mutation,SNP,C,T,c.(196-198)cCg>cTg,55,302,1,369
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TMPRSS3,64699,21,43792471,43792471,3'UTR,SNP,G,C,,7,484,0,152
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TMPRSS3,64699,21,43792529,43792529,3'UTR,SNP,T,C,,6,202,0,125
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TMPRSS3,64699,21,43792593,43792593,3'UTR,SNP,A,C,,6,261,1,161
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DIP2A,23181,21,47976324,47976324,Intron,SNP,T,C,,5,86,0,76
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PPIL2,23759,22,22040008,22040008,3'UTR,SNP,A,G,,6,97,0,77
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,Unknown,0,22,24268689,24268689,IGR,SNP,A,T,,6,157,1,59
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SPECC1L,23384,22,24739531,24739531,Intron,SNP,T,C,,4,72,0,54
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,Unknown,0,22,28208681,28208681,IGR,SNP,C,T,,5,62,0,38
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ASCC2,84164,22,30218037,30218037,Intron,SNP,T,C,,3,17,0,43
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ASCC2,84164,22,30218048,30218048,Intron,SNP,A,G,,3,14,0,33
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TOM1,10043,22,35727319,35727319,Intron,SNP,A,G,,13,368,0,127
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MGAT3,4248,22,39882255,39882255,Intron,SNP,T,C,,6,118,0,67
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C22orf26,0,22,46447720,46447720,Missense_Mutation,SNP,T,C,c.(403-405)gAa>gGa,11,279,1,129
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C22orf26,0,22,46447728,46447728,Missense_Mutation,SNP,A,T,c.(394-396)aaT>aaA,14,235,0,127
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CSF2RA,1438,X,1428506,1428506,3'UTR,SNP,G,A,,7,379,0,156
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FRMPD4,9758,X,12734739,12734739,Missense_Mutation,SNP,G,A,c.(2161-2163)Gat>Aat,38,101,0,144
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RGN,9104,X,46951552,46951552,Missense_Mutation,SNP,G,C,c.(787-789)Gcc>Ccc,4,56,0,53
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TSPYL2,64061,X,53115192,53115192,Missense_Mutation,SNP,G,T,c.(1618-1620)Ggc>Tgc,5,55,0,63
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,KDM5C,8242,X,53247882,53247882,Intron,SNP,T,C,,4,68,0,32
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CUL4B,8450,X,119677607,119677607,Missense_Mutation,SNP,T,C,c.(1285-1287)Att>Gtt,6,24,0,66
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,XIAP,331,X,123046720,123046720,3'UTR,SNP,A,G,,6,218,0,39
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,XIAP,331,X,123047141,123047141,3'UTR,SNP,C,G,,8,141,0,65
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GYG2P1,352887,Y,14518277,14518277,RNA,SNP,A,C,,7,241,0,87
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,UTY,7404,Y,15435080,15435080,Intron,SNP,A,C,,5,38,0,20
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,EIF1AY,9086,Y,22751366,22751366,Intron,SNP,T,C,,4,25,0,44
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PINK1,65018,1,20971953,20971954,Intron,INS,-,C,,6,64,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SLC9A1,6548,1,27434056,27434057,Intron,INS,-,A,,3,27,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZMYM4,9202,1,35873590,35873590,Intron,DEL,G,-,,3,16,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CAP1,10487,1,40527557,40527558,Intron,INS,-,G,,3,14,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RIMS3,9783,1,41094384,41094385,Intron,INS,-,T,,1,57,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,STRIP1,85369,1,110586197,110586201,Intron,DEL,GGCTG,-,,4,80,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,AMPD1,270,1,115222820,115222821,Intron,INS,-,GTT,,3,19,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,HAO2,51179,1,119929495,119929495,Intron,DEL,C,-,,3,9,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PRUNE,58497,1,150990916,150990917,Intron,INS,-,AC,,3,8,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SELENBP1,8991,1,151345166,151345167,5'UTR,INS,-,A,,115,103,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RORC,6097,1,151804006,151804007,Intron,INS,-,GC,,1,16,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IGSF9,57549,1,159898931,159898932,Intron,DEL,GA,-,,0,6,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,VANGL2,57216,1,160390119,160390120,Intron,INS,-,T,,6,30,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PKP1,5317,1,201262936,201262937,Intron,INS,-,T,,5,9,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,OPTC,26254,1,203469109,203469111,Intron,DEL,CAT,-,,3,21,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ATP2B4,493,1,203691519,203691521,Intron,DEL,ATA,-,,0,5,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DISP1,84976,1,223163920,223163920,Intron,DEL,C,-,,17,106,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C1orf35,79169,1,228289135,228289136,Frame_Shift_Ins,INS,-,C,c.(571-573)aaafs,3,103,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FNDC4,64838,2,27719990,27719991,5'Flank,INS,-,T,,3,12,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,BIRC6,57448,2,32701460,32701461,Intron,INS,-,TTA,,3,10,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CAMKMT,79823,2,44934640,44934642,Intron,DEL,ATT,-,,3,18,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NRXN1,9378,2,50765378,50765381,Intron,DEL,TTTA,-,,3,4,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,KANSL3,55683,2,97275091,97275092,Intron,INS,-,C,,3,1,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MGAT5,4249,2,135170423,135170423,Intron,DEL,G,-,,3,13,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ACMSD,130013,2,135659422,135659423,Frame_Shift_Del,DEL,TT,-,c.(1003-1005)tttfs,4,13,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NEB,4703,2,152490167,152490168,Intron,INS,-,T,,6,11,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PDK1,5163,2,173429201,173429202,Intron,INS,-,C,,4,4,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,HNRNPA3,220988,2,178083774,178083775,In_Frame_Ins,INS,-,ATC,c.(970-975)ggtggt>ggATCtggt,1,6,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DFNB59,494513,2,179323434,179323435,Intron,INS,-,C,,5,17,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GULP1,51454,2,189447047,189447048,Intron,INS,-,CCA,,3,9,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,USP37,57695,2,219414447,219414448,Intron,INS,-,A,,5,15,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,STK36,27148,2,219555142,219555143,Intron,INS,-,C,,5,42,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GORASP1,64689,3,39144091,39144091,Intron,DEL,A,-,,3,14,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF620,253639,3,40553195,40553195,Intron,DEL,A,-,,4,13,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,USP4,7375,3,49323743,49323744,Frame_Shift_Ins,INS,-,C,c.(1987-1989)gaafs,4,82,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,LSMEM2,132228,3,50316783,50316784,Intron,INS,-,GA,,3,0,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CADPS,8618,3,62860162,62860163,Intron,INS,-,T,,7,16,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FOXP1,27086,3,71179580,71179581,Intron,INS,-,G,,4,24,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MORC1,27136,3,108746551,108746552,Intron,DEL,AG,-,,5,31,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GOLGB1,2804,3,121441075,121441076,Intron,INS,-,T,,7,24,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PARP9,83666,3,122254952,122254954,Intron,DEL,TCT,-,,4,18,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,HSPBAP1,79663,3,122477430,122477431,Intron,INS,-,A,,5,0,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ROPN1,54763,3,123688117,123688118,Intron,INS,-,A,,3,9,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SLC9A9,285195,3,142985834,142985835,Intron,INS,-,AT,,3,12,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,P2RY13,53829,3,151046771,151046772,Frame_Shift_Ins,INS,-,G,c.(70-75)accacafs,4,19,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,VEPH1,79674,3,157099241,157099242,Intron,INS,-,T,,1,1,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,LIPH,200879,3,185252760,185252761,Frame_Shift_Ins,INS,-,G,c.(208-210)aaafs,3,10,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,UTS2B,257313,3,190991186,190991186,Intron,DEL,T,-,,1,3,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PHOX2B,8929,4,41749845,41749847,Intron,DEL,AGA,-,,3,14,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,KIT,3815,4,55598240,55598240,Intron,DEL,A,-,,8,27,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ARL9,132946,4,57389902,57389903,Frame_Shift_Ins,INS,-,T,c.(232-234)gctfs,3,20,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CTSO,1519,4,156864292,156864293,Intron,DEL,CA,-,,3,3,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FAM198B,51313,4,159052042,159052046,Frame_Shift_Del,DEL,GATAA,-,c.(1243-1248)attatcfs,5,116,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GPM6A,2823,4,176561801,176561802,Intron,INS,-,T,,4,4,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FAM134B,54463,5,16483628,16483629,Intron,DEL,CA,-,,4,22,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,Unknown,0,5,32689457,32689458,IGR,INS,-,C,,3,0,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CMYA5,202333,5,79034468,79034468,Frame_Shift_Del,DEL,A,-,c.(9880-9882)agtfs,4,26,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MSH3,4437,5,80109612,80109612,Intron,DEL,C,-,,3,23,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TMEM232,642987,5,109973938,109973942,Frame_Shift_Del,DEL,GAGGG,-,c.(457-462)tccctcfs,3,42,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,Unknown,0,5,110285503,110285504,IGR,INS,-,TC,,8,29,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,BRD8,10902,5,137495375,137495376,Intron,INS,-,A,,5,10,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FAT2,2196,5,150946708,150946708,Frame_Shift_Del,DEL,C,-,c.(1783-1785)cagfs,4,11,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SYNGAP1,8831,6,33415874,33415875,Intron,DEL,TT,-,,4,5,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GCLC,2729,6,53371637,53371641,Intron,DEL,TGCAT,-,,5,7,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RIMS1,22999,6,72597072,72597073,Intron,INS,-,C,,1,1,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RPF2,84154,6,111318264,111318265,Intron,INS,-,A,,2,1,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RFX6,222546,6,117198355,117198359,5'Flank,DEL,GCCCC,-,,4,145,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,EYA4,2070,6,133849806,133849807,Intron,INS,-,C,,23,71,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IQCE,23288,7,2641012,2641013,Intron,DEL,CA,-,,6,37,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TRGC1,6966,7,38305130,38305132,RNA,DEL,TCT,-,,9,43,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,WBSCR17,64409,7,71176924,71176924,Intron,DEL,T,-,,20,124,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ABCB4,5244,7,87056026,87056027,Intron,INS,-,C,,5,25,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,AKAP9,10142,7,91730129,91730130,Intron,INS,-,C,,4,52,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PON3,5446,7,94996565,94996565,Intron,DEL,C,-,,3,7,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,23,23,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FBXL13,222235,7,102467450,102467451,Intron,INS,-,G,,2,2,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SLC26A5,375611,7,103029627,103029632,Intron,DEL,AGTGTG,-,,5,62,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,COG5,10466,7,107167908,107167908,Intron,DEL,T,-,,3,8,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ABCF2,10061,7,150916068,150916069,Intron,INS,-,G,,0,15,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FDFT1,2222,8,11687990,11687991,Intron,DEL,GT,-,,5,8,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ADAM28,10863,8,24197098,24197099,Intron,INS,-,C,,3,13,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NRG1,3084,8,32607160,32607160,Intron,DEL,T,-,,7,8,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,HTRA4,203100,8,38836869,38836869,Intron,DEL,A,-,,5,14,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,UBXN2B,137886,8,59337860,59337861,Intron,INS,-,T,,2,22,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C8orf34,116328,8,69445218,69445218,Splice_Site,DEL,C,-,c.(679-681)agc>ag,3,6,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SLC26A7,115111,8,92406396,92406397,Intron,INS,-,T,,3,10,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,OC90,729330,8,133041490,133041491,Intron,INS,-,GG,,5,49,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NDRG1,10397,8,134296324,134296326,Intron,DEL,CTA,-,,1,9,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF7,7553,8,146067042,146067043,Frame_Shift_Ins,INS,-,A,c.(550-552)cttfs,8,40,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RFX3,5991,9,3248145,3248145,Frame_Shift_Del,DEL,T,-,c.(1855-1857)agcfs,3,16,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GLDC,2731,9,6539965,6539965,Intron,DEL,C,-,,4,23,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IFT74,80173,9,26980434,26980435,Intron,INS,-,TA,,8,17,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SLC44A1,23446,9,108123648,108123649,Intron,INS,-,C,,0,2,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CDK5RAP2,55755,9,123291128,123291128,Intron,DEL,C,-,,4,26,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FNBP1,23048,9,132671145,132671146,Intron,INS,-,TT,,4,17,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NUP214,8021,9,134019720,134019721,Frame_Shift_Ins,INS,-,C,c.(1348-1350)tctfs,3,101,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ADAMTS13,11093,9,136304706,136304706,Intron,DEL,A,-,,5,16,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FAM208B,54906,10,5784147,5784148,Frame_Shift_Ins,INS,-,ACATG,c.(2416-2418)aaafs,3,54,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CDC123,8872,10,12277184,12277185,Intron,INS,-,A,,4,6,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RET,5979,10,43615375,43615375,Intron,DEL,T,-,,2,18,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,A1CF,29974,10,52603959,52603960,Intron,INS,-,T,,4,17,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,LIPN,643418,10,90521131,90521132,5'Flank,INS,-,G,,0,18,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TNKS2,80351,10,93614796,93614797,Frame_Shift_Ins,INS,-,C,c.(2827-2829)tatfs,4,22,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,KIF11,3832,10,94410125,94410125,Intron,DEL,G,-,,4,18,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C10orf76,79591,10,103769877,103769878,Intron,DEL,TT,-,,3,4,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DOCK1,1793,10,128830037,128830038,Intron,INS,-,A,,4,23,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,AP2A2,161,11,995583,995584,Intron,DEL,GT,-,,7,5,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RRP8,23378,11,6623050,6623051,Intron,DEL,CA,-,,3,2,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RP11-35J10.5,0,11,7727801,7727802,lincRNA,INS,-,T,,3,6,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,BDNF,627,11,27720770,27720771,Intron,INS,-,GC,,0,6,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CAT,847,11,34472760,34472761,Intron,INS,-,G,,3,11,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,OR4C15,81309,11,55322360,55322360,Frame_Shift_Del,DEL,T,-,c.(577-579)ctcfs,4,19,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TCN1,6947,11,59626441,59626441,Intron,DEL,A,-,,4,36,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FADS1,3992,11,61579378,61579379,Intron,INS,-,GATGG,,6,146,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NRXN2,9379,11,64419696,64419697,Intron,DEL,GA,-,,8,50,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RASGRP2,10235,11,64509156,64509157,Intron,DEL,CT,-,,0,20,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,LTBP3,4054,11,65319301,65319302,Intron,INS,-,AG,,5,12,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GRM5,2915,11,88658757,88658758,Intron,INS,-,A,,7,6,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FAM76B,143684,11,95504709,95504710,3'UTR,INS,-,C,,3,15,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DYNC2H1,79659,11,103023059,103023060,Intron,INS,-,AC,,4,9,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C11orf53,341032,11,111152065,111152066,Intron,INS,-,G,,4,12,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,OR8B12,219858,11,124412898,124412902,Frame_Shift_Del,DEL,GCATA,-,c.(649-654)tatgccfs,4,53,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ROBO4,54538,11,124766717,124766718,Intron,INS,-,C,,11,39,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GLB1L2,89944,11,134240018,134240019,Intron,DEL,GG,-,,10,1,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,Unknown,0,12,9180463,9180465,IGR,DEL,CCT,-,,3,13,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,KLRB1,3820,12,9752308,9752308,Intron,DEL,T,-,,3,11,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TAS2R31,259290,12,11183573,11183574,Frame_Shift_Ins,INS,-,T,c.(361-363)ttafs,4,14,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MGP,4256,12,15038574,15038575,Intron,DEL,GA,-,,5,22,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PLCZ1,89869,12,18836441,18836442,Intron,INS,-,T,,4,9,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PPHLN1,51535,12,42826069,42826070,Intron,INS,-,C,,3,4,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,KMT2D,8085,12,49426710,49426710,Frame_Shift_Del,DEL,A,-,c.(11776-11778)cttfs,77,167,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,AQP2,359,12,50348248,50348249,Intron,INS,-,A,,7,51,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CD63,967,12,56119452,56119453,Intron,INS,-,T,,3,39,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PAN2,9924,12,56716743,56716744,Intron,INS,-,T,,5,12,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,R3HDM2,22864,12,57693288,57693292,Intron,DEL,GGGGA,-,,3,15,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SYCP3,50511,12,102131502,102131503,Intron,INS,-,T,,5,18,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MMAB,326625,12,110004718,110004719,Intron,INS,-,C,,4,14,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,KSR2,283455,12,118111993,118111994,Intron,INS,-,T,,4,8,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZAR1L,646799,13,32884955,32884956,Intron,INS,-,T,,3,8,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ATP7B,540,13,52516793,52516794,Intron,INS,-,G,,2,25,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SCEL,8796,13,78130663,78130664,Intron,INS,-,ACG,,3,2,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,IPO5,3843,13,98621961,98621962,Intron,INS,-,T,,5,36,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TM9SF2,9375,13,100191691,100191692,Intron,INS,-,C,,4,21,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TEP1,7011,14,20874341,20874341,Intron,DEL,A,-,,5,12,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NPAS3,64067,14,33836480,33836481,Intron,INS,-,ATAAC,,3,48,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SYNE2,23224,14,64681853,64681854,Intron,INS,-,G,,3,3,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MTHFD1,4522,14,64924854,64924854,Intron,DEL,T,-,,5,33,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MAP3K9,4293,14,71206586,71206586,Intron,DEL,A,-,,0,20,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TSHR,7253,14,81610487,81610488,Frame_Shift_Ins,INS,-,AT,c.(2086-2088)tttfs,3,13,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TRIP11,9321,14,92493073,92493074,Intron,INS,-,A,,1,43,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ATG2B,55102,14,96777860,96777860,Intron,DEL,A,-,,3,20,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MFAP1,4236,15,44102128,44102129,Intron,INS,-,T,,3,20,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PYGO1,26108,15,55838236,55838237,In_Frame_Ins,INS,-,CAT,c.(1243-1245)gtg>gtATGg,4,9,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,DENND4A,10260,15,66063820,66063820,Intron,DEL,A,-,,4,30,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,BTBD1,53339,15,83687432,83687433,Intron,DEL,AT,-,,4,13,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,VPS33B,26276,15,91557201,91557202,Intron,INS,-,T,,3,33,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PCSK6,5046,15,101983706,101983708,Intron,DEL,AAG,-,,3,9,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SRL,6345,16,4256589,4256589,Intron,DEL,A,-,,1,9,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,C16orf62,57020,16,19638927,19638928,Intron,INS,-,T,,1,7,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,LCMT1,51451,16,25172193,25172194,Intron,INS,-,G,,4,16,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PHKG2,5261,16,30770602,30770602,3'UTR,DEL,T,-,,5,50,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FUS,2521,16,31199560,31199561,Intron,DEL,CC,-,,6,25,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CHD9,80205,16,53338277,53338278,Frame_Shift_Ins,INS,-,G,c.(6358-6363)aaaccafs,5,27,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SLC12A3,6559,16,56938120,56938120,Intron,DEL,G,-,,0,3,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CNGB1,1258,16,57973100,57973100,Intron,DEL,T,-,,6,0,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TANGO6,79613,16,68934308,68934309,Intron,INS,-,GTGC,,3,9,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF19,7567,16,71509609,71509610,Frame_Shift_Ins,INS,-,T,c.(838-843)aaagctfs,3,15,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZZEF1,23140,17,3991817,3991817,Intron,DEL,C,-,,1,1,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NLGN2,57555,17,7319993,7319994,Intron,INS,-,CT,,14,1,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ALOX12B,242,17,7976761,7976762,Intron,INS,-,C,,5,24,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,GAS7,8522,17,9822720,9822720,Intron,DEL,A,-,,1,3,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MYOCD,93649,17,12664036,12664037,Intron,DEL,TG,-,,18,46,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ATPAF2,91647,17,17927796,17927797,Intron,INS,-,T,,6,12,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,POLDIP2,26073,17,26680390,26680390,Intron,DEL,G,-,,5,51,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,KIAA0100,9703,17,26955307,26955308,Frame_Shift_Ins,INS,-,A,c.(4567-4572)ggacaafs,3,21,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NF1,4763,17,29533194,29533195,Intron,INS,-,T,,4,16,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ACACA,31,17,35446130,35446132,Intron,DEL,TCA,-,,3,6,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ACLY,47,17,40060930,40060930,Intron,DEL,G,-,,4,29,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,TMEM104,54868,17,72791401,72791401,Intron,DEL,A,-,,2,0,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ENDOV,284131,17,78389020,78389021,In_Frame_Ins,INS,-,GCCGGA,c.(25-30)ccgccg>ccGCCGGAgccg,30,506,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MYOM1,8736,18,3149053,3149055,Intron,DEL,TTA,-,,7,12,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ATP9B,374868,18,77090170,77090170,Intron,DEL,C,-,,4,5,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SBNO2,22904,19,1123793,1123795,Intron,DEL,AGG,-,,1,10,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,OR7D2,162998,19,9296856,9296857,Frame_Shift_Ins,INS,-,C,c.(400-402)atcfs,5,29,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CYP4F8,11283,19,15729137,15729137,RNA,DEL,G,-,,16,60,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,COMP,1311,19,18900498,18900499,Intron,INS,-,A,,10,0,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,COMP,1311,19,18901120,18901121,Intron,INS,-,G,,3,3,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RFXANK,8625,19,19308796,19308796,Intron,DEL,G,-,,5,46,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PSENEN,55851,19,36237092,36237093,Intron,INS,-,A,,0,2,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,BCAM,4059,19,45315189,45315190,Intron,DEL,CA,-,,11,4,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,EHD2,30846,19,48245325,48245328,3'UTR,DEL,TCCG,-,,5,5,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,FUT1,2523,19,49254370,49254371,Frame_Shift_Ins,INS,-,A,c.(166-171)tgcctgfs,1,43,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SSC5D,284297,19,56029967,56029968,Frame_Shift_Ins,INS,-,A,c.(4324-4326)cttfs,0,30,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZNF324,25799,19,58981845,58981846,Intron,INS,-,CC,,1,3,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,NCOA6,23054,20,33337937,33337938,Frame_Shift_Ins,INS,-,T,c.(2059-2061)cagfs,3,22,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,RP5-1121H13.4,0,20,40625988,40625988,RNA,DEL,G,-,,0,3,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ARFGEF2,10564,20,47648790,47648791,Intron,INS,-,A,,3,11,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,KRTAP10-12,386685,21,46117883,46117884,3'UTR,INS,-,C,,0,8,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,SPECC1L,23384,22,24739609,24739612,Intron,DEL,AGTA,-,,7,6,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,MYH9,4627,22,36700027,36700035,Intron,DEL,CTCCCGGGA,-,,6,288,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,CSF2RB,1439,22,37331258,37331259,Intron,INS,-,T,,3,20,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ALG12,79087,22,50301245,50301246,Intron,INS,-,C,,3,8,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,ZBED1,9189,X,2420608,2420609,5'Flank,DEL,GC,-,,10,2,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,PORCN,64840,X,48370432,48370433,Intron,INS,-,A,,5,12,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,VSIG4,11326,X,65247274,65247275,Intron,INS,-,T,,4,30,,
RP-1532_PCProject_0357_T2_v3_Exome_OnPrem,BTK,695,X,100617323,100617324,Intron,INS,-,A,,4,13,,
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,PLXNA2,5362,1,208390590,208390590,Missense_Mutation,SNP,G,C,c.(676-678)atC>atG,22,770,0,270
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,OBSCN,84033,1,228433172,228433172,Silent,SNP,G,A,c.(3538-3540)gcG>gcA,12,501,0,135
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,DISC1,27185,1,231990557,231990557,Missense_Mutation,SNP,A,G,c.(2053-2055)gAg>gGg,7,54,0,24
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,SLC9A2,6549,2,103300702,103300702,Silent,SNP,G,A,c.(1330-1332)gcG>gcA,36,410,0,254
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,COBLL1,22837,2,165557185,165557185,Missense_Mutation,SNP,T,C,c.(1537-1539)aAt>aGt,5,154,0,85
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,KIAA1715,80856,2,176805707,176805707,Intron,SNP,A,G,,5,142,1,83
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,TTN,7273,2,179605776,179605776,Missense_Mutation,SNP,C,A,c.(11233-11235)Gtt>Ttt,6,167,0,125
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,COL6A3,1293,2,238280726,238280726,Missense_Mutation,SNP,C,T,c.(3934-3936)Gtg>Atg,8,623,0,256
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,HDLBP,3069,2,242170212,242170212,Missense_Mutation,SNP,G,A,c.(3436-3438)Cgc>Tgc,7,293,0,85
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,NUP210,23225,3,13381529,13381529,Missense_Mutation,SNP,G,A,c.(3295-3297)aCc>aTc,5,245,0,69
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,VPRBP,9730,3,51449849,51449849,Missense_Mutation,SNP,T,G,c.(2848-2850)gAt>gCt,6,316,0,125
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,GPR62,118442,3,51989789,51989789,Missense_Mutation,SNP,C,T,c.(121-123)Cgc>Tgc,73,391,1,162
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ALG3,10195,3,183961733,183961733,Missense_Mutation,SNP,G,A,c.(778-780)Cgc>Tgc,5,371,0,102
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ZNF595,152687,4,86906,86906,3'UTR,SNP,A,C,,7,348,1,159
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,AMBN,258,4,71467383,71467383,Intron,SNP,C,A,,4,95,0,51
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,MMRN1,22915,4,90816707,90816707,Silent,SNP,T,C,c.(583-585)acT>acC,50,205,0,105
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,PCDH18,54510,4,138442220,138442220,Missense_Mutation,SNP,T,C,c.(3370-3372)gAg>gGg,8,17,0,11
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ITGA2,3673,5,52370271,52370271,Silent,SNP,C,T,c.(2626-2628)tgC>tgT,6,415,0,234
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,IL31RA,133396,5,55204134,55204134,Missense_Mutation,SNP,G,A,c.(1396-1398)Gtg>Atg,5,260,0,162
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ARAP3,64411,5,141051825,141051825,Missense_Mutation,SNP,C,T,c.(1429-1431)Gct>Act,12,356,0,140
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,DOCK2,1794,5,169469096,169469096,Missense_Mutation,SNP,C,T,c.(3835-3837)aCg>aTg,9,342,0,107
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,NSD1,64324,5,176721701,176721701,Silent,SNP,G,A,c.(7330-7332)caG>caA,145,996,0,397
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ITPR3,3710,6,33643547,33643547,Missense_Mutation,SNP,G,T,c.(3196-3198)Gac>Tac,65,387,0,137
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,SLC22A7,10864,6,43268892,43268892,Missense_Mutation,SNP,C,T,c.(847-849)Cgc>Tgc,10,376,0,99
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,MTO1,25821,6,74190836,74190836,Intron,SNP,C,G,,3,21,0,16
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ARID1B,57492,6,157099140,157099140,Missense_Mutation,SNP,A,C,c.(76-78)aAg>aCg,31,155,0,76
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,AGPAT4,56895,6,161582265,161582265,Intron,SNP,G,T,,36,282,0,102
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,UNCX,340260,7,1276028,1276028,Silent,SNP,C,G,c.(1009-1011)ctC>ctG,5,226,0,124
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ZNF727,442319,7,63538824,63538824,Missense_Mutation,SNP,G,A,c.(1396-1398)aGc>aAc,7,176,1,104
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,GNAI1,2770,7,79833064,79833064,Missense_Mutation,SNP,C,T,c.(505-507)cCg>cTg,4,166,0,77
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,HEPACAM2,253012,7,92837945,92837945,Silent,SNP,G,A,c.(958-960)aaC>aaT,21,108,0,85
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,RP1L1,94137,8,10479274,10479274,5'UTR,SNP,C,T,,7,205,0,141
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,HMBOX1,79618,8,28876312,28876312,Missense_Mutation,SNP,A,G,c.(733-735)Ata>Gta,4,181,0,79
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,SPIDR,23514,8,48352968,48352968,Silent,SNP,T,C,c.(961-963)Ttg>Ctg,115,420,1,169
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,TG,7038,8,133883727,133883727,Nonsense_Mutation,SNP,C,T,c.(409-411)Cag>Tag,9,536,0,140
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,LHX6,26468,9,124972004,124972004,Intron,SNP,C,T,,19,127,0,55
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ZNF485,220992,10,44112683,44112683,Missense_Mutation,SNP,G,A,c.(1192-1194)Gtt>Att,4,93,0,51
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,WAPAL,23063,10,88213548,88213548,Missense_Mutation,SNP,G,A,c.(2698-2700)Cgt>Tgt,5,96,0,48
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,FAM160B1,57700,10,116593130,116593130,Nonsense_Mutation,SNP,T,A,c.(262-264)tTg>tAg,39,171,0,105
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,TCERG1L,256536,10,133106529,133106529,Silent,SNP,C,T,c.(613-615)ccG>ccA,11,403,0,135
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,OR56A1,120796,11,6048523,6048523,Missense_Mutation,SNP,G,A,c.(412-414)Cgg>Tgg,6,319,0,148
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,CD44,960,11,35201816,35201816,Intron,SNP,T,G,,23,114,0,70
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,OR5L1,219437,11,55579693,55579693,Missense_Mutation,SNP,T,C,c.(751-753)Ttc>Ctc,8,176,0,122
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,OR5B2,390190,11,58189994,58189994,Silent,SNP,G,A,c.(739-741)tcC>tcT,6,375,0,205
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,SLC22A9,114571,11,63137772,63137772,Missense_Mutation,SNP,A,C,c.(244-246)Aac>Cac,5,136,0,90
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ORAOV1,220064,11,69488038,69488038,Silent,SNP,A,C,c.(100-102)ggT>ggG,6,236,0,155
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,INPPL1,3636,11,71949311,71949311,Missense_Mutation,SNP,A,C,c.(3691-3693)Atc>Ctc,29,160,0,60
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,INPPL1,3636,11,71949312,71949312,Missense_Mutation,SNP,T,A,c.(3691-3693)aTc>aAc,28,157,0,60
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,PDE2A,5138,11,72291629,72291629,Missense_Mutation,SNP,C,T,c.(2173-2175)Gtc>Atc,8,412,0,129
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,KLHL35,283212,11,75141019,75141019,Missense_Mutation,SNP,G,A,c.(655-657)gCg>gTg,5,333,0,190
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,RDX,5962,11,110143764,110143764,Intron,SNP,G,C,,5,231,0,90
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,DSCAML1,57453,11,117389277,117389277,Missense_Mutation,SNP,C,T,c.(1594-1596)Gtc>Atc,72,343,0,140
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,SCN4B,6330,11,118006720,118006720,3'UTR,SNP,A,C,,11,76,0,32
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,FLI1,2313,11,128634547,128634547,Intron,SNP,C,T,,104,643,0,193
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ST14,6768,11,130078310,130078310,Missense_Mutation,SNP,C,T,c.(1999-2001)tCa>tTa,7,313,0,121
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,KCNA1,3736,12,5021284,5021284,Missense_Mutation,SNP,C,T,c.(739-741)aCg>aTg,11,861,0,288
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,NANOGNB,360030,12,7926428,7926428,Missense_Mutation,SNP,G,A,c.(547-549)cGa>cAa,4,96,0,65
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,LRRK2,120892,12,40671925,40671925,Missense_Mutation,SNP,A,T,c.(2101-2103)aaA>aaT,10,175,0,141
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ASIC1,41,12,50475104,50475104,Missense_Mutation,SNP,C,T,c.(1438-1440)gCg>gTg,45,285,0,118
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,GPD1,2819,12,50499639,50499639,Intron,SNP,G,C,,50,338,0,109
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,TCTN1,79600,12,111072215,111072215,Intron,SNP,T,C,,5,142,0,85
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,NBEA,26960,13,36223804,36223804,Missense_Mutation,SNP,C,A,c.(7720-7722)Cag>Aag,4,60,0,58
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,CLMN,79789,14,95669294,95669294,Silent,SNP,G,A,c.(2392-2394)Ctg>Ttg,10,112,0,55
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,UBR1,197131,15,43384177,43384177,Intron,SNP,G,A,,5,197,0,89
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,UNC13C,440279,15,54592538,54592538,Missense_Mutation,SNP,G,A,c.(4234-4236)cGt>cAt,4,125,0,75
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,SLC24A1,9187,15,65946279,65946279,Missense_Mutation,SNP,T,G,c.(3160-3162)ttT>ttG,6,366,0,180
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,SNRNP25,79622,16,104044,104044,Missense_Mutation,SNP,G,A,c.(55-57)Gat>Aat,149,616,0,284
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,UBN1,29855,16,4920883,4920883,Missense_Mutation,SNP,G,A,c.(1468-1470)cGg>cAg,5,194,0,67
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ABCC6,368,16,16244553,16244553,Missense_Mutation,SNP,T,C,c.(4285-4287)Act>Gct,17,346,0,121
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ADAMTS18,170692,16,77327096,77327096,Silent,SNP,G,A,c.(3064-3066)gcC>gcT,5,217,0,68
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,DNAAF1,123872,16,84189241,84189241,Missense_Mutation,SNP,G,A,c.(628-630)Gtg>Atg,6,482,1,270
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ZFP3,124961,17,4995056,4995056,Missense_Mutation,SNP,G,A,c.(256-258)cGg>cAg,4,145,0,82
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,TP53,7157,17,7577529,7577529,Missense_Mutation,SNP,A,T,c.(751-753)aTc>aAc,86,413,1,197
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,CNTROB,116840,17,7851471,7851471,Intron,SNP,C,T,,5,132,0,78
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,GALR2,8811,17,74072988,74072988,Missense_Mutation,SNP,C,T,c.(640-642)Ctc>Ttc,38,129,0,101
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,PDE6G,5148,17,79614917,79614917,IGR,SNP,C,T,,11,309,0,116
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,LAMA1,284217,18,6950871,6950871,Silent,SNP,G,A,c.(8305-8307)caC>caT,6,483,0,188
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,SKOR2,652991,18,44774975,44774975,Missense_Mutation,SNP,G,C,c.(580-582)Ccc>Gcc,8,692,0,276
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,HNRNPM,4670,19,8550961,8550961,Missense_Mutation,SNP,G,A,c.(1648-1650)cGc>cAc,10,1278,0,559
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,NCAN,1463,19,19338411,19338411,Missense_Mutation,SNP,G,T,c.(1981-1983)gGt>gTt,8,220,0,74
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ZNF737,100129842,19,20728086,20728086,Missense_Mutation,SNP,C,G,c.(922-924)aGc>aCc,8,346,0,216
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ZNF257,113835,19,22271654,22271654,Missense_Mutation,SNP,A,G,c.(1102-1104)Aaa>Gaa,5,206,1,121
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ZNF257,113835,19,22271857,22271857,Silent,SNP,G,A,c.(1303-1305)gaG>gaA,7,281,1,137
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,CADM4,199731,19,44129388,44129388,Missense_Mutation,SNP,C,T,c.(769-771)cGc>cAc,5,229,0,75
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,RALGAPA2,57186,20,20621451,20621451,Silent,SNP,C,T,c.(442-444)caG>caA,6,211,0,98
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ACSS2,55902,20,33514955,33514955,Missense_Mutation,SNP,A,G,c.(2044-2046)Act>Gct,58,294,0,103
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,PHACTR3,116154,20,58381107,58381107,Missense_Mutation,SNP,C,T,c.(1186-1188)Cgg>Tgg,33,152,0,54
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,APP,351,21,27318267,27318267,Intron,SNP,A,G,,6,117,0,97
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,APOL6,80830,22,36055415,36055415,Silent,SNP,G,T,c.(802-804)gcG>gcT,79,353,0,146
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,NAP1L6,645996,X,72347540,72347540,Missense_Mutation,SNP,C,T,c.(181-183)tGt>tAt,14,205,1,110
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,RNF128,79589,X,105937296,105937296,Missense_Mutation,SNP,A,C,c.(64-66)Att>Ctt,31,30,0,25
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,SLC25A5,292,X,118602445,118602445,5'UTR,SNP,T,G,,8,465,0,192
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,TRIP12,9320,2,230723998,230723998,Frame_Shift_Del,DEL,T,-,c.(391-393)agcfs,42,143,,
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,ZNFX1,57169,20,47864224,47864226,In_Frame_Del,DEL,CTT,-,c.(5335-5337)aagdel,28,167,,
RP-1532_PCProject_0364_T2_v4_Exome_OnPrem,DGCR2,9993,22,19052420,19052420,Frame_Shift_Del,DEL,A,-,c.(487-489)tttfs,76,511,,
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ACOT7,11332,1,6341210,6341210,Silent,SNP,G,A,c.(994-996)taC>taT,6,264,0,245
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,NASP,4678,1,46054350,46054350,Intron,SNP,A,G,,3,15,0,15
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ABCA4,24,1,94578556,94578556,Missense_Mutation,SNP,C,T,c.(133-135)Gcc>Acc,9,156,0,131
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,TARS2,80222,1,150464965,150464965,Splice_Site,SNP,G,A,c.(772-774)tcG>tcA,5,127,0,101
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,USF1,7391,1,161012652,161012652,Missense_Mutation,SNP,G,A,c.(28-30)aCg>aTg,6,284,0,103
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,F5,2153,1,169510240,169510240,Missense_Mutation,SNP,T,C,c.(4087-4089)cAt>cGt,5,253,1,177
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,HMCN1,83872,1,186120437,186120437,Missense_Mutation,SNP,C,A,c.(14713-14715)aCt>aAt,5,175,0,100
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,XDH,7498,2,31595165,31595165,Silent,SNP,G,A,c.(1783-1785)gaC>gaT,8,392,0,214
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,GEMIN6,79833,2,39006489,39006489,Intron,SNP,T,C,,4,37,0,22
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ADRA2B,151,2,96781613,96781613,Silent,SNP,G,A,c.(274-276)gaC>gaT,6,204,0,150
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SCN9A,6335,2,167143143,167143143,Intron,SNP,C,G,,2,1,0,10
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,CASP8,841,2,202134304,202134304,Intron,SNP,G,A,,22,176,0,163
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ALPI,248,2,233321963,233321963,Missense_Mutation,SNP,G,A,c.(577-579)atG>atA,13,59,0,64
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,GIGYF2,26058,2,233620996,233620996,Missense_Mutation,SNP,G,A,c.(331-333)Gga>Aga,7,239,1,75
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,GIGYF2,26058,2,233620997,233620997,Missense_Mutation,SNP,G,A,c.(331-333)gGa>gAa,7,231,0,75
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,GIGYF2,26058,2,233621024,233621024,Missense_Mutation,SNP,G,A,c.(358-360)cGa>cAa,5,104,0,49
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,KCNJ13,3769,2,233633077,233633077,Silent,SNP,A,G,c.(907-909)Ttg>Ctg,6,221,0,145
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ATP2B2,491,3,10426971,10426971,Silent,SNP,C,T,c.(979-981)gcG>gcA,15,178,0,158
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SCN10A,6336,3,38755496,38755496,Missense_Mutation,SNP,G,A,c.(3757-3759)Cgc>Tgc,14,146,0,115
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,TMF1,7110,3,69091975,69091975,Missense_Mutation,SNP,C,T,c.(1666-1668)cGa>cAa,5,95,0,62
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SLITRK3,22865,3,164906588,164906588,Silent,SNP,G,A,c.(2029-2031)taC>taT,6,131,0,62
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,Unknown,0,3,195346505,195346505,IGR,SNP,C,T,,6,430,0,400
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SHROOM3,57619,4,77662874,77662874,Missense_Mutation,SNP,G,A,c.(3547-3549)cGg>cAg,5,299,0,209
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,PABPC4L,132430,4,135121643,135121643,Missense_Mutation,SNP,G,A,c.(532-534)Cgt>Tgt,6,228,0,123
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,DCHS2,54798,4,155156033,155156033,Silent,SNP,T,A,c.(8404-8406)ctA>ctT,5,21,0,33
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,FGA,2243,4,155507541,155507541,Missense_Mutation,SNP,T,C,c.(1039-1041)cAa>cGa,4,67,1,75
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,CBR4,84869,4,169930185,169930185,Intron,SNP,C,T,,8,562,0,134
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SLC12A7,10723,5,1085497,1085497,Missense_Mutation,SNP,G,A,c.(766-768)aCg>aTg,7,270,0,222
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,C5orf42,65250,5,37198846,37198846,Nonsense_Mutation,SNP,C,T,c.(3628-3630)tgG>tgA,5,182,0,77
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,NR2F1,7025,5,92929356,92929356,Silent,SNP,C,T,c.(1078-1080)taC>taT,8,581,0,200
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,DMXL1,1657,5,118513747,118513747,Missense_Mutation,SNP,C,T,c.(6943-6945)Ctt>Ttt,6,170,0,101
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SNCAIP,9627,5,121761086,121761086,Missense_Mutation,SNP,G,A,c.(1042-1044)Gaa>Aaa,5,204,0,114
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,PCDHA4,56144,5,140188818,140188818,Silent,SNP,G,A,c.(2044-2046)gcG>gcA,5,205,0,170
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,GM2A,2760,5,150646926,150646926,Missense_Mutation,SNP,G,A,c.(496-498)Ggg>Agg,6,385,0,231
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,MRPL2,51069,6,43023661,43023661,Missense_Mutation,SNP,C,T,c.(604-606)cGg>cAg,3,25,0,29
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,PRIM2,5558,6,57472370,57472370,3'UTR,SNP,C,T,,13,385,0,269
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SASH1,23328,6,148840899,148840899,Missense_Mutation,SNP,G,A,c.(1078-1080)cGg>cAg,5,258,0,143
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,GPR146,115330,7,1097740,1097740,Missense_Mutation,SNP,G,A,c.(589-591)Gtg>Atg,5,126,0,120
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,EVX1,2128,7,27285887,27285887,Missense_Mutation,SNP,C,T,c.(1066-1068)cCg>cTg,15,258,0,272
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,GHRHR,2692,7,31003690,31003690,Missense_Mutation,SNP,C,T,c.(7-9)Cgc>Tgc,7,287,0,159
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,NACAD,23148,7,45123817,45123817,Silent,SNP,C,T,c.(1960-1962)tcG>tcA,5,122,1,143
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,EGFR,1956,7,55241713,55241713,Missense_Mutation,SNP,G,A,c.(2161-2163)Ggt>Agt,8,199,0,126
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ZNF716,441234,7,57529048,57529048,Missense_Mutation,SNP,A,G,c.(880-882)aAa>aGa,6,197,0,131
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,PPP1R9A,55607,7,94881150,94881150,Missense_Mutation,SNP,G,A,c.(2407-2409)Gtg>Atg,8,78,0,53
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ZAN,7455,7,100349629,100349629,RNA,SNP,C,A,,6,272,0,160
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,KIAA1549,57670,7,138564314,138564314,Missense_Mutation,SNP,C,T,c.(4315-4317)Gat>Aat,5,225,0,97
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,PRKAG2,51422,7,151433073,151433073,Intron,SNP,G,A,,5,193,0,93
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,KMT2C,58508,7,151854916,151854916,Intron,SNP,C,A,,6,45,0,29
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ESYT2,57488,7,158566054,158566054,Missense_Mutation,SNP,G,A,c.(925-927)Ctt>Ttt,6,211,0,102
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,PKHD1L1,93035,8,110520022,110520022,Missense_Mutation,SNP,G,A,c.(11125-11127)Gga>Aga,5,223,0,144
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,PLEC,5339,8,144990761,144990761,Missense_Mutation,SNP,C,T,c.(13639-13641)Gag>Aag,6,204,0,171
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,MFSD3,113655,8,145738150,145738150,IGR,SNP,G,A,,5,143,0,91
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,WNK2,65268,9,96070739,96070739,Missense_Mutation,SNP,A,G,c.(6499-6501)gAc>gGc,43,270,0,180
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,AK1,203,9,130635435,130635435,Intron,SNP,G,A,,6,266,0,169
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,TOR1A,1861,9,132580869,132580869,Silent,SNP,C,T,c.(676-678)aaG>aaA,6,204,0,219
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,DDX31,64794,9,135521322,135521322,Missense_Mutation,SNP,C,T,c.(1654-1656)cGa>cAa,5,234,0,76
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,NOTCH1,4851,9,139418329,139418329,Silent,SNP,G,A,c.(241-243)ggC>ggT,5,237,0,214
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ALOX5,240,10,45878057,45878057,Missense_Mutation,SNP,G,A,c.(277-279)Ggg>Agg,7,289,1,198
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,PPP1R3C,5507,10,93389756,93389756,Silent,SNP,C,T,c.(880-882)ccG>ccA,12,76,0,82
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SORBS1,10580,10,97101395,97101395,Missense_Mutation,SNP,T,C,c.(2470-2472)Aag>Gag,8,67,0,56
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,TLL2,7093,10,98188495,98188495,Silent,SNP,C,T,c.(529-531)agG>agA,4,71,0,62
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,FGFR2,2263,10,123324058,123324058,Missense_Mutation,SNP,C,T,c.(412-414)Gat>Aat,6,259,0,188
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,RRP8,23378,11,6623134,6623134,Silent,SNP,C,T,c.(409-411)caG>caA,5,91,0,26
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,CTR9,9646,11,10800514,10800514,Silent,SNP,C,T,c.(3382-3384)gcC>gcT,5,281,0,195
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,TCP11L1,55346,11,33078163,33078163,Intron,SNP,T,C,,4,30,0,21
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,CKAP5,9793,11,46818464,46818464,Silent,SNP,G,A,c.(1363-1365)gtC>gtT,19,105,0,124
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,TRIM64C,646754,11,49075560,49075560,Missense_Mutation,SNP,C,A,c.(1048-1050)tgG>tgT,5,110,0,117
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,DDB1,1642,11,61091602,61091602,Missense_Mutation,SNP,G,A,c.(769-771)aCg>aTg,5,94,0,88
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SSSCA1,10534,11,65338939,65338939,Nonsense_Mutation,SNP,C,T,c.(334-336)Cga>Tga,7,356,0,95
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SIPA1,6494,11,65408753,65408753,Missense_Mutation,SNP,G,A,c.(361-363)Gtg>Atg,6,276,0,179
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,LRP5,4041,11,68115350,68115350,Missense_Mutation,SNP,G,A,c.(127-129)Gta>Ata,5,246,0,142
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,KIAA1731,85459,11,93428729,93428729,Missense_Mutation,SNP,T,G,c.(1600-1602)Tta>Gta,7,40,0,30
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ERC1,23085,12,1250912,1250912,Silent,SNP,T,C,c.(1696-1698)Ttg>Ctg,14,70,0,33
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,KCNJ8,3764,12,21919188,21919188,Silent,SNP,A,G,c.(742-744)atT>atC,4,74,0,51
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SMARCD1,6602,12,50483670,50483670,Missense_Mutation,SNP,C,T,c.(775-777)Cac>Tac,5,99,0,54
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,LRP1,4035,12,57556672,57556672,Silent,SNP,C,T,c.(2434-2436)ggC>ggT,6,177,0,69
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,KDM2B,84678,12,121881473,121881473,Intron,SNP,G,A,,5,249,0,122
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,UBC,7316,12,125396289,125396289,Silent,SNP,A,G,c.(889-891)Ttg>Ctg,6,239,0,95
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,UBC,7316,12,125396296,125396296,Silent,SNP,A,G,c.(880-882)acT>acC,15,273,1,109
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,MICU2,221154,13,22178097,22178097,Missense_Mutation,SNP,C,T,c.(190-192)aGt>aAt,6,255,0,119
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,NAA16,79612,13,41894958,41894958,Nonsense_Mutation,SNP,C,T,c.(400-402)Cga>Tga,3,17,0,18
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,RBM25,58517,14,73570030,73570030,Missense_Mutation,SNP,G,A,c.(997-999)cGt>cAt,6,356,1,162
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,EVL,51466,14,100613218,100613218,IGR,SNP,G,A,,5,84,0,55
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SNHG14,0,15,25472299,25472299,RNA,SNP,G,A,,23,198,0,136
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ZNF106,64397,15,42713258,42713258,Splice_Site,SNP,C,T,c.e17+1,5,94,0,63
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,TLN2,83660,15,63088389,63088389,Missense_Mutation,SNP,G,A,c.(5947-5949)Gcc>Acc,5,292,0,146
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,AC019294.1,0,15,76030395,76030395,Missense_Mutation,SNP,C,G,c.(19-21)Cgg>Ggg,4,26,0,22
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,AKAP13,11214,15,86225443,86225443,Splice_Site,SNP,G,A,c.(5155-5157)aGt>aAt,5,174,0,90
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,RGS11,8786,16,324720,324720,Intron,SNP,C,T,,4,84,0,61
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,WDR24,84219,16,735432,735432,Missense_Mutation,SNP,G,A,c.(2233-2235)tCg>tTg,6,180,0,80
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SLC9A3R2,9351,16,2086790,2086790,Missense_Mutation,SNP,G,A,c.(655-657)cGg>cAg,7,280,0,125
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ABCA3,21,16,2326316,2326316,3'UTR,SNP,C,T,,5,89,0,57
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,GRIN2A,2903,16,9857858,9857858,Silent,SNP,G,A,c.(3541-3543)aaC>aaT,5,117,0,109
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,GGA2,23062,16,23494323,23494323,Silent,SNP,G,A,c.(799-801)gtC>gtT,15,138,0,77
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SIAH1,6477,16,48396307,48396307,Silent,SNP,G,A,c.(31-33)acC>acT,6,189,0,108
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,MYO1C,4641,17,1371295,1371295,Silent,SNP,G,A,c.(2776-2778)taC>taT,10,495,0,330
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,TRPV1,7442,17,3491521,3491521,Silent,SNP,C,T,c.(1183-1185)tcG>tcA,5,85,0,76
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,KRTAP1-3,81850,17,39191005,39191005,Silent,SNP,G,A,c.(67-69)agC>agT,12,285,1,213
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,RND2,8153,17,41180564,41180564,Missense_Mutation,SNP,G,A,c.(550-552)cGt>cAt,6,274,0,192
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,KAT7,11143,17,47882799,47882799,Missense_Mutation,SNP,G,A,c.(655-657)Gaa>Aaa,5,102,0,58
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ABCC3,8714,17,48750485,48750485,Missense_Mutation,SNP,G,A,c.(2395-2397)Gtg>Atg,5,148,0,72
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ABCA8,10351,17,66903974,66903974,Missense_Mutation,SNP,C,A,c.(2065-2067)Gtt>Ttt,7,99,0,27
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,CCDC57,284001,17,80153218,80153218,Missense_Mutation,SNP,G,A,c.(538-540)tCg>tTg,6,173,0,129
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,LOXHD1,125336,18,44146330,44146330,Missense_Mutation,SNP,C,T,c.(1492-1494)cGt>cAt,5,220,0,127
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ATP8B3,148229,19,1805248,1805248,Intron,SNP,C,A,,3,5,0,32
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,INSR,3643,19,7267352,7267352,Intron,SNP,G,A,,5,289,0,124
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,AKAP8,10270,19,15472944,15472944,Missense_Mutation,SNP,C,T,c.(1279-1281)Gac>Aac,17,72,0,59
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SSBP4,170463,19,18542593,18542593,Intron,SNP,C,T,,4,22,0,10
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SSBP4,170463,19,18542624,18542624,Missense_Mutation,SNP,T,C,c.(517-519)Tcc>Ccc,4,36,0,16
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,SSBP4,170463,19,18542625,18542625,Missense_Mutation,SNP,C,A,c.(517-519)tCc>tAc,4,37,0,16
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,LPAR2,9170,19,19735140,19735140,Silent,SNP,G,C,c.(979-981)tcC>tcG,4,87,0,57
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ZNF253,56242,19,20002821,20002821,Silent,SNP,C,T,c.(763-765)ccC>ccT,6,367,0,228
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ZNF93,81931,19,20044658,20044658,Silent,SNP,A,G,c.(892-894)tcA>tcG,5,273,0,109
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ZNF93,81931,19,20045033,20045033,Silent,SNP,A,G,c.(1267-1269)aaA>aaG,4,233,0,124
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ZNF429,353088,19,21720631,21720631,Silent,SNP,C,T,c.(1774-1776)ccC>ccT,5,191,0,112
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ZNF676,163223,19,22363786,22363786,Missense_Mutation,SNP,T,C,c.(733-735)Ata>Gta,6,431,1,217
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ZNF729,100287226,19,22498774,22498774,Missense_Mutation,SNP,A,G,c.(2554-2556)tAc>tGc,5,251,0,211
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ZNF726,730087,19,24116610,24116610,Silent,SNP,T,C,c.(1690-1692)ccT>ccC,5,149,0,114
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ZNF850,342892,19,37239677,37239677,Silent,SNP,T,C,c.(2263-2265)aaA>aaG,4,132,0,81
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,CIC,23152,19,42793472,42793472,Missense_Mutation,SNP,G,A,c.(1273-1275)cGt>cAt,7,461,0,236
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,ZNF628,89887,19,55993512,55993512,Missense_Mutation,SNP,G,A,c.(952-954)Ggg>Agg,6,211,0,207
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,EPN1,29924,19,56196836,56196836,Silent,SNP,C,T,c.(301-303)taC>taT,7,453,0,265
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,NLRP13,126204,19,56424173,56424173,Missense_Mutation,SNP,T,C,c.(1009-1011)cAg>cGg,6,109,0,125
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,HM13,81502,20,30149492,30149492,Missense_Mutation,SNP,G,A,c.(901-903)Ggc>Agc,7,352,0,148
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,PCNT,5116,21,47786951,47786951,Missense_Mutation,SNP,G,A,c.(3061-3063)cGg>cAg,5,164,0,151
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,C22orf42,150297,22,32555167,32555167,Silent,SNP,G,A,c.(34-36)agC>agT,5,167,0,127
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,PDE4DIP,9659,1,144874999,144875002,Intron,DEL,GGAC,-,,0,5,,
RP-1532_PCProject_0381_T2_v4_Exome_OnPrem,CDC123,8872,10,12277184,12277185,Intron,INS,-,A,,8,14,,
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AGRN,375790,1,977390,977390,Missense_Mutation,SNP,G,A,c.(1231-1233)cGt>cAt,9,781,0,125
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AGRN,375790,1,979523,979523,Silent,SNP,G,A,c.(2032-2034)gaG>gaA,11,1181,0,208
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,B3GALT6,126792,1,1168595,1168595,Missense_Mutation,SNP,G,A,c.(937-939)Gac>Aac,10,357,0,46
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GLTPD1,0,1,1262970,1262970,Missense_Mutation,SNP,G,A,c.(472-474)Gtc>Atc,12,1687,0,297
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TAS1R3,83756,1,1267131,1267131,Missense_Mutation,SNP,C,T,c.(304-306)aCg>aTg,10,964,0,187
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,VWA1,64856,1,1375056,1375056,Silent,SNP,G,A,c.(1225-1227)tcG>tcA,7,520,0,69
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ATAD3B,83858,1,1418463,1418463,Intron,SNP,C,A,,8,348,0,53
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C1orf86,199990,1,2124319,2124319,Intron,SNP,G,A,,11,346,0,66
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PANK4,55229,1,2444352,2444352,Missense_Mutation,SNP,C,T,c.(1702-1704)Gac>Aac,10,742,0,122
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PANK4,55229,1,2450714,2450714,Silent,SNP,G,A,c.(901-903)aaC>aaT,8,380,0,51
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DFFB,1677,1,3777047,3777047,Intron,SNP,T,C,,7,167,0,44
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DFFB,1677,1,3777052,3777052,Intron,SNP,T,C,,8,151,0,43
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ACOT7,11332,1,6341210,6341210,Silent,SNP,G,A,c.(994-996)taC>taT,10,901,0,199
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CAMTA1,23261,1,7723909,7723909,Silent,SNP,C,T,c.(1300-1302)gcC>gcT,7,405,0,125
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RBP7,116362,1,10067027,10067027,Intron,SNP,T,C,,12,187,0,30
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZBTB17,7709,1,16271276,16271276,Missense_Mutation,SNP,G,A,c.(985-987)aCg>aTg,7,262,0,69
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZBTB17,7709,1,16271627,16271627,Silent,SNP,G,A,c.(730-732)ggC>ggT,8,559,0,135
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,HSPG2,3339,1,22202145,22202145,Silent,SNP,G,A,c.(3277-3279)taC>taT,12,1013,0,233
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,EPHA8,2046,1,22924274,22924274,Missense_Mutation,SNP,G,A,c.(2035-2037)cGg>cAg,8,422,0,89
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ASAP3,55616,1,23767920,23767920,Missense_Mutation,SNP,C,T,c.(793-795)cGg>cAg,6,331,0,78
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CNKSR1,10256,1,26509905,26509905,Silent,SNP,G,A,c.(751-753)gtG>gtA,8,607,0,228
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CNKSR1,10256,1,26515961,26515961,Silent,SNP,C,T,c.(2083-2085)tcC>tcT,6,177,1,126
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ARID1A,8289,1,27023543,27023543,Missense_Mutation,SNP,C,T,c.(649-651)Ccc>Tcc,4,59,0,20
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SNRNP40,9410,1,31733926,31733926,Intron,SNP,A,G,,7,87,0,27
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,HPCA,3208,1,33354703,33354703,Silent,SNP,C,T,c.(202-204)gtC>gtT,7,219,0,70
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TEKT2,27285,1,36552567,36552567,Missense_Mutation,SNP,G,A,c.(667-669)cGg>cAg,11,569,0,257
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MAP7D1,55700,1,36638217,36638217,Missense_Mutation,SNP,G,A,c.(613-615)Gag>Aag,7,190,0,34
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CCDC17,149483,1,46089025,46089025,Silent,SNP,G,A,c.(355-357)tcC>tcT,11,1024,0,194
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TSPAN1,10103,1,46642029,46642029,Intron,SNP,G,A,,8,498,0,188
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LRP8,7804,1,53742677,53742677,Silent,SNP,G,A,c.(568-570)gaC>gaT,13,1329,0,203
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ACOT11,26027,1,55050418,55050418,Missense_Mutation,SNP,C,T,c.(124-126)Cgg>Tgg,8,754,0,131
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TTC22,55001,1,55247155,55247155,Missense_Mutation,SNP,C,T,c.(1471-1473)Ggg>Agg,7,487,0,113
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ABCA4,24,1,94511317,94511317,Intron,SNP,C,T,,5,86,0,73
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ABCA4,24,1,94514424,94514424,Splice_Site,SNP,C,T,c.(2743-2745)Gac>Aac,6,283,0,123
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CYB561D1,284613,1,110037192,110037192,Intron,SNP,G,C,,4,51,0,21
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CHIA,27159,1,111854964,111854964,Missense_Mutation,SNP,G,A,c.(208-210)Gaa>Aaa,6,187,0,90
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,KCND3,3752,1,112525287,112525287,Missense_Mutation,SNP,G,A,c.(61-63)cCg>cTg,9,795,0,109
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PDE4DIP,9659,1,145074974,145074974,Missense_Mutation,SNP,C,T,c.(319-321)cGa>cAa,8,319,0,165
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FMO5,2330,1,146696623,146696623,5'UTR,SNP,G,C,,15,43,0,57
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GJA8,2703,1,147381207,147381207,Silent,SNP,C,T,c.(1123-1125)ccC>ccT,5,76,0,71
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,VPS45,11311,1,150115083,150115083,Intron,SNP,A,G,,6,142,0,22
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,HRNR,388697,1,152193371,152193371,Missense_Mutation,SNP,C,G,c.(733-735)aGt>aCt,9,425,0,208
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LCE1A,353131,1,152799941,152799941,5'Flank,SNP,C,T,,41,95,0,39
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC39A1,27173,1,153932871,153932871,Silent,SNP,G,A,c.(676-678)tcC>tcT,8,598,1,99
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TPM3,7170,1,154166191,154166191,5'Flank,SNP,C,T,,26,46,0,57
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,IL6R,3570,1,154410015,154410015,Intron,SNP,A,G,,9,118,0,12
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CHRNB2,1141,1,154544372,154544372,Missense_Mutation,SNP,G,A,c.(1072-1074)cGt>cAt,12,1202,0,155
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TRIM46,80128,1,155152976,155152976,Intron,SNP,T,C,,4,65,0,8
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MEX3A,92312,1,156047476,156047476,Intron,SNP,G,A,,4,15,0,17
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CCT3,7203,1,156306924,156306924,Intron,SNP,G,A,,7,135,0,27
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RHBG,57127,1,156344454,156344454,Intron,SNP,C,T,,7,36,0,18
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GPATCH4,54865,1,156564919,156564919,3'UTR,SNP,C,T,,6,282,0,85
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,HAPLN2,60484,1,156594964,156594964,Missense_Mutation,SNP,G,A,c.(811-813)Gtg>Atg,12,1178,0,238
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,OR10K1,391109,1,158435522,158435522,Silent,SNP,T,C,c.(169-171)acT>acC,16,99,0,99
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PRRC2C,23215,1,171482181,171482181,Missense_Mutation,SNP,C,T,c.(154-156)Cgg>Tgg,6,92,0,42
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RFWD2,64326,1,176069424,176069424,Intron,SNP,G,C,,7,112,0,11
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RGS16,6004,1,182569515,182569515,Missense_Mutation,SNP,G,A,c.(520-522)tCg>tTg,12,1053,0,204
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NPL,80896,1,182778412,182778412,Intron,SNP,A,G,,4,44,0,11
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NAV1,89796,1,201763301,201763301,Intron,SNP,T,C,,7,423,1,83
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PPP1R15B,84919,1,204380431,204380431,Missense_Mutation,SNP,G,A,c.(109-111)Ccg>Tcg,8,536,0,157
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C4BPB,725,1,207268769,207268769,Intron,SNP,A,G,,6,79,0,35
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SYT14,255928,1,210139269,210139269,Intron,SNP,A,G,,8,227,0,43
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SDE2,163859,1,226173109,226173109,Missense_Mutation,SNP,C,T,c.(1249-1251)gGc>gAc,7,400,0,192
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RYR2,6262,1,237789112,237789112,Intron,SNP,G,A,,5,29,0,22
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CHRM3,1131,1,240070911,240070911,Missense_Mutation,SNP,G,A,c.(160-162)Ggt>Agt,5,237,0,89
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,OR2T4,127074,1,248525438,248525438,Missense_Mutation,SNP,G,A,c.(556-558)Gtg>Atg,7,185,0,134
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NOL10,79954,2,10729400,10729400,Missense_Mutation,SNP,G,T,c.(1612-1614)cCg>cAg,4,46,0,44
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GDF7,151449,2,20870815,20870815,Missense_Mutation,SNP,G,A,c.(982-984)cGg>cAg,6,353,0,88
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,KIF3C,3797,2,26203964,26203964,Missense_Mutation,SNP,C,T,c.(823-825)Ggt>Agt,7,347,1,121
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GCKR,2646,2,27746169,27746169,Missense_Mutation,SNP,C,T,c.(1741-1743)Cgg>Tgg,9,456,0,174
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ATL2,64225,2,38581226,38581226,Intron,SNP,T,C,,5,29,0,19
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GEMIN6,79833,2,39006489,39006489,Intron,SNP,T,C,,9,103,0,18
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,THADA,63892,2,43393890,43393890,Silent,SNP,A,G,c.(3202-3204)tgT>tgC,5,92,0,15
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DYNC2LI1,51626,2,44002865,44002865,Intron,SNP,T,C,,5,132,0,15
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TTC7A,57217,2,47278997,47278997,Silent,SNP,G,A,c.(2128-2130)ctG>ctA,7,299,0,55
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,EML6,400954,2,55191723,55191723,Nonsense_Mutation,SNP,C,T,c.(5347-5349)Cga>Tga,6,70,0,36
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FAM161A,84140,2,62052972,62052972,3'UTR,SNP,T,C,,3,13,0,10
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,COMMD1,150684,2,62196218,62196218,Intron,SNP,T,C,,6,93,0,23
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CCT7,10574,2,73479897,73479897,Missense_Mutation,SNP,G,A,c.(1540-1542)Gtg>Atg,8,520,0,89
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,INO80B,83444,2,74684571,74684571,Silent,SNP,G,A,c.(649-651)gaG>gaA,10,650,0,111
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,REG3G,130120,2,79253960,79253960,Intron,SNP,G,A,,5,36,0,35
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DNAH6,1768,2,84867682,84867682,Missense_Mutation,SNP,G,T,c.(4948-4950)aaG>aaT,18,37,0,26
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DNAH6,1768,2,84954803,84954803,Missense_Mutation,SNP,C,T,c.(9982-9984)aCc>aTc,4,25,0,30
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,THNSL2,55258,2,88485581,88485581,Missense_Mutation,SNP,G,A,c.(1393-1395)cGg>cAg,7,442,0,125
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NEURL3,93082,2,97164069,97164069,RNA,SNP,G,A,,8,567,0,130
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GLI2,2736,2,121746267,121746267,Missense_Mutation,SNP,C,T,c.(2776-2778)aCg>aTg,6,341,0,67
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GLI2,2736,2,121746481,121746481,Silent,SNP,G,A,c.(2989-2991)ccG>ccA,9,1018,0,206
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TANC1,85461,2,160031643,160031643,Silent,SNP,G,A,c.(1681-1683)ccG>ccA,7,397,0,120
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,UBR3,130507,2,170815001,170815001,Missense_Mutation,SNP,G,A,c.(3598-3600)cGa>cAa,6,124,0,48
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NFE2L2,4780,2,178092628,178092628,IGR,SNP,T,C,,5,135,0,27
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TTN,7273,2,179422887,179422887,Missense_Mutation,SNP,T,C,c.(82270-82272)gAc>gGc,6,54,0,40
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MFSD6,54842,2,191334581,191334581,Splice_Site,SNP,G,A,c.(1630-1632)Gga>Aga,5,104,0,22
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GTF3C3,9330,2,197664260,197664260,Missense_Mutation,SNP,C,T,c.(76-78)Gaa>Aaa,6,144,0,100
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SUMO1,7341,2,203096264,203096264,Intron,SNP,A,G,,5,21,0,17
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,WNT10A,80326,2,219745754,219745754,Nonsense_Mutation,SNP,C,T,c.(37-39)Cga>Tga,8,469,0,113
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FAM134A,79137,2,220046190,220046190,Intron,SNP,G,A,,6,205,0,79
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ANKZF1,55139,2,220099542,220099542,Intron,SNP,C,T,,4,1,0,10
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TMEM198,130612,2,220413949,220413949,Missense_Mutation,SNP,G,A,c.(817-819)cGg>cAg,9,859,0,163
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AP1S3,130340,2,224617548,224617548,Missense_Mutation,SNP,A,G,c.(487-489)cTa>cCa,6,118,0,24
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ARMC9,80210,2,232220550,232220550,3'UTR,SNP,G,A,,7,469,0,88
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NPPC,4880,2,232790203,232790203,Missense_Mutation,SNP,C,T,c.(313-315)Ggc>Agc,7,290,0,121
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NDUFA10,4705,2,240929513,240929513,Missense_Mutation,SNP,C,T,c.(976-978)cGt>cAt,6,158,0,110
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,KIF1A,547,2,241657505,241657505,Nonsense_Mutation,SNP,C,T,c.(4990-4992)tgG>tgA,7,355,0,121
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AC104809.3,0,2,241903126,241903126,Missense_Mutation,SNP,G,A,c.(2923-2925)Gta>Ata,15,740,0,110
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ATG4B,23192,2,242610133,242610133,Intron,SNP,C,T,,7,177,0,64
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CRELD1,78987,3,9976572,9976572,Silent,SNP,G,A,c.(226-228)gaG>gaA,9,143,0,58
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FANCD2OS,115795,3,10144728,10144728,Intron,SNP,T,C,,5,153,0,41
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ATP2B2,491,3,10392216,10392216,Missense_Mutation,SNP,G,A,c.(2182-2184)Cgc>Tgc,6,317,0,105
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TMEM40,55287,3,12785493,12785493,Intron,SNP,G,A,,5,139,0,58
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GRIP2,80852,3,14583492,14583492,RNA,SNP,G,A,,8,514,0,158
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MRPS25,64432,3,15091392,15091392,3'UTR,SNP,A,G,,7,203,0,44
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NKIRAS1,28512,3,23963175,23963175,Intron,SNP,T,C,,4,60,0,20
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SETD2,29072,3,47098476,47098476,Silent,SNP,C,T,c.(6796-6798)caG>caA,4,62,0,62
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SETD2,29072,3,47147188,47147188,Intron,SNP,A,T,,10,121,0,36
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SETD2,29072,3,47147209,47147209,Intron,SNP,G,A,,11,77,0,31
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SETD2,29072,3,47147221,47147221,Intron,SNP,C,T,,5,60,0,26
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SETD2,29072,3,47147249,47147249,Intron,SNP,A,C,,4,33,0,14
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RHOA,387,3,49398387,49398387,Intron,SNP,C,T,,9,136,0,16
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RHOA,387,3,49398399,49398399,Intron,SNP,A,G,,5,129,0,14
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,IP6K1,9807,3,49765670,49765670,Missense_Mutation,SNP,G,A,c.(658-660)Ccc>Tcc,9,430,0,79
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,VPRBP,9730,3,51457624,51457624,Missense_Mutation,SNP,G,A,c.(1453-1455)Cgg>Tgg,11,506,0,109
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ALAS1,211,3,52245490,52245490,Missense_Mutation,SNP,G,A,c.(1522-1524)Gtc>Atc,16,869,0,130
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PHF7,51533,3,52443559,52443559,5'Flank,SNP,C,T,,10,486,0,162
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TNNC1,7134,3,52488008,52488008,Splice_Site,SNP,C,T,c.(22-24)gcG>gcA,8,754,0,137
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FLNB,2317,3,58117736,58117736,Intron,SNP,T,C,,8,89,0,36
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MAGI1,9223,3,65342146,65342146,Silent,SNP,C,T,c.(4294-4296)gcG>gcA,7,270,0,49
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PPP4R2,151987,3,73064991,73064991,Intron,SNP,A,G,,5,75,0,18
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ARL13B,200894,3,93715481,93715481,Intron,SNP,A,C,,9,208,0,32
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MCM2,4171,3,127337905,127337905,Silent,SNP,C,T,c.(2047-2049)caC>caT,7,96,0,36
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PODXL2,50512,3,127379383,127379383,Missense_Mutation,SNP,A,G,c.(511-513)gAg>gGg,5,129,0,65
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RAB7A,7879,3,128526490,128526490,Silent,SNP,G,A,c.(502-504)acG>acA,8,458,0,147
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,IFT122,55764,3,129178181,129178181,Intron,SNP,G,A,,6,165,0,23
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,EPHB1,2047,3,134884868,134884868,Silent,SNP,C,T,c.(1642-1644)gcC>gcT,37,316,0,59
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ARMC8,25852,3,137947806,137947806,Missense_Mutation,SNP,G,A,c.(481-483)cGc>cAc,5,124,0,48
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PAQR9,344838,3,142681817,142681817,Missense_Mutation,SNP,G,A,c.(361-363)cCg>cTg,9,900,0,150
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CPA3,1359,3,148586735,148586735,Missense_Mutation,SNP,G,A,c.(178-180)Gta>Ata,6,70,0,23
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MED12L,116931,3,151073743,151073743,Silent,SNP,C,T,c.(2470-2472)ctC>ctT,5,99,0,44
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AC104472.1,0,3,155461276,155461276,Missense_Mutation,SNP,G,A,c.(115-117)gCg>gTg,8,115,0,21
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AC104472.1,0,3,155461277,155461277,Missense_Mutation,SNP,C,T,c.(115-117)Gcg>Acg,6,117,0,22
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GFM1,85476,3,158376837,158376837,Missense_Mutation,SNP,G,A,c.(1210-1212)Gac>Aac,8,133,0,65
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLITRK3,22865,3,164906168,164906168,Silent,SNP,C,T,c.(2449-2451)gaG>gaA,29,180,0,93
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AP2M1,1173,3,183899728,183899728,Missense_Mutation,SNP,C,T,c.(856-858)Ccc>Tcc,6,168,0,56
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,HRG,3273,3,186395041,186395041,Missense_Mutation,SNP,C,T,c.(946-948)cCt>cTt,5,156,0,145
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CPN2,1370,3,194062503,194062503,Missense_Mutation,SNP,G,A,c.(928-930)gCc>gTc,5,153,0,59
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ATP13A3,79572,3,194219541,194219541,5'Flank,SNP,C,T,,6,234,0,30
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MUC4,4585,3,195512274,195512274,Silent,SNP,T,A,c.(6175-6177)acA>acT,7,291,1,166
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PIGG,54872,4,515735,515735,Intron,SNP,G,A,,10,460,0,105
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PIGG,54872,4,515739,515739,Intron,SNP,G,A,,7,412,0,95
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MAEA,10296,4,1305772,1305772,Silent,SNP,C,T,c.(73-75)ccC>ccT,6,127,1,46
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FAM193A,8603,4,2709960,2709960,Missense_Mutation,SNP,G,C,c.(3586-3588)tGt>tCt,6,70,0,25
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,STX18,53407,4,4461137,4461137,Missense_Mutation,SNP,C,T,c.(313-315)aGg>aAg,6,135,0,61
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,EVC2,132884,4,5624540,5624540,Missense_Mutation,SNP,G,A,c.(2224-2226)tCg>tTg,13,1214,0,263
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SH3TC1,54436,4,8239350,8239350,Missense_Mutation,SNP,G,A,c.(3706-3708)Gtg>Atg,8,288,0,65
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ACOX3,8310,4,8416085,8416085,Silent,SNP,G,A,c.(475-477)acC>acT,7,342,0,109
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CCKAR,886,4,26483598,26483598,Missense_Mutation,SNP,C,T,c.(949-951)Gtc>Atc,11,887,1,187
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PCDH7,5099,4,30725802,30725802,Missense_Mutation,SNP,G,A,c.(2758-2760)Gaa>Aaa,6,210,0,85
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DTHD1,401124,4,36295191,36295191,Missense_Mutation,SNP,C,T,c.(886-888)tCt>tTt,4,24,0,13
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RELL1,768211,4,37624476,37624476,Intron,SNP,A,G,,5,154,0,40
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RELL1,768211,4,37624512,37624512,Intron,SNP,T,C,,5,95,0,39
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,UCHL1,7345,4,41263939,41263939,Splice_Site,SNP,G,A,c.(457-459)cGg>cAg,9,267,0,133
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CNGA1,1259,4,47972960,47972960,5'UTR,SNP,A,G,,6,48,0,16
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC4A4,8671,4,72316953,72316953,Silent,SNP,G,A,c.(1255-1257)acG>acA,5,132,0,94
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ART3,419,4,77020175,77020175,Intron,SNP,T,C,,5,124,0,38
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SHROOM3,57619,4,77662882,77662882,Missense_Mutation,SNP,G,A,c.(3556-3558)Ggg>Agg,10,800,1,193
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ANTXR2,118429,4,80945878,80945878,Intron,SNP,T,G,,4,111,0,40
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LIN54,132660,4,83860786,83860786,Missense_Mutation,SNP,T,A,c.(1345-1347)aAc>aTc,40,243,0,146
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FAM175A,84142,4,84401488,84401488,Intron,SNP,T,G,,7,67,0,18
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,WDFY3,23001,4,85676418,85676418,Splice_Site,SNP,C,T,c.e34+1,6,154,0,91
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DSPP,1834,4,88537538,88537538,Missense_Mutation,SNP,G,A,c.(3724-3726)Gat>Aat,10,851,0,314
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PPA2,27068,4,106307732,106307732,Missense_Mutation,SNP,C,T,c.(931-933)Gtt>Att,5,94,0,34
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PAPSS1,9061,4,108535512,108535512,Nonsense_Mutation,SNP,G,A,c.(1768-1770)Cga>Tga,7,135,0,95
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PAPSS1,9061,4,108575878,108575878,Silent,SNP,C,T,c.(1072-1074)acG>acA,6,156,0,91
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,OSTC,58505,4,109576746,109576746,Missense_Mutation,SNP,C,T,c.(166-168)Cct>Tct,5,100,0,54
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SEC24B,10427,4,110370651,110370651,Intron,SNP,T,G,,7,289,0,53
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LRIT3,345193,4,110791048,110791048,Silent,SNP,C,T,c.(1141-1143)agC>agT,8,82,0,52
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TBC1D9,23158,4,141583185,141583185,Silent,SNP,G,A,c.(1663-1665)ctC>ctT,5,138,0,117
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FREM3,166752,4,144621037,144621037,Silent,SNP,G,A,c.(790-792)taC>taT,7,303,0,67
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LRBA,987,4,151771882,151771882,Nonsense_Mutation,SNP,C,T,c.(3997-3999)tGg>tAg,3,12,0,17
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FHDC1,85462,4,153864328,153864328,Missense_Mutation,SNP,C,T,c.(118-120)cCa>cTa,4,88,0,33
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DCHS2,54798,4,155411177,155411177,Missense_Mutation,SNP,G,A,c.(1330-1332)gCg>gTg,38,269,0,49
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PLEKHG4B,153478,5,163614,163614,Missense_Mutation,SNP,C,T,c.(2359-2361)Ccc>Tcc,35,134,0,62
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RP11-43F13.3,0,5,989519,989519,RNA,SNP,T,C,,11,134,0,15
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RP11-43F13.3,0,5,989520,989520,RNA,SNP,G,A,,7,135,0,15
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC12A7,10723,5,1088465,1088465,Missense_Mutation,SNP,G,A,c.(499-501)aCc>aTc,8,484,0,106
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC6A18,348932,5,1246127,1246127,Silent,SNP,G,A,c.(1819-1821)acG>acA,15,1466,0,262
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,IRX4,50805,5,1878225,1878225,Missense_Mutation,SNP,G,A,c.(1417-1419)tCg>tTg,6,155,0,54
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MYO10,4651,5,16699685,16699685,Intron,SNP,G,A,,5,186,0,84
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GOLPH3,64083,5,32126689,32126689,Nonsense_Mutation,SNP,G,A,c.(526-528)Cga>Tga,4,24,0,37
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,IQGAP2,10788,5,75858370,75858370,Missense_Mutation,SNP,G,A,c.(295-297)cGt>cAt,5,34,0,17
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MEF2C,4208,5,88026021,88026021,Intron,SNP,C,T,,5,81,0,47
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,POLR3G,10622,5,89786469,89786469,Intron,SNP,T,G,,6,140,0,13
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FAM174A,345757,5,99871603,99871603,Silent,SNP,G,A,c.(367-369)cgG>cgA,5,119,0,47
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SNCAIP,9627,5,121739547,121739547,Missense_Mutation,SNP,C,A,c.(115-117)aaC>aaA,6,161,0,111
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC12A2,6558,5,127474591,127474591,Missense_Mutation,SNP,G,A,c.(1612-1614)Gta>Ata,5,53,0,26
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PDLIM4,8572,5,131607757,131607757,Silent,SNP,C,T,c.(826-828)ccC>ccT,8,637,0,180
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,BRD8,10902,5,137508405,137508405,Intron,SNP,G,A,,6,271,0,38
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PCDHA4,56144,5,140188251,140188251,Silent,SNP,G,A,c.(1477-1479)tcG>tcA,11,1315,0,315
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PCDHGA10,56106,5,140794548,140794548,Silent,SNP,C,T,c.(1804-1806)tcC>tcT,9,844,0,234
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PCDHGA12,26025,5,140811122,140811122,Missense_Mutation,SNP,G,A,c.(796-798)Gct>Act,7,268,0,61
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DIAPH1,1729,5,140905989,140905989,Missense_Mutation,SNP,G,A,c.(3313-3315)Cgg>Tgg,6,122,0,68
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C1QTNF2,114898,5,159781784,159781784,Missense_Mutation,SNP,C,T,c.(370-372)Gga>Aga,7,322,0,90
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GABRG2,2566,5,161529606,161529606,Intron,SNP,G,A,,6,184,0,67
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CREBRF,153222,5,172513526,172513526,Missense_Mutation,SNP,C,T,c.(31-33)cCg>cTg,6,136,0,55
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DBN1,1627,5,176894644,176894644,Intron,SNP,G,A,,9,563,0,87
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CBY3,646019,5,179105815,179105815,Silent,SNP,C,T,c.(496-498)cgG>cgA,7,334,0,107
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MGAT1,4245,5,180219529,180219529,Missense_Mutation,SNP,G,A,c.(442-444)aCg>aTg,10,848,0,118
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ERVFRD-1,405754,6,11104843,11104843,Missense_Mutation,SNP,C,T,c.(700-702)cGa>cAa,5,121,1,60
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DTNBP1,84062,6,15595395,15595395,Intron,SNP,C,T,,5,107,0,30
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DPCR1,135656,6,30918274,30918274,Missense_Mutation,SNP,A,G,c.(2032-2034)gAg>gGg,6,185,0,160
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DPCR1,135656,6,30918391,30918391,Missense_Mutation,SNP,C,T,c.(2149-2151)tCc>tTc,15,296,0,186
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TNXB,7148,6,32021207,32021207,Missense_Mutation,SNP,C,T,c.(8749-8751)Ggt>Agt,7,218,0,101
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ITPR3,3710,6,33635613,33635613,Silent,SNP,C,T,c.(1756-1758)ggC>ggT,8,222,0,67
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RNF8,9025,6,37336373,37336373,Silent,SNP,G,A,c.(352-354)gcG>gcA,5,116,0,55
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,BTBD9,114781,6,38142863,38142863,Silent,SNP,G,A,c.(1735-1737)gcC>gcT,8,923,0,196
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ABCC10,89845,6,43400500,43400500,Missense_Mutation,SNP,G,A,c.(781-783)cGt>cAt,7,299,0,73
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CAPN11,11131,6,44136760,44136760,Intron,SNP,A,T,,5,179,0,29
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC29A1,2030,6,44198194,44198194,Missense_Mutation,SNP,G,A,c.(565-567)Gtg>Atg,7,257,0,98
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TNFRSF21,27242,6,47221139,47221139,Silent,SNP,G,A,c.(1360-1362)gcC>gcT,11,873,0,171
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C6orf141,135398,6,49518731,49518731,Missense_Mutation,SNP,G,A,c.(226-228)Ggg>Agg,8,608,0,145
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PKHD1,5314,6,51918825,51918825,Intron,SNP,C,T,,5,138,0,94
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,BAI3,577,6,70048837,70048837,Missense_Mutation,SNP,C,T,c.(3217-3219)aCg>aTg,10,85,0,60
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C6orf165,154313,6,88138502,88138502,Silent,SNP,G,A,c.(1117-1119)gcG>gcA,5,77,0,69
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MICAL1,64780,6,109774874,109774874,Missense_Mutation,SNP,C,T,c.(433-435)Ggg>Agg,10,399,0,116
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GPR6,2830,6,110300984,110300984,Silent,SNP,G,A,c.(667-669)gcG>gcA,7,412,0,129
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RP11-510H23.1,0,6,125232758,125232758,RNA,SNP,A,C,,6,68,0,20
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LAMA2,3908,6,129670501,129670501,Missense_Mutation,SNP,C,T,c.(4495-4497)Cgg>Tgg,6,155,0,94
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MAP7,9053,6,136699013,136699013,Intron,SNP,G,A,,6,116,0,40
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TXLNB,167838,6,139564275,139564275,Silent,SNP,G,A,c.(1441-1443)aaC>aaT,8,292,0,153
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RP11-307P5.1,0,6,148050958,148050958,lincRNA,SNP,T,C,,7,220,0,53
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PLEKHG1,57480,6,151161026,151161026,Missense_Mutation,SNP,C,T,c.(3151-3153)cCc>cTc,4,44,0,30
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZBTB2,57621,6,151694693,151694693,Missense_Mutation,SNP,G,A,c.(79-81)aCg>aTg,6,188,0,64
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SYNE1,23345,6,152546886,152546886,Silent,SNP,G,A,c.(21319-21321)ctC>ctT,6,132,0,88
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SYNE1,23345,6,152757092,152757092,Missense_Mutation,SNP,C,T,c.(4294-4296)Gac>Aac,5,102,0,34
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,IGF2R,3482,6,160523613,160523613,Missense_Mutation,SNP,G,A,c.(6904-6906)cGg>cAg,8,742,0,82
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LPA,4018,6,161071438,161071438,Silent,SNP,C,T,c.(139-141)agG>agA,8,192,0,134
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DLL1,28514,6,170593097,170593097,Missense_Mutation,SNP,C,T,c.(1270-1272)Ggt>Agt,9,689,0,159
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ADAP1,11033,7,938841,938841,Silent,SNP,G,A,c.(925-927)Ctg>Ttg,9,743,0,159
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C7orf50,84310,7,1037344,1037344,Missense_Mutation,SNP,G,A,c.(502-504)Cgg>Tgg,7,411,0,109
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,INTS1,26173,7,1543630,1543630,5'UTR,SNP,G,C,,31,265,0,57
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ELFN1,392617,7,1785996,1785996,Silent,SNP,G,A,c.(1762-1764)tcG>tcA,8,489,0,76
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CHST12,55501,7,2472716,2472716,Missense_Mutation,SNP,G,A,c.(442-444)Gac>Aac,9,380,0,79
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AMZ1,155185,7,2742523,2742523,Splice_Site,SNP,G,A,c.(472-474)Gac>Aac,10,816,0,139
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RADIL,55698,7,4841430,4841430,Missense_Mutation,SNP,G,A,c.(2695-2697)tCg>tTg,10,505,0,138
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AIMP2,7965,7,6062967,6062967,Missense_Mutation,SNP,C,T,c.(607-609)aCg>aTg,5,35,0,12
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,EIF2AK1,27102,7,6067585,6067585,Intron,SNP,A,T,,7,122,0,28
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,EIF2AK1,27102,7,6097801,6097801,Intron,SNP,A,G,,7,300,0,52
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF853,54753,7,6662414,6662414,Missense_Mutation,SNP,G,A,c.(1792-1794)Gtg>Atg,9,683,0,103
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FAM221A,340277,7,23725924,23725924,Intron,SNP,T,C,,6,149,0,23
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FAM221A,340277,7,23725929,23725929,Intron,SNP,T,C,,5,142,0,24
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SNX10,29887,7,26404680,26404680,Missense_Mutation,SNP,C,T,c.(226-228)Ctt>Ttt,5,59,0,34
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,HOXA11,3207,7,27219637,27219637,IGR,SNP,C,T,,5,105,0,40
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CRHR2,1395,7,30695620,30695620,Silent,SNP,G,A,c.(838-840)ttC>ttT,8,137,0,48
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C7orf10,0,7,40257091,40257091,Intron,SNP,A,G,,8,116,0,34
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GCK,2645,7,44185263,44185263,Silent,SNP,G,A,c.(1084-1086)acC>acT,10,1157,0,200
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RAMP3,10268,7,45222880,45222880,Missense_Mutation,SNP,G,A,c.(316-318)Gtg>Atg,9,636,0,168
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FIGNL1,63979,7,50513938,50513938,Missense_Mutation,SNP,C,T,c.(1048-1050)Gga>Aga,4,48,0,52
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PHKG1,5260,7,56148908,56148908,Nonsense_Mutation,SNP,G,A,c.(1003-1005)Cga>Tga,11,1049,0,139
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GUSB,2990,7,65432843,65432843,Missense_Mutation,SNP,C,T,c.(1528-1530)Gac>Aac,6,268,0,149
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TRIM50,135892,7,72727440,72727440,Missense_Mutation,SNP,G,A,c.(940-942)aCg>aTg,8,475,0,69
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LIMK1,3984,7,73521444,73521444,Missense_Mutation,SNP,G,A,c.(985-987)cGg>cAg,8,686,0,95
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RFC2,5982,7,73646518,73646518,Missense_Mutation,SNP,G,A,c.(982-984)gCg>gTg,6,189,0,56
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CLIP2,7461,7,73779144,73779144,Intron,SNP,A,G,,6,90,0,15
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GTF2IRD1,9569,7,74004171,74004171,Intron,SNP,C,T,,4,74,0,25
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SEMA3C,10512,7,80546127,80546127,5'UTR,SNP,G,A,,4,24,0,21
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ABCB4,5244,7,87053256,87053256,Missense_Mutation,SNP,G,A,c.(2176-2178)cCg>cTg,5,129,0,113
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AKAP9,10142,7,91603280,91603280,Missense_Mutation,SNP,G,A,c.(340-342)Gaa>Aaa,4,47,0,31
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PON3,5446,7,95025674,95025674,5'Flank,SNP,G,A,,58,447,0,98
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DYNC1I1,1780,7,95739378,95739378,Missense_Mutation,SNP,A,G,c.(1804-1806)Aca>Gca,9,84,0,34
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LMTK2,22853,7,97822897,97822897,Silent,SNP,C,T,c.(3118-3120)ccC>ccT,8,663,0,120
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TECPR1,25851,7,97851698,97851698,Splice_Site,SNP,C,T,c.(3064-3066)Ggt>Agt,6,207,0,26
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TRRAP,8295,7,98530996,98530996,Missense_Mutation,SNP,G,A,c.(3985-3987)Gtg>Atg,6,170,0,65
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CPSF4,10898,7,99045396,99045396,Intron,SNP,A,T,,7,260,0,37
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CYP3A7,1551,7,99314799,99314799,Splice_Site,SNP,C,T,c.e6+1,8,227,0,125
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,STAG3,10734,7,99808809,99808809,Splice_Site,SNP,G,A,c.e30+1,4,10,0,15
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MUC12,10071,7,100635847,100635847,Missense_Mutation,SNP,T,C,c.(2431-2433)aTt>aCt,6,429,0,215
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MUC17,140453,7,100676241,100676241,Missense_Mutation,SNP,G,A,c.(1543-1545)aGt>aAt,5,98,0,102
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SH2B2,10603,7,101943885,101943885,Silent,SNP,G,A,c.(178-180)ccG>ccA,10,623,1,105
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PSMC2,5701,7,103008194,103008194,Missense_Mutation,SNP,C,T,c.(1081-1083)tCa>tTa,5,59,0,31
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PUS7,54517,7,105098264,105098264,Silent,SNP,C,T,c.(1957-1959)acG>acA,5,76,0,42
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FOXP2,93986,7,114270054,114270054,Silent,SNP,G,A,c.(589-591)gcG>gcA,8,400,0,177
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SND1,27044,7,127727067,127727067,Silent,SNP,G,A,c.(2380-2382)acG>acA,8,299,0,81
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FLNC,2318,7,128485051,128485051,Missense_Mutation,SNP,G,A,c.(3532-3534)Gtg>Atg,6,138,0,63
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CPA5,93979,7,130007374,130007374,Missense_Mutation,SNP,G,A,c.(1000-1002)Ggc>Agc,7,238,0,111
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PLXNA4,91584,7,131912227,131912227,Missense_Mutation,SNP,C,T,c.(1864-1866)cGg>cAg,6,217,0,51
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NDUFB2,4708,7,140395950,140395950,5'Flank,SNP,G,A,,7,301,0,60
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF786,136051,7,148778305,148778305,Intron,SNP,A,G,,6,77,0,40
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF783,100289678,7,148991852,148991852,IGR,SNP,C,T,,9,653,0,120
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF777,27153,7,149129800,149129800,Silent,SNP,G,A,c.(1561-1563)caC>caT,10,830,0,119
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SSPO,23145,7,149492658,149492658,RNA,SNP,C,T,,8,330,0,102
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NOS3,4846,7,150708877,150708877,Intron,SNP,C,G,,4,76,0,21
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TDRP,157695,8,442579,442579,Silent,SNP,G,A,c.(376-378)acC>acT,5,145,0,91
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CLDN23,137075,8,8560471,8560471,Missense_Mutation,SNP,G,A,c.(562-564)cGt>cAt,5,173,0,51
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FGF20,26281,8,16853255,16853255,Missense_Mutation,SNP,A,C,c.(298-300)tTc>tGc,7,7,0,26
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TTI2,80185,8,33364776,33364776,Silent,SNP,G,A,c.(898-900)Ctg>Ttg,5,89,0,86
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GPR124,25960,8,37697784,37697784,Splice_Site,SNP,G,A,c.(2656-2658)cGg>cAg,7,261,0,131
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,XKR9,389668,8,71595837,71595837,Intron,SNP,A,C,,12,199,0,47
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FAM92A1,137392,8,94736744,94736744,Intron,SNP,A,G,,7,253,0,58
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,Unknown,0,8,101669991,101669991,IGR,SNP,T,C,,12,215,0,87
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ENY2,56943,8,110354930,110354930,Missense_Mutation,SNP,G,A,c.(226-228)Gcc>Acc,9,276,0,61
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PKHD1L1,93035,8,110457036,110457036,Silent,SNP,G,A,c.(4936-4938)acG>acA,6,81,0,57
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TRIB1,10221,8,126443277,126443277,Missense_Mutation,SNP,G,A,c.(133-135)Gcc>Acc,6,456,0,106
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GSDMC,56169,8,130772796,130772796,Missense_Mutation,SNP,T,C,c.(715-717)cAa>cGa,4,27,0,26
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,OC90,729330,8,133051305,133051305,Nonsense_Mutation,SNP,G,A,c.(523-525)Cga>Tga,7,388,0,142
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C8orf17,100507249,8,140944744,140944744,Missense_Mutation,SNP,C,T,c.(214-216)aCg>aTg,10,221,0,95
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C8orf17,100507249,8,140944745,140944745,Silent,SNP,G,A,c.(214-216)acG>acA,7,223,0,91
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TRAPPC9,83696,8,141381238,141381238,Silent,SNP,G,A,c.(1174-1176)tcC>tcT,7,609,0,125
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SCRIB,23513,8,144885585,144885585,Missense_Mutation,SNP,C,T,c.(3571-3573)Ggc>Agc,9,362,0,46
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,EPPK1,83481,8,144940551,144940551,Missense_Mutation,SNP,C,T,c.(6871-6873)Gtg>Atg,24,3626,0,867
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PLEC,5339,8,144991734,144991734,Silent,SNP,G,A,c.(12664-12666)gaC>gaT,14,635,0,187
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GRINA,2907,8,145066741,145066741,Missense_Mutation,SNP,G,A,c.(931-933)Gtg>Atg,8,463,0,101
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SPATC1,375686,8,145101732,145101732,Missense_Mutation,SNP,G,A,c.(1651-1653)Gtg>Atg,13,1244,0,169
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,OPLAH,26873,8,145114672,145114672,Missense_Mutation,SNP,G,A,c.(193-195)Cgg>Tgg,7,304,0,70
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,KIAA1875,340390,8,145165287,145165287,Silent,SNP,C,T,c.(1885-1887)gcC>gcT,11,1037,0,161
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,HSF1,3297,8,145537504,145537504,Intron,SNP,C,T,,7,361,0,87
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TMEM249,340393,8,145577668,145577668,Missense_Mutation,SNP,C,T,c.(388-390)Gtg>Atg,9,473,0,67
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ADCK5,203054,8,145617866,145617866,Missense_Mutation,SNP,G,A,c.(1474-1476)Gtg>Atg,9,531,0,94
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC39A4,55630,8,145638149,145638149,Silent,SNP,G,A,c.(1807-1809)tgC>tgT,12,993,0,169
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PPP1R16A,84988,8,145726978,145726978,Nonsense_Mutation,SNP,C,T,c.(1279-1281)Cga>Tga,5,115,0,29
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LRRC14,9684,8,145746021,145746021,Silent,SNP,C,T,c.(727-729)caC>caT,10,662,0,94
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DOCK8,81704,9,220816,220816,Intron,SNP,A,G,,6,59,0,17
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,IL11RA,3590,9,34658639,34658639,Missense_Mutation,SNP,C,T,c.(769-771)Cgt>Tgt,8,966,0,211
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NPR2,4882,9,35808567,35808567,Missense_Mutation,SNP,G,A,c.(2773-2775)cGc>cAc,7,250,0,161
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TMEM2,23670,9,74319658,74319658,Missense_Mutation,SNP,G,A,c.(3046-3048)cCg>cTg,7,188,0,109
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TRPM6,140803,9,77490191,77490191,Intron,SNP,A,G,,5,112,0,35
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,Unknown,0,9,82006453,82006453,IGR,SNP,G,A,,10,654,0,186
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SPATA31D1,389763,9,84607459,84607459,Nonsense_Mutation,SNP,C,T,c.(2074-2076)Cga>Tga,9,356,0,206
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,IDNK,414328,9,86241515,86241515,Intron,SNP,T,A,,9,185,0,35
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PHF2,5253,9,96437286,96437286,Missense_Mutation,SNP,G,A,c.(2704-2706)Gct>Act,6,210,0,60
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FANCC,2176,9,97885668,97885668,Intron,SNP,C,T,,9,46,0,14
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PTCH1,5727,9,98209575,98209575,Silent,SNP,G,A,c.(3961-3963)gaC>gaT,9,583,0,133
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,INVS,27130,9,103055025,103055025,Missense_Mutation,SNP,G,A,c.(2485-2487)cGt>cAt,8,447,0,160
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,COL27A1,85301,9,116980132,116980132,Intron,SNP,A,G,,5,126,1,30
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,COL27A1,85301,9,116980145,116980145,Intron,SNP,A,G,,6,83,0,27
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C5,727,9,123762229,123762229,Intron,SNP,T,C,,9,66,0,16
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LHX6,26468,9,124989242,124989242,Missense_Mutation,SNP,G,A,c.(136-138)aCg>aTg,7,188,0,26
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LMX1B,4010,9,129455545,129455545,Silent,SNP,G,A,c.(682-684)acG>acA,10,883,1,124
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FAM102A,399665,9,130712735,130712735,Silent,SNP,C,T,c.(379-381)acG>acA,9,532,0,65
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SPTAN1,6709,9,131337056,131337056,Nonsense_Mutation,SNP,C,T,c.(466-468)Cga>Tga,8,309,0,151
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,WDR34,89891,9,131399311,131399311,Intron,SNP,G,A,,7,187,0,55
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,WDR34,89891,9,131402973,131402973,Silent,SNP,C,T,c.(430-432)caG>caA,5,89,0,30
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LRRC8A,56262,9,131670934,131670934,Silent,SNP,G,A,c.(1489-1491)gcG>gcA,7,415,0,67
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CRAT,1384,9,131858358,131858358,Silent,SNP,G,A,c.(1582-1584)atC>atT,7,493,0,109
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC2A6,11182,9,136340135,136340135,Missense_Mutation,SNP,G,A,c.(874-876)aCg>aTg,7,464,0,60
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DBH,1621,9,136501808,136501808,Silent,SNP,C,T,c.(313-315)acC>acT,8,519,0,124
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SARDH,1757,9,136590705,136590705,Intron,SNP,C,G,,8,125,0,33
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,VAV2,7410,9,136629182,136629182,3'UTR,SNP,C,T,,9,235,0,73
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FCN2,2220,9,137777728,137777728,Missense_Mutation,SNP,G,A,c.(544-546)Gcc>Acc,5,111,0,40
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,UBAC1,10422,9,138837046,138837046,Missense_Mutation,SNP,G,A,c.(703-705)cCg>cTg,6,231,0,42
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NOTCH1,4851,9,139401376,139401376,Silent,SNP,G,A,c.(3691-3693)ccC>ccT,11,849,0,176
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NOTCH1,4851,9,139417504,139417504,Silent,SNP,G,A,c.(538-540)aaC>aaT,10,745,0,155
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LCN15,389812,9,139651585,139651585,IGR,SNP,G,A,,8,665,0,115
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FBXW5,54461,9,139837212,139837212,Intron,SNP,C,T,,8,432,0,118
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ABCA2,20,9,139906151,139906151,Silent,SNP,G,A,c.(5581-5583)ttC>ttT,12,734,0,117
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ABCA2,20,9,139917255,139917255,Missense_Mutation,SNP,G,A,c.(334-336)gCg>gTg,9,655,0,113
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NDOR1,27158,9,140110859,140110859,Silent,SNP,G,A,c.(1783-1785)acG>acA,9,394,0,56
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NSMF,26012,9,140351868,140351868,Missense_Mutation,SNP,G,A,c.(619-621)Cgt>Tgt,11,978,0,203
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CALML3,810,10,5567428,5567428,Missense_Mutation,SNP,G,A,c.(379-381)cGg>cAg,5,221,1,55
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ECHDC3,79746,10,11797468,11797468,Missense_Mutation,SNP,C,T,c.(451-453)gCg>gTg,8,454,0,102
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SEPHS1,22929,10,13365013,13365013,Silent,SNP,G,A,c.(784-786)gcC>gcT,8,626,0,115
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ITGA8,8516,10,15573112,15573112,Silent,SNP,G,A,c.(2917-2919)tcC>tcT,4,60,0,37
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ARHGAP21,57584,10,24880815,24880815,Splice_Site,SNP,C,T,c.e22+1,4,16,0,14
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF33A,7581,10,38328344,38328344,Intron,SNP,T,C,,6,152,0,27
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NCOA4,8031,10,51573381,51573381,Intron,SNP,G,A,,7,342,0,18
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CSTF2T,23283,10,53458049,53458049,Missense_Mutation,SNP,G,A,c.(1261-1263)Cgt>Tgt,7,75,1,43
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C10orf105,414152,10,73483829,73483829,Intron,SNP,G,A,,7,430,0,116
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ANXA11,311,10,81927076,81927076,Intron,SNP,G,A,,7,265,0,72
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PAPSS2,9060,10,89487101,89487101,Missense_Mutation,SNP,G,A,c.(925-927)cGg>cAg,7,246,0,176
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PAPSS2,9060,10,89487142,89487142,Missense_Mutation,SNP,C,T,c.(967-969)Cgg>Tgg,6,289,0,202
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ENTPD1,953,10,97624495,97624495,Silent,SNP,C,T,c.(1201-1203)taC>taT,6,128,0,92
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RBM20,282996,10,112540825,112540825,Missense_Mutation,SNP,C,T,c.(457-459)cCc>cTc,7,436,0,212
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RBM20,282996,10,112557397,112557397,Silent,SNP,G,A,c.(1657-1659)tcG>tcA,5,75,0,42
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,VWA2,340706,10,116038580,116038580,Missense_Mutation,SNP,C,T,c.(802-804)gCg>gTg,7,478,0,93
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TIAL1,7073,10,121341444,121341444,Missense_Mutation,SNP,C,T,c.(361-363)Ggt>Agt,5,65,0,30
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NSMCE4A,54780,10,123721518,123721518,Intron,SNP,A,G,,5,28,0,11
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CTBP2,1488,10,126716276,126716276,Intron,SNP,G,A,,6,127,0,31
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,STK32C,282974,10,134041607,134041607,De_novo_Start_InFrame,SNP,G,A,,9,545,0,165
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ANO9,338440,11,429587,429587,Missense_Mutation,SNP,C,T,c.(898-900)Gtg>Atg,8,359,0,86
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CDHR5,53841,11,619690,619690,Silent,SNP,C,T,c.(1168-1170)ccG>ccA,7,288,0,63
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC25A22,79751,11,800805,800805,5'Flank,SNP,C,T,,6,236,0,50
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PIDD,0,11,801809,801809,Intron,SNP,G,A,,7,129,1,40
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SYT8,90019,11,1856390,1856390,Missense_Mutation,SNP,A,C,c.(97-99)Ata>Cta,38,226,0,91
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC22A18AS,5003,11,2909667,2909667,Missense_Mutation,SNP,C,T,c.(505-507)Gga>Aga,7,290,0,151
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF195,7748,11,3383020,3383020,Missense_Mutation,SNP,T,C,c.(325-327)aAc>aGc,5,161,0,48
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RRM1,6240,11,4126848,4126848,Intron,SNP,C,T,,5,98,0,15
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,OR52A4,390053,11,5142219,5142219,RNA,SNP,A,G,,3,11,0,15
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DNHD1,144132,11,6592120,6592120,Missense_Mutation,SNP,G,A,c.(13378-13380)Gtg>Atg,7,301,0,78
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RRP8,23378,11,6622731,6622731,Missense_Mutation,SNP,G,A,c.(565-567)Cgg>Tgg,6,242,0,123
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RBMXL2,27288,11,7110511,7110511,Missense_Mutation,SNP,G,A,c.(160-162)Gtc>Atc,9,919,0,255
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RPS13,6207,11,17098057,17098057,Intron,SNP,C,T,,8,114,0,19
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RPS13,6207,11,17098075,17098075,Intron,SNP,A,C,,17,153,0,21
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RP11-113D6.10,0,11,18231596,18231596,Missense_Mutation,SNP,A,G,c.(382-384)Acc>Gcc,8,19,0,36
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TCP11L1,55346,11,33078149,33078149,Intron,SNP,T,C,,4,46,0,13
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LDLRAD3,143458,11,36123520,36123520,Intron,SNP,G,C,,6,28,0,9
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DGKZ,8525,11,46388319,46388319,Silent,SNP,C,T,c.(511-513)gcC>gcT,7,458,0,134
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C1QTNF4,114900,11,47612186,47612186,Silent,SNP,G,A,c.(175-177)ggC>ggT,9,549,0,146
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PTPRJ,5795,11,48177582,48177582,Missense_Mutation,SNP,C,T,c.(3349-3351)Ccg>Tcg,5,96,0,33
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,OR5D16,390144,11,55606506,55606506,Silent,SNP,C,T,c.(277-279)acC>acT,5,79,0,62
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC43A1,8501,11,57268319,57268319,Missense_Mutation,SNP,G,A,c.(397-399)cCg>cTg,7,365,0,94
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TMEM132A,54972,11,60701125,60701125,Missense_Mutation,SNP,G,A,c.(1468-1470)Gtg>Atg,10,726,0,112
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TMEM132A,54972,11,60702174,60702174,Missense_Mutation,SNP,G,A,c.(1774-1776)Gta>Ata,11,617,0,86
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DDB1,1642,11,61071387,61071387,Missense_Mutation,SNP,G,A,c.(2782-2784)Cgc>Tgc,7,219,0,100
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC3A2,6520,11,62644260,62644260,Intron,SNP,A,G,,6,68,0,23
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RP11-466C23.4,0,11,63533444,63533444,lincRNA,SNP,G,A,,5,151,0,42
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,STIP1,10963,11,63971099,63971099,Intron,SNP,G,A,,6,198,0,95
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PYGM,5837,11,64521742,64521742,Missense_Mutation,SNP,G,A,c.(1075-1077)Cgg>Tgg,9,400,0,154
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CDC42BPG,55561,11,64596976,64596976,Missense_Mutation,SNP,C,T,c.(3934-3936)Gag>Aag,9,798,0,166
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC29A2,3177,11,66138725,66138725,Missense_Mutation,SNP,G,A,c.(100-102)aCc>aTc,6,276,0,111
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CABP2,51475,11,67287394,67287394,Silent,SNP,G,A,c.(505-507)gaC>gaT,11,253,0,59
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TCIRG1,10312,11,67812569,67812569,Splice_Site,SNP,G,A,c.(1165-1167)Gct>Act,7,451,0,125
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SUV420H1,51111,11,67941571,67941571,Intron,SNP,G,T,,7,285,0,84
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LRP5,4041,11,68157500,68157500,Missense_Mutation,SNP,G,A,c.(1564-1566)Gcc>Acc,9,443,1,111
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MRPL21,219927,11,68660872,68660872,Splice_Site,SNP,C,T,c.(448-450)Gga>Aga,5,185,0,61
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SHANK2,22941,11,70754013,70754013,Intron,SNP,T,C,,12,278,0,66
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FAM86C1,55199,11,71507058,71507058,Intron,SNP,C,T,,14,649,1,167
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,INPPL1,3636,11,71939514,71939514,Silent,SNP,G,A,c.(367-369)ccG>ccA,6,328,0,67
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SYTL2,54843,11,85419139,85419139,Intron,SNP,A,G,,5,158,0,21
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CCDC67,159989,11,93085575,93085575,Intron,SNP,G,A,,4,29,0,28
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,VSTM5,387804,11,93554378,93554378,Missense_Mutation,SNP,G,A,c.(202-204)aCa>aTa,7,182,0,144
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,HSPB2,3316,11,111784522,111784522,Missense_Mutation,SNP,G,A,c.(451-453)cGa>cAa,7,290,0,76
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SDHD,6392,11,111963926,111963926,Intron,SNP,C,G,,7,87,0,10
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NLRX1,79671,11,119052877,119052877,Missense_Mutation,SNP,C,T,c.(2428-2430)aCg>aTg,12,756,0,141
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FOXRED1,55572,11,126141382,126141382,Missense_Mutation,SNP,C,T,c.(136-138)Cct>Tct,8,390,0,188
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,KIRREL3,84623,11,126294707,126294707,Missense_Mutation,SNP,G,A,c.(2104-2106)tCg>tTg,12,557,0,129
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FLI1,2313,11,128680467,128680467,Missense_Mutation,SNP,G,A,c.(943-945)Gat>Aat,8,230,0,74
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ADAMTS15,170689,11,130343336,130343336,Missense_Mutation,SNP,G,A,c.(2473-2475)Gtc>Atc,32,198,0,65
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SNX19,399979,11,130748457,130748457,Intron,SNP,G,A,,4,26,0,26
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TNFRSF1A,7132,12,6441133,6441133,Intron,SNP,T,C,,7,90,0,9
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CHD4,1108,12,6691773,6691773,Intron,SNP,C,T,,3,4,0,16
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CD163,9332,12,7633811,7633811,Missense_Mutation,SNP,G,A,c.(3289-3291)Cgg>Tgg,4,51,0,28
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NANOGNB,360030,12,7917905,7917905,Silent,SNP,G,A,c.(22-24)acG>acA,11,112,0,42
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC2A14,144195,12,7970545,7970545,Missense_Mutation,SNP,G,A,c.(1225-1227)cCc>cTc,6,232,0,105
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ITPR2,3709,12,26809387,26809387,Missense_Mutation,SNP,G,A,c.(2287-2289)Cgg>Tgg,9,497,0,155
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TMTC1,83857,12,29819199,29819199,Intron,SNP,C,T,,6,35,0,9
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TMTC1,83857,12,29819200,29819200,Intron,SNP,A,G,,6,35,0,9
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CAPRIN2,65981,12,30884302,30884302,Silent,SNP,C,T,c.(1033-1035)tcG>tcA,4,26,0,8
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,Unknown,0,12,31284307,31284307,IGR,SNP,C,T,,3,19,0,40
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MUC19,283463,12,40925047,40925047,3'UTR,SNP,G,A,,17,121,0,76
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RAPGEF3,10411,12,48133942,48133942,Silent,SNP,G,A,c.(2353-2355)tcC>tcT,9,777,0,119
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC48A1,55652,12,48174389,48174389,3'UTR,SNP,A,G,,5,27,0,25
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC48A1,55652,12,48174625,48174625,3'UTR,SNP,T,C,,7,142,0,46
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,COL2A1,1280,12,48376389,48376389,Missense_Mutation,SNP,C,A,c.(2197-2199)Gca>Tca,6,164,0,62
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RP1-228P16.5,0,12,48413844,48413844,Silent,SNP,C,T,c.(397-399)taG>taA,5,52,0,45
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FKBP11,51303,12,49318948,49318948,Intron,SNP,C,T,,3,13,0,18
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CERS5,91012,12,50548020,50548020,Intron,SNP,T,C,,5,84,0,13
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC11A2,4891,12,51420123,51420123,5'UTR,SNP,G,A,,6,90,0,41
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TENC1,23371,12,53448168,53448168,Silent,SNP,G,A,c.(463-465)cgG>cgA,5,181,0,80
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TENC1,23371,12,53451878,53451878,Missense_Mutation,SNP,G,A,c.(1087-1089)Gat>Aat,8,261,0,100
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CAND1,55832,12,67699093,67699093,Missense_Mutation,SNP,G,A,c.(1645-1647)Gta>Ata,4,17,0,25
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MDM2,4193,12,69209442,69209442,Intron,SNP,G,T,,6,128,0,28
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CEP290,80184,12,88500506,88500506,Silent,SNP,C,T,c.(2761-2763)ttG>ttA,4,33,0,17
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,POLR3B,55703,12,106824129,106824129,Missense_Mutation,SNP,G,A,c.(1342-1344)Gca>Aca,5,118,0,114
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SSH1,54434,12,109230744,109230744,Intron,SNP,T,C,,7,177,0,42
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MMAB,326625,12,109993215,109993215,3'UTR,SNP,A,G,,3,21,0,14
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ACAD10,80724,12,112148092,112148092,Intron,SNP,G,A,,8,249,0,69
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ACAD10,80724,12,112171802,112171802,Silent,SNP,C,T,c.(1468-1470)ggC>ggT,6,251,0,117
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TPCN1,53373,12,113663128,113663128,Intron,SNP,C,T,,6,104,0,34
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RBM19,9904,12,114377882,114377882,Silent,SNP,G,A,c.(1819-1821)ttC>ttT,10,554,1,90
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SRRM4,84530,12,119594498,119594498,Silent,SNP,G,A,c.(1729-1731)ccG>ccA,10,751,0,191
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,KNTC1,9735,12,123057555,123057555,Silent,SNP,G,A,c.(2089-2091)acG>acA,4,51,0,28
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ABCB9,23457,12,123430653,123430653,Silent,SNP,C,T,c.(1168-1170)gtG>gtA,10,619,0,192
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DNAH10,196385,12,124402288,124402288,Silent,SNP,G,A,c.(10804-10806)acG>acA,8,374,0,168
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,UBC,7316,12,125396289,125396289,Silent,SNP,A,G,c.(889-891)Ttg>Ctg,4,86,0,84
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,UBC,7316,12,125396296,125396296,Silent,SNP,A,G,c.(880-882)acT>acC,5,109,0,87
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,POLE,5426,12,133226032,133226032,Missense_Mutation,SNP,G,A,c.(3865-3867)Cgc>Tgc,7,743,0,133
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF268,10795,12,133761313,133761313,Intron,SNP,T,C,,7,256,0,40
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF268,10795,12,133761327,133761327,Intron,SNP,T,C,,9,187,0,34
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZDHHC20,253832,13,21948620,21948620,IGR,SNP,A,C,,7,78,0,25
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZDHHC20,253832,13,21948625,21948625,IGR,SNP,T,C,,5,74,0,22
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SACS,26278,13,23915723,23915723,Nonsense_Mutation,SNP,C,T,c.(2290-2292)tgG>tgA,6,38,0,52
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TPTE2P1,646405,13,25516213,25516213,RNA,SNP,A,G,,5,75,0,17
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FLT3,2322,13,28578214,28578214,Missense_Mutation,SNP,G,A,c.(2956-2958)cCg>cTg,31,66,0,84
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PAN3,255967,13,28752023,28752023,Missense_Mutation,SNP,C,T,c.(640-642)tCa>tTa,5,89,1,64
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MYCBP2,23077,13,77756020,77756020,Missense_Mutation,SNP,C,T,c.(4642-4644)cGa>cAa,6,83,1,69
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,UBAC2,337867,13,99886641,99886641,Intron,SNP,G,A,,8,59,0,12
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TPP2,7174,13,103260039,103260039,Intron,SNP,T,C,,8,244,0,43
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TPP2,7174,13,103260046,103260046,Intron,SNP,T,C,,13,217,0,41
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MYO16,23026,13,109507847,109507847,Silent,SNP,T,C,c.(1237-1239)aaT>aaC,28,21,0,19
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,F10,2159,13,113803429,113803429,Silent,SNP,G,A,c.(1063-1065)acG>acA,12,1155,0,227
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,F10,2159,13,113803438,113803438,Silent,SNP,G,A,c.(1072-1074)acG>acA,13,1199,0,234
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ARHGEF40,55701,14,21552988,21552988,Missense_Mutation,SNP,G,A,c.(3865-3867)cGc>cAc,6,210,0,87
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PSMB11,122706,14,23512051,23512051,Missense_Mutation,SNP,G,A,c.(616-618)cGc>cAc,8,525,0,105
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CPNE6,9362,14,24546501,24546501,Missense_Mutation,SNP,C,T,c.(1438-1440)Cgg>Tgg,9,715,1,137
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AP4S1,11154,14,31552750,31552750,Intron,SNP,A,G,,5,160,0,25
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,HECTD1,25831,14,31637551,31637551,Silent,SNP,C,T,c.(1573-1575)ttG>ttA,5,107,0,53
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NPAS3,64067,14,34269194,34269194,Missense_Mutation,SNP,G,A,c.(1681-1683)Gtg>Atg,11,1072,0,208
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FSCB,84075,14,44974370,44974370,Silent,SNP,A,G,c.(1819-1821)ccT>ccC,6,453,0,121
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TMEM260,54916,14,57114113,57114113,Silent,SNP,C,T,c.(2020-2022)taC>taT,8,194,0,124
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RHOJ,57381,14,63757724,63757724,Silent,SNP,C,T,c.(625-627)agC>agT,6,206,0,143
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,HSPA2,3306,14,65008929,65008929,Silent,SNP,G,A,c.(1360-1362)aaG>aaA,5,214,0,114
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF410,57862,14,74391440,74391440,Intron,SNP,T,C,,6,60,0,9
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LTBP2,4053,14,75052671,75052671,Nonsense_Mutation,SNP,C,T,c.(715-717)tGg>tAg,6,288,0,113
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AREL1,9870,14,75144937,75144937,Intron,SNP,C,T,,7,86,0,41
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ADCK1,57143,14,78294258,78294258,Intron,SNP,A,G,,4,43,0,20
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GPR68,8111,14,91700745,91700745,Missense_Mutation,SNP,C,T,c.(649-651)gGc>gAc,7,342,0,64
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RP11-796G6.2,0,14,102198690,102198690,3'UTR,SNP,G,A,,6,180,0,115
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DYNC1H1,1778,14,102482355,102482355,Missense_Mutation,SNP,G,A,c.(7405-7407)Gtg>Atg,8,366,0,100
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PPP1R13B,23368,14,104260931,104260931,Intron,SNP,T,C,,6,93,0,33
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,INF2,64423,14,105169704,105169704,Missense_Mutation,SNP,G,A,c.(580-582)Gtg>Atg,9,874,1,285
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,JAG2,3714,14,105618320,105618320,Missense_Mutation,SNP,G,A,c.(994-996)Cgc>Tgc,9,664,0,167
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GABRB3,2562,15,26825591,26825591,Missense_Mutation,SNP,G,A,c.(556-558)aCg>aTg,8,379,0,191
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,OCA2,4948,15,28202862,28202862,Silent,SNP,G,A,c.(1654-1656)caC>caT,13,1336,0,305
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,OCA2,4948,15,28326988,28326988,Silent,SNP,G,A,c.(31-33)taC>taT,9,872,1,158
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RYR3,6263,15,34117878,34117878,Splice_Site,SNP,G,A,c.e82+1,5,91,0,31
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,BUB1B,701,15,40458581,40458581,Intron,SNP,G,C,,5,136,0,19
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DLL4,54567,15,41228538,41228538,Silent,SNP,C,T,c.(1351-1353)caC>caT,9,646,0,130
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MAP1A,4130,15,43812833,43812833,Intron,SNP,C,T,,5,112,0,49
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FAM227B,196951,15,49869409,49869409,Intron,SNP,A,G,,5,42,0,10
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DYX1C1,161582,15,55731688,55731688,Nonsense_Mutation,SNP,C,T,c.(874-876)tGg>tAg,4,81,0,42
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MYO1E,4643,15,59470658,59470658,Silent,SNP,C,T,c.(1981-1983)tcG>tcA,6,323,0,95
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ANKDD1A,348094,15,65249482,65249482,Silent,SNP,C,T,c.(1522-1524)tcC>tcT,6,165,0,28
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ANKDD1A,348094,15,65249507,65249507,Missense_Mutation,SNP,G,C,c.(1549-1551)Gtg>Ctg,6,104,0,27
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ANKDD1A,348094,15,65249522,65249522,Missense_Mutation,SNP,G,A,c.(1564-1566)Gag>Aag,5,73,0,20
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SNAPC5,10302,15,66782824,66782824,3'UTR,SNP,G,A,,9,267,0,136
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ARNT2,9915,15,80762737,80762737,Missense_Mutation,SNP,G,A,c.(373-375)Gat>Aat,9,266,0,95
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ABHD2,11057,15,89738627,89738627,Silent,SNP,G,A,c.(1249-1251)acG>acA,6,148,0,83
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,POLG,5428,15,89868922,89868922,Intron,SNP,G,A,,10,603,0,123
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,KIF7,374654,15,90171768,90171768,Missense_Mutation,SNP,C,T,c.(3913-3915)cGg>cAg,7,256,0,55
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GDPGP1,390637,15,90784550,90784550,Missense_Mutation,SNP,G,A,c.(409-411)cGt>cAt,7,291,0,129
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DNM1P46,196968,15,100330531,100330531,RNA,SNP,T,C,,7,62,0,21
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CTD-2054N24.2,0,15,100353197,100353197,Missense_Mutation,SNP,T,G,c.(151-153)aTg>aGg,10,239,0,77
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LRRK1,79705,15,101567929,101567929,Silent,SNP,G,A,c.(2611-2613)acG>acA,12,787,0,102
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,OR4F15,390649,15,102358459,102358459,Nonsense_Mutation,SNP,C,T,c.(70-72)Cag>Tag,5,30,0,23
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CAPN15,6650,16,599780,599780,Missense_Mutation,SNP,G,A,c.(2008-2010)Gag>Aag,12,1184,0,136
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,WDR24,84219,16,737666,737666,Silent,SNP,G,A,c.(943-945)aaC>aaT,8,721,0,125
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LMF1,64788,16,904645,904645,Missense_Mutation,SNP,C,T,c.(1591-1593)Gag>Aag,10,955,0,166
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SSTR5,6755,16,1131200,1131200,3'UTR,SNP,G,A,,5,93,0,34
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CACNA1H,8912,16,1250521,1250521,Missense_Mutation,SNP,G,A,c.(1069-1071)Ggt>Agt,9,623,0,121
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CACNA1H,8912,16,1250551,1250551,Missense_Mutation,SNP,G,A,c.(1099-1101)Gcc>Acc,8,387,0,100
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C16orf91,283951,16,1470577,1470577,Silent,SNP,G,A,c.(67-69)tcC>tcT,5,110,1,44
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TBL3,10607,16,2024988,2024988,Missense_Mutation,SNP,C,T,c.(523-525)gCc>gTc,12,718,0,92
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TSC2,7249,16,2129400,2129400,Silent,SNP,G,A,c.(3253-3255)tcG>tcA,9,929,0,206
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PKD1,5310,16,2153439,2153439,Silent,SNP,G,A,c.(8617-8619)acC>acT,13,1445,0,430
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PKD1,5310,16,2153822,2153822,Missense_Mutation,SNP,G,A,c.(8236-8238)Cgg>Tgg,12,1284,0,286
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PKD1,5310,16,2160596,2160596,Silent,SNP,G,A,c.(4570-4572)acC>acT,10,445,0,124
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ABCA3,21,16,2347838,2347838,Missense_Mutation,SNP,G,A,c.(1981-1983)Cgg>Tgg,12,651,0,142
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NTN3,4917,16,2522764,2522764,Missense_Mutation,SNP,G,A,c.(991-993)Ggc>Agc,10,861,0,126
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TBC1D24,57465,16,2546695,2546695,Silent,SNP,G,A,c.(544-546)acG>acA,13,1033,0,241
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AMDHD2,51005,16,2578282,2578282,Missense_Mutation,SNP,C,T,c.(763-765)Cgg>Tgg,8,856,1,146
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TFAP4,7023,16,4308131,4308131,Silent,SNP,G,A,c.(940-942)tcC>tcT,7,587,1,85
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GLIS2,84662,16,4386971,4386971,Missense_Mutation,SNP,G,A,c.(1021-1023)Gcc>Acc,9,339,0,92
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NAGPA,51172,16,5078096,5078096,Silent,SNP,G,A,c.(1009-1011)caC>caT,11,925,0,166
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C16orf89,146556,16,5094809,5094809,Silent,SNP,T,C,c.(982-984)gtA>gtG,7,186,0,33
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PDXDC1,23042,16,15221662,15221662,Intron,SNP,G,A,,10,1393,0,400
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ABCC1,4363,16,16219674,16219674,Missense_Mutation,SNP,C,T,c.(3724-3726)aCg>aTg,5,73,0,39
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,HS3ST2,9956,16,22926427,22926427,Silent,SNP,G,A,c.(646-648)acG>acA,53,187,0,112
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SCNN1B,6338,16,23366809,23366809,Splice_Site,SNP,C,T,c.(775-777)Cgg>Tgg,7,472,0,147
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SCNN1B,6338,16,23391835,23391835,Missense_Mutation,SNP,G,A,c.(1636-1638)Gac>Aac,10,454,0,155
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PRKCB,5579,16,23847560,23847560,Missense_Mutation,SNP,C,T,c.(64-66)Cgc>Tgc,8,737,0,170
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GTF3C1,2975,16,27518484,27518484,Intron,SNP,G,A,,4,21,0,26
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TBX6,6911,16,30098141,30098141,Missense_Mutation,SNP,G,A,c.(871-873)Cgg>Tgg,7,319,0,91
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SRCAP,10847,16,30715435,30715435,Silent,SNP,C,T,c.(103-105)tcC>tcT,6,190,0,52
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FUS,2521,16,31204451,31204451,IGR,SNP,C,T,,6,51,0,33
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FUS,2521,16,31205922,31205922,IGR,SNP,G,A,,4,36,0,28
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF843,283933,16,31448083,31448083,Missense_Mutation,SNP,G,A,c.(88-90)Cgt>Tgt,8,349,0,78
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,Unknown,0,16,31985551,31985551,IGR,SNP,T,A,,4,17,0,13
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ADCY7,113,16,50323222,50323222,Intron,SNP,C,T,,5,74,0,33
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NUP93,9688,16,56876516,56876516,Intron,SNP,A,G,,11,234,0,64
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GPR97,222487,16,57714439,57714439,Missense_Mutation,SNP,C,T,c.(790-792)aCg>aTg,6,140,0,58
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,KATNB1,10300,16,57778357,57778357,Missense_Mutation,SNP,G,A,c.(223-225)Gag>Aag,8,564,0,128
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C16orf80,0,16,58148821,58148821,Missense_Mutation,SNP,G,A,c.(469-471)Cat>Tat,5,109,1,52
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CDH5,1003,16,66434844,66434844,Missense_Mutation,SNP,G,A,c.(1762-1764)Gag>Aag,11,981,0,271
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AGRP,181,16,67516703,67516703,Missense_Mutation,SNP,G,A,c.(235-237)Cgc>Tgc,11,311,0,76
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NRN1L,123904,16,67920009,67920009,Silent,SNP,C,T,c.(343-345)tgC>tgT,11,1316,0,207
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,VAC14,55697,16,70802752,70802752,Intron,SNP,A,G,,4,129,0,38
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CHST6,4166,16,75512803,75512803,Silent,SNP,G,A,c.(922-924)caC>caT,15,1075,0,368
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CHST6,4166,16,75512874,75512874,Missense_Mutation,SNP,G,A,c.(853-855)Cgt>Tgt,14,1208,0,310
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CHST5,23563,16,75563902,75563902,Silent,SNP,G,A,c.(379-381)gaC>gaT,8,388,0,118
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CNTNAP4,85445,16,76482814,76482814,Missense_Mutation,SNP,G,A,c.(901-903)cGg>cAg,16,72,0,87
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MBTPS1,8720,16,84125393,84125393,Missense_Mutation,SNP,C,T,c.(907-909)Gtg>Atg,6,183,0,74
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GSE1,23199,16,85690160,85690160,Missense_Mutation,SNP,G,A,c.(1201-1203)Gcc>Acc,8,756,0,145
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,JPH3,57338,16,87678128,87678128,Missense_Mutation,SNP,G,A,c.(646-648)cGg>cAg,9,810,0,218
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF469,84627,16,88496474,88496474,Missense_Mutation,SNP,G,A,c.(2596-2598)Gac>Aac,10,591,0,237
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CBFA2T3,863,16,89016964,89016964,Intron,SNP,G,A,,7,452,0,324
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CDH15,1013,16,89262605,89262605,IGR,SNP,G,A,,8,486,0,115
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NXN,64359,17,708321,708321,Silent,SNP,G,A,c.(985-987)ctC>ctT,10,976,0,155
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MYO1C,4641,17,1378233,1378233,Splice_Site,SNP,G,A,c.(1561-1563)acC>acT,8,671,0,190
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RPA1,6117,17,1775813,1775813,Silent,SNP,G,A,c.(445-447)tcG>tcA,11,844,0,117
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,P2RX1,5023,17,3802294,3802294,Silent,SNP,G,A,c.(898-900)aaC>aaT,7,322,0,129
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SPNS2,124976,17,4437133,4437133,Silent,SNP,T,C,c.(1327-1329)acT>acC,58,300,0,118
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GGT6,124975,17,4461954,4461954,Missense_Mutation,SNP,C,T,c.(838-840)Gga>Aga,4,66,0,23
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MINK1,50488,17,4793024,4793024,Missense_Mutation,SNP,G,A,c.(1312-1314)cGg>cAg,7,475,0,121
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ENO3,2027,17,4856098,4856098,Nonsense_Mutation,SNP,C,T,c.(94-96)Cga>Tga,7,355,0,140
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,KDM6B,23135,17,7751665,7751665,Missense_Mutation,SNP,G,A,c.(2059-2061)Gaa>Aaa,11,592,0,230
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CHD3,1107,17,7806641,7806641,Missense_Mutation,SNP,C,T,c.(3547-3549)Cgg>Tgg,6,276,0,106
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ALOXE3,59344,17,8012529,8012529,Nonsense_Mutation,SNP,G,A,c.(1525-1527)Cga>Tga,10,586,0,190
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RANGRF,29098,17,8192781,8192781,Intron,SNP,G,A,,7,371,0,168
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PIK3R5,23533,17,8791904,8791904,Silent,SNP,G,A,c.(1198-1200)tcC>tcT,4,42,0,28
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RCVRN,5957,17,9801510,9801510,Nonsense_Mutation,SNP,C,A,c.(505-507)Gag>Tag,16,59,0,42
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RAI1,10743,17,17697667,17697667,Missense_Mutation,SNP,G,A,c.(1405-1407)Gtg>Atg,8,612,0,210
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SREBF1,6720,17,17717007,17717007,Missense_Mutation,SNP,G,A,c.(2977-2979)cCg>cTg,9,592,0,164
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FLII,2314,17,18155406,18155406,Missense_Mutation,SNP,G,A,c.(1153-1155)Cgt>Tgt,9,775,0,122
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,VTN,7448,17,26695998,26695998,Nonsense_Mutation,SNP,G,A,c.(721-723)Cga>Tga,7,114,0,53
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RPL23A,6147,17,27050713,27050713,Intron,SNP,C,T,,14,103,0,65
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,EFCAB5,374786,17,28381129,28381129,Silent,SNP,G,A,c.(2155-2157)gaG>gaA,4,7,0,9
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NLE1,54475,17,33461962,33461962,Intron,SNP,C,T,,5,47,0,19
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLFN5,162394,17,33585967,33585967,Missense_Mutation,SNP,A,C,c.(256-258)ttA>ttC,29,64,0,56
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RARA,5914,17,38487529,38487529,Missense_Mutation,SNP,C,T,c.(58-60)cCg>cTg,7,243,0,51
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RARA,5914,17,38508209,38508209,Missense_Mutation,SNP,G,A,c.(517-519)Gag>Aag,8,421,0,106
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,KLHL10,317719,17,40004484,40004484,Silent,SNP,A,G,c.(1750-1752)agA>agG,4,26,0,24
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CNTNAP1,8506,17,40837286,40837286,Missense_Mutation,SNP,C,T,c.(562-564)cCg>cTg,9,530,0,94
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CNTNAP1,8506,17,40839818,40839818,Silent,SNP,C,T,c.(1123-1125)ccC>ccT,8,634,0,139
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,WNK4,65266,17,40945893,40945893,Intron,SNP,T,C,,11,174,0,39
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,WNK4,65266,17,40945909,40945909,Intron,SNP,C,T,,7,131,0,33
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AARSD1,80755,17,41114261,41114261,Intron,SNP,A,G,,5,195,0,25
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ASB16,92591,17,42248283,42248283,Silent,SNP,G,A,c.(124-126)ccG>ccA,8,663,0,123
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ASB16,92591,17,42255661,42255661,Missense_Mutation,SNP,G,A,c.(1264-1266)cGg>cAg,12,885,0,187
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TMUB2,79089,17,42271759,42271759,IGR,SNP,G,A,,6,140,0,55
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,EPN3,55040,17,48614119,48614119,Missense_Mutation,SNP,G,A,c.(202-204)Ggc>Agc,9,581,0,107
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SPAG9,9043,17,49042149,49042149,3'UTR,SNP,C,T,,5,147,0,20
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,KIF2B,84643,17,51900393,51900393,5'UTR,SNP,C,T,,5,19,0,21
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TBX2,6909,17,59485455,59485455,Missense_Mutation,SNP,C,T,c.(1726-1728)cCc>cTc,6,176,0,45
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SMARCD2,6603,17,61911557,61911557,Silent,SNP,C,T,c.(1051-1053)gaG>gaA,8,360,0,62
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SDK2,54549,17,71391293,71391293,Splice_Site,SNP,C,T,c.e25+1,6,141,0,81
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TSEN54,283989,17,73518267,73518267,Missense_Mutation,SNP,G,A,c.(1105-1107)Gat>Aat,5,124,0,29
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RECQL5,9400,17,73627718,73627718,Silent,SNP,G,A,c.(1258-1260)ttC>ttT,12,861,0,158
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TRIM65,201292,17,73887390,73887390,Missense_Mutation,SNP,G,A,c.(1024-1026)Cgt>Tgt,12,867,0,163
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,USP36,57602,17,76802380,76802380,Intron,SNP,G,A,,10,336,0,81
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CCDC40,55036,17,78064006,78064006,Intron,SNP,G,A,,13,1873,0,290
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GAA,2548,17,78081607,78081607,Silent,SNP,G,A,c.(865-867)gcG>gcA,12,1029,0,201
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GAA,2548,17,78090896,78090896,Silent,SNP,C,T,c.(2317-2319)taC>taT,7,409,0,129
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SGSH,6448,17,78184520,78184520,Missense_Mutation,SNP,G,A,c.(1240-1242)Cgc>Tgc,9,975,0,259
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,BAIAP2-AS1,440465,17,79004872,79004872,lincRNA,SNP,G,A,,11,685,0,159
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AATK,9625,17,79104950,79104950,Missense_Mutation,SNP,G,A,c.(244-246)cCg>cTg,8,778,0,115
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ENTHD2,146705,17,79206278,79206278,Intron,SNP,G,A,,9,659,0,105
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FSCN2,25794,17,79495780,79495780,Missense_Mutation,SNP,G,A,c.(223-225)Ggg>Agg,11,1179,0,231
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PCYT2,5833,17,79865456,79865456,Missense_Mutation,SNP,G,A,c.(511-513)Cgg>Tgg,9,654,1,117
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MAFG,4097,17,79880581,79880581,Missense_Mutation,SNP,C,T,c.(388-390)cGg>cAg,6,223,0,41
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FASN,2194,17,80039041,80039041,Splice_Site,SNP,G,A,c.(6592-6594)agC>agT,12,1431,0,218
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FASN,2194,17,80039168,80039168,Missense_Mutation,SNP,G,A,c.(6466-6468)tCg>tTg,9,510,0,105
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CCDC57,284001,17,80065459,80065459,Intron,SNP,G,A,,10,545,0,116
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CSNK1D,1453,17,80207468,80207468,Missense_Mutation,SNP,C,T,c.(895-897)cGg>cAg,28,1709,0,203
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LINC00470,56651,18,1275974,1275974,lincRNA,SNP,C,T,,4,31,0,35
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LAMA1,284217,18,7036056,7036056,Missense_Mutation,SNP,G,A,c.(1768-1770)aCg>aTg,7,176,0,99
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CABLES1,91768,18,20833815,20833815,Missense_Mutation,SNP,G,A,c.(1675-1677)cGg>cAg,9,349,0,138
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DSG3,1830,18,29039945,29039945,Missense_Mutation,SNP,C,T,c.(655-657)Cgt>Tgt,4,45,0,35
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RPL17,6139,18,47016824,47016824,Splice_Site,SNP,C,T,c.(313-315)aaG>aaA,5,77,0,33
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TCF4,6925,18,53298559,53298559,Missense_Mutation,SNP,T,C,c.(256-258)Acc>Gcc,4,66,0,19
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RP11-35G9.5,0,18,55309203,55309203,RNA,SNP,T,G,,8,294,0,61
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PHLPP1,23239,18,60630662,60630662,Missense_Mutation,SNP,G,A,c.(3517-3519)Gta>Ata,6,119,0,39
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF236,7776,18,74625804,74625804,Missense_Mutation,SNP,G,T,c.(3004-3006)cGc>cTc,20,140,0,83
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ATP9B,374868,18,76829427,76829427,Missense_Mutation,SNP,C,T,c.(16-18)cCg>cTg,6,102,0,31
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CDC34,997,19,541481,541481,Missense_Mutation,SNP,G,A,c.(640-642)Ggc>Agc,8,333,0,54
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,BSG,682,19,581516,581516,Missense_Mutation,SNP,G,A,c.(994-996)Gtg>Atg,11,1048,0,130
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PRSS57,400668,19,687011,687011,Missense_Mutation,SNP,C,T,c.(559-561)Gtc>Atc,15,692,0,139
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MED16,10025,19,868504,868504,Intron,SNP,G,A,,9,787,0,130
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MED16,10025,19,886136,886136,Silent,SNP,G,A,c.(511-513)ttC>ttT,8,295,0,39
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SBNO2,22904,19,1108890,1108890,Silent,SNP,G,A,c.(3502-3504)tgC>tgT,12,1150,0,143
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MBD3,53615,19,1575265,1575265,IGR,SNP,T,C,,9,123,0,20
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MBD3,53615,19,1585131,1585131,Missense_Mutation,SNP,G,A,c.(193-195)Cgc>Tgc,13,1336,0,194
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ATP8B3,148229,19,1799778,1799778,Intron,SNP,A,T,,4,16,0,20
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,REXO1,57455,19,1827216,1827216,Silent,SNP,G,A,c.(1570-1572)gaC>gaT,10,618,0,107
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ADAT3,113179,19,1912949,1912949,Silent,SNP,C,T,c.(853-855)taC>taT,11,1370,0,218
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CSNK1G2,1455,19,1979390,1979390,Missense_Mutation,SNP,G,A,c.(841-843)Gag>Aag,10,542,0,106
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AP3D1,8943,19,2120913,2120913,Missense_Mutation,SNP,C,T,c.(1429-1431)Ggg>Agg,9,661,0,100
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DOT1L,84444,19,2216608,2216608,Missense_Mutation,SNP,C,T,c.(2251-2253)aCc>aTc,14,899,0,142
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DOT1L,84444,19,2222475,2222475,Missense_Mutation,SNP,G,A,c.(3307-3309)Gtg>Atg,9,571,0,80
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LSM7,51690,19,2321797,2321797,Missense_Mutation,SNP,G,A,c.(193-195)aCg>aTg,31,163,0,27
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LMNB2,84823,19,2434067,2434067,Silent,SNP,G,A,c.(1177-1179)acC>acT,7,383,0,84
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LMNB2,84823,19,2435098,2435098,Silent,SNP,G,A,c.(694-696)taC>taT,13,940,0,160
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DOHH,83475,19,3496711,3496711,Silent,SNP,G,A,c.(100-102)ctC>ctT,12,1061,0,180
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,HMG20B,10362,19,3578081,3578081,Missense_Mutation,SNP,G,A,c.(910-912)cGc>cAc,7,472,0,81
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PIP5K1C,23396,19,3643278,3643278,Missense_Mutation,SNP,G,A,c.(1612-1614)Cgg>Tgg,10,834,0,157
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,STAP2,55620,19,4324496,4324496,Missense_Mutation,SNP,C,T,c.(1102-1104)aGg>aAg,6,146,0,40
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SEMA6B,10501,19,4552538,4552538,Silent,SNP,G,A,c.(883-885)ccC>ccT,8,700,0,141
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DPP9,91039,19,4689682,4689682,Missense_Mutation,SNP,G,A,c.(1561-1563)aCg>aTg,9,510,0,89
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,UHRF1,29128,19,4960720,4960720,RNA,SNP,G,A,,8,507,0,147
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SAFB2,9667,19,5593945,5593945,Missense_Mutation,SNP,C,T,c.(2164-2166)Gag>Aag,8,254,0,76
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SAFB,6294,19,5623371,5623371,Missense_Mutation,SNP,G,A,c.(154-156)gGc>gAc,7,268,0,128
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RPL36,25873,19,5685315,5685315,Intron,SNP,A,G,,5,218,0,64
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LONP1,9361,19,5711811,5711811,Missense_Mutation,SNP,C,T,c.(841-843)Gag>Aag,7,266,0,78
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DUS3L,56931,19,5790134,5790134,Missense_Mutation,SNP,C,T,c.(310-312)cGg>cAg,10,854,0,132
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NDUFA11,126328,19,5893211,5893211,IGR,SNP,A,G,,10,218,1,76
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,KHSRP,8570,19,6418029,6418029,Missense_Mutation,SNP,C,T,c.(940-942)cGg>cAg,8,498,0,121
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C3,718,19,6697466,6697466,Silent,SNP,G,A,c.(2683-2685)tcC>tcT,9,439,0,244
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,INSR,3643,19,7184388,7184388,Missense_Mutation,SNP,C,T,c.(913-915)Gtc>Atc,8,340,0,92
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PNPLA6,10908,19,7605117,7605117,Missense_Mutation,SNP,G,A,c.(520-522)Gtc>Atc,7,441,0,115
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CD209,30835,19,7809904,7809904,Missense_Mutation,SNP,G,A,c.(823-825)Cgg>Tgg,33,125,0,81
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DNMT1,1786,19,10259653,10259653,Missense_Mutation,SNP,C,T,c.(2578-2580)gGg>gAg,7,363,0,153
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MRPL4,51073,19,10370389,10370389,Missense_Mutation,SNP,G,A,c.(835-837)cGt>cAt,8,587,0,138
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SMARCA4,6597,19,11134267,11134267,Missense_Mutation,SNP,G,A,c.(2932-2934)cGa>cAa,9,769,0,167
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SMARCA4,6597,19,11145694,11145694,Silent,SNP,G,A,c.(4054-4056)gcG>gcA,10,893,0,203
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LDLR,3949,19,11224382,11224382,Silent,SNP,G,A,c.(1528-1530)acG>acA,8,346,0,110
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DOCK6,57572,19,11312726,11312726,Missense_Mutation,SNP,G,A,c.(5527-5529)Cgc>Tgc,9,801,0,156
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PRKCSH,5589,19,11556289,11556289,Splice_Site,SNP,G,A,c.e7+1,8,725,0,158
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MAN2B1,4125,19,12775740,12775740,Missense_Mutation,SNP,C,T,c.(496-498)Ggt>Agt,10,870,0,171
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DHPS,1725,19,12791909,12791909,Intron,SNP,A,G,,6,157,0,28
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DAND5,199699,19,13084393,13084393,Missense_Mutation,SNP,G,A,c.(514-516)cGg>cAg,6,287,0,71
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CYP4F8,11283,19,15739367,15739367,RNA,SNP,G,A,,7,59,0,41
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MED26,9441,19,16688223,16688223,Missense_Mutation,SNP,G,A,c.(418-420)Cgg>Tgg,6,352,0,59
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,F2RL3,9002,19,17001398,17001398,Missense_Mutation,SNP,G,A,c.(1123-1125)cGg>cAg,7,243,0,66
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CPAMD8,27151,19,17006643,17006643,Intron,SNP,C,T,,5,117,0,20
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,COLGALT1,79709,19,17692149,17692149,Missense_Mutation,SNP,G,A,c.(1765-1767)Gcc>Acc,9,658,0,136
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,KCNN1,3780,19,18092642,18092642,Missense_Mutation,SNP,C,T,c.(622-624)aCg>aTg,8,692,0,115
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MAST3,23031,19,18255992,18255992,Missense_Mutation,SNP,G,A,c.(2905-2907)Gtc>Atc,11,686,0,121
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PIK3R2,5296,19,18266816,18266816,Missense_Mutation,SNP,G,A,c.(127-129)Gtg>Atg,12,1111,0,160
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ELL,8178,19,18561352,18561352,Missense_Mutation,SNP,C,T,c.(1399-1401)cGg>cAg,8,409,0,80
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,HAPLN4,404037,19,19372309,19372309,Missense_Mutation,SNP,G,A,c.(67-69)Ctc>Ttc,9,648,0,138
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF493,284443,19,21606999,21606999,Missense_Mutation,SNP,G,A,c.(1153-1155)gGa>gAa,6,102,1,52
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF724P,440519,19,23405868,23405868,Silent,SNP,T,G,c.(1177-1179)ccA>ccC,4,59,0,69
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF91,7644,19,23542635,23542635,Missense_Mutation,SNP,G,C,c.(3145-3147)cCt>cGt,4,62,0,59
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF254,9534,19,24310209,24310209,Silent,SNP,G,A,c.(1405-1407)aaG>aaA,7,94,0,85
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CHST8,64377,19,34263071,34263071,Silent,SNP,G,A,c.(376-378)ccG>ccA,8,275,0,65
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AC002511.1,0,19,35899127,35899127,lincRNA,SNP,G,A,,5,15,0,10
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,UPK1A,11045,19,36167146,36167146,Intron,SNP,A,G,,8,125,0,23
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF850,342892,19,37240341,37240341,Missense_Mutation,SNP,T,C,c.(1600-1602)cAt>cGt,4,114,1,76
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF850,342892,19,37240760,37240760,Silent,SNP,A,G,c.(1180-1182)gaT>gaC,5,70,0,68
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF571,51276,19,38055597,38055597,Missense_Mutation,SNP,C,T,c.(1732-1734)aGg>aAg,4,62,0,32
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZFP30,22835,19,38126730,38126730,Missense_Mutation,SNP,C,G,c.(712-714)Ggt>Cgt,11,36,0,58
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RYR1,6261,19,38951199,38951199,Missense_Mutation,SNP,G,A,c.(2545-2547)Gac>Aac,7,396,0,140
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RYR1,6261,19,38983263,38983263,Silent,SNP,G,A,c.(6259-6261)gaG>gaA,6,177,0,95
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RYR1,6261,19,39016117,39016117,Missense_Mutation,SNP,C,T,c.(10600-10602)aCg>aTg,9,906,0,199
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,HIPK4,147746,19,40895777,40895777,Silent,SNP,G,A,c.(31-33)taC>taT,6,151,0,44
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ADCK4,79934,19,41209620,41209620,Splice_Site,SNP,C,T,c.(715-717)caG>caA,10,449,0,116
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,BCKDHA,593,19,41924703,41924703,Intron,SNP,T,C,,8,146,0,19
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,POU2F2,5452,19,42599545,42599545,Missense_Mutation,SNP,G,A,c.(1024-1026)Cgc>Tgc,8,735,0,108
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LIPE,3991,19,42928598,42928598,Intron,SNP,G,A,,9,616,0,115
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ETHE1,23474,19,44030656,44030656,Intron,SNP,C,T,,7,441,0,176
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF575,284346,19,44039287,44039287,Silent,SNP,G,A,c.(184-186)ccG>ccA,7,304,0,73
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,KCNN4,3783,19,44278573,44278573,Silent,SNP,G,A,c.(454-456)Ctg>Ttg,13,565,0,103
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,BCAM,4059,19,45315590,45315590,Silent,SNP,C,T,c.(373-375)tgC>tgT,7,151,0,38
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PPP1R37,284352,19,45648263,45648263,Intron,SNP,G,A,,7,271,0,62
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MARK4,57787,19,45805655,45805655,Missense_Mutation,SNP,C,T,c.(1945-1947)aCg>aTg,11,617,1,127
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ERCC2,2068,19,45855918,45855918,Intron,SNP,G,A,,7,428,0,185
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PPP1R13L,10848,19,45901354,45901354,Missense_Mutation,SNP,G,A,c.(106-108)gCg>gTg,9,484,0,71
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RTN2,6253,19,45997558,45997558,Missense_Mutation,SNP,G,A,c.(679-681)tCg>tTg,11,622,0,150
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FBXO46,23403,19,46215401,46215401,Silent,SNP,G,A,c.(1351-1353)caC>caT,10,523,0,98
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DMPK,1760,19,46280785,46280785,Missense_Mutation,SNP,G,A,c.(946-948)Cgg>Tgg,10,515,0,75
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FAM83E,54854,19,49116448,49116448,Missense_Mutation,SNP,G,A,c.(181-183)gCg>gTg,9,885,0,199
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FUT1,2523,19,49253975,49253975,Silent,SNP,G,A,c.(562-564)caC>caT,15,994,0,215
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,BAX,581,19,49463519,49463519,Intron,SNP,G,C,,9,363,0,40
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,BAX,581,19,49463536,49463536,Intron,SNP,T,C,,9,313,0,35
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TRPM4,54795,19,49703644,49703644,Silent,SNP,G,A,c.(2731-2733)acG>acA,9,331,0,114
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FCGRT,2217,19,50017434,50017434,Intron,SNP,C,T,,4,39,0,35
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PRMT1,3276,19,50188072,50188072,Missense_Mutation,SNP,G,A,c.(562-564)cGg>cAg,7,459,0,94
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PNKP,11284,19,50367635,50367635,Missense_Mutation,SNP,G,A,c.(523-525)aCg>aTg,11,793,0,188
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,EMC10,284361,19,50985478,50985478,Missense_Mutation,SNP,G,A,c.(751-753)Ggt>Agt,4,15,0,32
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF614,80110,19,52516429,52516429,IGR,SNP,G,A,,9,117,0,26
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF614,80110,19,52516457,52516457,IGR,SNP,T,C,,7,65,0,18
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF480,147657,19,52817070,52817070,Intron,SNP,G,A,,10,131,0,25
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF880,400713,19,52882774,52882774,Intron,SNP,C,A,,5,123,0,22
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF880,400713,19,52882782,52882782,Intron,SNP,A,G,,6,95,0,22
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,VN1R2,317701,19,53761696,53761696,Missense_Mutation,SNP,T,C,c.(67-69)tTg>tCg,4,90,1,48
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CACNG8,59283,19,54485519,54485519,Missense_Mutation,SNP,C,A,c.(694-696)Cgc>Agc,556,958,0,360
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MBOAT7,79143,19,54682561,54682561,Missense_Mutation,SNP,G,A,c.(952-954)Cgg>Tgg,11,767,0,156
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LILRA4,23547,19,54849738,54849738,Missense_Mutation,SNP,C,T,c.(283-285)cGa>cAa,6,171,0,90
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LENG8,114823,19,54969014,54969014,Missense_Mutation,SNP,G,A,c.(1819-1821)cGg>cAg,7,525,0,91
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,EPS8L1,54869,19,55594940,55594940,Intron,SNP,G,A,,8,463,0,92
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TNNI3,7137,19,55668447,55668447,Missense_Mutation,SNP,G,A,c.(79-81)Cgc>Tgc,10,676,0,172
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SBK2,646643,19,56042651,56042651,Silent,SNP,G,A,c.(313-315)taC>taT,11,874,0,194
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF579,163033,19,56090402,56090402,Missense_Mutation,SNP,C,T,c.(604-606)Ggg>Agg,8,426,0,119
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,EPN1,29924,19,56196867,56196867,Missense_Mutation,SNP,G,A,c.(334-336)Gtg>Atg,14,1628,0,234
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF71,58491,19,57133512,57133512,Missense_Mutation,SNP,C,T,c.(856-858)aCc>aTc,5,265,1,64
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF776,284309,19,58265792,58265792,Missense_Mutation,SNP,T,C,c.(1294-1296)Tat>Cat,5,102,1,75
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZNF497,162968,19,58868149,58868149,Missense_Mutation,SNP,G,A,c.(853-855)Cgt>Tgt,9,421,0,69
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RPS5,6193,19,58908374,58908374,IGR,SNP,G,A,,13,522,0,117
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TMC2,117532,20,2597815,2597815,Missense_Mutation,SNP,G,A,c.(2038-2040)Gta>Ata,8,497,0,163
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC4A11,83959,20,3210868,3210868,Missense_Mutation,SNP,G,A,c.(1501-1503)aCg>aTg,11,735,0,193
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ATRN,8455,20,3596494,3596494,Intron,SNP,G,A,,9,211,0,83
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ATRN,8455,20,3596497,3596497,Intron,SNP,G,A,,8,207,0,84
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MKKS,8195,20,10393747,10393747,Missense_Mutation,SNP,C,T,c.(415-417)cGa>cAa,5,72,0,76
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RALGAPA2,57186,20,20392774,20392774,Silent,SNP,C,A,c.(5512-5514)ctG>ctT,25,120,0,54
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,XRN2,22803,20,21346294,21346294,Missense_Mutation,SNP,G,A,c.(2407-2409)cGt>cAt,6,161,1,69
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GGTLC1,92086,20,23967154,23967154,Missense_Mutation,SNP,G,A,c.(94-96)cCg>cTg,10,1101,0,275
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PYGB,5834,20,25257335,25257335,Silent,SNP,C,T,c.(712-714)acC>acT,8,529,0,105
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TPX2,22974,20,30368784,30368784,Intron,SNP,G,A,,7,113,0,25
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CCM2L,140706,20,30602699,30602699,Intron,SNP,C,T,,5,142,0,28
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ASIP,434,20,32856951,32856951,Missense_Mutation,SNP,G,A,c.(376-378)cGc>cAc,8,474,0,103
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AAR2,25980,20,34858561,34858561,Missense_Mutation,SNP,G,A,c.(1093-1095)aGa>aAa,7,181,0,44
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SRC,6714,20,36031618,36031618,Missense_Mutation,SNP,C,T,c.(1447-1449)Cgg>Tgg,6,234,0,62
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,BPI,671,20,36932707,36932707,Missense_Mutation,SNP,G,A,c.(94-96)Gtc>Atc,10,882,0,162
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PLCG1,5335,20,39803124,39803124,Missense_Mutation,SNP,G,A,c.(3847-3849)cGg>cAg,16,200,0,58
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GDAP1L1,78997,20,42891911,42891911,Missense_Mutation,SNP,C,T,c.(589-591)Cat>Tat,6,159,0,71
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PLTP,5360,20,44530959,44530959,Silent,SNP,G,A,c.(1120-1122)agC>agT,12,824,0,192
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ELMO2,63916,20,45010844,45010844,Intron,SNP,C,T,,7,208,0,90
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC2A10,81031,20,45358127,45358127,Splice_Site,SNP,G,A,c.(1546-1548)cGg>cAg,8,304,1,151
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC9A8,23315,20,48439630,48439630,Nonsense_Mutation,SNP,C,T,c.(241-243)Cga>Tga,4,68,1,39
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NFATC2,4773,20,50048845,50048845,Missense_Mutation,SNP,C,G,c.(2479-2481)gaG>gaC,31,200,0,55
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,BCAS1,8537,20,52609051,52609051,Intron,SNP,C,T,,5,79,0,29
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RBM38,55544,20,55967832,55967832,Splice_Site,SNP,G,A,c.(358-360)acG>acA,7,326,0,55
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GNAS,2778,20,57428500,57428500,Silent,SNP,C,T,c.(178-180)ccC>ccT,8,580,0,121
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GNAS,2778,20,57484585,57484585,Silent,SNP,C,T,c.(667-669)gaC>gaT,10,786,1,247
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ARFGAP1,55738,20,61910643,61910643,Intron,SNP,T,C,,6,103,0,25
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ARFGAP1,55738,20,61919740,61919740,3'UTR,SNP,C,T,,9,918,0,112
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CHRNA4,1137,20,61987340,61987340,Missense_Mutation,SNP,C,T,c.(370-372)Gtc>Atc,9,635,0,145
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,BAGE2,85319,21,11098693,11098693,RNA,SNP,G,A,,71,922,1,262
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,C21orf37,100505929,21,18816429,18816429,Missense_Mutation,SNP,A,G,c.(91-93)tAc>tGc,8,146,0,33
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,BTG3,10950,21,18976490,18976490,Intron,SNP,A,G,,5,75,0,12
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TMPRSS15,5651,21,19704493,19704493,Intron,SNP,G,A,,5,117,1,68
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SON,6651,21,34925708,34925708,Missense_Mutation,SNP,G,A,c.(4171-4173)Gtc>Atc,6,188,0,85
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PSMG1,8624,21,40555207,40555207,Silent,SNP,C,T,c.(103-105)agG>agA,5,151,0,43
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TMPRSS3,64699,21,43792471,43792471,3'UTR,SNP,G,C,,9,336,0,61
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AIRE,326,21,45713777,45713777,Missense_Mutation,SNP,G,A,c.(1384-1386)Ggc>Agc,9,950,0,199
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PFKL,5211,21,45736223,45736223,Splice_Site,SNP,G,A,c.e8+1,7,463,0,81
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SUMO3,6612,21,46228320,46228320,Missense_Mutation,SNP,T,C,c.(385-387)cAa>cGa,7,110,0,16
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ITGB2,3689,21,46308647,46308647,Missense_Mutation,SNP,C,T,c.(2041-2043)Ggg>Agg,10,797,0,204
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,POFUT2,23275,21,46687549,46687549,Silent,SNP,G,A,c.(1090-1092)gaC>gaT,11,852,0,141
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,COL18A1,80781,21,46876107,46876107,Silent,SNP,C,T,c.(661-663)tcC>tcT,6,135,0,29
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,COL18A1,80781,21,46930089,46930089,Missense_Mutation,SNP,C,T,c.(4852-4854)Cgc>Tgc,8,559,1,121
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,LSS,4047,21,47612668,47612668,Intron,SNP,G,A,,22,349,1,240
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PCNT,5116,21,47811218,47811218,Silent,SNP,G,A,c.(4141-4143)gcG>gcA,12,798,0,121
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PCNT,5116,21,47811238,47811238,Missense_Mutation,SNP,G,A,c.(4162-4164)cGt>cAt,8,518,0,85
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,HIRA,7290,22,19373242,19373242,Silent,SNP,G,A,c.(1129-1131)tcC>tcT,7,243,0,84
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ARVCF,421,22,19968920,19968920,Missense_Mutation,SNP,G,A,c.(709-711)cCg>cTg,8,323,0,47
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,YPEL1,29799,22,22057666,22057666,Nonsense_Mutation,SNP,C,T,c.(262-264)tGg>tAg,6,248,0,48
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,BCR,613,22,23603710,23603710,Missense_Mutation,SNP,G,A,c.(1735-1737)Gac>Aac,12,575,0,105
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC2A11,66035,22,24225194,24225194,Intron,SNP,G,T,,9,41,0,29
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GGT5,2687,22,24616637,24616637,Intron,SNP,C,G,,6,380,1,84
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SPECC1L,23384,22,24739521,24739521,Intron,SNP,T,C,,6,126,0,20
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,NEFH,4744,22,29885188,29885188,Missense_Mutation,SNP,T,C,c.(1558-1560)gTa>gCa,4,70,2,80
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MTMR3,8897,22,30415611,30415611,Missense_Mutation,SNP,G,A,c.(1963-1965)Ggc>Agc,9,679,0,105
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RNF215,200312,22,30775776,30775776,Silent,SNP,G,A,c.(1033-1035)caC>caT,6,205,0,93
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC5A4,6527,22,32631019,32631019,Silent,SNP,G,A,c.(724-726)tcC>tcT,5,93,1,81
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SLC5A4,6527,22,32643489,32643489,Missense_Mutation,SNP,G,A,c.(385-387)cCg>cTg,6,198,0,73
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RBFOX2,23543,22,36218894,36218894,Intron,SNP,G,C,,5,192,0,17
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TRIOBP,11078,22,38161744,38161744,Missense_Mutation,SNP,G,A,c.(6391-6393)cGg>cAg,8,810,0,135
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,GCAT,23464,22,38204002,38204002,Missense_Mutation,SNP,G,A,c.(28-30)Gca>Aca,8,547,0,97
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,JOSD1,9929,22,39085107,39085107,Silent,SNP,G,A,c.(340-342)aaC>aaT,6,79,0,52
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,XPNPEP3,63929,22,41265068,41265068,Nonsense_Mutation,SNP,C,T,c.(130-132)Cga>Tga,5,124,0,65
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,L3MBTL2,83746,22,41604365,41604365,Intron,SNP,T,C,,6,179,0,25
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZC3H7B,23264,22,41752653,41752653,Missense_Mutation,SNP,G,A,c.(2521-2523)gGc>gAc,6,230,0,54
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SERHL2,253190,22,42959406,42959406,Intron,SNP,C,T,,8,144,0,21
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,SERHL2,253190,22,42959407,42959407,Intron,SNP,G,A,,13,144,0,20
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,POLDIP3,84271,22,42987961,42987961,Splice_Site,SNP,C,T,c.(1021-1023)Ggg>Agg,4,69,0,29
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CYB5R3,1727,22,43032860,43032860,Intron,SNP,G,A,,9,554,0,165
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,A4GALT,53947,22,43089340,43089340,Silent,SNP,G,A,c.(616-618)aaC>aaT,11,1047,0,224
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,BRD1,23774,22,50217173,50217173,Missense_Mutation,SNP,G,A,c.(793-795)Cgg>Tgg,4,20,0,20
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MOV10L1,54456,22,50581704,50581704,Intron,SNP,G,A,,5,138,0,49
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RPS6KA3,6197,X,20179856,20179856,Missense_Mutation,SNP,G,A,c.(1864-1866)cCt>cTt,3,12,0,14
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MAOB,4129,X,43741522,43741522,Silent,SNP,G,A,c.(22-24)gtC>gtT,8,405,0,48
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,RP2,6102,X,46713161,46713161,Missense_Mutation,SNP,G,A,c.(352-354)cGt>cAt,4,53,0,40
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MAGED1,9500,X,51638779,51638779,Missense_Mutation,SNP,G,A,c.(676-678)Gca>Aca,5,67,0,21
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,TSPYL2,64061,X,53112405,53112405,Missense_Mutation,SNP,G,A,c.(724-726)cGc>cAc,7,242,0,96
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,STARD8,9754,X,67937492,67937492,Missense_Mutation,SNP,C,T,c.(496-498)Cgc>Tgc,13,163,0,53
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CHIC1,53344,X,72804317,72804317,Missense_Mutation,SNP,C,T,c.(415-417)cCg>cTg,4,53,0,31
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,DRP2,1821,X,100503251,100503251,Missense_Mutation,SNP,C,A,c.(1426-1428)Ctc>Atc,4,50,0,35
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,XIAP,331,X,123047048,123047048,3'UTR,SNP,A,G,,5,110,0,40
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,XIAP,331,X,123047234,123047234,3'UTR,SNP,T,C,,4,38,0,9
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ZIC3,7547,X,136649240,136649240,Silent,SNP,G,A,c.(388-390)gcG>gcA,5,148,0,35
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,MTMR1,8776,X,149896171,149896171,Missense_Mutation,SNP,C,T,c.(439-441)Ctt>Ttt,7,58,0,30
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PLXNB3,5365,X,153041575,153041575,Silent,SNP,G,A,c.(4633-4635)acG>acA,6,196,0,40
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PLXNA3,55558,X,153691834,153691834,Missense_Mutation,SNP,G,A,c.(1417-1419)cGg>cAg,7,360,0,83
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FAM3A,60343,X,153740646,153740646,Intron,SNP,T,C,,5,85,0,13
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,FAM197Y1,100289265,Y,9384159,9384159,Intron,SNP,T,C,,5,175,0,54
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,HMCN1,83872,1,186008849,186008850,Intron,INS,-,T,,21,152,,
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,ABCF2,10061,7,150916068,150916069,Intron,INS,-,G,,0,18,,
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,VPS13A,23230,9,79966455,79966455,Intron,DEL,T,-,,5,8,,
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,PRDX3,10935,10,120938409,120938410,5'Flank,INS,-,AGT,,3,4,,
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CTNND1,1500,11,57569508,57569509,Frame_Shift_Ins,INS,-,A,c.(1261-1263)aaafs,25,99,,
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,AATK,9625,17,79095014,79095015,In_Frame_Ins,INS,-,GTCCAGGGA,c.(2719-2724)gacatc>gacTCCCTGGACatc,32,104,,
RP-1532_PCProject_0392_T2_v4_Exome_OnPrem,CYP4F8,11283,19,15729137,15729137,RNA,DEL,G,-,,18,62,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ATAD3B,83858,1,1418429,1418429,Intron,SNP,T,C,,11,445,0,169
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SSU72,29101,1,1480131,1480131,Intron,SNP,C,T,,5,129,0,72
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PADI3,51702,1,17596839,17596839,Missense_Mutation,SNP,C,G,c.(763-765)tCc>tGc,29,195,0,148
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PADI4,23569,1,17660989,17660989,Intron,SNP,A,G,,7,97,0,59
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NIPAL3,57185,1,24780577,24780577,Intron,SNP,T,C,,5,120,0,76
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SEPN1,57190,1,26128613,26128613,Intron,SNP,G,C,,5,67,0,28
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PDIK1L,149420,1,26448751,26448751,Missense_Mutation,SNP,A,C,c.(709-711)Aaa>Caa,7,91,0,173
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,BTBD19,149478,1,45278125,45278125,Intron,SNP,T,C,,8,303,1,140
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MAST2,23139,1,46501613,46501613,Missense_Mutation,SNP,C,T,c.(5272-5274)Cca>Tca,27,312,0,256
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DMRTA2,63950,1,50887126,50887126,Missense_Mutation,SNP,G,A,c.(82-84)tCg>tTg,13,125,0,72
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,EPS15,2060,1,51924298,51924298,Intron,SNP,C,A,,10,192,0,107
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CYB5RL,606495,1,54645736,54645736,Intron,SNP,T,C,,6,191,0,107
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TTC22,55001,1,55251232,55251232,Intron,SNP,T,C,,6,120,0,85
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,LRRC7,57554,1,70504107,70504107,Missense_Mutation,SNP,G,C,c.(2485-2487)aGa>aCa,5,102,0,140
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,HENMT1,113802,1,109191977,109191977,Intron,SNP,T,C,,9,405,0,188
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PTPN22,26191,1,114406895,114406895,Intron,SNP,T,C,,9,204,0,104
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RP11-337C18.8,0,1,146650903,146650903,RNA,SNP,C,G,,34,163,0,431
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MRPS21,54460,1,150273676,150273676,Intron,SNP,A,G,,6,71,0,32
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,IL6R,3570,1,154410001,154410001,Intron,SNP,C,T,,8,242,0,91
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,IL6R,3570,1,154410015,154410015,Intron,SNP,A,G,,9,184,0,78
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RFWD2,64326,1,176069424,176069424,Intron,SNP,G,C,,5,120,0,38
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CFHR2,3080,1,196887467,196887467,Intron,SNP,G,A,,15,67,0,163
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CNTN2,6900,1,205028799,205028799,Silent,SNP,C,T,c.(784-786)ttC>ttT,54,207,0,188
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C4BPB,725,1,207268762,207268762,Intron,SNP,A,G,,6,163,0,97
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CD55,1604,1,207513779,207513779,Intron,SNP,T,C,,5,91,0,92
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CD55,1604,1,207513846,207513846,Intron,SNP,T,G,,7,352,0,154
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SYT14,255928,1,210139298,210139298,Intron,SNP,T,C,,9,301,0,108
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PTPN14,5784,1,214557893,214557893,Silent,SNP,G,A,c.(1303-1305)atC>atT,7,281,0,182
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DISC1,27185,1,231990668,231990668,Missense_Mutation,SNP,A,G,c.(2164-2166)gAc>gGc,7,225,0,90
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,LCLAT1,253558,2,30829017,30829017,Intron,SNP,T,A,,4,15,0,57
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SLC30A6,55676,2,32402542,32402542,Intron,SNP,T,G,,6,75,0,22
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DYNC2LI1,51626,2,44002850,44002850,Intron,SNP,A,G,,7,126,0,31
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FAM161A,84140,2,62052972,62052972,3'UTR,SNP,T,C,,4,33,0,41
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FAM161A,84140,2,62074128,62074128,Intron,SNP,A,G,,6,93,0,50
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SFXN5,94097,2,73268729,73268729,Intron,SNP,A,G,,5,83,0,37
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TMEM131,23505,2,98418906,98418906,Missense_Mutation,SNP,T,C,c.(2635-2637)gAt>gGt,10,24,0,47
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PTPN18,26469,2,131119811,131119811,Intron,SNP,A,G,,9,44,0,74
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PTPN18,26469,2,131119812,131119812,Intron,SNP,A,G,,9,43,0,71
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,LRP1B,53353,2,141806753,141806753,Missense_Mutation,SNP,G,A,c.(1591-1593)Cgc>Tgc,4,39,0,106
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MMADHC,27249,2,150428761,150428761,Intron,SNP,A,G,,6,107,0,63
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,GALNT13,114805,2,155294172,155294172,Intron,SNP,T,G,,6,79,0,48
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,BAZ2B,29994,2,160269014,160269014,Missense_Mutation,SNP,G,A,c.(2509-2511)Cgt>Tgt,12,114,1,279
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MYO3B,140469,2,171381096,171381096,Intron,SNP,T,C,,5,64,1,50
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CTLA4,1493,2,204735359,204735359,Missense_Mutation,SNP,G,A,c.(160-162)Gcc>Acc,6,211,0,168
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ATIC,471,2,216213428,216213428,Intron,SNP,A,G,,4,42,0,33
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ABCB6,10058,2,220075123,220075123,Silent,SNP,G,A,c.(2329-2331)acC>acT,5,192,0,178
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,AP1S3,130340,2,224617542,224617542,Nonstop_Mutation,SNP,T,C,c.(493-495)tAg>tGg,9,237,0,64
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,Unknown,0,2,230889632,230889632,IGR,SNP,A,G,,6,152,0,21
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PSMD1,5707,2,232030701,232030701,Silent,SNP,G,A,c.(2683-2685)ccG>ccA,5,89,0,96
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NKTR,4820,3,42672733,42672733,Missense_Mutation,SNP,G,A,c.(475-477)Gat>Aat,8,91,0,164
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SETD2,29072,3,47147209,47147209,Intron,SNP,G,A,,8,120,0,63
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RHOA,387,3,49410738,49410738,Intron,SNP,T,C,,5,102,0,41
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PPP4R2,151987,3,73064075,73064075,Intron,SNP,G,A,,4,82,0,58
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ST3GAL6,10402,3,98482223,98482223,Intron,SNP,G,A,,5,129,0,224
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,HSPBAP1,79663,3,122471529,122471529,Intron,SNP,C,A,,11,56,0,79
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ADCY5,111,3,123019147,123019147,Intron,SNP,G,A,,6,224,0,87
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NPHP3,27031,3,132440870,132440870,Silent,SNP,C,T,c.(328-330)ttG>ttA,14,271,0,140
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,IL20RB,53833,3,136705588,136705588,Intron,SNP,A,G,,5,87,0,95
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ATR,545,3,142255044,142255044,Splice_Site,SNP,C,A,c.e20-1,4,75,0,98
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C3orf33,285315,3,155521897,155521897,Intron,SNP,A,G,,5,46,0,22
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PHC3,80012,3,169868458,169868458,Intron,SNP,G,A,,6,71,0,25
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PLD1,5337,3,171371980,171371980,Intron,SNP,A,C,,8,54,0,38
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,IGF2BP2,10644,3,185439913,185439913,Intron,SNP,T,G,,4,23,1,37
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ATP13A3,79572,3,194219513,194219513,5'Flank,SNP,C,T,,8,127,0,60
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,APOD,347,3,195304026,195304026,Intron,SNP,C,T,,7,257,0,79
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TM4SF19,116211,3,196046881,196046881,Intron,SNP,T,C,,4,47,0,19
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TM4SF19,116211,3,196046903,196046903,Intron,SNP,T,C,,7,56,0,27
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF141,7700,4,352071,352071,Intron,SNP,A,G,,5,77,0,38
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF141,7700,4,352094,352094,Intron,SNP,C,A,,5,58,0,32
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF721,170960,4,437132,437132,Missense_Mutation,SNP,G,T,c.(1087-1089)gCc>gAc,5,95,0,136
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TMEM175,84286,4,950333,950333,Intron,SNP,C,T,,5,124,0,79
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TMEM175,84286,4,950334,950334,Intron,SNP,A,G,,10,117,1,74
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CC2D2A,57545,4,15520972,15520972,Intron,SNP,T,C,,4,58,0,32
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RP11-431M7.3,0,4,36261544,36261544,RNA,SNP,T,C,,7,361,1,194
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,KIAA1239,0,4,37446710,37446710,Silent,SNP,T,C,c.(3100-3102)Ttg>Ctg,14,86,0,151
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C4orf19,55286,4,37462252,37462252,Intron,SNP,C,T,,8,150,0,141
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RELL1,768211,4,37624532,37624532,Intron,SNP,C,T,,6,137,0,67
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CNGA1,1259,4,47972910,47972910,Intron,SNP,C,T,,6,103,0,87
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PARM1,25849,4,75971438,75971438,Missense_Mutation,SNP,C,A,c.(913-915)cCt>cAt,5,99,0,100
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,THAP6,152815,4,76474821,76474821,Missense_Mutation,SNP,A,G,c.(250-252)Act>Gct,8,208,0,66
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ART3,419,4,77020252,77020252,Intron,SNP,T,C,,6,125,0,84
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ANTXR2,118429,4,80945822,80945822,Intron,SNP,A,G,,5,122,0,67
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,BANK1,55024,4,102946449,102946449,Silent,SNP,A,G,c.(1375-1377)ggA>ggG,6,189,0,217
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MANBA,4126,4,103675131,103675131,Intron,SNP,A,G,,11,272,1,110
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NR3C2,4306,4,149357562,149357562,Missense_Mutation,SNP,G,T,c.(451-453)Cct>Act,9,124,0,212
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,HAND2,9464,4,174450116,174450116,Missense_Mutation,SNP,G,A,c.(325-327)Cgg>Tgg,7,450,0,204
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RP11-487E13.1,0,4,178169375,178169375,Missense_Mutation,SNP,A,T,c.(58-60)Tgt>Agt,6,102,0,115
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SERF1B,728492,5,69325619,69325619,Intron,SNP,A,G,,8,376,1,307
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SERF1B,728492,5,69325679,69325679,Intron,SNP,C,T,,7,118,0,213
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SERF1B,728492,5,69325696,69325696,Intron,SNP,T,C,,5,78,0,169
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MCCC2,64087,5,70939696,70939696,Missense_Mutation,SNP,G,C,c.(1123-1125)Gtt>Ctt,8,86,0,226
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CHD1,1105,5,98217071,98217071,Missense_Mutation,SNP,G,A,c.(2875-2877)cCt>cTt,5,29,0,70
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PCDHB3,56132,5,140482620,140482620,Missense_Mutation,SNP,G,A,c.(2386-2388)aGt>aAt,4,42,0,63
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,GABRG2,2566,5,161529638,161529638,Intron,SNP,C,G,,7,317,0,158
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RARS,5917,5,167915266,167915266,Intron,SNP,A,G,,8,52,0,21
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ADAMTS2,9509,5,178578178,178578178,Intron,SNP,A,G,,4,57,0,25
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MCUR1,63933,6,13804311,13804311,Intron,SNP,A,G,,3,16,0,12
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MCUR1,63933,6,13804345,13804345,Intron,SNP,C,G,,4,33,0,20
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZFAND3,60685,6,37971462,37971462,Intron,SNP,T,A,,8,41,0,23
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PRPH2,5961,6,42689572,42689572,Silent,SNP,G,T,c.(499-501)ggC>ggA,20,248,0,291
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF318,24149,6,43309879,43309879,Missense_Mutation,SNP,C,T,c.(3346-3348)cGc>cAc,8,98,0,127
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CAPN11,11131,6,44136705,44136705,Intron,SNP,A,G,,7,305,0,93
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,GRIK2,2898,6,102192589,102192589,Intron,SNP,G,A,,4,35,0,9
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,REV3L,5980,6,111629323,111629323,Intron,SNP,C,A,,4,3,0,9
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TBC1D32,221322,6,121401456,121401456,IGR,SNP,C,T,,5,68,1,31
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SAMD3,154075,6,130504407,130504407,Intron,SNP,A,G,,6,99,0,50
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TAAR5,9038,6,132910125,132910125,Missense_Mutation,SNP,G,C,c.(700-702)aCc>aGc,5,67,0,150
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,Unknown,0,6,139085421,139085421,IGR,SNP,T,A,,5,151,0,54
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RP11-307P5.1,0,6,148050958,148050958,lincRNA,SNP,T,C,,9,319,0,135
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RP11-307P5.1,0,6,148051049,148051049,lincRNA,SNP,T,C,,5,70,0,67
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FTSJ2,29960,7,2278470,2278470,Splice_Site,SNP,T,C,c.(400-402)cAa>cGa,4,30,0,8
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FOXK1,221937,7,4794933,4794933,Missense_Mutation,SNP,C,A,c.(967-969)gaC>gaA,33,648,1,223
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,EIF2AK1,27102,7,6067599,6067599,Intron,SNP,T,C,,6,190,0,71
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF680,340252,7,63981928,63981928,Missense_Mutation,SNP,C,T,c.(1204-1206)Gga>Aga,5,107,1,221
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF117,51351,7,64438765,64438765,Missense_Mutation,SNP,C,A,c.(1183-1185)gGc>gTc,5,93,0,200
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RABGEF1,27342,7,66261850,66261850,3'UTR,SNP,A,T,,7,202,0,86
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,AKAP9,10142,7,91726195,91726195,Nonsense_Mutation,SNP,C,T,c.(9934-9936)Cga>Tga,17,167,0,274
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,BUD31,8896,7,99013796,99013796,Nonsense_Mutation,SNP,G,T,c.(130-132)Gaa>Taa,9,89,0,110
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CYP3A43,64816,7,99436340,99436340,Intron,SNP,C,T,,7,86,0,52
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CYP3A43,64816,7,99447658,99447658,Intron,SNP,A,C,,9,457,0,134
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CYP3A43,64816,7,99447679,99447679,Intron,SNP,G,A,,8,342,0,108
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MUC17,140453,7,100675887,100675887,Missense_Mutation,SNP,A,G,c.(1189-1191)aAt>aGt,4,49,1,103
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MOGAT3,346606,7,100841656,100841656,Intron,SNP,G,A,,4,26,0,46
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MYL10,93408,7,101272318,101272318,Intron,SNP,T,C,,11,118,0,78
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PODXL,5420,7,131194992,131194992,Intron,SNP,T,C,,4,66,0,50
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,AGBL3,340351,7,134694832,134694832,Missense_Mutation,SNP,C,T,c.(349-351)gCg>gTg,5,112,0,46
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MKRN1,23608,7,140175099,140175099,Intron,SNP,T,C,,5,117,0,60
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NOS3,4846,7,150700345,150700345,Missense_Mutation,SNP,T,C,c.(1858-1860)gTt>gCt,9,294,0,133
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,VPS37A,137492,8,17105826,17105826,Intron,SNP,C,T,,8,310,0,170
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ADRA1A,148,8,26606162,26606162,Missense_Mutation,SNP,T,C,c.(1372-1374)cAa>cGa,5,128,0,34
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CEBPD,1052,8,48650120,48650120,Missense_Mutation,SNP,T,C,c.(562-564)gAc>gGc,37,126,0,119
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,LACTB2,51110,8,71573268,71573268,Intron,SNP,A,G,,5,30,0,47
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,XKR9,389668,8,71595750,71595750,Intron,SNP,C,T,,7,322,1,122
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RMDN1,51115,8,87507190,87507190,Intron,SNP,G,A,,6,162,0,62
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,LRRC69,100130742,8,92130459,92130459,Intron,SNP,G,A,,6,176,0,111
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,LRRC69,100130742,8,92130471,92130471,Intron,SNP,G,A,,7,134,0,96
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RIMS2,9699,8,104932988,104932988,Intron,SNP,C,T,,5,84,1,69
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TG,7038,8,133900698,133900698,Silent,SNP,C,T,c.(2644-2646)tcC>tcT,4,20,0,58
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C8orf17,100507249,8,140944733,140944733,Silent,SNP,G,A,c.(202-204)gcG>gcA,7,348,0,228
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C8orf17,100507249,8,140944745,140944745,Silent,SNP,G,A,c.(214-216)acG>acA,13,287,0,210
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DMRT1,1761,9,842284,842284,Intron,SNP,C,G,,7,198,0,66
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DMRT1,1761,9,842303,842303,Intron,SNP,T,C,,7,153,0,54
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ACO1,48,9,32445480,32445480,Intron,SNP,C,G,,4,13,0,9
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TRPM6,140803,9,77490191,77490191,Intron,SNP,A,G,,5,118,0,98
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,IDNK,414328,9,86241515,86241515,Intron,SNP,T,A,,6,213,0,92
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,IDNK,414328,9,86241607,86241607,Intron,SNP,T,C,,6,81,0,49
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,WNK2,65268,9,96015301,96015301,Silent,SNP,C,T,c.(1969-1971)agC>agT,5,225,0,82
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,LPAR1,1902,9,113637733,113637733,Missense_Mutation,SNP,C,T,c.(1063-1065)Gga>Aga,5,128,0,89
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MORN5,254956,9,124922288,124922288,Missense_Mutation,SNP,G,A,c.(37-39)Gta>Ata,5,80,0,106
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PRDM12,59335,9,133556646,133556646,Missense_Mutation,SNP,C,T,c.(694-696)Ccg>Tcg,4,65,0,54
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SARDH,1757,9,136590723,136590723,Intron,SNP,G,A,,6,129,0,60
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FUT7,2529,9,139925947,139925947,Nonsense_Mutation,SNP,G,A,c.(244-246)Cga>Tga,7,489,0,248
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DPH7,92715,9,140450094,140450094,Missense_Mutation,SNP,C,A,c.(955-957)aGg>aTg,4,38,0,42
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DIP2C,22982,10,370927,370927,Intron,SNP,T,C,,6,111,0,69
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MLLT10,8028,10,21840793,21840793,Intron,SNP,A,G,,6,137,1,65
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SVIL,6840,10,29821981,29821981,Missense_Mutation,SNP,T,C,c.(1315-1317)Aaa>Gaa,5,78,0,142
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,JMJD1C,221037,10,65061538,65061538,Intron,SNP,G,T,,5,115,0,122
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,LDB3,11155,10,88492293,88492293,Intron,SNP,A,C,,9,332,0,205
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FRA10AC1,118924,10,95435377,95435377,Intron,SNP,A,G,,5,130,0,44
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SORBS1,10580,10,97146765,97146765,Missense_Mutation,SNP,T,C,c.(1408-1410)cAa>cGa,4,19,0,11
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C10orf12,26148,10,98744183,98744183,Silent,SNP,C,A,c.(3034-3036)gcC>gcA,4,58,0,124
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FAM178A,55719,10,102685928,102685928,Intron,SNP,A,G,,7,67,0,69
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C10orf95,79946,10,104213908,104213908,5'Flank,SNP,A,G,,5,63,0,74
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ATRNL1,26033,10,117357168,117357168,Intron,SNP,C,T,,12,579,0,186
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,EIF3A,8661,10,120797700,120797700,Intron,SNP,A,G,,5,91,0,109
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CTBP2,1488,10,126714840,126714840,Intron,SNP,C,T,,14,860,0,241
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF195,7748,11,3383020,3383020,Missense_Mutation,SNP,T,C,c.(325-327)aAc>aGc,9,190,0,123
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF215,7762,11,7005441,7005441,Missense_Mutation,SNP,T,C,c.(886-888)gTg>gCg,9,85,0,32
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MRVI1,10335,11,10711829,10711829,5'UTR,SNP,T,C,,7,26,0,26
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RPS13,6207,11,17098025,17098025,Intron,SNP,T,C,,8,80,0,36
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RPS13,6207,11,17098059,17098059,Intron,SNP,C,T,,6,129,0,46
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RPS13,6207,11,17098075,17098075,Intron,SNP,A,C,,6,169,0,57
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,LDLRAD3,143458,11,36205640,36205640,Intron,SNP,C,T,,7,56,0,46
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ARHGAP1,392,11,46699414,46699414,3'UTR,SNP,T,C,,9,114,1,67
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NUP160,23279,11,47848652,47848652,Intron,SNP,T,C,,9,472,0,240
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NUP160,23279,11,47848659,47848659,Intron,SNP,T,C,,10,451,0,249
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NUP160,23279,11,47848742,47848742,Intron,SNP,C,T,,7,147,0,120
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TRIM51,84767,11,55657518,55657518,Intron,SNP,G,A,,7,64,0,172
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FADS1,3992,11,61579389,61579389,Intron,SNP,C,T,,7,109,0,72
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,AHNAK,79026,11,62289981,62289981,Missense_Mutation,SNP,C,T,c.(11908-11910)Gtt>Att,6,175,1,321
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SLC3A2,6520,11,62644260,62644260,Intron,SNP,A,G,,5,110,0,51
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SLC3A2,6520,11,62644279,62644279,Intron,SNP,A,G,,9,155,0,65
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SHANK2,22941,11,70753998,70753998,Intron,SNP,A,G,,14,410,0,173
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SHANK2,22941,11,70754004,70754004,Intron,SNP,C,T,,9,425,0,163
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SHANK2,22941,11,70754013,70754013,Intron,SNP,T,C,,11,430,1,158
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SHANK2,22941,11,70754131,70754131,Intron,SNP,G,A,,8,81,0,59
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SYTL2,54843,11,85419121,85419121,Intron,SNP,G,A,,7,196,0,59
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PRSS23,11098,11,86518803,86518803,Missense_Mutation,SNP,G,A,c.(118-120)Gtc>Atc,18,142,0,188
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TMEM135,65084,11,86749194,86749194,Missense_Mutation,SNP,A,T,c.(106-108)gAg>gTg,64,273,0,272
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,GRM5,2915,11,88242340,88242340,Missense_Mutation,SNP,G,A,c.(3058-3060)tCg>tTg,36,680,0,325
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,GRM5,2915,11,88658934,88658934,Intron,SNP,C,G,,8,443,0,161
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NXPE2,120406,11,114578230,114578230,IGR,SNP,A,C,,6,64,0,25
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CADM1,23705,11,115316526,115316526,Intron,SNP,C,T,,10,200,0,104
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TMPRSS4-AS1,100526771,11,117896345,117896345,RNA,SNP,A,G,,8,106,0,98
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ERC1,23085,12,1353735,1353735,Intron,SNP,A,T,,12,306,0,111
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NOP2,4839,12,6667234,6667234,Intron,SNP,A,G,,6,197,0,104
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C1RL,51279,12,7247780,7247780,3'UTR,SNP,T,C,,5,93,0,46
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DPPA3,359787,12,7868023,7868023,Splice_Site,SNP,G,A,c.(325-327)acG>acA,4,109,0,203
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NANOGNB,360030,12,7917905,7917905,Silent,SNP,G,A,c.(22-24)acG>acA,5,151,1,96
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CLEC7A,64581,12,10277753,10277753,Intron,SNP,T,C,,7,192,1,74
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,Unknown,0,12,19705823,19705823,IGR,SNP,A,G,,5,35,0,25
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,Unknown,0,12,19705835,19705835,IGR,SNP,T,C,,4,32,0,25
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SLC48A1,55652,12,48174625,48174625,3'UTR,SNP,T,C,,6,150,0,99
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,GAS2L3,283431,12,101018016,101018016,Missense_Mutation,SNP,A,G,c.(1432-1434)cAt>cGt,20,93,0,172
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CCDC53,51019,12,102444336,102444336,Intron,SNP,A,G,,7,203,0,120
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MVK,4598,12,110017067,110017067,Intron,SNP,T,C,,11,145,0,67
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,IFT81,28981,12,110605768,110605768,Intron,SNP,T,C,,6,54,0,21
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,IFT81,28981,12,110654419,110654419,Intron,SNP,A,G,,6,122,0,77
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,HVCN1,84329,12,111088020,111088020,Nonsense_Mutation,SNP,G,A,c.(709-711)Caa>Taa,37,124,1,177
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ACAD10,80724,12,112148158,112148158,Intron,SNP,G,C,,6,270,1,100
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SDSL,113675,12,113863630,113863630,Intron,SNP,A,T,,7,72,0,40
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RNFT2,84900,12,117289508,117289508,3'UTR,SNP,A,T,,6,53,0,26
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RNFT2,84900,12,117289517,117289517,3'UTR,SNP,A,G,,5,63,0,29
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RFC5,5985,12,118455520,118455520,Intron,SNP,T,G,,6,99,1,64
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RIMBP2,23504,12,130921446,130921446,Missense_Mutation,SNP,T,C,c.(1996-1998)Acc>Gcc,20,222,0,69
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ANKLE2,23141,12,133310619,133310619,Intron,SNP,C,T,,9,254,0,142
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF268,10795,12,133761245,133761245,Intron,SNP,T,C,,7,190,1,57
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CENPJ,55835,13,25478089,25478089,Nonsense_Mutation,SNP,G,A,c.(2800-2802)Cga>Tga,7,196,0,264
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TPTE2P1,646405,13,25516137,25516137,RNA,SNP,T,C,,6,141,1,44
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DOCK9,23348,13,99537612,99537612,Intron,SNP,T,C,,6,62,0,41
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,UBAC2,337867,13,99886641,99886641,Intron,SNP,G,A,,8,120,0,33
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CHD8,57680,14,21861824,21861824,Nonsense_Mutation,SNP,G,A,c.(6130-6132)Cga>Tga,10,78,0,102
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DCAF11,80344,14,24586924,24586924,Missense_Mutation,SNP,G,C,c.(457-459)caG>caC,4,78,0,92
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CFL2,1073,14,35183838,35183838,5'UTR,SNP,G,A,,63,188,0,120
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MDGA2,161357,14,47504273,47504273,Missense_Mutation,SNP,C,A,c.(1552-1554)aGc>aTc,4,29,0,88
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C14orf105,55195,14,57942298,57942298,Intron,SNP,A,G,,5,43,0,29
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C14orf105,55195,14,57942386,57942386,Intron,SNP,T,C,,5,119,0,45
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PIGH,5283,14,68058961,68058961,Intron,SNP,A,G,,5,184,0,64
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PIGH,5283,14,68059138,68059138,Intron,SNP,A,G,,4,9,0,25
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PTGR2,145482,14,74341330,74341330,Intron,SNP,A,G,,8,208,0,83
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ADCK1,57143,14,78294258,78294258,Intron,SNP,A,G,,9,118,0,43
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ADCK1,57143,14,78294297,78294297,Intron,SNP,A,G,,8,50,0,26
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RP11-322L20.1,0,14,87387919,87387919,Silent,SNP,A,G,c.(262-264)ggA>ggG,5,50,0,30
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RP11-944C7.1,0,14,90097791,90097791,Silent,SNP,G,A,c.(118-120)gaC>gaT,7,148,0,127
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RPS6KA5,9252,14,91518744,91518744,Intron,SNP,G,A,,6,140,0,57
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PPP1R13B,23368,14,104260934,104260934,Intron,SNP,A,G,,6,151,0,64
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NUTM1,256646,15,34649141,34649141,Nonsense_Mutation,SNP,C,T,c.(2848-2850)Caa>Taa,4,42,0,127
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CASC5,57082,15,40903080,40903080,Intron,SNP,C,T,,9,192,0,92
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SNX1,6642,15,64407788,64407788,Intron,SNP,G,A,,6,145,0,58
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RP11-321F6.1,0,15,66956793,66956793,Intron,SNP,A,G,,5,79,0,64
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DNM1P46,196968,15,100330445,100330445,RNA,SNP,T,C,,8,132,0,45
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C16orf89,146556,16,5094662,5094662,Silent,SNP,A,G,c.(1129-1131)caT>caC,7,154,0,128
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C16orf89,146556,16,5094809,5094809,Silent,SNP,T,C,c.(982-984)gtA>gtG,16,221,0,95
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CCDC101,112869,16,28599996,28599996,Intron,SNP,T,C,,10,144,0,61
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PRR14,78994,16,30663648,30663648,Intron,SNP,T,C,,7,263,0,167
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FUS,2521,16,31204135,31204135,IGR,SNP,C,T,,6,227,0,164
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FUS,2521,16,31205733,31205733,IGR,SNP,T,C,,6,157,0,106
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PYCARD,29108,16,31213909,31213909,Missense_Mutation,SNP,C,T,c.(103-105)Ggc>Agc,34,575,0,189
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ORC6,23594,16,46731755,46731755,3'UTR,SNP,A,G,,5,205,0,204
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ORC6,23594,16,46731797,46731797,3'UTR,SNP,T,C,,5,107,0,118
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RPGRIP1L,23322,16,53656162,53656162,Missense_Mutation,SNP,T,G,c.(3400-3402)gAt>gCt,8,188,0,59
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RPGRIP1L,23322,16,53656168,53656168,Missense_Mutation,SNP,T,C,c.(3394-3396)cAa>cGa,6,194,0,56
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NUP93,9688,16,56876516,56876516,Intron,SNP,A,G,,10,419,0,176
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CNOT1,23019,16,58577615,58577615,Missense_Mutation,SNP,T,C,c.(4330-4332)Atg>Gtg,4,46,0,81
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,KIAA0895L,653319,16,67212091,67212091,Intron,SNP,C,T,,7,65,0,55
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,E2F4,1874,16,67231519,67231519,Nonsense_Mutation,SNP,G,T,c.(1051-1053)Gag>Tag,39,108,0,155
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,LRRC36,55282,16,67396151,67396151,Intron,SNP,T,C,,5,146,0,72
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SLC7A6OS,84138,16,68344630,68344630,Intron,SNP,C,T,,4,40,0,63
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DDX19A,55308,16,70381835,70381835,Intron,SNP,C,T,,5,107,0,52
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF23,7571,16,71484502,71484502,Intron,SNP,G,A,,8,148,0,55
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PRPF8,10594,17,1556893,1556893,Silent,SNP,G,A,c.(6310-6312)taC>taT,39,176,1,315
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RABEP1,9135,17,5276671,5276671,Missense_Mutation,SNP,T,G,c.(1945-1947)aaT>aaG,12,44,0,65
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C1QBP,708,17,5334687,5334687,IGR,SNP,C,A,,8,221,0,92
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TP53,7157,17,7577539,7577539,Missense_Mutation,SNP,G,A,c.(742-744)Cgg>Tgg,17,433,0,296
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SREBF1,6720,17,17720937,17720937,Intron,SNP,C,T,,17,354,0,224
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MYO15A,51168,17,18034622,18034622,Missense_Mutation,SNP,C,T,c.(4108-4110)Cgc>Tgc,6,394,1,298
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NLE1,54475,17,33462000,33462000,Intron,SNP,A,G,,7,209,1,58
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SLFN12L,100506736,17,33801967,33801967,Missense_Mutation,SNP,C,A,c.(1741-1743)tGg>tTg,4,31,0,57
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SPOP,8405,17,47696426,47696426,Missense_Mutation,SNP,A,C,c.(397-399)Ttc>Gtc,6,37,0,75
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SLC16A6P1,440459,17,62950253,62950253,RNA,SNP,T,G,,4,40,2,127
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TMEM104,54868,17,72773786,72773786,Intron,SNP,C,T,,7,202,0,134
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TMEM104,54868,17,72773797,72773797,Intron,SNP,G,A,,6,168,0,110
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ACOX1,51,17,73944499,73944499,Nonsense_Mutation,SNP,G,A,c.(1768-1770)Cag>Tag,5,237,0,349
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DNAH17,8632,17,76446435,76446435,Silent,SNP,C,T,c.(10924-10926)gcG>gcA,40,268,0,205
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NARF,26502,17,80441078,80441078,Intron,SNP,A,C,,6,77,0,25
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CLUL1,27098,18,618061,618061,Missense_Mutation,SNP,G,A,c.(61-63)Gca>Aca,12,146,0,173
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NPIPB1P,729602,18,11639371,11639371,RNA,SNP,T,C,,6,408,0,424
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,IMPA2,3613,18,12017706,12017706,Intron,SNP,T,G,,6,51,0,42
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,IMPA2,3613,18,12017712,12017712,Intron,SNP,T,C,,5,49,0,41
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,BSG,682,19,579462,579462,Intron,SNP,C,T,,21,204,0,105
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MBD3,53615,19,1575265,1575265,IGR,SNP,T,C,,9,140,0,74
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,HDGFRP2,0,19,4496927,4496927,Intron,SNP,A,G,,7,143,0,65
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,KDM4B,23030,19,5144040,5144040,Silent,SNP,C,T,c.(2611-2613)taC>taT,20,160,0,71
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PTPRS,5802,19,5174027,5174027,5'UTR,SNP,T,C,,6,56,0,23
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF700,90592,19,12060380,12060380,Missense_Mutation,SNP,A,G,c.(1540-1542)gAg>gGg,4,67,1,180
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF788,388507,19,12204966,12204966,Intron,SNP,T,C,,5,146,1,48
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,AC008686.1,0,19,13900115,13900115,Intron,SNP,G,A,,9,113,0,62
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NOTCH3,4854,19,15292542,15292542,Silent,SNP,G,A,c.(2635-2637)ttC>ttT,8,494,0,216
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NWD1,284434,19,16855879,16855879,Intron,SNP,A,G,,6,167,0,111
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,IL12RB1,3594,19,18182074,18182074,Intron,SNP,C,T,,5,104,0,64
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RFXANK,8625,19,19311637,19311637,Intron,SNP,C,T,,8,76,0,14
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF93,81931,19,20042907,20042907,Intron,SNP,T,C,,4,23,0,16
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF93,81931,19,20045330,20045330,Silent,SNP,A,T,c.(1564-1566)tcA>tcT,7,158,1,272
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF714,148206,19,21301065,21301065,Missense_Mutation,SNP,G,A,c.(1594-1596)gGc>gAc,5,88,0,58
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF208,7757,19,22154841,22154841,Missense_Mutation,SNP,T,C,c.(2995-2997)Aaa>Gaa,6,160,0,278
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF208,7757,19,22156194,22156194,Missense_Mutation,SNP,T,C,c.(1642-1644)Act>Gct,4,100,1,295
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CTC-457E21.9,0,19,22869123,22869123,RNA,SNP,A,G,,5,155,0,332
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF726,730087,19,24115958,24115958,Missense_Mutation,SNP,C,G,c.(1039-1041)gCc>gGc,5,109,0,253
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C19orf12,83636,19,30190115,30190115,IGR,SNP,C,T,,4,67,0,61
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C19orf12,83636,19,30190364,30190364,IGR,SNP,C,T,,8,43,0,30
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FFAR2,2867,19,35941265,35941265,Missense_Mutation,SNP,C,T,c.(649-651)Cgg>Tgg,10,293,0,196
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,U2AF1L4,199746,19,36234549,36234549,Intron,SNP,A,C,,4,25,0,42
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,U2AF1L4,199746,19,36234578,36234578,Intron,SNP,G,A,,6,57,0,73
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NFKBID,84807,19,36381499,36381499,Intron,SNP,T,C,,8,408,1,236
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF850,342892,19,37240928,37240928,Silent,SNP,A,G,c.(1012-1014)gaT>gaC,4,58,1,126
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,HKR1,284459,19,37850466,37850466,Intron,SNP,T,C,,5,43,0,21
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CYP2F1,1572,19,41629141,41629141,Intron,SNP,C,T,,4,51,0,73
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CYP2F1,1572,19,41629142,41629142,Intron,SNP,A,G,,5,51,0,72
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CEACAM1,634,19,43020933,43020933,Intron,SNP,T,C,,8,62,0,41
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CEACAM1,634,19,43020934,43020934,Intron,SNP,T,C,,7,63,0,41
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C5AR2,27202,19,47844267,47844267,Missense_Mutation,SNP,A,C,c.(211-213)Acc>Ccc,22,628,0,334
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NUP62,23636,19,50410836,50410836,3'UTR,SNP,T,C,,11,144,0,62
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF578,147660,19,53014481,53014481,Missense_Mutation,SNP,A,G,c.(847-849)Agt>Ggt,4,86,0,233
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZNF701,55762,19,53075587,53075587,Silent,SNP,T,C,c.(91-93)ggT>ggC,5,143,0,91
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ITCH,83737,20,33005001,33005001,Missense_Mutation,SNP,T,C,c.(553-555)tTa>tCa,8,237,0,68
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,AAR2,25980,20,34858561,34858561,Missense_Mutation,SNP,G,A,c.(1093-1095)aGa>aAa,10,330,0,147
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,HELZ2,85441,20,62198671,62198671,Silent,SNP,C,T,c.(2038-2040)ccG>ccA,9,513,0,278
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,BAGE2,85319,21,11097565,11097565,RNA,SNP,G,T,,37,505,1,308
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,APP,351,21,27318267,27318267,Intron,SNP,A,G,,13,145,0,101
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SLC5A3,6526,21,35469198,35469198,Missense_Mutation,SNP,G,T,c.(1699-1701)atG>atT,5,60,0,125
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DOPEY2,9980,21,37583916,37583916,Silent,SNP,C,T,c.(745-747)atC>atT,24,97,0,152
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ABCG1,9619,21,43636262,43636262,5'Flank,SNP,C,T,,6,166,0,123
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ABCG1,9619,21,43693487,43693487,Missense_Mutation,SNP,G,T,c.(478-480)tGc>tTc,90,396,0,159
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TMPRSS3,64699,21,43792561,43792561,3'UTR,SNP,G,C,,8,183,0,124
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TMPRSS3,64699,21,43792576,43792576,3'UTR,SNP,A,G,,6,189,0,128
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PKNOX1,5316,21,44452249,44452249,3'UTR,SNP,T,C,,7,145,0,60
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PKNOX1,5316,21,44452261,44452261,3'UTR,SNP,C,T,,5,173,0,69
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,BCL2L13,23786,22,18167431,18167431,Intron,SNP,A,G,,6,161,0,103
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MYO18B,84700,22,26270359,26270359,Missense_Mutation,SNP,G,T,c.(4060-4062)cGc>cTc,34,81,0,150
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MN1,4330,22,28193223,28193223,Silent,SNP,G,A,c.(3307-3309)ctC>ctT,5,171,0,93
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RTCB,51493,22,32797857,32797857,Missense_Mutation,SNP,C,A,c.(373-375)cGc>cTc,5,66,0,99
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TOM1,10043,22,35727305,35727305,Intron,SNP,G,A,,10,443,0,136
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CBX6,23466,22,39262658,39262658,Silent,SNP,G,A,c.(793-795)gcC>gcT,4,40,0,60
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MAP3K15,389840,X,19426664,19426664,Intron,SNP,T,G,,8,71,0,15
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NIPAL3,57185,1,24780692,24780693,Intron,INS,-,T,,28,8,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZMYM4,9202,1,35873590,35873590,Intron,DEL,G,-,,5,23,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CAP1,10487,1,40527557,40527558,Intron,INS,-,G,,3,15,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,COL9A2,1298,1,40775473,40775473,Intron,DEL,T,-,,5,15,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FOXJ3,22887,1,42647509,42647510,Intron,INS,-,TCTCTT,,8,2,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,GDAP2,54834,1,118454613,118454617,Splice_Site,DEL,TACGA,-,c.(556-561)cttcgt>ctt,4,63,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RORC,6097,1,151804006,151804007,Intron,INS,-,GC,,0,10,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,INTS3,65123,1,153724576,153724580,Intron,DEL,CAGCT,-,,2,2,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ETV3,2117,1,157105500,157105512,Splice_Site,DEL,CCTTTCATGTGAG,-,c.(46-48)gct>gt,4,68,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,GORAB,92344,1,170501278,170501285,5'UTR,DEL,GGAAAAAC,-,,26,805,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PKP1,5317,1,201262936,201262937,Intron,INS,-,T,,5,4,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RAB3GAP2,25782,1,220331050,220331051,Intron,INS,-,C,,3,18,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,EPT1,85465,2,26596154,26596155,Intron,INS,-,TC,,3,1,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FNDC4,64838,2,27719990,27719991,5'Flank,INS,-,T,,3,21,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PAPOLG,64895,2,60995501,60995501,Intron,DEL,T,-,,4,0,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,AC105399.2,0,2,78020124,78020124,RNA,DEL,C,-,,17,37,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RAPH1,65059,2,204341954,204341955,Intron,INS,-,GA,,3,9,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DCBLD2,131566,3,98530378,98530379,Frame_Shift_Ins,INS,-,C,c.(1381-1386)actcaafs,5,31,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,KIAA1524,57650,3,108298550,108298552,Intron,DEL,GTT,-,,4,9,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,P2RY13,53829,3,151046771,151046772,Frame_Shift_Ins,INS,-,G,c.(70-75)accacafs,3,22,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MFN1,55669,3,179104156,179104157,Intron,INS,-,G,,4,9,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MCF2L2,23101,3,183013109,183013109,Frame_Shift_Del,DEL,T,-,c.(1654-1656)accfs,4,22,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NOP14,8602,4,2955398,2955399,Intron,INS,-,A,,3,23,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NMU,10874,4,56482453,56482454,Intron,INS,-,T,,4,28,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,EDNRA,1909,4,148460900,148460901,Intron,DEL,AC,-,,2,0,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C6,729,5,41172563,41172564,Intron,INS,-,C,,3,7,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,Unknown,0,5,110285503,110285504,IGR,INS,-,TC,,6,37,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RBM27,54439,5,145641334,145641334,Frame_Shift_Del,DEL,T,-,c.(2155-2157)tctfs,11,65,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,LCP2,3937,5,169714890,169714891,Intron,INS,-,CC,,6,42,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NUP153,9972,6,17626041,17626043,In_Frame_Del,DEL,GCA,-,c.(3895-3900)tctgca>tca,4,16,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FBXO9,26268,6,52935825,52935826,Frame_Shift_Ins,INS,-,T,c.(4-6)cctfs,3,38,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DST,667,6,56330937,56330938,Frame_Shift_Ins,INS,-,TCATC,c.(21664-21666)gttfs,3,68,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ARMC2,84071,6,109225581,109225582,Frame_Shift_Del,DEL,CC,-,c.(994-999)agccttfs,3,17,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FIGNL1,63979,7,50513896,50513897,Frame_Shift_Ins,INS,-,A,c.(1087-1092)gcaggafs,4,21,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PON3,5446,7,94996565,94996565,Intron,DEL,C,-,,4,13,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,8,8,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PCM1,5108,8,17813311,17813311,3'UTR,DEL,T,-,,4,1,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FREM1,158326,9,14740102,14740105,Intron,DEL,GTCC,-,,3,8,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,GBA2,57704,9,35749945,35749946,5'Flank,INS,-,CC,,5,13,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SETX,23064,9,135163804,135163805,Intron,INS,-,C,,2,13,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ADAMTS13,11093,9,136304706,136304706,Intron,DEL,A,-,,3,17,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PSAP,5660,10,73585764,73585765,Intron,INS,-,A,,4,14,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PTEN,5728,10,89692768,89692768,Splice_Site,DEL,A,-,c.e5-1,27,62,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FADS1,3992,11,61579378,61579379,Intron,INS,-,GACGG,,6,107,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,RASGRP2,10235,11,64509156,64509157,Intron,DEL,CT,-,,1,19,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,LTBP3,4054,11,65319301,65319302,Intron,INS,-,AG,,3,8,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SIK2,23235,11,111574204,111574205,Intron,INS,-,T,,3,4,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TEAD4,7004,12,3131169,3131170,Frame_Shift_Ins,INS,-,ATATG,c.(496-498)cttfs,3,60,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,BCL2L14,79370,12,12232164,12232165,Intron,INS,-,C,,3,1,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ADAMTS20,80070,12,43822336,43822338,Splice_Site,DEL,TGA,-,c.e26-2,3,19,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ATF1,466,12,51207956,51207957,Frame_Shift_Ins,INS,-,T,c.(493-495)aatfs,2,12,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,KRT77,374454,12,53096884,53096887,Frame_Shift_Del,DEL,AAAC,-,c.(331-336)ggttttfs,1,40,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PAN2,9924,12,56716743,56716744,Intron,INS,-,T,,13,11,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PTPRB,5787,12,70964790,70964790,Intron,DEL,C,-,,3,12,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,PLXNC1,10154,12,94645154,94645154,Intron,DEL,T,-,,3,24,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TEP1,7011,14,20874341,20874341,Intron,DEL,A,-,,4,5,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TRAV18,28665,14,22470650,22470650,RNA,DEL,G,-,,6,20,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,SIX1,6495,14,61115615,61115627,Frame_Shift_Del,DEL,AGCTTCTCGGCCT,-,c.(280-294)gaggccgagaagctgfs,32,317,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MTHFD1,4522,14,64897061,64897061,Intron,DEL,A,-,,4,52,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,COX16,51241,14,70826146,70826146,Intron,DEL,C,-,,3,13,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ENTPD5,957,14,74440748,74440749,Intron,INS,-,G,,3,15,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TRIP11,9321,14,92493073,92493074,Intron,INS,-,A,,11,103,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,DYX1C1,161582,15,55722801,55722801,3'UTR,DEL,A,-,,3,4,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ZP2,7783,16,21213538,21213538,Frame_Shift_Del,DEL,C,-,c.(1174-1176)gacfs,3,16,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ELP5,23587,17,7161886,7161887,Intron,INS,-,A,,4,27,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,MYH3,4621,17,10553118,10553119,Intron,INS,-,A,,3,14,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,STAT5B,6777,17,40362045,40362046,Intron,INS,-,A,,1,0,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,AXIN2,8313,17,63530249,63530255,Intron,DEL,TCTAAAG,-,,3,74,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C1QTNF1,114897,17,77039689,77039691,5'UTR,DEL,TGT,-,,3,6,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,TIMM44,10469,19,7996171,7996172,Intron,INS,-,AC,,8,56,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CYP4F8,11283,19,15729137,15729137,RNA,DEL,G,-,,11,50,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FKBP8,23770,19,18652477,18652478,Intron,INS,-,C,,1,57,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ETHE1,23474,19,44012352,44012353,Intron,INS,-,CGG,,5,9,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,FUT1,2523,19,49254370,49254371,Frame_Shift_Ins,INS,-,A,c.(166-171)tgcctgfs,1,60,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,NLRP7,199713,19,55444749,55444750,Intron,INS,-,GG,,4,2,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,C20orf194,25943,20,3240006,3240007,Intron,INS,-,AT,,4,10,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,BCAS1,8537,20,52561387,52561388,3'UTR,INS,-,C,,3,15,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CLTCL1,8218,22,19220878,19220879,Intron,INS,-,TG,,3,16,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,BMS1P20,96610,22,22662989,22662989,RNA,DEL,T,-,,4,4,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,CHKB,1120,22,51019657,51019658,Intron,INS,-,C,,3,1,,
RP-1532_PCProject_0399_T2_v4_Exome_OnPrem,ARHGEF6,9459,X,135790780,135790781,Intron,INS,-,AT,,3,16,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PEX14,5195,1,10683103,10683103,Missense_Mutation,SNP,G,A,c.(412-414)Ggc>Agc,8,401,0,273
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,EPHA2,1969,1,16475452,16475452,Missense_Mutation,SNP,G,A,c.(244-246)Cgc>Tgc,7,249,0,266
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,OTUD3,23252,1,20232975,20232975,Missense_Mutation,SNP,C,T,c.(886-888)Cct>Tct,5,99,0,72
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZBTB40,9923,1,22852823,22852823,Silent,SNP,C,T,c.(3652-3654)ctC>ctT,5,89,1,156
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SYTL1,84958,1,27676444,27676444,Intron,SNP,C,T,,7,336,0,208
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MAP7D1,55700,1,36642072,36642072,Missense_Mutation,SNP,G,A,c.(1123-1125)Gtc>Atc,7,283,0,104
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DMAP1,55929,1,44679447,44679447,Missense_Mutation,SNP,C,T,c.(22-24)Cgg>Tgg,6,150,0,80
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MAST2,23139,1,46496683,46496683,Missense_Mutation,SNP,C,T,c.(2713-2715)Cgg>Tgg,5,89,0,75
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CYB5RL,606495,1,54645689,54645689,Intron,SNP,T,C,,5,82,0,77
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,LPAR3,23566,1,85331691,85331691,Missense_Mutation,SNP,G,A,c.(112-114)aCg>aTg,5,115,0,126
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,HFM1,164045,1,91851275,91851275,Missense_Mutation,SNP,C,T,c.(610-612)aGg>aAg,4,71,0,73
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TGFBR3,7049,1,92351632,92351632,5'UTR,SNP,C,T,,7,174,0,113
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GSTM2,2946,1,110214115,110214115,Silent,SNP,C,T,c.(475-477)atC>atT,5,71,0,70
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NOTCH2,4853,1,120459205,120459205,Missense_Mutation,SNP,C,T,c.(6139-6141)cGg>cAg,4,51,0,106
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,VPS45,11311,1,150115048,150115048,Intron,SNP,T,C,,5,127,0,68
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ARNT,405,1,150825718,150825718,Intron,SNP,T,C,,6,83,0,23
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TUFT1,7286,1,151553529,151553529,Intron,SNP,G,A,,4,57,0,65
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ATP8B2,57198,1,154313404,154313404,Missense_Mutation,SNP,C,T,c.(1207-1209)aCg>aTg,7,265,0,163
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DCST2,127579,1,154991103,154991103,Missense_Mutation,SNP,C,T,c.(2239-2241)Gga>Aga,6,230,0,110
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,IQGAP3,128239,1,156503837,156503837,Silent,SNP,C,T,c.(3835-3837)gtG>gtA,6,108,0,85
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NCSTN,23385,1,160314505,160314505,Intron,SNP,C,T,,6,285,0,209
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,USP21,27005,1,161134333,161134333,Nonsense_Mutation,SNP,C,T,c.(1315-1317)Cga>Tga,7,406,0,105
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RNASEL,6041,1,182555164,182555164,Missense_Mutation,SNP,C,G,c.(778-780)Gag>Cag,23,52,0,94
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,LAMC2,3918,1,183187614,183187614,Missense_Mutation,SNP,G,A,c.(493-495)cGc>cAc,6,219,0,131
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PRG4,10216,1,186276116,186276116,Missense_Mutation,SNP,C,T,c.(1264-1266)cCc>cTc,5,132,0,243
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZBTB41,360023,1,197128828,197128828,Silent,SNP,C,T,c.(2389-2391)acG>acA,7,217,0,174
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SHISA4,149345,1,201858593,201858593,Silent,SNP,C,T,c.(94-96)Ctg>Ttg,5,131,0,91
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RASSF5,83593,1,206756631,206756631,Missense_Mutation,SNP,C,T,c.(610-612)Cgc>Tgc,6,328,0,140
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CR1L,1379,1,207818586,207818586,Missense_Mutation,SNP,C,T,c.(7-9)cCt>cTt,5,93,0,114
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SYT14,255928,1,210139298,210139298,Intron,SNP,T,C,,7,129,0,64
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KCNH1,3756,1,211256200,211256200,Missense_Mutation,SNP,G,T,c.(478-480)agC>agA,12,41,0,50
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ANGEL2,90806,1,213180422,213180422,Intron,SNP,G,A,,7,200,0,58
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PTPN14,5784,1,214542934,214542934,Missense_Mutation,SNP,G,A,c.(3136-3138)aCg>aTg,6,268,0,200
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SPATA17,128153,1,217955552,217955552,Missense_Mutation,SNP,C,T,c.(760-762)Cgc>Tgc,23,21,0,48
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,2-Mar,54996,1,220921888,220921888,Silent,SNP,C,T,c.(13-15)agC>agT,5,125,0,45
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DISC1,27185,1,231990673,231990673,Missense_Mutation,SNP,A,G,c.(2170-2172)Act>Gct,5,122,0,51
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SIPA1L2,57568,1,232568054,232568054,Missense_Mutation,SNP,C,T,c.(4195-4197)Ggc>Agc,6,178,0,141
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ASAP2,8853,2,9484734,9484734,Missense_Mutation,SNP,G,A,c.(922-924)cGg>cAg,5,174,0,97
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NOL10,79954,2,10729860,10729860,Silent,SNP,G,A,c.(1438-1440)ctC>ctT,18,25,0,32
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SMC6,79677,2,17922059,17922059,Intron,SNP,T,G,,7,46,0,30
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PUM2,23369,2,20462950,20462950,Intron,SNP,C,T,,3,10,0,50
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ADCY3,109,2,25061779,25061779,Intron,SNP,C,T,,5,76,0,60
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CAD,790,2,27454980,27454980,Missense_Mutation,SNP,G,A,c.(2344-2346)Gca>Aca,6,239,1,207
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CAD,790,2,27463192,27463192,Silent,SNP,G,A,c.(5365-5367)ccG>ccA,6,234,0,153
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,LCLAT1,253558,2,30828933,30828933,Intron,SNP,T,C,,5,244,0,72
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,THADA,63892,2,43655351,43655351,Missense_Mutation,SNP,G,A,c.(3946-3948)Cgt>Tgt,6,243,0,75
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CAMKMT,79823,2,44858673,44858673,Intron,SNP,A,G,,4,92,1,55
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FAM161A,84140,2,62052835,62052835,3'UTR,SNP,C,T,,4,10,0,15
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TET3,200424,2,74326606,74326606,Silent,SNP,G,A,c.(3064-3066)aaG>aaA,7,341,0,193
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DQX1,165545,2,74755126,74755126,5'Flank,SNP,G,A,,7,172,0,110
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,LOXL3,84695,2,74776584,74776584,Missense_Mutation,SNP,C,T,c.(604-606)Gac>Aac,6,225,0,135
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,HK2,3099,2,75081444,75081444,Missense_Mutation,SNP,C,T,c.(88-90)Cgc>Tgc,6,206,0,129
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PTCD3,55037,2,86333385,86333385,Silent,SNP,T,C,c.(13-15)tcT>tcC,65,218,0,94
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SNRNP200,23020,2,96950768,96950768,Intron,SNP,G,A,,5,84,0,53
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZAP70,7535,2,98340707,98340707,Missense_Mutation,SNP,G,A,c.(208-210)Gcc>Acc,5,98,0,92
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MRPS9,64965,2,105654593,105654593,Missense_Mutation,SNP,C,T,c.(43-45)Cgg>Tgg,7,268,0,127
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,XIRP2,129446,2,168108311,168108311,Missense_Mutation,SNP,C,G,c.(10408-10410)tCt>tGt,27,22,0,94
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,LRP2,4036,2,170129444,170129444,Silent,SNP,G,A,c.(2107-2109)caC>caT,5,100,0,188
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,METTL5,29081,2,170668888,170668888,Intron,SNP,T,C,,6,81,0,75
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FKBP7,51661,2,179330589,179330589,Missense_Mutation,SNP,C,T,c.(577-579)Gtt>Att,4,53,0,67
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TTN,7273,2,179614935,179614935,Intron,SNP,G,C,,3,34,0,74
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FAM171B,165215,2,187605174,187605174,Missense_Mutation,SNP,C,T,c.(457-459)aCc>aTc,3,7,0,36
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FAM171B,165215,2,187605175,187605175,Silent,SNP,C,T,c.(457-459)acC>acT,3,7,0,34
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,COL5A2,1290,2,189929315,189929315,Missense_Mutation,SNP,G,A,c.(1684-1686)Cgt>Tgt,7,182,1,184
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SF3B1,23451,2,198267361,198267361,Missense_Mutation,SNP,T,C,c.(1996-1998)Aag>Gag,47,115,0,140
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,C2orf47,79568,2,200820833,200820833,Silent,SNP,G,A,c.(310-312)caG>caA,7,387,0,151
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PARD3B,117583,2,206480356,206480356,Missense_Mutation,SNP,C,T,c.(3436-3438)cCg>cTg,4,34,0,71
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DOCK10,55619,2,225659641,225659641,Silent,SNP,C,T,c.(5107-5109)ctG>ctA,6,144,0,173
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SP110,3431,2,231077540,231077540,Silent,SNP,C,T,c.(517-519)tcG>tcA,4,71,0,114
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GRIP2,80852,3,14554295,14554295,RNA,SNP,G,A,,25,63,0,64
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,OSBPL10,114884,3,31705667,31705667,Silent,SNP,G,A,c.(2152-2154)acC>acT,5,204,0,207
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TRANK1,9881,3,36897875,36897875,Missense_Mutation,SNP,A,G,c.(3205-3207)gTc>gCc,3,12,0,75
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MLH1,4292,3,37067175,37067175,Silent,SNP,C,T,c.(1084-1086)tcC>tcT,5,92,0,83
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,LRRFIP2,9209,3,37107352,37107352,Missense_Mutation,SNP,C,T,c.(1648-1650)Gtg>Atg,6,169,0,121
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CTNNB1,1499,3,41266124,41266124,Missense_Mutation,SNP,A,G,c.(121-123)Acc>Gcc,49,207,0,200
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FAM198A,729085,3,43074095,43074095,Missense_Mutation,SNP,C,T,c.(340-342)Cat>Tat,3,8,1,38
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SETD2,29072,3,47147209,47147209,Intron,SNP,G,A,,8,62,0,42
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SETD2,29072,3,47147221,47147221,Intron,SNP,C,T,,5,47,0,46
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SETD2,29072,3,47147222,47147222,Intron,SNP,G,A,,6,44,0,46
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MAP4,4134,3,47958225,47958225,Silent,SNP,T,C,c.(1090-1092)ttA>ttG,7,145,0,199
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CELSR3,1951,3,48694557,48694557,Missense_Mutation,SNP,C,T,c.(3973-3975)Gtg>Atg,8,303,0,189
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,USP4,7375,3,49349950,49349950,Intron,SNP,A,G,,5,163,0,59
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DOCK3,1795,3,51411935,51411935,Missense_Mutation,SNP,C,T,c.(5329-5331)Cgt>Tgt,5,133,1,117
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PCBP4,57060,3,51995179,51995179,Silent,SNP,C,T,c.(76-78)ggG>ggA,4,55,0,83
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SPCS1,28972,3,52740189,52740189,5'UTR,SNP,C,T,,7,312,0,150
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SFMBT1,51460,3,52946575,52946575,Missense_Mutation,SNP,C,T,c.(1708-1710)tGt>tAt,6,88,1,104
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FAM208A,23272,3,56716975,56716975,Silent,SNP,G,A,c.(58-60)ggC>ggT,5,110,0,82
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CPOX,1371,3,98312106,98312106,Silent,SNP,C,A,c.(241-243)gcG>gcT,2,0,0,12
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZBTB11,27107,3,101378799,101378799,Missense_Mutation,SNP,G,A,c.(1873-1875)cCc>cTc,5,122,0,143
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GRAMD1C,54762,3,113655209,113655209,Missense_Mutation,SNP,G,A,c.(1552-1554)cGa>cAa,6,136,0,108
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZDHHC23,254887,3,113676682,113676682,Intron,SNP,G,A,,4,51,0,78
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ADCY5,111,3,123047642,123047642,Missense_Mutation,SNP,G,A,c.(1654-1656)Cgg>Tgg,4,35,0,53
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,UMPS,7372,3,124463111,124463111,3'UTR,SNP,C,T,,5,175,0,219
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ALDH1L1,10840,3,125873474,125873474,Nonsense_Mutation,SNP,G,A,c.(643-645)Cag>Tag,5,68,0,81
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZXDC,79364,3,126194352,126194352,Silent,SNP,G,A,c.(355-357)ccC>ccT,4,23,0,25
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KCNAB1,7881,3,156232214,156232214,Silent,SNP,G,A,c.(718-720)tcG>tcA,6,207,0,98
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RSRC1,51319,3,157849879,157849879,Intron,SNP,C,T,,5,71,0,42
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PHC3,80012,3,169868455,169868455,Intron,SNP,T,C,,5,38,0,14
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PLD1,5337,3,171406648,171406648,Missense_Mutation,SNP,G,C,c.(1357-1359)Cat>Gat,25,66,0,121
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TNFSF10,8743,3,172232713,172232713,Missense_Mutation,SNP,C,T,c.(208-210)Gaa>Aaa,8,443,0,118
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,EIF4G1,1981,3,184040177,184040177,Missense_Mutation,SNP,G,A,c.(1546-1548)cGg>cAg,6,284,0,152
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,LEPREL1,55214,3,189675751,189675751,Missense_Mutation,SNP,C,T,c.(2077-2079)Gaa>Aaa,7,287,0,158
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TM4SF19,116211,3,196046919,196046919,Intron,SNP,T,G,,7,36,1,23
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KIAA0226,9711,3,197421036,197421036,Intron,SNP,C,A,,5,33,0,62
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MSANTD1,345222,4,3257495,3257495,Missense_Mutation,SNP,C,T,c.(640-642)Cac>Tac,4,38,0,80
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RGS12,6002,4,3441201,3441201,Silent,SNP,C,T,c.(4132-4134)agC>agT,5,152,0,167
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SORCS2,57537,4,7691261,7691261,Missense_Mutation,SNP,G,A,c.(1537-1539)Gta>Ata,21,81,1,121
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SORCS2,57537,4,7719823,7719823,Silent,SNP,G,A,c.(2335-2337)ccG>ccA,5,135,0,125
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,LDB2,9079,4,16899984,16899984,Missense_Mutation,SNP,C,T,c.(124-126)cGc>cAc,4,32,0,40
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SOD3,6649,4,24801602,24801602,Silent,SNP,C,T,c.(457-459)gaC>gaT,8,433,0,262
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SEPSECS,51091,4,25161196,25161196,Intron,SNP,T,C,,8,170,0,49
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,STIM2,57620,4,27019571,27019571,Silent,SNP,G,A,c.(1726-1728)gaG>gaA,4,47,0,82
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TBC1D1,23216,4,38138849,38138849,Silent,SNP,C,T,c.(3400-3402)Ctg>Ttg,9,323,0,223
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,C4orf26,152816,4,76489735,76489735,3'UTR,SNP,C,T,,14,41,0,96
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FRAS1,80144,4,79410021,79410021,Intron,SNP,C,T,,3,13,0,54
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PTPN13,5783,4,87689027,87689027,Missense_Mutation,SNP,G,A,c.(4387-4389)Gta>Ata,4,64,0,66
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ADH1A,124,4,100203563,100203563,Silent,SNP,C,T,c.(766-768)aaG>aaA,5,105,0,194
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,LRIT3,345193,4,110791254,110791254,Missense_Mutation,SNP,G,A,c.(1348-1350)aGa>aAa,4,29,0,67
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ANK2,287,4,114267117,114267117,Missense_Mutation,SNP,C,T,c.(4309-4311)aCg>aTg,6,140,0,210
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,QRFPR,84109,4,122250633,122250633,Missense_Mutation,SNP,G,A,c.(1132-1134)Ctc>Ttc,4,43,0,68
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TRIM2,23321,4,154216858,154216858,Missense_Mutation,SNP,G,A,c.(1099-1101)Gcc>Acc,4,29,0,50
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FGA,2243,4,155507541,155507541,Missense_Mutation,SNP,T,C,c.(1039-1041)cAa>cGa,4,30,1,65
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FSTL5,56884,4,162307286,162307286,Silent,SNP,C,T,c.(2155-2157)caG>caA,5,62,0,105
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KLHL2,11275,4,166145154,166145154,Intron,SNP,A,C,,5,64,0,32
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RP11-487E13.1,0,4,178169415,178169415,Silent,SNP,G,T,c.(16-18)gcC>gcA,7,131,0,84
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PDLIM3,27295,4,186423584,186423584,Missense_Mutation,SNP,C,T,c.(958-960)tGt>tAt,8,366,0,273
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SLC9A3,6550,5,524363,524363,Silent,SNP,G,A,c.(73-75)gcC>gcT,6,67,0,68
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TRIO,7204,5,14508075,14508075,Silent,SNP,C,T,c.(8836-8838)acC>acT,6,83,0,114
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PRKAA1,5562,5,40777638,40777638,Nonsense_Mutation,SNP,G,A,c.(178-180)Cga>Tga,7,210,0,98
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF131,7690,5,43175596,43175596,3'UTR,SNP,C,G,,9,21,0,36
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PPIP5K2,23262,5,102484960,102484960,Silent,SNP,T,A,c.(847-849)ccT>ccA,11,44,0,73
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PRRC1,133619,5,126887531,126887531,Missense_Mutation,SNP,C,T,c.(1261-1263)Cgt>Tgt,6,448,0,199
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FBN2,2201,5,127641293,127641293,Nonsense_Mutation,SNP,G,A,c.(5584-5586)Cag>Tag,6,200,0,226
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,EGR1,1958,5,137803197,137803197,Silent,SNP,C,T,c.(1057-1059)gaC>gaT,8,579,0,233
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CTNNA1,1495,5,138163413,138163413,Intron,SNP,T,C,,4,62,0,106
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SLC35A4,113829,5,139947004,139947004,Missense_Mutation,SNP,C,T,c.(250-252)Cgc>Tgc,5,114,0,117
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PCDHB16,57717,5,140568425,140568425,IGR,SNP,C,T,,5,212,0,378
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PCDHGB3,56102,5,140750016,140750016,Missense_Mutation,SNP,C,T,c.(55-57)Ctc>Ttc,4,29,0,51
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PCDHGA7,56108,5,140762691,140762691,Silent,SNP,C,T,c.(223-225)ttC>ttT,4,26,0,41
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ANXA6,309,5,150502519,150502519,Missense_Mutation,SNP,G,A,c.(1192-1194)Cgg>Tgg,6,207,0,116
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GEMIN5,25929,5,154296604,154296604,Silent,SNP,G,A,c.(1807-1809)ggC>ggT,4,47,0,44
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ATP10B,23120,5,160067597,160067597,Missense_Mutation,SNP,G,A,c.(871-873)Cat>Tat,3,19,0,38
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PHYKPL,85007,5,177651594,177651594,Intron,SNP,C,T,,7,205,0,128
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,COL23A1,91522,5,177989201,177989201,Intron,SNP,A,C,,4,73,0,74
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,F13A1,2162,6,6305729,6305729,Nonsense_Mutation,SNP,C,T,c.(172-174)tgG>tgA,4,65,0,159
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RIOK1,83732,6,7414482,7414482,Silent,SNP,C,T,c.(1453-1455)ctC>ctT,5,55,0,41
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DEK,7913,6,18258622,18258622,Missense_Mutation,SNP,C,T,c.(160-162)Gtg>Atg,6,106,0,89
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SLC17A3,10786,6,25862608,25862608,Silent,SNP,C,T,c.(154-156)acG>acA,6,167,0,173
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CSNK2B,1460,6,31634918,31634918,Intron,SNP,C,T,,5,103,0,98
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TNXB,7148,6,32063881,32063881,Silent,SNP,C,T,c.(1747-1749)gaG>gaA,6,345,0,407
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TAP2,6891,6,32797830,32797830,Missense_Mutation,SNP,C,T,c.(1672-1674)Ggt>Agt,6,285,1,263
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PSMB8,5696,6,32808753,32808753,Missense_Mutation,SNP,G,A,c.(814-816)Cgg>Tgg,6,345,0,165
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,BRD2,6046,6,32945613,32945613,Missense_Mutation,SNP,C,T,c.(1408-1410)cCc>cTc,7,386,0,184
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PHF1,5252,6,33382247,33382247,Intron,SNP,C,T,,6,115,0,86
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TULP1,7287,6,35478680,35478680,Missense_Mutation,SNP,C,T,c.(457-459)Gca>Aca,6,246,0,244
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CUL9,23113,6,43164485,43164485,Silent,SNP,G,A,c.(2686-2688)acG>acA,6,192,0,203
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GPR116,221395,6,46830954,46830954,Intron,SNP,C,T,,5,70,0,102
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PKHD1,5314,6,51890825,51890825,Silent,SNP,G,A,c.(3781-3783)ggC>ggT,4,40,1,104
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KHDC3L,154288,6,74072443,74072443,5'UTR,SNP,C,T,,4,42,0,89
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MTO1,25821,6,74190056,74190056,Silent,SNP,T,C,c.(1168-1170)ggT>ggC,6,90,1,60
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF292,23036,6,87959025,87959025,Intron,SNP,T,A,,4,23,0,34
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PRDM1,639,6,106553018,106553018,Missense_Mutation,SNP,C,T,c.(982-984)cCc>cTc,3,16,0,45
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,REV3L,5980,6,111629391,111629391,Intron,SNP,A,T,,4,8,0,13
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RFX6,222546,6,117241618,117241618,Splice_Site,SNP,G,A,c.e12+1,6,183,0,173
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RPS12,6206,6,133137012,133137012,Intron,SNP,T,C,,7,94,0,50
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PEX7,5191,6,137191957,137191957,Intron,SNP,A,C,,4,33,0,29
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TXLNB,167838,6,139581468,139581468,Missense_Mutation,SNP,C,T,c.(988-990)cGa>cAa,6,189,0,99
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,AIG1,51390,6,143654514,143654514,Missense_Mutation,SNP,C,T,c.(610-612)aCc>aTc,4,38,0,51
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,UTRN,7402,6,144806643,144806643,Silent,SNP,C,T,c.(3808-3810)aaC>aaT,5,71,0,48
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PCMT1,5110,6,150086832,150086832,Intron,SNP,A,G,,5,120,0,44
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SYNE1,23345,6,152783947,152783947,Missense_Mutation,SNP,C,T,c.(2176-2178)Gaa>Aaa,4,90,0,146
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MPC1,51660,6,166783685,166783685,Intron,SNP,G,A,,4,32,0,77
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MLLT4,4301,6,168363222,168363222,Missense_Mutation,SNP,G,A,c.(4921-4923)cGa>cAa,10,301,0,90
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,HEATR2,54919,7,766604,766604,Missense_Mutation,SNP,C,T,c.(247-249)Cgc>Tgc,5,127,0,51
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,INTS1,26173,7,1539938,1539938,Silent,SNP,G,A,c.(412-414)atC>atT,5,140,0,99
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ABCB5,340273,7,20683156,20683156,Silent,SNP,G,A,c.(577-579)tcG>tcA,45,126,0,147
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF680,340252,7,63982003,63982003,Missense_Mutation,SNP,A,G,c.(1129-1131)Tcc>Ccc,7,92,0,116
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF273,10793,7,64383765,64383765,Intron,SNP,T,C,,6,141,0,50
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF92,168374,7,64863687,64863687,Silent,SNP,G,A,c.(658-660)aaG>aaA,6,124,0,125
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RABGEF1,27342,7,66261815,66261815,3'UTR,SNP,C,T,,6,46,0,30
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TRIM50,135892,7,72727369,72727369,Missense_Mutation,SNP,C,T,c.(1012-1014)Gtc>Atc,7,222,0,168
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,WBSCR16,81554,7,74482596,74482596,Missense_Mutation,SNP,T,C,c.(463-465)tAc>tGc,5,27,0,70
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SEMA3D,223117,7,84628837,84628837,Silent,SNP,C,T,c.(2251-2253)aaG>aaA,6,121,0,188
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,COL1A2,1278,7,94040465,94040465,Splice_Site,SNP,G,A,c.(1348-1350)aGa>aAa,6,217,0,219
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TECPR1,25851,7,97856071,97856071,Intron,SNP,T,C,,5,173,0,38
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TAF6,6878,7,99711773,99711773,Silent,SNP,C,T,c.(58-60)aaG>aaA,7,146,0,166
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MEPCE,56257,7,100030649,100030649,Silent,SNP,C,T,c.(1777-1779)gaC>gaT,8,529,0,197
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZAN,7455,7,100349941,100349941,RNA,SNP,C,T,,5,33,0,97
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PRKRIP1,79706,7,102063664,102063664,Intron,SNP,T,C,,4,25,0,20
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,LRWD1,222229,7,102106365,102106365,Missense_Mutation,SNP,C,T,c.(181-183)aCg>aTg,8,506,0,265
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CTTNBP2,83992,7,117365099,117365099,Intron,SNP,C,T,,4,16,0,97
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,METTL2B,55798,7,128142724,128142724,3'UTR,SNP,G,A,,4,33,0,38
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,METTL2B,55798,7,128142728,128142728,3'UTR,SNP,A,G,,5,23,0,36
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TBXAS1,6916,7,139657569,139657569,Intron,SNP,G,A,,6,200,1,191
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,Unknown,0,7,143839536,143839536,IGR,SNP,C,T,,4,35,0,85
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KRBA1,84626,7,149430599,149430599,Silent,SNP,C,T,c.(2371-2373)tcC>tcT,4,32,0,119
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF775,285971,7,150095147,150095147,Silent,SNP,G,A,c.(1576-1578)gcG>gcA,7,417,0,219
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ABCB8,11194,7,150738259,150738259,Silent,SNP,G,A,c.(1606-1608)cgG>cgA,5,176,0,104
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RBM33,155435,7,155532422,155532422,Missense_Mutation,SNP,C,T,c.(1750-1752)cCt>cTt,4,72,1,54
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,AC021218.2,0,7,155755705,155755705,Missense_Mutation,SNP,G,A,c.(181-183)tGc>tAc,5,30,0,55
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,UBE3C,9690,7,156994441,156994441,Missense_Mutation,SNP,C,T,c.(1357-1359)gCc>gTc,4,70,0,59
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,Unknown,0,8,2148826,2148826,IGR,SNP,G,A,,5,139,0,157
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,LPL,4023,8,19819698,19819698,Silent,SNP,C,T,c.(1393-1395)tgC>tgT,5,85,0,197
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GPR124,25960,8,37693289,37693289,Splice_Site,SNP,G,A,c.e13+1,4,13,0,62
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CSPP1,79848,8,67987139,67987139,Intron,SNP,A,C,,4,12,0,24
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,XKR9,389668,8,71595750,71595750,Intron,SNP,C,T,,7,185,0,93
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZFHX4,79776,8,77766465,77766465,Silent,SNP,G,A,c.(7306-7308)tcG>tcA,29,60,0,116
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FBXO43,286151,8,101154214,101154214,Missense_Mutation,SNP,C,T,c.(268-270)Gat>Aat,5,38,0,34
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RIMS2,9699,8,105257228,105257228,Missense_Mutation,SNP,G,A,c.(3472-3474)cGa>cAa,6,309,0,114
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ENY2,56943,8,110354930,110354930,Missense_Mutation,SNP,G,A,c.(226-228)Gcc>Acc,9,254,0,114
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ENY2,56943,8,110354939,110354939,Missense_Mutation,SNP,C,G,c.(235-237)Ccc>Gcc,6,249,0,111
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KLHL38,340359,8,124658197,124658197,Missense_Mutation,SNP,G,A,c.(1528-1530)Cgg>Tgg,6,224,0,171
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GPR20,2843,8,142367285,142367285,Missense_Mutation,SNP,G,A,c.(739-741)Ctc>Ttc,7,331,0,126
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PUF60,22827,8,144898719,144898719,Missense_Mutation,SNP,G,A,c.(1651-1653)Cgt>Tgt,8,39,0,41
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PARP10,84875,8,145052137,145052137,Missense_Mutation,SNP,G,A,c.(2668-2670)aCg>aTg,7,431,0,155
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ADCK5,203054,8,145617797,145617797,Missense_Mutation,SNP,G,A,c.(1405-1407)Gtg>Atg,8,363,0,188
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,C8orf82,414919,8,145753268,145753268,Intron,SNP,G,A,,9,270,0,74
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CNTLN,54875,9,17494929,17494929,Missense_Mutation,SNP,A,G,c.(4144-4146)Aag>Gag,6,168,0,74
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RPS6,6194,9,19378359,19378359,Intron,SNP,C,T,,5,58,1,52
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CDKN2A,1029,9,21967396,21967396,IGR,SNP,G,A,,5,49,0,87
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SIGMAR1,10280,9,34635782,34635782,Silent,SNP,G,A,c.(517-519)taC>taT,7,233,0,178
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DNAJB5,25822,9,34990414,34990414,5'UTR,SNP,C,T,,6,248,0,152
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TRPM6,140803,9,77490160,77490160,Intron,SNP,C,T,,4,84,0,57
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SECISBP2,79048,9,91961895,91961895,Missense_Mutation,SNP,G,A,c.(1534-1536)Gcc>Acc,6,292,0,356
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SPTLC1,10558,9,94877613,94877613,Missense_Mutation,SNP,C,T,c.(40-42)Gta>Ata,7,384,0,209
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,AAED1,195827,9,99417390,99417390,Silent,SNP,G,A,c.(172-174)gcC>gcT,6,160,0,47
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,AKAP2,11217,9,112900363,112900363,Missense_Mutation,SNP,G,A,c.(1846-1848)Ggc>Agc,9,60,0,99
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DFNB31,25861,9,117165552,117165552,Missense_Mutation,SNP,G,A,c.(2485-2487)gCc>gTc,73,168,0,171
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DENND1A,57706,9,126217023,126217023,Missense_Mutation,SNP,C,T,c.(1222-1224)Gtc>Atc,6,91,0,110
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SARDH,1757,9,136590544,136590544,Intron,SNP,T,C,,4,6,0,15
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,COL5A1,1289,9,137703452,137703452,Intron,SNP,G,A,,6,96,0,158
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SNAPC4,6621,9,139288709,139288709,Silent,SNP,C,T,c.(622-624)aaG>aaA,6,130,0,103
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,C9orf142,286257,9,139888077,139888077,Missense_Mutation,SNP,G,A,c.(535-537)cGg>cAg,6,351,0,147
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MAN1B1,11253,9,140002945,140002945,Silent,SNP,C,T,c.(2002-2004)Ctg>Ttg,6,165,0,229
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,EHMT1,79813,9,140591626,140591626,Intron,SNP,G,A,,5,57,0,30
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,EHMT1,79813,9,140676806,140676806,Missense_Mutation,SNP,C,T,c.(2338-2340)gCg>gTg,6,223,0,162
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NET1,10276,10,5498201,5498201,Missense_Mutation,SNP,G,A,c.(1348-1350)gGc>gAc,6,132,0,57
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PTPLA,9200,10,17657928,17657928,Intron,SNP,A,C,,4,67,0,37
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ACBD5,91452,10,27484857,27484857,IGR,SNP,T,C,,4,39,0,17
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ARMC4,55130,10,28142218,28142218,Intron,SNP,T,C,,4,37,0,20
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ARMC4,55130,10,28233164,28233164,Missense_Mutation,SNP,C,T,c.(1729-1731)gGt>gAt,5,82,0,70
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GDF10,2662,10,48429054,48429054,Missense_Mutation,SNP,C,T,c.(832-834)Gca>Aca,10,27,0,87
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KAT6B,23522,10,76781680,76781680,Silent,SNP,G,A,c.(3061-3063)gaG>gaA,7,247,0,167
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CYP2C9,1559,10,96702021,96702021,Missense_Mutation,SNP,G,A,c.(403-405)gGg>gAg,5,120,0,265
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,EXOSC1,51013,10,99203020,99203020,Missense_Mutation,SNP,C,T,c.(196-198)Gat>Aat,5,72,0,50
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KAZALD1,81621,10,102822595,102822595,Silent,SNP,C,T,c.(244-246)tgC>tgT,6,105,0,122
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,C10orf95,79946,10,104213862,104213862,5'Flank,SNP,G,A,,6,31,0,30
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,VWA2,340706,10,116049220,116049220,Silent,SNP,G,A,c.(2092-2094)caG>caA,6,104,1,109
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ATRNL1,26033,10,117357169,117357169,Intron,SNP,G,A,,8,217,0,142
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TACC2,10579,10,123969921,123969921,Missense_Mutation,SNP,C,T,c.(5980-5982)tCt>tTt,6,84,1,110
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TUBGCP2,10844,10,135111508,135111508,Silent,SNP,G,A,c.(562-564)atC>atT,6,117,0,119
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,C11orf35,0,11,557018,557018,Missense_Mutation,SNP,C,T,c.(793-795)Gtg>Atg,6,251,0,129
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PIDD,0,11,804280,804280,Missense_Mutation,SNP,G,A,c.(109-111)Cgg>Tgg,8,230,0,136
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,AP2A2,161,11,992582,992582,Missense_Mutation,SNP,G,A,c.(1348-1350)cGa>cAa,7,239,0,182
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MUC2,4583,11,1102527,1102527,Silent,SNP,G,A,c.(7909-7911)cgG>cgA,5,102,0,86
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF195,7748,11,3383112,3383112,Silent,SNP,T,C,c.(232-234)ggA>ggG,3,10,0,44
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF195,7748,11,3388243,3388243,Intron,SNP,T,C,,4,63,0,84
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RRM1,6240,11,4126848,4126848,Intron,SNP,C,T,,6,62,0,33
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DNHD1,144132,11,6579840,6579840,Missense_Mutation,SNP,G,A,c.(9127-9129)cGc>cAc,5,160,0,198
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DCHS1,8642,11,6651066,6651066,Silent,SNP,G,A,c.(4870-4872)caC>caT,9,294,0,182
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ARNTL,406,11,13395689,13395689,Missense_Mutation,SNP,C,T,c.(1114-1116)tCg>tTg,4,84,0,85
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RPS13,6207,11,17098025,17098025,Intron,SNP,T,C,,5,39,0,13
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PEX16,9409,11,45937307,45937307,Silent,SNP,C,T,c.(304-306)aaG>aaA,7,163,0,115
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PSMC3,5702,11,47440488,47440488,Silent,SNP,G,A,c.(1216-1218)atC>atT,6,128,0,114
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TMEM132A,54972,11,60692203,60692203,Missense_Mutation,SNP,G,A,c.(97-99)aGa>aAa,5,78,0,102
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,VWCE,220001,11,61045885,61045885,Missense_Mutation,SNP,C,T,c.(1387-1389)tGc>tAc,5,98,0,106
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SLC3A2,6520,11,62638243,62638243,Missense_Mutation,SNP,A,G,c.(139-141)Act>Gct,6,108,0,27
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CCDC88B,283234,11,64120518,64120518,Intron,SNP,C,T,,4,44,0,36
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SF1,7536,11,64536904,64536904,Silent,SNP,C,T,c.(655-657)gtG>gtA,5,55,0,59
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ATG2A,23130,11,64677280,64677280,Silent,SNP,C,T,c.(1978-1980)gcG>gcA,6,281,0,198
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SYVN1,84447,11,64900944,64900944,Missense_Mutation,SNP,C,T,c.(127-129)atG>atA,4,50,0,53
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SCYL1,57410,11,65305981,65305981,Missense_Mutation,SNP,G,A,c.(2371-2373)Gcc>Acc,7,327,0,89
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SSH3,54961,11,67072270,67072270,Missense_Mutation,SNP,C,T,c.(130-132)gCt>gTt,6,115,0,138
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ALDH3B2,222,11,67432756,67432756,Splice_Site,SNP,C,T,c.(706-708)Gcc>Acc,3,8,0,26
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MRGPRF,116535,11,68772955,68772955,Missense_Mutation,SNP,C,T,c.(823-825)Gtc>Atc,5,64,0,97
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SHANK2,22941,11,70754057,70754057,Intron,SNP,C,T,,6,127,0,80
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GAB2,9846,11,77937500,77937500,Intron,SNP,C,T,,5,71,0,93
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SYTL2,54843,11,85419139,85419139,Intron,SNP,A,G,,6,160,1,53
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GRM5,2915,11,88658961,88658961,Intron,SNP,T,C,,5,115,0,80
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CUL5,8065,11,107920749,107920749,Missense_Mutation,SNP,G,A,c.(367-369)Ggc>Agc,4,50,0,61
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,BCL9L,283149,11,118771497,118771497,Silent,SNP,G,A,c.(2953-2955)gtC>gtT,6,123,0,84
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,OR6T1,219874,11,123814486,123814486,Silent,SNP,G,A,c.(58-60)agC>agT,4,36,0,64
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KIRREL3,84623,11,126301345,126301345,Silent,SNP,G,A,c.(1663-1665)atC>atT,6,205,0,140
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CACNA1C,775,12,2791226,2791226,Intron,SNP,G,T,,4,7,0,42
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NOP2,4839,12,6667249,6667249,Intron,SNP,A,G,,14,162,0,66
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NOP2,4839,12,6667283,6667283,Intron,SNP,A,G,,6,251,0,71
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PLEKHA5,54477,12,19475456,19475456,Missense_Mutation,SNP,C,T,c.(1993-1995)aCg>aTg,5,56,0,50
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ITPR2,3709,12,26493163,26493163,Silent,SNP,C,T,c.(7954-7956)aaG>aaA,5,101,0,58
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,STK38L,23012,12,27465498,27465498,Missense_Mutation,SNP,C,T,c.(409-411)gCa>gTa,5,97,0,63
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SLC2A13,114134,12,40345058,40345058,Splice_Site,SNP,C,T,c.e4+1,6,116,0,90
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,LRRK2,120892,12,40703008,40703008,Silent,SNP,C,T,c.(4288-4290)gcC>gcT,5,109,0,92
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SCAF11,9169,12,46322118,46322118,Missense_Mutation,SNP,C,T,c.(1366-1368)Gaa>Aaa,4,31,0,36
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DDX23,9416,12,49237713,49237713,Intron,SNP,C,T,,4,49,0,55
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GALNT6,11226,12,51773530,51773530,Silent,SNP,G,A,c.(34-36)cgC>cgT,4,18,0,75
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SCN8A,6334,12,52115405,52115405,Missense_Mutation,SNP,C,T,c.(1711-1713)Cct>Tct,5,59,0,101
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,EIF4B,1975,12,53432132,53432132,Intron,SNP,C,T,,4,47,0,15
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NPFF,8620,12,53898265,53898265,IGR,SNP,C,T,,4,59,0,28
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MYF5,4617,12,81111036,81111036,Missense_Mutation,SNP,G,T,c.(193-195)gGt>gTt,24,47,0,134
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MKRN9P,400058,12,88177900,88177900,RNA,SNP,C,T,,6,134,0,188
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,IFT81,28981,12,110605769,110605769,Intron,SNP,A,G,,3,11,0,14
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,IFT81,28981,12,110654349,110654349,Intron,SNP,A,G,,5,208,0,70
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TCTN1,79600,12,111072238,111072238,Intron,SNP,C,T,,5,85,0,60
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FAM109A,144717,12,111800592,111800592,Missense_Mutation,SNP,C,T,c.(640-642)Gca>Aca,4,62,0,65
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ACAD10,80724,12,112148092,112148092,Intron,SNP,G,A,,8,284,0,88
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,HECTD4,283450,12,112686210,112686210,Missense_Mutation,SNP,C,T,c.(2791-2793)Gaa>Aaa,4,51,0,27
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CCDC64,92558,12,120428012,120428012,Missense_Mutation,SNP,G,A,c.(340-342)Gcc>Acc,7,411,0,303
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DCLK1,9201,13,36424904,36424904,Intron,SNP,G,A,,4,38,0,22
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NEK5,341676,13,52686403,52686403,Splice_Site,SNP,C,T,c.e5+1,4,24,0,27
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SUGT1,10910,13,53235626,53235626,Silent,SNP,T,C,c.(343-345)caT>caC,4,6,0,21
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DZIP1,22873,13,96293610,96293610,Missense_Mutation,SNP,C,T,c.(535-537)cGc>cAc,5,96,0,71
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DOCK9,23348,13,99537683,99537683,Intron,SNP,T,C,,8,106,0,25
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RASA3,22821,13,114782808,114782808,Nonsense_Mutation,SNP,G,A,c.(1111-1113)Cga>Tga,31,95,0,133
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DTD2,112487,14,31926599,31926599,Start_Codon_SNP,SNP,T,C,c.(1-3)Atg>Gtg,5,30,0,29
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FOXA1,3169,14,38060678,38060678,Silent,SNP,C,A,c.(1309-1311)ctG>ctT,11,521,0,250
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,LRR1,122769,14,50065356,50065356,5'Flank,SNP,G,T,,81,223,0,174
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KLHDC1,122773,14,50166831,50166831,Intron,SNP,G,A,,4,11,0,9
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DDHD1,80821,14,53529660,53529660,Splice_Site,SNP,C,T,c.e7+1,5,24,0,71
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,WDHD1,11169,14,55462453,55462453,Missense_Mutation,SNP,C,T,c.(1021-1023)Gac>Aac,4,22,0,43
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SPTB,6710,14,65253661,65253661,Nonsense_Mutation,SNP,G,A,c.(3022-3024)Cag>Tag,4,50,0,124
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FOS,2353,14,75746870,75746870,Intron,SNP,G,A,,9,253,0,94
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TTC8,123016,14,89303297,89303297,Intron,SNP,T,C,,4,24,0,8
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RPS6KA5,9252,14,91518727,91518727,Intron,SNP,A,G,,7,100,0,24
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TC2N,123036,14,92278655,92278655,Splice_Site,SNP,C,T,c.e3+1,4,21,0,36
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CHGA,1113,14,93401237,93401237,3'UTR,SNP,G,A,,4,16,0,71
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PPP2R5C,5527,14,102384170,102384170,Silent,SNP,C,T,c.(1327-1329)taC>taT,7,55,0,74
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF839,55778,14,102792761,102792761,Missense_Mutation,SNP,C,T,c.(379-381)tCg>tTg,7,101,0,85
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TRAF3,7187,14,103363602,103363602,Missense_Mutation,SNP,C,T,c.(823-825)tCc>tTc,6,142,0,105
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,XRCC3,7517,14,104178034,104178034,5'UTR,SNP,C,T,,5,159,0,104
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,BTBD6,90135,14,105716590,105716590,Missense_Mutation,SNP,C,T,c.(1039-1041)Cgc>Tgc,6,316,0,190
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SNRPN,6638,15,25222039,25222039,Missense_Mutation,SNP,G,T,c.(283-285)Gta>Tta,5,75,0,108
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SNHG14,0,15,25319356,25319356,RNA,SNP,G,A,,4,36,0,38
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GOLGA8R,101059918,15,30700162,30700162,Missense_Mutation,SNP,G,A,c.(820-822)Cgt>Tgt,6,218,1,325
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PLCB2,5330,15,40596214,40596214,Silent,SNP,C,T,c.(148-150)acG>acA,4,47,0,42
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KNSTRN,90417,15,40681442,40681442,Intron,SNP,T,C,,5,66,0,28
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KNSTRN,90417,15,40681443,40681443,Intron,SNP,G,A,,5,63,0,27
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PPIP5K1,9677,15,43828381,43828381,Intron,SNP,C,T,,4,24,0,46
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TRPM7,54822,15,50884670,50884670,Silent,SNP,C,T,c.(3760-3762)gcG>gcA,6,142,0,119
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,VPS13C,54832,15,62204170,62204170,Missense_Mutation,SNP,G,A,c.(8584-8586)Ctt>Ttt,4,38,0,46
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MTFMT,123263,15,65321856,65321856,Silent,SNP,G,A,c.(94-96)ctC>ctT,7,237,0,125
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,AAGAB,79719,15,67500948,67500948,Missense_Mutation,SNP,G,A,c.(667-669)Cgg>Tgg,5,146,0,103
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ST20,400410,15,80215738,80215738,Intron,SNP,C,T,,5,167,0,93
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MFGE8,4240,15,89444777,89444777,Intron,SNP,C,A,,21,50,0,100
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TICRR,90381,15,90118887,90118887,Missense_Mutation,SNP,C,T,c.(70-72)Cgg>Tgg,5,90,0,98
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ARRDC4,91947,15,98504117,98504117,Missense_Mutation,SNP,C,T,c.(25-27)gCg>gTg,4,29,0,38
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DNM1P46,196968,15,100330594,100330594,RNA,SNP,C,T,,6,53,0,36
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,WDR90,197335,16,715618,715618,Intron,SNP,C,T,,6,181,0,81
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TRAP1,10131,16,3725389,3725389,Missense_Mutation,SNP,G,A,c.(823-825)aCg>aTg,5,113,0,82
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,C16orf89,146556,16,5094809,5094809,Silent,SNP,T,C,c.(982-984)gtA>gtG,5,94,0,55
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PARN,5073,16,14726255,14726255,5'Flank,SNP,G,C,,12,369,0,77
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,BFAR,51283,16,14762887,14762887,3'UTR,SNP,C,T,,4,62,0,51
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ABCC1,4363,16,16110473,16110473,Missense_Mutation,SNP,G,A,c.(610-612)Gac>Aac,5,94,0,32
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ABCC6,368,16,16248656,16248656,Intron,SNP,C,T,,5,84,0,196
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ABCC6,368,16,16251532,16251532,Silent,SNP,G,A,c.(3868-3870)caC>caT,5,184,1,174
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,IL21R,50615,16,27460521,27460521,Missense_Mutation,SNP,G,A,c.(1534-1536)Gac>Aac,5,77,0,85
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KIAA0556,23247,16,27585264,27585264,Missense_Mutation,SNP,G,A,c.(49-51)cGa>cAa,6,278,0,127
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KCTD13,253980,16,29937182,29937182,Missense_Mutation,SNP,G,A,c.(172-174)aCc>aTc,7,323,0,254
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,BCKDK,10295,16,31121756,31121756,Missense_Mutation,SNP,C,T,c.(577-579)aCg>aTg,8,256,0,152
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FUS,2521,16,31204460,31204460,IGR,SNP,T,A,,5,33,0,54
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF843,283933,16,31446201,31446201,IGR,SNP,T,C,,5,19,0,14
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RPGRIP1L,23322,16,53656211,53656211,Missense_Mutation,SNP,A,G,c.(3352-3354)Ttc>Ctc,7,93,0,45
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,IRX6,79190,16,55362807,55362807,Missense_Mutation,SNP,G,A,c.(916-918)cGc>cAc,25,28,0,129
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RLTPR,146206,16,67685168,67685168,Missense_Mutation,SNP,G,A,c.(2263-2265)Gct>Act,6,144,0,100
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CENPT,80152,16,67866224,67866224,Intron,SNP,G,A,,6,151,0,110
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PKD1L3,342372,16,72020266,72020266,RNA,SNP,G,A,,5,229,0,173
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PSMD7,5713,16,74333480,74333480,Intron,SNP,G,A,,11,248,0,76
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GABARAPL2,11345,16,75611198,75611198,Silent,SNP,C,T,c.(283-285)taC>taT,5,113,0,79
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZDHHC7,55625,16,85015591,85015591,Missense_Mutation,SNP,G,A,c.(325-327)Ccc>Tcc,6,118,0,100
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ANKRD11,29123,16,89346574,89346574,Missense_Mutation,SNP,C,T,c.(6376-6378)Ggc>Agc,5,89,0,85
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,AFG3L1P,172,16,90046696,90046696,RNA,SNP,G,A,,5,142,0,90
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TRPV1,7442,17,3491556,3491556,Missense_Mutation,SNP,C,T,c.(1150-1152)Gac>Aac,5,116,0,100
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ENO3,2027,17,4859914,4859914,Missense_Mutation,SNP,C,T,c.(1114-1116)Cgc>Tgc,5,132,0,195
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GPS2,2874,17,7216969,7216969,Silent,SNP,A,C,c.(550-552)ccT>ccG,19,144,0,86
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GPS2,2874,17,7216971,7216971,Missense_Mutation,SNP,G,A,c.(550-552)Cct>Tct,19,147,0,88
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NTN1,9423,17,9086254,9086254,Missense_Mutation,SNP,C,T,c.(1378-1380)aCg>aTg,5,184,0,140
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ATAD5,79915,17,29161340,29161340,Missense_Mutation,SNP,G,A,c.(241-243)Gag>Aag,4,46,0,46
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SLFN12L,100506736,17,33814829,33814829,5'UTR,SNP,C,T,,8,262,0,201
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RP11-1094M14.11,0,17,33897854,33897854,lincRNA,SNP,T,C,,6,183,0,43
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ERBB2,2064,17,37881994,37881994,Silent,SNP,C,T,c.(2758-2760)gcC>gcT,5,34,0,51
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,WNK4,65266,17,40948659,40948659,Intron,SNP,C,T,,5,179,0,136
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,EPX,8288,17,56271402,56271402,Silent,SNP,C,T,c.(541-543)ctC>ctT,5,151,0,193
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TBC1D3P1-DHX40P1,653645,17,58088923,58088923,lincRNA,SNP,A,G,,4,113,0,271
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SDK2,54549,17,71375323,71375323,Missense_Mutation,SNP,C,T,c.(4972-4974)gGg>gAg,4,62,0,57
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CD300LD,100131439,17,72578357,72578357,Splice_Site,SNP,C,T,c.(472-474)aGg>aAg,4,39,0,47
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MRPS7,51081,17,73259497,73259497,Missense_Mutation,SNP,G,A,c.(415-417)cGc>cAc,6,257,0,122
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RHBDF2,79651,17,74469153,74469153,Missense_Mutation,SNP,G,A,c.(1930-1932)cCc>cTc,4,56,0,69
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CCDC40,55036,17,78064157,78064157,Intron,SNP,A,G,,9,442,1,226
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SIRT7,51547,17,79872399,79872399,Missense_Mutation,SNP,G,A,c.(586-588)aCc>aTc,6,132,0,126
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,LPIN2,9663,18,2920775,2920775,Splice_Site,SNP,C,T,c.e19+1,6,274,0,184
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,EPB41L3,23136,18,5415995,5415995,Missense_Mutation,SNP,G,A,c.(1888-1890)cCg>cTg,5,56,0,70
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SOGA2,0,18,8784099,8784099,Missense_Mutation,SNP,G,A,c.(2068-2070)gGt>gAt,4,42,0,114
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RALBP1,10928,18,9536614,9536614,3'UTR,SNP,C,T,,4,43,0,33
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CEP192,55125,18,13042338,13042338,Intron,SNP,C,T,,4,49,0,44
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,INO80C,125476,18,33077740,33077740,Silent,SNP,G,A,c.(97-99)agC>agT,6,281,0,110
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SETBP1,26040,18,42530829,42530829,Silent,SNP,G,A,c.(1522-1524)acG>acA,5,166,0,280
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF236,7776,18,74611040,74611040,Missense_Mutation,SNP,C,T,c.(1750-1752)Cac>Tac,16,50,0,71
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NFATC1,4772,18,77211733,77211733,Missense_Mutation,SNP,C,T,c.(1819-1821)cCg>cTg,5,65,0,57
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MBD3,53615,19,1575257,1575257,IGR,SNP,T,C,,6,44,0,42
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DOT1L,84444,19,2227888,2227888,Intron,SNP,G,A,,5,98,0,148
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GNG7,2788,19,2642772,2642772,Intron,SNP,G,A,,3,19,0,76
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DOHH,83475,19,3491816,3491816,Intron,SNP,G,A,,5,40,0,49
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DAPK3,1613,19,3961142,3961142,Missense_Mutation,SNP,G,A,c.(646-648)cCg>cTg,4,62,0,63
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SLC44A2,57153,19,10748897,10748897,Intron,SNP,C,T,,5,93,0,112
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SMARCA4,6597,19,11169536,11169536,Missense_Mutation,SNP,G,A,c.(4606-4608)Gca>Aca,6,148,0,163
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF878,729747,19,12155691,12155691,Silent,SNP,C,T,c.(523-525)caG>caA,6,120,0,168
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF709,163051,19,12661326,12661326,Intron,SNP,C,T,,6,255,0,36
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,OR7C2,26658,19,15052863,15052863,Missense_Mutation,SNP,C,T,c.(562-564)gCc>gTc,11,33,0,134
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GDF15,9518,19,18499344,18499344,Missense_Mutation,SNP,G,A,c.(526-528)Gca>Aca,7,319,0,256
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF714,148206,19,21300774,21300774,Missense_Mutation,SNP,G,A,c.(1303-1305)cGa>cAa,7,202,0,174
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF676,163223,19,22363039,22363039,Missense_Mutation,SNP,T,C,c.(1480-1482)Aaa>Gaa,6,66,1,153
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF726,730087,19,24116580,24116580,Silent,SNP,A,G,c.(1660-1662)acA>acG,5,53,0,139
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,WDR88,126248,19,33623086,33623086,Missense_Mutation,SNP,C,T,c.(10-12)cCg>cTg,3,11,0,42
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ATP4A,495,19,36045886,36045886,Missense_Mutation,SNP,C,A,c.(2419-2421)Gtc>Ttc,4,59,0,87
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF850,342892,19,37239593,37239593,Silent,SNP,C,T,c.(2347-2349)aaG>aaA,5,91,0,114
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF569,148266,19,37958825,37958825,5'Flank,SNP,G,A,,7,330,0,67
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NFKBIB,4793,19,39398034,39398034,Intron,SNP,C,A,,2,0,0,35
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,EGLN2,112398,19,41306983,41306983,Missense_Mutation,SNP,C,T,c.(505-507)gCg>gTg,7,395,0,212
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CEACAM1,634,19,43020934,43020934,Intron,SNP,T,C,,4,26,0,23
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CEACAM1,634,19,43020964,43020964,Intron,SNP,T,C,,5,65,0,39
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PSG4,5672,19,43699219,43699219,Missense_Mutation,SNP,C,T,c.(916-918)Gga>Aga,5,57,1,165
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KCNN4,3783,19,44278444,44278444,Missense_Mutation,SNP,C,T,c.(583-585)Gtg>Atg,7,268,0,159
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PRKD2,25865,19,47197162,47197162,Missense_Mutation,SNP,C,T,c.(1546-1548)Gca>Aca,4,29,0,73
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DHX34,9704,19,47885232,47885232,Intron,SNP,C,T,,6,103,0,120
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GLTSCR2,29997,19,48259182,48259182,Intron,SNP,G,A,,3,2,0,39
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,LIG1,3978,19,48618978,48618978,Silent,SNP,C,T,c.(2686-2688)ttG>ttA,5,141,1,196
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CCDC114,93233,19,48814830,48814830,Missense_Mutation,SNP,C,T,c.(466-468)Gtg>Atg,5,134,0,106
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TULP2,7288,19,49385387,49385387,Missense_Mutation,SNP,G,A,c.(1348-1350)cCg>cTg,9,445,0,181
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,BAX,581,19,49463536,49463536,Intron,SNP,T,C,,6,243,0,62
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,HRC,3270,19,49656937,49656937,Missense_Mutation,SNP,C,T,c.(1558-1560)Gag>Aag,6,145,0,83
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF701,55762,19,53086622,53086622,Missense_Mutation,SNP,C,G,c.(1507-1509)cCt>cGt,4,91,0,110
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF579,163033,19,56089475,56089475,Missense_Mutation,SNP,G,A,c.(1531-1533)Ccg>Tcg,4,14,0,50
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF835,90485,19,57175885,57175885,Missense_Mutation,SNP,C,T,c.(682-684)Gcc>Acc,6,139,0,192
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ADRA1D,146,20,4228906,4228906,Silent,SNP,C,T,c.(697-699)ctG>ctA,4,42,0,105
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MCM8,84515,20,5953323,5953323,Intron,SNP,G,C,,6,200,0,63
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GZF1,64412,20,23346128,23346128,Missense_Mutation,SNP,G,A,c.(1108-1110)Gtg>Atg,6,190,0,114
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF337,26152,20,25656763,25656763,Silent,SNP,C,T,c.(1159-1161)gtG>gtA,5,50,0,95
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ASXL1,171023,20,31017210,31017210,Missense_Mutation,SNP,G,A,c.(541-543)Ggg>Agg,8,225,0,196
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZNF341,84905,20,32333009,32333009,Silent,SNP,C,T,c.(241-243)ccC>ccT,20,89,0,91
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NCOA6,23054,20,33324486,33324486,Intron,SNP,C,T,,4,30,0,19
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NFS1,9054,20,34280195,34280195,Intron,SNP,A,C,,4,48,0,20
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CTNNBL1,56259,20,36361406,36361406,Silent,SNP,G,A,c.(154-156)gcG>gcA,5,189,0,91
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SLC32A1,140679,20,37357244,37357244,Missense_Mutation,SNP,G,A,c.(1540-1542)Ggc>Agc,4,28,0,52
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ADA,100,20,43249032,43249032,Missense_Mutation,SNP,G,A,c.(985-987)gCg>gTg,5,181,0,231
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZMYND8,23613,20,45865063,45865063,Intron,SNP,C,T,,5,110,0,53
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,BCAS4,55653,20,49492574,49492574,Missense_Mutation,SNP,G,A,c.(529-531)cGc>cAc,15,58,0,73
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ATP9A,10079,20,50292705,50292705,Missense_Mutation,SNP,C,T,c.(841-843)cGg>cAg,6,118,0,90
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PHACTR3,116154,20,58330310,58330310,Silent,SNP,G,A,c.(430-432)tcG>tcA,30,89,0,154
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DNAJC5,80331,20,62551225,62551225,Intron,SNP,C,G,,7,282,1,390
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MYT1,4661,20,62858759,62858759,Intron,SNP,C,T,,5,95,0,73
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SON,6651,21,34925729,34925729,Missense_Mutation,SNP,G,A,c.(4192-4194)Gct>Act,5,65,0,103
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ITSN1,6453,21,35237604,35237604,Missense_Mutation,SNP,C,T,c.(4039-4041)aCg>aTg,4,36,0,32
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PRDM15,63977,21,43259841,43259841,Silent,SNP,G,A,c.(1858-1860)agC>agT,6,214,0,193
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,UBASH3A,53347,21,43864669,43864669,Silent,SNP,C,T,c.(1762-1764)caC>caT,7,183,0,115
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PKNOX1,5316,21,44452249,44452249,3'UTR,SNP,T,C,,8,89,0,42
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ATP6V1E1,529,22,18101797,18101797,Intron,SNP,T,C,,5,90,0,68
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ATP6V1E1,529,22,18101798,18101798,Intron,SNP,A,G,,6,90,0,68
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,DGCR2,9993,22,19076878,19076878,Intron,SNP,C,T,,4,36,0,38
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TBX1,6899,22,19754060,19754060,Intron,SNP,C,T,,4,13,0,38
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,THAP7,80764,22,21357070,21357070,5'Flank,SNP,A,G,,4,79,0,49
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PRAME,23532,22,22893337,22893337,Missense_Mutation,SNP,T,G,c.(196-198)Agc>Cgc,7,39,0,109
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PRAME,23532,22,22893338,22893338,Missense_Mutation,SNP,G,T,c.(193-195)caC>caA,7,41,0,106
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GGT5,2687,22,24616637,24616637,Intron,SNP,C,G,,6,197,0,136
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TOM1,10043,22,35730353,35730353,Nonsense_Mutation,SNP,C,T,c.(1060-1062)Cag>Tag,6,69,0,95
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TRIOBP,11078,22,38150897,38150897,Missense_Mutation,SNP,C,T,c.(5392-5394)tCg>tTg,6,212,0,177
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TAB1,10454,22,39826125,39826125,Silent,SNP,G,A,c.(1411-1413)ccG>ccA,8,297,0,201
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CYP2D6,1565,22,42524851,42524851,Missense_Mutation,SNP,G,A,c.(601-603)Cgc>Tgc,8,270,0,400
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PACSIN2,11252,22,43272306,43272306,Silent,SNP,G,A,c.(1183-1185)ccC>ccT,4,42,0,53
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MCAT,27349,22,43533253,43533253,Missense_Mutation,SNP,G,A,c.(562-564)gCt>gTt,5,70,0,81
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TBC1D22A,25771,22,47188481,47188481,Intron,SNP,A,T,,5,118,0,104
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SCO2,9997,22,50962103,50962103,Silent,SNP,C,T,c.(736-738)tcG>tcA,6,235,0,209
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PRPS2,5634,X,12827361,12827361,Silent,SNP,C,T,c.(313-315)gcC>gcT,4,42,0,48
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,BEND2,139105,X,18231976,18231976,Silent,SNP,C,T,c.(292-294)caG>caA,4,18,0,13
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CXorf67,340602,X,51150108,51150108,Silent,SNP,C,T,c.(238-240)acC>acT,4,59,0,79
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,P2RY4,5030,X,69478441,69478441,Missense_Mutation,SNP,C,T,c.(1033-1035)aGc>aAc,4,19,0,37
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KIF4A,24137,X,69573645,69573645,Silent,SNP,G,A,c.(1660-1662)caG>caA,4,8,0,32
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,XIST,7503,X,73065904,73065904,lincRNA,SNP,G,A,,3,4,0,43
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,POU3F4,5456,X,82763782,82763782,Silent,SNP,C,T,c.(448-450)ctC>ctT,4,32,0,104
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KLHL4,56062,X,86869434,86869434,Intron,SNP,C,T,,3,3,0,19
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,HTR2C,3358,X,114141175,114141175,Missense_Mutation,SNP,A,G,c.(574-576)Att>Gtt,10,2,0,20
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,THOC2,57187,X,122761550,122761550,Silent,SNP,C,T,c.(2749-2751)caG>caA,3,5,0,23
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,Unknown,0,X,124455660,124455660,IGR,SNP,C,A,,4,72,1,141
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RAB33A,9363,X,129306073,129306073,Missense_Mutation,SNP,C,T,c.(37-39)Ccc>Tcc,4,51,0,23
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ARHGAP4,393,X,153187165,153187165,Silent,SNP,G,A,c.(163-165)cgC>cgT,6,129,0,116
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ATAD3C,219293,1,1387617,1387618,Intron,INS,-,T,,3,2,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,C1orf86,199990,1,2130127,2130128,Intron,INS,-,T,,3,3,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ALPL,249,1,21887806,21887809,Intron,DEL,CCCT,-,,3,8,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NIPAL3,57185,1,24780692,24780693,Intron,INS,-,T,,17,0,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SRSF4,6429,1,29475405,29475406,Frame_Shift_Ins,INS,-,A,c.(1000-1002)agcfs,3,8,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,BTBD19,149478,1,45277902,45277905,Intron,DEL,CCAA,-,,4,4,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,AXDND1,126859,1,179418320,179418326,Intron,DEL,CTTGGGT,-,,5,130,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PKP1,5317,1,201262936,201262937,Intron,INS,-,T,,3,2,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,OPTC,26254,1,203469109,203469111,Intron,DEL,CAT,-,,3,1,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SIPA1L2,57568,1,232649995,232649996,Frame_Shift_Del,DEL,GC,-,c.(1090-1092)gcafs,3,27,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SIX3,6496,2,45169146,45169147,5'UTR,INS,-,TCT,,2,2,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GALNT5,11227,2,158157200,158157201,Frame_Shift_Ins,INS,-,A,c.(2128-2130)ggtfs,3,7,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TTN,7273,2,179422954,179422954,Frame_Shift_Del,DEL,C,-,c.(82204-82206)gaafs,4,21,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,AC131097.3,0,2,242945799,242945800,RNA,INS,-,CT,,10,18,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,COL7A1,1294,3,48603170,48603171,Intron,INS,-,AC,,3,16,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,POC1A,25886,3,52159281,52159282,Intron,DEL,TG,-,,6,9,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CBLB,868,3,105421408,105421408,Intron,DEL,G,-,,1,2,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FSTL1,11167,3,120134717,120134719,Intron,DEL,GGT,-,,4,10,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FOXL2,668,3,138664365,138664365,3'UTR,DEL,C,-,,19,10,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TMEM232,642987,5,109954039,109954040,Intron,INS,-,AC,,3,5,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FBN2,2201,5,127681364,127681365,Intron,INS,-,C,,4,21,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NUP153,9972,6,17626041,17626043,In_Frame_Del,DEL,GCA,-,c.(3895-3900)tctgca>tca,5,9,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TRDN,10345,6,123594132,123594132,Frame_Shift_Del,DEL,T,-,c.(1648-1650)aagfs,14,22,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,WBSCR17,64409,7,71176924,71176924,Intron,DEL,T,-,,7,21,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,4,12,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,C7orf49,78996,7,134851410,134851411,Frame_Shift_Ins,INS,-,A,c.(424-429)gaggagfs,4,26,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SLC4A2,6522,7,150769278,150769279,Intron,INS,-,G,,2,0,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RP1L1,94137,8,10466150,10466150,Frame_Shift_Del,DEL,C,-,c.(5458-5460)gcafs,4,6,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SLC7A2,6542,8,17409229,17409230,Intron,DEL,GA,-,,0,6,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MBOAT4,619373,8,29996279,29996280,Intron,INS,-,C,,3,20,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GSR,2936,8,30537257,30537257,Intron,DEL,T,-,,3,16,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NRG1,3084,8,32607160,32607160,Intron,DEL,T,-,,4,3,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KAT6A,7994,8,41791930,41791931,In_Frame_Ins,INS,-,TGG,c.(3805-3810)gaggtg>gagCCAgtg,7,24,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,VPS13B,157680,8,100287577,100287579,Intron,DEL,AGG,-,,7,16,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,IFT74,80173,9,26980434,26980435,Intron,INS,-,TA,,3,7,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,IL11RA,3590,9,34655496,34655496,Intron,DEL,G,-,,3,26,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,VPS13A,23230,9,79966455,79966455,Intron,DEL,T,-,,6,10,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FNBP1,23048,9,132671145,132671146,Intron,INS,-,TT,,4,16,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SEC16A,9919,9,139343287,139343288,5'UTR,INS,-,CA,,4,26,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,RAB18,22931,10,27830613,27830614,3'UTR,INS,-,T,,28,69,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MUC2,4583,11,1089090,1089091,Intron,INS,-,A,,6,18,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,KRTAP5-1,387264,11,1606016,1606021,In_Frame_Del,DEL,CCTTTG,-,c.(457-465)ggcaaaggg>ggg,5,92,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NRXN2,9379,11,64419696,64419697,Intron,DEL,GA,-,,4,3,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ROBO4,54538,11,124766707,124766708,Intron,INS,-,C,,3,1,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,ST14,6768,11,130066385,130066386,Intron,DEL,AG,-,,3,9,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MUC19,283463,12,40838105,40838105,Frame_Shift_Del,DEL,A,-,c.(2686-2688)gacfs,3,9,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PAN2,9924,12,56716743,56716744,Intron,INS,-,T,,5,3,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,CCER1,196477,12,91347677,91347678,Frame_Shift_Ins,INS,-,T,c.(841-843)gagfs,4,16,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,LRRC43,254050,12,122685190,122685191,Frame_Shift_Ins,INS,-,A,c.(1603-1605)gagfs,3,18,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TMEM260,54916,14,57052456,57052457,Intron,DEL,AA,-,,0,9,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,C14orf37,145407,14,58563487,58563490,Frame_Shift_Del,DEL,GGTA,-,c.(2041-2046)taccagfs,4,28,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,TRIP11,9321,14,92493073,92493074,Intron,INS,-,A,,7,25,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,GABRG3,2567,15,27775902,27775903,Intron,INS,-,A,,3,12,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MAP1A,4130,15,43814968,43814969,Frame_Shift_Ins,INS,-,A,c.(1297-1299)gatfs,4,21,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MYO9A,4649,15,72196177,72196198,Intron,DEL,AATAAGTAAGCCCCAAAGAAAT,-,,3,3,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MKL2,57496,16,14341395,14341395,Intron,DEL,T,-,,3,1,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,C16orf62,57020,16,19638927,19638928,Intron,INS,-,T,,1,1,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,MAPT,4137,17,44087585,44087586,Intron,DEL,CA,-,,6,34,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,INSR,3643,19,7119730,7119731,Intron,DEL,TG,-,,4,3,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,NOTCH3,4854,19,15271372,15271372,3'UTR,DEL,A,-,,3,14,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,FUT1,2523,19,49254370,49254371,Frame_Shift_Ins,INS,-,A,c.(166-171)tgcctgfs,1,9,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SUN5,140732,20,31590563,31590564,Intron,INS,-,GA,,3,14,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SPECC1L,23384,22,24739609,24739612,Intron,DEL,AGTA,-,,5,2,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SLC5A1,6523,22,32480339,32480340,Intron,INS,-,G,,3,6,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,SLC16A8,23539,22,38477764,38477765,Intron,INS,-,C,,3,3,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,UPK3A,7380,22,45680911,45680911,Frame_Shift_Del,DEL,C,-,c.(16-18)gccfs,112,301,,
RP-1532_PCProject_0410_T1_v4_Exome_OnPrem,PHF6,84295,X,133548078,133548079,Intron,DEL,GA,-,,4,4,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,MMP23B,8510,1,1571811,1571811,IGR,SNP,G,A,,5,78,1,185
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,CLSTN1,22883,1,9796070,9796070,Missense_Mutation,SNP,C,A,c.(1606-1608)cGa>cTa,4,107,0,152
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PRAMEF4,400735,1,12943067,12943067,Missense_Mutation,SNP,C,T,c.(148-150)cGc>cAc,17,224,0,568
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,C1orf134,574037,1,16555384,16555384,Missense_Mutation,SNP,C,T,c.(235-237)gGt>gAt,3,17,0,44
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,CEP85,64793,1,26601542,26601542,Missense_Mutation,SNP,C,A,c.(1882-1884)Ctg>Atg,4,111,0,156
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,YTHDF2,51441,1,29069032,29069032,Missense_Mutation,SNP,C,T,c.(250-252)Ccc>Tcc,4,48,0,75
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,EIF3I,8668,1,32694164,32694164,Missense_Mutation,SNP,G,T,c.(592-594)aGg>aTg,4,105,0,134
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ZSCAN20,7579,1,33960839,33960839,Silent,SNP,A,G,c.(2893-2895)ggA>ggG,11,23,0,43
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,GRIK3,2899,1,37324776,37324776,Missense_Mutation,SNP,T,C,c.(1036-1038)aAc>aGc,4,104,0,113
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,GNL2,29889,1,38032588,38032588,Missense_Mutation,SNP,C,A,c.(2062-2064)caG>caT,5,134,1,128
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,MACF1,23499,1,39550037,39550037,Silent,SNP,G,A,c.(145-147)ctG>ctA,6,218,0,321
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,LRP8,7804,1,53742595,53742595,Missense_Mutation,SNP,C,A,c.(652-654)Ggc>Tgc,4,133,1,333
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,AL161915.1,0,1,54570345,54570345,Missense_Mutation,SNP,A,G,c.(205-207)Act>Gct,4,17,0,22
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,AP4B1,10717,1,114437860,114437860,Missense_Mutation,SNP,G,A,c.(2047-2049)Ctc>Ttc,4,108,0,160
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PBX1,5087,1,164529168,164529168,Missense_Mutation,SNP,G,A,c.(109-111)Ggc>Agc,35,56,0,93
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ILDR2,387597,1,166890473,166890473,Missense_Mutation,SNP,C,A,c.(1354-1356)cGg>cTg,4,96,0,245
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,CFHR5,81494,1,196967403,196967403,Silent,SNP,C,T,c.(1114-1116)aaC>aaT,48,142,0,127
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,EIF2D,1939,1,206784693,206784693,Missense_Mutation,SNP,G,T,c.(91-93)Ccc>Acc,4,37,0,55
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,OBSCN,84033,1,228564837,228564837,Silent,SNP,G,A,c.(23122-23124)aaG>aaA,4,90,0,173
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,HADHA,3030,2,26414248,26414248,Silent,SNP,C,A,c.(2161-2163)gtG>gtT,4,114,0,249
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,THADA,63892,2,43768339,43768339,Missense_Mutation,SNP,G,T,c.(3223-3225)Cct>Act,4,50,0,43
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,MAP3K19,80122,2,135722473,135722473,Nonsense_Mutation,SNP,G,A,c.(3934-3936)Cga>Tga,6,87,0,105
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,WIPF1,7456,2,175439981,175439981,Silent,SNP,C,T,c.(307-309)ttG>ttA,6,67,0,47
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ATF2,1386,2,175982833,175982833,Missense_Mutation,SNP,A,G,c.(331-333)tTa>tCa,11,110,0,65
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,NUP35,129401,2,184022192,184022192,Missense_Mutation,SNP,C,T,c.(559-561)tCc>tTc,35,134,0,156
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,CCDC150,284992,2,197559877,197559877,Nonsense_Mutation,SNP,C,A,c.(1615-1617)taC>taA,4,69,0,78
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,UNC80,285175,2,210787086,210787086,Missense_Mutation,SNP,C,T,c.(5443-5445)Cgt>Tgt,4,144,0,126
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,TNS1,7145,2,218682491,218682491,Missense_Mutation,SNP,C,T,c.(4252-4254)Ggc>Agc,4,49,0,96
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PTPRN,5798,2,220161044,220161044,Silent,SNP,G,A,c.(2410-2412)acC>acT,8,119,0,171
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,KAT2B,8850,3,20136783,20136783,Silent,SNP,G,A,c.(457-459)gtG>gtA,8,95,0,92
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ACAA1,30,3,38181350,38181350,5'Flank,SNP,C,T,,42,99,0,264
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,NBEAL2,23218,3,47036624,47036624,Missense_Mutation,SNP,C,A,c.(1399-1401)Ctg>Atg,4,94,0,221
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,BSN,8927,3,49697908,49697908,Intron,SNP,C,A,,2,0,0,8
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,EPHA3,2042,3,89456447,89456447,Missense_Mutation,SNP,A,T,c.(1621-1623)caA>caT,5,199,0,181
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,RPN1,6184,3,128356643,128356643,Splice_Site,SNP,T,C,c.(631-633)cAg>cGg,3,17,0,53
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,AADACL2,344752,3,151451849,151451849,Missense_Mutation,SNP,G,T,c.(25-27)gGg>gTg,5,109,0,104
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PTX3,5806,3,157155619,157155619,Missense_Mutation,SNP,G,T,c.(448-450)Gcc>Tcc,6,132,0,259
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,KIAA1211,57482,4,57182294,57182294,Missense_Mutation,SNP,G,A,c.(2626-2628)Gga>Aga,4,66,0,155
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,UGT2A1,10941,4,70513002,70513002,Missense_Mutation,SNP,C,T,c.(361-363)Gtg>Atg,55,129,0,172
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,SEC24D,9871,4,119689327,119689327,Splice_Site,SNP,C,T,c.e9+1,4,69,0,52
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,FAT4,79633,4,126239987,126239987,Silent,SNP,G,A,c.(2419-2421)gcG>gcA,7,88,0,121
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,VEGFC,7424,4,177650867,177650867,Missense_Mutation,SNP,G,A,c.(181-183)Cgg>Tgg,4,54,0,62
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,STOX2,56977,4,184930976,184930976,Silent,SNP,C,A,c.(985-987)Cgg>Agg,4,82,0,131
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ADCY2,108,5,7414739,7414739,Silent,SNP,T,C,c.(262-264)atT>atC,5,91,0,123
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PDZD2,23037,5,32077599,32077599,Missense_Mutation,SNP,C,T,c.(3568-3570)gCt>gTt,5,116,0,259
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,TRIM36,55521,5,114499457,114499457,Intron,SNP,G,A,,3,14,0,73
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,FBN2,2201,5,127685063,127685063,Missense_Mutation,SNP,C,A,c.(2965-2967)Gat>Tat,63,104,0,337
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ANKHD1,54882,5,139909060,139909060,Missense_Mutation,SNP,G,A,c.(6529-6531)Gtg>Atg,21,68,0,150
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PCDHA4,56144,5,140188315,140188315,Missense_Mutation,SNP,G,A,c.(1543-1545)Ggc>Agc,8,309,0,623
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PCDHA8,56140,5,140222962,140222962,Missense_Mutation,SNP,G,A,c.(2056-2058)Gtt>Att,5,105,0,169
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PCDHB18,54660,5,140614825,140614825,RNA,SNP,C,A,,4,63,0,86
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PHYKPL,85007,5,177651736,177651736,Intron,SNP,G,A,,4,32,0,89
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,MOCS1,4337,6,39883831,39883831,Silent,SNP,C,T,c.(562-564)gaG>gaA,6,250,0,346
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,SPACA1,81833,6,88757706,88757706,Missense_Mutation,SNP,G,A,c.(82-84)cGc>cAc,6,189,0,189
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,SLC35F1,222553,6,118556698,118556698,Nonsense_Mutation,SNP,C,T,c.(376-378)Cga>Tga,4,66,0,79
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,GRM1,2911,6,146673516,146673516,Silent,SNP,C,T,c.(1315-1317)tgC>tgT,7,461,0,468
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,T,6862,6,166571859,166571859,Missense_Mutation,SNP,C,T,c.(1252-1254)Gca>Aca,8,171,0,244
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PDGFA,5154,7,540679,540679,Intron,SNP,C,G,,5,65,0,185
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,FSCN1,6624,7,5632981,5632981,Missense_Mutation,SNP,G,T,c.(412-414)atG>atT,6,74,0,235
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,USP42,84132,7,6150760,6150760,5'UTR,SNP,G,T,,4,43,0,81
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,WIPF3,644150,7,29918669,29918669,Nonsense_Mutation,SNP,C,T,c.(268-270)Cga>Tga,6,95,0,120
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,HECW1,23072,7,43484898,43484898,Silent,SNP,C,T,c.(2125-2127)aaC>aaT,5,170,0,277
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,TNS3,64759,7,47317694,47317694,Missense_Mutation,SNP,C,A,c.(4318-4320)Ggt>Tgt,4,70,0,105
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,CPED1,79974,7,120690866,120690866,Intron,SNP,C,T,,5,204,0,184
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,FLNC,2318,7,128494668,128494668,Missense_Mutation,SNP,G,A,c.(6928-6930)gGt>gAt,4,91,0,254
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,KCP,375616,7,128546347,128546347,RNA,SNP,G,A,,4,131,0,178
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,STRIP2,57464,7,129094318,129094318,Missense_Mutation,SNP,C,A,c.(655-657)aCa>aAa,4,92,0,164
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,SMKR1,100287482,7,129152216,129152216,Missense_Mutation,SNP,C,G,c.(130-132)gaC>gaG,5,162,0,178
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,DGKI,9162,7,137075981,137075981,Silent,SNP,C,T,c.(3181-3183)ctG>ctA,6,178,0,176
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,OR2A2,442361,7,143807530,143807530,Missense_Mutation,SNP,C,A,c.(853-855)aaC>aaA,17,66,0,153
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,SOX17,64321,8,55372224,55372224,Missense_Mutation,SNP,C,T,c.(913-915)gCg>gTg,4,93,0,233
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,CHD7,55636,8,61764732,61764732,Silent,SNP,C,A,c.(5818-5820)cgC>cgA,5,184,1,169
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,TMEM71,137835,8,133764237,133764237,Silent,SNP,G,A,c.(106-108)acC>acT,5,120,1,221
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,THEM6,51337,8,143808999,143808999,Missense_Mutation,SNP,G,A,c.(235-237)Gtc>Atc,12,34,0,174
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,GPAA1,8733,8,145140212,145140212,Silent,SNP,C,T,c.(1279-1281)ctC>ctT,3,18,0,70
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,RFX3,5991,9,3330506,3330506,Missense_Mutation,SNP,G,A,c.(226-228)aCg>aTg,4,76,0,111
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,FAM205A,259308,9,34723348,34723348,Missense_Mutation,SNP,C,T,c.(3889-3891)Gat>Aat,57,175,0,280
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,FBXO10,26267,9,37541563,37541563,Missense_Mutation,SNP,G,T,c.(202-204)cCt>cAt,4,109,0,162
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ABCA1,19,9,107665961,107665961,5'UTR,SNP,G,A,,5,229,0,258
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,DENND1A,57706,9,126345556,126345556,Intron,SNP,G,A,,3,19,0,41
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PRR26,414235,10,696321,696321,Silent,SNP,C,T,c.(157-159)caC>caT,12,188,0,270
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,NEBL,10529,10,21120507,21120507,Silent,SNP,G,A,c.(1453-1455)gaC>gaT,5,128,0,180
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,XPNPEP1,7511,10,111647955,111647955,Intron,SNP,G,A,,4,68,0,89
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,KRTAP5-1,387264,11,1606427,1606427,Missense_Mutation,SNP,C,A,c.(52-54)gGc>gTc,5,95,0,240
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,NUCB2,4925,11,17351675,17351675,Splice_Site,SNP,C,A,c.(1003-1005)aCa>aAa,4,29,0,27
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,MRGPRX2,117194,11,19077571,19077571,Missense_Mutation,SNP,G,A,c.(379-381)Cgc>Tgc,6,112,0,130
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,TRIM51,84767,11,55652999,55652999,Missense_Mutation,SNP,A,G,c.(94-96)cAc>cGc,8,124,0,225
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ADRBK1,156,11,67049151,67049151,Missense_Mutation,SNP,G,A,c.(778-780)Gcg>Acg,5,87,0,224
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,IGHMBP2,3508,11,68678912,68678912,Silent,SNP,G,A,c.(550-552)ccG>ccA,8,186,0,236
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,TPCN2,219931,11,68830353,68830353,Splice_Site,SNP,C,A,c.(547-549)cCc>cAc,5,45,0,90
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,INPPL1,3636,11,71946416,71946416,Silent,SNP,C,T,c.(2578-2580)ggC>ggT,4,99,0,165
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,TENM4,26011,11,78383073,78383073,Intron,SNP,C,T,,4,20,0,61
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,NOP2,4839,12,6673368,6673368,Intron,SNP,G,A,,4,52,0,55
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,A2ML1,144568,12,9016572,9016572,Missense_Mutation,SNP,C,T,c.(3685-3687)Cac>Tac,10,106,0,225
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,GRIN2B,2904,12,13716359,13716359,Silent,SNP,C,T,c.(3811-3813)gcG>gcA,27,80,1,149
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ABCC9,10060,12,21995261,21995261,Missense_Mutation,SNP,G,A,c.(3460-3462)Cgg>Tgg,17,186,1,214
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,TM7SF3,51768,12,27152501,27152501,Missense_Mutation,SNP,G,T,c.(355-357)Cct>Act,5,123,0,151
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PLEKHA8P1,51054,12,45567173,45567173,RNA,SNP,G,A,,5,201,0,268
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,DDX23,9416,12,49237740,49237740,Silent,SNP,C,T,c.(301-303)aaG>aaA,4,70,0,101
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,GALNT6,11226,12,51758108,51758108,Silent,SNP,G,A,c.(844-846)ctC>ctT,5,87,0,148
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,INHBE,83729,12,57850362,57850362,Missense_Mutation,SNP,C,T,c.(784-786)Cgg>Tgg,6,95,0,154
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,AVIL,10677,12,58203668,58203668,Nonsense_Mutation,SNP,G,T,c.(766-768)tCa>tAa,4,91,0,137
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,TBK1,29110,12,64891466,64891466,Silent,SNP,C,G,c.(1996-1998)tcC>tcG,4,136,0,130
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ATP2B1,490,12,90014001,90014001,Missense_Mutation,SNP,C,A,c.(1603-1605)gGt>gTt,4,44,0,71
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ATXN2,6311,12,112036874,112036874,Missense_Mutation,SNP,G,A,c.(445-447)Cgc>Tgc,3,31,0,108
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ATXN2,6311,12,112036896,112036896,Silent,SNP,C,A,c.(421-423)gcG>gcT,3,19,0,73
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,TPCN1,53373,12,113714821,113714821,Missense_Mutation,SNP,G,A,c.(1039-1041)cGc>cAc,5,67,1,146
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,SRRM4,84530,12,119594348,119594348,Silent,SNP,C,T,c.(1579-1581)tcC>tcT,5,110,0,169
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,RIMBP2,23504,12,130934809,130934809,Missense_Mutation,SNP,G,A,c.(466-468)Cgg>Tgg,4,68,0,155
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,LINC00283,100874057,13,103396358,103396358,RNA,SNP,G,A,,5,150,0,153
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,RNF31,55072,14,24618725,24618725,Missense_Mutation,SNP,C,A,c.(742-744)Cca>Aca,4,114,0,120
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,CHMP4A,29082,14,24679644,24679644,Missense_Mutation,SNP,C,T,c.(520-522)Gcc>Acc,5,112,0,123
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,G2E3,55632,14,31084606,31084606,Silent,SNP,T,C,c.(1723-1725)taT>taC,10,78,0,65
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,DDX24,57062,14,94528614,94528614,Missense_Mutation,SNP,C,G,c.(1072-1074)Gag>Cag,4,168,1,176
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,TDRD9,122402,14,104516005,104516005,Nonsense_Mutation,SNP,C,A,c.(4033-4035)taC>taA,4,119,0,129
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,JAG2,3714,14,105618392,105618392,Missense_Mutation,SNP,G,T,c.(922-924)Ctg>Atg,15,38,0,253
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,KNSTRN,90417,15,40681498,40681498,Intron,SNP,C,A,,3,12,0,27
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PPIP5K1,9677,15,43831718,43831718,Missense_Mutation,SNP,A,G,c.(3448-3450)cTt>cCt,5,85,0,133
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,LACTB,114294,15,63414431,63414431,Intron,SNP,C,T,,4,48,0,98
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ODF3L1,161753,15,76018456,76018456,Missense_Mutation,SNP,G,A,c.(286-288)cGg>cAg,25,82,0,164
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ADAMTS7,11173,15,79067056,79067056,Missense_Mutation,SNP,G,A,c.(1786-1788)Cgc>Tgc,4,69,0,188
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ABCC1,4363,16,16108387,16108387,Nonsense_Mutation,SNP,G,T,c.(391-393)Gga>Tga,9,75,0,107
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,GTF3C1,2975,16,27503798,27503798,Missense_Mutation,SNP,G,T,c.(3010-3012)gaC>gaA,4,45,0,70
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,CLN3,1201,16,28493848,28493848,Missense_Mutation,SNP,C,A,c.(856-858)Gtt>Ttt,13,188,0,399
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ORC6,23594,16,46731825,46731825,3'UTR,SNP,G,A,,4,51,0,80
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PLCG2,5336,16,81965167,81965167,Missense_Mutation,SNP,G,T,c.(2647-2649)Gat>Tat,4,95,0,115
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,SCARF1,8578,17,1546888,1546888,Silent,SNP,G,A,c.(637-639)ggC>ggT,4,55,0,187
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,SERPINF2,5345,17,1657757,1657757,Missense_Mutation,SNP,C,A,c.(1405-1407)Ctt>Att,3,11,0,32
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,TRPV3,162514,17,3450009,3450009,Intron,SNP,T,C,,4,57,0,85
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PLD2,5338,17,4721341,4721341,Missense_Mutation,SNP,C,A,c.(1858-1860)aaC>aaA,4,74,0,172
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,TMEM97,27346,17,26646361,26646361,Silent,SNP,G,A,c.(94-96)gcG>gcA,4,85,0,104
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,RAD51D,5892,17,33430296,33430296,Missense_Mutation,SNP,G,A,c.(715-717)Cgg>Tgg,6,231,0,353
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,SLFN5,162394,17,33592440,33592440,Missense_Mutation,SNP,C,T,c.(2209-2211)Ctc>Ttc,4,45,0,81
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,AXIN2,8313,17,63533903,63533903,Silent,SNP,C,T,c.(1249-1251)gcG>gcA,3,25,0,54
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,CD300LF,146722,17,72699194,72699194,Silent,SNP,G,A,c.(424-426)acC>acT,4,94,0,79
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,KIAA0195,9772,17,73491660,73491660,Silent,SNP,C,A,c.(2878-2880)ccC>ccA,4,46,0,103
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,RFNG,5986,17,80009632,80009632,Missense_Mutation,SNP,G,A,c.(10-12)gCg>gTg,2,1,0,10
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,SECTM1,6398,17,80280776,80280776,Missense_Mutation,SNP,C,T,c.(514-516)cGc>cAc,4,52,0,106
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ARHGAP28,79822,18,6890085,6890085,Splice_Site,SNP,G,A,c.e13+1,4,71,0,89
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,MBD1,4152,18,47806342,47806342,Silent,SNP,G,A,c.(19-21)gaC>gaT,5,155,0,156
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,RP11-267C16.1,0,18,48918627,48918627,lincRNA,SNP,G,A,,4,56,0,77
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PCSK4,54760,19,1487044,1487044,Silent,SNP,C,A,c.(874-876)acG>acT,4,58,0,199
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,AP3D1,8943,19,2116198,2116198,Intron,SNP,G,T,,4,66,0,106
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,SLC25A23,79085,19,6456549,6456549,Intron,SNP,G,A,,4,50,0,80
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,MUC16,94025,19,9088627,9088627,Missense_Mutation,SNP,G,A,c.(3187-3189)gCt>gTt,25,68,0,166
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,OR7G3,390883,19,9237305,9237305,Missense_Mutation,SNP,C,T,c.(322-324)Gtt>Att,4,86,0,158
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,EPOR,2057,19,11492403,11492403,Missense_Mutation,SNP,C,A,c.(550-552)Gtc>Ttc,4,91,0,200
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,NANOS3,342977,19,13988061,13988061,5'Flank,SNP,C,A,,4,19,0,56
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,RFXANK,8625,19,19311637,19311637,Intron,SNP,C,T,,3,15,0,10
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ZNF208,7757,19,22153997,22153997,Missense_Mutation,SNP,A,G,c.(3838-3840)cTc>cCc,8,123,0,125
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ZNF208,7757,19,22156193,22156193,Missense_Mutation,SNP,G,T,c.(1642-1644)aCt>aAt,7,209,0,283
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PLD3,23646,19,40872661,40872661,Intron,SNP,C,T,,4,88,0,144
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ALDH16A1,126133,19,49967908,49967908,Missense_Mutation,SNP,G,T,c.(1456-1458)cGg>cTg,4,73,0,131
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PRR12,57479,19,50100410,50100410,Missense_Mutation,SNP,C,A,c.(2818-2820)Caa>Aaa,4,105,0,339
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,VSIG10L,147645,19,51843964,51843964,Silent,SNP,C,G,c.(910-912)ctG>ctC,3,15,0,52
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PRKCG,5582,19,54407970,54407970,Missense_Mutation,SNP,C,T,c.(1738-1740)Cgg>Tgg,4,126,0,231
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,SSC5D,284297,19,56029754,56029754,Missense_Mutation,SNP,C,T,c.(4111-4113)Cct>Tct,4,88,0,115
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,LRRN4,164312,20,6033225,6033225,Missense_Mutation,SNP,G,A,c.(220-222)cCg>cTg,4,80,1,266
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,Unknown,0,20,23531236,23531236,IGR,SNP,G,A,,3,9,0,28
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ABHD12,26090,20,25371151,25371151,Silent,SNP,G,T,c.(187-189)ggC>ggA,4,59,1,143
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,HUNK,30811,21,33296874,33296874,Missense_Mutation,SNP,G,T,c.(355-357)cGc>cTc,4,180,0,226
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ARVCF,421,22,19967554,19967554,Missense_Mutation,SNP,G,A,c.(1108-1110)Ccc>Tcc,3,17,0,99
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,TTC28,23331,22,28702592,28702592,Missense_Mutation,SNP,G,A,c.(421-423)Cgt>Tgt,6,186,0,165
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,NR0B1,190,X,30326996,30326996,Missense_Mutation,SNP,G,A,c.(484-486)gCg>gTg,4,97,0,216
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,DDX3X,1654,X,41200726,41200726,Intron,SNP,T,A,,4,30,0,31
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,RBM10,8241,X,47045003,47045003,Missense_Mutation,SNP,C,T,c.(2329-2331)Cac>Tac,28,64,0,176
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,XIST,7503,X,73070595,73070595,lincRNA,SNP,G,A,,9,16,0,34
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,GPR174,84636,X,78427403,78427403,Missense_Mutation,SNP,G,A,c.(898-900)cGa>cAa,4,31,0,25
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ZNF449,203523,X,134494892,134494892,Missense_Mutation,SNP,G,T,c.(1447-1449)aGa>aTa,4,57,0,53
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PLXNB3,5365,X,153039332,153039332,Missense_Mutation,SNP,G,T,c.(3298-3300)Gtc>Ttc,4,31,0,109
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,FLNA,2316,X,153594511,153594511,Missense_Mutation,SNP,C,T,c.(1309-1311)cGg>cAg,5,58,1,152
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ANKRD65,441869,1,1355473,1355473,Frame_Shift_Del,DEL,C,-,c.(709-711)gccfs,4,15,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,MTHFR,4524,1,11855209,11855216,Frame_Shift_Del,DEL,TCGCGGTT,-,c.(970-978)aaccgcgagfs,5,97,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,SETDB1,9869,1,150931690,150931691,Frame_Shift_Ins,INS,-,GAGACAC,c.(2368-2370)aacfs,3,38,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,COL7A1,1294,3,48607417,48607418,Intron,INS,-,TG,,4,8,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,RNF14,9604,5,141359961,141359962,Intron,DEL,CT,-,,3,17,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,FOXC1,2296,6,1612467,1612468,3'UTR,INS,-,C,,3,21,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,SYNE1,23345,6,152671159,152671159,Intron,DEL,A,-,,2,7,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PRKAR2B,5577,7,106685616,106685618,In_Frame_Del,DEL,GGA,-,c.(262-267)ggggag>ggg,3,10,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PAX4,5078,7,127254754,127254754,Intron,DEL,G,-,,3,9,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,FBXO16,157574,8,28286221,28286222,3'UTR,INS,-,AAG,,3,20,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,IDO1,3620,8,39776675,39776675,Intron,DEL,T,-,,4,20,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ERMP1,79956,9,5811354,5811354,Intron,DEL,A,-,,5,41,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,DEAF1,10522,11,694968,694985,In_Frame_Del,DEL,GCCGCCACAGCGGCCGCG,-,c.(61-81)gccgcggccgctgtggcggcg>gcg,25,33,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,TMEM9B,56674,11,8974629,8974630,Intron,INS,-,A,,4,18,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,CDKN1B,1027,12,12870946,12870947,Frame_Shift_Ins,INS,-,C,c.(172-177)cgcaagfs,93,278,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,PTGES3,10728,12,57081729,57081730,Intron,INS,-,CGCGG,,10,69,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ANKRD9,122416,14,102973531,102973533,In_Frame_Del,DEL,CAG,-,c.(694-696)ctgdel,4,8,,
RP-1532_PCProject_0439_T2_v4_Exome_OnPrem,ZMYM3,9203,X,70468897,70468898,Frame_Shift_Del,DEL,AG,-,c.(1591-1593)tctfs,13,19,,
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,CHD5,26038,1,6202464,6202464,Intron,SNP,G,A,,4,60,0,38
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,DRAXIN,374946,1,11766771,11766771,Intron,SNP,C,G,,3,20,0,20
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,SPEN,23013,1,16255226,16255226,Missense_Mutation,SNP,C,T,c.(2491-2493)Cct>Tct,5,248,0,157
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,AIM1L,55057,1,26671492,26671492,5'Flank,SNP,C,A,,5,266,0,146
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,CSMD2,114784,1,33985435,33985435,Silent,SNP,G,A,c.(10711-10713)ttC>ttT,54,262,0,102
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ST6GALNAC5,81849,1,77334304,77334304,Silent,SNP,G,A,c.(136-138)caG>caA,9,873,0,246
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,SYDE2,84144,1,85666143,85666143,Silent,SNP,G,A,c.(535-537)tcC>tcT,9,907,0,359
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,FLG,2312,1,152283924,152283924,Silent,SNP,G,A,c.(3436-3438)caC>caT,17,525,0,419
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,NCSTN,23385,1,160326056,160326056,Missense_Mutation,SNP,C,T,c.(1558-1560)Cgc>Tgc,8,448,0,284
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,FCRLB,127943,1,161695763,161695763,Missense_Mutation,SNP,A,G,c.(460-462)Act>Gct,17,146,0,83
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,HMCN1,83872,1,186114583,186114583,Missense_Mutation,SNP,C,T,c.(14314-14316)aCg>aTg,7,18,0,22
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,OBSCN,84033,1,228459870,228459870,Intron,SNP,G,A,,7,387,0,162
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,C2orf70,339778,2,26798948,26798948,Missense_Mutation,SNP,C,T,c.(253-255)Cgc>Tgc,10,569,0,208
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,CRIM1,51232,2,36749369,36749369,Missense_Mutation,SNP,G,T,c.(2341-2343)Gta>Tta,5,350,0,276
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ARHGEF33,100271715,2,39187448,39187448,Missense_Mutation,SNP,C,T,c.(2002-2004)Cgg>Tgg,5,360,0,135
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,EML6,400954,2,55179773,55179773,Missense_Mutation,SNP,G,T,c.(4255-4257)tGt>tTt,6,129,0,77
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,BCL11A,53335,2,60688664,60688664,Silent,SNP,G,A,c.(1381-1383)agC>agT,9,619,0,172
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,IL1R1,3554,2,102781352,102781352,Missense_Mutation,SNP,T,A,c.(178-180)gaT>gaA,43,182,0,170
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,FSIP2,401024,2,186658642,186658642,Missense_Mutation,SNP,G,A,c.(6778-6780)cGt>cAt,5,17,0,23
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,STAT4,6775,2,191929601,191929601,Nonsense_Mutation,SNP,C,T,c.(712-714)tgG>tgA,5,186,0,135
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ABCB6,10058,2,220078629,220078629,Silent,SNP,C,T,c.(1495-1497)caG>caA,6,222,0,112
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,CHPF,79586,2,220404647,220404647,Missense_Mutation,SNP,G,A,c.(1786-1788)Cgc>Tgc,6,351,0,92
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,RNF123,63891,3,49724903,49724903,5'Flank,SNP,G,A,,9,677,0,236
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,DENND6A,201627,3,57651946,57651946,Silent,SNP,G,T,c.(334-336)acC>acA,4,133,0,67
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,TMEM45A,55076,3,100275654,100275654,Missense_Mutation,SNP,G,A,c.(241-243)Gac>Aac,18,291,0,183
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,MAATS1,89876,3,119462961,119462961,Missense_Mutation,SNP,G,A,c.(1819-1821)cGg>cAg,27,117,0,62
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,IFT122,55764,3,129159182,129159182,Silent,SNP,C,G,c.(7-9)gcC>gcG,13,970,0,232
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ANAPC13,25847,3,134201686,134201686,Missense_Mutation,SNP,C,G,c.(61-63)Gaa>Caa,5,173,0,75
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,NMD3,51068,3,160970620,160970620,IGR,SNP,T,C,,5,128,0,59
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,NMD3,51068,3,160970622,160970622,IGR,SNP,G,C,,5,126,0,57
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,MCF2L2,23101,3,182910863,182910863,Silent,SNP,G,A,c.(2938-2940)tcC>tcT,4,72,0,55
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF595,152687,4,87092,87092,3'UTR,SNP,C,T,,5,104,0,103
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,EVC2,132884,4,5682992,5682992,Missense_Mutation,SNP,C,T,c.(865-867)Gta>Ata,6,482,0,241
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,GRIA2,2891,4,158253997,158253997,Silent,SNP,C,T,c.(907-909)gcC>gcT,8,21,0,38
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,SORBS2,8470,4,186599643,186599643,5'UTR,SNP,G,A,,5,132,0,65
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ANKRD32,84250,5,94027922,94027922,Missense_Mutation,SNP,G,A,c.(2656-2658)Gga>Aga,5,152,0,84
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,MEGF10,84466,5,126758455,126758455,Missense_Mutation,SNP,G,A,c.(1684-1686)Gga>Aga,7,383,0,125
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,PCDHB18,54660,5,140616104,140616104,RNA,SNP,G,A,,36,989,0,377
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,HDGFL1,154150,6,22569816,22569816,Silent,SNP,C,T,c.(10-12)taC>taT,30,120,0,72
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZSCAN9,7746,6,28195269,28195269,Missense_Mutation,SNP,A,G,c.(406-408)gAa>gGa,7,27,0,46
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,DPCR1,135656,6,30918456,30918456,Missense_Mutation,SNP,G,C,c.(2215-2217)Gag>Cag,8,643,0,324
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,SENP6,26054,6,76368981,76368981,Missense_Mutation,SNP,G,A,c.(553-555)cGt>cAt,7,53,0,49
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,Unknown,0,6,86445499,86445499,IGR,SNP,G,A,,5,118,0,85
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,RARS2,57038,6,88226581,88226581,Missense_Mutation,SNP,T,C,c.(1528-1530)tAt>tGt,8,266,0,221
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,GRM1,2911,6,146351082,146351082,Silent,SNP,C,T,c.(427-429)gaC>gaT,9,320,0,195
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,IQCE,23288,7,2612458,2612458,Intron,SNP,A,G,,4,59,0,44
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,MYO1G,64005,7,45009474,45009474,Splice_Site,SNP,C,T,c.(1333-1335)Gtt>Att,15,46,0,36
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,EGFR,1956,7,55273140,55273140,Missense_Mutation,SNP,G,A,c.(3463-3465)Gcc>Acc,9,329,0,158
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF716,441234,7,57529048,57529048,Missense_Mutation,SNP,A,G,c.(880-882)aAa>aGa,6,239,0,168
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,AKAP9,10142,7,91722492,91722492,Missense_Mutation,SNP,C,T,c.(9451-9453)gCa>gTa,6,116,0,114
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,AP4M1,9179,7,99700566,99700566,Missense_Mutation,SNP,C,T,c.(334-336)Ctc>Ttc,46,403,0,308
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,TEX15,56154,8,30706144,30706144,Missense_Mutation,SNP,C,T,c.(388-390)atG>atA,7,59,0,76
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ESRP1,54845,8,95653540,95653540,5'UTR,SNP,T,C,,9,61,1,30
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,KIAA2026,158358,9,5922770,5922770,Missense_Mutation,SNP,T,C,c.(3226-3228)Ata>Gta,9,130,0,131
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,NFIB,4781,9,14150212,14150212,Missense_Mutation,SNP,G,T,c.(736-738)agC>agA,56,263,0,179
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,FOCAD,54914,9,20986433,20986433,Nonsense_Mutation,SNP,C,G,c.(4873-4875)taC>taG,4,141,1,83
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,UBAP2,55833,9,33948459,33948459,Missense_Mutation,SNP,G,T,c.(1183-1185)Cag>Aag,5,142,0,98
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,EPB41L4B,54566,9,112017957,112017957,Missense_Mutation,SNP,G,A,c.(1003-1005)Cgt>Tgt,6,41,0,33
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,GSN,2934,9,124081040,124081040,Missense_Mutation,SNP,A,G,c.(1225-1227)tAc>tGc,55,586,0,212
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,DBH,1621,9,136518103,136518103,Missense_Mutation,SNP,C,A,c.(1414-1416)gaC>gaA,14,710,0,261
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,COL5A1,1289,9,137664691,137664691,Intron,SNP,G,A,,127,371,0,185
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,COL5A1,1289,9,137704476,137704476,Missense_Mutation,SNP,G,A,c.(3769-3771)cGa>cAa,6,356,0,167
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,SUV39H2,79723,10,14941212,14941212,Intron,SNP,A,G,,6,183,0,74
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZMIZ1,57178,10,81061889,81061889,Missense_Mutation,SNP,T,C,c.(2044-2046)gTa>gCa,7,410,0,157
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,NEURL,0,10,105331382,105331382,Missense_Mutation,SNP,G,T,c.(451-453)gGc>gTc,8,705,0,218
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ATRNL1,26033,10,117357144,117357144,Intron,SNP,G,A,,6,308,0,146
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,DMBT1,1755,10,124338267,124338267,Missense_Mutation,SNP,C,T,c.(670-672)cCc>cTc,4,123,0,72
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,GPR26,2849,10,125425949,125425949,Missense_Mutation,SNP,C,T,c.(25-27)gCg>gTg,7,116,0,57
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,MKI67,4288,10,129905590,129905590,Missense_Mutation,SNP,G,A,c.(4513-4515)aCa>aTa,44,302,0,260
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,NLRP6,171389,11,284625,284625,Silent,SNP,C,T,c.(2521-2523)tgC>tgT,4,115,0,35
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,LRP4,4038,11,46893188,46893188,Intron,SNP,C,T,,10,277,0,201
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,NAALADL1,10004,11,64820736,64820736,Silent,SNP,G,A,c.(1150-1152)gcC>gcT,14,201,0,75
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,MRPL49,740,11,64893256,64893256,Missense_Mutation,SNP,C,T,c.(412-414)aCc>aTc,5,140,0,88
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,GPR152,390212,11,67219163,67219163,Missense_Mutation,SNP,T,C,c.(1033-1035)Atg>Gtg,55,413,0,179
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,CTTN,2017,11,70281585,70281585,3'UTR,SNP,G,A,,6,416,0,132
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,PCF11,51585,11,82875264,82875264,Missense_Mutation,SNP,A,T,c.(523-525)Aca>Tca,7,49,0,64
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,CCDC82,79780,11,96092330,96092330,Missense_Mutation,SNP,C,G,c.(1393-1395)Ggc>Cgc,4,20,0,30
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,OR10S1,219873,11,123848300,123848300,Silent,SNP,G,A,c.(97-99)acC>acT,40,243,0,135
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,FEZ1,9638,11,125324019,125324019,Intron,SNP,C,T,,4,71,0,54
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,AGAP2,116986,12,58127819,58127819,Silent,SNP,C,T,c.(1537-1539)gtG>gtA,4,25,0,32
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,TRAFD1,10906,12,112577962,112577962,Intron,SNP,A,C,,3,13,0,9
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,HNF1A,6927,12,121432108,121432108,Silent,SNP,G,A,c.(853-855)acG>acA,7,611,1,253
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,PUS1,80324,12,132416777,132416777,Missense_Mutation,SNP,G,A,c.(361-363)Gtc>Atc,13,206,0,221
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,CENPJ,55835,13,25466772,25466772,Intron,SNP,C,T,,8,153,0,78
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,URAD,646625,13,28562652,28562652,Silent,SNP,C,T,c.(121-123)ttG>ttA,4,37,0,44
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,FLT3,2322,13,28609722,28609722,Missense_Mutation,SNP,T,C,c.(1507-1509)Atg>Gtg,5,138,0,113
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,LRCH1,23143,13,47275298,47275298,Missense_Mutation,SNP,C,G,c.(1354-1356)atC>atG,23,92,0,111
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ARHGEF40,55701,14,21551030,21551030,Missense_Mutation,SNP,G,A,c.(3526-3528)cGa>cAa,12,154,0,92
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,C14orf183,196913,14,50555909,50555909,Missense_Mutation,SNP,G,A,c.(376-378)tCg>tTg,5,128,0,78
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,PYGL,5836,14,51383359,51383359,Splice_Site,SNP,C,T,c.e9+1,6,261,0,157
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,PYGL,5836,14,51383380,51383380,Missense_Mutation,SNP,C,T,c.(1072-1074)Gaa>Aaa,6,246,0,148
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,INF2,64423,14,105180871,105180871,Silent,SNP,C,T,c.(3370-3372)gcC>gcT,9,1125,0,337
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,HERC2,8924,15,28473381,28473381,Missense_Mutation,SNP,G,A,c.(5446-5448)aCg>aTg,7,696,0,207
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,CHP1,11261,15,41554958,41554958,Missense_Mutation,SNP,G,C,c.(226-228)Gac>Cac,6,40,1,50
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,PPIP5K1,9677,15,43828342,43828342,Intron,SNP,T,C,,4,107,0,57
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,TIPIN,54962,15,66641747,66641747,Missense_Mutation,SNP,T,G,c.(316-318)cAc>cCc,6,69,0,75
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,PDE8A,5151,15,85610379,85610379,Missense_Mutation,SNP,C,A,c.(376-378)gaC>gaA,5,135,0,78
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ABCC6,368,16,16263514,16263514,Missense_Mutation,SNP,C,T,c.(2983-2985)gGc>gAc,8,728,0,301
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,SEZ6L2,26470,16,29899038,29899038,Missense_Mutation,SNP,A,C,c.(1138-1140)atT>atG,7,167,0,83
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,HSD3B7,80270,16,30998187,30998187,Silent,SNP,G,A,c.(556-558)acG>acA,122,316,1,206
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF267,10308,16,31895864,31895864,Missense_Mutation,SNP,G,A,c.(49-51)Gag>Aag,27,248,0,159
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,CHD9,80205,16,53155315,53155315,3'UTR,SNP,G,A,,6,85,1,85
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,AARS,16,16,70299532,70299532,Missense_Mutation,SNP,C,A,c.(1255-1257)gGg>gTg,9,299,1,370
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,DNAH9,1770,17,11648149,11648149,Silent,SNP,C,T,c.(6145-6147)tcC>tcT,11,118,0,103
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,AARSD1,80755,17,41114201,41114201,Intron,SNP,T,C,,5,54,0,36
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,RPL38,6169,17,72205338,72205338,Missense_Mutation,SNP,A,G,c.(76-78)aAg>aGg,4,110,0,51
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,RAB37,326624,17,72738437,72738437,Intron,SNP,G,A,,6,151,0,90
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,KATNAL2,83473,18,44624587,44624587,3'UTR,SNP,C,T,,5,60,0,23
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,C2CD4C,126567,19,407228,407228,Silent,SNP,G,A,c.(1132-1134)gaC>gaT,103,436,0,177
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,GRIN3B,116444,19,1007844,1007844,Intron,SNP,G,C,,14,137,2,47
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,PLIN4,729359,19,4512008,4512008,Missense_Mutation,SNP,G,A,c.(1921-1923)aCg>aTg,8,734,0,329
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,UPF1,5976,19,18966750,18966750,Missense_Mutation,SNP,G,T,c.(1594-1596)Gct>Tct,6,233,0,78
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF253,56242,19,20002410,20002410,Missense_Mutation,SNP,C,G,c.(352-354)agC>agG,12,127,0,100
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF93,81931,19,20044369,20044369,Missense_Mutation,SNP,T,A,c.(604-606)aTt>aAt,4,68,0,54
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF90,7643,19,20229541,20229541,Missense_Mutation,SNP,A,G,c.(1177-1179)gAa>gGa,5,119,0,122
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF90,7643,19,20232097,20232097,IGR,SNP,T,C,,4,124,0,53
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF90,7643,19,20232107,20232107,IGR,SNP,A,G,,4,117,0,46
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF737,100129842,19,20727917,20727917,Silent,SNP,A,G,c.(1090-1092)agT>agC,5,229,1,155
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF85,7639,19,21132259,21132259,Silent,SNP,T,C,c.(937-939)ccT>ccC,5,167,0,116
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF429,353088,19,21720631,21720631,Silent,SNP,C,T,c.(1774-1776)ccC>ccT,6,243,1,163
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF730,100129543,19,23328671,23328671,Silent,SNP,A,G,c.(823-825)aaA>aaG,4,94,0,54
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF724P,440519,19,23405373,23405373,Silent,SNP,T,G,c.(1672-1674)ggA>ggC,5,242,0,215
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF724P,440519,19,23405378,23405378,Missense_Mutation,SNP,T,C,c.(1669-1671)Act>Gct,5,242,0,207
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF726,730087,19,24115619,24115619,Missense_Mutation,SNP,A,G,c.(700-702)tAt>tGt,5,70,0,76
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,WDR87,83889,19,38379091,38379091,Silent,SNP,G,A,c.(5101-5103)ccC>ccT,6,154,0,110
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,SAMD4B,55095,19,39860561,39860561,Missense_Mutation,SNP,G,T,c.(463-465)Gct>Tct,5,285,0,127
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,NOVA2,4858,19,46443409,46443409,Silent,SNP,C,T,c.(1189-1191)gcG>gcA,12,296,0,156
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZSCAN4,201516,19,58189401,58189401,Silent,SNP,G,C,c.(514-516)ggG>ggC,3,12,0,14
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,KCNB1,3745,20,47990706,47990706,Missense_Mutation,SNP,A,T,c.(1390-1392)gTg>gAg,4,65,0,56
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF512B,57473,20,62657361,62657361,Intron,SNP,C,T,,9,946,0,356
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,BTG3,10950,21,18976514,18976514,Intron,SNP,G,A,,4,35,0,13
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,GAB4,128954,22,17488926,17488926,Missense_Mutation,SNP,C,T,c.(79-81)Gga>Aga,9,295,0,113
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,GGT5,2687,22,24616517,24616517,Intron,SNP,T,C,,5,144,0,135
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,PLXNB2,23654,22,50714399,50714399,Intron,SNP,G,A,,8,520,0,186
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZNF41,7592,X,47307718,47307718,Missense_Mutation,SNP,A,G,c.(1450-1452)gTg>gCg,8,26,0,38
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,TEX13A,56157,X,104464108,104464108,Missense_Mutation,SNP,C,A,c.(766-768)aaG>aaT,72,100,0,101
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,RIMS3,9783,1,41094384,41094385,Intron,INS,-,T,,1,52,,
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,AHCTF1,25909,1,247013578,247013579,Frame_Shift_Ins,INS,-,AG,c.(5728-5730)aatfs,6,43,,
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,CTNNB1,1499,3,41275505,41275509,Intron,DEL,TTCTG,-,,4,46,,
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,NUP153,9972,6,17626041,17626043,In_Frame_Del,DEL,GCA,-,c.(3895-3900)tctgca>tca,6,23,,
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,6,25,,
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,PGR,5241,11,100909814,100909814,3'UTR,DEL,A,-,,9,31,,
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,ZFHX3,463,16,72832271,72832275,Frame_Shift_Del,DEL,CTGCG,-,c.(4306-4311)cgcagtfs,6,149,,
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,STXBP2,6813,19,7705019,7705024,Intron,DEL,TGTGTG,-,,5,472,,
RP-1532_PCProject_0443_T2_v4_Exome_OnPrem,Unknown,0,X,27479153,27479154,IGR,INS,-,GGG,,4,59,,
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,CPSF3L,54973,1,1254480,1254480,Intron,SNP,G,A,,4,162,0,77
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,TAS1R3,83756,1,1268964,1268964,Missense_Mutation,SNP,G,A,c.(1678-1680)cGg>cAg,89,502,0,173
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ACTRT2,140625,1,2938559,2938559,Silent,SNP,C,T,c.(307-309)agC>agT,6,730,0,235
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,TNFRSF8,943,1,12183872,12183872,Missense_Mutation,SNP,G,A,c.(1141-1143)Gtt>Att,5,328,0,111
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,HTR6,3362,1,20005830,20005830,Missense_Mutation,SNP,G,A,c.(1291-1293)cGg>cAg,4,128,0,93
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,TMCO4,255104,1,20107163,20107163,Missense_Mutation,SNP,G,A,c.(88-90)aCg>aTg,6,393,0,124
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,DDOST,1650,1,20987766,20987766,Silent,SNP,G,A,c.(127-129)agC>agT,6,609,0,171
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ARID1A,8289,1,27100125,27100125,Silent,SNP,G,A,c.(3919-3921)ccG>ccA,6,623,0,229
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,THRAP3,9967,1,36767245,36767245,Missense_Mutation,SNP,G,A,c.(2593-2595)cGg>cAg,5,149,0,62
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,RRAGC,64121,1,39305346,39305346,Missense_Mutation,SNP,C,T,c.(1078-1080)cGa>cAa,5,301,0,93
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PKLR,5313,1,155261703,155261703,Nonsense_Mutation,SNP,G,A,c.(1462-1464)Cga>Tga,6,512,1,197
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PRCC,5546,1,156756936,156756936,Silent,SNP,C,T,c.(1051-1053)ggC>ggT,4,124,0,62
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,IGSF9,57549,1,159902339,159902339,Missense_Mutation,SNP,G,A,c.(1207-1209)aCc>aTc,8,582,0,153
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PPOX,5498,1,161140423,161140423,Missense_Mutation,SNP,G,A,c.(1111-1113)gGt>gAt,7,702,1,364
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,FCGR2A,2212,1,161487842,161487842,Silent,SNP,C,T,c.(856-858)ggC>ggT,5,370,0,263
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,MROH9,80133,1,170965670,170965670,Missense_Mutation,SNP,G,A,c.(1360-1362)Gtt>Att,4,81,0,60
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,SIPA1L2,57568,1,232581367,232581367,Silent,SNP,G,A,c.(3259-3261)ccC>ccT,6,458,0,159
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,NID1,4811,1,236189444,236189444,Intron,SNP,G,A,,5,176,0,104
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,RP11-439E19.8,0,1,246943704,246943704,RNA,SNP,C,T,,7,960,1,340
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,OR2L13,284521,1,248263465,248263465,Missense_Mutation,SNP,A,T,c.(787-789)aAt>aTt,34,231,0,161
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,RNF144A,9781,2,7137100,7137100,Missense_Mutation,SNP,G,A,c.(43-45)Gac>Aac,7,774,0,163
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,CAD,790,2,27459335,27459335,Missense_Mutation,SNP,G,A,c.(4069-4071)Gct>Act,8,673,0,196
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,QPCT,25797,2,37571926,37571926,Missense_Mutation,SNP,C,G,c.(52-54)Ctg>Gtg,6,445,0,111
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,KCNK12,56660,2,47797406,47797406,Missense_Mutation,SNP,C,G,c.(64-66)tGc>tCc,6,283,0,103
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,NRXN1,9378,2,50724787,50724787,Nonsense_Mutation,SNP,G,A,c.(2563-2565)Cga>Tga,28,80,1,117
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,RTN4,57142,2,55254385,55254385,Missense_Mutation,SNP,G,T,c.(850-852)Ctc>Atc,4,59,0,68
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,FAM136A,84908,2,70528730,70528730,Intron,SNP,G,A,,7,636,1,189
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PTPN18,26469,2,131119811,131119811,Intron,SNP,A,G,,4,91,0,37
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PTPN18,26469,2,131119812,131119812,Intron,SNP,A,G,,4,92,0,35
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,SCN9A,6335,2,167143073,167143073,Missense_Mutation,SNP,A,G,c.(1375-1377)Tca>Cca,3,33,0,46
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,SP5,389058,2,171573413,171573413,Silent,SNP,C,T,c.(694-696)gcC>gcT,5,322,0,146
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,DLX1,1745,2,172950603,172950603,Silent,SNP,G,A,c.(196-198)ccG>ccA,8,664,0,253
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,TRAK2,66008,2,202272239,202272239,Missense_Mutation,SNP,A,G,c.(172-174)gTa>gCa,23,173,0,113
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PTPRN,5798,2,220162693,220162693,Missense_Mutation,SNP,G,A,c.(1801-1803)Cgg>Tgg,7,1039,0,354
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,DIS3L2,129563,2,233128076,233128076,Missense_Mutation,SNP,G,A,c.(1585-1587)Gtc>Atc,8,861,0,307
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ARL4C,10123,2,235404874,235404874,Silent,SNP,G,T,c.(355-357)ggC>ggA,4,80,0,43
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,FAM132B,151176,2,239070261,239070261,Silent,SNP,C,T,c.(223-225)agC>agT,4,160,0,60
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,NKTR,4820,3,42679364,42679364,Missense_Mutation,SNP,C,T,c.(2167-2169)tCa>tTa,10,66,0,79
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ATRIP,84126,3,48488370,48488370,Missense_Mutation,SNP,G,A,c.(121-123)Gct>Act,5,368,0,103
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,CACNA1D,776,3,53766050,53766050,Missense_Mutation,SNP,T,A,c.(2413-2415)aTt>aAt,22,592,0,218
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ROBO2,6092,3,77611894,77611894,Intron,SNP,T,C,,24,246,0,176
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ROBO1,6091,3,78667106,78667106,Missense_Mutation,SNP,C,T,c.(3961-3963)Gat>Aat,6,312,0,130
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ZDHHC23,254887,3,113679583,113679583,3'UTR,SNP,C,A,,3,14,0,19
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ADCY5,111,3,123005546,123005546,Missense_Mutation,SNP,G,A,c.(3643-3645)Ccc>Tcc,5,248,0,74
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ZDHHC19,131540,3,195934335,195934335,Silent,SNP,C,T,c.(619-621)ccG>ccA,7,407,1,144
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,DHX15,1665,4,24585958,24585958,Missense_Mutation,SNP,G,A,c.(58-60)gCg>gTg,64,484,1,146
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,C4orf19,55286,4,37462641,37462641,Intron,SNP,T,G,,3,21,0,31
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,HNRNPDL,9987,4,83349281,83349281,Missense_Mutation,SNP,T,C,c.(664-666)Agg>Ggg,4,86,0,72
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,CDKN2AIP,55602,4,184366104,184366104,Missense_Mutation,SNP,G,A,c.(154-156)Gct>Act,7,931,1,276
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,KLKB1,3818,4,187178373,187178373,Intron,SNP,C,A,,3,24,0,38
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,FBXL7,23194,5,15928224,15928224,Missense_Mutation,SNP,C,T,c.(352-354)cCg>cTg,7,396,0,132
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,MYO10,4651,5,16762159,16762159,Missense_Mutation,SNP,C,T,c.(1651-1653)Gga>Aga,4,132,0,60
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,MAST4,375449,5,66459633,66459633,Silent,SNP,C,T,c.(4624-4626)gaC>gaT,7,1092,0,273
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,APC,324,5,112179756,112179756,Missense_Mutation,SNP,G,A,c.(8464-8466)aGc>aAc,5,99,0,47
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,CSF2,1437,5,131410579,131410579,Missense_Mutation,SNP,C,A,c.(277-279)cCc>cAc,8,1203,1,406
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,KLHL3,26249,5,136974753,136974753,Missense_Mutation,SNP,C,T,c.(1108-1110)Gtg>Atg,6,692,0,225
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,FAM53C,51307,5,137681133,137681133,Silent,SNP,C,T,c.(754-756)ccC>ccT,6,495,0,181
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,KDM3B,51780,5,137688578,137688578,Missense_Mutation,SNP,G,A,c.(94-96)Gca>Aca,6,369,0,134
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,JAKMIP2,9832,5,146997574,146997574,Missense_Mutation,SNP,G,A,c.(2245-2247)aCg>aTg,5,458,0,279
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ANXA6,309,5,150519733,150519733,Silent,SNP,G,A,c.(88-90)taC>taT,6,423,0,149
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ADAM19,8728,5,156923951,156923951,Silent,SNP,G,A,c.(1543-1545)aaC>aaT,6,770,0,243
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PWWP2A,114825,5,159546180,159546180,Silent,SNP,C,T,c.(214-216)ccG>ccA,6,282,0,102
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,NKX2-5,1482,5,172661860,172661860,Missense_Mutation,SNP,G,A,c.(226-228)gCg>gTg,4,173,0,84
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,FLT4,2324,5,180047231,180047231,Silent,SNP,G,A,c.(2482-2484)tgC>tgT,6,295,0,116
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,DSP,1832,6,7583159,7583159,Missense_Mutation,SNP,T,A,c.(5662-5664)agT>agA,6,288,0,171
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,MCUR1,63933,6,13804380,13804380,Intron,SNP,C,G,,4,58,0,14
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,EHMT2,10919,6,31855713,31855713,Missense_Mutation,SNP,G,A,c.(1771-1773)Ccc>Tcc,4,105,0,42
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,UNC5CL,222643,6,41000703,41000703,Missense_Mutation,SNP,C,T,c.(868-870)cGc>cAc,87,577,0,281
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,BEND6,221336,6,56857269,56857269,Missense_Mutation,SNP,G,A,c.(214-216)Gcc>Acc,17,185,0,161
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,COL9A1,1297,6,71004249,71004249,Missense_Mutation,SNP,C,T,c.(316-318)gGa>gAa,7,110,0,127
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,BEND3,57673,6,107390319,107390319,Missense_Mutation,SNP,C,G,c.(2074-2076)gaG>gaC,42,237,0,84
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,SHPRH,257218,6,146214508,146214508,Missense_Mutation,SNP,G,A,c.(4717-4719)Cgt>Tgt,4,103,0,82
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,RP11-307P5.1,0,6,148051156,148051156,lincRNA,SNP,T,G,,4,43,1,25
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,TNRC18,84629,7,5427731,5427731,Missense_Mutation,SNP,G,A,c.(1723-1725)gCg>gTg,8,776,1,307
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,USP42,84132,7,6193877,6193877,Missense_Mutation,SNP,C,T,c.(2692-2694)Cgg>Tgg,5,421,0,170
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,GLI3,2737,7,42004521,42004521,Nonsense_Mutation,SNP,G,A,c.(4150-4152)Cag>Tag,8,1505,0,566
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,TMEM229A,730130,7,123672479,123672479,Silent,SNP,C,T,c.(577-579)caG>caA,7,602,1,183
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,AHCYL2,23382,7,129053471,129053471,Missense_Mutation,SNP,G,A,c.(1402-1404)cGt>cAt,4,161,0,106
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,Unknown,0,8,18941978,18941978,IGR,SNP,G,A,,4,109,0,46
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ANK1,286,8,41583410,41583410,Missense_Mutation,SNP,C,T,c.(481-483)Gcg>Acg,92,532,0,249
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ST18,9705,8,53084418,53084418,Silent,SNP,G,A,c.(1003-1005)Cta>Tta,67,181,0,106
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,RALYL,138046,8,85618282,85618282,Intron,SNP,C,A,,4,83,0,84
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,SLC7A13,157724,8,87229781,87229781,Missense_Mutation,SNP,G,A,c.(1096-1098)aCg>aTg,3,37,0,42
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ANKRD46,157567,8,101542023,101542023,Silent,SNP,G,A,c.(37-39)aaC>aaT,5,200,0,95
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PHF20L1,51105,8,133854862,133854862,Silent,SNP,A,G,c.(2488-2490)acA>acG,5,131,0,123
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PUF60,22827,8,144906533,144906533,Missense_Mutation,SNP,C,G,c.(61-63)Gcg>Ccg,6,467,0,141
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,BNC2,54796,9,16665149,16665149,Intron,SNP,C,T,,4,77,0,32
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,FRMD3,257019,9,85950536,85950536,Missense_Mutation,SNP,T,A,c.(490-492)gAt>gTt,14,80,0,73
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,FAM120A,23196,9,96320242,96320242,Missense_Mutation,SNP,G,A,c.(2617-2619)cGg>cAg,5,396,0,130
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,C9orf3,84909,9,97690762,97690762,Missense_Mutation,SNP,G,A,c.(1609-1611)cGt>cAt,6,707,0,221
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ST6GALNAC4,27090,9,130674683,130674683,Missense_Mutation,SNP,G,A,c.(475-477)Cgg>Tgg,7,737,0,220
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,TTF1,7270,9,135263554,135263554,Missense_Mutation,SNP,G,T,c.(2284-2286)Ctg>Atg,4,98,0,61
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,NOTCH1,4851,9,139404254,139404254,Missense_Mutation,SNP,T,C,c.(2899-2901)tAc>tGc,194,911,0,395
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,Unknown,0,10,30993393,30993393,IGR,SNP,G,A,,5,344,0,123
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ARHGAP22,58504,10,49659003,49659003,Missense_Mutation,SNP,G,A,c.(1168-1170)gCg>gTg,7,475,0,128
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PRKG1,5592,10,52834510,52834510,Intron,SNP,C,T,,6,883,0,280
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,C10orf107,219621,10,63519930,63519930,Silent,SNP,G,A,c.(400-402)acG>acA,4,91,0,87
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,SH2D4B,387694,10,82369260,82369260,Missense_Mutation,SNP,G,A,c.(934-936)cGa>cAa,5,444,0,145
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,CNNM1,26507,10,101120680,101120680,Silent,SNP,G,A,c.(1804-1806)cgG>cgA,4,169,0,58
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,GFRA1,2674,10,117884959,117884959,Silent,SNP,G,A,c.(541-543)agC>agT,7,501,0,194
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,MKI67,4288,10,129903974,129903974,Missense_Mutation,SNP,C,T,c.(6130-6132)Gaa>Aaa,7,302,0,147
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,TTC40,0,10,134624520,134624520,Missense_Mutation,SNP,A,C,c.(7516-7518)gTc>gGc,56,361,0,144
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,MUC5B,727897,11,1264758,1264758,Silent,SNP,G,A,c.(6646-6648)tcG>tcA,7,942,0,439
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PARVA,55742,11,12399092,12399092,5'Flank,SNP,G,A,,5,171,0,77
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,SYT13,57586,11,45277312,45277312,Missense_Mutation,SNP,G,A,c.(313-315)aCg>aTg,6,618,0,180
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,DAK,26007,11,61111384,61111384,Missense_Mutation,SNP,C,T,c.(1039-1041)Cgg>Tgg,5,385,0,123
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,FADS1,3992,11,61579389,61579389,Intron,SNP,C,T,,7,126,0,56
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,OVOL1,5017,11,65561534,65561534,Missense_Mutation,SNP,C,T,c.(133-135)Cgg>Tgg,7,471,1,150
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,IGHMBP2,3508,11,68707073,68707073,Silent,SNP,C,T,c.(2854-2856)gcC>gcT,6,477,0,129
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,LRRC32,2615,11,76371248,76371248,Silent,SNP,G,A,c.(1387-1389)ttC>ttT,4,47,0,24
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,DRD2,1813,11,113295380,113295380,5'UTR,SNP,G,A,,5,353,0,153
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,HTR3A,3359,11,113848499,113848499,Missense_Mutation,SNP,G,A,c.(73-75)aGg>aAg,5,350,0,114
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,TRIM29,23650,11,120008291,120008291,Missense_Mutation,SNP,C,T,c.(448-450)cGg>cAg,6,517,0,162
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ADIPOR2,79602,12,1893122,1893122,Silent,SNP,C,T,c.(913-915)gcC>gcT,5,215,0,82
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,CLEC2A,387836,12,10084898,10084898,Missense_Mutation,SNP,C,T,c.(31-33)Gct>Act,5,145,0,121
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,KRAS,3845,12,25380275,25380275,Missense_Mutation,SNP,T,G,c.(181-183)caA>caC,34,102,0,90
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,SLC38A1,81539,12,46602901,46602901,Silent,SNP,C,T,c.(322-324)ttG>ttA,5,27,0,43
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,TROAP,10024,12,49718028,49718028,Intron,SNP,A,G,,5,294,0,106
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,DGKA,1606,12,56332744,56332744,Missense_Mutation,SNP,C,A,c.(445-447)Ctg>Atg,5,293,0,98
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,AVIL,10677,12,58207977,58207977,Silent,SNP,G,A,c.(97-99)gcC>gcT,42,433,0,151
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,MDM2,4193,12,69209429,69209429,Intron,SNP,C,G,,6,239,1,83
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,NAV3,89795,12,78598916,78598916,Silent,SNP,C,T,c.(7036-7038)Ctg>Ttg,20,148,0,74
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,C12orf55,0,12,96915645,96915645,Missense_Mutation,SNP,G,A,c.(952-954)cGg>cAg,3,32,0,30
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,DNAH10,196385,12,124335536,124335536,Silent,SNP,G,A,c.(5848-5850)gcG>gcA,6,521,0,136
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,EP400,57634,12,132514369,132514369,Silent,SNP,G,A,c.(5611-5613)ccG>ccA,8,757,0,248
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,RPL21,6144,13,27829530,27829530,Intron,SNP,C,A,,14,187,0,173
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,UBAC2,337867,13,99886664,99886664,Intron,SNP,A,G,,4,68,0,40
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,MCF2L,23263,13,113634060,113634060,Intron,SNP,C,A,,6,233,0,74
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,GRTP1,79774,13,113979879,113979879,Intron,SNP,C,T,,4,103,0,37
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,MYH6,4624,14,23858677,23858677,Silent,SNP,C,T,c.(3901-3903)tcG>tcA,9,693,0,268
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,FOXA1,3169,14,38061208,38061208,Missense_Mutation,SNP,G,A,c.(781-783)Cgc>Tgc,41,104,0,23
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,CCDC88C,440193,14,91744465,91744465,Missense_Mutation,SNP,G,A,c.(4858-4860)gCc>gTc,6,489,0,98
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,BCL11B,64919,14,99640912,99640912,Missense_Mutation,SNP,G,A,c.(2260-2262)aCg>aTg,6,668,1,242
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,KLC1,3831,14,104159924,104159924,Intron,SNP,T,G,,56,386,0,123
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ASPG,374569,14,104565273,104565273,Silent,SNP,C,T,c.(595-597)tcC>tcT,6,439,0,146
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,TJP1,7082,15,29993888,29993888,Missense_Mutation,SNP,G,A,c.(5158-5160)Cct>Tct,15,57,0,68
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,FAN1,22909,15,31196976,31196976,Missense_Mutation,SNP,C,T,c.(109-111)gCa>gTa,4,70,0,51
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ACTC1,70,15,35084359,35084359,Missense_Mutation,SNP,C,T,c.(739-741)gGc>gAc,5,377,0,185
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,RASGRP1,10125,15,38857609,38857609,5'Flank,SNP,G,A,,5,355,0,88
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,DLL4,54567,15,41228677,41228677,Missense_Mutation,SNP,G,A,c.(1492-1494)Gac>Aac,5,344,0,131
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,GLDN,342035,15,51696634,51696634,Missense_Mutation,SNP,A,G,c.(1339-1341)Att>Gtt,72,148,0,79
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,CILP,8483,15,65489323,65489323,Missense_Mutation,SNP,C,T,c.(3301-3303)Gat>Aat,5,292,0,105
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ARIH1,25820,15,72864604,72864604,Intron,SNP,T,A,,4,20,0,17
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,IL16,3603,15,81591952,81591952,Missense_Mutation,SNP,A,G,c.(2284-2286)gAc>gGc,6,281,0,109
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,SEMA4B,10509,15,90744902,90744902,Missense_Mutation,SNP,T,A,c.(91-93)cTg>cAg,5,436,0,143
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ASB7,140460,15,101152614,101152614,Missense_Mutation,SNP,G,A,c.(193-195)Gtt>Att,6,364,0,173
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,RHOT2,89941,16,722077,722077,Intron,SNP,C,T,,45,186,0,76
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,BAIAP3,8938,16,1390966,1390966,Missense_Mutation,SNP,G,A,c.(556-558)cGa>cAa,6,566,0,172
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,IGFALS,3483,16,1841848,1841848,Missense_Mutation,SNP,G,A,c.(571-573)Cgc>Tgc,7,671,0,280
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ABCA3,21,16,2345656,2345656,Silent,SNP,G,A,c.(2347-2349)aaC>aaT,8,1154,0,424
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,SLX4,84464,16,3646371,3646371,Silent,SNP,C,T,c.(1705-1707)ccG>ccA,6,305,0,137
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PPL,5493,16,4952461,4952461,Silent,SNP,C,T,c.(382-384)gcG>gcA,5,429,0,169
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PLK1,5347,16,23692236,23692236,Splice_Site,SNP,G,A,c.(577-579)ggG>ggA,4,99,0,60
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,RABEP2,79874,16,28916371,28916371,Intron,SNP,G,A,,39,162,0,84
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,FBXL19,54620,16,30934514,30934514,5'Flank,SNP,A,G,,171,530,0,195
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ITGAM,3684,16,31336076,31336076,Missense_Mutation,SNP,G,T,c.(2260-2262)gaG>gaT,4,41,0,21
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,SLC6A2,6530,16,55719140,55719140,Missense_Mutation,SNP,G,A,c.(730-732)Gtc>Atc,8,802,0,331
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ADAMTS18,170692,16,77353782,77353782,Silent,SNP,G,A,c.(2494-2496)taC>taT,6,494,0,222
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,CTC1,80169,17,8132144,8132144,Silent,SNP,T,C,c.(3286-3288)gcA>gcG,20,418,0,128
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PEX12,5193,17,33904198,33904198,Missense_Mutation,SNP,C,T,c.(538-540)cGa>cAa,6,460,1,274
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,SRCIN1,80725,17,36718403,36718403,Silent,SNP,G,A,c.(994-996)taC>taT,4,61,0,72
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,CDK12,51755,17,37667867,37667867,Missense_Mutation,SNP,G,C,c.(2752-2754)Gat>Cat,23,100,0,82
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ACLY,47,17,40068759,40068759,Missense_Mutation,SNP,G,A,c.(196-198)Cgt>Tgt,6,435,0,140
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,HSD17B1,3292,17,40706441,40706441,Silent,SNP,C,T,c.(556-558)tgC>tgT,6,187,0,32
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,CRHR1,1394,17,43718824,43718824,Intron,SNP,A,G,,3,26,0,18
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,KCNH6,81033,17,61607793,61607793,Missense_Mutation,SNP,G,A,c.(565-567)Gtg>Atg,7,953,0,308
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ITGB4,3691,17,73726461,73726461,Missense_Mutation,SNP,C,T,c.(877-879)aCg>aTg,9,630,0,234
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PYCR1,5831,17,79892943,79892943,Silent,SNP,G,A,c.(397-399)acC>acT,6,626,1,276
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,LAMA1,284217,18,6950777,6950777,Intron,SNP,G,A,,6,716,0,262
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,CHST9,83539,18,24497148,24497148,Missense_Mutation,SNP,C,T,c.(406-408)cGt>cAt,5,163,0,137
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,MBD3,53615,19,1575265,1575265,IGR,SNP,T,C,,6,164,0,60
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,RANBP3,8498,19,5931497,5931497,Missense_Mutation,SNP,G,A,c.(610-612)aCg>aTg,5,291,0,80
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,DNMT1,1786,19,10247876,10247876,Silent,SNP,G,A,c.(4324-4326)atC>atT,7,586,0,251
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ZNF709,163051,19,12661275,12661275,Intron,SNP,A,G,,4,113,0,29
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,FARSA,2193,19,13044431,13044431,Missense_Mutation,SNP,G,A,c.(79-81)gCg>gTg,7,839,0,246
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,FCHO1,23149,19,17881602,17881602,Splice_Site,SNP,C,T,c.(490-492)gCg>gTg,5,246,0,75
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,KCNN1,3780,19,18109025,18109025,Missense_Mutation,SNP,G,A,c.(1441-1443)cGc>cAc,5,397,0,116
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,UPF1,5976,19,18976575,18976575,Silent,SNP,G,A,c.(3256-3258)ccG>ccA,6,369,0,153
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,HAUS5,23354,19,36110910,36110910,Intron,SNP,G,A,,6,134,1,48
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,GLTSCR1,29998,19,48205367,48205367,Missense_Mutation,SNP,G,A,c.(4378-4380)Ggg>Agg,6,439,0,219
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,GLTSCR2,29997,19,48258713,48258713,Missense_Mutation,SNP,C,T,c.(1162-1164)Cgg>Tgg,5,326,0,129
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,NLRP7,199713,19,55451347,55451347,Silent,SNP,G,A,c.(838-840)ccC>ccT,5,460,1,174
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ZNF582,147948,19,56896024,56896024,Silent,SNP,C,T,c.(760-762)ccG>ccA,4,107,0,97
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ZNF324B,388569,19,58966426,58966426,Intron,SNP,C,T,,33,284,0,113
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,MGME1,92667,20,17970704,17970704,Missense_Mutation,SNP,G,A,c.(634-636)Gga>Aga,5,158,0,131
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,SNTA1,6640,20,32031155,32031155,Missense_Mutation,SNP,C,T,c.(271-273)cGc>cAc,5,328,0,109
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,EMILIN3,90187,20,39989927,39989927,Missense_Mutation,SNP,C,T,c.(2281-2283)cGg>cAg,4,79,0,39
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PREX1,57580,20,47296288,47296288,Silent,SNP,G,A,c.(1438-1440)tcC>tcT,5,243,0,71
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,LAMA5,3911,20,60926789,60926789,Silent,SNP,G,A,c.(925-927)tgC>tgT,6,616,0,179
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,BTG3,10950,21,18976488,18976488,Intron,SNP,G,A,,4,110,0,26
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,FAM3B,54097,21,42719038,42719038,Intron,SNP,G,A,,7,303,0,97
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,C21orf2,755,21,45753111,45753111,Missense_Mutation,SNP,G,A,c.(178-180)Cgg>Tgg,6,475,0,137
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,GNB1L,54584,22,19789643,19789643,Missense_Mutation,SNP,C,T,c.(613-615)Gcc>Acc,7,866,1,253
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,MKL1,57591,22,40827455,40827455,Silent,SNP,A,T,c.(91-93)cgT>cgA,39,251,0,115
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,EP300,2033,22,41574665,41574665,Missense_Mutation,SNP,G,A,c.(6949-6951)cGg>cAg,24,192,0,91
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ACO2,50,22,41911803,41911803,Silent,SNP,C,T,c.(715-717)tcC>tcT,6,564,0,190
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,ZBED1,9189,X,2407293,2407293,Missense_Mutation,SNP,G,A,c.(1468-1470)Cgg>Tgg,6,726,0,280
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,PGK1,5230,X,77369609,77369609,Silent,SNP,C,A,c.(367-369)cgC>cgA,5,293,0,128
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,AMOT,154796,X,112058923,112058923,Missense_Mutation,SNP,G,A,c.(1054-1056)cCg>cTg,5,380,0,157
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,KIAA1210,57481,X,118230516,118230516,Missense_Mutation,SNP,C,A,c.(1207-1209)Gct>Tct,5,122,0,57
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,DEAF1,10522,11,694950,694979,In_Frame_Del,DEL,GCCGCGGCCGCGGCCGCCGCCGCCACAGCG,-,c.(67-99)gccgctgtggcggcggcggccgcggccgcggca>gca,7,226,,
RP-1532_PCProject_0445_T2_v4_Exome_OnPrem,APAF1,317,12,99056471,99056472,Frame_Shift_Ins,INS,-,A,c.(841-846)cctgtgfs,15,84,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SPEN,23013,1,16242772,16242772,Missense_Mutation,SNP,G,A,c.(1393-1395)Gtg>Atg,9,54,0,54
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SFPQ,6421,1,35658129,35658129,Silent,SNP,G,C,c.(520-522)gtC>gtG,4,32,0,22
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,C1orf228,339541,1,45190220,45190220,Silent,SNP,G,A,c.(928-930)gcG>gcA,14,136,0,184
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,GADD45A,1647,1,68151210,68151210,Missense_Mutation,SNP,G,T,c.(31-33)caG>caT,26,171,0,140
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CRNN,49860,1,152382376,152382376,Silent,SNP,C,T,c.(1180-1182)gaG>gaA,13,113,0,251
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,IGFN1,91156,1,201177826,201177826,Missense_Mutation,SNP,G,C,c.(3805-3807)Ggt>Cgt,8,38,0,70
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,NAV1,89796,1,201687702,201687702,Missense_Mutation,SNP,G,A,c.(1045-1047)Ggc>Agc,22,92,0,105
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,LAX1,54900,1,203734713,203734713,Missense_Mutation,SNP,C,A,c.(19-21)aCc>aAc,17,235,0,157
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,IBA57,200205,1,228363123,228363123,Missense_Mutation,SNP,T,C,c.(979-981)aTc>aCc,6,53,0,80
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,OBSCN,84033,1,228560181,228560181,Silent,SNP,G,A,c.(21700-21702)tcG>tcA,12,99,0,377
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,OR2L3,391192,1,248224785,248224785,Missense_Mutation,SNP,A,G,c.(802-804)Aca>Gca,23,149,0,165
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SNTG2,54221,2,1093913,1093913,Missense_Mutation,SNP,T,G,c.(241-243)gTt>gGt,24,79,0,147
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,APOB,338,2,21233784,21233784,Missense_Mutation,SNP,G,T,c.(5956-5958)Caa>Aaa,7,61,1,46
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,FAM161A,84140,2,62067315,62067315,Missense_Mutation,SNP,T,A,c.(823-825)gAt>gTt,19,105,0,142
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,MDH1,4190,2,63826311,63826311,Missense_Mutation,SNP,T,C,c.(382-384)gTt>gCt,17,144,0,85
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,FAM136A,84908,2,70528601,70528601,Intron,SNP,T,C,,10,119,0,141
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,POLR1A,25885,2,86305053,86305053,Missense_Mutation,SNP,C,A,c.(1309-1311)Gtg>Ttg,19,223,0,158
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,Unknown,0,2,104995800,104995800,IGR,SNP,C,T,,12,110,0,165
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ARHGEF4,50649,2,131673223,131673223,5'Flank,SNP,C,T,,7,54,0,135
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ARHGEF4,50649,2,131674471,131674471,5'UTR,SNP,C,T,,6,65,0,142
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,GLB1L,79411,2,220104650,220104650,Missense_Mutation,SNP,A,C,c.(712-714)tTt>tGt,43,206,0,231
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ALPP,250,2,233244915,233244915,Missense_Mutation,SNP,G,A,c.(676-678)cGa>cAa,5,44,0,122
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SNED1,25992,2,242033696,242033696,3'UTR,SNP,T,C,,9,86,0,77
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ANO7,50636,2,242162732,242162732,Intron,SNP,G,C,,9,86,0,104
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,TMEM43,79188,3,14170536,14170536,Intron,SNP,T,A,,5,46,0,34
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SCN5A,6331,3,38620835,38620835,Missense_Mutation,SNP,C,T,c.(3379-3381)gGg>gAg,4,22,0,78
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,COL7A1,1294,3,48627064,48627064,Missense_Mutation,SNP,G,C,c.(2137-2139)aCa>aGa,15,117,0,271
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,KALRN,8997,3,123798933,123798933,3'UTR,SNP,A,G,,16,115,0,82
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,UMPS,7372,3,124454041,124454041,Nonsense_Mutation,SNP,T,A,c.(256-258)tgT>tgA,26,188,0,128
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ITGB5,3693,3,124606586,124606586,5'Flank,SNP,G,A,,6,48,0,44
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,MCM2,4171,3,127323797,127323797,Silent,SNP,C,A,c.(469-471)gcC>gcA,20,123,0,237
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CLDN18,51208,3,137749921,137749921,Missense_Mutation,SNP,G,A,c.(724-726)Gat>Aat,13,119,0,95
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,MUC4,4585,3,195506189,195506189,Missense_Mutation,SNP,A,G,c.(12262-12264)Tca>Cca,13,107,0,345
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,FAM53A,152877,4,1643067,1643067,Missense_Mutation,SNP,G,A,c.(1150-1152)Ccc>Tcc,6,48,0,140
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,NSG1,0,4,4417899,4417899,Intron,SNP,G,C,,10,91,0,177
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,FAM184B,27146,4,17638277,17638277,Intron,SNP,A,G,,4,31,0,44
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,LCORL,254251,4,18023383,18023383,5'UTR,SNP,C,T,,7,41,0,38
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,KIT,3815,4,55589839,55589839,Missense_Mutation,SNP,T,A,c.(1321-1323)Tat>Aat,23,141,0,203
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,KIAA1211,57482,4,57182418,57182418,Missense_Mutation,SNP,G,A,c.(2749-2751)cGg>cAg,9,30,1,100
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CCDC158,339965,4,77288528,77288528,Silent,SNP,T,C,c.(1747-1749)cgA>cgG,26,140,0,139
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SCD5,79966,4,83674550,83674550,Intron,SNP,A,T,,18,145,0,162
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CFI,3426,4,110681448,110681448,Silent,SNP,C,A,c.(859-861)ggG>ggT,19,199,0,278
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,GUCY1A3,2982,4,156632063,156632063,Missense_Mutation,SNP,A,G,c.(745-747)aAt>aGt,18,91,0,71
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,RAPGEF2,9693,4,160268138,160268138,Missense_Mutation,SNP,C,G,c.(3217-3219)Ctc>Gtc,19,124,0,118
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,STOX2,56977,4,184930846,184930846,Missense_Mutation,SNP,T,A,c.(853-855)aaT>aaA,9,59,0,100
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,AQPEP,0,5,115297991,115297991,5'Flank,SNP,C,T,,8,55,0,148
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,AQPEP,0,5,115298704,115298704,Silent,SNP,C,T,c.(388-390)cgC>cgT,9,66,1,221
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CSF1R,1436,5,149459873,149459873,Missense_Mutation,SNP,C,T,c.(334-336)Gca>Aca,4,28,0,102
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PDGFRB,5159,5,149495360,149495360,Missense_Mutation,SNP,G,A,c.(3286-3288)gCg>gTg,4,32,0,55
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,GRM6,2916,5,178413929,178413929,Silent,SNP,G,A,c.(1408-1410)taC>taT,9,80,0,218
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,MRS2,57380,6,24408664,24408664,Missense_Mutation,SNP,C,G,c.(292-294)aCt>aGt,11,78,0,32
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,COL11A2,1302,6,33136518,33136518,Missense_Mutation,SNP,C,A,c.(3613-3615)Ggt>Tgt,16,114,0,292
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ANKS1A,23294,6,35052022,35052022,Missense_Mutation,SNP,G,C,c.(3118-3120)aGc>aCc,9,41,0,90
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,KCNK17,89822,6,39271779,39271779,Silent,SNP,G,A,c.(640-642)ttC>ttT,7,81,0,165
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,C6orf132,647024,6,42074357,42074357,Silent,SNP,T,C,c.(1291-1293)acA>acG,12,92,0,128
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,HSP90AB1,3326,6,44221303,44221303,Missense_Mutation,SNP,G,A,c.(2143-2145)Gag>Aag,33,225,0,134
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ELOVL5,60481,6,53159272,53159272,Intron,SNP,G,A,,10,105,0,62
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,TAAR3,9288,6,132929993,132929993,RNA,SNP,T,C,,10,101,0,110
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,FAM20C,56975,7,299850,299850,Silent,SNP,G,T,c.(1657-1659)gtG>gtT,10,111,0,280
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,FAM20C,56975,7,299881,299881,Missense_Mutation,SNP,A,G,c.(1690-1692)Aac>Gac,9,91,1,215
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,AP5Z1,9907,7,4827783,4827783,Splice_Site,SNP,A,C,c.e12-1,5,28,0,53
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,NRCAM,4897,7,107823187,107823187,Missense_Mutation,SNP,C,G,c.(2482-2484)Ggg>Cgg,22,140,0,177
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PRKAG2,51422,7,151478434,151478434,Silent,SNP,A,C,c.(268-270)tcT>tcG,25,69,0,148
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,KMT2C,58508,7,151859682,151859682,Silent,SNP,C,T,c.(10978-10980)tcG>tcA,46,153,0,163
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ADAM7,8756,8,24349530,24349530,Missense_Mutation,SNP,C,T,c.(1471-1473)Cct>Tct,22,122,0,118
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,NEFM,4741,8,24771744,24771744,Silent,SNP,G,A,c.(436-438)ctG>ctA,18,92,0,358
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,HNF4G,3174,8,76465382,76465382,Nonsense_Mutation,SNP,G,T,c.(454-456)Gaa>Taa,19,250,0,88
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CNGB3,54714,8,87590977,87590977,Silent,SNP,T,C,c.(2041-2043)ggA>ggG,24,301,0,267
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CYP11B1,1584,8,143957726,143957726,Silent,SNP,C,T,c.(883-885)ttG>ttA,15,97,0,295
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CYP11B1,1584,8,143957759,143957759,Missense_Mutation,SNP,T,A,c.(850-852)caA>caT,21,96,0,348
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CYP11B2,1585,8,143994101,143994101,Missense_Mutation,SNP,C,T,c.(1243-1245)Gcc>Acc,11,110,0,345
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PPP1R16A,84988,8,145722485,145722485,5'UTR,SNP,T,A,,5,22,0,50
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,TJP2,9414,9,71835957,71835957,Missense_Mutation,SNP,G,T,c.(496-498)gGg>gTg,32,121,0,344
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,FBP1,2203,9,97380055,97380055,Silent,SNP,T,G,c.(421-423)Aga>Cga,33,182,0,179
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,GPR144,347088,9,127230827,127230827,Missense_Mutation,SNP,G,A,c.(2182-2184)atG>atA,11,96,0,252
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,Unknown,0,9,133065285,133065285,IGR,SNP,G,C,,4,25,0,35
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SARDH,1757,9,136535695,136535695,Intron,SNP,G,A,,8,76,0,120
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SYT15,83849,10,46970574,46970574,5'Flank,SNP,C,G,,4,15,0,77
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ANTXRL,195977,10,47682813,47682813,Missense_Mutation,SNP,C,G,c.(1240-1242)cCt>cGt,5,48,0,77
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,UNC5B,219699,10,72972770,72972770,Missense_Mutation,SNP,G,T,c.(28-30)Gcg>Tcg,5,32,0,53
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,UNC5B,219699,10,72972771,72972771,Missense_Mutation,SNP,C,T,c.(28-30)gCg>gTg,5,32,0,54
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,AL133481.1,0,10,81266641,81266641,Silent,SNP,G,A,c.(934-936)acC>acT,13,155,0,422
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,LDB3,11155,10,88466345,88466345,Silent,SNP,C,T,c.(952-954)ccC>ccT,17,178,0,266
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,RBM20,282996,10,112541068,112541068,Missense_Mutation,SNP,C,A,c.(700-702)gCc>gAc,15,149,0,244
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,VAX1,11023,10,118893579,118893579,Silent,SNP,G,A,c.(943-945)gcC>gcT,8,97,0,249
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,KNDC1,85442,10,135015201,135015201,Silent,SNP,C,T,c.(3184-3186)gaC>gaT,4,22,0,60
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,NRIP3,56675,11,9005649,9005649,Silent,SNP,G,T,c.(583-585)tcC>tcA,22,90,0,99
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,TEAD1,7003,11,12901258,12901258,Missense_Mutation,SNP,C,G,c.(46-48)Cag>Gag,50,191,1,325
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ARHGAP1,392,11,46702221,46702221,Missense_Mutation,SNP,G,A,c.(712-714)Ccc>Tcc,3,10,0,25
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,Unknown,0,11,49000558,49000558,IGR,SNP,G,A,,18,224,0,209
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CDCA5,113130,11,64846795,64846795,Intron,SNP,G,A,,7,45,0,79
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,NPAS4,266743,11,66190209,66190209,Missense_Mutation,SNP,A,T,c.(493-495)aaA>aaT,19,137,0,193
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CTTN,2017,11,70265950,70265950,Missense_Mutation,SNP,G,A,c.(667-669)Gag>Aag,8,84,0,130
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,VSTM5,387804,11,93583590,93583590,Missense_Mutation,SNP,G,A,c.(79-81)Cgc>Tgc,9,108,0,172
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,OR8B4,283162,11,124294778,124294778,5'UTR,SNP,C,T,,3,12,0,23
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ST14,6768,11,130079477,130079477,Intron,SNP,G,C,,5,40,0,112
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ACRBP,84519,12,6756537,6756537,5'UTR,SNP,G,A,,9,72,0,61
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ADAMTS20,80070,12,43826246,43826246,Missense_Mutation,SNP,T,A,c.(2956-2958)gAa>gTa,24,67,0,59
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,KRT5,3852,12,52911690,52911690,Missense_Mutation,SNP,G,C,c.(916-918)ttC>ttG,34,138,1,271
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SMARCC2,6601,12,56565062,56565062,Missense_Mutation,SNP,C,A,c.(2245-2247)gaG>gaT,11,65,0,86
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,IGF1,3479,12,102811771,102811771,Missense_Mutation,SNP,G,A,c.(412-414)cCa>cTa,18,74,0,104
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ABCB9,23457,12,123424792,123424792,Silent,SNP,G,A,c.(1609-1611)Ctg>Ttg,4,21,0,61
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PIWIL1,9271,12,130827530,130827530,Intron,SNP,T,C,,20,126,0,138
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,GALNT9,50614,12,132811406,132811406,Silent,SNP,A,G,c.(280-282)gcT>gcC,4,31,0,90
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,GALNT9,50614,12,132811537,132811537,Missense_Mutation,SNP,T,G,c.(151-153)Aat>Cat,11,88,0,140
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SPATA13,221178,13,24798565,24798565,Intron,SNP,G,A,,13,122,0,175
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ABCC4,10257,13,95858818,95858818,Missense_Mutation,SNP,A,C,c.(1129-1131)Tca>Gca,35,121,0,138
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,TPP2,7174,13,103297260,103297260,Splice_Site,SNP,A,G,c.(2293-2295)cAt>cGt,23,128,0,64
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,MCF2L,23263,13,113556691,113556691,Intron,SNP,C,T,,4,31,0,47
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SALL2,6297,14,22005009,22005009,Missense_Mutation,SNP,C,A,c.(46-48)tGc>tTc,22,106,0,125
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,TRAJ61,28694,14,22942890,22942890,RNA,SNP,G,T,,17,234,0,160
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SLC25A21,89874,14,37641659,37641659,5'UTR,SNP,G,C,,10,117,0,194
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,FOXA1,3169,14,38061207,38061207,Missense_Mutation,SNP,C,G,c.(781-783)cGc>cCc,11,41,0,34
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SYNE2,23224,14,64685972,64685972,Missense_Mutation,SNP,T,A,c.(19633-19635)aaT>aaA,22,229,0,262
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SERPINA12,145264,14,94962897,94962897,Missense_Mutation,SNP,T,C,c.(718-720)Atg>Gtg,9,96,0,96
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CCDC85C,317762,14,100002432,100002432,Intron,SNP,G,A,,7,64,0,143
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ASPG,374569,14,104569928,104569928,Silent,SNP,C,T,c.(667-669)gaC>gaT,10,57,0,175
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,INF2,64423,14,105169762,105169762,Missense_Mutation,SNP,C,T,c.(637-639)gCg>gTg,13,147,0,429
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,AHNAK2,113146,14,105417867,105417867,Silent,SNP,G,A,c.(3919-3921)ggC>ggT,11,77,0,338
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PACS2,23241,14,105858084,105858084,Missense_Mutation,SNP,G,A,c.(2191-2193)Gga>Aga,5,37,0,83
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,IGHJ6,28475,14,106329424,106329424,RNA,SNP,C,T,,36,148,0,199
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,IGHV3-21,28444,14,106691749,106691749,RNA,SNP,T,C,,26,148,0,193
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,IGHV3-21,28444,14,106691809,106691809,RNA,SNP,C,A,,61,223,0,249
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,IGHV3-21,28444,14,106691880,106691880,RNA,SNP,G,A,,60,185,0,217
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,IGHV3-49,28423,14,107012951,107012951,RNA,SNP,T,A,,12,54,0,89
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,IGHV3-49,28423,14,107012993,107012993,RNA,SNP,T,C,,49,124,0,122
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,IGHV3-49,28423,14,107013057,107013057,RNA,SNP,C,T,,111,190,0,214
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,IGHV3-49,28423,14,107013138,107013138,RNA,SNP,T,A,,77,187,0,213
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,IGHV3-49,28423,14,107013140,107013140,RNA,SNP,G,A,,80,187,0,211
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,TJP1,7082,15,30025526,30025526,Intron,SNP,A,C,,7,28,0,60
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,FMN1,342184,15,33103170,33103170,Intron,SNP,G,A,,8,96,0,87
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,RMDN3,55177,15,41037213,41037213,Silent,SNP,G,T,c.(769-771)Cgg>Agg,6,48,0,87
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PLA2G4B,100137049,15,42133283,42133283,Silent,SNP,C,T,c.(382-384)Ctg>Ttg,6,8,0,27
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SPTBN5,51332,15,42170602,42170602,Silent,SNP,C,G,c.(3406-3408)tcG>tcC,5,28,0,163
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,STARD9,57519,15,42984288,42984288,Silent,SNP,A,G,c.(10510-10512)acA>acG,6,54,0,121
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,IGDCC3,9543,15,65621367,65621367,Silent,SNP,G,C,c.(2323-2325)ccC>ccG,8,82,0,136
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PPCDC,60490,15,75341067,75341067,Intron,SNP,G,A,,5,33,0,56
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,RP11-160C18.4,0,15,79045501,79045501,RNA,SNP,C,T,,6,32,0,89
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,LRRK1,79705,15,101555571,101555571,Missense_Mutation,SNP,A,G,c.(1573-1575)Acc>Gcc,11,97,0,94
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,LRRK1,79705,15,101555579,101555579,Silent,SNP,A,G,c.(1579-1581)agA>agG,11,97,0,98
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,RAB40C,57799,16,677633,677633,3'UTR,SNP,C,T,,2,1,0,18
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CCDC78,124093,16,773558,773558,Intron,SNP,G,A,,8,60,0,87
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,HAGHL,84264,16,778295,778295,Intron,SNP,C,A,,23,192,0,323
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,IFT140,9742,16,1569917,1569917,Silent,SNP,C,T,c.(4003-4005)agG>agA,11,29,0,47
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PRSS41,360226,16,2848516,2848516,RNA,SNP,C,T,,7,82,0,143
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PRSS41,360226,16,2848986,2848986,RNA,SNP,G,T,,11,129,0,194
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,IL27,246778,16,28518142,28518142,5'UTR,SNP,C,T,,17,80,0,102
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PHLPP2,23035,16,71757774,71757774,Intron,SNP,C,G,,3,14,0,41
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ZNF469,84627,16,88499454,88499454,Missense_Mutation,SNP,C,T,c.(5491-5493)cCg>cTg,8,59,0,148
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PIEZO1,9780,16,88802748,88802748,Silent,SNP,C,T,c.(1363-1365)acG>acA,8,82,0,182
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,TRAPPC2L,51693,16,88925989,88925989,Intron,SNP,A,G,,8,72,0,77
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,TCF25,22980,16,89975399,89975399,Intron,SNP,G,T,,8,91,0,117
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,GAS8,2622,16,90110950,90110950,3'UTR,SNP,C,T,,8,78,0,132
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,BCL6B,255877,17,6927958,6927958,Missense_Mutation,SNP,G,A,c.(640-642)Ggg>Agg,35,211,0,222
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,HNF1B,6928,17,36047328,36047328,3'UTR,SNP,A,C,,14,187,0,329
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,MSL1,339287,17,38290079,38290079,Splice_Site,SNP,G,C,c.e8-1,17,201,0,122
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SPOP,8405,17,47696689,47696689,Missense_Mutation,SNP,A,T,c.(259-261)Tac>Aac,28,131,0,116
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,MYO15B,80022,17,73590826,73590826,3'UTR,SNP,T,C,,7,79,0,134
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,GCGR,2642,17,79769652,79769652,Silent,SNP,G,A,c.(781-783)agG>agA,5,45,0,129
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,KIAA1328,57536,18,34647492,34647492,Nonsense_Mutation,SNP,C,T,c.(1216-1218)Cga>Tga,3,8,0,16
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SMAD7,4092,18,46476379,46476379,Missense_Mutation,SNP,C,A,c.(415-417)gGg>gTg,14,96,0,65
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,MED16,10025,19,871258,871258,Intron,SNP,G,A,,4,20,0,84
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,C19orf26,255057,19,1229844,1229844,Silent,SNP,G,A,c.(1510-1512)tcC>tcT,3,14,0,25
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PLK5,126520,19,1535205,1535205,Missense_Mutation,SNP,G,C,c.(967-969)Gga>Cga,13,105,0,227
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SPPL2B,56928,19,2341209,2341209,RNA,SNP,T,C,,12,103,0,273
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,THOP1,7064,19,2812325,2812325,Intron,SNP,C,T,,6,40,0,117
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PRAM1,84106,19,8563477,8563477,Silent,SNP,C,T,c.(1213-1215)ccG>ccA,5,24,0,82
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,NACC1,112939,19,13246606,13246606,Silent,SNP,C,T,c.(583-585)ggC>ggT,9,74,0,202
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,EPS15L1,58513,19,16506262,16506262,Missense_Mutation,SNP,T,C,c.(1807-1809)aAt>aGt,13,120,0,62
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,NWD1,284434,19,16855265,16855265,Missense_Mutation,SNP,A,G,c.(232-234)Att>Gtt,14,139,0,154
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,FAM129C,199786,19,17664262,17664262,Missense_Mutation,SNP,C,T,c.(1984-1986)Cac>Tac,28,263,0,252
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,FAM129C,199786,19,17664263,17664263,Missense_Mutation,SNP,A,C,c.(1984-1986)cAc>cCc,29,261,0,249
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ZNF99,7652,19,22939071,22939071,IGR,SNP,T,A,,8,50,0,50
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ZNF536,9745,19,31040082,31040082,Missense_Mutation,SNP,G,C,c.(3556-3558)Gaa>Caa,9,69,0,138
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CEBPA,1050,19,33792568,33792568,Silent,SNP,G,A,c.(751-753)agC>agT,3,9,0,84
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,GPI,2821,19,34890206,34890206,Missense_Mutation,SNP,G,T,c.(1363-1365)aGt>aTt,17,100,0,167
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PINLYP,390940,19,44083032,44083032,Intron,SNP,G,A,,2,1,0,8
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CCDC61,729440,19,46511421,46511421,Missense_Mutation,SNP,C,T,c.(412-414)cCg>cTg,7,55,0,96
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,AP2S1,1175,19,47342728,47342728,Silent,SNP,G,A,c.(259-261)ttC>ttT,10,112,0,99
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,NUCB1,4924,19,49421966,49421966,Intron,SNP,T,C,,8,96,0,117
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SSC5D,284297,19,56011545,56011545,Missense_Mutation,SNP,C,G,c.(2068-2070)Cag>Gag,4,28,0,81
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ZNF667-AS1,100128252,19,57005552,57005552,lincRNA,SNP,G,A,,6,51,0,61
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,FLRT3,23767,20,14307650,14307650,Missense_Mutation,SNP,G,T,c.(502-504)aCa>aAa,13,67,0,40
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,XKR7,343702,20,30585194,30585194,Silent,SNP,G,A,c.(1672-1674)acG>acA,9,55,1,81
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SRSF6,6431,20,42088871,42088871,Missense_Mutation,SNP,A,G,c.(580-582)Agc>Ggc,18,78,0,139
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,TP53TG5,27296,20,44003672,44003672,Intron,SNP,C,T,,4,18,0,49
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,C20orf201,0,20,62715318,62715318,Missense_Mutation,SNP,T,G,c.(253-255)gaA>gaC,6,65,0,151
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SLC2A11,66035,22,24227071,24227071,3'UTR,SNP,T,C,,4,23,0,29
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CBX7,23492,22,39530757,39530757,Splice_Site,SNP,G,A,c.(247-249)Cgg>Tgg,4,27,0,48
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CHADL,150356,22,41635555,41635555,Silent,SNP,C,T,c.(76-78)agG>agA,8,65,0,103
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PPP2R3B,28227,X,306214,306214,Intron,SNP,G,C,,10,112,1,324
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,HDHD1,8226,X,7066051,7066051,Intron,SNP,A,C,,9,111,0,95
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,FAM47B,170062,X,34961870,34961870,Missense_Mutation,SNP,C,T,c.(922-924)Cgc>Tgc,22,54,0,163
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,LINC00269,100996279,X,68424846,68424846,lincRNA,SNP,T,C,,8,37,0,52
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ACSL4,2182,X,108976535,108976535,5'UTR,SNP,G,A,,4,26,0,35
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,RGAG1,57529,X,109694034,109694034,Silent,SNP,A,T,c.(187-189)acA>acT,8,66,0,69
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,GABRA3,2556,X,151336819,151336819,Missense_Mutation,SNP,T,C,c.(1360-1362)Aag>Gag,26,78,1,125
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,FLNA,2316,X,153580576,153580576,Silent,SNP,G,A,c.(6742-6744)Ctg>Ttg,11,78,0,79
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,RUNX3,864,1,25256036,25256049,Intron,DEL,GCCCCAGGGCCGGC,-,,5,132,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,SMPD4,55627,2,130930494,130930495,Intron,INS,-,G,,5,30,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,TMPRSS11E,28983,4,69344677,69344688,In_Frame_Del,DEL,GGCTCCTTAGAA,-,c.(1078-1089)ggctccttagaadel,9,108,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,FAM218A,152756,4,165878380,165878394,In_Frame_Del,DEL,TCCAACAGCGGTCGC,-,c.(205-222)gtccaacagcggtcgctc>gtc,4,135,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,NUP155,9631,5,37302823,37302828,Intron,DEL,GGAATA,-,,3,71,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,NIM1,0,5,43206756,43206756,Intron,DEL,G,-,,8,19,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,KIF13A,63971,6,17817229,17817257,Splice_Site,DEL,CTGCCCCCGCTGCAGTTCTTACCTCTCTT,-,c.(1993-2001)gaagagagg>g,3,64,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PACSIN1,29993,6,34500312,34500316,3'UTR,DEL,CCCCT,-,,5,34,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,COL12A1,1303,6,75794881,75794885,3'UTR,DEL,CGCGG,-,,3,40,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PSKH2,85481,8,87081708,87081709,Frame_Shift_Del,DEL,CA,-,c.(142-144)gtgfs,9,63,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,PHF2,5253,9,96398871,96398885,Intron,DEL,TTGTCCCGCTATCCA,-,,4,7,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,AKR1C4,1109,10,5244459,5244475,Intron,DEL,TTTTTTACCTTGCCTGA,-,,5,120,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,Unknown,0,13,44544706,44544706,IGR,DEL,G,-,,13,99,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,KHNYN,23351,14,24911504,24911513,IGR,DEL,GCGCCGCCCA,-,,4,132,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,HEATR4,399671,14,73958212,73958223,Intron,DEL,CTGCGACGGCGT,-,,4,104,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,BRF1,2972,14,105715452,105715459,Intron,DEL,CGCGCGCG,-,,11,51,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,KIFC3,3801,16,57828999,57829007,In_Frame_Del,DEL,GCACTTCGG,-,c.(217-228)gcccgaagtgca>gca,7,190,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CNGB1,1258,16,57946715,57946716,Intron,INS,-,G,,4,8,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,AOC2,314,17,40997632,40997645,Frame_Shift_Del,DEL,CATTTACCTTTGGC,-,c.(988-1002)tcatttacctttggcfs,10,199,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,CSNK1G2,1455,19,1979100,1979101,Intron,DEL,GC,-,,4,11,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,C19orf71,100128569,19,3539214,3539215,Frame_Shift_Ins,INS,-,CCCTCGGGGA,c.(40-42)cccfs,4,138,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,ZNF283,284349,19,44351167,44351172,In_Frame_Del,DEL,GGAGAT,-,c.(412-420)tgggagatg>tgg,4,179,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,IGFL4,444882,19,46543528,46543539,In_Frame_Del,DEL,GGAAGCAGGGCC,-,c.(205-219)tggccctgcttccag>tag,6,250,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,TNNI3,7137,19,55665329,55665330,Intron,INS,-,CTAGGC,,6,52,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,MYLK2,85366,20,30411275,30411279,Splice_Site,DEL,CCCAG,-,c.e4-1,3,58,,
RP-1532_PCProject_0488_T1_v4_Exome_OnPrem,DCX,1641,X,110653954,110653960,Intron,DEL,TGAAATA,-,,3,74,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,CCNL2,81669,1,1325631,1325631,Missense_Mutation,SNP,A,G,c.(985-987)Ttc>Ctc,15,56,0,37
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,CITED4,163732,1,41327503,41327503,Silent,SNP,G,C,c.(295-297)cgC>cgG,7,9,0,10
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,OR10J1,26476,1,159410311,159410311,Missense_Mutation,SNP,C,T,c.(763-765)Ctc>Ttc,8,32,0,102
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,TRIM17,51127,1,228596217,228596217,Silent,SNP,G,A,c.(1117-1119)aaC>aaT,14,74,0,105
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,PRKD3,23683,2,37483811,37483811,Missense_Mutation,SNP,C,A,c.(2407-2409)Ggt>Tgt,5,12,0,45
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,IL18RAP,8807,2,103040583,103040583,Missense_Mutation,SNP,C,G,c.(382-384)cCc>cGc,4,11,0,39
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,NCK2,8440,2,106498311,106498311,Missense_Mutation,SNP,G,A,c.(754-756)Gtg>Atg,5,25,0,23
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,GMPPA,29926,2,220362558,220362558,5'Flank,SNP,G,C,,26,172,0,115
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,FGD5,152273,3,14942543,14942543,Missense_Mutation,SNP,G,A,c.(3238-3240)cGt>cAt,16,117,0,104
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,COL7A1,1294,3,48629677,48629677,Silent,SNP,C,T,c.(1096-1098)ggG>ggA,10,61,0,95
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,IQCF6,440956,3,51812939,51812939,Missense_Mutation,SNP,C,A,c.(22-24)caG>caT,7,17,0,68
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,ROBO2,6092,3,77671578,77671578,Missense_Mutation,SNP,T,C,c.(3754-3756)gTg>gCg,12,68,0,145
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,DOK7,285489,4,3495148,3495148,Missense_Mutation,SNP,G,A,c.(1435-1437)Ggc>Agc,12,51,0,41
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,ACTBL2,345651,5,56777820,56777820,Missense_Mutation,SNP,G,C,c.(715-717)Cgg>Ggg,6,31,0,105
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,GMNN,51053,6,24781701,24781701,Intron,SNP,A,G,,16,101,0,39
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,EHMT2,10919,6,31864386,31864386,Missense_Mutation,SNP,G,C,c.(325-327)Ctg>Gtg,2,0,0,18
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,CASD1,64921,7,94139524,94139524,Missense_Mutation,SNP,A,G,c.(127-129)tAc>tGc,24,53,0,55
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,TMEM168,64418,7,112413103,112413103,Missense_Mutation,SNP,C,A,c.(1279-1281)Ggt>Tgt,2,0,0,16
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,PDP1,54704,8,94930057,94930057,5'UTR,SNP,T,A,,28,104,0,84
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,PDE6C,5146,10,95394662,95394662,Missense_Mutation,SNP,G,C,c.(1267-1269)Gag>Cag,18,78,0,125
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,DMBT1,1755,10,124384814,124384814,Missense_Mutation,SNP,C,T,c.(5242-5244)aCg>aTg,21,86,0,146
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,TRIM21,6737,11,4406853,4406853,Missense_Mutation,SNP,G,A,c.(1090-1092)Cgc>Tgc,15,66,0,96
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,MICAL2,9645,11,12263915,12263915,Missense_Mutation,SNP,C,T,c.(2491-2493)cCg>cTg,10,66,0,40
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,ANAPC5,51433,12,121764967,121764967,Missense_Mutation,SNP,C,T,c.(1372-1374)Gtg>Atg,31,135,0,121
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,ZDHHC20,253832,13,21949173,21949173,IGR,SNP,T,C,,4,12,0,29
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,ABCC4,10257,13,95863028,95863028,Missense_Mutation,SNP,C,T,c.(538-540)cGt>cAt,32,92,0,62
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,MYH7,4625,14,23887232,23887232,Intron,SNP,G,A,,5,24,0,57
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,CHST14,113189,15,40764143,40764143,Missense_Mutation,SNP,G,C,c.(730-732)cGg>cCg,17,123,0,254
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,PDIA3,2923,15,44060716,44060716,Missense_Mutation,SNP,T,C,c.(1057-1059)cTg>cCg,12,66,0,47
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,FAM154B,283726,15,82574540,82574540,Missense_Mutation,SNP,G,C,c.(334-336)Gga>Cga,15,64,0,56
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,HEATR3,55027,16,50100457,50100457,Intron,SNP,C,A,,2,0,0,11
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,RFFL,117584,17,33348478,33348478,Missense_Mutation,SNP,C,A,c.(502-504)aGc>aTc,3,7,0,16
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,KRT26,353288,17,38928366,38928366,5'UTR,SNP,G,A,,5,13,0,57
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,HOXB3,3213,17,46627718,46627718,Missense_Mutation,SNP,G,A,c.(1273-1275)gCg>gTg,35,195,0,160
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,PRR11,55771,17,57262837,57262837,Missense_Mutation,SNP,C,T,c.(316-318)Cgt>Tgt,9,62,0,49
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,TK1,7083,17,76170946,76170946,Missense_Mutation,SNP,G,A,c.(598-600)cCg>cTg,54,190,0,87
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,ZNF837,116412,19,58879674,58879674,Silent,SNP,C,T,c.(1024-1026)ccG>ccA,10,64,0,85
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,MIR663A,724033,20,26188919,26188919,RNA,SNP,C,G,,5,25,0,35
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,PCBP3,54039,21,47330806,47330806,Intron,SNP,C,T,,2,0,0,27
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,ZNRF3,84133,22,29445646,29445646,Missense_Mutation,SNP,C,G,c.(1477-1479)Cgg>Ggg,20,104,0,56
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,TSPYL2,64061,X,53114080,53114080,Intron,SNP,C,T,,5,17,0,22
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,SEMA4A,64218,1,156144572,156144576,Intron,DEL,GATGA,-,,3,65,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,REG1A,5967,2,79349271,79349272,Intron,INS,-,T,,3,19,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,BUB1,699,2,111416347,111416348,Intron,INS,-,T,,3,22,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,JARID2,3720,6,15513393,15513394,Intron,INS,-,T,,4,3,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,PLA2G7,7941,6,46679443,46679444,Intron,INS,-,GAA,,3,7,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,FAM188B,84182,7,30811090,30811091,5'UTR,INS,-,CAGAGC,,5,172,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,FGL1,2267,8,17731683,17731702,Intron,DEL,ACCACCACCCACCCCCTGCT,-,,3,56,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,IMPAD1,54928,8,57905976,57905981,In_Frame_Del,DEL,CGGCCG,-,c.(163-171)gcggccgat>gat,4,85,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,MPP7,143098,10,28345283,28345284,Intron,INS,-,TG,,4,6,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,AMBRA1,55626,11,46456420,46456420,Frame_Shift_Del,DEL,T,-,c.(2800-2802)atgfs,4,12,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,KRT2,3849,12,53043627,53043645,Intron,DEL,GGCTGCTTAGACACAATGG,-,,3,90,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,UNC79,57578,14,94067104,94067105,Frame_Shift_Ins,INS,-,A,c.(3562-3564)cctfs,6,16,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,RNF111,54778,15,59373313,59373314,Frame_Shift_Ins,INS,-,C,c.(2128-2130)ccafs,36,122,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,TNRC6A,27327,16,24818117,24818118,Intron,INS,-,ATG,,3,18,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,SOGA2,0,18,8828873,8828877,Intron,DEL,CTTTT,-,,4,55,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,BRD4,23476,19,15355290,15355292,In_Frame_Del,DEL,GGT,-,c.(2329-2334)ccaccc>ccc,5,42,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,RYR1,6261,19,38980637,38980637,Intron,DEL,A,-,,3,17,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,MACROD2,140733,20,14032354,14032354,Intron,DEL,T,-,,1,0,,
RP-1532_PCProject_0495_T1_v2_Exome_OnPrem,NELFCD,51497,20,57561112,57561113,Intron,INS,-,A,,8,24,,
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TAS1R3,83756,1,1267622,1267622,Silent,SNP,C,T,c.(709-711)atC>atT,6,435,0,208
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,DFFB,1677,1,3776989,3776989,Intron,SNP,C,T,,5,333,0,97
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CHD5,26038,1,6166543,6166543,Silent,SNP,G,A,c.(5767-5769)taC>taT,7,395,0,131
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SRM,6723,1,11118956,11118956,Intron,SNP,G,A,,4,180,0,60
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MTOR,2475,1,11174880,11174880,Missense_Mutation,SNP,T,C,c.(7153-7155)aAt>aGt,5,293,0,89
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,DRAXIN,374946,1,11769385,11769385,Missense_Mutation,SNP,G,A,c.(505-507)Gaa>Aaa,6,352,0,89
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PADI4,23569,1,17681162,17681162,Missense_Mutation,SNP,C,A,c.(1288-1290)ttC>ttA,4,101,0,44
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,UBR4,23352,1,19486711,19486711,Missense_Mutation,SNP,G,T,c.(5470-5472)aCc>aAc,6,605,0,158
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PLA2G2C,391013,1,20499332,20499332,Missense_Mutation,SNP,C,A,c.(238-240)Gtg>Ttg,8,353,0,118
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,HSPG2,3339,1,22181240,22181240,Missense_Mutation,SNP,G,A,c.(6151-6153)cCg>cTg,5,275,0,130
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,HSPG2,3339,1,22202204,22202204,Missense_Mutation,SNP,G,A,c.(3220-3222)Cgg>Tgg,8,1105,1,416
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TIE1,7075,1,43779016,43779016,Missense_Mutation,SNP,G,A,c.(2137-2139)cGc>cAc,7,809,0,242
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ST3GAL3,6487,1,44395825,44395825,Nonsense_Mutation,SNP,C,T,c.(1060-1062)Cga>Tga,202,940,0,351
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,UROD,7389,1,45479294,45479294,Missense_Mutation,SNP,C,T,c.(304-306)cCt>cTt,93,698,0,229
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,IL23R,149233,1,67635117,67635117,Missense_Mutation,SNP,G,A,c.(163-165)Gca>Aca,5,304,0,156
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,LRRC53,100144878,1,74946515,74946515,Missense_Mutation,SNP,C,T,c.(226-228)Gcc>Acc,7,836,0,204
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FAM73A,374986,1,78324745,78324745,Intron,SNP,C,T,,5,209,0,54
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,NGF,4803,1,115828762,115828762,Missense_Mutation,SNP,C,A,c.(655-657)Gcc>Tcc,47,180,0,60
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,HRNR,388697,1,152191645,152191645,Silent,SNP,G,A,c.(2458-2460)caC>caT,8,969,0,206
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ATP8B2,57198,1,154321398,154321398,Missense_Mutation,SNP,G,A,c.(3475-3477)cGc>cAc,8,830,0,253
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,IGSF8,93185,1,160062842,160062842,Missense_Mutation,SNP,G,A,c.(1183-1185)gCt>gTt,7,760,0,186
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ATP1A2,477,1,160105722,160105722,Missense_Mutation,SNP,C,T,c.(2377-2379)gCc>gTc,6,460,0,81
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,NCSTN,23385,1,160323995,160323995,Missense_Mutation,SNP,C,T,c.(1267-1269)Cca>Tca,6,819,0,168
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PVRL4,81607,1,161049656,161049656,Nonsense_Mutation,SNP,G,A,c.(163-165)Cga>Tga,5,438,0,125
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ILDR2,387597,1,166926084,166926084,Missense_Mutation,SNP,C,A,c.(385-387)Gat>Tat,18,153,0,64
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,F5,2153,1,169489788,169489788,Nonsense_Mutation,SNP,G,A,c.(6163-6165)Cga>Tga,6,492,0,215
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,DHX9,1660,1,182847207,182847207,Silent,SNP,C,T,c.(2248-2250)acC>acT,8,713,0,181
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,C1orf53,388722,1,197872053,197872053,Intron,SNP,C,G,,25,149,0,58
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,KIF21B,23046,1,200960844,200960844,Nonsense_Mutation,SNP,G,A,c.(2395-2397)Cga>Tga,8,618,0,140
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SLC45A3,85414,1,205632666,205632666,Missense_Mutation,SNP,G,A,c.(253-255)Cgc>Tgc,5,389,0,103
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,NUCKS1,64710,1,205688741,205688741,Missense_Mutation,SNP,G,A,c.(445-447)tCg>tTg,5,264,0,96
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PLXNA2,5362,1,208390967,208390967,Nonsense_Mutation,SNP,G,A,c.(301-303)Cag>Tag,9,903,0,186
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CAMK1G,57172,1,209785461,209785461,Missense_Mutation,SNP,G,A,c.(1240-1242)Ggg>Agg,7,1338,1,259
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TP53BP2,7159,1,223986090,223986090,Missense_Mutation,SNP,G,A,c.(1774-1776)aCt>aTt,9,1621,0,329
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,DNAH14,127602,1,225428402,225428402,Missense_Mutation,SNP,G,A,c.(5344-5346)cGt>cAt,5,280,0,160
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,GUK1,2987,1,228333355,228333355,Intron,SNP,G,A,,5,228,0,73
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,OBSCN,84033,1,228403497,228403497,Missense_Mutation,SNP,G,A,c.(2062-2064)Ggc>Agc,5,319,0,81
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,OBSCN,84033,1,228474615,228474615,Missense_Mutation,SNP,G,A,c.(9418-9420)cGg>cAg,245,435,0,176
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,HIST3H3,8290,1,228612631,228612631,Silent,SNP,G,A,c.(394-396)cgC>cgT,8,1070,0,195
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,GTF3C2,2976,2,27558480,27558480,Missense_Mutation,SNP,C,T,c.(1561-1563)Gct>Act,5,438,0,112
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,WDR43,23160,2,29136999,29136999,Missense_Mutation,SNP,A,G,c.(670-672)gAg>gGg,8,293,0,132
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FBXO11,80204,2,48046210,48046210,Missense_Mutation,SNP,T,C,c.(1804-1806)aAg>aGg,5,162,0,82
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ARHGAP25,9938,2,69049611,69049611,Missense_Mutation,SNP,G,A,c.(1336-1338)cGg>cAg,130,650,0,166
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TMEM127,55654,2,96919744,96919744,Silent,SNP,G,A,c.(517-519)ttC>ttT,8,1095,0,331
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CNNM3,26505,2,97492727,97492727,Intron,SNP,G,A,,4,100,0,36
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ANKRD36,375248,2,97875618,97875618,Intron,SNP,G,T,,12,407,0,190
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,BCL2L11,10018,2,111921737,111921737,Missense_Mutation,SNP,G,A,c.(526-528)Gaa>Aaa,55,435,0,149
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,STEAP3,55240,2,120012379,120012379,Silent,SNP,G,A,c.(1138-1140)ccG>ccA,8,764,0,181
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ERCC3,2071,2,128038179,128038179,Silent,SNP,G,A,c.(1369-1371)atC>atT,7,803,0,196
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,GPR17,2840,2,128409176,128409176,Silent,SNP,C,T,c.(949-951)aaC>aaT,6,543,1,146
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,UGGT1,56886,2,128848982,128848982,Silent,SNP,G,A,c.(49-51)ccG>ccA,6,782,0,154
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CERS6,253782,2,169417809,169417809,Silent,SNP,G,A,c.(382-384)acG>acA,84,494,0,131
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,LRP2,4036,2,170092515,170092515,Silent,SNP,G,A,c.(4753-4755)gaC>gaT,7,642,0,149
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FAM171B,165215,2,187558981,187558981,Silent,SNP,C,T,c.(79-81)ccC>ccT,182,921,0,316
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SPEG,10290,2,220332031,220332031,Missense_Mutation,SNP,G,A,c.(3016-3018)cGc>cAc,6,796,1,203
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CHPF,79586,2,220406818,220406818,Silent,SNP,G,A,c.(406-408)gcC>gcT,5,350,0,136
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ATG16L1,55054,2,234160566,234160566,Silent,SNP,G,A,c.(91-93)gcG>gcA,7,704,0,158
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ESPNL,339768,2,239013354,239013354,Silent,SNP,G,A,c.(541-543)gaG>gaA,95,292,0,118
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,KLHL30,377007,2,239059638,239059638,Missense_Mutation,SNP,G,A,c.(1669-1671)Ggg>Agg,6,690,0,291
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PRR21,643905,2,240982316,240982316,Silent,SNP,G,A,c.(82-84)ttC>ttT,7,442,0,118
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PRRT3,285368,3,9988263,9988263,Missense_Mutation,SNP,G,A,c.(2593-2595)tCc>tTc,3,27,0,14
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SCN5A,6331,3,38622688,38622688,Missense_Mutation,SNP,G,A,c.(2962-2964)Cgg>Tgg,6,404,0,115
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,VIPR1,7433,3,42568902,42568902,Silent,SNP,C,T,c.(415-417)taC>taT,5,300,0,80
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PLXNB1,5364,3,48445987,48445987,Missense_Mutation,SNP,G,A,c.(6313-6315)gCc>gTc,7,338,0,90
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TMEM89,440955,3,48658943,48658943,Missense_Mutation,SNP,G,A,c.(247-249)Cgc>Tgc,8,1415,0,405
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,BSN,8927,3,49694676,49694676,Missense_Mutation,SNP,C,T,c.(7687-7689)Cgg>Tgg,103,399,0,153
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZMYND10,51364,3,50380426,50380426,Missense_Mutation,SNP,C,T,c.(622-624)cGt>cAt,6,582,0,162
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SEMA3G,56920,3,52470023,52470023,Missense_Mutation,SNP,C,T,c.(1945-1947)Gat>Aat,5,387,0,97
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,GABRR3,200959,3,97711867,97711867,RNA,SNP,G,A,,5,194,0,48
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,HGD,3081,3,120365868,120365868,Silent,SNP,G,A,c.(499-501)acC>acT,7,913,0,237
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ADCY5,111,3,123005544,123005544,Silent,SNP,G,A,c.(3643-3645)ccC>ccT,5,401,0,68
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ITGB5,3693,3,124492640,124492640,Missense_Mutation,SNP,G,A,c.(1813-1815)Cgt>Tgt,9,1266,1,294
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,IFT122,55764,3,129238005,129238005,Silent,SNP,G,A,c.(3445-3447)ccG>ccA,7,1176,0,281
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PLXND1,23129,3,129292508,129292508,Silent,SNP,G,A,c.(2764-2766)gaC>gaT,7,652,0,138
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TOPBP1,11073,3,133358856,133358856,Missense_Mutation,SNP,G,A,c.(2179-2181)aCg>aTg,45,412,0,202
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ESYT3,83850,3,138170917,138170917,Missense_Mutation,SNP,G,A,c.(355-357)Gag>Aag,6,608,0,113
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,DNAJC19,131118,3,180701723,180701723,3'UTR,SNP,T,C,,5,125,0,88
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,DNAJC19,131118,3,180707566,180707566,5'Flank,SNP,A,G,,5,495,0,121
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ABCC5,10057,3,183689509,183689509,Missense_Mutation,SNP,G,A,c.(1603-1605)Cgc>Tgc,7,1188,0,339
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,VWA5B2,90113,3,183952539,183952539,Missense_Mutation,SNP,G,A,c.(940-942)cGg>cAg,5,442,0,105
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ACAP2,23527,3,195016621,195016621,Splice_Site,SNP,T,C,c.(1486-1488)agA>agG,9,63,0,53
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,APOD,347,3,195304052,195304052,Intron,SNP,C,T,,6,298,0,71
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,Unknown,0,3,195345986,195345986,IGR,SNP,C,G,,96,1423,0,834
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF721,170960,4,436752,436752,Missense_Mutation,SNP,C,T,c.(1468-1470)Gaa>Aaa,7,388,0,184
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,WHSC1,7468,4,1978413,1978413,Intron,SNP,G,A,,5,240,0,54
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,Unknown,0,4,2598015,2598015,IGR,SNP,G,A,,6,428,0,103
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,HS3ST1,9957,4,11400975,11400975,Missense_Mutation,SNP,G,A,c.(655-657)Cgc>Tgc,6,708,0,178
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CPEB2,132864,4,15010031,15010031,Missense_Mutation,SNP,G,A,c.(703-705)Gga>Aga,5,384,1,145
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,NCAPG,64151,4,17835989,17835989,Missense_Mutation,SNP,C,T,c.(1951-1953)aCg>aTg,4,159,0,76
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PCDH7,5099,4,30921974,30921974,Missense_Mutation,SNP,C,A,c.(3373-3375)gCa>gAa,6,386,0,89
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,KIAA1239,0,4,37432275,37432275,Missense_Mutation,SNP,G,A,c.(439-441)Gcc>Acc,6,641,0,176
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,C4orf19,55286,4,37462548,37462548,Intron,SNP,G,A,,6,176,0,47
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,C4orf19,55286,4,37462622,37462622,Intron,SNP,G,A,,4,84,0,39
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TBC1D1,23216,4,38016198,38016198,Silent,SNP,G,A,c.(484-486)ccG>ccA,6,513,0,126
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MTTP,4547,4,100543904,100543904,Missense_Mutation,SNP,G,A,c.(2584-2586)Gta>Ata,8,669,0,274
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,DCHS2,54798,4,155264784,155264784,Missense_Mutation,SNP,T,C,c.(814-816)gAt>gGt,4,76,0,31
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,GLRB,2743,4,158074000,158074000,Silent,SNP,G,T,c.(1033-1035)gtG>gtT,12,816,0,238
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,GALNT7,51809,4,174216951,174216951,Missense_Mutation,SNP,G,A,c.(922-924)Gtt>Att,5,338,0,159
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RP11-487E13.1,0,4,178169405,178169405,Missense_Mutation,SNP,T,C,c.(28-30)Act>Gct,7,492,1,135
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TENM3,55714,4,183696105,183696105,Silent,SNP,C,T,c.(5101-5103)gaC>gaT,7,615,0,170
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,AHRR,57491,5,428030,428030,Missense_Mutation,SNP,G,A,c.(829-831)Gtt>Att,9,1411,0,344
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CEP72,55722,5,647987,647987,Silent,SNP,C,T,c.(1732-1734)taC>taT,6,532,0,135
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SLC6A3,6531,5,1409229,1409229,Silent,SNP,G,A,c.(1408-1410)taC>taT,8,1546,0,394
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SLC6A3,6531,5,1411367,1411367,Silent,SNP,G,A,c.(1258-1260)atC>atT,8,1190,0,305
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,AGXT2,64902,5,35013131,35013131,Silent,SNP,C,T,c.(1114-1116)gcG>gcA,104,720,0,275
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,GDNF,2668,5,37834811,37834811,Missense_Mutation,SNP,C,T,c.(88-90)Gag>Aag,89,365,0,114
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MAST4,375449,5,66459451,66459451,Missense_Mutation,SNP,C,T,c.(4444-4446)Cgg>Tgg,6,660,0,227
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FCHO2,115548,5,72333712,72333712,Intron,SNP,A,G,,4,132,0,35
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PCDHA8,56140,5,140222709,140222709,Silent,SNP,G,A,c.(1801-1803)tcG>tcA,6,643,0,186
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PCDHB5,26167,5,140516043,140516043,Missense_Mutation,SNP,G,A,c.(1027-1029)Gcc>Acc,5,309,0,92
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PDGFRB,5159,5,149495428,149495428,Silent,SNP,C,T,c.(3217-3219)gaG>gaA,8,404,0,105
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CAMK2A,815,5,149602674,149602674,Silent,SNP,G,A,c.(1309-1311)taC>taT,8,1365,0,358
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CLINT1,9685,5,157233043,157233043,Missense_Mutation,SNP,G,A,c.(772-774)aCg>aTg,7,1022,0,299
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CCNJL,79616,5,159686585,159686585,Silent,SNP,G,A,c.(616-618)tcC>tcT,6,848,0,220
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,WWC1,23286,5,167891774,167891774,Missense_Mutation,SNP,G,A,c.(2956-2958)cGt>cAt,6,673,0,155
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,DRD1,1812,5,174868996,174868996,Silent,SNP,C,T,c.(1105-1107)gcG>gcA,6,347,0,98
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,DDX41,51428,5,176938834,176938834,Silent,SNP,G,A,c.(1825-1827)atC>atT,6,468,0,114
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,KIF13A,63971,6,17882188,17882188,Intron,SNP,C,T,,4,84,0,29
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZKSCAN4,387032,6,28219525,28219525,Silent,SNP,G,A,c.(232-234)tgC>tgT,7,780,0,197
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,AGPAT1,10554,6,32138372,32138372,Missense_Mutation,SNP,T,G,c.(340-342)Atg>Ctg,21,1259,0,282
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,VPS52,6293,6,33234430,33234430,Silent,SNP,G,A,c.(1183-1185)cgC>cgT,31,207,0,56
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZBTB9,221504,6,33423774,33423774,Silent,SNP,C,T,c.(895-897)agC>agT,5,238,0,42
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CLPS,1208,6,35763523,35763523,Silent,SNP,G,A,c.(190-192)agC>agT,7,834,0,163
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SRPK1,6732,6,35837423,35837423,Missense_Mutation,SNP,G,A,c.(1246-1248)cCt>cTt,4,177,0,107
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RNF8,9025,6,37349101,37349101,Missense_Mutation,SNP,G,A,c.(1411-1413)cGa>cAa,6,153,0,83
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,KCNK5,8645,6,39159001,39159001,Missense_Mutation,SNP,C,T,c.(1165-1167)Gag>Aag,7,703,1,167
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,KLC4,89953,6,43039340,43039340,Missense_Mutation,SNP,C,T,c.(1291-1293)Cgg>Tgg,5,224,0,36
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CUL9,23113,6,43181595,43181595,Missense_Mutation,SNP,G,A,c.(5632-5634)cGt>cAt,7,872,0,198
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SLC29A1,2030,6,44191315,44191315,5'UTR,SNP,C,T,,7,366,0,77
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CDK19,23097,6,110953250,110953250,Missense_Mutation,SNP,T,G,c.(628-630)cAt>cCt,56,384,0,214
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MAN1A1,4121,6,119510943,119510943,Missense_Mutation,SNP,C,T,c.(1432-1434)Gcg>Acg,8,1314,0,307
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MED23,9439,6,131917121,131917121,Silent,SNP,T,G,c.(2959-2961)ctA>ctC,30,206,1,132
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,UTRN,7402,6,145120619,145120619,Intron,SNP,C,G,,4,203,1,94
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SDK1,221935,7,4153759,4153759,Missense_Mutation,SNP,G,A,c.(3676-3678)Gcc>Acc,10,1259,0,325
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,USP42,84132,7,6193913,6193913,Missense_Mutation,SNP,G,A,c.(2728-2730)Ggt>Agt,6,445,0,124
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ICA1,3382,7,8167647,8167647,Missense_Mutation,SNP,C,T,c.(1186-1188)Gct>Act,8,1165,1,285
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ANLN,54443,7,36456703,36456703,Missense_Mutation,SNP,G,A,c.(1537-1539)Gaa>Aaa,4,115,0,48
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SFRP4,6424,7,37955897,37955897,Silent,SNP,G,A,c.(241-243)taC>taT,10,1154,0,269
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF716,441234,7,57529048,57529048,Missense_Mutation,SNP,A,G,c.(880-882)aAa>aGa,6,381,1,216
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF680,340252,7,63982117,63982117,Missense_Mutation,SNP,T,C,c.(1015-1017)Aaa>Gaa,5,307,1,165
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF92,168374,7,64864564,64864564,Missense_Mutation,SNP,A,G,c.(1537-1539)Aaa>Gaa,5,183,0,112
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,DYNC1I1,1780,7,95739378,95739378,Missense_Mutation,SNP,A,G,c.(1804-1806)Aca>Gca,5,244,1,101
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,LMTK2,22853,7,97822306,97822306,Silent,SNP,G,A,c.(2527-2529)acG>acA,5,301,0,106
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZKSCAN5,23660,7,99111401,99111401,Intron,SNP,T,A,,6,107,0,18
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MUC12,10071,7,100634833,100634833,Missense_Mutation,SNP,C,T,c.(1417-1419)tCg>tTg,9,885,1,311
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MOGAT3,346606,7,100841559,100841559,Missense_Mutation,SNP,G,A,c.(580-582)gCg>gTg,5,307,0,94
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TMEM168,64418,7,112415366,112415366,Missense_Mutation,SNP,T,C,c.(1135-1137)aAt>aGt,4,159,0,85
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RP11-1220K2.2,0,7,141918338,141918338,Intron,SNP,C,T,,12,41,0,37
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SSPO,23145,7,149492436,149492436,RNA,SNP,G,A,,6,443,0,128
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,GIMAP1,170575,7,150417880,150417880,Missense_Mutation,SNP,G,A,c.(787-789)cGg>cAg,6,573,0,145
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,KCNH2,3757,7,150647323,150647323,Silent,SNP,G,A,c.(2329-2331)acC>acT,4,193,0,88
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ABCB8,11194,7,150742390,150742390,Missense_Mutation,SNP,C,T,c.(2161-2163)cCg>cTg,5,270,0,91
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MFHAS1,9258,8,8748797,8748797,Missense_Mutation,SNP,G,A,c.(1771-1773)cCc>cTc,6,685,0,178
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,XKR6,286046,8,10756048,10756048,Missense_Mutation,SNP,G,A,c.(1339-1341)aCg>aTg,7,542,0,171
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,WRN,7486,8,30946482,30946482,Splice_Site,SNP,G,A,c.e13+1,5,373,0,189
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,WHSC1L1,54904,8,38173553,38173553,Silent,SNP,G,A,c.(1861-1863)agC>agT,5,164,0,64
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FGFR1,2260,8,38297867,38297867,Intron,SNP,G,A,,51,329,0,79
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,KAT6A,7994,8,41795055,41795055,Missense_Mutation,SNP,C,A,c.(3070-3072)cGa>cTa,6,87,0,62
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PRKDC,5591,8,48752677,48752677,Nonsense_Mutation,SNP,G,A,c.(7351-7353)Cga>Tga,4,227,0,93
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RP11-110G21.1,0,8,52859275,52859275,RNA,SNP,G,A,,117,486,0,177
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,XKR9,389668,8,71595774,71595774,Intron,SNP,C,G,,6,666,0,133
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,LRRC69,100130742,8,92130455,92130455,Intron,SNP,G,A,,7,486,0,120
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,DPY19L4,286148,8,95738660,95738660,Missense_Mutation,SNP,G,A,c.(118-120)Gct>Act,5,143,0,84
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,NACAP1,83955,8,102381479,102381479,RNA,SNP,G,A,,6,630,0,198
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CSMD3,114788,8,113347559,113347559,Splice_Site,SNP,G,A,c.(7162-7164)caC>caT,5,374,0,190
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SAMD12,401474,8,119593109,119593109,Missense_Mutation,SNP,G,A,c.(37-39)Cgg>Tgg,5,113,0,71
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MYC,4609,8,128748870,128748870,Splice_Site,SNP,G,A,c.e1+1,6,577,0,192
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,KCNQ3,3786,8,133187832,133187832,Silent,SNP,G,A,c.(799-801)atC>atT,7,858,0,255
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,KIAA1875,340390,8,145163961,145163961,Silent,SNP,G,A,c.(886-888)tcG>tcA,6,469,0,127
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SLC39A4,55630,8,145640687,145640687,Silent,SNP,G,A,c.(589-591)caC>caT,7,822,0,263
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FAM154A,158297,9,18941680,18941680,Nonsense_Mutation,SNP,T,A,c.(376-378)Aaa>Taa,99,529,1,193
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FAM219A,203259,9,34402710,34402710,Nonsense_Mutation,SNP,G,A,c.(256-258)Cga>Tga,5,343,0,80
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FAM122A,116224,9,71395159,71395159,Missense_Mutation,SNP,G,A,c.(79-81)Ggc>Agc,4,80,0,13
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RP11-522I20.3,0,9,86327903,86327903,RNA,SNP,G,A,,4,96,0,36
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SLC28A3,64078,9,86895780,86895780,Silent,SNP,G,A,c.(1663-1665)atC>atT,6,339,1,139
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SLC31A1,1317,9,116021152,116021152,Intron,SNP,G,A,,7,453,0,158
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PAPPA,5069,9,119093546,119093546,Missense_Mutation,SNP,T,A,c.(3169-3171)gaT>gaA,6,469,0,138
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CDK9,1025,9,130551776,130551776,Missense_Mutation,SNP,G,A,c.(1072-1074)cGc>cAc,5,366,0,112
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,UCK1,83549,9,134404624,134404624,Silent,SNP,G,A,c.(397-399)gaC>gaT,6,491,0,107
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SURF4,6836,9,136233511,136233511,Silent,SNP,G,A,c.(274-276)taC>taT,7,836,0,186
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PMPCA,23203,9,139313550,139313550,Missense_Mutation,SNP,G,A,c.(1255-1257)Gtg>Atg,7,711,1,192
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,C9orf172,389813,9,139739275,139739275,Missense_Mutation,SNP,C,T,c.(409-411)Ccg>Tcg,4,83,0,23
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ENTPD8,377841,9,140327992,140327992,IGR,SNP,G,A,,6,516,0,180
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,Unknown,0,10,30993507,30993507,IGR,SNP,G,A,,151,731,0,235
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF33A,7581,10,38328421,38328421,Intron,SNP,G,C,,8,373,0,115
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PALD1,27143,10,72289798,72289798,Missense_Mutation,SNP,C,A,c.(442-444)Cag>Aag,4,115,0,53
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ASCC1,51008,10,73856345,73856345,3'UTR,SNP,G,A,,4,136,0,47
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,NDST2,8509,10,75567397,75567397,Silent,SNP,G,A,c.(748-750)ccC>ccT,6,842,0,210
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FAS,355,10,90774474,90774474,3'UTR,SNP,G,T,,5,306,0,175
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SFRP5,6425,10,99527439,99527439,Silent,SNP,C,T,c.(784-786)gcG>gcA,5,463,0,118
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TACC2,10579,10,123848030,123848030,Missense_Mutation,SNP,G,C,c.(5497-5499)Gtt>Ctt,36,259,0,131
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CTBP2,1488,10,126716244,126716244,Intron,SNP,C,T,,6,495,0,131
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PTPRE,5791,10,129881191,129881191,3'UTR,SNP,T,A,,4,64,0,41
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MUC5B,727897,11,1274231,1274231,Intron,SNP,G,A,,7,506,0,167
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CD81,975,11,2415267,2415267,Intron,SNP,G,A,,6,600,0,173
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CARS,833,11,3059364,3059364,Silent,SNP,C,T,c.(466-468)caG>caA,60,348,0,115
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TRIM6,117854,11,5624510,5624510,De_novo_Start_OutOfFrame,SNP,G,A,,5,241,0,82
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,C11orf42,160298,11,6231550,6231550,Silent,SNP,G,A,c.(541-543)gaG>gaA,7,974,0,269
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,DNHD1,144132,11,6561178,6561178,Missense_Mutation,SNP,C,T,c.(3493-3495)Cgc>Tgc,12,1184,0,287
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ABTB2,25841,11,34184211,34184211,Silent,SNP,G,A,c.(2128-2130)agC>agT,8,945,1,274
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,Unknown,0,11,49002842,49002842,IGR,SNP,G,A,,8,761,0,181
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,OR5L2,26338,11,55595435,55595435,Silent,SNP,C,T,c.(739-741)gcC>gcT,41,337,0,122
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,OR5L2,26338,11,55595446,55595446,Missense_Mutation,SNP,C,T,c.(751-753)tCc>tTc,51,344,0,133
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,NRXN2,9379,11,64427941,64427941,Missense_Mutation,SNP,G,A,c.(2251-2253)aCg>aTg,8,1583,1,474
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ATG2A,23130,11,64675078,64675078,Missense_Mutation,SNP,C,G,c.(2566-2568)Gcc>Ccc,23,212,1,57
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FOSL1,8061,11,65664342,65664342,Missense_Mutation,SNP,G,A,c.(235-237)Cgg>Tgg,5,290,0,77
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,BBS1,582,11,66290986,66290986,Missense_Mutation,SNP,G,A,c.(889-891)cGg>cAg,7,1057,0,329
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FGF4,2249,11,69589640,69589640,Silent,SNP,G,A,c.(211-213)agC>agT,7,687,1,284
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TRPC6,7225,11,101454107,101454107,Missense_Mutation,SNP,C,T,c.(127-129)tGc>tAc,11,525,0,130
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CCDC84,338657,11,118881947,118881947,Missense_Mutation,SNP,G,A,c.(466-468)cGt>cAt,6,527,0,100
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,KCNA5,3741,12,5154887,5154887,Missense_Mutation,SNP,G,A,c.(1573-1575)cGg>cAg,5,557,0,199
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SLCO1C1,53919,12,20864444,20864444,Splice_Site,SNP,G,A,c.(529-531)Gaa>Aaa,4,125,0,69
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ABCC9,10060,12,22001094,22001094,Missense_Mutation,SNP,G,T,c.(2854-2856)gaC>gaA,62,342,0,186
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ADAMTS20,80070,12,43896081,43896081,Silent,SNP,T,C,c.(739-741)agA>agG,20,123,0,75
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SLC48A1,55652,12,48174625,48174625,3'UTR,SNP,T,C,,6,410,0,97
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ADCY6,112,12,49170298,49170298,Missense_Mutation,SNP,C,A,c.(1447-1449)gGc>gTc,136,370,0,133
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CELA1,1990,12,51735143,51735143,Silent,SNP,G,A,c.(346-348)cgC>cgT,7,543,0,110
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SCN8A,6334,12,52164335,52164335,Silent,SNP,C,T,c.(3511-3513)tgC>tgT,5,160,0,31
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,AMHR2,269,12,53818183,53818183,Missense_Mutation,SNP,G,A,c.(160-162)cGc>cAc,7,823,1,195
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,HOXC13,3229,12,54332786,54332786,Silent,SNP,C,A,c.(94-96)ggC>ggA,5,357,0,70
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ARHGEF25,115557,12,58004106,58004106,5'Flank,SNP,T,G,,7,47,0,13
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RNFT2,84900,12,117287115,117287115,Intron,SNP,G,A,,6,322,0,79
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FBXW8,26259,12,117426659,117426659,Silent,SNP,G,A,c.(1222-1224)gtG>gtA,8,957,0,224
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,P2RX4,5025,12,121670250,121670250,Silent,SNP,C,T,c.(916-918)aaC>aaT,6,481,0,154
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TMEM132C,92293,12,128899900,128899900,Missense_Mutation,SNP,G,A,c.(709-711)Gag>Aag,4,121,0,49
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SETDB2,83852,13,50055205,50055205,Missense_Mutation,SNP,G,A,c.(1144-1146)cGc>cAc,5,206,0,86
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MBNL2,10150,13,97999309,97999309,Silent,SNP,G,A,c.(790-792)gcG>gcA,5,139,0,39
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,UBAC2,337867,13,99886641,99886641,Intron,SNP,G,A,,5,145,0,38
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RASA3,22821,13,114762141,114762141,Silent,SNP,G,A,c.(2005-2007)atC>atT,6,732,0,206
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TRAV1-2,28692,14,22111562,22111562,RNA,SNP,A,G,,4,154,0,64
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,AP1G2,8906,14,24030743,24030743,Missense_Mutation,SNP,G,A,c.(1834-1836)gCc>gTc,6,723,0,143
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,LTB4R2,56413,14,24780618,24780618,Missense_Mutation,SNP,G,A,c.(841-843)Gca>Aca,8,976,0,325
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,NKX2-1,7080,14,36986657,36986657,Silent,SNP,G,A,c.(940-942)ggC>ggT,5,301,1,126
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TTC6,319089,14,38194208,38194208,Splice_Site,SNP,G,A,c.e7+1,4,83,0,56
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PTGR2,145482,14,74341311,74341311,Intron,SNP,C,A,,6,341,1,93
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FOXN3,1112,14,89878825,89878825,De_novo_Start_InFrame,SNP,G,A,,4,68,0,21
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,KIF26A,26153,14,104640111,104640111,Missense_Mutation,SNP,G,A,c.(1936-1938)Ggg>Agg,5,484,0,153
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,AHNAK2,113146,14,105421456,105421456,Silent,SNP,G,A,c.(487-489)acC>acT,5,142,0,36
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,NPAP1,23742,15,24921144,24921144,Missense_Mutation,SNP,C,T,c.(130-132)Ccg>Tcg,4,205,0,59
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FBN1,2200,15,48808571,48808571,Intron,SNP,C,A,,6,490,0,160
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TLE3,7090,15,70347554,70347554,Missense_Mutation,SNP,G,A,c.(1420-1422)cCg>cTg,5,299,0,95
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PML,5371,15,74290706,74290706,Missense_Mutation,SNP,G,A,c.(490-492)cGg>cAg,7,880,0,209
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CLK3,1198,15,74914492,74914492,Missense_Mutation,SNP,G,A,c.(844-846)cGg>cAg,6,577,0,142
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RP11-24M17.5,0,15,76072718,76072718,RNA,SNP,G,A,,8,1118,0,343
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PEAK1,79834,15,77471290,77471290,Silent,SNP,G,A,c.(2977-2979)tgC>tgT,6,517,0,144
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MFGE8,4240,15,89450539,89450539,Missense_Mutation,SNP,G,A,c.(274-276)Cgt>Tgt,9,1364,1,293
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,POLG,5428,15,89864174,89864174,Missense_Mutation,SNP,G,A,c.(2803-2805)aCa>aTa,12,1228,0,293
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ST8SIA2,8128,15,93007443,93007443,Missense_Mutation,SNP,C,T,c.(955-957)cCg>cTg,144,795,0,280
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,AXIN1,8312,16,354323,354323,Missense_Mutation,SNP,C,T,c.(1234-1236)cGg>cAg,6,848,0,237
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MSLNL,401827,16,830486,830486,Intron,SNP,G,A,,9,1781,1,536
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,AMDHD2,51005,16,2570868,2570868,Missense_Mutation,SNP,G,A,c.(181-183)cGc>cAc,5,249,0,80
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FLYWCH1,84256,16,2980505,2980505,Silent,SNP,G,A,c.(418-420)ggG>ggA,5,250,0,80
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,METTL22,79091,16,8736380,8736380,Missense_Mutation,SNP,G,C,c.(967-969)aGa>aCa,119,607,0,180
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,METTL22,79091,16,8740422,8740422,IGR,SNP,G,A,,6,796,0,238
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,GTF3C1,2975,16,27473775,27473775,Missense_Mutation,SNP,G,A,c.(5956-5958)cCg>cTg,5,304,0,78
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FUS,2521,16,31204451,31204451,IGR,SNP,C,T,,6,180,0,59
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ORC6,23594,16,46731822,46731822,3'UTR,SNP,C,T,,5,189,0,57
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PAPD5,64282,16,50186867,50186867,Missense_Mutation,SNP,C,T,c.(4-6)Cgg>Tgg,6,444,1,122
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RPGRIP1L,23322,16,53679663,53679663,Missense_Mutation,SNP,C,T,c.(2557-2559)Gat>Aat,7,308,0,208
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RPGRIP1L,23322,16,53679694,53679694,Missense_Mutation,SNP,C,T,c.(2524-2526)atG>atA,6,382,0,206
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,IRX6,79190,16,55362828,55362828,Missense_Mutation,SNP,C,T,c.(937-939)gCg>gTg,136,541,0,174
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,AMFR,267,16,56396890,56396890,Silent,SNP,G,A,c.(1861-1863)ccC>ccT,6,688,0,178
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF821,55565,16,71894152,71894152,Silent,SNP,C,T,c.(1006-1008)ccG>ccA,7,819,0,241
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PSMD7,5713,16,74330875,74330875,Silent,SNP,T,C,c.(61-63)gaT>gaC,7,715,0,183
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ATMIN,23300,16,81069656,81069656,Missense_Mutation,SNP,C,T,c.(181-183)Ccc>Tcc,4,119,0,52
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MFAP4,4239,17,19288475,19288475,Missense_Mutation,SNP,C,T,c.(457-459)Gcg>Acg,84,321,0,121
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,LRRC37B,114659,17,30348481,30348481,Missense_Mutation,SNP,G,A,c.(316-318)Gag>Aag,5,266,0,73
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ACACA,31,17,35444286,35444286,Missense_Mutation,SNP,G,A,c.(7006-7008)Cgg>Tgg,6,836,0,243
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ARHGAP27,201176,17,43483436,43483436,Missense_Mutation,SNP,G,A,c.(670-672)cCg>cTg,4,146,0,67
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PLEKHM1,9842,17,43516929,43516929,Silent,SNP,G,A,c.(2971-2973)tgC>tgT,8,1519,0,404
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MAPT,4137,17,44073846,44073846,Missense_Mutation,SNP,C,T,c.(1588-1590)cCg>cTg,6,593,0,171
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,XYLT2,64132,17,48431316,48431316,Missense_Mutation,SNP,C,T,c.(460-462)aCg>aTg,7,659,0,247
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,BZRAP1,9256,17,56382760,56382760,Silent,SNP,G,A,c.(5419-5421)gaC>gaT,5,296,0,88
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RPS6KB1,6198,17,57970621,57970621,Missense_Mutation,SNP,G,A,c.(76-78)Gga>Aga,6,653,0,152
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,C17orf72,0,17,62078818,62078818,Intron,SNP,C,A,,4,73,0,26
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,USH1G,124590,17,72916592,72916592,Silent,SNP,G,A,c.(337-339)tgC>tgT,8,1653,0,513
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FOXJ1,2302,17,74133980,74133980,Silent,SNP,C,T,c.(718-720)ccG>ccA,4,131,0,45
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SEC14L1,6397,17,75190982,75190982,Missense_Mutation,SNP,G,A,c.(697-699)gGc>gAc,5,277,0,71
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,DNAH17,8632,17,76496537,76496537,Nonsense_Mutation,SNP,A,C,c.(5473-5475)taT>taG,24,112,0,58
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CANT1,124583,17,76989705,76989705,Missense_Mutation,SNP,G,A,c.(1132-1134)aCg>aTg,6,541,0,152
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RP11-1055B8.7,0,17,79411496,79411496,Missense_Mutation,SNP,G,A,c.(2413-2415)gGc>gAc,5,274,0,105
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PTPRM,5797,18,8069952,8069952,Silent,SNP,G,T,c.(1399-1401)cgG>cgT,25,113,0,82
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SIGLEC15,284266,18,43417661,43417661,Missense_Mutation,SNP,G,C,c.(295-297)cGg>cCg,118,470,0,261
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TCEB3B,51224,18,44561112,44561112,Missense_Mutation,SNP,G,A,c.(523-525)aCa>aTa,7,618,0,231
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SKOR2,652991,18,44774464,44774464,Missense_Mutation,SNP,G,A,c.(1090-1092)gCg>gTg,24,84,0,41
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RTTN,25914,18,67860567,67860567,Nonsense_Mutation,SNP,G,A,c.(964-966)Cga>Tga,6,621,0,116
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,POLRMT,5442,19,621372,621372,Missense_Mutation,SNP,G,A,c.(2326-2328)Cgg>Tgg,6,518,0,204
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PALM,5064,19,746514,746514,Silent,SNP,G,A,c.(862-864)ccG>ccA,5,267,0,120
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,NDUFS7,374291,19,1389527,1389527,Intron,SNP,C,A,,77,272,0,123
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CSNK1G2,1455,19,1979803,1979803,Missense_Mutation,SNP,G,A,c.(1054-1056)cGg>cAg,8,670,0,185
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,OAZ1,4946,19,2272972,2272972,Splice_Site,SNP,C,T,c.(550-552)gcC>gcT,5,329,0,110
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,LMNB2,84823,19,2433994,2433994,Missense_Mutation,SNP,G,A,c.(1252-1254)Cgg>Tgg,7,939,0,321
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,THOP1,7064,19,2810354,2810354,Missense_Mutation,SNP,C,T,c.(1507-1509)gCg>gTg,6,644,0,170
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,GNA15,2769,19,3162981,3162981,Silent,SNP,G,A,c.(1087-1089)gtG>gtA,6,511,0,135
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,TBXA2R,6915,19,3594985,3594985,3'UTR,SNP,C,G,,7,406,0,105
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,DPP9,91039,19,4694729,4694729,Missense_Mutation,SNP,G,A,c.(1372-1374)aCc>aTc,127,595,0,162
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MCOLN1,57192,19,7590047,7590047,Missense_Mutation,SNP,G,A,c.(232-234)Gtg>Atg,7,1142,0,283
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,STXBP2,6813,19,7705673,7705673,Silent,SNP,G,A,c.(301-303)gcG>gcA,8,988,0,272
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ADAMTS10,81794,19,8670202,8670202,Missense_Mutation,SNP,G,A,c.(130-132)Ccc>Tcc,5,461,0,140
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,LDLR,3949,19,11216286,11216286,Intron,SNP,G,A,,5,92,0,29
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,C19orf80,55908,19,11350907,11350907,Missense_Mutation,SNP,C,T,c.(394-396)Cgg>Tgg,6,395,0,104
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF627,199692,19,11728632,11728632,Silent,SNP,A,G,c.(1312-1314)gaA>gaG,4,114,0,75
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RFX1,5989,19,14076367,14076367,Intron,SNP,G,A,,6,260,0,80
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PRKACA,5566,19,14217673,14217673,Nonsense_Mutation,SNP,G,A,c.(136-138)Cga>Tga,6,589,0,165
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ANO8,57719,19,17440930,17440930,Intron,SNP,G,A,,5,337,0,112
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,KCNN1,3780,19,18092940,18092940,Intron,SNP,C,T,,4,59,0,29
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF737,100129842,19,20728325,20728325,Silent,SNP,C,G,c.(682-684)cgG>cgC,5,406,0,203
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF737,100129842,19,20728326,20728326,Missense_Mutation,SNP,C,G,c.(682-684)cGg>cCg,6,406,0,200
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF85,7639,19,21132185,21132185,Missense_Mutation,SNP,A,G,c.(865-867)Aaa>Gaa,5,229,0,132
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF85,7639,19,21132196,21132196,Silent,SNP,T,C,c.(874-876)ggT>ggC,6,218,0,126
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF431,170959,19,21366213,21366213,Silent,SNP,A,G,c.(1105-1107)gaA>gaG,5,168,1,79
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF208,7757,19,22154389,22154389,Silent,SNP,G,A,c.(3445-3447)gcC>gcT,5,286,0,198
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF257,113835,19,22255682,22255682,Silent,SNP,G,A,c.(73-75)caG>caA,5,357,0,190
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF728,388523,19,23159304,23159304,Missense_Mutation,SNP,C,T,c.(835-837)Gct>Act,6,434,0,236
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF724P,440519,19,23405389,23405389,Missense_Mutation,SNP,T,C,c.(1657-1659)aAg>aGg,6,470,0,226
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF91,7644,19,23544859,23544859,Missense_Mutation,SNP,T,C,c.(922-924)Acc>Gcc,6,541,0,266
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF681,148213,19,23926748,23926748,Missense_Mutation,SNP,G,T,c.(1603-1605)aCa>aAa,7,290,0,170
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,KCTD15,79047,19,34302350,34302350,Missense_Mutation,SNP,G,A,c.(586-588)Gag>Aag,10,818,0,235
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF850,342892,19,37239591,37239591,Missense_Mutation,SNP,A,G,c.(2350-2352)cTc>cCc,6,265,0,118
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF850,342892,19,37239593,37239593,Silent,SNP,C,T,c.(2347-2349)aaG>aaA,6,265,0,120
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RYR1,6261,19,38997157,38997157,Missense_Mutation,SNP,G,A,c.(8662-8664)cGg>cAg,7,1214,0,312
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MAP4K1,11184,19,39100635,39100635,Nonsense_Mutation,SNP,G,A,c.(841-843)Cga>Tga,37,350,0,105
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MEGF8,1954,19,42866720,42866720,Missense_Mutation,SNP,G,A,c.(6028-6030)tGc>tAc,8,792,0,246
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,NOVA2,4858,19,46443778,46443778,Silent,SNP,G,A,c.(820-822)acC>acT,6,911,0,283
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,NPAS1,4861,19,47548728,47548728,Missense_Mutation,SNP,C,T,c.(1591-1593)cCg>cTg,6,747,1,248
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,DHX34,9704,19,47883187,47883187,Missense_Mutation,SNP,G,A,c.(2926-2928)aGc>aAc,5,199,0,67
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SNRNP70,6625,19,49611315,49611315,Missense_Mutation,SNP,G,A,c.(928-930)cGt>cAt,6,451,0,134
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PRMT1,3276,19,50185224,50185224,Missense_Mutation,SNP,C,T,c.(196-198)Cgg>Tgg,5,415,0,88
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CTD-3187F8.14,0,19,51671002,51671002,RNA,SNP,G,A,,5,655,0,174
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ZNF808,388558,19,53056391,53056391,Silent,SNP,C,A,c.(220-222)gtC>gtA,4,45,0,31
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,EPS8L1,54869,19,55592833,55592833,Silent,SNP,G,A,c.(745-747)ctG>ctA,4,177,0,65
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PPP6R1,22870,19,55742061,55742061,Intron,SNP,G,A,,4,106,0,27
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,NLRP11,204801,19,56303741,56303741,Missense_Mutation,SNP,A,C,c.(2437-2439)aaT>aaG,6,444,0,127
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MZF1,7593,19,59073754,59073754,Silent,SNP,G,A,c.(1888-1890)tgC>tgT,7,913,1,294
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SLC52A3,113278,20,742400,742400,Missense_Mutation,SNP,G,A,c.(1141-1143)gCg>gTg,6,779,0,234
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,FLRT3,23767,20,14307356,14307356,Missense_Mutation,SNP,G,A,c.(796-798)gCt>gTt,36,287,0,99
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,C20orf26,0,20,20123592,20123592,Splice_Site,SNP,G,A,c.(949-951)caG>caA,4,215,0,54
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RBM39,9584,20,34297187,34297187,Missense_Mutation,SNP,A,G,c.(1183-1185)tTt>tCt,25,209,1,81
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PHF20,51230,20,34527019,34527019,Missense_Mutation,SNP,G,A,c.(2701-2703)Ggc>Agc,4,121,0,40
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SOGA1,140710,20,35422438,35422438,Silent,SNP,G,A,c.(3331-3333)acC>acT,5,403,0,149
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,LBP,3929,20,36993255,36993255,Missense_Mutation,SNP,G,A,c.(769-771)cGt>cAt,6,698,0,189
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RALGAPB,57148,20,37202871,37202871,Silent,SNP,A,G,c.(4219-4221)caA>caG,23,193,0,94
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PTPRT,11122,20,40770642,40770642,Splice_Site,SNP,C,T,c.(2683-2685)Gcc>Acc,62,385,0,131
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CDH4,1002,20,60498678,60498678,Missense_Mutation,SNP,G,A,c.(1543-1545)cGc>cAc,141,676,0,230
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SLCO4A1,28231,20,61274377,61274377,Intron,SNP,G,A,,9,570,1,166
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CHRNA4,1137,20,61981052,61981052,Missense_Mutation,SNP,C,T,c.(1711-1713)Gtc>Atc,6,545,0,183
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,OLIG1,116448,21,34442738,34442738,Silent,SNP,C,T,c.(184-186)gcC>gcT,5,368,0,149
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PIGP,51227,21,38441914,38441914,Silent,SNP,G,A,c.(163-165)ctC>ctT,5,205,0,84
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SH3BGR,6450,21,40823969,40823969,Missense_Mutation,SNP,G,A,c.(136-138)Ggc>Agc,66,437,0,158
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ICOSLG,23308,21,45649509,45649509,Intron,SNP,C,T,,10,759,0,231
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SPATC1L,84221,21,47581913,47581913,Missense_Mutation,SNP,G,A,c.(613-615)Cgc>Tgc,6,719,0,262
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,DGCR6,8214,22,18897540,18897540,Intron,SNP,G,A,,5,425,0,148
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,MORC2,22880,22,31333828,31333828,Missense_Mutation,SNP,G,A,c.(1342-1344)gCg>gTg,5,306,0,96
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,GGA1,26088,22,38017656,38017656,Missense_Mutation,SNP,G,A,c.(562-564)Gaa>Aaa,6,464,0,139
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,BAIAP2L2,80115,22,38494102,38494102,Missense_Mutation,SNP,G,A,c.(433-435)Cgc>Tgc,5,349,0,133
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,APOBEC3D,140564,22,39421463,39421463,Intron,SNP,G,A,,23,187,0,90
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,ADSL,158,22,40745978,40745978,Missense_Mutation,SNP,G,A,c.(295-297)tGt>tAt,6,455,0,164
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SREBF2,6721,22,42296430,42296430,Silent,SNP,C,T,c.(2833-2835)tgC>tgT,6,523,1,213
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SCUBE1,80274,22,43617283,43617283,Missense_Mutation,SNP,G,A,c.(1444-1446)aCc>aTc,5,336,0,98
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,RIBC2,26150,22,45809789,45809789,5'UTR,SNP,G,A,,5,293,0,76
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,SBF1,6305,22,50885628,50885628,Silent,SNP,G,A,c.(5545-5547)gaC>gaT,6,361,0,146
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,IL1RAPL1,11141,X,29973752,29973752,Missense_Mutation,SNP,G,A,c.(1906-1908)Ggc>Agc,4,105,0,28
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,KDM6A,7403,X,44918585,44918585,Missense_Mutation,SNP,G,A,c.(1066-1068)atG>atA,4,229,0,101
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,CCDC120,90060,X,48924918,48924918,Missense_Mutation,SNP,C,T,c.(1162-1164)cCc>cTc,33,56,0,42
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,HEPH,9843,X,65390510,65390510,Missense_Mutation,SNP,G,A,c.(97-99)cGg>cAg,5,397,0,94
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,P2RY4,5030,X,69478535,69478535,Nonsense_Mutation,SNP,G,A,c.(940-942)Cga>Tga,6,378,1,78
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,GLUD2,2747,X,120181766,120181766,Silent,SNP,C,T,c.(226-228)cgC>cgT,7,750,0,229
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,BCORL1,63035,X,129155119,129155119,Missense_Mutation,SNP,G,A,c.(3601-3603)Gag>Aag,6,351,0,72
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,NLGN4Y,22829,Y,16954697,16954697,3'UTR,SNP,G,A,,4,157,0,78
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,GPR128,84873,3,100362502,100362503,Intron,INS,-,A,,15,54,,
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PKHD1L1,93035,8,110492247,110492247,Frame_Shift_Del,DEL,T,-,c.(9205-9207)atgfs,25,112,,
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,PRRC2B,84726,9,134371102,134371103,Intron,INS,-,T,,38,199,,
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,NIN,51199,14,51288701,51288709,In_Frame_Del,DEL,GTGCCCGTC,-,c.(64-75)acgacgggcaca>aca,51,756,,
RP-1532_PCProject_0501_T1_v4_Exome_OnPrem,USP8,9101,15,50774026,50774026,Frame_Shift_Del,DEL,G,-,c.(1567-1569)gaafs,13,46,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GLTPD1,0,1,1262800,1262800,Missense_Mutation,SNP,C,T,c.(301-303)cCg>cTg,6,527,1,281
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,AURKAIP1,54998,1,1309513,1309513,Missense_Mutation,SNP,G,A,c.(364-366)gCg>gTg,7,242,0,123
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MIB2,142678,1,1564809,1564809,Missense_Mutation,SNP,C,T,c.(2599-2601)aCg>aTg,7,288,0,132
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,WRAP73,49856,1,3551831,3551831,Missense_Mutation,SNP,C,T,c.(631-633)Ggc>Agc,55,158,0,128
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,WRAP73,49856,1,3564057,3564057,Missense_Mutation,SNP,G,A,c.(136-138)aCg>aTg,7,298,0,119
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CEP104,9731,1,3745892,3745892,Missense_Mutation,SNP,C,T,c.(2089-2091)Gaa>Aaa,8,206,0,93
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PHF13,148479,1,6681535,6681535,Silent,SNP,C,T,c.(739-741)atC>atT,10,433,1,274
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CAMTA1,23261,1,7796600,7796600,Splice_Site,SNP,G,A,c.(3262-3264)cGt>cAt,5,85,0,61
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,UBE4B,10277,1,10221343,10221343,Splice_Site,SNP,G,A,c.(2809-2811)cGg>cAg,4,39,0,48
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KIF1B,23095,1,10352147,10352147,Silent,SNP,T,C,c.(1555-1557)gaT>gaC,83,257,0,222
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PTCHD2,57540,1,11594532,11594532,Missense_Mutation,SNP,G,A,c.(3469-3471)gGc>gAc,6,226,0,111
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MFN2,9927,1,12061480,12061480,Missense_Mutation,SNP,G,A,c.(838-840)cGt>cAt,8,586,0,337
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CTRC,11330,1,15771223,15771223,Missense_Mutation,SNP,G,A,c.(616-618)Gat>Aat,10,624,0,378
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,AGMAT,79814,1,15911308,15911308,Missense_Mutation,SNP,C,T,c.(154-156)cGg>cAg,4,40,0,57
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FBXO42,54455,1,16577461,16577461,Missense_Mutation,SNP,G,A,c.(1858-1860)Cgc>Tgc,5,162,0,163
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ATP13A2,23400,1,17318874,17318874,Silent,SNP,G,A,c.(1867-1869)agC>agT,7,273,0,153
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PADI4,23569,1,17660958,17660958,Intron,SNP,T,C,,5,143,0,73
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PADI4,23569,1,17660989,17660989,Intron,SNP,A,G,,8,66,0,57
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,UBR4,23352,1,19482154,19482154,Silent,SNP,G,A,c.(6079-6081)gaC>gaT,4,40,0,80
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,AKR7A3,22977,1,19609217,19609217,3'UTR,SNP,C,T,,7,437,0,296
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RAP1GAP,5909,1,21938261,21938261,Missense_Mutation,SNP,C,T,c.(661-663)Gtg>Atg,6,322,0,143
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EPHB2,2048,1,23233379,23233379,Missense_Mutation,SNP,G,A,c.(2065-2067)Gtg>Atg,5,146,0,112
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RHCE,6006,1,25718510,25718510,Silent,SNP,C,T,c.(607-609)acG>acA,7,303,0,325
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PHACTR4,65979,1,28793227,28793227,Silent,SNP,G,A,c.(769-771)caG>caA,6,108,0,95
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PUM1,9698,1,31478773,31478773,Missense_Mutation,SNP,C,T,c.(646-648)gGa>gAa,5,181,0,86
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PUM1,9698,1,31532282,31532282,Silent,SNP,C,T,c.(130-132)tcG>tcA,6,290,0,184
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,C1orf109,54955,1,38155496,38155496,Silent,SNP,G,A,c.(55-57)ccC>ccT,6,161,0,81
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MACF1,23499,1,39757710,39757710,Splice_Site,SNP,G,A,c.(1927-1929)gaG>gaA,5,111,0,69
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MPL,4352,1,43817974,43817974,Splice_Site,SNP,G,A,c.(1651-1653)ccG>ccA,7,596,0,318
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SZT2,23334,1,43907660,43907660,Intron,SNP,C,T,,4,61,0,37
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,B4GALT2,8704,1,44447094,44447094,Missense_Mutation,SNP,G,A,c.(262-264)Ggt>Agt,5,118,0,79
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KIF2C,11004,1,45232762,45232762,Intron,SNP,C,T,,5,120,0,96
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NASP,4678,1,46072970,46072970,Intron,SNP,C,T,,4,51,0,48
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FAF1,11124,1,51253805,51253805,Silent,SNP,G,A,c.(232-234)tcC>tcT,7,375,0,287
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EPS15,2060,1,51924181,51924181,Intron,SNP,A,G,,6,239,0,105
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TTC4,7268,1,55182263,55182263,Intron,SNP,C,T,,5,70,0,50
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LEPR,3953,1,66067165,66067165,Missense_Mutation,SNP,C,T,c.(1084-1086)cCc>cTc,5,175,0,161
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CLCA4,22802,1,87045273,87045273,Intron,SNP,A,G,,11,49,0,101
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TGFBR3,7049,1,92266601,92266601,Intron,SNP,T,C,,5,61,0,10
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GFI1,2672,1,92946205,92946205,Missense_Mutation,SNP,G,A,c.(739-741)Cgc>Tgc,9,679,0,310
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ABCA4,24,1,94508352,94508352,Missense_Mutation,SNP,C,T,c.(3292-3294)cGc>cAc,7,454,0,347
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CTTNBP2NL,55917,1,112998634,112998634,Missense_Mutation,SNP,C,T,c.(520-522)Cgc>Tgc,5,246,0,136
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PTPN22,26191,1,114406895,114406895,Intron,SNP,T,C,,5,211,0,94
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ADAMTSL4,54507,1,150530968,150530968,Missense_Mutation,SNP,G,A,c.(2401-2403)cGg>cAg,8,494,0,224
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ADAMTSL4,54507,1,150531139,150531139,Intron,SNP,C,T,,7,462,0,257
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF687,57592,1,151260762,151260762,Silent,SNP,G,A,c.(1993-1995)ccG>ccA,7,425,0,208
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CGN,57530,1,151493102,151493102,Missense_Mutation,SNP,G,A,c.(1075-1077)Gca>Aca,6,303,1,187
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ASH1L,55870,1,155327401,155327401,Missense_Mutation,SNP,T,A,c.(6949-6951)aAg>aTg,37,124,0,81
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ARHGEF2,9181,1,155935127,155935127,Nonsense_Mutation,SNP,G,A,c.(547-549)Cga>Tga,6,263,0,146
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MRPL24,79590,1,156708133,156708133,Splice_Site,SNP,A,C,c.e3+1,47,132,0,134
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,AIM2,9447,1,159033272,159033272,Intron,SNP,C,T,,4,25,0,49
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CADM3,57863,1,159166151,159166151,Intron,SNP,C,T,,7,194,0,146
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DARC,0,1,159175761,159175761,Missense_Mutation,SNP,G,A,c.(532-534)Gcc>Acc,6,106,0,128
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CASQ1,844,1,160163592,160163592,Silent,SNP,C,T,c.(418-420)taC>taT,7,170,0,64
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,C1orf110,339512,1,162825421,162825421,Splice_Site,SNP,C,T,c.e3+1,6,178,0,126
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DUSP27,92235,1,167064091,167064091,Missense_Mutation,SNP,C,T,c.(4-6)gCg>gTg,7,226,0,97
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TBX19,9095,1,168269676,168269676,Missense_Mutation,SNP,G,A,c.(682-684)Gta>Ata,7,442,1,243
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SCYL3,57147,1,169828245,169828245,Nonsense_Mutation,SNP,G,A,c.(1249-1251)Cga>Tga,7,288,0,184
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TOR1AIP2,163590,1,179820010,179820010,Missense_Mutation,SNP,C,T,c.(523-525)Gat>Aat,5,51,0,63
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CEP350,9857,1,180021403,180021403,Intron,SNP,G,A,,7,180,0,69
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RNASEL,6041,1,182555454,182555454,Missense_Mutation,SNP,C,T,c.(487-489)cGg>cAg,7,516,0,336
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PRG4,10216,1,186277624,186277624,Missense_Mutation,SNP,C,T,c.(2773-2775)Cgt>Tgt,8,607,0,377
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CACNA1S,779,1,201013535,201013535,Missense_Mutation,SNP,G,A,c.(4717-4719)aCg>aTg,7,367,0,189
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NAV1,89796,1,201763373,201763373,Intron,SNP,A,G,,6,174,0,94
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LGR6,59352,1,202197061,202197061,Intron,SNP,C,T,,5,187,0,102
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MYBPH,4608,1,203139486,203139486,Silent,SNP,T,C,c.(1024-1026)tcA>tcG,7,334,0,164
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RBBP5,5929,1,205083917,205083917,Splice_Site,SNP,C,T,c.(217-219)tGc>tAc,4,55,0,99
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TLR5,7100,1,223285784,223285784,Missense_Mutation,SNP,G,A,c.(589-591)aCg>aTg,7,363,0,345
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PARP1,142,1,226555951,226555951,Silent,SNP,G,A,c.(2224-2226)caC>caT,8,620,0,387
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MAP1LC3C,440738,1,242161829,242161829,Missense_Mutation,SNP,G,A,c.(208-210)Ctc>Ttc,6,268,0,132
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TPO,7173,2,1459995,1459995,Missense_Mutation,SNP,G,A,c.(760-762)Ggg>Agg,7,176,0,180
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,COLEC11,78989,2,3691072,3691072,Missense_Mutation,SNP,G,A,c.(367-369)Ggg>Agg,10,719,0,343
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EMILIN1,11117,2,27306330,27306330,Missense_Mutation,SNP,G,A,c.(1891-1893)Gtg>Atg,8,147,0,97
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PLB1,151056,2,28764616,28764616,Nonsense_Mutation,SNP,C,T,c.(817-819)Cag>Tag,6,312,1,198
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LCLAT1,253558,2,30828950,30828950,Intron,SNP,C,A,,6,172,0,106
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CDKL4,344387,2,39452979,39452979,Splice_Site,SNP,C,T,c.e2+1,5,79,0,59
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TTC7A,57217,2,47168770,47168770,Silent,SNP,G,A,c.(88-90)ccG>ccA,8,614,0,229
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PUS10,150962,2,61239020,61239020,Silent,SNP,G,A,c.(4-6)ttC>ttT,6,155,1,95
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CCT4,10575,2,62115516,62115516,Splice_Site,SNP,C,T,c.(127-129)Gcg>Acg,6,226,0,89
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GFPT1,2673,2,69573036,69573036,Splice_Site,SNP,C,T,c.(1105-1107)Gtg>Atg,7,130,0,112
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MXD1,4084,2,70164415,70164415,Nonsense_Mutation,SNP,C,T,c.(367-369)Cag>Tag,6,291,0,122
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DYSF,8291,2,71797023,71797023,Missense_Mutation,SNP,G,A,c.(2884-2886)Gga>Aga,6,428,0,332
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MRPL53,116540,2,74699384,74699384,Intron,SNP,G,A,,5,188,1,136
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LOXL3,84695,2,74763831,74763831,Intron,SNP,C,T,,7,145,0,107
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CNNM4,26504,2,97464903,97464903,Silent,SNP,C,T,c.(1789-1791)taC>taT,7,526,0,300
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,IL36RN,26525,2,113819694,113819694,Intron,SNP,C,T,,8,450,0,275
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DDX18,8886,2,118579728,118579728,Silent,SNP,C,T,c.(955-957)acC>acT,6,104,0,88
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MYO7B,4648,2,128380951,128380951,Splice_Site,SNP,G,A,c.e27+1,4,18,0,29
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,Unknown,0,2,132201657,132201657,IGR,SNP,C,T,,9,645,0,405
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GPR39,2863,2,133175161,133175161,Silent,SNP,C,T,c.(544-546)aaC>aaT,7,339,0,187
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RAB3GAP1,22930,2,135926186,135926186,Silent,SNP,C,T,c.(2779-2781)tcC>tcT,8,629,0,361
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GALNT3,2591,2,166615921,166615921,Nonsense_Mutation,SNP,C,T,c.(997-999)tGg>tAg,6,316,0,243
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TLK1,9874,2,171916485,171916485,Intron,SNP,G,A,,9,259,0,150
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TTN,7273,2,179571371,179571371,Missense_Mutation,SNP,G,A,c.(28279-28281)Cgt>Tgt,8,169,0,117
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NRP2,8828,2,206659774,206659774,Missense_Mutation,SNP,G,A,c.(2773-2775)Gag>Aag,6,400,0,208
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SLC11A1,6556,2,219250176,219250176,Intron,SNP,C,T,,6,258,0,171
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SLC23A3,151295,2,220029886,220029886,Intron,SNP,C,T,,7,213,0,159
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ATG9A,79065,2,220089396,220089396,Missense_Mutation,SNP,G,A,c.(697-699)Cgc>Tgc,8,370,0,231
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SCG2,7857,2,224462293,224462293,Missense_Mutation,SNP,G,A,c.(1708-1710)Cct>Tct,4,91,0,75
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,IRS1,3667,2,227663418,227663418,Missense_Mutation,SNP,C,T,c.(37-39)Gtg>Atg,6,252,0,129
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RHBDD1,84236,2,227807246,227807246,Intron,SNP,T,C,,4,60,0,17
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,COL4A4,1286,2,227915822,227915822,Silent,SNP,G,A,c.(3019-3021)taC>taT,7,290,1,242
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,B3GNT7,93010,2,232262645,232262645,Missense_Mutation,SNP,C,T,c.(214-216)aCg>aTg,5,169,0,111
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,USP40,55230,2,234434208,234434208,Splice_Site,SNP,G,A,c.(1723-1725)Ctg>Ttg,5,110,0,64
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CAPN10,11132,2,241530274,241530274,Missense_Mutation,SNP,C,T,c.(316-318)Cgg>Tgg,9,265,0,105
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,AQP12A,375318,2,241631576,241631576,Missense_Mutation,SNP,C,T,c.(208-210)gCg>gTg,10,498,0,375
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,THAP4,51078,2,242542473,242542473,Silent,SNP,G,A,c.(1420-1422)gaC>gaT,7,377,0,160
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EMC3,55831,3,10023394,10023394,Intron,SNP,T,C,,5,180,0,86
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MRPS25,64432,3,15091392,15091392,3'UTR,SNP,A,G,,7,279,0,138
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF445,353274,3,44492021,44492021,Silent,SNP,G,A,c.(736-738)gaC>gaT,30,170,0,133
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TGM4,7047,3,44955083,44955083,Nonsense_Mutation,SNP,C,T,c.(1921-1923)Cag>Tag,6,78,0,51
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PRSS50,29122,3,46758922,46758922,Intron,SNP,C,T,,6,156,0,119
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,COL7A1,1294,3,48616822,48616822,Nonsense_Mutation,SNP,G,A,c.(5287-5289)Cga>Tga,8,533,0,472
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CELSR3,1951,3,48699374,48699374,Missense_Mutation,SNP,G,A,c.(694-696)Cgg>Tgg,5,198,0,149
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SEMA3F,6405,3,50220875,50220875,Missense_Mutation,SNP,G,A,c.(1111-1113)Gtg>Atg,5,183,0,94
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NPRL2,10641,3,50386911,50386911,Silent,SNP,G,A,c.(352-354)ttC>ttT,6,267,1,114
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CACNA2D3,55799,3,54604014,54604014,Silent,SNP,G,A,c.(769-771)gtG>gtA,13,91,0,86
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PDE12,201626,3,57542526,57542526,Silent,SNP,T,C,c.(418-420)gaT>gaC,41,96,0,86
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FLNB,2317,3,58112439,58112439,Missense_Mutation,SNP,C,T,c.(4171-4173)gCa>gTa,6,288,0,203
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PTPRG,5793,3,62216930,62216930,Missense_Mutation,SNP,C,T,c.(2320-2322)Ccc>Tcc,5,86,0,31
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PTPRG,5793,3,62263282,62263282,Silent,SNP,G,A,c.(3691-3693)acG>acA,6,310,1,131
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PSMD6,9861,3,64008162,64008162,Silent,SNP,G,A,c.(181-183)ctC>ctT,7,295,1,209
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PPP4R2,151987,3,73064991,73064991,Intron,SNP,A,G,,5,93,0,39
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GAP43,2596,3,115394937,115394937,Silent,SNP,C,T,c.(106-108)acC>acT,5,198,0,135
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,C3orf30,152405,3,118866253,118866253,Missense_Mutation,SNP,C,T,c.(1216-1218)cCt>cTt,5,125,0,140
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,HSPBAP1,79663,3,122477707,122477707,Intron,SNP,A,G,,5,134,0,57
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZXDC,79364,3,126180586,126180586,Missense_Mutation,SNP,G,A,c.(1918-1920)cCg>cTg,7,373,0,217
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,COL6A5,256076,3,130150712,130150712,Silent,SNP,G,A,c.(5650-5652)acG>acA,5,192,0,183
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CDV3,55573,3,133305452,133305452,Missense_Mutation,SNP,C,T,c.(511-513)cCt>cTt,6,170,0,108
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RASA2,5922,3,141304859,141304859,Intron,SNP,C,T,,4,103,0,74
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PCOLCE2,26577,3,142557611,142557611,Splice_Site,SNP,C,T,c.e5+1,6,91,0,73
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,B3GALNT1,8706,3,160807749,160807749,5'UTR,SNP,T,C,,5,101,0,24
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CHRD,8646,3,184099152,184099152,Splice_Site,SNP,G,A,c.(382-384)Gag>Aag,6,282,0,135
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MASP1,5648,3,187009703,187009703,5'UTR,SNP,G,A,,8,458,0,217
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ATP13A3,79572,3,194146215,194146215,Missense_Mutation,SNP,C,T,c.(3169-3171)Gta>Ata,5,83,0,100
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DLG1,1739,3,196888536,196888536,Missense_Mutation,SNP,G,A,c.(556-558)aCt>aTt,5,185,0,88
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KIAA0226,9711,3,197423814,197423814,Intron,SNP,C,T,,6,278,0,189
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF595,152687,4,86588,86588,3'UTR,SNP,T,C,,5,171,1,134
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF721,170960,4,437167,437167,Silent,SNP,G,A,c.(1051-1053)tgC>tgT,7,143,0,138
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FGFR3,2261,4,1808552,1808552,Intron,SNP,G,A,,6,254,0,202
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,HS3ST1,9957,4,11400725,11400725,Missense_Mutation,SNP,C,T,c.(904-906)aGa>aAa,5,64,0,75
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FAM184B,27146,4,17638201,17638201,Missense_Mutation,SNP,G,A,c.(2734-2736)Cgc>Tgc,6,294,0,134
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FAM184B,27146,4,17710600,17710600,Missense_Mutation,SNP,C,T,c.(808-810)cGg>cAg,5,226,0,136
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RELL1,768211,4,37624495,37624495,Intron,SNP,C,T,,6,244,0,124
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ATP8A1,10396,4,42576626,42576626,Intron,SNP,A,C,,6,274,0,141
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DCUN1D4,23142,4,52753298,52753298,Intron,SNP,C,T,,7,248,0,83
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KIAA1211,57482,4,57181525,57181525,Silent,SNP,G,A,c.(1855-1857)aaG>aaA,9,495,0,216
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,POLR2B,5431,4,57889555,57889555,Missense_Mutation,SNP,C,T,c.(2575-2577)Cgt>Tgt,7,206,0,173
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DCK,1633,4,71894348,71894348,Intron,SNP,C,T,,6,132,0,53
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LIN54,132660,4,83860828,83860828,Missense_Mutation,SNP,C,T,c.(1303-1305)cGg>cAg,7,507,0,294
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ARHGAP24,83478,4,86916254,86916254,Missense_Mutation,SNP,C,T,c.(1447-1449)Cgc>Tgc,5,142,0,158
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DAPP1,27071,4,100756802,100756802,Missense_Mutation,SNP,C,T,c.(124-126)Cgc>Tgc,37,132,0,129
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MANBA,4126,4,103675123,103675123,Intron,SNP,T,G,,6,312,0,91
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MANBA,4126,4,103675131,103675131,Intron,SNP,A,G,,7,278,1,84
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MANBA,4126,4,103675146,103675146,Intron,SNP,T,C,,10,213,0,80
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,OSTC,58505,4,109584390,109584390,Intron,SNP,C,T,,5,152,0,51
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CAMK2D,817,4,114682159,114682159,Splice_Site,SNP,C,T,c.e1+1,6,269,0,159
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NDST4,64579,4,115763827,115763827,Intron,SNP,C,G,,4,63,0,14
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NAA15,80155,4,140325582,140325582,Missense_Mutation,SNP,A,G,c.(151-153)Atc>Gtc,5,312,0,110
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CLCN3,1182,4,170634258,170634258,Silent,SNP,C,T,c.(2176-2178)atC>atT,8,254,0,178
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SORBS2,8470,4,186544436,186544436,Missense_Mutation,SNP,G,A,c.(2134-2136)tCg>tTg,6,196,0,157
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PLEKHG4B,153478,5,182249,182249,Silent,SNP,G,A,c.(3625-3627)tcG>tcA,11,839,0,338
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LRRC14B,389257,5,192262,192262,Silent,SNP,C,T,c.(607-609)caC>caT,8,408,0,187
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,IRX2,153572,5,2748921,2748921,Missense_Mutation,SNP,C,T,c.(901-903)Gag>Aag,9,153,0,141
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DAB2,1601,5,39394431,39394431,5'UTR,SNP,G,A,,5,237,0,130
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CARD6,84674,5,40860169,40860169,Missense_Mutation,SNP,G,A,c.(910-912)cGt>cAt,9,173,0,112
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PARP8,79668,5,50037737,50037737,Intron,SNP,A,G,,5,207,0,56
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PPAP2A,8611,5,54737710,54737710,Missense_Mutation,SNP,G,A,c.(517-519)tCg>tTg,6,229,0,141
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CTD-2117L12.1,0,5,57842960,57842960,Splice_Site,SNP,A,G,c.e2+1,5,160,0,63
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,BDP1,55814,5,70806352,70806352,Silent,SNP,C,T,c.(3433-3435)Ctg>Ttg,5,133,0,112
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CRHBP,1393,5,76264611,76264611,Silent,SNP,C,T,c.(868-870)caC>caT,6,149,0,109
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MTX3,345778,5,79286845,79286845,Intron,SNP,G,A,,6,293,0,162
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RASGRF2,5924,5,80503167,80503167,Splice_Site,SNP,G,A,c.(3070-3072)Gag>Aag,5,100,0,116
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TMEM167A,153339,5,82357709,82357709,Silent,SNP,C,T,c.(133-135)aaG>aaA,20,140,0,118
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SNCAIP,9627,5,121776414,121776414,Missense_Mutation,SNP,G,A,c.(1387-1389)Gta>Ata,6,241,0,198
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ACSL6,23305,5,131310461,131310461,Intron,SNP,C,T,,6,201,0,156
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZCCHC10,54819,5,132354813,132354813,Intron,SNP,C,T,,6,219,0,142
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PCDHA2,56146,5,140176239,140176239,Missense_Mutation,SNP,G,A,c.(1690-1692)Gca>Aca,7,527,0,372
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PCDHA6,56142,5,140209390,140209390,Missense_Mutation,SNP,G,A,c.(1714-1716)Ggt>Agt,11,784,0,450
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PCDHA9,9752,5,140229646,140229646,Silent,SNP,G,A,c.(1564-1566)ccG>ccA,13,1041,1,655
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PCDHB18,54660,5,140616136,140616136,RNA,SNP,C,T,,8,486,1,379
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PCDH12,51294,5,141337286,141337286,Missense_Mutation,SNP,G,A,c.(130-132)aCa>aTa,7,250,0,171
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SH3TC2,79628,5,148383378,148383378,IGR,SNP,A,C,,9,369,0,114
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FAT2,2196,5,150886738,150886738,Missense_Mutation,SNP,C,T,c.(12493-12495)aGa>aAa,4,19,0,48
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NIPAL4,348938,5,156899651,156899651,Missense_Mutation,SNP,G,A,c.(1084-1086)Gtg>Atg,10,580,1,360
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TTC1,7265,5,159491936,159491936,Intron,SNP,C,T,,5,93,0,52
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,HK3,3101,5,176315479,176315479,Silent,SNP,G,A,c.(1156-1158)caC>caT,10,796,0,338
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RUFY1,80230,5,179036386,179036386,Missense_Mutation,SNP,C,T,c.(1993-1995)Cgg>Tgg,6,196,0,96
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZFP62,643836,5,180276820,180276820,Nonsense_Mutation,SNP,G,A,c.(1675-1677)Cga>Tga,6,138,0,107
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GNB2L1,10399,5,180669596,180669596,Intron,SNP,C,T,,5,42,0,9
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,BTN2A3P,54718,6,26431653,26431653,RNA,SNP,C,T,,8,417,1,295
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PRR3,80742,6,30529674,30529674,Missense_Mutation,SNP,C,T,c.(232-234)cCt>cTt,7,173,0,128
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DDR1,780,6,30859173,30859173,Silent,SNP,C,T,c.(580-582)taC>taT,6,156,0,93
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DPCR1,135656,6,30919299,30919299,Missense_Mutation,SNP,C,T,c.(3058-3060)Cct>Tct,6,259,0,238
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,VARS,7407,6,31748831,31748831,Missense_Mutation,SNP,C,T,c.(2614-2616)Gat>Aat,7,197,0,171
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CYP21A1P,1590,6,31978779,31978779,RNA,SNP,C,T,,8,640,0,363
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,BRPF3,27154,6,36172417,36172417,Intron,SNP,C,T,,5,213,0,159
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,BRPF3,27154,6,36179261,36179261,Silent,SNP,G,A,c.(2404-2406)ctG>ctA,7,394,0,268
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZFAND3,60685,6,37971462,37971462,Intron,SNP,T,A,,8,17,0,19
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GLTSCR1L,23506,6,42820126,42820126,Intron,SNP,A,G,,5,161,0,96
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CUL9,23113,6,43188937,43188937,Silent,SNP,C,T,c.(6628-6630)gtC>gtT,6,314,0,140
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DOPEY1,23033,6,83880053,83880053,IGR,SNP,C,T,,6,158,0,110
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MDN1,23195,6,90428730,90428730,Missense_Mutation,SNP,G,A,c.(6076-6078)tCc>tTc,5,111,0,149
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,QRSL1,55278,6,107100538,107100538,Silent,SNP,G,A,c.(928-930)ggG>ggA,6,66,0,51
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SMPD2,6610,6,109764814,109764814,Silent,SNP,C,T,c.(976-978)ttC>ttT,6,218,0,109
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MICAL1,64780,6,109767903,109767903,Missense_Mutation,SNP,C,T,c.(2299-2301)aGt>aAt,7,302,0,172
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SERINC1,57515,6,122766311,122766311,Missense_Mutation,SNP,G,A,c.(1240-1242)Cgt>Tgt,6,119,0,83
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MED23,9439,6,131912515,131912515,Silent,SNP,C,T,c.(3622-3624)acG>acA,7,305,0,215
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MAP7,9053,6,136710587,136710587,Missense_Mutation,SNP,C,T,c.(313-315)Gag>Aag,6,159,0,70
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PEX7,5191,6,137191957,137191957,Intron,SNP,A,C,,5,97,0,57
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LTV1,84946,6,144179072,144179072,Silent,SNP,G,A,c.(721-723)acG>acA,6,258,0,207
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RP11-307P5.1,0,6,148050958,148050958,lincRNA,SNP,T,C,,6,275,0,146
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SYNE1,23345,6,152461284,152461284,Missense_Mutation,SNP,C,T,c.(25258-25260)cGa>cAa,72,275,0,303
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SYNE1,23345,6,152652385,152652385,Missense_Mutation,SNP,G,A,c.(13435-13437)Cgt>Tgt,6,285,0,211
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZDHHC14,79683,6,158093920,158093920,Silent,SNP,G,A,c.(1231-1233)ccG>ccA,9,747,1,306
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,AGPAT4,56895,6,161574423,161574423,Nonsense_Mutation,SNP,G,A,c.(619-621)Cga>Tga,100,327,0,147
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,INTS1,26173,7,1523725,1523725,Missense_Mutation,SNP,C,T,c.(3343-3345)Gcc>Acc,7,423,0,139
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CHST12,55501,7,2472910,2472910,Silent,SNP,G,A,c.(634-636)gcG>gcA,7,299,0,128
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SDK1,221935,7,4185390,4185390,Missense_Mutation,SNP,C,T,c.(4264-4266)cCc>cTc,6,224,0,105
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,USP42,84132,7,6194150,6194150,Missense_Mutation,SNP,G,A,c.(2965-2967)Gac>Aac,6,193,0,150
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LRRC72,100506049,7,16566667,16566667,Splice_Site,SNP,G,A,c.(88-90)cgG>cgA,7,392,0,139
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SP4,6671,7,21470071,21470071,Missense_Mutation,SNP,G,A,c.(1288-1290)Ggg>Agg,6,216,0,185
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,JAZF1-AS1,100128081,7,28280450,28280450,RNA,SNP,T,C,,5,16,0,40
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GHRHR,2692,7,31008754,31008754,Silent,SNP,G,A,c.(235-237)ccG>ccA,9,871,0,352
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GLI3,2737,7,42011983,42011983,Missense_Mutation,SNP,G,A,c.(2056-2058)Cgg>Tgg,6,253,0,150
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MRPS24,64951,7,43906525,43906525,Missense_Mutation,SNP,G,A,c.(277-279)Cgc>Tgc,6,224,0,189
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GRB10,2887,7,50673106,50673106,Intron,SNP,G,A,,8,637,0,288
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF727,442319,7,63538824,63538824,Missense_Mutation,SNP,G,A,c.(1396-1398)aGc>aAc,8,164,1,109
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SRCRB4D,0,7,76029752,76029752,Missense_Mutation,SNP,C,T,c.(325-327)cGg>cAg,6,221,0,88
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SAMD9L,219285,7,92762959,92762959,Missense_Mutation,SNP,C,T,c.(2326-2328)Gaa>Aaa,5,94,0,87
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LMTK2,22853,7,97736535,97736535,Missense_Mutation,SNP,C,G,c.(46-48)Ctg>Gtg,5,263,1,100
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TRRAP,8295,7,98609764,98609764,Missense_Mutation,SNP,C,T,c.(11365-11367)aCg>aTg,9,529,0,245
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NYAP1,222950,7,100086244,100086244,Silent,SNP,C,T,c.(898-900)caC>caT,5,90,0,59
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LRCH4,4034,7,100174912,100174912,Missense_Mutation,SNP,C,T,c.(1279-1281)Gcc>Acc,7,248,0,125
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LRCH4,4034,7,100175853,100175853,Missense_Mutation,SNP,G,A,c.(877-879)Cgg>Tgg,8,419,1,206
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZAN,7455,7,100371066,100371066,RNA,SNP,G,A,,8,215,0,169
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TRIP6,7205,7,100468725,100468725,Intron,SNP,T,A,,6,258,0,95
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MYL10,93408,7,101272318,101272318,Intron,SNP,T,C,,6,131,0,44
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CUX1,1523,7,101556710,101556710,Intron,SNP,G,A,,5,96,0,49
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,COG5,10466,7,107167727,107167727,Missense_Mutation,SNP,C,T,c.(586-588)Gga>Aga,8,380,0,240
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LAMB1,3912,7,107593990,107593990,Missense_Mutation,SNP,G,T,c.(3064-3066)Cag>Aag,5,130,1,231
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CFTR,1080,7,117175465,117175465,Splice_Site,SNP,G,A,c.(742-744)aGa>aAa,5,278,1,250
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,IRF5,3663,7,128583118,128583118,Intron,SNP,C,T,,5,27,0,14
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CEP41,95681,7,130035811,130035811,3'UTR,SNP,C,T,,8,492,0,211
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,WDR91,29062,7,134891862,134891862,Intron,SNP,C,T,,6,92,0,108
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EPHB6,2051,7,142563827,142563827,Silent,SNP,C,T,c.(1213-1215)gtC>gtT,11,603,1,303
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SSPO,23145,7,149508081,149508081,RNA,SNP,C,T,,7,428,0,164
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NOS3,4846,7,150698991,150698991,Missense_Mutation,SNP,G,A,c.(1585-1587)Ggc>Agc,7,484,0,168
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SLC4A2,6522,7,150771289,150771289,Missense_Mutation,SNP,C,T,c.(2698-2700)aCg>aTg,7,573,0,244
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CHPF2,54480,7,150935201,150935201,Missense_Mutation,SNP,C,T,c.(1753-1755)Cct>Tct,6,252,0,148
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MNX1,3110,7,156798572,156798572,Intron,SNP,G,A,,6,280,0,215
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PTPRN2,5799,7,157370803,157370803,Silent,SNP,G,A,c.(2524-2526)atC>atT,5,189,1,71
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TNKS,8658,8,9567523,9567523,Missense_Mutation,SNP,G,C,c.(1636-1638)aGa>aCa,4,159,0,117
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,INTS10,55174,8,19687925,19687925,Silent,SNP,C,T,c.(1147-1149)gaC>gaT,5,41,0,42
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ANK1,286,8,41583417,41583417,Silent,SNP,G,A,c.(472-474)aaC>aaT,6,408,0,275
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,IKBKB,3551,8,42183497,42183497,Missense_Mutation,SNP,C,T,c.(1996-1998)Cgt>Tgt,8,152,0,147
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PRKDC,5591,8,48696320,48696320,Missense_Mutation,SNP,C,T,c.(11155-11157)Gcc>Acc,6,229,0,105
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PXDNL,137902,8,52252304,52252304,Silent,SNP,A,G,c.(4024-4026)gaT>gaC,54,72,0,83
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,XKR9,389668,8,71595750,71595750,Intron,SNP,C,T,,10,452,0,110
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TRPA1,8989,8,72983946,72983946,Splice_Site,SNP,C,T,c.(268-270)Gtg>Atg,7,213,0,137
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TERF1,7013,8,73921346,73921346,Silent,SNP,C,T,c.(223-225)gcC>gcT,35,139,0,97
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZFAND1,79752,8,82615296,82615296,Missense_Mutation,SNP,A,C,c.(544-546)Ttc>Gtc,13,51,0,28
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NBN,4683,8,90983433,90983433,Missense_Mutation,SNP,C,T,c.(670-672)Ggg>Agg,6,209,0,121
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,C8orf87,389676,8,94178959,94178959,Splice_Site,SNP,C,T,c.e1+1,6,248,0,107
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RGS22,26166,8,101020751,101020751,Missense_Mutation,SNP,C,A,c.(2212-2214)gGa>gTa,5,111,0,67
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ODF1,4956,8,103572834,103572834,Missense_Mutation,SNP,G,A,c.(475-477)Gac>Aac,7,594,0,322
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DPYS,1807,8,105405061,105405061,Missense_Mutation,SNP,C,T,c.(1393-1395)cGa>cAa,10,600,0,347
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,COL22A1,169044,8,139697440,139697440,Intron,SNP,C,T,,6,190,0,137
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SLC45A4,57210,8,142226006,142226006,Missense_Mutation,SNP,G,A,c.(1639-1641)aCg>aTg,9,633,0,259
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PTP4A3,11156,8,142441166,142441166,3'UTR,SNP,G,A,,6,146,0,124
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RHPN1,114822,8,144462128,144462128,Missense_Mutation,SNP,G,A,c.(1075-1077)Gta>Ata,7,320,0,130
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EPPK1,83481,8,144940342,144940342,Silent,SNP,G,A,c.(7078-7080)gaC>gaT,25,2294,0,1108
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PLEC,5339,8,144990781,144990781,Missense_Mutation,SNP,G,A,c.(13618-13620)cCg>cTg,8,651,1,268
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PLEC,5339,8,144993989,144993989,Missense_Mutation,SNP,C,T,c.(10411-10413)Ggc>Agc,9,543,0,250
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PLEC,5339,8,144994116,144994116,Silent,SNP,G,A,c.(10282-10284)atC>atT,13,1188,1,462
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ARHGAP39,80728,8,145830920,145830920,Splice_Site,SNP,C,T,c.(79-81)cGg>cAg,7,266,1,119
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ACO1,48,9,32445694,32445694,Intron,SNP,C,T,,6,58,0,32
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ENHO,375704,9,34521646,34521646,Silent,SNP,G,A,c.(46-48)aaC>aaT,9,587,0,178
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KIAA1045,23349,9,34976632,34976632,Silent,SNP,G,A,c.(742-744)gcG>gcA,75,416,0,161
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,VCP,7415,9,35059699,35059699,Nonsense_Mutation,SNP,G,A,c.(1795-1797)Cga>Tga,6,303,0,185
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,C9orf41,138199,9,77643027,77643027,Missense_Mutation,SNP,G,A,c.(130-132)tCg>tTg,10,886,0,292
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DAPK1,1612,9,90264980,90264980,Missense_Mutation,SNP,G,A,c.(1573-1575)Gac>Aac,12,643,0,333
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NUTM2F,54754,9,97087992,97087992,Missense_Mutation,SNP,C,T,c.(241-243)Gtc>Atc,7,151,0,202
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FANCC,2176,9,97885751,97885751,Intron,SNP,A,G,,6,204,0,84
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EPB41L4B,54566,9,112020462,112020462,Silent,SNP,C,T,c.(745-747)gaG>gaA,5,86,0,67
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SLC31A1,1317,9,116028532,116028532,IGR,SNP,A,G,,5,83,0,38
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,AMBP,259,9,116840372,116840372,Splice_Site,SNP,C,T,c.e1+1,7,254,0,105
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DFNB31,25861,9,117185669,117185669,Silent,SNP,G,A,c.(1549-1551)taC>taT,9,479,0,203
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TNC,3371,9,117810678,117810678,Silent,SNP,G,A,c.(4711-4713)gaC>gaT,8,528,0,322
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,C5,727,9,123762217,123762217,Intron,SNP,A,G,,5,162,0,58
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,C5,727,9,123762229,123762229,Intron,SNP,T,C,,8,121,0,53
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CNTRL,11064,9,123912530,123912530,Silent,SNP,C,T,c.(3730-3732)taC>taT,7,163,0,110
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NDUFA8,4702,9,124906576,124906576,Missense_Mutation,SNP,C,T,c.(463-465)Gag>Aag,7,471,0,295
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RC3H2,54542,9,125627757,125627757,Missense_Mutation,SNP,C,A,c.(1504-1506)aGt>aTt,45,234,0,172
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,STRBP,55342,9,125901906,125901906,Missense_Mutation,SNP,C,T,c.(1399-1401)Gat>Aat,7,246,0,115
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GOLGA1,2800,9,127651448,127651448,Missense_Mutation,SNP,C,T,c.(1735-1737)Gaa>Aaa,6,315,0,97
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZBTB43,23099,9,129595365,129595365,Missense_Mutation,SNP,G,A,c.(577-579)Gaa>Aaa,10,572,1,248
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,STXBP1,6812,9,130416022,130416022,Missense_Mutation,SNP,G,A,c.(115-117)aGg>aAg,6,418,0,219
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ENG,2022,9,130587622,130587622,Missense_Mutation,SNP,G,A,c.(703-705)aCg>aTg,11,682,0,257
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GLE1,2733,9,131300374,131300374,Intron,SNP,G,A,,6,225,0,191
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DOLK,22845,9,131709471,131709471,Missense_Mutation,SNP,C,T,c.(112-114)Gta>Ata,10,744,0,406
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,AL354898.1,0,9,133281544,133281544,Missense_Mutation,SNP,G,A,c.(892-894)cGg>cAg,13,623,0,240
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ASS1,445,9,133339504,133339504,Missense_Mutation,SNP,G,A,c.(370-372)Gat>Aat,9,599,0,338
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LAMC3,10319,9,133901690,133901690,Missense_Mutation,SNP,C,T,c.(391-393)aCg>aTg,9,323,0,231
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FCN2,2220,9,137777667,137777667,Silent,SNP,G,A,c.(481-483)acG>acA,9,366,0,126
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,OLFM1,10439,9,138011698,138011698,Missense_Mutation,SNP,G,A,c.(1132-1134)Gtg>Atg,7,518,0,239
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KCNT1,57582,9,138656951,138656951,Silent,SNP,G,A,c.(1051-1053)acG>acA,6,416,0,143
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KCNT1,57582,9,138678332,138678332,Missense_Mutation,SNP,G,A,c.(3388-3390)cGc>cAc,8,411,0,189
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MAN1B1,11253,9,139996480,139996480,Intron,SNP,C,T,,9,736,1,745
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EHMT1,79813,9,140708955,140708955,Missense_Mutation,SNP,G,A,c.(3253-3255)Gac>Aac,12,1158,1,362
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CACNA1B,774,9,141016368,141016368,Missense_Mutation,SNP,G,A,c.(6937-6939)Ggt>Agt,8,496,0,173
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DIP2C,22982,10,428564,428564,Intron,SNP,C,T,,7,168,0,115
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DIP2C,22982,10,530721,530721,Intron,SNP,C,T,,6,240,0,108
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LARP4B,23185,10,910082,910082,Silent,SNP,G,A,c.(268-270)caC>caT,5,207,0,115
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PITRM1,10531,10,3180506,3180506,Missense_Mutation,SNP,G,A,c.(2941-2943)Ctc>Ttc,6,423,0,172
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ECHDC3,79746,10,11797554,11797554,Missense_Mutation,SNP,G,A,c.(538-540)Ggg>Agg,8,577,0,237
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,COMMD3,23412,10,22605386,22605386,Silent,SNP,C,T,c.(40-42)Ctg>Ttg,9,356,0,115
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,YME1L1,10730,10,27405154,27405154,Missense_Mutation,SNP,T,C,c.(2011-2013)Aca>Gca,29,110,0,109
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF33B,7582,10,43088203,43088203,Missense_Mutation,SNP,C,T,c.(2194-2196)cGt>cAt,7,265,0,166
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RET,5979,10,43615023,43615023,Missense_Mutation,SNP,C,T,c.(2437-2439)Cgg>Tgg,8,504,0,278
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EGR2,1959,10,64573554,64573554,Missense_Mutation,SNP,C,T,c.(844-846)Gga>Aga,12,57,0,97
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CDH23,64072,10,73562689,73562689,Missense_Mutation,SNP,G,A,c.(7531-7533)cGg>cAg,8,343,0,204
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,VCL,7414,10,75830736,75830736,Missense_Mutation,SNP,C,T,c.(394-396)Cgt>Tgt,6,249,0,234
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,POLR3A,11128,10,79737262,79737262,Missense_Mutation,SNP,C,T,c.(4147-4149)Gaa>Aaa,79,272,0,250
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LDB3,11155,10,88492293,88492293,Intron,SNP,A,C,,5,287,0,147
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PANK1,53354,10,91353659,91353659,Silent,SNP,G,A,c.(1396-1398)ggC>ggT,6,209,0,96
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TM9SF3,56889,10,98287920,98287920,Missense_Mutation,SNP,G,A,c.(1408-1410)aCg>aTg,5,93,1,79
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ANKRD2,26287,10,99338120,99338120,Missense_Mutation,SNP,G,A,c.(394-396)Gcc>Acc,7,306,0,165
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PKD2L1,9033,10,102054388,102054388,Silent,SNP,G,A,c.(1561-1563)ctC>ctT,5,133,0,150
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SEMA4G,57715,10,102732773,102732773,Missense_Mutation,SNP,G,A,c.(103-105)cGg>cAg,5,228,0,208
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PPRC1,23082,10,103906777,103906777,Missense_Mutation,SNP,C,T,c.(4027-4029)cCg>cTg,5,127,0,119
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,C10orf95,79946,10,104211930,104211930,5'Flank,SNP,G,T,,6,93,0,42
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NEURL,0,10,105344365,105344365,Missense_Mutation,SNP,G,A,c.(721-723)cGc>cAc,6,190,0,75
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GPAM,57678,10,113920565,113920565,Missense_Mutation,SNP,C,T,c.(1555-1557)cGt>cAt,6,315,0,192
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ATRNL1,26033,10,117357171,117357171,Intron,SNP,A,C,,11,471,0,161
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ATRNL1,26033,10,117357246,117357246,Intron,SNP,T,C,,5,130,0,74
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MKI67,4288,10,129904582,129904582,Missense_Mutation,SNP,G,A,c.(5521-5523)aCa>aTa,6,144,0,132
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PIDD,0,11,801809,801809,Intron,SNP,G,A,,7,108,0,96
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SYT8,90019,11,1858019,1858019,Missense_Mutation,SNP,C,T,c.(760-762)Cgg>Tgg,8,440,0,159
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,IGF2,3481,11,2170523,2170523,De_novo_Start_InFrame,SNP,G,A,,9,498,0,322
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,INS-IGF2,723961,11,2170550,2170550,Silent,SNP,G,A,c.(211-213)tcC>tcT,7,315,0,268
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SMPD1,6609,11,6412135,6412135,Missense_Mutation,SNP,C,T,c.(307-309)Ctc>Ttc,7,466,0,225
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TRIM3,10612,11,6478212,6478212,Silent,SNP,G,A,c.(742-744)atC>atT,7,208,1,102
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ILK,3611,11,6630360,6630360,Silent,SNP,G,A,c.(589-591)acG>acA,6,253,0,214
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CTR9,9646,11,10789360,10789360,Missense_Mutation,SNP,C,T,c.(1693-1695)cCa>cTa,4,96,0,70
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SPON1,10418,11,13984602,13984602,RNA,SNP,C,G,,17,291,0,152
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ABCC8,6833,11,17427096,17427096,Missense_Mutation,SNP,G,A,c.(3343-3345)aCg>aTg,6,325,0,210
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PAMR1,25891,11,35463159,35463159,Silent,SNP,G,A,c.(901-903)aaC>aaT,7,362,0,226
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CHST1,8534,11,45671670,45671670,Silent,SNP,G,A,c.(802-804)gaC>gaT,8,312,0,149
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SLC35C1,55343,11,45832603,45832603,Missense_Mutation,SNP,C,T,c.(811-813)aCg>aTg,10,807,0,404
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ARHGAP1,392,11,46702842,46702842,Splice_Site,SNP,C,T,c.e6+1,5,104,0,102
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LRP4,4038,11,46896600,46896600,Missense_Mutation,SNP,C,T,c.(3979-3981)cGg>cAg,8,426,0,225
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PACSIN3,29763,11,47204254,47204254,Missense_Mutation,SNP,C,T,c.(25-27)Ggg>Agg,5,109,0,66
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NR1H3,10062,11,47289902,47289902,Missense_Mutation,SNP,C,T,c.(1192-1194)cCc>cTc,5,221,0,129
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,P2RX3,5024,11,57114138,57114138,Silent,SNP,C,T,c.(238-240)taC>taT,5,138,0,104
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EML3,256364,11,62370224,62370224,Intron,SNP,G,A,,6,294,1,142
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EML3,256364,11,62373381,62373381,Silent,SNP,C,T,c.(1726-1728)acG>acA,8,378,0,174
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RCOR2,283248,11,63681573,63681573,Silent,SNP,G,A,c.(742-744)taC>taT,8,484,0,310
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,VPS51,738,11,64877351,64877351,Missense_Mutation,SNP,G,A,c.(1834-1836)Gtc>Atc,8,456,1,203
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CDC42EP2,10435,11,65088449,65088449,Missense_Mutation,SNP,C,T,c.(79-81)tCg>tTg,7,173,0,145
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LTBP3,4054,11,65306875,65306875,Silent,SNP,G,A,c.(3682-3684)tgC>tgT,9,905,0,315
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MAP3K11,4296,11,65367235,65367235,Silent,SNP,G,A,c.(1063-1065)aaC>aaT,9,627,0,286
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SPTBN2,6712,11,66455730,66455730,Missense_Mutation,SNP,C,T,c.(6283-6285)cGg>cAg,12,802,1,405
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PC,5091,11,66618711,66618711,Missense_Mutation,SNP,G,A,c.(2023-2025)Cgt>Tgt,8,528,0,312
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LRP5,4041,11,68154082,68154082,Silent,SNP,C,T,c.(1312-1314)gaC>gaT,6,393,0,184
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PPP6R3,55291,11,68326105,68326105,Missense_Mutation,SNP,C,T,c.(802-804)gCa>gTa,7,259,0,145
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FGF4,2249,11,69589686,69589686,Missense_Mutation,SNP,G,A,c.(166-168)gCg>gTg,7,360,0,222
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ANO1,55107,11,70007288,70007288,Missense_Mutation,SNP,G,A,c.(1600-1602)Gtc>Atc,5,225,0,131
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SHANK2,22941,11,70754135,70754135,Intron,SNP,A,G,,4,54,0,44
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,STARD10,10809,11,72466545,72466545,Intron,SNP,A,G,,4,24,0,26
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RSF1,51773,11,77413191,77413191,Silent,SNP,G,A,c.(1081-1083)caC>caT,6,185,0,128
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KCTD21,283219,11,77885236,77885236,Missense_Mutation,SNP,G,A,c.(364-366)aCg>aTg,6,199,1,216
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SYTL2,54843,11,85419096,85419096,Intron,SNP,G,C,,6,77,0,42
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,Unknown,0,11,87038592,87038592,IGR,SNP,T,G,,4,32,0,61
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KDM4E,390245,11,94758895,94758895,Silent,SNP,G,A,c.(172-174)caG>caA,6,127,0,122
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CARD17,440068,11,104971252,104971252,Missense_Mutation,SNP,C,T,c.(262-264)Gga>Aga,4,64,0,70
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,HTR3A,3359,11,113848573,113848573,Missense_Mutation,SNP,C,T,c.(148-150)Cgc>Tgc,8,323,0,232
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,APOA5,116519,11,116662355,116662355,Silent,SNP,C,T,c.(106-108)ggG>ggA,9,649,1,385
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SIDT2,51092,11,117059535,117059535,Missense_Mutation,SNP,G,A,c.(1270-1272)cGc>cAc,5,112,0,86
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SLC37A4,2542,11,118898920,118898920,Missense_Mutation,SNP,C,T,c.(364-366)gGg>gAg,6,152,0,108
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PVRL1,5818,11,119535663,119535663,Missense_Mutation,SNP,C,T,c.(1348-1350)Gag>Aag,6,152,0,115
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TECTA,7007,11,121061412,121061412,Intron,SNP,C,T,,6,307,0,219
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SORL1,6653,11,121425905,121425905,Missense_Mutation,SNP,T,G,c.(2449-2451)Ttg>Gtg,46,106,1,112
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EI24,9538,11,125445805,125445805,Intron,SNP,G,A,,5,109,0,47
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RPUSD4,84881,11,126081486,126081486,Silent,SNP,G,A,c.(46-48)aaC>aaT,8,206,0,88
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DCPS,28960,11,126213197,126213197,Intron,SNP,C,T,,9,263,0,111
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SNX19,399979,11,130784751,130784751,Nonsense_Mutation,SNP,G,A,c.(1084-1086)Cga>Tga,5,201,1,156
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SNX19,399979,11,130785479,130785479,Missense_Mutation,SNP,C,T,c.(355-357)cGt>cAt,6,216,0,169
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,IGSF9B,22997,11,133800972,133800972,Missense_Mutation,SNP,G,A,c.(1426-1428)Cgt>Tgt,6,265,0,107
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,VPS26B,112936,11,134110020,134110020,Silent,SNP,G,A,c.(514-516)ctG>ctA,6,144,0,132
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CACNA2D4,93589,12,1955785,1955785,Missense_Mutation,SNP,C,T,c.(2317-2319)Gtg>Atg,7,293,0,139
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ITFG2,55846,12,2927068,2927068,Intron,SNP,C,A,,4,42,0,41
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,IFFO1,25900,12,6664524,6664524,Silent,SNP,C,T,c.(670-672)ccG>ccA,14,1006,0,412
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NOP2,4839,12,6667249,6667249,Intron,SNP,A,G,,8,189,1,88
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NOP2,4839,12,6673334,6673334,Intron,SNP,T,C,,5,154,0,85
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ACRBP,84519,12,6753599,6753599,Silent,SNP,C,T,c.(646-648)ggG>ggA,6,226,0,141
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TPI1,7167,12,6979719,6979719,3'UTR,SNP,G,A,,13,642,0,490
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PTPN6,5777,12,7061279,7061279,Missense_Mutation,SNP,C,T,c.(265-267)Cgc>Tgc,6,143,0,110
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RIMKLB,57494,12,8926135,8926135,Missense_Mutation,SNP,C,T,c.(916-918)Ctt>Ttt,6,270,0,237
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PTPRO,5800,12,15652507,15652507,Missense_Mutation,SNP,G,A,c.(640-642)Gaa>Aaa,6,274,0,166
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ABCC9,10060,12,21967619,21967619,Missense_Mutation,SNP,G,A,c.(4060-4062)tCg>tTg,9,396,0,234
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,OVCH1-AS1,101055625,12,29542598,29542598,Missense_Mutation,SNP,C,T,c.(160-162)Cgc>Tgc,9,512,1,209
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ERBB3,2065,12,56487189,56487189,Silent,SNP,C,G,c.(1333-1335)tcC>tcG,104,341,0,327
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ERBB3,2065,12,56488313,56488313,Missense_Mutation,SNP,G,A,c.(1831-1833)cGg>cAg,5,247,0,221
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,R3HDM2,22864,12,57648113,57648113,3'UTR,SNP,G,A,,5,56,0,35
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,INHBC,3626,12,57828863,57828863,Missense_Mutation,SNP,G,A,c.(193-195)cGc>cAc,7,464,0,239
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CYP27B1,1594,12,58158289,58158289,Silent,SNP,G,A,c.(1006-1008)caC>caT,9,666,1,376
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RAP1B,5908,12,69048024,69048024,Missense_Mutation,SNP,A,T,c.(316-318)Act>Tct,11,49,0,76
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,C12orf45,121053,12,105388285,105388285,Silent,SNP,G,A,c.(367-369)tcG>tcA,7,309,0,211
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,IFT81,28981,12,110654406,110654406,Intron,SNP,T,C,,5,107,0,73
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TPCN1,53373,12,113727958,113727958,Missense_Mutation,SNP,C,T,c.(1822-1824)Cgc>Tgc,64,164,0,103
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KSR2,283455,12,118405911,118405911,Silent,SNP,G,A,c.(148-150)gaC>gaT,6,297,0,146
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ABCB9,23457,12,123466588,123466588,5'Flank,SNP,G,A,,7,425,0,189
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EP400,57634,12,132529904,132529904,Silent,SNP,C,T,c.(6931-6933)gtC>gtT,6,254,0,167
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NOC4L,79050,12,132631821,132631821,Intron,SNP,C,T,,5,55,0,25
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,POLE,5426,12,133202855,133202855,Nonsense_Mutation,SNP,G,A,c.(6379-6381)Cga>Tga,8,592,0,266
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ATP7B,540,13,52520574,52520574,Missense_Mutation,SNP,C,T,c.(2905-2907)cGg>cAg,6,387,0,245
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RNF113B,140432,13,98829048,98829048,Missense_Mutation,SNP,C,T,c.(442-444)cGg>cAg,6,231,0,176
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SLC15A1,6564,13,99378414,99378414,Missense_Mutation,SNP,C,T,c.(208-210)Gga>Aga,5,151,0,98
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LAMP1,3916,13,113975958,113975958,Missense_Mutation,SNP,G,A,c.(1030-1032)Gtc>Atc,9,444,0,186
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ARHGEF40,55701,14,21546610,21546610,Missense_Mutation,SNP,G,A,c.(2209-2211)Gcc>Acc,5,102,0,67
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RPGRIP1,57096,14,21786363,21786363,Intron,SNP,A,T,,9,170,0,108
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CBLN3,643866,14,24898191,24898191,Missense_Mutation,SNP,G,A,c.(70-72)Ctt>Ttt,5,110,0,57
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EGLN3,112399,14,34419723,34419723,Missense_Mutation,SNP,G,A,c.(235-237)aCg>aTg,11,697,0,288
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KIAA0391,9692,14,35779489,35779489,Intron,SNP,G,A,,6,120,0,71
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NIN,51199,14,51219348,51219348,Missense_Mutation,SNP,C,T,c.(4837-4839)cGt>cAt,9,467,0,229
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PLEKHH1,57475,14,68045906,68045906,Missense_Mutation,SNP,C,T,c.(2905-2907)Cgg>Tgg,5,151,0,87
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LTBP2,4053,14,74975396,74975396,Missense_Mutation,SNP,G,A,c.(3562-3564)cCc>cTc,6,334,0,275
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FOS,2353,14,75747659,75747659,Silent,SNP,G,A,c.(673-675)ggG>ggA,7,210,0,229
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KCNK10,54207,14,88651951,88651951,Silent,SNP,C,T,c.(1543-1545)gaG>gaA,6,187,0,173
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FBLN5,10516,14,92409251,92409251,Splice_Site,SNP,C,T,c.(70-72)caG>caA,6,297,0,174
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RIN3,79890,14,93022191,93022191,Missense_Mutation,SNP,G,A,c.(139-141)cGc>cAc,9,712,0,317
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LGMN,5641,14,93178024,93178024,Missense_Mutation,SNP,C,T,c.(799-801)Gtc>Atc,6,171,0,113
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GLRX5,51218,14,96009409,96009409,Intron,SNP,C,T,,7,262,0,185
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DYNC1H1,1778,14,102499645,102499645,Missense_Mutation,SNP,C,T,c.(10237-10239)Cgc>Tgc,8,525,0,414
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PACS2,23241,14,105781375,105781375,Splice_Site,SNP,G,A,c.e1+1,5,90,0,24
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TMEM121,80757,14,105995560,105995560,Missense_Mutation,SNP,C,T,c.(388-390)gCg>gTg,8,444,0,198
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,IGHM,3507,14,106320535,106320535,RNA,SNP,G,A,,9,600,0,359
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ANKRD63,100131244,15,40574512,40574512,Silent,SNP,G,A,c.(274-276)tgC>tgT,7,489,1,254
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KNSTRN,90417,15,40681457,40681457,Intron,SNP,A,C,,4,49,0,44
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PLA2G4D,283748,15,42363487,42363487,Silent,SNP,G,A,c.(1708-1710)acC>acT,5,111,0,76
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TMEM87A,25963,15,42525500,42525500,Missense_Mutation,SNP,G,A,c.(973-975)Cgc>Tgc,37,90,0,102
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EPB42,2038,15,43495457,43495457,Silent,SNP,G,A,c.(1633-1635)atC>atT,6,297,0,265
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GATM,2628,15,45661699,45661699,Silent,SNP,G,A,c.(307-309)taC>taT,7,298,0,228
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,Unknown,0,15,49009319,49009319,IGR,SNP,C,T,,5,237,0,99
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TRPM7,54822,15,50902041,50902041,Missense_Mutation,SNP,C,T,c.(2398-2400)Gaa>Aaa,5,137,0,97
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MYO5C,55930,15,52540936,52540936,Silent,SNP,G,A,c.(1705-1707)acC>acT,5,232,0,130
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,Unknown,0,15,53230663,53230663,IGR,SNP,G,A,,7,137,0,92
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PYGO1,26108,15,55841108,55841108,Splice_Site,SNP,C,T,c.(133-135)caG>caA,5,167,0,87
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TCF12,6938,15,57210555,57210555,5'Flank,SNP,G,A,,5,66,0,53
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,POLR2M,81488,15,58004371,58004371,Silent,SNP,G,A,c.(946-948)caG>caA,6,134,1,145
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LIPC,3990,15,58840744,58840744,Missense_Mutation,SNP,G,A,c.(1024-1026)Gta>Ata,12,726,0,285
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MYO1E,4643,15,59523988,59523988,Silent,SNP,G,A,c.(421-423)caC>caT,8,345,0,280
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,USP3,9960,15,63822692,63822692,Intron,SNP,T,A,,4,40,0,31
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KIAA0101,9768,15,64675061,64675061,5'Flank,SNP,T,G,,3,32,0,15
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ANKDD1A,348094,15,65249522,65249522,Missense_Mutation,SNP,G,A,c.(1564-1566)Gag>Aag,6,86,0,42
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,AAGAB,79719,15,67500999,67500999,Intron,SNP,G,A,,6,203,0,120
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SKOR1,390598,15,68119501,68119501,Silent,SNP,C,T,c.(1333-1335)caC>caT,3,11,0,21
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,THSD4,79875,15,71507650,71507650,Missense_Mutation,SNP,G,A,c.(376-378)Ggt>Agt,10,756,0,218
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PKM,5315,15,72491719,72491719,3'UTR,SNP,C,T,,4,31,0,54
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CSPG4,1464,15,75968633,75968633,Missense_Mutation,SNP,C,T,c.(6226-6228)cGc>cAc,5,205,0,115
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CSPG4,1464,15,75975255,75975255,Missense_Mutation,SNP,G,A,c.(4576-4578)gCg>gTg,9,769,0,266
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ETFA,2108,15,76577176,76577176,Intron,SNP,C,T,,4,35,0,14
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ETFA,2108,15,76577195,76577195,Intron,SNP,T,C,,4,50,0,19
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RP11-114H24.4,0,15,78233783,78233783,RNA,SNP,C,T,,9,476,0,301
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ADAMTS7,11173,15,79092810,79092810,Silent,SNP,G,A,c.(178-180)taC>taT,8,916,0,493
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CTSH,1512,15,79225907,79225907,Intron,SNP,G,A,,4,76,0,24
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RASGRF1,5923,15,79292224,79292224,Silent,SNP,G,A,c.(2653-2655)gtC>gtT,7,242,0,145
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NTRK3,4916,15,88428966,88428966,Splice_Site,SNP,G,C,c.(2134-2136)Ctc>Gtc,4,40,0,33
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ABHD2,11057,15,89731456,89731456,Missense_Mutation,SNP,C,T,c.(847-849)cCc>cTc,6,230,0,121
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FANCI,55215,15,89843078,89843078,Missense_Mutation,SNP,C,T,c.(2683-2685)tCg>tTg,9,286,0,230
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RHCG,51458,15,90030221,90030221,Intron,SNP,G,A,,4,52,0,36
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TTLL13,440307,15,90799394,90799394,Silent,SNP,C,T,c.(568-570)taC>taT,5,67,0,90
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,UNC45A,55898,15,91486145,91486145,Missense_Mutation,SNP,C,T,c.(859-861)cCt>cTt,5,62,0,67
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,VPS33B,26276,15,91543210,91543210,Intron,SNP,G,A,,9,437,0,439
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PGPEP1L,145814,15,99512829,99512829,Nonsense_Mutation,SNP,G,A,c.(196-198)Cag>Tag,11,707,0,374
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ADAMTS17,170691,15,100692942,100692942,Missense_Mutation,SNP,C,T,c.(1348-1350)Gtc>Atc,7,409,0,268
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,C16orf11,0,16,615081,615081,Missense_Mutation,SNP,C,T,c.(1489-1491)aCc>aTc,5,78,0,73
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,HAGHL,84264,16,779121,779121,Missense_Mutation,SNP,G,A,c.(826-828)Gtt>Att,11,114,0,103
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CHTF18,63922,16,839665,839665,Missense_Mutation,SNP,G,A,c.(556-558)Gtc>Atc,8,242,0,102
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PKD1,5310,16,2164354,2164354,Silent,SNP,G,A,c.(2668-2670)aaC>aaT,10,776,0,419
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ABCA3,21,16,2334965,2334965,Missense_Mutation,SNP,G,A,c.(3517-3519)aCg>aTg,10,900,1,385
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF200,7752,16,3282467,3282467,Silent,SNP,C,T,c.(418-420)acG>acA,6,192,1,99
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,C16orf71,146562,16,4790466,4790466,Missense_Mutation,SNP,C,T,c.(589-591)Cgg>Tgg,8,190,0,135
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ROGDI,79641,16,4850587,4850587,Intron,SNP,G,A,,6,273,0,117
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PRM2,5620,16,11370034,11370034,Missense_Mutation,SNP,C,T,c.(193-195)cGg>cAg,8,585,0,300
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KIAA0430,9665,16,15690633,15690633,Missense_Mutation,SNP,C,T,c.(5146-5148)Gtg>Atg,6,177,0,112
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SDR42E2,100288072,16,22189457,22189457,Missense_Mutation,SNP,G,A,c.(298-300)gGc>gAc,7,377,0,138
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,COG7,91949,16,23400362,23400362,Missense_Mutation,SNP,C,T,c.(2191-2193)cGc>cAc,7,523,1,271
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PALB2,79728,16,23637665,23637665,Silent,SNP,G,A,c.(2638-2640)gcC>gcT,5,207,0,217
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GTF3C1,2975,16,27517449,27517449,Intron,SNP,G,A,,4,35,0,82
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SEZ6L2,26470,16,29883749,29883749,Missense_Mutation,SNP,C,T,c.(2587-2589)Gtt>Att,8,291,0,153
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SEZ6L2,26470,16,29884694,29884694,Silent,SNP,G,A,c.(2353-2355)taC>taT,9,354,0,179
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PPP4C,5531,16,30092552,30092552,Intron,SNP,G,A,,5,194,0,136
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF785,146540,16,30594357,30594357,Missense_Mutation,SNP,G,A,c.(742-744)Cgg>Tgg,8,635,0,246
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ITGAM,3684,16,31308942,31308942,Silent,SNP,G,A,c.(1462-1464)ggG>ggA,6,275,0,158
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TGFB1I1,7041,16,31488642,31488642,Silent,SNP,G,A,c.(1129-1131)gcG>gcA,6,163,0,87
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF423,23090,16,49669567,49669567,Intron,SNP,T,A,,9,16,0,16
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NUP93,9688,16,56871638,56871638,Splice_Site,SNP,G,A,c.(2017-2019)cGg>cAg,9,164,0,97
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FBXL8,55336,16,67197237,67197237,Silent,SNP,G,A,c.(637-639)gcG>gcA,6,279,0,232
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,E2F4,1874,16,67229838,67229838,Missense_Mutation,SNP,G,A,c.(961-963)aGt>aAt,9,875,0,312
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FHOD1,29109,16,67265564,67265564,Missense_Mutation,SNP,C,A,c.(2359-2361)aaG>aaT,5,144,0,98
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LRRC36,55282,16,67396151,67396151,Intron,SNP,T,C,,7,130,0,49
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ENKD1,84080,16,67697441,67697441,Silent,SNP,G,A,c.(760-762)gaC>gaT,7,330,0,113
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PRMT7,54496,16,68356277,68356277,Intron,SNP,G,T,,7,227,0,68
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CHST6,4166,16,75512547,75512547,Nonsense_Mutation,SNP,G,A,c.(1180-1182)Cga>Tga,8,443,0,226
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CMIP,80790,16,81735298,81735298,Missense_Mutation,SNP,G,A,c.(1789-1791)Gac>Aac,6,218,1,155
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,IRF8,3394,16,85945235,85945235,Missense_Mutation,SNP,C,T,c.(418-420)Cgc>Tgc,7,595,0,337
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CDT1,81620,16,88870946,88870946,Intron,SNP,C,T,,4,44,0,51
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CTD-2555A7.2,0,16,89119061,89119061,lincRNA,SNP,C,T,,10,383,0,131
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ACSF3,197322,16,89187214,89187214,Missense_Mutation,SNP,G,A,c.(1132-1134)Gtg>Atg,7,403,0,209
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SPG7,6687,16,89590105,89590105,Intron,SNP,G,A,,4,110,0,95
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CDK10,8558,16,89758300,89758300,Intron,SNP,G,A,,6,178,0,140
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FANCA,2175,16,89805896,89805896,Missense_Mutation,SNP,C,T,c.(4000-4002)Gct>Act,9,680,1,398
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PRPF8,10594,17,1565247,1565247,Silent,SNP,G,A,c.(3973-3975)ctC>ctT,5,132,0,195
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SGSM2,9905,17,2267912,2267912,Missense_Mutation,SNP,G,A,c.(955-957)Gtg>Atg,5,217,0,130
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,C17orf85,55421,17,3717772,3717772,Missense_Mutation,SNP,G,A,c.(1471-1473)Cgc>Tgc,5,86,0,77
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PLD2,5338,17,4718854,4718854,Silent,SNP,G,A,c.(1255-1257)gcG>gcA,5,125,0,106
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TP53,7157,17,7577538,7577538,Missense_Mutation,SNP,C,T,c.(742-744)cGg>cAg,58,187,1,233
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CTD-3157E16.1,0,17,15690745,15690745,lincRNA,SNP,G,A,,6,232,0,293
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CENPV,201161,17,16256484,16256484,Silent,SNP,C,T,c.(265-267)ccG>ccA,4,58,1,76
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MPRIP,23164,17,17030140,17030140,Missense_Mutation,SNP,G,A,c.(391-393)cGg>cAg,5,134,0,64
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MYO15A,51168,17,18023802,18023802,Missense_Mutation,SNP,G,A,c.(1687-1689)cGc>cAc,6,275,1,174
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FLOT2,2319,17,27209045,27209045,Splice_Site,SNP,G,A,c.(700-702)aCa>aTa,6,144,0,142
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ABHD15,116236,17,27893783,27893783,Missense_Mutation,SNP,C,T,c.(202-204)Gga>Aga,6,152,0,110
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GIT1,28964,17,27909935,27909935,Intron,SNP,C,T,,6,228,0,99
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RAD51D,5892,17,33427253,33427253,3'UTR,SNP,G,A,,6,94,0,176
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NLE1,54475,17,33461962,33461962,Intron,SNP,C,T,,8,53,0,42
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,AATF,26574,17,35378259,35378259,Missense_Mutation,SNP,G,A,c.(1492-1494)cGa>cAa,5,157,0,90
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KRT17,3872,17,39777329,39777329,Silent,SNP,G,A,c.(847-849)aaC>aaT,9,478,0,310
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,HCRT,3060,17,40336261,40336261,Missense_Mutation,SNP,C,T,c.(307-309)Gca>Aca,5,18,0,30
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,WNK4,65266,17,40945893,40945893,Intron,SNP,T,C,,8,185,0,80
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MPP2,4355,17,41957181,41957181,Missense_Mutation,SNP,C,T,c.(1393-1395)gGg>gAg,7,276,0,152
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MPP2,4355,17,41960368,41960368,Missense_Mutation,SNP,G,A,c.(427-429)cCc>cTc,7,289,0,150
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SLC4A1,6521,17,42328925,42328925,Silent,SNP,G,A,c.(2341-2343)tcC>tcT,6,266,0,240
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LRRC46,90506,17,45914163,45914163,Missense_Mutation,SNP,C,T,c.(643-645)Cgg>Tgg,7,565,0,310
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,HOXB2,3212,17,46622155,46622155,Missense_Mutation,SNP,G,A,c.(118-120)tCg>tTg,7,405,1,155
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CALCOCO2,10241,17,46940196,46940196,Intron,SNP,C,T,,4,59,0,64
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MBTD1,54799,17,49280184,49280184,Missense_Mutation,SNP,C,T,c.(940-942)aGa>aAa,7,395,0,237
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,YPEL2,388403,17,57430919,57430919,Intron,SNP,C,T,,6,222,0,146
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MRC2,9902,17,60743592,60743592,Missense_Mutation,SNP,G,A,c.(658-660)Ggc>Agc,4,55,0,45
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SCN4A,6329,17,62048618,62048618,Intron,SNP,G,A,,5,148,0,93
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SLC16A6P1,440459,17,62950461,62950461,RNA,SNP,T,C,,25,242,0,273
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,BPTF,2186,17,65914879,65914879,Missense_Mutation,SNP,C,T,c.(5731-5733)Cgg>Tgg,6,187,0,111
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KIF19,124602,17,72348196,72348196,Missense_Mutation,SNP,G,A,c.(1777-1779)cGc>cAc,7,313,0,139
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TMEM104,54868,17,72773796,72773796,Intron,SNP,C,T,,6,160,0,92
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MYO15B,80022,17,73592633,73592633,3'UTR,SNP,G,A,,7,391,0,185
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RECQL5,9400,17,73627718,73627718,Silent,SNP,G,A,c.(1258-1260)ttC>ttT,12,609,0,281
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ITGB4,3691,17,73736480,73736480,Missense_Mutation,SNP,G,A,c.(2488-2490)Gag>Aag,10,659,0,293
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EVPL,2125,17,74015088,74015088,Silent,SNP,C,T,c.(1189-1191)cgG>cgA,7,296,0,106
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DNAH17,8632,17,76481803,76481803,Missense_Mutation,SNP,G,A,c.(7297-7299)Cgc>Tgc,6,213,0,116
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DNAH17,8632,17,76567099,76567099,Silent,SNP,G,A,c.(847-849)aaC>aaT,7,223,0,127
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TIMP2,7077,17,76887876,76887876,Intron,SNP,C,T,,8,395,0,220
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CCDC40,55036,17,78055761,78055761,Silent,SNP,C,T,c.(1891-1893)gcC>gcT,6,380,0,281
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SGSH,6448,17,78195418,78195418,5'Flank,SNP,C,T,,9,578,0,246
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RNF213,57674,17,78298964,78298964,Silent,SNP,G,A,c.(3157-3159)acG>acA,5,73,0,67
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,BAIAP2-AS1,440465,17,79005238,79005238,lincRNA,SNP,A,G,,4,57,0,75
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LPIN2,9663,18,2922158,2922158,Silent,SNP,G,A,c.(2212-2214)atC>atT,12,614,0,272
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SOGA2,0,18,8720348,8720348,Missense_Mutation,SNP,G,A,c.(1291-1293)Gta>Ata,34,87,0,76
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LAMA3,3909,18,21519223,21519223,Missense_Mutation,SNP,G,A,c.(8899-8901)Gtg>Atg,7,376,0,307
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LOXHD1,125336,18,44124777,44124777,Intron,SNP,C,T,,5,107,0,74
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TCEB3B,51224,18,44559511,44559511,Missense_Mutation,SNP,G,A,c.(2125-2127)Cgg>Tgg,8,807,0,334
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF532,55205,18,56586107,56586107,Silent,SNP,G,A,c.(586-588)gaG>gaA,6,220,0,164
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ARID3A,1820,19,929795,929795,Silent,SNP,G,A,c.(265-267)gaG>gaA,8,443,0,247
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ABCA7,10347,19,1055155,1055155,Missense_Mutation,SNP,C,T,c.(4009-4011)aCc>aTc,9,443,0,204
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,C19orf26,255057,19,1235847,1235847,Missense_Mutation,SNP,G,A,c.(157-159)aCg>aTg,7,370,0,143
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GNG7,2788,19,2515033,2515033,Missense_Mutation,SNP,C,T,c.(193-195)tGt>tAt,7,174,0,102
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MAP2K2,5605,19,4101074,4101074,Silent,SNP,G,A,c.(646-648)agC>agT,6,299,0,202
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,UBXN6,80700,19,4446147,4446147,Missense_Mutation,SNP,G,A,c.(1099-1101)Cgg>Tgg,7,449,0,153
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KDM4B,23030,19,5041273,5041273,Intron,SNP,G,A,,5,72,0,48
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KDM4B,23030,19,5114198,5114198,Intron,SNP,C,T,,10,835,0,335
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RPL36,25873,19,5684089,5684089,Intron,SNP,C,T,,4,68,0,17
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MUC16,94025,19,9063418,9063418,Missense_Mutation,SNP,C,T,c.(24028-24030)Gca>Aca,5,87,0,97
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KANK2,25959,19,11285218,11285218,Missense_Mutation,SNP,C,T,c.(1999-2001)Ggc>Agc,9,753,0,325
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ECSIT,51295,19,11617189,11617189,Missense_Mutation,SNP,G,A,c.(1105-1107)aCg>aTg,6,236,0,148
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MAN2B1,4125,19,12774595,12774595,Missense_Mutation,SNP,G,A,c.(685-687)Cgg>Tgg,8,501,1,320
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DHPS,1725,19,12791909,12791909,Intron,SNP,A,G,,5,139,0,57
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RNASEH2A,10535,19,12921166,12921166,Silent,SNP,C,T,c.(583-585)ttC>ttT,12,456,0,379
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MAST1,22983,19,12979970,12979970,Missense_Mutation,SNP,G,A,c.(2863-2865)cGg>cAg,7,412,0,268
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DCAF15,90379,19,14065198,14065198,Missense_Mutation,SNP,G,A,c.(178-180)cGg>cAg,6,314,1,123
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,IL27RA,9466,19,14159820,14159820,Missense_Mutation,SNP,G,A,c.(1168-1170)cGa>cAa,7,259,0,221
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PALM3,342979,19,14164837,14164837,Silent,SNP,C,T,c.(1600-1602)acG>acA,7,212,0,169
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PKN1,5585,19,14557360,14557360,Silent,SNP,G,A,c.(595-597)ccG>ccA,6,217,0,87
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EMR3,84658,19,14765803,14765803,Missense_Mutation,SNP,C,T,c.(568-570)Gat>Aat,5,67,1,60
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EPHX3,79852,19,15342628,15342628,Silent,SNP,G,A,c.(286-288)aaC>aaT,7,382,1,216
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KXD1,79036,19,18679272,18679272,Missense_Mutation,SNP,C,T,c.(361-363)aCg>aTg,6,223,0,173
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ARMC6,93436,19,19150202,19150202,Intron,SNP,T,C,,5,161,0,69
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NCAN,1463,19,19338811,19338811,Silent,SNP,C,T,c.(2380-2382)tcC>tcT,5,59,0,112
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LPAR2,9170,19,19737470,19737470,Silent,SNP,G,A,c.(622-624)taC>taT,10,372,0,194
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF253,56242,19,20003253,20003253,Missense_Mutation,SNP,T,A,c.(1195-1197)gaT>gaA,6,244,0,189
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF90,7643,19,20232107,20232107,IGR,SNP,A,G,,5,220,1,62
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF430,80264,19,21240459,21240459,Missense_Mutation,SNP,A,G,c.(1345-1347)Ata>Gta,9,285,1,252
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF708,7562,19,21476519,21476519,Missense_Mutation,SNP,T,C,c.(1249-1251)Aag>Gag,4,94,1,127
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF429,353088,19,21719544,21719544,Missense_Mutation,SNP,G,A,c.(688-690)aGa>aAa,6,151,0,125
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF208,7757,19,22154081,22154081,Missense_Mutation,SNP,G,A,c.(3754-3756)cCc>cTc,7,305,1,233
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF208,7757,19,22157091,22157091,Missense_Mutation,SNP,C,T,c.(745-747)Gta>Ata,6,168,0,165
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF99,7652,19,22940775,22940775,Missense_Mutation,SNP,C,T,c.(1936-1938)Gag>Aag,12,248,0,318
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF724P,440519,19,23405354,23405354,Missense_Mutation,SNP,C,T,c.(1693-1695)Gaa>Aaa,7,289,1,246
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TDRD12,91646,19,33302283,33302283,Missense_Mutation,SNP,G,A,c.(3004-3006)tGt>tAt,7,337,0,222
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SLC7A10,56301,19,33700374,33700374,Silent,SNP,G,A,c.(1279-1281)ccC>ccT,4,72,0,99
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FFAR1,2864,19,35842957,35842957,Missense_Mutation,SNP,C,T,c.(502-504)cCg>cTg,10,1011,0,526
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ARHGAP33,115703,19,36270759,36270759,Intron,SNP,T,A,,4,51,0,29
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NPHS1,4868,19,36333318,36333318,Silent,SNP,C,T,c.(2467-2469)gcG>gcA,6,285,0,270
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KIRREL2,84063,19,36360639,36360639,IGR,SNP,G,A,,6,329,1,187
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,WDR62,284403,19,36556925,36556925,Intron,SNP,G,A,,6,206,1,150
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF260,339324,19,37006145,37006145,5'UTR,SNP,G,A,,2,0,0,15
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF850,342892,19,37239591,37239591,Missense_Mutation,SNP,A,G,c.(2350-2352)cTc>cCc,7,171,0,161
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF850,342892,19,37239593,37239593,Silent,SNP,C,T,c.(2347-2349)aaG>aaA,7,170,0,159
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF850,342892,19,37239677,37239677,Silent,SNP,T,C,c.(2263-2265)aaA>aaG,8,181,1,166
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RYR1,6261,19,39051893,39051893,Silent,SNP,C,T,c.(12421-12423)aaC>aaT,7,340,0,167
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,HNRNPL,3191,19,39329207,39329207,Nonsense_Mutation,SNP,G,A,c.(1387-1389)Cag>Tag,42,102,1,89
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RINL,126432,19,39361414,39361414,Missense_Mutation,SNP,C,T,c.(820-822)Gtg>Atg,8,321,0,211
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SPTBN4,57731,19,41018743,41018743,Missense_Mutation,SNP,G,A,c.(2047-2049)Gga>Aga,7,216,0,166
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CYP2S1,29785,19,41704360,41704360,Intron,SNP,C,T,,4,72,0,61
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,HNRNPUL1,11100,19,41808404,41808404,Intron,SNP,G,A,,5,82,0,62
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ATP5SL,55101,19,41937047,41937047,IGR,SNP,C,T,,7,250,0,212
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,POU2F2,5452,19,42595812,42595812,Intron,SNP,C,T,,4,28,0,69
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CIC,23152,19,42798468,42798468,Intron,SNP,G,A,,7,174,0,144
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CEACAM1,634,19,43020994,43020994,Intron,SNP,T,G,,6,248,0,75
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF226,7769,19,44681160,44681160,Missense_Mutation,SNP,C,T,c.(1744-1746)aCg>aTg,5,136,0,119
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NKPD1,284353,19,45656606,45656606,Silent,SNP,G,A,c.(421-423)ggC>ggT,9,291,1,163
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,VASP,7408,19,46027842,46027842,Missense_Mutation,SNP,C,T,c.(970-972)tCt>tTt,7,262,1,158
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,HIF3A,64344,19,46825104,46825104,Missense_Mutation,SNP,C,T,c.(1216-1218)Ccc>Tcc,9,438,0,149
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ARHGAP35,2909,19,47424921,47424921,Nonsense_Mutation,SNP,C,T,c.(2989-2991)Cga>Tga,6,233,0,166
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ARHGAP35,2909,19,47440619,47440619,Silent,SNP,G,A,c.(3778-3780)ccG>ccA,6,239,0,127
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GLTSCR2,29997,19,48254278,48254278,Missense_Mutation,SNP,G,A,c.(511-513)cGg>cAg,6,321,0,213
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TPRX2P,503627,19,48364566,48364566,Missense_Mutation,SNP,G,C,c.(778-780)Gcc>Ccc,25,69,0,78
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KCNJ14,3770,19,48965195,48965195,Missense_Mutation,SNP,C,T,c.(214-216)Cgc>Tgc,5,153,0,90
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SPHK2,56848,19,49132272,49132272,Silent,SNP,C,T,c.(1207-1209)Cta>Tta,51,161,0,112
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GYS1,2997,19,49484828,49484828,Silent,SNP,G,A,c.(1126-1128)aaC>aaT,7,418,0,241
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SLC17A7,57030,19,49935769,49935769,Intron,SNP,C,T,,4,91,0,73
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PRR12,57479,19,50100655,50100655,Silent,SNP,G,A,c.(3061-3063)acG>acA,8,536,0,246
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CTU1,90353,19,51607575,51607575,Silent,SNP,G,A,c.(250-252)ctC>ctT,10,906,0,278
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SIGLEC5,8778,19,52115529,52115529,Silent,SNP,C,T,c.(1609-1611)gaG>gaA,5,56,0,62
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF614,80110,19,52516475,52516475,IGR,SNP,G,A,,5,75,0,66
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LENG9,94059,19,54972763,54972763,IGR,SNP,C,T,,6,291,1,117
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF579,163033,19,56089446,56089446,Silent,SNP,G,A,c.(1558-1560)tcC>tcT,6,185,0,139
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EPN1,29924,19,56196782,56196782,Silent,SNP,C,T,c.(247-249)taC>taT,8,344,0,153
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NLRP13,126204,19,56435951,56435951,Intron,SNP,C,T,,6,161,0,108
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF671,79891,19,58234610,58234610,Silent,SNP,C,T,c.(235-237)ctG>ctA,4,63,0,48
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF814,730051,19,58385832,58385832,Missense_Mutation,SNP,A,G,c.(925-927)gTt>gCt,9,95,0,182
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZNF324,25799,19,58982331,58982331,Missense_Mutation,SNP,G,A,c.(472-474)Gtc>Atc,8,544,0,229
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SLC52A3,113278,20,746226,746226,Missense_Mutation,SNP,G,A,c.(193-195)Cgg>Tgg,7,355,0,260
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SIRPG,55423,20,1629939,1629939,Silent,SNP,G,A,c.(187-189)ccC>ccT,5,250,0,234
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LZTS3,0,20,3145488,3145488,Missense_Mutation,SNP,C,T,c.(1633-1635)cGt>cAt,9,598,0,294
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SIGLEC1,6614,20,3683769,3683769,Intron,SNP,C,T,,4,49,0,51
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,HSPA12B,116835,20,3732334,3732334,Missense_Mutation,SNP,G,A,c.(1582-1584)Ggc>Agc,5,207,0,114
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,AP5S1,55317,20,3804563,3804563,Silent,SNP,G,A,c.(220-222)cgG>cgA,5,229,0,137
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CHGB,1114,20,5904382,5904382,Nonsense_Mutation,SNP,G,A,c.(1591-1593)tGg>tAg,5,146,0,126
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MCM8,84515,20,5965602,5965602,Missense_Mutation,SNP,G,A,c.(1909-1911)Gta>Ata,5,179,0,165
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,COMMD7,149951,20,31291841,31291841,Silent,SNP,G,A,c.(508-510)acC>acT,5,72,0,109
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,BPIFB4,149954,20,31678606,31678606,Splice_Site,SNP,G,A,c.e8+1,5,135,0,98
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EDEM2,55741,20,33735046,33735046,Missense_Mutation,SNP,G,A,c.(16-18)Ctc>Ttc,5,118,0,44
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SLA2,84174,20,35242334,35242334,Missense_Mutation,SNP,G,A,c.(721-723)Ctc>Ttc,6,181,0,137
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SOGA1,140710,20,35444198,35444198,Silent,SNP,C,T,c.(931-933)tcG>tcA,6,261,1,152
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SRC,6714,20,36030858,36030858,Silent,SNP,C,T,c.(1135-1137)taC>taT,7,291,0,132
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CHD6,84181,20,40080611,40080611,Silent,SNP,G,A,c.(3376-3378)aaC>aaT,8,425,1,278
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CHD6,84181,20,40118553,40118553,Silent,SNP,G,A,c.(1543-1545)atC>atT,9,421,0,241
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MATN4,8785,20,43926865,43926865,Silent,SNP,C,T,c.(1492-1494)acG>acA,5,192,0,101
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PREX1,57580,20,47253052,47253052,Silent,SNP,C,T,c.(4114-4116)gcG>gcA,8,334,0,115
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PREX1,57580,20,47364361,47364361,Silent,SNP,C,T,c.(274-276)acG>acA,6,253,0,120
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SPATA2,9825,20,48524769,48524769,Missense_Mutation,SNP,C,T,c.(259-261)Ggc>Agc,7,348,0,165
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CYP24A1,1591,20,52779255,52779255,Splice_Site,SNP,C,T,c.e7+1,9,262,0,211
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RBM38,55544,20,55982845,55982845,Silent,SNP,G,A,c.(661-663)gcG>gcA,8,309,0,175
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GNAS,2778,20,57429050,57429050,Nonsense_Mutation,SNP,C,T,c.(730-732)Cga>Tga,9,914,1,399
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,HELZ2,85441,20,62196797,62196797,Silent,SNP,G,A,c.(3376-3378)ccC>ccT,7,427,0,192
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,C21orf37,100505929,21,18816429,18816429,Missense_Mutation,SNP,A,G,c.(91-93)tAc>tGc,7,214,0,71
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,URB1,9875,21,33734202,33734202,Splice_Site,SNP,G,A,c.(1636-1638)tgC>tgT,5,147,0,73
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CHAF1B,8208,21,37775105,37775105,Missense_Mutation,SNP,G,A,c.(712-714)cGt>cAt,6,196,0,119
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TMPRSS3,64699,21,43792529,43792529,3'UTR,SNP,T,C,,5,119,0,90
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ICOSLG,23308,21,45649566,45649566,Intron,SNP,C,T,,7,582,1,375
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,DNMT3L,29947,21,45670818,45670818,Nonsense_Mutation,SNP,G,A,c.(784-786)Cag>Tag,6,191,0,89
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TRPM2,7226,21,45802612,45802612,Silent,SNP,C,T,c.(1225-1227)atC>atT,7,280,0,155
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,COL18A1,80781,21,46897755,46897755,Missense_Mutation,SNP,C,T,c.(2341-2343)cCg>cTg,6,195,0,116
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ATP6V1E1,529,22,18101797,18101797,Intron,SNP,T,C,,5,224,0,115
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TUBA8,51807,22,18604438,18604438,Missense_Mutation,SNP,G,A,c.(196-198)Gtc>Atc,6,212,0,185
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,AP000350.4,0,22,24237158,24237158,3'UTR,SNP,G,A,,7,257,0,164
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MYO18B,84700,22,26165095,26165095,Silent,SNP,C,T,c.(1210-1212)aaC>aaT,56,177,0,168
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TFIP11,24144,22,26895407,26895407,Missense_Mutation,SNP,G,A,c.(991-993)aCg>aTg,6,380,1,167
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TTC28,23331,22,28379218,28379218,Missense_Mutation,SNP,G,A,c.(6436-6438)aCc>aTc,6,301,0,218
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PES1,23481,22,30976124,30976124,Missense_Mutation,SNP,A,G,c.(667-669)aTt>aCt,32,107,0,79
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SLC5A1,6523,22,32463003,32463003,Missense_Mutation,SNP,G,A,c.(289-291)Gcc>Acc,14,357,1,250
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,RFPL3,10738,22,32754116,32754116,Missense_Mutation,SNP,C,T,c.(58-60)Ccc>Tcc,6,141,1,181
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,BPIFC,254240,22,32843264,32843264,Missense_Mutation,SNP,G,C,c.(307-309)atC>atG,12,113,0,99
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MCM5,4174,22,35820214,35820214,Missense_Mutation,SNP,G,A,c.(2170-2172)cGc>cAc,7,475,0,140
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SOX10,6663,22,38382236,38382236,Intron,SNP,G,A,,8,513,0,154
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TMEM184B,25829,22,38641974,38641974,Missense_Mutation,SNP,C,T,c.(325-327)Gtg>Atg,7,213,0,84
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CSNK1E,1454,22,38694817,38694817,Missense_Mutation,SNP,C,T,c.(859-861)Gtc>Atc,7,276,0,120
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MIEF1,54471,22,39909519,39909519,Intron,SNP,C,T,,4,14,0,58
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MKL1,57591,22,40815192,40815192,Missense_Mutation,SNP,G,A,c.(1249-1251)aCg>aTg,10,668,0,371
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ARFGAP3,26286,22,43254433,43254433,5'Flank,SNP,T,C,,6,269,0,113
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,BRD1,23774,22,50169690,50169690,Intron,SNP,G,A,,9,826,0,326
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TTLL8,164714,22,50470285,50470285,Missense_Mutation,SNP,C,T,c.(1537-1539)Gtc>Atc,8,429,0,270
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MAPK8IP2,23542,22,51043143,51043143,Silent,SNP,C,T,c.(616-618)gaC>gaT,6,167,0,87
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ARSA,410,22,51064679,51064679,Silent,SNP,G,A,c.(874-876)ggC>ggT,7,635,0,302
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ARSD,414,X,2841352,2841352,Intron,SNP,A,T,,4,37,0,14
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PCYT1B,9468,X,24608202,24608202,Missense_Mutation,SNP,C,T,c.(424-426)Gta>Ata,6,65,0,42
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,VSIG4,11326,X,65253664,65253664,Missense_Mutation,SNP,T,A,c.(64-66)Atc>Ttc,4,20,0,36
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GJB1,2705,X,70443621,70443621,Nonsense_Mutation,SNP,C,T,c.(64-66)Cga>Tga,5,117,0,78
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,COL4A5,1287,X,107850057,107850057,Missense_Mutation,SNP,G,A,c.(2329-2331)cGt>cAt,6,186,0,159
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,IGSF1,3547,X,130411962,130411962,Missense_Mutation,SNP,C,T,c.(2188-2190)Gga>Aga,5,141,0,97
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FHL1,2273,X,135252139,135252139,5'UTR,SNP,G,A,,5,179,0,90
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FAM3A,60343,X,153740646,153740646,Intron,SNP,T,C,,6,118,0,38
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,NIPAL3,57185,1,24780692,24780693,Intron,INS,-,T,,17,9,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FNDC7,163479,1,109284567,109284568,3'UTR,INS,-,T,,0,3,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,OR10Z1,128368,1,158576684,158576684,Frame_Shift_Del,DEL,A,-,c.(454-456)ggafs,64,110,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EFEMP1,2202,2,56103719,56103719,Intron,DEL,A,-,,30,60,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,EPB41L5,57669,2,120830820,120830821,Intron,INS,-,G,,20,33,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MYO1B,4430,2,192265349,192265350,Intron,INS,-,T,,3,7,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MDH1B,130752,2,207621591,207621592,Intron,INS,-,G,,7,47,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ANO7,50636,2,242139672,242139673,Intron,INS,-,A,,14,27,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,OR5K4,403278,3,98073501,98073505,Frame_Shift_Del,DEL,TACAC,-,c.(802-810)gatacaccafs,4,164,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PHF10,55274,6,170112659,170112660,Intron,INS,-,C,,5,32,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PHTF2,57157,7,77483895,77483896,Intron,INS,-,G,,1,0,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,7,25,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FBXL13,222235,7,102467450,102467451,Intron,INS,-,G,,0,3,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ABCF2,10061,7,150916068,150916069,Intron,INS,-,G,,1,37,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,IDO1,3620,8,39776675,39776675,Intron,DEL,T,-,,4,27,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,GBA2,57704,9,35749945,35749946,5'Flank,INS,-,CC,,3,5,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PTEN,5728,10,89720711,89720712,Frame_Shift_Ins,INS,-,A,c.(862-864)gaafs,60,152,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MGEA5,10724,10,103573315,103573317,In_Frame_Del,DEL,CTA,-,c.(244-249)tttaga>tta,18,55,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,BDNF,627,11,27720770,27720771,Intron,INS,-,GC,,0,3,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LTBP3,4054,11,65319301,65319302,Intron,INS,-,AG,,8,13,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PAN2,9924,12,56716743,56716744,Intron,INS,-,T,,10,18,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TXNRD1,7296,12,104713469,104713470,Intron,INS,-,CA,,7,21,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KSR2,283455,12,117955480,117955480,Intron,DEL,C,-,,0,3,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,KSR2,283455,12,118111993,118111994,Intron,INS,-,T,,4,18,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,SCEL,8796,13,78130663,78130664,Intron,INS,-,ACG,,7,13,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,MT3,4504,16,56622889,56622890,5'Flank,INS,-,GA,,3,2,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PHF23,79142,17,7139477,7139478,Frame_Shift_Ins,INS,-,T,c.(766-771)gaggaafs,3,23,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ALOX12B,242,17,7976761,7976762,Intron,INS,-,C,,6,11,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TMC8,147138,17,76133182,76133183,Intron,INS,-,A,,4,21,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PIAS2,9063,18,44497427,44497432,5'Flank,DEL,TTAAGA,-,,4,1,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,STXBP2,6813,19,7705019,7705024,Intron,DEL,TGTGTG,-,,6,359,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,TIMM44,10469,19,7996171,7996172,Intron,INS,-,AC,,5,29,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,CYP4F8,11283,19,15729137,15729137,RNA,DEL,G,-,,15,71,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ELL,8178,19,18582002,18582003,Intron,DEL,AT,-,,0,1,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,USF2,7392,19,35760854,35760855,Frame_Shift_Del,DEL,CG,-,c.(376-378)ccgfs,6,5,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,FUT1,2523,19,49254370,49254371,Frame_Shift_Ins,INS,-,A,c.(166-171)tgcctgfs,0,26,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,LILRA6,79168,19,54745822,54745823,Intron,INS,-,GGC,,4,1,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,PFKL,5211,21,45744464,45744465,Frame_Shift_Ins,INS,-,C,c.(1741-1743)accfs,44,111,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,H1F0,3005,22,38202083,38202088,In_Frame_Del,DEL,CCAGTG,-,c.(532-537)ccagtgdel,5,159,,
RP-1532_PCProject_0524_T1_v4_Exome_OnPrem,ZBED1,9189,X,2420608,2420609,5'Flank,DEL,GC,-,,8,0,,
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ACAP3,116983,1,1238340,1238340,Missense_Mutation,SNP,A,T,c.(241-243)Ttc>Atc,25,348,0,134
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,KCNAB2,8514,1,6133786,6133786,Intron,SNP,C,T,,19,290,0,107
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,CELA2B,51032,1,15812393,15812393,Intron,SNP,C,A,,9,211,0,100
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,KIAA1522,57648,1,33235862,33235862,Missense_Mutation,SNP,C,T,c.(904-906)cCg>cTg,11,136,0,70
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,MRPS15,64960,1,36929397,36929397,Intron,SNP,G,T,,5,125,0,40
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,SSBP3-AS1,619518,1,54703768,54703768,Missense_Mutation,SNP,G,A,c.(28-30)aGa>aAa,7,91,0,61
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,INSRR,3645,1,156823914,156823914,Silent,SNP,G,A,c.(265-267)taC>taT,5,361,0,158
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,OR10J5,127385,1,159504970,159504970,Silent,SNP,C,T,c.(826-828)acG>acA,4,189,0,140
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,TLR5,7100,1,223286253,223286253,Missense_Mutation,SNP,C,T,c.(121-123)Gtc>Atc,15,277,0,177
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ZNF695,57116,1,247150416,247150416,Missense_Mutation,SNP,T,A,c.(1399-1401)gaA>gaT,4,191,1,160
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,OTOF,9381,2,26686955,26686955,Silent,SNP,G,A,c.(4978-4980)gaC>gaT,5,329,1,170
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,PLEK,5341,2,68620343,68620343,Missense_Mutation,SNP,A,G,c.(811-813)gAc>gGc,7,264,0,133
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,DYSF,8291,2,71743307,71743307,Intron,SNP,C,G,,21,508,0,276
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,MERTK,10461,2,112779932,112779932,Missense_Mutation,SNP,G,C,c.(2446-2448)gGc>gCc,6,406,0,217
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ZEB2,9839,2,145270177,145270177,Intron,SNP,C,G,,9,369,0,198
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,MYO3B,140469,2,171381119,171381119,Intron,SNP,G,A,,4,62,0,26
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,TTN,7273,2,179577934,179577934,Missense_Mutation,SNP,A,G,c.(25975-25977)cTg>cCg,5,249,0,199
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ZDBF2,57683,2,207174953,207174953,Missense_Mutation,SNP,T,A,c.(5701-5703)Tgt>Agt,9,220,0,147
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ANO7,50636,2,242157088,242157088,Intron,SNP,C,T,,34,389,0,181
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,THRB,7068,3,24231585,24231585,Missense_Mutation,SNP,G,A,c.(262-264)aCg>aTg,4,119,0,96
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,FYCO1,79443,3,45996857,45996857,Silent,SNP,G,A,c.(3826-3828)gaC>gaT,6,711,0,250
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,XCR1,2829,3,46062756,46062756,Silent,SNP,G,A,c.(682-684)ttC>ttT,6,578,0,239
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,UQCRC1,7384,3,48641814,48641814,Nonsense_Mutation,SNP,G,A,c.(478-480)Cag>Tag,18,351,0,168
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,CACNA1D,776,3,53796087,53796087,Silent,SNP,C,T,c.(3847-3849)gaC>gaT,6,776,0,345
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,FAM86DP,692099,3,75476728,75476728,RNA,SNP,G,A,,7,811,0,426
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ADPRH,141,3,119301171,119301171,Missense_Mutation,SNP,G,A,c.(154-156)aGa>aAa,22,459,0,186
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,LXN,56925,3,158387244,158387244,Silent,SNP,C,T,c.(346-348)ccG>ccA,4,92,0,69
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ABCF3,55324,3,183904073,183904073,Intron,SNP,G,A,,11,247,0,73
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ABCF3,55324,3,183904074,183904074,Intron,SNP,C,A,,10,242,0,73
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ZNF595,152687,4,86588,86588,3'UTR,SNP,T,C,,4,143,0,119
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,C4orf19,55286,4,37462425,37462425,Intron,SNP,A,G,,4,29,0,27
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,LRBA,987,4,151199045,151199045,Missense_Mutation,SNP,C,G,c.(8461-8463)Gac>Cac,10,147,0,62
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,PET112,0,4,152682114,152682114,Silent,SNP,G,T,c.(19-21)cgC>cgA,12,181,0,65
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,SYNPO,11346,5,149998220,149998220,Silent,SNP,G,A,c.(289-291)gcG>gcA,5,474,0,195
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,CCDC69,26112,5,150563046,150563046,Silent,SNP,G,A,c.(841-843)ttC>ttT,19,558,0,234
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,SLC36A2,153201,5,150712819,150712819,Missense_Mutation,SNP,C,A,c.(808-810)gGa>gTa,16,389,0,251
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ADRA1B,147,5,159399455,159399455,Missense_Mutation,SNP,C,T,c.(1519-1521)Ccg>Tcg,22,367,0,80
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,GABRP,2568,5,170239142,170239142,Missense_Mutation,SNP,G,T,c.(1201-1203)agG>agT,5,334,0,221
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,NEURL1B,54492,5,172113888,172113888,Missense_Mutation,SNP,G,A,c.(1627-1629)cGg>cAg,22,338,0,123
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,RREB1,6239,6,7230010,7230010,Missense_Mutation,SNP,G,A,c.(1678-1680)Gcc>Acc,5,223,0,76
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,PRSS16,10279,6,27218497,27218497,Missense_Mutation,SNP,C,T,c.(502-504)tCc>tTc,8,269,0,98
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,B3GALT4,8705,6,33245718,33245718,Silent,SNP,G,A,c.(520-522)acG>acA,5,402,0,145
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,SPACA1,81833,6,88775895,88775895,Intron,SNP,T,G,,3,41,0,37
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,CLVS2,134829,6,123332210,123332210,Missense_Mutation,SNP,G,T,c.(469-471)gGg>gTg,6,80,1,44
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,LAMA2,3908,6,129470155,129470155,Missense_Mutation,SNP,G,T,c.(940-942)tGt>tTt,13,487,1,329
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,RP11-307P5.1,0,6,148051114,148051114,lincRNA,SNP,G,A,,5,51,0,30
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,TRGV8,6982,7,38370053,38370053,RNA,SNP,C,G,,13,286,0,178
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,KCTD7,154881,7,66238696,66238696,Silent,SNP,T,A,c.(196-198)ccT>ccA,8,488,0,199
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,AUTS2,26053,7,69583190,69583190,Missense_Mutation,SNP,C,T,c.(595-597)Cgg>Tgg,5,201,1,73
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ELN,2006,7,73442548,73442548,Missense_Mutation,SNP,C,A,c.(31-33)Ccc>Acc,24,348,0,128
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,LAMB1,3912,7,107572833,107572833,Intron,SNP,C,A,,16,244,0,118
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,FOXP2,93986,7,114270070,114270070,Intron,SNP,G,A,,7,591,0,298
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,OR2A25,392138,7,143771540,143771540,Silent,SNP,G,A,c.(226-228)acG>acA,6,582,1,345
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,SPIDR,23514,8,48647918,48647918,Missense_Mutation,SNP,G,C,c.(2653-2655)tGt>tCt,14,504,0,267
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,XKR9,389668,8,71595773,71595773,Intron,SNP,C,A,,8,528,0,157
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,TMEM67,91147,8,94831213,94831213,IGR,SNP,T,A,,4,143,0,66
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,RIMS2,9699,8,104513143,104513143,Missense_Mutation,SNP,G,T,c.(28-30)cGc>cTc,8,228,0,71
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,DOCK8,81704,9,289571,289571,Missense_Mutation,SNP,G,A,c.(394-396)Gtg>Atg,5,346,0,161
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,CNTLN,54875,9,17495001,17495001,Nonstop_Mutation,SNP,T,C,c.(4216-4218)Tga>Cga,5,193,0,55
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,SLC24A2,25769,9,19786434,19786434,Missense_Mutation,SNP,T,C,c.(430-432)tAc>tGc,13,348,0,288
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,FANCC,2176,9,97885758,97885758,Intron,SNP,A,C,,7,294,0,97
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,IKBKAP,8518,9,111642455,111642455,Intron,SNP,C,T,,33,454,0,223
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,COL5A1,1289,9,137593162,137593162,Missense_Mutation,SNP,G,A,c.(637-639)Gat>Aat,24,655,0,314
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,GDF10,2662,10,48429220,48429220,Silent,SNP,G,A,c.(664-666)tcC>tcT,13,217,0,125
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ZMIZ1,57178,10,81050522,81050522,Intron,SNP,C,T,,6,417,0,122
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,CHUK,1147,10,101981874,101981874,Missense_Mutation,SNP,T,A,c.(379-381)gAt>gTt,7,168,0,105
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,CHUK,1147,10,101981875,101981875,Missense_Mutation,SNP,C,A,c.(379-381)Gat>Tat,7,173,0,106
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,C10orf95,79946,10,104210317,104210317,Missense_Mutation,SNP,G,C,c.(670-672)aCc>aGc,11,207,0,42
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,SPRN,503542,10,135281477,135281477,Intron,SNP,A,C,,6,34,0,15
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,DEAF1,10522,11,694962,694962,Missense_Mutation,SNP,G,A,c.(85-87)gCc>gTc,7,278,1,58
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,RBMXL2,27288,11,7111529,7111529,Silent,SNP,A,G,c.(1177-1179)tAa>tGa,47,781,0,256
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,AMPD3,272,11,10500278,10500278,Splice_Site,SNP,G,A,c.e3+1,6,692,0,315
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,RTN3,10313,11,63486305,63486305,Missense_Mutation,SNP,C,G,c.(331-333)Cag>Gag,5,222,0,124
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,MAP4K2,5871,11,64569552,64569552,Nonsense_Mutation,SNP,G,A,c.(352-354)Cga>Tga,30,395,0,136
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,CORO1B,57175,11,67206224,67206224,Missense_Mutation,SNP,G,A,c.(1261-1263)cCg>cTg,26,451,0,191
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,LRP5,4041,11,68207283,68207283,Silent,SNP,C,T,c.(4387-4389)Ctg>Ttg,23,404,0,161
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,SERPINH1,871,11,75277742,75277742,Silent,SNP,C,A,c.(346-348)cgC>cgA,33,769,0,288
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,RNF214,257160,11,117153902,117153902,Silent,SNP,G,A,c.(2020-2022)gcG>gcA,5,313,0,130
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,DDX11,1663,12,31236894,31236894,Missense_Mutation,SNP,T,C,c.(292-294)Tgc>Cgc,42,720,0,339
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,MCRS1,10445,12,49958359,49958359,Silent,SNP,G,A,c.(460-462)acC>acT,6,484,0,131
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ITGB7,3695,12,53590524,53590524,Missense_Mutation,SNP,G,A,c.(655-657)Cgg>Tgg,15,326,0,86
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,SLC35E3,55508,12,69160545,69160545,3'UTR,SNP,T,A,,8,333,0,122
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,RNF10,9921,12,121001308,121001308,Missense_Mutation,SNP,G,T,c.(1411-1413)gaG>gaT,10,297,0,127
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,RHOF,54509,12,122231532,122231532,Missense_Mutation,SNP,G,A,c.(7-9)gCc>gTc,6,331,0,180
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,SMAD9,4093,13,37453694,37453694,Silent,SNP,A,G,c.(133-135)Tta>Cta,24,672,0,309
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,PCNX,22990,14,71575538,71575538,Missense_Mutation,SNP,C,A,c.(6517-6519)aaC>aaA,16,333,0,155
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,CCDC85C,317762,14,100069780,100069780,Missense_Mutation,SNP,C,A,c.(517-519)Ggc>Tgc,5,164,0,15
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,DYNC1H1,1778,14,102473452,102473452,Intron,SNP,C,T,,5,253,0,145
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,LINGO1,84894,15,77940231,77940231,Intron,SNP,T,A,,11,187,0,102
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,CLCN7,1186,16,1498709,1498709,Missense_Mutation,SNP,G,A,c.(1855-1857)cCg>cTg,6,725,0,286
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,MAPK8IP3,23162,16,1814448,1814448,Silent,SNP,C,G,c.(2263-2265)ccC>ccG,24,333,0,110
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,MRPS34,65993,16,1822979,1822979,Missense_Mutation,SNP,G,T,c.(142-144)Cgc>Agc,10,120,0,42
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,IL32,9235,16,3115810,3115810,5'UTR,SNP,G,T,,37,585,0,175
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,C16orf89,146556,16,5094744,5094744,Missense_Mutation,SNP,A,C,c.(1048-1050)aTc>aGc,5,156,1,69
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,MKL2,57496,16,14340434,14340434,Silent,SNP,C,T,c.(1282-1284)agC>agT,36,620,0,267
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,CTD-2144E22.5,0,16,34257099,34257099,Missense_Mutation,SNP,G,A,c.(343-345)Ggg>Agg,17,204,0,82
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ABCC12,94160,16,48174817,48174817,Missense_Mutation,SNP,G,T,c.(436-438)caC>caA,9,151,0,93
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,FHOD1,29109,16,67267799,67267799,Missense_Mutation,SNP,G,T,c.(1807-1809)Cct>Act,10,115,0,68
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,INPP5K,51763,17,1399652,1399652,Silent,SNP,G,A,c.(1144-1146)gtC>gtT,6,576,0,171
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,SCARF1,8578,17,1546808,1546808,Missense_Mutation,SNP,G,A,c.(718-720)cCg>cTg,5,289,0,58
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,SERPINF2,5345,17,1655999,1655999,Silent,SNP,G,T,c.(976-978)ctG>ctT,22,443,1,241
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,CHD3,1107,17,7788228,7788228,Missense_Mutation,SNP,A,T,c.(103-105)gAg>gTg,9,228,0,63
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,C17orf103,0,17,21147503,21147503,Missense_Mutation,SNP,G,A,c.(139-141)aCg>aTg,5,326,0,128
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,TP53I13,90313,17,27898884,27898884,Missense_Mutation,SNP,C,G,c.(322-324)Ctg>Gtg,15,263,0,147
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,KLHL11,55175,17,40021305,40021305,Missense_Mutation,SNP,C,T,c.(319-321)Gag>Aag,6,104,0,51
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ITGA2B,3674,17,42454433,42454433,Silent,SNP,G,A,c.(2209-2211)agC>agT,41,580,1,229
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,MKS1,54903,17,56285297,56285297,Missense_Mutation,SNP,G,A,c.(1231-1233)Cgt>Tgt,9,833,1,407
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,AXIN2,8313,17,63534389,63534389,Silent,SNP,G,A,c.(1132-1134)Ctg>Ttg,16,459,0,169
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,SOX9,6662,17,70119099,70119099,Missense_Mutation,SNP,C,A,c.(670-672)cCc>cAc,29,269,0,143
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,KCTD1,284252,18,24128324,24128324,Intron,SNP,T,C,,6,115,0,36
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ABCA7,10347,19,1047539,1047539,Missense_Mutation,SNP,G,A,c.(2155-2157)Gtg>Atg,6,696,1,235
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,LONP1,9361,19,5696708,5696708,Silent,SNP,C,T,c.(1744-1746)acG>acA,11,236,0,79
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,CLEC4G,339390,19,7794712,7794712,Missense_Mutation,SNP,G,C,c.(736-738)agC>agG,15,221,0,88
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,MAST3,23031,19,18234148,18234148,Missense_Mutation,SNP,G,A,c.(433-435)cGg>cAg,6,305,0,165
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,CILP2,148113,19,19651220,19651220,Missense_Mutation,SNP,T,C,c.(370-372)cTc>cCc,8,194,0,76
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ZNF93,81931,19,20044933,20044933,Missense_Mutation,SNP,T,G,c.(1168-1170)gTt>gGt,5,114,0,113
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ZNF737,100129842,19,20728189,20728189,Missense_Mutation,SNP,T,C,c.(820-822)Aca>Gca,8,339,1,288
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,RGS9BP,388531,19,33167821,33167821,Missense_Mutation,SNP,G,A,c.(652-654)Ggc>Agc,30,348,0,152
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ZNF850,342892,19,37240760,37240760,Silent,SNP,A,G,c.(1180-1182)gaT>gaC,4,202,0,177
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,GRIN2D,2906,19,48917682,48917682,Missense_Mutation,SNP,G,C,c.(1252-1254)cGc>cCc,43,548,0,277
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ZNF749,388567,19,57956453,57956453,Missense_Mutation,SNP,G,A,c.(1936-1938)gGg>gAg,3,39,0,43
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,ZNF343,79175,20,2464529,2464529,Nonsense_Mutation,SNP,G,A,c.(1078-1080)Cga>Tga,4,98,1,71
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,C20orf194,25943,20,3262415,3262415,Intron,SNP,G,A,,5,172,0,101
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,DSTN,11034,20,17585191,17585191,Intron,SNP,T,A,,6,113,0,67
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,RRBP1,6238,20,17610562,17610562,Silent,SNP,G,A,c.(2653-2655)gaC>gaT,14,419,0,123
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,GID8,54994,20,61574867,61574867,Silent,SNP,G,C,c.(334-336)ctG>ctC,34,427,0,180
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,SLC17A9,63910,20,61598110,61598110,Intron,SNP,G,A,,16,197,0,88
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,NPTXR,23467,22,39224384,39224384,Missense_Mutation,SNP,C,A,c.(757-759)cGt>cTt,29,566,0,234
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,CRELD2,79174,22,50315226,50315226,Intron,SNP,C,A,,12,220,0,101
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,SBF1,6305,22,50906224,50906224,Silent,SNP,C,T,c.(268-270)gaG>gaA,27,316,0,134
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,Unknown,0,X,124456694,124456694,IGR,SNP,T,C,,4,172,0,83
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,KPNA6,23633,1,32626458,32626459,Intron,INS,-,CC,,0,0,,
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,TTC39A,22996,1,51810578,51810583,Intron,DEL,CTGTTT,-,,7,196,,
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,SLC26A5,375611,7,103029627,103029632,Intron,DEL,AGTGTG,-,,3,87,,
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,FAM208B,54906,10,5784033,5784037,Intron,DEL,TCATG,-,,4,104,,
RP-1532_PCProject_0525_T2_v3_Exome_OnPrem,AMELY,266,Y,6738161,6738162,Intron,INS,-,A,,0,19,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,CCNL2,81669,1,1323884,1323884,Intron,SNP,C,A,,6,608,0,99
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,DFFB,1677,1,3776982,3776982,Intron,SNP,A,G,,8,492,0,116
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RBP7,116362,1,10067027,10067027,Intron,SNP,T,C,,6,383,0,109
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,C1orf134,574037,1,16555531,16555531,Missense_Mutation,SNP,A,G,c.(88-90)cTa>cCa,5,294,0,59
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,HP1BP3,50809,1,21081896,21081896,Intron,SNP,T,C,,6,416,0,109
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RP1-27O5.3,0,1,33001799,33001799,Silent,SNP,C,G,c.(1486-1488)ggC>ggG,9,538,0,154
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,CYB5RL,606495,1,54645703,54645703,Intron,SNP,A,G,,7,545,0,119
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RSBN1,54665,1,114340272,114340272,Missense_Mutation,SNP,G,A,c.(1090-1092)Cac>Tac,4,110,0,239
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PTPN22,26191,1,114406886,114406886,Intron,SNP,G,C,,7,485,1,154
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PTPN22,26191,1,114406887,114406887,Intron,SNP,T,C,,7,481,1,152
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PTPN22,26191,1,114406895,114406895,Intron,SNP,T,C,,7,456,1,142
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PDE4DIP,9659,1,145075790,145075790,Missense_Mutation,SNP,G,A,c.(73-75)Cgg>Tgg,13,1992,0,399
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,F11R,50848,1,160970085,160970085,Missense_Mutation,SNP,G,A,c.(442-444)Cgg>Tgg,7,705,0,247
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RFWD2,64326,1,175956195,175956195,Missense_Mutation,SNP,T,C,c.(2017-2019)Aag>Gag,3,16,0,29
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,C4BPB,725,1,207263700,207263700,Missense_Mutation,SNP,G,T,c.(106-108)Gca>Tca,6,64,0,79
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,C4BPB,725,1,207268862,207268862,Intron,SNP,C,T,,6,186,0,31
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,C4BPB,725,1,207268863,207268863,Intron,SNP,T,G,,5,176,0,31
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ANGEL2,90806,1,213180351,213180351,Intron,SNP,A,G,,6,92,0,54
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF678,339500,1,227843257,227843257,Missense_Mutation,SNP,A,G,c.(1306-1308)Aaa>Gaa,4,81,0,121
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TTC7A,57217,2,47256405,47256405,Missense_Mutation,SNP,C,T,c.(1684-1686)Cgc>Tgc,32,1050,0,238
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,FAM161A,84140,2,62052972,62052972,3'UTR,SNP,T,C,,5,110,0,21
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,NCKAP5,344148,2,133683771,133683771,Intron,SNP,C,T,,4,47,0,36
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,UPP2,151531,2,158872354,158872354,Missense_Mutation,SNP,G,T,c.(103-105)Gtc>Ttc,6,420,1,159
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,WIPF1,7456,2,175431800,175431800,Missense_Mutation,SNP,C,T,c.(1453-1455)cGg>cAg,4,137,0,124
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TTN,7273,2,179594669,179594669,Missense_Mutation,SNP,G,A,c.(17359-17361)cCt>cTt,59,171,0,155
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SUMO1,7341,2,203096343,203096343,Intron,SNP,C,T,,6,439,0,153
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,Unknown,0,2,230889632,230889632,IGR,SNP,A,G,,6,199,0,41
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ASB18,401036,2,237123418,237123418,Missense_Mutation,SNP,C,T,c.(688-690)Ggc>Agc,28,147,0,13
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ATP2B2,491,3,10382299,10382299,Missense_Mutation,SNP,C,T,c.(3007-3009)Gtc>Atc,473,1433,0,447
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,DYNC1LI1,51143,3,32608145,32608145,Intron,SNP,G,A,,8,352,0,69
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,DYNC1LI1,51143,3,32608155,32608155,Intron,SNP,A,G,,6,366,0,86
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,EXOG,9941,3,38541220,38541220,Intron,SNP,T,C,,7,237,0,116
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SETD2,29072,3,47147249,47147249,Intron,SNP,A,C,,6,198,0,50
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,USP4,7375,3,49349988,49349988,Intron,SNP,A,G,,9,459,0,68
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,C3orf18,51161,3,50599946,50599946,Intron,SNP,A,G,,10,781,0,199
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,MYLK,4638,3,123457807,123457807,Silent,SNP,T,C,c.(523-525)ggA>ggG,158,990,0,300
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ACAD11,84129,3,132345602,132345602,Missense_Mutation,SNP,C,G,c.(1129-1131)cGg>cCg,17,66,0,107
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PCCB,5096,3,135979186,135979186,Intron,SNP,T,C,,6,159,0,45
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,B3GALNT1,8706,3,160807743,160807743,5'UTR,SNP,C,G,,7,147,0,38
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,B3GALNT1,8706,3,160807749,160807749,5'UTR,SNP,T,C,,6,164,0,45
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,NCEH1,57552,3,172353833,172353833,Missense_Mutation,SNP,T,C,c.(481-483)gAt>gGt,31,103,0,135
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ATP13A4,84239,3,193176857,193176857,Intron,SNP,A,G,,9,629,0,302
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,OPA1,4976,3,193385200,193385200,Intron,SNP,T,C,,6,134,0,69
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TM4SF19,116211,3,196046881,196046881,Intron,SNP,T,C,,5,141,0,36
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,KIAA0226,9711,3,197421036,197421036,Intron,SNP,C,A,,7,341,1,134
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF595,152687,4,87092,87092,3'UTR,SNP,C,T,,4,74,0,123
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,POLN,353497,4,2073874,2073874,Silent,SNP,T,G,c.(2668-2670)ccA>ccC,34,445,0,61
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,FAM193A,8603,4,2632802,2632802,Missense_Mutation,SNP,C,T,c.(70-72)cCg>cTg,24,1043,0,218
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,CC2D2A,57545,4,15521236,15521236,Intron,SNP,T,C,,4,65,0,38
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SEPSECS,51091,4,25161196,25161196,Intron,SNP,T,C,,8,287,0,53
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RP11-431M7.3,0,4,36261544,36261544,RNA,SNP,T,C,,8,618,0,204
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RP11-431M7.3,0,4,36261595,36261595,RNA,SNP,A,G,,6,407,0,139
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,LPHN3,23284,4,62936447,62936447,Missense_Mutation,SNP,G,A,c.(4231-4233)Gaa>Aaa,9,600,0,193
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,USP38,84640,4,144125592,144125592,Intron,SNP,A,G,,6,301,0,100
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RP11-487E13.1,0,4,178169415,178169415,Silent,SNP,G,T,c.(16-18)gcC>gcA,10,531,0,148
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RP11-487E13.1,0,4,178169434,178169434,5'UTR,SNP,C,A,,7,614,0,174
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SEMA5A,9037,5,9044504,9044504,Missense_Mutation,SNP,T,A,c.(3085-3087)gAc>gTc,37,402,0,154
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,DNAH5,1767,5,13786338,13786338,Missense_Mutation,SNP,C,T,c.(8770-8772)Gcc>Acc,41,145,0,216
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PARP8,79668,5,50037737,50037737,Intron,SNP,A,G,,6,352,0,99
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PARP8,79668,5,50037746,50037746,Intron,SNP,T,C,,7,301,0,88
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ADAMTS19,171019,5,128797333,128797333,Silent,SNP,G,C,c.(610-612)acG>acC,37,534,0,109
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,UBE2B,7320,5,133724688,133724688,Intron,SNP,A,G,,7,147,0,41
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,UBE2B,7320,5,133724719,133724719,Intron,SNP,C,T,,6,143,0,48
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TGFBI,7045,5,135397325,135397325,Intron,SNP,G,T,,277,972,0,365
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PPP2R2B,5521,5,146435277,146435277,5'UTR,SNP,G,A,,32,269,0,154
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SH3TC2,79628,5,148383296,148383296,IGR,SNP,T,C,,6,383,1,92
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,LARP1,23367,5,154179599,154179599,Silent,SNP,C,A,c.(1480-1482)ccC>ccA,29,186,0,62
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TSPAN17,26262,5,176084584,176084584,Missense_Mutation,SNP,C,T,c.(814-816)aCg>aTg,7,857,0,212
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,IRF4,3662,6,405040,405040,Silent,SNP,C,T,c.(1120-1122)caC>caT,79,318,0,153
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,FOXC1,2296,6,1612039,1612039,Silent,SNP,C,G,c.(1357-1359)ggC>ggG,12,643,1,79
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,EEF1E1,9521,6,8095644,8095644,Intron,SNP,G,A,,6,302,0,66
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,BTBD9,114781,6,38370594,38370594,Intron,SNP,T,A,,6,319,0,145
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,GLTSCR1L,23506,6,42820128,42820128,Intron,SNP,G,A,,6,442,0,125
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,MAD2L1BP,9587,6,43601012,43601012,5'Flank,SNP,G,C,,6,255,0,45
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SH3BGRL2,83699,6,80409209,80409209,Intron,SNP,T,A,,5,65,0,27
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,CGA,1081,6,87796297,87796297,Intron,SNP,G,C,,4,31,0,12
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SOBP,55084,6,107956108,107956108,Missense_Mutation,SNP,G,A,c.(2059-2061)cGc>cAc,170,473,0,51
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,REV3L,5980,6,111629391,111629391,Intron,SNP,A,T,,3,21,0,11
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RPS12,6206,6,133137012,133137012,Intron,SNP,T,C,,6,220,0,78
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,NOX3,50508,6,155749988,155749988,Missense_Mutation,SNP,G,A,c.(1084-1086)gCg>gTg,10,187,0,55
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TNRC18,84629,7,5353004,5353004,Silent,SNP,G,A,c.(7516-7518)ccC>ccT,6,753,1,123
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,DAGLB,221955,7,6474568,6474568,Missense_Mutation,SNP,G,A,c.(502-504)gCc>gTc,8,956,0,336
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,Unknown,0,7,63680313,63680313,IGR,SNP,G,A,,5,162,0,255
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,Unknown,0,7,63680589,63680589,IGR,SNP,A,G,,5,145,0,172
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TPST1,8460,7,65817520,65817520,Missense_Mutation,SNP,A,G,c.(1072-1074)gAc>gGc,8,124,0,74
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,KCTD7,154881,7,66094125,66094125,Missense_Mutation,SNP,A,G,c.(73-75)gAc>gGc,17,913,0,145
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,KCTD7,154881,7,66238696,66238696,Silent,SNP,T,A,c.(196-198)ccT>ccA,10,725,0,209
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RABGEF1,27342,7,66238786,66238786,3'UTR,SNP,A,G,,8,294,0,79
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,CYP3A43,64816,7,99447628,99447628,Intron,SNP,C,T,,12,873,0,152
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,CYP3A43,64816,7,99447658,99447658,Intron,SNP,A,C,,10,797,0,130
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,CYP3A43,64816,7,99447679,99447679,Intron,SNP,G,A,,17,672,0,113
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TRIM56,81844,7,100734924,100734924,IGR,SNP,T,C,,11,289,0,49
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TMEM229A,730130,7,123672479,123672479,Silent,SNP,C,T,c.(577-579)caG>caA,10,1602,1,234
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,METTL2B,55798,7,128142691,128142691,3'UTR,SNP,A,G,,8,385,0,84
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TRBV6-4,28603,7,142250871,142250871,RNA,SNP,C,A,,7,481,0,244
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,EPHB6,2051,7,142566325,142566325,Nonsense_Mutation,SNP,G,A,c.(2113-2115)tGg>tAg,10,1653,0,365
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,NOS3,4846,7,150700345,150700345,Missense_Mutation,SNP,T,C,c.(1858-1860)gTt>gCt,7,559,0,168
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TNFRSF10B,8795,8,22878147,22878147,3'UTR,SNP,C,G,,6,308,1,98
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RP11-738G5.2,0,8,50457066,50457066,Missense_Mutation,SNP,G,C,c.(10-12)aCg>aGg,6,259,0,109
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,XKR9,389668,8,71595773,71595773,Intron,SNP,C,A,,10,803,0,178
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,XKR9,389668,8,71595774,71595774,Intron,SNP,C,G,,7,808,0,178
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,XKR9,389668,8,71595843,71595843,Intron,SNP,T,C,,8,569,0,119
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RP11-383H13.1,0,8,72914470,72914470,Missense_Mutation,SNP,C,T,c.(175-177)tCg>tTg,6,202,0,101
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SLC7A13,157724,8,87227807,87227807,Intron,SNP,T,C,,6,214,0,58
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,LRRC69,100130742,8,92130455,92130455,Intron,SNP,G,A,,6,383,0,134
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TMEM67,91147,8,94831313,94831313,IGR,SNP,C,G,,6,414,0,141
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,BAALC,79870,8,104153172,104153172,Missense_Mutation,SNP,A,G,c.(46-48)tAc>tGc,295,1221,0,216
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,IFT74,80173,9,26982306,26982306,Intron,SNP,A,G,,10,621,1,147
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ACO1,48,9,32445661,32445661,Intron,SNP,G,A,,8,43,0,22
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ACO1,48,9,32445663,32445663,Intron,SNP,T,G,,5,43,0,20
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,GVQW1,101362076,9,32567353,32567353,Missense_Mutation,SNP,C,G,c.(289-291)ttC>ttG,7,441,0,134
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,FANCC,2176,9,97885751,97885751,Intron,SNP,A,G,,7,560,0,135
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,FANCC,2176,9,97885758,97885758,Intron,SNP,A,C,,12,549,1,136
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,MYO3A,53904,10,26463131,26463131,Missense_Mutation,SNP,G,A,c.(3937-3939)cGt>cAt,40,132,0,157
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF33A,7581,10,38328421,38328421,Intron,SNP,G,C,,5,365,0,130
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,LDB3,11155,10,88492293,88492293,Intron,SNP,A,C,,6,529,0,220
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,DEAF1,10522,11,651324,651324,Intron,SNP,T,C,,6,266,0,69
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RRM1,6240,11,4126848,4126848,Intron,SNP,C,T,,7,216,0,51
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RPS13,6207,11,17098025,17098025,Intron,SNP,T,C,,6,171,0,25
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RPS13,6207,11,17098034,17098034,Intron,SNP,T,C,,6,193,0,26
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,LGR4,55366,11,27397908,27397908,Missense_Mutation,SNP,C,A,c.(1117-1119)caG>caT,4,32,0,24
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ATG13,9776,11,46691006,46691006,Missense_Mutation,SNP,A,G,c.(1399-1401)tAt>tGt,58,144,0,193
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,Unknown,0,11,57596704,57596704,IGR,SNP,T,C,,6,269,1,52
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SLC3A2,6520,11,62644279,62644279,Intron,SNP,A,G,,6,329,0,75
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SHANK2,22941,11,70753991,70753991,Intron,SNP,A,G,,8,707,0,209
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SHANK2,22941,11,70754005,70754005,Intron,SNP,G,A,,7,726,0,198
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SHANK2,22941,11,70754013,70754013,Intron,SNP,T,C,,15,716,0,194
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,STARD10,10809,11,72466545,72466545,Intron,SNP,A,G,,5,151,0,26
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,FAM168A,23201,11,73130927,73130927,Missense_Mutation,SNP,G,A,c.(295-297)gCg>gTg,5,296,0,123
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SYTL2,54843,11,85419096,85419096,Intron,SNP,G,C,,8,203,1,43
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TMEM135,65084,11,86988378,86988378,Intron,SNP,A,G,,5,193,0,64
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,GRM5,2915,11,88658934,88658934,Intron,SNP,C,G,,10,641,0,186
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RDX,5962,11,110143749,110143749,Intron,SNP,T,C,,7,334,0,132
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,VWF,7450,12,6061037,6061037,Missense_Mutation,SNP,T,C,c.(8128-8130)Aaa>Gaa,7,259,0,239
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,NOP2,4839,12,6667214,6667214,Intron,SNP,C,G,,11,352,0,104
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,NOP2,4839,12,6667234,6667234,Intron,SNP,A,G,,7,453,1,122
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,NOP2,4839,12,6667249,6667249,Intron,SNP,A,G,,12,490,0,123
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TENC1,23371,12,53453747,53453747,Silent,SNP,C,T,c.(2320-2322)ccC>ccT,67,482,0,148
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,HOXC13,3229,12,54332786,54332786,Silent,SNP,C,A,c.(94-96)ggC>ggA,7,547,1,67
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SSH1,54434,12,109230761,109230761,Intron,SNP,T,C,,6,400,1,94
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,IFT81,28981,12,110654349,110654349,Intron,SNP,A,G,,9,690,0,158
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,IFT81,28981,12,110654361,110654361,Intron,SNP,T,C,,12,570,0,132
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,IFT81,28981,12,110654406,110654406,Intron,SNP,T,C,,7,319,0,99
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ACAD10,80724,12,112148158,112148158,Intron,SNP,G,C,,7,447,0,96
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,IQCD,115811,12,113645039,113645039,Intron,SNP,A,G,,5,121,0,35
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,IQCD,115811,12,113645125,113645125,Intron,SNP,T,C,,5,228,0,75
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SDSL,113675,12,113863630,113863630,Intron,SNP,A,T,,11,282,0,36
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZDHHC20,253832,13,21949145,21949145,IGR,SNP,A,C,,5,123,0,22
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TPTE2P1,646405,13,25516137,25516137,RNA,SNP,T,C,,5,248,0,44
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TPTE2P1,646405,13,25516213,25516213,RNA,SNP,A,G,,7,268,0,48
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,POSTN,10631,13,38160965,38160965,Missense_Mutation,SNP,G,A,c.(706-708)tCa>tTa,8,53,0,169
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,GUCY1B2,2974,13,51599479,51599479,RNA,SNP,G,A,,27,81,0,95
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ATP7B,540,13,52532675,52532675,Silent,SNP,G,A,c.(2125-2127)ctC>ctT,109,543,1,282
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,DOCK9,23348,13,99537596,99537596,Intron,SNP,A,G,,5,120,0,23
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,DOCK9,23348,13,99537678,99537678,Intron,SNP,C,T,,7,278,0,51
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RPGRIP1,57096,14,21786286,21786286,Intron,SNP,G,A,,8,627,0,175
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,AP4S1,11154,14,31552750,31552750,Intron,SNP,A,G,,6,294,0,97
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,FSCB,84075,14,44974154,44974154,Silent,SNP,A,G,c.(2035-2037)ccT>ccC,11,748,2,221
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PIGH,5283,14,68058961,68058961,Intron,SNP,A,G,,6,246,0,71
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ADAM21,8747,14,70924287,70924287,Missense_Mutation,SNP,C,G,c.(70-72)tCt>tGt,66,197,0,72
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ADCK1,57143,14,78294233,78294233,Intron,SNP,G,A,,6,315,0,71
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ADCK1,57143,14,78294258,78294258,Intron,SNP,A,G,,5,198,0,49
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ITPK1,3705,14,93408083,93408083,Silent,SNP,G,A,c.(1066-1068)agC>agT,144,1819,0,387
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,WDR20,91833,14,102664725,102664725,Intron,SNP,A,G,,4,76,0,22
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PPP1R13B,23368,14,104260912,104260912,Intron,SNP,A,G,,7,215,1,51
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PPP1R13B,23368,14,104260931,104260931,Intron,SNP,T,C,,7,291,0,87
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PPP1R13B,23368,14,104260934,104260934,Intron,SNP,A,G,,6,301,0,91
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,IGHV3-43,28426,14,106926493,106926493,RNA,SNP,C,A,,125,322,0,162
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,MKRN3,7681,15,23811531,23811531,Missense_Mutation,SNP,C,T,c.(601-603)gCg>gTg,13,1032,0,189
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,CASC5,57082,15,40903046,40903046,Silent,SNP,T,C,c.(298-300)ttT>ttC,8,666,0,128
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PLA2G4E,123745,15,42282365,42282365,Nonsense_Mutation,SNP,G,T,c.(1537-1539)taC>taA,70,265,0,103
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PPIP5K1,9677,15,43828354,43828354,Intron,SNP,C,T,,5,239,0,75
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ANXA2,302,15,60690080,60690080,Intron,SNP,A,T,,5,124,0,18
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,MAN2C1,4123,15,75658313,75658313,Intron,SNP,T,A,,9,508,0,133
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,MAN2C1,4123,15,75658325,75658325,Intron,SNP,A,G,,7,454,1,109
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,DNM1P46,196968,15,100330531,100330531,RNA,SNP,T,C,,10,280,0,63
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,CTD-2054N24.2,0,15,100353261,100353261,Silent,SNP,A,G,c.(214-216)ctA>ctG,7,457,0,194
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,CTD-2054N24.2,0,15,100353271,100353271,Missense_Mutation,SNP,T,C,c.(226-228)Tcc>Ccc,10,426,1,164
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RP11-89K11.1,0,15,102279892,102279892,Intron,SNP,T,C,,6,357,0,82
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RP11-89K11.1,0,15,102279895,102279895,Intron,SNP,A,G,,6,358,0,82
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TPSAB1,7177,16,1293095,1293095,IGR,SNP,C,T,,6,262,0,46
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,HAGH,3029,16,1866978,1866978,Silent,SNP,G,A,c.(661-663)caC>caT,8,1153,0,181
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TVP23A,780776,16,10902392,10902392,Intron,SNP,A,G,,6,278,0,123
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,GPR139,124274,16,20043706,20043706,Missense_Mutation,SNP,G,A,c.(412-414)aCg>aTg,76,540,0,209
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,FUS,2521,16,31204460,31204460,IGR,SNP,T,A,,7,259,0,57
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,FUS,2521,16,31205888,31205888,IGR,SNP,G,A,,7,550,0,162
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,Unknown,0,16,33954034,33954034,IGR,SNP,A,G,,6,401,0,50
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RPGRIP1L,23322,16,53656211,53656211,Missense_Mutation,SNP,A,G,c.(3352-3354)Ttc>Ctc,8,578,0,96
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,BEAN1,146227,16,66516884,66516884,IGR,SNP,T,C,,7,283,0,86
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF23,7571,16,71484595,71484595,Intron,SNP,T,C,,7,309,0,75
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,WDR81,124997,17,1640882,1640882,Missense_Mutation,SNP,A,C,c.(5728-5730)gAg>gCg,13,830,0,207
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TP53,7157,17,7577538,7577538,Missense_Mutation,SNP,C,T,c.(742-744)cGg>cAg,235,564,0,271
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RP11-156P1.2,0,17,45043990,45043990,Missense_Mutation,SNP,T,C,c.(673-675)aTa>aCa,9,285,0,98
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,LRRC46,90506,17,45914117,45914117,Splice_Site,SNP,C,A,c.(595-597)ggC>ggA,22,821,0,185
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,COG1,9382,17,71201722,71201722,Missense_Mutation,SNP,C,T,c.(2413-2415)Cgg>Tgg,118,518,0,314
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TNRC6C,57690,17,76047548,76047548,Intron,SNP,G,T,,12,72,1,22
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF521,25925,18,22805640,22805640,Missense_Mutation,SNP,C,T,c.(2242-2244)Gaa>Aaa,59,277,0,216
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,MBD3,53615,19,1575265,1575265,IGR,SNP,T,C,,13,461,0,79
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ATP8B3,148229,19,1791842,1791842,Missense_Mutation,SNP,T,C,c.(2209-2211)Atc>Gtc,33,1274,0,278
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ATP8B3,148229,19,1799779,1799779,Intron,SNP,T,A,,5,154,0,32
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TBXA2R,6915,19,3594985,3594985,3'UTR,SNP,C,G,,9,693,0,127
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TNFAIP8L1,126282,19,4652290,4652290,Missense_Mutation,SNP,G,A,c.(409-411)Gcc>Acc,8,968,0,189
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,CATSPERD,257062,19,5753544,5753544,Intron,SNP,A,G,,5,142,0,23
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ARHGEF18,23370,19,7537796,7537796,IGR,SNP,G,C,,5,216,0,41
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,CACNA1A,773,19,13318774,13318774,Missense_Mutation,SNP,T,G,c.(6874-6876)Acc>Ccc,20,104,0,9
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,EMR3,84658,19,14736338,14736338,Missense_Mutation,SNP,G,T,c.(1885-1887)tCc>tAc,32,126,0,127
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,BRD4,23476,19,15349648,15349648,Missense_Mutation,SNP,G,A,c.(3925-3927)aCc>aTc,7,736,0,121
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SMIM7,79086,19,16770065,16770065,Intron,SNP,A,G,,6,232,0,49
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,UNC13A,23025,19,17740965,17740965,Missense_Mutation,SNP,G,A,c.(3658-3660)Cgc>Tgc,48,336,0,87
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RFXANK,8625,19,19311637,19311637,Intron,SNP,C,T,,7,128,0,17
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF430,80264,19,21240459,21240459,Missense_Mutation,SNP,A,G,c.(1345-1347)Ata>Gta,5,148,0,256
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF708,7562,19,21476519,21476519,Missense_Mutation,SNP,T,C,c.(1249-1251)Aag>Gag,4,53,0,76
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF429,353088,19,21720805,21720805,Silent,SNP,T,C,c.(1948-1950)caT>caC,5,210,0,89
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF729,100287226,19,22499687,22499687,Silent,SNP,A,G,c.(3466-3468)gtA>gtG,5,159,1,190
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF99,7652,19,22936998,22936998,IGR,SNP,G,A,,6,254,1,65
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF99,7652,19,22940296,22940296,Silent,SNP,T,C,c.(2413-2415)agA>agG,6,106,1,116
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF91,7644,19,23542226,23542226,Silent,SNP,T,C,c.(3553-3555)acA>acG,6,88,0,34
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF91,7644,19,23542247,23542247,Missense_Mutation,SNP,C,G,c.(3532-3534)atG>atC,6,92,0,53
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF91,7644,19,23542271,23542271,Silent,SNP,C,T,c.(3508-3510)gcG>gcA,5,130,0,71
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,KMT2B,9757,19,36223364,36223364,Missense_Mutation,SNP,G,C,c.(5914-5916)Gac>Cac,11,812,0,147
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PRODH2,58510,19,36297954,36297954,Missense_Mutation,SNP,G,A,c.(895-897)Cgg>Tgg,10,1005,1,184
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,NFKBID,84807,19,36381499,36381499,Intron,SNP,T,C,,8,1209,0,230
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,HKR1,284459,19,37850409,37850409,Intron,SNP,A,G,,5,213,1,46
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF570,148268,19,37975757,37975757,Silent,SNP,A,G,c.(1231-1233)gaA>gaG,4,120,0,128
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,NUP62,23636,19,50410836,50410836,3'UTR,SNP,T,C,,5,278,0,72
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF761,388561,19,53958934,53958934,RNA,SNP,T,C,,5,155,0,317
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ATRN,8455,20,3596497,3596497,Intron,SNP,G,A,,6,460,0,149
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RNF24,11237,20,3955017,3955017,Intron,SNP,A,G,,5,174,0,140
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,BPI,671,20,36938971,36938971,Silent,SNP,G,A,c.(463-465)acG>acA,11,868,0,224
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZFP64,55734,20,50715064,50715064,Missense_Mutation,SNP,G,C,c.(826-828)Ccg>Gcg,7,599,0,219
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,APP,351,21,27318260,27318260,Intron,SNP,A,G,,6,296,1,111
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,APP,351,21,27318267,27318267,Intron,SNP,A,G,,5,288,1,113
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ATP5O,539,21,35279050,35279050,Intron,SNP,A,G,,12,590,0,227
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,LINC00479,150135,21,43133798,43133798,lincRNA,SNP,C,G,,15,616,0,113
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PRDM15,63977,21,43274904,43274904,Silent,SNP,G,A,c.(1405-1407)ccC>ccT,5,400,0,55
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SEC14L3,266629,22,30867165,30867165,Intron,SNP,A,G,,9,181,0,40
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,DDX17,10521,22,38890064,38890064,Silent,SNP,T,C,c.(1285-1287)agA>agG,6,40,0,69
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,MGAT3,4248,22,39882255,39882255,Intron,SNP,T,C,,6,251,0,68
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,MEI1,150365,22,42110082,42110082,Intron,SNP,C,A,,20,205,0,99
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,XIAP,331,X,123045492,123045492,3'UTR,SNP,T,C,,4,71,0,17
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PLOD1,5351,1,12032796,12032796,Intron,DEL,C,-,,24,67,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,USP24,23358,1,55612563,55612563,Intron,DEL,T,-,,4,27,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SH3GLB1,51100,1,87200300,87200301,Frame_Shift_Ins,INS,-,T,c.(586-588)agafs,6,26,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,DPYD,1806,1,98187193,98187193,Frame_Shift_Del,DEL,T,-,c.(355-357)gacfs,5,43,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,FAM129A,116496,1,184772647,184772647,Intron,DEL,A,-,,7,29,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,MPHOSPH10,10199,2,71360637,71360637,Frame_Shift_Del,DEL,T,-,c.(697-699)gatfs,8,19,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,DCAF17,80067,2,172325591,172325592,Intron,INS,-,G,,7,44,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,WDR52,0,3,113052208,113052209,Intron,INS,-,G,,3,15,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,GOLGB1,2804,3,121441075,121441076,Intron,INS,-,T,,8,36,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,HSPBAP1,79663,3,122496578,122496579,Frame_Shift_Ins,INS,-,T,c.(238-240)agcfs,7,22,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,PRKCI,5584,3,169981164,169981168,Splice_Site,DEL,CAGTG,-,c.(313-315)cagdel,4,105,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TECRL,253017,4,65194352,65194353,Intron,INS,-,A,,5,4,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,GRSF1,2926,4,71705099,71705120,Intron,DEL,GGCGCACACGGAGGGACGGAGG,-,,87,876,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,C4orf21,0,4,113540174,113540175,Frame_Shift_Del,DEL,TA,-,c.(1021-1026)tctactfs,5,34,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZNF330,27309,4,142143498,142143499,Intron,INS,-,A,,4,25,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TMEM167A,153339,5,82361034,82361035,Intron,INS,-,G,,6,4,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,RIOK2,55781,5,96503204,96503204,Frame_Shift_Del,DEL,A,-,c.(1363-1365)ttgfs,10,50,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ME1,4199,6,84117523,84117526,Frame_Shift_Del,DEL,ACTA,-,c.(172-177)gtagtafs,7,66,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ROS1,6098,6,117687507,117687508,Intron,INS,-,A,,4,21,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TMEM242,729515,6,157743866,157743867,Intron,INS,-,TT,,5,31,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,FAM3C,10447,7,120991166,120991167,Intron,INS,-,A,,3,13,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,R3HCC1,203069,8,23152431,23152436,Intron,DEL,CGAGCA,-,,7,333,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,FAM208B,54906,10,5784147,5784148,Frame_Shift_Ins,INS,-,ACATG,c.(2416-2418)aaafs,3,87,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,KIF11,3832,10,94410125,94410125,Intron,DEL,G,-,,5,33,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,C11orf80,79703,11,66515816,66515817,Intron,INS,-,G,,6,7,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,ZCRB1,85437,12,42711542,42711543,Intron,DEL,CA,-,,4,14,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,MDGA2,161357,14,47351237,47351238,Intron,INS,-,A,,4,20,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,GPHN,10243,14,67646295,67646299,Splice_Site,DEL,TTATC,-,c.(1981-1986)ttatca>a,4,138,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,NRXN3,9369,14,80271409,80271410,Intron,INS,-,CTC,,2,21,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TDP1,55775,14,90509654,90509655,3'UTR,INS,-,G,,1,11,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,UBR1,197131,15,43322111,43322112,Intron,INS,-,C,,8,36,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,SLTM,79811,15,59209242,59209243,Intron,INS,-,CAGG,,3,15,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TLN2,83660,15,62993254,62993254,Intron,DEL,C,-,,27,83,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,WDR7,23335,18,54362209,54362210,Frame_Shift_Del,DEL,GC,-,c.(1135-1140)ttgcaafs,5,10,,
RP-1532_PCProject_0557_T2_v3_Exome_OnPrem,TSPAN6,7105,X,99888945,99888945,Frame_Shift_Del,DEL,C,-,c.(433-435)gacfs,5,27,,
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,AGRN,375790,1,979375,979375,Silent,SNP,G,A,c.(1969-1971)gaG>gaA,6,499,0,334
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,TNFRSF18,8784,1,1139603,1139603,Missense_Mutation,SNP,C,A,c.(412-414)Ggg>Tgg,5,213,0,132
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,SDF4,51150,1,1153981,1153981,Nonsense_Mutation,SNP,C,A,c.(769-771)Gag>Tag,5,311,0,135
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,C1orf233,643988,1,1534933,1534933,Missense_Mutation,SNP,C,T,c.(463-465)Gct>Act,6,296,0,199
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PRDM16,63976,1,3342181,3342181,Silent,SNP,G,A,c.(2974-2976)tcG>tcA,6,225,0,120
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,LRRC47,57470,1,3697858,3697858,Nonsense_Mutation,SNP,C,A,c.(1546-1548)Gaa>Taa,7,398,0,175
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,FBXO6,26270,1,11728960,11728960,Missense_Mutation,SNP,G,A,c.(244-246)cGg>cAg,5,256,0,139
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,SPEN,23013,1,16262096,16262096,Missense_Mutation,SNP,C,T,c.(9361-9363)Cgg>Tgg,5,174,0,91
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ARHGEF19,128272,1,16534697,16534697,Missense_Mutation,SNP,G,A,c.(436-438)Cgt>Tgt,6,226,0,132
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ECE1,1889,1,21582559,21582559,Missense_Mutation,SNP,G,A,c.(901-903)Cgg>Tgg,4,119,0,76
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZMYM6NB,100506144,1,35447721,35447721,Splice_Site,SNP,C,A,c.e3-1,5,146,0,55
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,AGO1,26523,1,36379442,36379442,Splice_Site,SNP,G,T,c.e13-1,5,157,0,63
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,STK40,83931,1,36807545,36807545,Silent,SNP,G,A,c.(1117-1119)taC>taT,6,315,0,171
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,DMAP1,55929,1,44685836,44685836,Missense_Mutation,SNP,G,A,c.(1198-1200)cGg>cAg,5,302,0,155
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,AMPD2,271,1,110171392,110171392,Missense_Mutation,SNP,C,A,c.(1696-1698)cCc>cAc,5,244,0,100
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CCT3,7203,1,156302998,156302998,Intron,SNP,C,G,,4,22,0,9
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ARHGEF11,9826,1,156917099,156917099,Missense_Mutation,SNP,G,T,c.(2365-2367)Cac>Aac,5,115,0,24
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,FCRL2,79368,1,157737362,157737362,Intron,SNP,C,A,,8,266,0,102
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GPR161,23432,1,168065945,168065945,Silent,SNP,G,A,c.(898-900)tcC>tcT,5,215,0,82
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PRRC2C,23215,1,171509721,171509721,Missense_Mutation,SNP,A,C,c.(3109-3111)gAa>gCa,7,540,1,200
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CACNA1E,777,1,181754956,181754956,Splice_Site,SNP,G,A,c.e43+1,5,175,0,53
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,KIF21B,23046,1,200968526,200968526,Silent,SNP,C,A,c.(1834-1836)tcG>tcT,6,488,0,201
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,NAV1,89796,1,201687796,201687796,Nonsense_Mutation,SNP,C,A,c.(1138-1140)tCg>tAg,6,481,0,126
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,HLX,3142,1,221053738,221053738,Missense_Mutation,SNP,G,A,c.(538-540)cGc>cAc,9,542,0,203
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,NVL,4931,1,224500827,224500827,Intron,SNP,C,A,,6,314,1,72
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,OBSCN,84033,1,228509580,228509580,Missense_Mutation,SNP,G,A,c.(15037-15039)cGg>cAg,4,175,0,118
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,TMEM78,677790,1,229385643,229385643,Missense_Mutation,SNP,T,C,c.(202-204)Ttt>Ctt,4,118,0,58
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,MTR,4548,1,236966835,236966835,Missense_Mutation,SNP,G,A,c.(142-144)Gaa>Aaa,8,914,1,344
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,TPO,7173,2,1546297,1546297,3'UTR,SNP,G,A,,6,300,0,135
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,IAH1,285148,2,9616148,9616148,Silent,SNP,G,A,c.(112-114)tcG>tcA,8,620,0,151
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,EFR3B,22979,2,25360212,25360212,Silent,SNP,C,T,c.(1561-1563)caC>caT,6,160,0,79
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,POMC,5443,2,25384102,25384102,Nonsense_Mutation,SNP,C,A,c.(652-654)Gag>Tag,5,214,0,94
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GPR113,165082,2,26533685,26533685,Missense_Mutation,SNP,C,A,c.(2911-2913)Gtg>Ttg,7,323,0,128
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,KCNK3,3777,2,26950871,26950871,Missense_Mutation,SNP,C,T,c.(619-621)gCg>gTg,7,573,0,234
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PSME4,23198,2,54155444,54155444,Intron,SNP,C,A,,6,116,0,62
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,TTL,150465,2,113277966,113277966,Missense_Mutation,SNP,G,T,c.(982-984)tGg>tTg,5,303,0,124
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,FAM168B,130074,2,131805769,131805769,3'UTR,SNP,C,T,,4,136,1,76
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ABCA12,26154,2,215802265,215802265,Missense_Mutation,SNP,A,G,c.(7510-7512)aTg>aCg,62,230,0,98
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ITPR1,3708,3,4856256,4856256,Intron,SNP,T,C,,12,115,1,37
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,FBLN2,2199,3,13612859,13612859,Missense_Mutation,SNP,G,T,c.(1003-1005)aGg>aTg,184,657,0,353
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,COL6A4P1,344875,3,15219616,15219616,RNA,SNP,C,A,,6,455,0,143
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZNF385D,79750,3,21606169,21606169,Missense_Mutation,SNP,G,A,c.(172-174)cCg>cTg,4,137,0,49
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PRSS42,339906,3,46875043,46875043,Missense_Mutation,SNP,G,T,c.(337-339)aCg>aAg,7,408,0,140
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,NCKIPSD,51517,3,48718816,48718816,Silent,SNP,C,T,c.(994-996)cgG>cgA,4,138,0,58
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CDHR4,389118,3,49832788,49832788,Missense_Mutation,SNP,G,A,c.(871-873)aCg>aTg,6,252,0,95
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GNAT1,2779,3,50232223,50232223,Silent,SNP,C,A,c.(886-888)ggC>ggA,6,493,0,272
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,NISCH,11188,3,52521717,52521717,Missense_Mutation,SNP,G,A,c.(2209-2211)Gca>Aca,7,476,0,192
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,NT5DC2,64943,3,52558970,52558970,Intron,SNP,G,A,,5,296,0,113
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CADPS,8618,3,62860447,62860447,Silent,SNP,G,A,c.(256-258)ggC>ggT,6,347,0,145
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,UBA5,79876,3,132379530,132379530,Missense_Mutation,SNP,C,T,c.(148-150)tCg>tTg,39,99,0,80
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,EPHB1,2047,3,134825295,134825295,Missense_Mutation,SNP,C,T,c.(811-813)Cct>Tct,5,294,0,109
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PLSCR4,57088,3,145938673,145938673,Missense_Mutation,SNP,A,G,c.(46-48)aTg>aCg,7,261,0,71
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,TSC22D2,9819,3,150128509,150128509,Missense_Mutation,SNP,C,T,c.(1372-1374)Ccc>Tcc,5,251,0,108
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZNF595,152687,4,86054,86054,3'UTR,SNP,G,A,,4,98,0,64
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,MAN2B2,23324,4,6600016,6600016,Missense_Mutation,SNP,G,A,c.(1339-1341)cGc>cAc,7,490,0,175
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,WDFY3,23001,4,85731482,85731482,Missense_Mutation,SNP,G,A,c.(1903-1905)Ctt>Ttt,4,94,0,51
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,RP11-766F14.2,0,4,100571221,100571221,Nonsense_Mutation,SNP,G,A,c.(4585-4587)Cga>Tga,5,324,0,96
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PPP3CA,5530,4,101947137,101947137,Missense_Mutation,SNP,G,A,c.(1450-1452)cCg>cTg,26,591,0,115
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,MANBA,4126,4,103556002,103556002,Silent,SNP,G,A,c.(2356-2358)aaC>aaT,180,673,0,227
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PLEKHG4B,153478,5,182371,182371,Missense_Mutation,SNP,C,T,c.(3748-3750)aCg>aTg,13,404,0,180
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,DNAJC21,134218,5,34939068,34939068,Silent,SNP,G,A,c.(847-849)tcG>tcA,6,491,0,113
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,NUP155,9631,5,37314436,37314436,Intron,SNP,G,C,,55,243,0,122
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CKMT2,1160,5,80548610,80548610,Missense_Mutation,SNP,C,A,c.(247-249)aaC>aaA,9,1019,0,339
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PHF15,0,5,133901988,133901988,Silent,SNP,C,T,c.(1150-1152)ggC>ggT,6,430,0,189
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,HARS,3035,5,140056366,140056366,Missense_Mutation,SNP,C,A,c.(1066-1068)aGt>aTt,9,607,0,190
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PCDHGA8,9708,5,140773757,140773757,Silent,SNP,G,A,c.(1375-1377)gcG>gcA,6,385,0,124
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PCDHGB6,56100,5,140789992,140789992,Silent,SNP,C,A,c.(2221-2223)ccC>ccA,6,220,1,113
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,LARS,51520,5,145537185,145537185,Silent,SNP,C,G,c.(844-846)ctG>ctC,4,206,0,120
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PRELID1,27166,5,176731021,176731021,Missense_Mutation,SNP,G,A,c.(34-36)cGg>cAg,6,472,0,125
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,SLC34A1,6569,5,176825151,176825151,Missense_Mutation,SNP,G,A,c.(1783-1785)cGc>cAc,21,48,0,47
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GCM2,9247,6,10881973,10881973,Missense_Mutation,SNP,C,A,c.(52-54)caG>caT,8,876,0,327
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,DPCR1,135656,6,30918451,30918451,Missense_Mutation,SNP,C,A,c.(2209-2211)cCa>cAa,9,1040,0,369
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,DDAH2,23564,6,31692760,31692760,IGR,SNP,C,T,,6,365,0,120
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GRM4,2914,6,34101166,34101166,Silent,SNP,G,T,c.(106-108)ggC>ggA,5,241,0,115
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,TCP11,6954,6,35088088,35088088,Missense_Mutation,SNP,C,A,c.(961-963)caG>caT,6,243,0,82
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GLP1R,2740,6,39016661,39016661,Silent,SNP,C,A,c.(43-45)ctC>ctA,4,139,0,72
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ARMC2,84071,6,109190125,109190125,Silent,SNP,C,T,c.(388-390)aaC>aaT,7,450,0,147
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,SYNE1,23345,6,152676063,152676063,Silent,SNP,G,A,c.(10657-10659)Ctg>Ttg,5,296,0,124
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,SYNJ2,8871,6,158507930,158507930,Silent,SNP,C,T,c.(3250-3252)gtC>gtT,84,242,0,121
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,TULP4,56995,6,158923073,158923073,Missense_Mutation,SNP,G,A,c.(2377-2379)cGa>cAa,4,96,0,46
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,TBP,6908,6,170871073,170871073,Silent,SNP,G,A,c.(247-249)caG>caA,12,1295,1,465
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,SDK1,221935,7,4153677,4153677,Silent,SNP,G,T,c.(3592-3594)ccG>ccT,5,234,0,95
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,TNRC18,84629,7,5428513,5428513,Silent,SNP,G,A,c.(940-942)ggC>ggT,5,218,0,113
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,HOXA9,3205,7,27204521,27204521,Missense_Mutation,SNP,C,T,c.(556-558)Gga>Aga,4,147,0,41
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,AOAH,313,7,36655999,36655999,Nonsense_Mutation,SNP,G,T,c.(832-834)tCg>tAg,7,465,0,111
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,COA1,55744,7,43687110,43687110,Intron,SNP,G,A,,8,392,0,90
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,NPC1L1,29881,7,44579884,44579884,Nonsense_Mutation,SNP,C,A,c.(112-114)Gaa>Taa,10,619,0,211
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,POM121L12,285877,7,53103605,53103605,Missense_Mutation,SNP,C,T,c.(241-243)Cgg>Tgg,8,373,0,172
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZNF716,441234,7,57529068,57529068,Missense_Mutation,SNP,T,C,c.(901-903)Tgt>Cgt,6,381,1,170
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,DLX6,1750,7,96635438,96635438,Missense_Mutation,SNP,C,A,c.(148-150)cCg>cAg,7,630,0,244
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZAN,7455,7,100350352,100350352,RNA,SNP,C,T,,81,328,0,186
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,TRIM56,81844,7,100730739,100730739,Missense_Mutation,SNP,C,T,c.(145-147)gCg>gTg,6,574,0,205
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,SH2B2,10603,7,101943918,101943918,Missense_Mutation,SNP,G,T,c.(211-213)gaG>gaT,6,348,0,165
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,TMEM229A,730130,7,123672250,123672250,Missense_Mutation,SNP,C,A,c.(808-810)Ggg>Tgg,7,591,0,186
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,KRBA1,84626,7,149420968,149420968,Missense_Mutation,SNP,A,G,c.(916-918)Agg>Ggg,5,278,0,117
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CCAR2,57805,8,22476741,22476741,Missense_Mutation,SNP,G,T,c.(2599-2601)cGg>cTg,6,416,0,217
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,FUT10,84750,8,33310719,33310719,Intron,SNP,G,A,,4,96,0,46
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,BAI1,575,8,143618382,143618382,Missense_Mutation,SNP,G,A,c.(3604-3606)cGg>cAg,4,119,0,43
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,EPPK1,83481,8,144946945,144946945,Silent,SNP,G,T,c.(475-477)ggC>ggA,5,102,0,42
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PARP10,84875,8,145057220,145057220,Silent,SNP,C,A,c.(2434-2436)acG>acT,6,357,0,134
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZNF251,90987,8,145948191,145948191,Missense_Mutation,SNP,C,A,c.(853-855)aGa>aTa,6,203,0,77
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GLDC,2731,9,6602141,6602141,Missense_Mutation,SNP,C,T,c.(1123-1125)Gac>Aac,9,495,0,200
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,NFX1,4799,9,33338531,33338531,Missense_Mutation,SNP,C,T,c.(2059-2061)Cgg>Tgg,5,267,1,66
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CTSV,1515,9,99799030,99799030,Splice_Site,SNP,C,A,c.e5-1,5,85,0,53
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,NCBP1,4686,9,100421020,100421020,Missense_Mutation,SNP,G,A,c.(1471-1473)aGt>aAt,7,361,0,118
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ACTL7B,10880,9,111618052,111618052,Silent,SNP,G,T,c.(157-159)atC>atA,5,163,0,82
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,FKBP15,23307,9,115938912,115938912,Missense_Mutation,SNP,T,C,c.(2128-2130)Agt>Ggt,20,369,1,127
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,DFNB31,25861,9,117188547,117188547,Silent,SNP,G,A,c.(1108-1110)gaC>gaT,8,898,1,335
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GPR144,347088,9,127220409,127220409,Missense_Mutation,SNP,G,A,c.(1579-1581)Gtg>Atg,5,242,0,95
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,C9orf117,286207,9,130473750,130473750,Missense_Mutation,SNP,C,A,c.(829-831)gCc>gAc,6,268,0,150
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PTRH1,138428,9,130477794,130477794,Intron,SNP,C,A,,6,308,0,136
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CARD9,64170,9,139258574,139258574,3'UTR,SNP,C,A,,6,473,0,207
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,KIAA1462,57608,10,30317522,30317522,Missense_Mutation,SNP,G,A,c.(1555-1557)Cgc>Tgc,6,135,0,61
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,FZD8,8325,10,35929963,35929963,Missense_Mutation,SNP,C,A,c.(394-396)cGc>cTc,5,314,1,197
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,C10orf128,170371,10,50374911,50374911,Intron,SNP,C,A,,7,597,0,273
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZFYVE27,118813,10,99510129,99510129,Missense_Mutation,SNP,C,A,c.(706-708)Cca>Aca,7,500,0,237
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,NEURL,0,10,105331566,105331566,Silent,SNP,C,A,c.(634-636)ggC>ggA,4,60,0,43
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,B4GALNT4,338707,11,376665,376665,Silent,SNP,G,A,c.(1540-1542)ccG>ccA,4,106,0,57
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PIDD,0,11,801809,801809,Intron,SNP,G,A,,6,189,0,74
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,MRPL23,6150,11,1972186,1972186,Missense_Mutation,SNP,C,A,c.(73-75)ttC>ttA,7,537,0,209
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,NELL1,4745,11,21135166,21135166,Nonsense_Mutation,SNP,C,A,c.(1330-1332)taC>taA,52,198,0,91
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,RCN1,5954,11,32125983,32125983,Missense_Mutation,SNP,G,A,c.(961-963)Ggg>Agg,5,256,0,96
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,VPS37C,55048,11,60906278,60906278,Silent,SNP,G,A,c.(22-24)acC>acT,6,596,0,188
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,DAGLA,747,11,61503043,61503043,Missense_Mutation,SNP,C,T,c.(1138-1140)aCg>aTg,5,195,0,94
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,VSTM5,387804,11,93554476,93554476,Silent,SNP,G,A,c.(103-105)tcC>tcT,4,99,1,74
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CEP164,22897,11,117266278,117266278,Missense_Mutation,SNP,C,T,c.(2929-2931)Cat>Tat,5,124,0,56
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,FXYD2,486,11,117698729,117698729,5'UTR,SNP,G,T,,8,533,0,227
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,BARX2,8538,11,129245975,129245975,Silent,SNP,C,A,c.(43-45)ctC>ctA,9,503,0,138
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,JAM3,83700,11,134014162,134014162,Missense_Mutation,SNP,C,A,c.(283-285)Ctg>Atg,8,845,0,280
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,JAM3,83700,11,134014229,134014229,Missense_Mutation,SNP,T,C,c.(349-351)gTc>gCc,11,1288,0,381
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PZP,5858,12,9305913,9305913,Silent,SNP,C,T,c.(3799-3801)ctG>ctA,76,294,0,92
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,DDX11,1663,12,31249918,31249918,Missense_Mutation,SNP,C,A,c.(1756-1758)Cgc>Agc,8,618,1,273
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,KMT2D,8085,12,49431831,49431831,Missense_Mutation,SNP,G,A,c.(9307-9309)gCt>gTt,63,198,0,148
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,KRT2,3849,12,53045436,53045436,Missense_Mutation,SNP,T,C,c.(490-492)aAc>aGc,235,715,0,313
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,DYRK2,8445,12,68051853,68051853,Missense_Mutation,SNP,G,A,c.(1165-1167)cGg>cAg,7,916,0,234
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,VEZT,55591,12,95694094,95694094,Missense_Mutation,SNP,A,C,c.(1984-1986)gAg>gCg,69,212,0,81
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CCDC53,51019,12,102444396,102444396,Intron,SNP,C,A,,7,542,1,125
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,BTBD11,121551,12,108006551,108006551,Intron,SNP,C,T,,6,267,0,72
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PXN,5829,12,120650117,120650117,Nonstop_Mutation,SNP,C,A,c.(1774-1776)taG>taT,5,147,0,71
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,DNAH10,196385,12,124337760,124337760,Missense_Mutation,SNP,C,A,c.(5944-5946)gCg>gAg,5,212,0,73
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,DDX51,317781,12,132624733,132624733,Missense_Mutation,SNP,G,A,c.(1684-1686)aCg>aTg,43,163,0,73
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,POLE,5426,12,133202781,133202781,Silent,SNP,G,A,c.(6451-6453)taC>taT,8,770,0,286
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,RGCC,28984,13,42031861,42031861,Silent,SNP,G,A,c.(16-18)gcG>gcA,5,196,0,112
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,G2E3,55632,14,31055968,31055968,Missense_Mutation,SNP,G,A,c.(82-84)Gga>Aga,5,151,0,59
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,STYX,6815,14,53235609,53235609,Missense_Mutation,SNP,C,T,c.(556-558)Ctc>Ttc,23,206,0,52
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,LRRC9,341883,14,60464477,60464477,Missense_Mutation,SNP,T,G,c.(2314-2316)cTg>cGg,70,149,0,80
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ALDH6A1,4329,14,74535569,74535569,Silent,SNP,G,T,c.(844-846)gcC>gcA,8,432,1,122
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CPSF2,53981,14,92588093,92588093,5'Flank,SNP,G,T,,9,938,0,247
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PAPOLA,10914,14,97031384,97031384,Silent,SNP,G,A,c.(2233-2235)cgG>cgA,5,183,0,54
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,EXOC3L4,91828,14,103576752,103576752,IGR,SNP,C,A,,7,398,0,119
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,XRCC3,7517,14,104177397,104177397,Missense_Mutation,SNP,G,T,c.(28-30)Ccc>Acc,141,625,0,213
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,AHNAK2,113146,14,105416027,105416027,Missense_Mutation,SNP,G,T,c.(5761-5763)Ctc>Atc,7,513,0,250
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,JAG2,3714,14,105609430,105609430,Missense_Mutation,SNP,G,A,c.(3319-3321)Cgc>Tgc,9,867,0,385
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CYFIP1,23191,15,22928132,22928132,Nonsense_Mutation,SNP,G,T,c.(211-213)Gag>Tag,5,247,0,95
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ATP10A,57194,15,25926141,25926141,Splice_Site,SNP,C,A,c.(3571-3573)ctG>ctT,6,536,0,225
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,FAM189A1,23359,15,29418662,29418662,Missense_Mutation,SNP,C,T,c.(1036-1038)Gag>Aag,41,218,0,124
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,KATNBL1,79768,15,34445073,34445073,Missense_Mutation,SNP,C,T,c.(355-357)cGa>cAa,6,310,0,166
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ANKDD1A,348094,15,65209683,65209683,Silent,SNP,G,A,c.(235-237)gcG>gcA,5,312,0,84
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ULK3,25989,15,75131954,75131954,Missense_Mutation,SNP,G,A,c.(796-798)gCg>gTg,7,434,0,173
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,KLHL25,64410,15,86311694,86311694,Missense_Mutation,SNP,C,T,c.(1348-1350)Gga>Aga,5,248,0,105
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,KIF7,374654,15,90193240,90193240,Intron,SNP,G,A,,6,305,0,150
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,IGF1R,3480,15,99442758,99442758,Silent,SNP,G,A,c.(1153-1155)acG>acA,8,1058,0,292
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,LRRK1,79705,15,101598278,101598278,Missense_Mutation,SNP,G,T,c.(4609-4611)caG>caT,96,354,0,143
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,NPRL3,8131,16,180551,180551,Missense_Mutation,SNP,T,C,c.(157-159)gAc>gGc,7,494,0,147
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,HBM,3042,16,216615,216615,Missense_Mutation,SNP,C,A,c.(334-336)Cac>Aac,9,873,1,418
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,LMF1,64788,16,905700,905700,Intron,SNP,G,A,,6,290,0,165
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,DNASE1L2,1775,16,2287395,2287395,Silent,SNP,C,A,c.(334-336)gtC>gtA,6,554,0,231
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ROGDI,79641,16,4847790,4847790,Silent,SNP,G,A,c.(745-747)tgC>tgT,6,456,0,115
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,APOBR,55911,16,28511191,28511191,IGR,SNP,C,T,,5,248,0,105
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ARMC5,79798,16,31470937,31470937,Missense_Mutation,SNP,A,G,c.(91-93)aAg>aGg,5,283,0,145
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,LONP2,83752,16,48385511,48385511,Missense_Mutation,SNP,A,G,c.(2356-2358)aAa>aGa,5,254,0,83
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CCDC135,0,16,57760174,57760174,Silent,SNP,C,A,c.(1951-1953)ccC>ccA,6,245,0,114
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CDH8,1006,16,61687911,61687911,Silent,SNP,G,A,c.(1999-2001)taC>taT,6,461,0,201
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GFOD2,81577,16,67719522,67719522,Missense_Mutation,SNP,G,T,c.(97-99)Ctg>Atg,7,534,0,171
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZFHX3,463,16,72821531,72821531,Silent,SNP,G,C,c.(10642-10644)ctC>ctG,23,573,0,195
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,FA2H,79152,16,74750438,74750438,Silent,SNP,G,A,c.(844-846)ggC>ggT,5,229,0,128
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GSE1,23199,16,85688413,85688413,Missense_Mutation,SNP,G,A,c.(613-615)Gtg>Atg,5,285,0,126
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ANKRD11,29123,16,89357538,89357538,Missense_Mutation,SNP,C,A,c.(280-282)Gcc>Tcc,9,678,0,262
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CPNE7,27132,16,89643986,89643986,Missense_Mutation,SNP,G,A,c.(214-216)Gtg>Atg,7,321,1,114
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,VPS9D1,9605,16,89784200,89784200,Intron,SNP,C,A,,5,158,0,69
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,RTN4RL1,146760,17,1840732,1840732,Silent,SNP,G,A,c.(382-384)caC>caT,5,285,0,117
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,SLC25A11,8402,17,4842446,4842446,Missense_Mutation,SNP,C,T,c.(157-159)Ggg>Agg,50,195,0,106
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,RASL10B,91608,17,34067517,34067517,Nonsense_Mutation,SNP,C,A,c.(304-306)taC>taA,5,299,0,130
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GAS2L2,246176,17,34077277,34077277,Missense_Mutation,SNP,A,C,c.(445-447)cTg>cGg,70,199,0,155
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,LRRC3C,100505591,17,38100945,38100945,Silent,SNP,C,A,c.(784-786)ccC>ccA,6,564,0,189
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PTGES3L,100885848,17,41123638,41123638,Missense_Mutation,SNP,C,T,c.(394-396)Gaa>Aaa,70,334,0,115
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,Unknown,0,17,41455066,41455066,IGR,SNP,A,G,,157,600,0,260
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,C17orf104,284071,17,42744673,42744673,Missense_Mutation,SNP,C,A,c.(1393-1395)gCa>gAa,5,94,0,48
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,TBX2,6909,17,59482273,59482273,Intron,SNP,C,A,,8,730,0,287
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,NOL11,25926,17,65720187,65720187,Missense_Mutation,SNP,T,A,c.(541-543)gTg>gAg,28,59,0,27
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CDK3,1018,17,73998613,73998613,Missense_Mutation,SNP,G,A,c.(508-510)Gcc>Acc,6,553,0,173
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,BAIAP2,10458,17,79077379,79077379,Silent,SNP,G,A,c.(718-720)gcG>gcA,6,405,0,186
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,FOXK2,3607,17,80478063,80478063,Missense_Mutation,SNP,C,A,c.(298-300)cCc>cAc,5,100,0,53
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,B3GNTL1,146712,17,80904778,80904778,3'UTR,SNP,G,A,,8,444,0,149
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,DLGAP1,9229,18,3880072,3880072,5'UTR,SNP,G,A,,6,299,0,130
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,DTNA,1837,18,32459615,32459615,Silent,SNP,G,A,c.(2011-2013)gcG>gcA,6,343,1,178
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZBTB7C,201501,18,45566798,45566798,Silent,SNP,G,A,c.(679-681)atC>atT,4,55,0,39
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,SALL3,27164,18,76756921,76756921,Missense_Mutation,SNP,G,T,c.(3502-3504)Gcc>Tcc,4,79,0,77
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GRIN3B,116444,19,1005162,1005162,Silent,SNP,C,A,c.(1660-1662)ggC>ggA,6,367,0,189
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GRIN3B,116444,19,1009449,1009449,Missense_Mutation,SNP,C,T,c.(2980-2982)Cgt>Tgt,6,406,0,174
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,C19orf25,148223,19,1475141,1475141,Missense_Mutation,SNP,G,T,c.(247-249)Ctg>Atg,7,612,0,288
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CSNK1G2,1455,19,1978520,1978520,Intron,SNP,G,A,,5,326,0,140
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,MKNK2,2872,19,2041057,2041057,Missense_Mutation,SNP,C,A,c.(1090-1092)caG>caT,7,454,0,135
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,KDM4B,23030,19,5133949,5133949,Silent,SNP,G,A,c.(1960-1962)ccG>ccA,7,507,0,203
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PDE4A,5141,19,10574637,10574637,Missense_Mutation,SNP,G,A,c.(1912-1914)Gtg>Atg,7,482,0,172
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,SMARCA4,6597,19,11096968,11096968,Silent,SNP,G,A,c.(457-459)ccG>ccA,5,202,0,123
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,RFX1,5989,19,14080880,14080880,Silent,SNP,G,A,c.(1420-1422)ccC>ccT,5,320,0,110
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CPAMD8,27151,19,17036131,17036131,Missense_Mutation,SNP,G,A,c.(3562-3564)cCg>cTg,6,356,0,126
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,MYO9B,4650,19,17317185,17317185,Splice_Site,SNP,G,A,c.(5386-5388)Gag>Aag,5,198,0,100
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,OCEL1,79629,19,17339106,17339106,Missense_Mutation,SNP,G,C,c.(658-660)gaG>gaC,17,310,0,111
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,FAM129C,199786,19,17638133,17638133,Missense_Mutation,SNP,C,T,c.(76-78)cCg>cTg,5,253,0,103
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,FCHO1,23149,19,17877584,17877584,Missense_Mutation,SNP,C,A,c.(301-303)Cgc>Agc,58,242,0,107
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PIK3R2,5296,19,18277971,18277971,Missense_Mutation,SNP,C,T,c.(1591-1593)Cgc>Tgc,5,198,0,74
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GATAD2A,54815,19,19605120,19605120,Silent,SNP,G,T,c.(550-552)ggG>ggT,6,289,0,98
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZNF93,81931,19,20044933,20044933,Missense_Mutation,SNP,T,G,c.(1168-1170)gTt>gGt,4,174,0,107
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZNF708,7562,19,21476574,21476574,Silent,SNP,A,G,c.(1192-1194)ggT>ggC,6,286,0,154
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZNF99,7652,19,22940064,22940064,IGR,SNP,T,C,,5,314,0,182
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZNF99,7652,19,22940178,22940178,Missense_Mutation,SNP,C,T,c.(2533-2535)Gca>Aca,7,262,0,157
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZNF99,7652,19,22940860,22940860,Silent,SNP,T,C,c.(1849-1851)ggA>ggG,6,254,1,257
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZNF91,7644,19,23544070,23544070,Missense_Mutation,SNP,T,C,c.(1711-1713)Aag>Gag,6,229,0,110
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZNF792,126375,19,35450457,35450457,Missense_Mutation,SNP,T,C,c.(301-303)gAg>gGg,4,33,0,25
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZNF850,342892,19,37240174,37240174,Missense_Mutation,SNP,G,C,c.(1768-1770)Cac>Gac,5,310,0,117
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,SELV,0,19,40006269,40006269,Silent,SNP,C,A,c.(415-417)ccC>ccA,5,312,0,199
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CEACAM4,1089,19,42133263,42133263,Intron,SNP,C,A,,6,112,0,69
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZNF526,116115,19,42730569,42730569,3'UTR,SNP,C,A,,8,848,0,316
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PPP1R37,284352,19,45648950,45648950,Missense_Mutation,SNP,C,A,c.(1636-1638)Cca>Aca,4,95,0,75
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GIPR,2696,19,46185013,46185013,Missense_Mutation,SNP,G,C,c.(1219-1221)tgG>tgC,124,478,1,331
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,HIF3A,64344,19,46808626,46808626,Missense_Mutation,SNP,C,A,c.(340-342)agC>agA,6,353,0,116
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,NTN5,126147,19,49173649,49173649,Missense_Mutation,SNP,G,A,c.(595-597)Cgg>Tgg,5,15,0,21
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,TSKS,60385,19,50247632,50247632,Missense_Mutation,SNP,G,A,c.(1216-1218)tCa>tTa,5,186,0,74
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZNF865,100507290,19,56125293,56125293,Silent,SNP,C,T,c.(307-309)tcC>tcT,7,301,0,156
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZNF343,79175,20,2464234,2464234,Missense_Mutation,SNP,G,A,c.(1372-1374)aCg>aTg,8,813,0,251
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,EBF4,57593,20,2732626,2732626,Missense_Mutation,SNP,G,A,c.(1165-1167)aGt>aAt,6,291,0,156
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,LZTS3,0,20,3146232,3146232,Missense_Mutation,SNP,G,A,c.(1234-1236)Cgg>Tgg,5,234,0,118
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ADRA1D,146,20,4202406,4202406,Missense_Mutation,SNP,G,A,c.(1483-1485)Cgc>Tgc,72,198,0,156
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,TMEM230,29058,20,5081567,5081567,Missense_Mutation,SNP,C,A,c.(232-234)cGg>cTg,6,373,0,86
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,TM9SF4,9777,20,30738598,30738598,Intron,SNP,C,A,,6,445,1,191
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,EPB41L1,2036,20,34807680,34807680,Intron,SNP,C,G,,22,624,1,245
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,SEMG2,6407,20,43851299,43851299,Silent,SNP,G,A,c.(1024-1026)aaG>aaA,5,239,0,108
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ATP9A,10079,20,50221503,50221503,Missense_Mutation,SNP,C,T,c.(2860-2862)Gtg>Atg,5,198,0,71
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ZNF831,128611,20,57766489,57766489,Missense_Mutation,SNP,C,T,c.(415-417)Cgg>Tgg,5,215,0,98
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,LAMA5,3911,20,60885312,60885312,Silent,SNP,C,A,c.(10654-10656)ctG>ctT,6,222,1,116
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,RTEL1,51750,20,62321525,62321525,Silent,SNP,C,A,c.(2227-2229)Cga>Aga,6,357,0,136
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,C20orf201,0,20,62715299,62715299,Missense_Mutation,SNP,C,A,c.(274-276)Gac>Tac,5,206,0,124
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ADORA2A,135,22,24829532,24829532,Missense_Mutation,SNP,G,A,c.(160-162)Gca>Aca,6,504,1,194
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,CTA-292E10.6,0,22,29240419,29240419,RNA,SNP,A,G,,6,94,0,35
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GK,2710,X,30739108,30739108,Silent,SNP,G,A,c.(1477-1479)gcG>gcA,6,530,0,134
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,KDM6A,7403,X,44929390,44929390,Silent,SNP,A,C,c.(2488-2490)ccA>ccC,121,111,0,59
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,HSD17B10,3028,X,53459034,53459034,Missense_Mutation,SNP,G,A,c.(388-390)Cgc>Tgc,8,647,0,176
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PHF8,23133,X,53970643,53970643,Missense_Mutation,SNP,C,T,c.(2680-2682)cGt>cAt,5,280,0,81
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,GPR112,139378,X,135480103,135480103,Missense_Mutation,SNP,G,A,c.(8248-8250)Gga>Aga,5,173,0,62
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,PRKY,5616,Y,7142503,7142503,RNA,SNP,C,A,,4,89,0,35
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ANKRD37,353322,4,186320892,186320923,Frame_Shift_Del,DEL,AAGTGTAGAAAATACCAGTGGGAAAAGGAAGT,-,c.(439-474)ggaagtgtagaaaataccagtgggaaaaggaagtgcfs,10,279,,
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,Unknown,0,6,132594232,132594232,IGR,DEL,A,-,,37,45,,
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,KDELR2,11014,7,6502631,6502631,3'UTR,DEL,T,-,,74,206,,
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,MUC5AC,4586,11,1151714,1151717,Intron,DEL,CTGG,-,,48,203,,
RP-1532_PCProject_0575_T1_v4_Exome_OnPrem,ATRX,546,X,76949319,76949320,Frame_Shift_Ins,INS,-,T,c.(475-480)aaacgcfs,90,141,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CCNL2,81669,1,1324043,1324043,Intron,SNP,T,C,,8,85,0,29
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CCNL2,81669,1,1324123,1324123,Intron,SNP,G,C,,9,57,0,21
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DFFB,1677,1,3777052,3777052,Intron,SNP,T,C,,14,218,0,88
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CAMTA1,23261,1,6931834,6931834,Intron,SNP,T,C,,9,115,0,151
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RBP7,116362,1,10067027,10067027,Intron,SNP,T,C,,15,299,0,75
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RBP7,116362,1,10067090,10067090,Intron,SNP,C,T,,8,83,0,39
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RBP7,116362,1,10067097,10067097,Intron,SNP,T,C,,6,73,0,38
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SPATA21,374955,1,16751610,16751610,Intron,SNP,T,C,,8,31,0,17
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PADI4,23569,1,17660831,17660831,Intron,SNP,C,T,,9,65,0,30
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PADI4,23569,1,17660854,17660854,Intron,SNP,A,G,,10,182,0,49
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PADI4,23569,1,17660958,17660958,Intron,SNP,T,C,,21,210,0,60
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PADI4,23569,1,17660959,17660959,Intron,SNP,G,A,,13,215,0,59
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PADI4,23569,1,17660989,17660989,Intron,SNP,A,G,,10,60,0,47
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,EXTL1,2134,1,26349620,26349620,Silent,SNP,C,A,c.(481-483)gtC>gtA,53,99,0,110
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RCC1,1104,1,28832807,28832807,Intron,SNP,G,C,,21,309,0,61
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DLGAP3,58512,1,35332774,35332774,Missense_Mutation,SNP,C,G,c.(2596-2598)Gtg>Ctg,39,168,0,273
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CLSPN,63967,1,36213546,36213546,Silent,SNP,T,C,c.(2587-2589)ttA>ttG,5,61,0,96
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TEKT2,27285,1,36551323,36551323,Intron,SNP,T,G,,5,35,0,54
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,EPHA10,284656,1,38227466,38227466,Missense_Mutation,SNP,G,A,c.(460-462)aCg>aTg,93,269,1,193
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PPIE,10450,1,40214693,40214693,Silent,SNP,T,A,c.(625-627)acT>acA,5,39,0,126
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KCNQ4,9132,1,41283874,41283874,Silent,SNP,C,T,c.(442-444)atC>atT,29,359,1,234
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KCNQ4,9132,1,41285899,41285899,Silent,SNP,G,A,c.(1006-1008)gaG>gaA,81,301,0,248
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,IPO13,9670,1,44422520,44422520,Silent,SNP,A,G,c.(1141-1143)gtA>gtG,9,80,0,141
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NASP,4678,1,46054340,46054340,Intron,SNP,G,A,,5,45,0,30
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CYB5RL,606495,1,54645685,54645685,Intron,SNP,A,G,,9,139,0,90
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,COL24A1,255631,1,86430720,86430720,Missense_Mutation,SNP,G,A,c.(2488-2490)gCa>gTa,7,88,0,97
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,COL24A1,255631,1,86430721,86430721,Missense_Mutation,SNP,C,G,c.(2488-2490)Gca>Cca,7,86,0,97
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TGFBR3,7049,1,92266548,92266548,Intron,SNP,A,G,,15,160,0,23
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TGFBR3,7049,1,92266601,92266601,Intron,SNP,T,C,,16,79,0,20
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GPSM2,29899,1,109466858,109466858,Intron,SNP,G,A,,7,83,0,181
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MRPS21,54460,1,150273641,150273641,Intron,SNP,G,A,,6,29,0,10
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MRPS21,54460,1,150273678,150273678,Intron,SNP,G,T,,12,125,0,24
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MRPS21,54460,1,150276536,150276536,Intron,SNP,T,C,,9,51,0,19
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UBAP2L,9898,1,154224088,154224088,Silent,SNP,T,C,c.(1621-1623)tcT>tcC,6,90,0,102
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZBTB7B,51043,1,154988145,154988145,Missense_Mutation,SNP,G,A,c.(1009-1011)Gtg>Atg,44,286,0,141
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RHBG,57127,1,156341044,156341044,Intron,SNP,A,G,,4,9,0,11
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RHBG,57127,1,156344434,156344434,Intron,SNP,A,G,,16,92,0,50
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RHBG,57127,1,156344439,156344439,Intron,SNP,A,G,,8,80,0,51
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RHBG,57127,1,156344455,156344455,Intron,SNP,A,G,,7,55,1,41
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BCAN,63827,1,156628491,156628491,Missense_Mutation,SNP,A,T,c.(2593-2595)gAg>gTg,102,170,0,148
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PRRX1,5396,1,170705240,170705240,Silent,SNP,C,T,c.(649-651)ggC>ggT,12,164,0,251
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RFWD2,64326,1,176069424,176069424,Intron,SNP,G,C,,22,181,0,45
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CEP350,9857,1,180042966,180042966,Intron,SNP,T,C,,8,151,0,136
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HMCN1,83872,1,186039791,186039791,Missense_Mutation,SNP,C,T,c.(8041-8043)Cct>Tct,27,39,0,115
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF281,23528,1,200376806,200376806,Silent,SNP,A,G,c.(2026-2028)ttT>ttC,5,56,0,88
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF281,23528,1,200376845,200376845,Silent,SNP,A,G,c.(1987-1989)agT>agC,6,32,0,67
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF281,23528,1,200376850,200376850,Missense_Mutation,SNP,C,T,c.(1984-1986)Gca>Aca,6,34,0,68
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NAV1,89796,1,201752780,201752780,Silent,SNP,G,C,c.(2602-2604)gtG>gtC,14,250,0,272
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NAV1,89796,1,201752786,201752786,Silent,SNP,A,G,c.(2608-2610)aaA>aaG,16,284,0,284
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TMCC2,9911,1,205211021,205211021,Missense_Mutation,SNP,G,A,c.(595-597)cGc>cAc,26,365,1,144
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MFSD4,148808,1,205555220,205555220,Missense_Mutation,SNP,A,G,c.(1033-1035)cAc>cGc,26,49,0,88
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FAIM3,9214,1,207094699,207094699,Intron,SNP,G,A,,9,112,0,41
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,Unknown,0,1,211832045,211832045,IGR,SNP,A,G,,10,141,1,47
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PPP2R5A,5525,1,212502573,212502573,Missense_Mutation,SNP,G,T,c.(277-279)aGc>aTc,8,66,0,46
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PPP2R5A,5525,1,212502592,212502592,Silent,SNP,A,G,c.(295-297)gcA>gcG,7,63,0,45
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,OBSCN,84033,1,228469713,228469713,Silent,SNP,G,T,c.(8275-8277)ctG>ctT,16,129,0,142
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HIST3H2A,92815,1,228645174,228645174,Silent,SNP,T,C,c.(343-345)gtA>gtG,67,463,0,212
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HIST3H2A,92815,1,228645201,228645201,Silent,SNP,A,G,c.(316-318)ggT>ggC,103,739,0,297
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HIST3H2A,92815,1,228645306,228645306,Silent,SNP,C,G,c.(211-213)gcG>gcC,40,558,0,245
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TAF5L,27097,1,229730578,229730578,Silent,SNP,T,A,c.(1234-1236)tcA>tcT,9,155,0,176
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DISC1,27185,1,231990557,231990557,Missense_Mutation,SNP,A,G,c.(2053-2055)gAg>gGg,7,48,0,27
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,B3GALNT2,148789,1,235659513,235659513,Intron,SNP,T,C,,8,28,0,12
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ERO1LB,56605,1,236388425,236388425,Missense_Mutation,SNP,T,A,c.(1066-1068)cAc>cTc,9,119,0,129
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ACP1,52,2,271877,271877,Silent,SNP,C,A,c.(55-57)Cga>Aga,36,38,0,76
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KCNF1,3754,2,11053744,11053744,Missense_Mutation,SNP,A,T,c.(1192-1194)Atc>Ttc,8,70,0,80
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TRIB2,28951,2,12858457,12858457,Silent,SNP,C,T,c.(22-24)ccC>ccT,5,47,0,79
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC30A6,55676,2,32402618,32402618,Intron,SNP,A,C,,5,39,0,17
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GEMIN6,79833,2,39006489,39006489,Intron,SNP,T,C,,27,156,0,35
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,THADA,63892,2,43393890,43393890,Silent,SNP,A,G,c.(3202-3204)tgT>tgC,10,128,0,28
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PLEKHH2,130271,2,43906708,43906708,Intron,SNP,T,C,,10,76,0,25
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DYNC2LI1,51626,2,44002857,44002857,Intron,SNP,C,T,,16,264,0,34
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NRXN1,9378,2,50201291,50201291,Intron,SNP,C,A,,6,53,0,117
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NRXN1,9378,2,50201293,50201293,Intron,SNP,C,T,,6,48,0,109
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C2orf74,339804,2,61386474,61386474,Intron,SNP,T,C,,14,158,0,16
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,COMMD1,150684,2,62196222,62196222,Intron,SNP,C,T,,12,88,1,58
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,EHBP1,23301,2,63223882,63223882,Silent,SNP,T,C,c.(3295-3297)ctT>ctC,8,95,0,127
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UGP2,7360,2,64082856,64082856,Intron,SNP,T,A,,13,207,1,69
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,APLF,200558,2,68717382,68717382,Nonsense_Mutation,SNP,C,T,c.(157-159)Cga>Tga,7,92,0,73
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MAP3K2,10746,2,128065299,128065299,Silent,SNP,T,C,c.(1714-1716)aaA>aaG,10,188,0,225
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UBXN4,23190,2,136505244,136505244,Intron,SNP,A,G,,9,150,0,83
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZEB2,9839,2,145161615,145161615,Silent,SNP,T,C,c.(673-675)tcA>tcG,9,131,0,157
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MBD5,55777,2,149227099,149227099,Missense_Mutation,SNP,A,G,c.(1585-1587)atA>atG,5,38,0,167
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MBD5,55777,2,149241178,149241178,Intron,SNP,A,G,,9,120,0,213
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MMADHC,27249,2,150428767,150428767,Intron,SNP,T,C,,10,164,0,66
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GALNT13,114805,2,155294134,155294134,Intron,SNP,C,T,,9,111,0,40
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GALNT13,114805,2,155294185,155294185,Intron,SNP,A,G,,10,122,0,45
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ERMN,57471,2,158180681,158180681,Intron,SNP,A,G,,8,130,0,19
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NOSTRIN,115677,2,169674787,169674787,Intron,SNP,T,C,,15,144,0,72
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,METTL5,29081,2,170668861,170668861,Intron,SNP,T,C,,27,57,0,38
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RAPGEF4,11069,2,173861230,173861230,Missense_Mutation,SNP,A,T,c.(1525-1527)ttA>ttT,8,22,0,57
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CIR1,9541,2,175216449,175216449,Silent,SNP,T,C,c.(487-489)ccA>ccG,5,56,0,94
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PLEKHA3,65977,2,179365822,179365822,Missense_Mutation,SNP,C,T,c.(694-696)Ctt>Ttt,7,80,0,111
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DNAH7,56171,2,196771641,196771641,Silent,SNP,A,G,c.(4195-4197)acT>acC,5,16,0,48
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DNAH7,56171,2,196771668,196771668,Silent,SNP,G,A,c.(4168-4170)ctC>ctT,6,45,0,59
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CFLAR,8837,2,202018896,202018896,Intron,SNP,T,C,,7,92,0,18
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CFLAR,8837,2,202018945,202018945,Intron,SNP,A,G,,4,15,0,9
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C2orf80,389073,2,209033135,209033135,Intron,SNP,A,C,,5,27,0,16
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RPE,6120,2,210882559,210882559,Intron,SNP,G,C,,15,263,0,61
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,IKZF2,22807,2,213872261,213872261,Silent,SNP,A,T,c.(1402-1404)atT>atA,6,57,0,146
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ATIC,471,2,216213428,216213428,Intron,SNP,A,G,,7,32,0,25
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RQCD1,9125,2,219438816,219438816,Intron,SNP,T,C,,6,80,0,34
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AP1S3,130340,2,224617561,224617561,Missense_Mutation,SNP,A,G,c.(475-477)Tgc>Cgc,11,172,0,51
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RHBDD1,84236,2,227807216,227807216,Intron,SNP,G,A,,6,30,0,19
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC16A14,151473,2,230931445,230931445,Intron,SNP,A,G,,13,82,0,43
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC16A14,151473,2,230931476,230931476,Intron,SNP,G,A,,6,31,0,18
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DTYMK,1841,2,242621666,242621666,Intron,SNP,A,G,,21,252,0,113
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SETD5,55209,3,9517624,9517624,Missense_Mutation,SNP,G,A,c.(4177-4179)aGt>aAt,14,237,0,307
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SETD5,55209,3,9517642,9517642,Missense_Mutation,SNP,T,C,c.(4195-4197)gTc>gCc,11,230,0,287
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SETD5,55209,3,9517694,9517694,Silent,SNP,C,T,c.(4246-4248)caC>caT,7,92,0,199
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C3orf83,0,3,12580704,12580704,IGR,SNP,A,C,,6,65,0,57
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BTD,686,3,15673000,15673000,Intron,SNP,A,T,,7,93,0,58
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZCWPW2,152098,3,28519860,28519860,Intron,SNP,A,G,,8,104,0,31
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,EXOG,9941,3,38541220,38541220,Intron,SNP,T,C,,16,198,0,92
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SETD2,29072,3,47147188,47147188,Intron,SNP,A,T,,14,202,0,77
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SETD2,29072,3,47147209,47147209,Intron,SNP,G,A,,21,126,0,57
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,USP4,7375,3,49349985,49349985,Intron,SNP,A,G,,10,166,0,74
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RHOA,387,3,49397702,49397702,Silent,SNP,A,G,c.(520-522)gcT>gcC,8,118,0,94
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RHOA,387,3,49397708,49397708,Silent,SNP,T,C,c.(514-516)gaA>gaG,8,129,0,102
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C3orf30,152405,3,118865043,118865043,Missense_Mutation,SNP,G,A,c.(7-9)Gag>Aag,5,1,0,15
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ARGFX,503582,3,121295739,121295739,Missense_Mutation,SNP,C,G,c.(211-213)gCg>gGg,10,48,0,45
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ADCY5,111,3,123005599,123005599,Missense_Mutation,SNP,T,C,c.(3589-3591)gAc>gGc,9,172,0,121
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,IFT122,55764,3,129178196,129178196,Intron,SNP,G,A,,10,142,0,50
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PCCB,5096,3,135979186,135979186,Intron,SNP,T,C,,7,61,0,38
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MBNL1,4154,3,152165438,152165438,Silent,SNP,A,G,c.(889-891)ttA>ttG,6,87,0,105
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C3orf33,285315,3,155521875,155521875,Intron,SNP,C,G,,5,8,0,12
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C3orf33,285315,3,155521880,155521880,Intron,SNP,A,G,,4,14,0,15
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,IFT80,57560,3,159986240,159986240,Silent,SNP,T,C,c.(2182-2184)aaA>aaG,8,88,0,134
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PHC3,80012,3,169868409,169868409,Intron,SNP,A,G,,4,22,0,14
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,IGF2BP2,10644,3,185439945,185439945,Intron,SNP,T,C,,6,54,0,45
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,EIF4A2,1974,3,186507028,186507028,Silent,SNP,G,A,c.(1192-1194)gaG>gaA,6,45,0,43
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TP63,8626,3,189562092,189562092,Intron,SNP,G,C,,14,169,0,43
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TP63,8626,3,189562188,189562188,Intron,SNP,T,C,,6,43,0,18
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GP5,2814,3,194117932,194117932,Silent,SNP,G,A,c.(1078-1080)cgC>cgT,21,512,0,152
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ATP13A3,79572,3,194219513,194219513,5'Flank,SNP,C,T,,16,139,0,47
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ATP13A3,79572,3,194219514,194219514,5'Flank,SNP,G,A,,12,143,0,46
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,XXYLT1,152002,3,194968493,194968493,Intron,SNP,G,T,,12,143,0,58
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC51A,200931,3,195950791,195950791,Intron,SNP,T,C,,19,176,0,39
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TMEM175,84286,4,950334,950334,Intron,SNP,A,G,,10,55,0,44
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TMEM175,84286,4,950356,950356,Intron,SNP,A,G,,4,15,0,33
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FAM193A,8603,4,2709937,2709937,Silent,SNP,T,C,c.(3562-3564)ctT>ctC,16,204,0,67
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,OTOP1,133060,4,4199327,4199327,Missense_Mutation,SNP,T,A,c.(1234-1236)Atc>Ttc,14,38,0,120
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C4orf50,389197,4,5966748,5966748,Intron,SNP,C,A,,11,39,0,102
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PCDH7,5099,4,30921942,30921942,Silent,SNP,A,G,c.(3340-3342)gaA>gaG,6,92,0,132
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PCDH7,5099,4,31144327,31144327,Silent,SNP,G,A,c.(3622-3624)aaG>aaA,11,100,0,173
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ANKRD17,26057,4,73986736,73986736,Silent,SNP,C,A,c.(3709-3711)ctG>ctT,7,87,0,140
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ANKRD17,26057,4,74005324,74005324,Silent,SNP,C,G,c.(3007-3009)ctG>ctC,11,115,0,136
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ANKRD17,26057,4,74005393,74005393,Silent,SNP,C,A,c.(2938-2940)ctG>ctT,10,162,0,145
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ANKRD17,26057,4,74005525,74005525,Silent,SNP,T,C,c.(2806-2808)ttA>ttG,6,94,0,113
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CCNG2,901,4,78100187,78100187,Silent,SNP,A,C,c.(988-990)tcA>tcC,8,65,0,13
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LIN54,132660,4,83905481,83905481,Missense_Mutation,SNP,A,G,c.(517-519)Tca>Cca,6,59,0,95
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LIN54,132660,4,83905493,83905493,Missense_Mutation,SNP,T,C,c.(505-507)Act>Gct,6,51,0,91
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GSTCD,79807,4,106682191,106682191,Intron,SNP,T,C,,9,80,0,18
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LEF1,51176,4,109002810,109002810,Silent,SNP,T,A,c.(652-654)gtA>gtT,9,120,0,146
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SEC24B,10427,4,110370651,110370651,Intron,SNP,T,G,,19,348,0,128
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UGT8,7368,4,115585282,115585282,Missense_Mutation,SNP,A,T,c.(952-954)aaA>aaT,19,37,0,79
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SMARCA5,8467,4,144468015,144468015,Silent,SNP,A,C,c.(2605-2607)gcA>gcC,7,83,0,87
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SMARCA5,8467,4,144468030,144468030,Silent,SNP,C,A,c.(2620-2622)ggC>ggA,7,66,0,77
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF827,152485,4,146807191,146807191,Silent,SNP,T,C,c.(1384-1386)gaA>gaG,8,127,0,125
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FGA,2243,4,155505831,155505831,Silent,SNP,T,C,c.(2044-2046)tcA>tcG,8,150,0,287
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GRIA2,2891,4,158284133,158284133,Silent,SNP,A,C,c.(2587-2589)tcA>tcC,5,58,0,98
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KLHL2,11275,4,166145154,166145154,Intron,SNP,A,C,,10,120,1,45
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GALNTL6,442117,4,173730666,173730666,Silent,SNP,G,A,c.(706-708)gaG>gaA,10,15,0,52
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RP11-487E13.1,0,4,178169362,178169362,Missense_Mutation,SNP,C,G,c.(70-72)gGc>gCc,10,112,0,60
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RP11-43F13.3,0,5,989519,989519,RNA,SNP,T,C,,13,170,0,59
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CDH6,1004,5,31317845,31317845,Silent,SNP,T,C,c.(1696-1698)Ttg>Ctg,5,48,0,68
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CDH6,1004,5,31317862,31317862,Silent,SNP,A,G,c.(1711-1713)tcA>tcG,7,72,0,118
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF131,7690,5,43120115,43120115,5'Flank,SNP,A,G,,21,110,0,31
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PARP8,79668,5,50037736,50037736,Intron,SNP,C,T,,15,274,1,67
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ANKRD55,79722,5,55410043,55410043,Intron,SNP,C,T,,10,153,0,41
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SREK1,140890,5,65459653,65459653,Silent,SNP,C,T,c.(439-441)ccC>ccT,7,82,0,47
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SERF1B,728492,5,69325696,69325696,Intron,SNP,T,C,,7,43,0,161
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FCHO2,115548,5,72333699,72333699,Intron,SNP,A,G,,7,108,0,31
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FCHO2,115548,5,72333775,72333775,Intron,SNP,C,T,,6,38,0,15
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FCHO2,115548,5,72333776,72333776,Intron,SNP,A,G,,6,37,0,16
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AP3B1,8546,5,77385250,77385250,Silent,SNP,A,G,c.(2542-2544)ggT>ggC,71,124,0,217
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PAPD4,167153,5,78977843,78977843,Missense_Mutation,SNP,G,A,c.(1339-1341)Gaa>Aaa,23,55,0,84
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RHOBTB3,22836,5,95072743,95072743,Missense_Mutation,SNP,C,A,c.(379-381)Cca>Aca,7,88,0,94
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CAMK4,814,5,110712643,110712643,Intron,SNP,G,A,,13,37,0,52
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,APC,324,5,112154773,112154773,Silent,SNP,A,G,c.(1042-1044)cgA>cgG,11,115,0,174
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,YTHDC2,64848,5,112889555,112889555,Intron,SNP,A,T,,15,19,0,51
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AP3S1,1176,5,115249050,115249050,Intron,SNP,T,C,,5,21,0,43
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UBE2B,7320,5,133724736,133724736,Intron,SNP,G,A,,5,50,0,8
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KDM3B,51780,5,137721872,137721872,Silent,SNP,C,T,c.(940-942)agC>agT,6,79,0,103
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MATR3,9782,5,138643914,138643914,Silent,SNP,A,G,c.(808-810)agA>agG,6,33,0,106
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NRG2,9542,5,139245201,139245201,Silent,SNP,A,G,c.(1120-1122)aaT>aaC,4,22,0,64
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ANKHD1,54882,5,139910928,139910928,Intron,SNP,A,G,,8,101,0,25
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PCDHA5,56143,5,140201566,140201566,Missense_Mutation,SNP,G,A,c.(205-207)gGc>gAc,47,612,0,366
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PCDH1,5097,5,141244024,141244024,Silent,SNP,G,A,c.(1870-1872)aaC>aaT,8,91,0,126
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ARHGAP26,23092,5,142587024,142587024,Silent,SNP,A,C,c.(2248-2250)gtA>gtC,4,27,0,91
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DCTN4,51164,5,150112966,150112966,Silent,SNP,C,T,c.(499-501)ctG>ctA,10,81,0,95
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CCNJL,79616,5,159742464,159742464,5'Flank,SNP,T,A,,8,96,0,34
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GABRG2,2566,5,161529676,161529676,Intron,SNP,T,A,,8,56,0,70
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RARS,5917,5,167915258,167915258,Intron,SNP,A,G,,10,88,0,18
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RARS,5917,5,167915266,167915266,Intron,SNP,A,G,,14,62,0,17
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FAM193B,54540,5,176950244,176950244,Intron,SNP,A,G,,7,98,0,31
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ADAMTS2,9509,5,178578171,178578171,Intron,SNP,A,T,,6,36,0,28
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LYRM4,57128,6,5113552,5113552,Intron,SNP,A,G,,18,316,0,59
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LYRM4,57128,6,5113567,5113567,Intron,SNP,A,G,,15,345,0,65
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LYRM4,57128,6,5113630,5113630,Intron,SNP,T,C,,10,130,0,44
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PHACTR1,221692,6,13196741,13196741,Intron,SNP,T,C,,14,162,0,38
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KIF13A,63971,6,17881731,17881731,Intron,SNP,T,G,,15,290,0,70
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HIST1H2BE,8344,6,26184089,26184089,Silent,SNP,G,C,c.(64-66)gcG>gcC,17,397,0,218
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HIST1H4I,8294,6,27107300,27107300,Silent,SNP,G,C,c.(211-213)gtG>gtC,22,556,0,199
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HIST1H4I,8294,6,27107330,27107330,Silent,SNP,G,C,c.(241-243)acG>acC,26,422,0,179
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HIST1H2BN,8341,6,27806751,27806751,Silent,SNP,A,C,c.(310-312)ccA>ccC,27,770,0,188
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,USP49,25862,6,41766624,41766624,Missense_Mutation,SNP,C,T,c.(1714-1716)Gtc>Atc,5,61,0,121
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CDC5L,988,6,44413454,44413454,Silent,SNP,A,G,c.(2152-2154)aaA>aaG,7,55,1,105
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CDC5L,988,6,44413466,44413466,Silent,SNP,G,T,c.(2164-2166)ggG>ggT,11,71,0,106
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CDC5L,988,6,44413469,44413469,Silent,SNP,T,A,c.(2167-2169)ggT>ggA,11,80,0,114
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CDC5L,988,6,44413523,44413523,Silent,SNP,A,G,c.(2221-2223)caA>caG,16,145,0,167
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CDC5L,988,6,44413529,44413529,Silent,SNP,A,G,c.(2227-2229)gaA>gaG,16,142,0,166
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CDC5L,988,6,44413545,44413545,Silent,SNP,T,C,c.(2245-2247)Tta>Cta,13,113,0,150
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,EFHC1,114327,6,52357499,52357499,3'UTR,SNP,G,A,,5,21,0,20
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PHF3,23469,6,64395823,64395823,Intron,SNP,A,G,,3,8,0,31
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,COL19A1,1310,6,70886418,70886418,Silent,SNP,C,A,c.(2629-2631)Cga>Aga,14,53,0,71
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MTO1,25821,6,74190802,74190802,Intron,SNP,T,G,,7,91,0,29
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BVES,11149,6,105581359,105581359,Missense_Mutation,SNP,T,C,c.(94-96)Acc>Gcc,19,37,0,83
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PPIL6,285755,6,109726213,109726213,Intron,SNP,C,T,,11,108,0,33
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AMD1,262,6,111213560,111213560,Silent,SNP,T,C,c.(529-531)Ttg>Ctg,17,193,0,158
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AMD1,262,6,111214823,111214823,3'UTR,SNP,A,G,,4,27,0,48
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TBC1D32,221322,6,121401456,121401456,IGR,SNP,C,T,,9,119,0,25
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TBC1D32,221322,6,121401457,121401457,IGR,SNP,G,A,,9,119,0,28
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RP11-510H23.1,0,6,125232632,125232632,RNA,SNP,C,G,,4,27,0,10
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RNF217,154214,6,125292724,125292724,Intron,SNP,T,C,,6,50,0,12
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,THEMIS,387357,6,128128397,128128397,Intron,SNP,G,T,,5,16,0,8
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PEX7,5191,6,137191957,137191957,Intron,SNP,A,C,,10,71,0,31
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SYNE1,23345,6,152523018,152523018,Missense_Mutation,SNP,G,T,c.(23086-23088)Ctt>Att,11,79,0,164
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PARK2,5071,6,162992261,162992261,Intron,SNP,A,G,,5,36,0,14
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C6orf118,168090,6,165715757,165715757,Silent,SNP,C,A,c.(52-54)acG>acT,7,12,0,53
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CARD11,84433,7,2954945,2954945,Missense_Mutation,SNP,A,G,c.(2764-2766)aTc>aCc,42,257,0,169
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RNF216,54476,7,5800063,5800063,Intron,SNP,T,C,,10,110,0,39
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NEUROD6,63974,7,31378022,31378022,Silent,SNP,G,A,c.(859-861)taC>taT,10,116,0,160
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NEUROD6,63974,7,31378037,31378037,Silent,SNP,A,G,c.(844-846)ggT>ggC,8,78,0,149
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C7orf10,0,7,40257090,40257090,Intron,SNP,A,C,,8,92,0,79
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C7orf10,0,7,40257091,40257091,Intron,SNP,A,G,,7,93,0,80
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HECW1,23072,7,43562651,43562651,Intron,SNP,A,G,,17,250,0,69
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HECW1,23072,7,43562659,43562659,Intron,SNP,A,G,,12,245,0,68
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NPC1L1,29881,7,44558232,44558232,Missense_Mutation,SNP,T,C,c.(3169-3171)tAc>tGc,11,92,0,25
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,Unknown,0,7,57233701,57233701,IGR,SNP,G,C,,4,28,0,25
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF273,10793,7,64383765,64383765,Intron,SNP,T,C,,16,207,0,107
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF117,51351,7,64438674,64438674,Silent,SNP,G,A,c.(1273-1275)gcC>gcT,8,80,1,149
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CRCP,27297,7,65595188,65595188,Intron,SNP,A,G,,10,49,0,10
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RABGEF1,27342,7,66261770,66261770,3'UTR,SNP,A,G,,4,11,0,25
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MLXIPL,51085,7,73011648,73011648,Silent,SNP,G,A,c.(1465-1467)tcC>tcT,5,20,0,36
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NCF1,653361,7,74192714,74192714,Intron,SNP,C,T,,9,125,0,53
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ADAM22,53616,7,87815922,87815922,Intron,SNP,T,C,,9,97,0,149
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DYNC1I1,1780,7,95739378,95739378,Missense_Mutation,SNP,A,G,c.(1804-1806)Aca>Gca,14,152,0,83
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BHLHA15,168620,7,97841849,97841849,Silent,SNP,G,T,c.(226-228)cgG>cgT,191,1350,0,230
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CYP3A43,64816,7,99436330,99436330,Intron,SNP,T,C,,11,204,0,63
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CYP3A43,64816,7,99447682,99447682,Intron,SNP,T,C,,21,440,0,74
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SYPL1,6856,7,105733024,105733024,Intron,SNP,T,C,,9,51,0,29
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SYPL1,6856,7,105733034,105733034,Intron,SNP,A,G,,10,76,0,38
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PIK3CG,5294,7,106513331,106513331,Silent,SNP,C,A,c.(2233-2235)gtC>gtA,46,54,0,142
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DOCK4,9732,7,111617306,111617306,Silent,SNP,C,A,c.(580-582)ccG>ccT,8,69,0,93
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GPR85,54329,7,112724207,112724207,Silent,SNP,A,G,c.(568-570)ctT>ctC,6,69,0,106
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PTPRZ1,5803,7,121651439,121651439,Missense_Mutation,SNP,T,C,c.(2338-2340)aTc>aCc,5,61,0,108
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KLHDC10,23008,7,129770439,129770439,Silent,SNP,A,G,c.(1180-1182)tcA>tcG,9,127,0,162
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KLHDC10,23008,7,129770440,129770440,Silent,SNP,T,C,c.(1183-1185)Ttg>Ctg,9,130,0,161
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AGBL3,340351,7,134694832,134694832,Missense_Mutation,SNP,C,T,c.(349-351)gCg>gTg,10,101,0,43
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MKRN1,23608,7,140159952,140159952,Intron,SNP,T,C,,12,109,0,13
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MKRN1,23608,7,140175032,140175032,Intron,SNP,T,A,,17,274,0,74
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MKRN1,23608,7,140175038,140175038,Intron,SNP,A,G,,17,275,0,68
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SSPO,23145,7,149508005,149508005,RNA,SNP,C,T,,8,96,0,81
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NOS3,4846,7,150700489,150700489,Nonstop_Mutation,SNP,T,C,c.(1843-1845)Tag>Cag,6,33,0,23
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UBE3C,9690,7,157023841,157023841,Silent,SNP,T,C,c.(2299-2301)atT>atC,6,86,0,187
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MTMR9,66036,8,11162454,11162454,Silent,SNP,G,A,c.(520-522)cgG>cgA,11,88,0,121
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FDFT1,2222,8,11659426,11659426,5'Flank,SNP,T,C,,16,113,0,73
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,VPS37A,137492,8,17105928,17105928,Intron,SNP,T,C,,16,228,0,98
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC7A2,6542,8,17412175,17412175,Missense_Mutation,SNP,A,G,c.(1162-1164)Ata>Gta,5,50,0,56
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC7A2,6542,8,17412189,17412189,Silent,SNP,A,G,c.(1174-1176)ttA>ttG,4,30,0,44
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ADRA1A,148,8,26606073,26606073,Missense_Mutation,SNP,T,C,c.(1075-1077)cAt>cGt,7,83,0,15
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ADRA1A,148,8,26606159,26606159,Missense_Mutation,SNP,G,A,c.(1375-1377)gCa>gTa,12,174,0,33
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RBPMS,11030,8,30361835,30361835,Silent,SNP,A,G,c.(277-279)acA>acG,7,103,0,113
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RBPMS,11030,8,30361946,30361946,Silent,SNP,A,G,c.(388-390)agA>agG,5,41,0,75
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PURG,29942,8,30889390,30889390,Silent,SNP,T,C,c.(907-909)ccA>ccG,5,56,0,122
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NRG1,3084,8,32505650,32505650,Intron,SNP,G,C,,7,41,0,112
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,VCPIP1,80124,8,67547516,67547516,Silent,SNP,C,G,c.(2887-2889)gtG>gtC,6,87,0,135
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,VCPIP1,80124,8,67547570,67547570,Silent,SNP,C,T,c.(2833-2835)ctG>ctA,4,14,0,54
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LACTB2,51110,8,71573225,71573225,Intron,SNP,A,G,,9,74,0,32
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,XKR9,389668,8,71595847,71595847,Intron,SNP,T,C,,21,342,0,87
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TMEM70,54968,8,74891309,74891309,Intron,SNP,T,C,,18,196,0,69
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FAM92A1,137392,8,94736744,94736744,Intron,SNP,A,G,,21,423,0,103
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TMEM67,91147,8,94772129,94772129,Intron,SNP,A,G,,9,93,0,27
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TMEM67,91147,8,94804192,94804192,Intron,SNP,C,T,,8,96,0,8
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UQCRB,7381,8,97242453,97242453,3'UTR,SNP,A,G,,3,8,0,18
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,Unknown,0,8,101669991,101669991,IGR,SNP,T,C,,18,326,0,161
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CSMD3,114788,8,113564905,113564905,Missense_Mutation,SNP,A,T,c.(4279-4281)Tta>Ata,8,74,0,80
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KCNQ3,3786,8,133153461,133153461,Silent,SNP,T,C,c.(1378-1380)gaA>gaG,6,83,0,179
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KCNQ3,3786,8,133153467,133153467,Silent,SNP,A,G,c.(1372-1374)tcT>tcC,7,81,0,173
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KCNQ3,3786,8,133153473,133153473,Silent,SNP,A,G,c.(1366-1368)agT>agC,7,88,0,172
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PHF20L1,51105,8,133826925,133826925,Missense_Mutation,SNP,A,T,c.(973-975)gAc>gTc,8,72,0,92
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DMRT1,1761,9,842360,842360,Intron,SNP,A,G,,4,15,0,9
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RFX3,5991,9,3452320,3452320,Intron,SNP,T,G,,6,72,0,26
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CNTLN,54875,9,17495001,17495001,Nonstop_Mutation,SNP,T,C,c.(4216-4218)Tga>Cga,11,159,0,50
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,IFT74,80173,9,26982372,26982372,Intron,SNP,T,C,,24,480,0,168
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CLTA,1211,9,36199007,36199007,Missense_Mutation,SNP,C,G,c.(286-288)gCt>gGt,10,105,0,134
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GNE,10020,9,36263356,36263356,Intron,SNP,T,C,,7,53,0,10
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TRPM6,140803,9,77490191,77490191,Intron,SNP,A,G,,10,148,0,88
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,IDNK,414328,9,86241515,86241515,Intron,SNP,T,A,,17,255,0,83
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FANCC,2176,9,97885668,97885668,Intron,SNP,C,T,,16,72,0,40
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC44A1,23446,9,108145611,108145611,Silent,SNP,A,C,c.(1840-1842)Aga>Cga,4,21,0,94
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KIAA0368,23392,9,114136270,114136270,Missense_Mutation,SNP,C,A,c.(4159-4161)Gac>Tac,16,74,0,102
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,COL27A1,85301,9,116980145,116980145,Intron,SNP,A,G,,12,69,0,69
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FBXW2,26190,9,123550282,123550282,Silent,SNP,T,C,c.(253-255)aaA>aaG,5,55,0,111
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C5,727,9,123762217,123762217,Intron,SNP,A,G,,9,127,0,53
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C5,727,9,123762229,123762229,Intron,SNP,T,C,,13,114,0,46
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C5,727,9,123762230,123762230,Intron,SNP,G,A,,8,117,0,46
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CIZ1,25792,9,130941289,130941289,Silent,SNP,C,T,c.(1195-1197)ccG>ccA,8,100,1,112
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PPP2R4,5524,9,131881415,131881415,Intron,SNP,C,T,,8,43,0,12
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SARDH,1757,9,136590705,136590705,Intron,SNP,C,G,,21,195,0,50
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PFKFB3,5209,10,6266570,6266570,Intron,SNP,C,A,,9,43,0,27
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FAM171A1,221061,10,15256064,15256064,Missense_Mutation,SNP,G,A,c.(1522-1524)tCc>tTc,8,43,0,75
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PTPLA,9200,10,17657771,17657771,Intron,SNP,C,G,,12,154,0,47
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PTPLA,9200,10,17657866,17657866,Intron,SNP,C,T,,16,220,0,61
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NEBL,10529,10,21074769,21074769,Silent,SNP,C,A,c.(2950-2952)gtG>gtT,14,49,0,151
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SKIDA1,387640,10,21806668,21806668,Silent,SNP,G,A,c.(82-84)gcC>gcT,6,42,0,35
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ARHGAP21,57584,10,24879413,24879413,Intron,SNP,T,G,,5,39,0,65
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,VSTM4,196740,10,50323469,50323469,Intron,SNP,C,A,,46,172,0,12
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HERC4,26091,10,69755850,69755850,Intron,SNP,C,G,,11,145,0,58
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TBATA,219793,10,72539521,72539521,Intron,SNP,G,A,,5,35,0,24
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NRG3,10718,10,84711235,84711235,Missense_Mutation,SNP,A,C,c.(1063-1065)gaA>gaC,5,48,0,69
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LCOR,84458,10,98714803,98714803,Silent,SNP,T,C,c.(424-426)ggT>ggC,10,150,0,150
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LCOR,84458,10,98714845,98714845,Silent,SNP,C,T,c.(466-468)tcC>tcT,9,174,0,176
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LCOR,84458,10,98715448,98715448,Silent,SNP,A,C,c.(1069-1071)gcA>gcC,11,158,0,154
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LCOR,84458,10,98715454,98715454,Silent,SNP,A,G,c.(1075-1077)tcA>tcG,10,151,0,156
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PI4K2A,55361,10,99416074,99416074,Silent,SNP,T,C,c.(667-669)taT>taC,6,56,0,90
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LOXL4,84171,10,100011377,100011377,Silent,SNP,A,G,c.(2032-2034)atT>atC,6,95,0,128
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NEURL,0,10,105348658,105348658,Intron,SNP,G,A,,13,191,0,55
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DUSP5,1847,10,112266743,112266743,Silent,SNP,T,C,c.(577-579)caT>caC,8,112,0,185
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ATRNL1,26033,10,117357304,117357304,Intron,SNP,T,C,,4,11,0,26
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C10orf137,0,10,127445423,127445423,Intron,SNP,T,C,,6,63,0,31
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KNDC1,85442,10,135009191,135009191,Missense_Mutation,SNP,G,A,c.(1600-1602)Gtt>Att,19,142,0,101
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SYCE1,93426,10,135372390,135372390,Missense_Mutation,SNP,G,T,c.(262-264)Ctg>Atg,8,98,0,147
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF195,7748,11,3383020,3383020,Missense_Mutation,SNP,T,C,c.(325-327)aAc>aGc,13,235,0,93
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,OR52N1,79473,11,5809399,5809399,Silent,SNP,A,G,c.(646-648)atT>atC,29,99,0,294
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TAF10,6881,11,6632444,6632444,Silent,SNP,G,A,c.(541-543)tcC>tcT,8,82,0,84
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,IPO7,10527,11,9413770,9413770,Intron,SNP,A,G,,17,124,0,20
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,IPO7,10527,11,9446534,9446534,Silent,SNP,A,G,c.(1213-1215)aaA>aaG,6,15,0,52
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MRVI1,10335,11,10711829,10711829,5'UTR,SNP,T,C,,5,23,0,25
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MRVI1,10335,11,10711844,10711844,5'UTR,SNP,T,G,,6,34,0,34
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RPS13,6207,11,17098025,17098025,Intron,SNP,T,C,,10,87,0,21
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KCNC1,3746,11,17794033,17794033,Silent,SNP,G,A,c.(1390-1392)ccG>ccA,9,144,1,185
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KCNC1,3746,11,17794159,17794159,Silent,SNP,T,C,c.(1516-1518)ctT>ctC,3,3,0,39
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KCNC1,3746,11,17794189,17794189,3'UTR,SNP,T,C,,3,1,0,13
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NAV2,89797,11,19955641,19955641,Silent,SNP,G,A,c.(1918-1920)gcG>gcA,5,59,0,35
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ELP4,26610,11,31703559,31703559,Intron,SNP,A,G,,11,88,0,35
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LDLRAD3,143458,11,36123495,36123495,Intron,SNP,G,A,,11,127,0,20
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LDLRAD3,143458,11,36123500,36123500,Intron,SNP,A,G,,8,109,0,20
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LDLRAD3,143458,11,36123502,36123502,Intron,SNP,A,G,,8,103,0,20
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ARHGAP1,392,11,46699380,46699380,3'UTR,SNP,G,A,,8,31,0,23
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MADD,8567,11,47331111,47331111,Missense_Mutation,SNP,G,A,c.(4105-4107)cGc>cAc,18,100,0,141
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BEST1,7439,11,61725924,61725924,Intron,SNP,C,T,,11,176,0,103
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AHNAK,79026,11,62289751,62289751,Silent,SNP,G,A,c.(12136-12138)gcC>gcT,14,98,0,185
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC3A2,6520,11,62652724,62652724,Silent,SNP,G,T,c.(1195-1197)ctG>ctT,9,113,0,126
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PYGM,5837,11,64521058,64521058,Missense_Mutation,SNP,A,G,c.(1336-1338)Tgc>Cgc,153,234,0,199
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NDUFS8,4728,11,67803227,67803227,Intron,SNP,T,C,,11,91,0,33
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SHANK2,22941,11,70753998,70753998,Intron,SNP,A,G,,30,354,0,137
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SHANK2,22941,11,70754013,70754013,Intron,SNP,T,C,,30,408,0,132
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SHANK2,22941,11,70754135,70754135,Intron,SNP,A,G,,7,34,0,34
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C2CD3,26005,11,73824617,73824617,Intron,SNP,C,T,,4,8,0,21
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FAT3,120114,11,92292674,92292674,Intron,SNP,T,C,,8,86,0,55
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GUCY1A2,2977,11,106558346,106558346,Missense_Mutation,SNP,G,T,c.(2128-2130)Ctt>Att,15,96,0,244
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AP001024.2,0,11,107643145,107643145,Missense_Mutation,SNP,G,C,c.(16-18)aGa>aCa,6,61,0,45
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TMPRSS13,84000,11,117774146,117774146,3'UTR,SNP,C,G,,6,86,0,142
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HSPA8,3312,11,122929869,122929869,Silent,SNP,A,G,c.(1219-1221)ggT>ggC,7,109,0,107
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,EI24,9538,11,125443388,125443388,Intron,SNP,T,C,,6,56,0,39
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,USP5,8078,12,6972550,6972550,Intron,SNP,C,T,,4,24,0,41
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CLSTN3,9746,12,7295588,7295588,Missense_Mutation,SNP,A,G,c.(1663-1665)tAt>tGt,38,44,0,117
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CD163L1,283316,12,7528553,7528553,Missense_Mutation,SNP,A,G,c.(2428-2430)gTg>gCg,9,25,0,109
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NANOGNB,360030,12,7917895,7917895,Missense_Mutation,SNP,G,A,c.(13-15)cGg>cAg,12,226,0,90
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NANOGNB,360030,12,7917905,7917905,Silent,SNP,G,A,c.(22-24)acG>acA,12,184,0,75
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NANOGNB,360030,12,7917942,7917942,Missense_Mutation,SNP,A,G,c.(61-63)Aga>Gga,6,35,0,44
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC2A14,144195,12,7992418,7992418,Intron,SNP,T,C,,11,198,0,148
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CLEC1A,51267,12,10245041,10245041,Intron,SNP,A,G,,10,138,0,49
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,Unknown,0,12,19705817,19705817,IGR,SNP,T,A,,6,62,0,9
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C2CD5,9847,12,22670966,22670966,Silent,SNP,T,C,c.(904-906)cgA>cgG,7,99,0,163
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PKP2,5318,12,32996124,32996124,Missense_Mutation,SNP,T,C,c.(1501-1503)gAc>gGc,6,93,0,40
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC48A1,55652,12,48174629,48174629,3'UTR,SNP,T,C,,12,195,1,80
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ASB8,140461,12,48543557,48543557,Silent,SNP,T,C,c.(457-459)acA>acG,8,68,0,151
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ASB8,140461,12,48543563,48543563,Silent,SNP,A,G,c.(451-453)aaT>aaC,7,65,0,148
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FKBP11,51303,12,49316823,49316823,Intron,SNP,C,T,,9,122,0,18
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SPATS2,65244,12,49880028,49880028,Intron,SNP,T,C,,14,180,0,63
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SPATS2,65244,12,49880057,49880057,Intron,SNP,A,G,,8,111,0,47
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CERS5,91012,12,50547653,50547653,Intron,SNP,T,C,,11,183,0,45
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CERS5,91012,12,50548020,50548020,Intron,SNP,T,C,,20,146,0,36
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CERS5,91012,12,50548028,50548028,Intron,SNP,C,T,,13,166,0,34
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CERS5,91012,12,50548029,50548029,Intron,SNP,G,A,,10,171,0,34
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC4A8,9498,12,51873814,51873814,Silent,SNP,T,C,c.(2050-2052)ggT>ggC,7,64,0,27
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SP1,6667,12,53776466,53776466,Silent,SNP,A,G,c.(733-735)gtA>gtG,7,75,0,96
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SP1,6667,12,53776560,53776560,Silent,SNP,T,C,c.(829-831)Ttg>Ctg,9,160,1,166
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SP1,6667,12,53804940,53804940,Silent,SNP,C,T,c.(2272-2274)ggC>ggT,8,77,0,148
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PCBP2,5094,12,53868942,53868942,Intron,SNP,G,A,,6,81,0,90
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PCBP2,5094,12,53868944,53868944,Intron,SNP,C,T,,6,77,0,85
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MYL6,4637,12,56553448,56553448,Silent,SNP,A,C,c.(109-111)Agg>Cgg,10,137,0,84
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,Unknown,0,12,57094571,57094571,IGR,SNP,A,G,,11,178,0,37
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,Unknown,0,12,57094573,57094573,IGR,SNP,G,A,,21,154,0,36
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PTPRB,5787,12,70946715,70946715,Missense_Mutation,SNP,C,A,c.(4573-4575)caG>caT,20,209,1,226
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NAV3,89795,12,78537185,78537185,Intron,SNP,T,C,,9,93,0,40
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UBE2N,7334,12,93804980,93804980,Silent,SNP,A,G,c.(124-126)ccT>ccC,9,139,1,105
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UBE2N,7334,12,93805031,93805031,Silent,SNP,G,T,c.(73-75)gcC>gcA,5,34,0,82
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SCYL2,55681,12,100711690,100711690,Missense_Mutation,SNP,C,G,c.(1381-1383)tCc>tGc,4,40,0,47
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SSH1,54434,12,109182688,109182688,Missense_Mutation,SNP,T,A,c.(2224-2226)gaA>gaT,7,42,0,87
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SSH1,54434,12,109230744,109230744,Intron,SNP,T,C,,19,315,0,85
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,IFT81,28981,12,110654406,110654406,Intron,SNP,T,C,,8,74,0,64
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,IFT81,28981,12,110654419,110654419,Intron,SNP,A,G,,8,75,0,56
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TCTN1,79600,12,111072238,111072238,Intron,SNP,C,T,,11,145,1,82
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PPP1CC,5501,12,111160453,111160453,Silent,SNP,G,T,c.(571-573)Cga>Aga,10,38,0,81
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,IQCD,115811,12,113645039,113645039,Intron,SNP,A,G,,5,25,0,18
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AL021546.6,0,12,120892817,120892817,Intron,SNP,G,A,,21,168,0,67
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RAN,5901,12,131358587,131358587,Intron,SNP,A,T,,18,182,0,56
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF268,10795,12,133761340,133761340,Intron,SNP,T,C,,14,167,0,57
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MPHOSPH8,54737,13,20244999,20244999,Intron,SNP,T,C,,20,312,0,58
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CCDC122,160857,13,44430702,44430702,Intron,SNP,C,G,,12,141,0,21
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PCDH9,5101,13,67205400,67205400,Silent,SNP,A,G,c.(3280-3282)taT>taC,8,54,0,166
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLITRK1,114798,13,84453789,84453789,Silent,SNP,C,G,c.(1852-1854)tcG>tcC,6,36,0,114
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLITRK1,114798,13,84453831,84453831,Silent,SNP,C,T,c.(1810-1812)acG>acA,8,87,1,205
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLITRK1,114798,13,84455315,84455315,Silent,SNP,T,G,c.(328-330)Agg>Cgg,5,59,0,184
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLITRK1,114798,13,84455340,84455340,Silent,SNP,A,T,c.(301-303)gcT>gcA,7,48,0,171
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLITRK1,114798,13,84455355,84455355,Silent,SNP,T,C,c.(286-288)gaA>gaG,7,52,0,185
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLITRK1,114798,13,84455379,84455379,Silent,SNP,G,A,c.(262-264)caC>caT,6,63,0,216
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLITRK5,26050,13,88327751,88327751,Silent,SNP,G,C,c.(106-108)tcG>tcC,10,168,1,169
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DOCK9,23348,13,99498193,99498193,Missense_Mutation,SNP,G,C,c.(4114-4116)Ctc>Gtc,5,43,0,66
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DOCK9,23348,13,99498288,99498288,Intron,SNP,A,C,,5,54,0,88
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DOCK9,23348,13,99537596,99537596,Intron,SNP,A,G,,7,36,0,17
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DOCK9,23348,13,99537656,99537656,Intron,SNP,G,A,,12,200,0,36
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DOCK9,23348,13,99537669,99537669,Intron,SNP,G,C,,24,253,0,41
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DOCK9,23348,13,99537678,99537678,Intron,SNP,C,T,,17,289,0,42
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DOCK9,23348,13,99537683,99537683,Intron,SNP,T,C,,20,305,0,43
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UBAC2,337867,13,99886641,99886641,Intron,SNP,G,A,,13,95,0,29
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UBAC2,337867,13,99886664,99886664,Intron,SNP,A,G,,6,39,0,21
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TPP2,7174,13,103260046,103260046,Intron,SNP,T,C,,32,324,0,85
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C14orf23,387978,14,29282191,29282191,Silent,SNP,G,T,c.(133-135)acG>acT,11,204,0,33
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AP4S1,11154,14,31552823,31552823,Intron,SNP,A,G,,13,244,0,63
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HECTD1,25831,14,31598378,31598378,Missense_Mutation,SNP,C,G,c.(4198-4200)gGt>gCt,9,121,0,165
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FKBP3,2287,14,45602554,45602554,Intron,SNP,T,C,,13,183,0,24
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KLHDC1,122773,14,50166807,50166807,Intron,SNP,C,T,,13,80,0,11
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C14orf105,55195,14,57942232,57942232,Intron,SNP,T,C,,10,39,0,24
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C14orf105,55195,14,57942318,57942318,Intron,SNP,G,A,,5,34,0,20
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC38A6,145389,14,61545595,61545595,Missense_Mutation,SNP,C,T,c.(1357-1359)cCg>cTg,9,132,0,55
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC38A6,145389,14,61545627,61545627,Silent,SNP,A,C,c.(1390-1392)Aga>Cga,7,62,0,36
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PCNX,22990,14,71455393,71455393,Silent,SNP,A,C,c.(2419-2421)acA>acC,7,101,0,102
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF410,57862,14,74391482,74391482,Intron,SNP,C,T,,5,34,0,22
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF410,57862,14,74393898,74393898,Intron,SNP,T,C,,12,126,0,13
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CCDC176,80127,14,74522088,74522088,Intron,SNP,A,G,,4,19,0,10
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZC3H14,79882,14,89039039,89039039,Silent,SNP,C,T,c.(547-549)gaC>gaT,6,41,0,141
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZC3H14,79882,14,89069308,89069308,Missense_Mutation,SNP,G,T,c.(1651-1653)Gca>Tca,14,179,0,340
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BTBD7,55727,14,93760232,93760232,Silent,SNP,C,T,c.(1132-1134)ctG>ctA,4,11,0,46
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UNC79,57578,14,93940513,93940513,Silent,SNP,T,C,c.(220-222)ccT>ccC,6,74,0,142
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BDKRB1,623,14,96729088,96729088,5'UTR,SNP,T,C,,9,111,0,79
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SETD3,84193,14,99927607,99927607,Silent,SNP,A,G,c.(265-267)aaT>aaC,7,119,0,119
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,WDR20,91833,14,102664725,102664725,Intron,SNP,A,G,,5,26,0,13
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ATP10A,57194,15,25928485,25928485,Missense_Mutation,SNP,G,T,c.(3439-3441)gCc>gAc,12,117,0,136
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TJP1,7082,15,30012727,30012727,Silent,SNP,A,C,c.(2596-2598)gtT>gtG,5,57,0,85
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BUB1B,701,15,40458602,40458602,Intron,SNP,A,G,,11,107,0,38
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KNSTRN,90417,15,40681457,40681457,Intron,SNP,A,C,,11,35,0,44
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RAD51,5888,15,40994084,40994084,Intron,SNP,T,C,,16,231,0,48
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RAD51,5888,15,40994106,40994106,Intron,SNP,C,T,,9,134,0,43
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PPP1R14D,54866,15,41109471,41109471,Intron,SNP,A,C,,18,212,1,44
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NUSAP1,51203,15,41637734,41637734,Intron,SNP,C,T,,8,51,0,30
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NDUFAF1,51103,15,41686319,41686319,Intron,SNP,T,C,,4,20,0,19
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MGA,23269,15,42028666,42028666,Missense_Mutation,SNP,T,A,c.(4204-4206)Tgt>Agt,6,44,0,131
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SHC4,399694,15,49135728,49135728,Missense_Mutation,SNP,G,A,c.(1360-1362)aCg>aTg,14,45,0,97
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FAM214A,56204,15,52921853,52921853,Intron,SNP,T,G,,12,222,0,59
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RNF111,54778,15,59385690,59385690,Intron,SNP,G,A,,8,87,0,71
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HERC1,8925,15,63955270,63955270,Silent,SNP,C,T,c.(8812-8814)gcG>gcA,8,85,0,165
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HERC1,8925,15,63955273,63955273,Silent,SNP,C,T,c.(8809-8811)gaG>gaA,9,81,0,167
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SNX1,6642,15,64407870,64407870,Intron,SNP,T,C,,6,42,0,16
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CSNK1G1,53944,15,64495365,64495365,Silent,SNP,G,A,c.(1021-1023)caC>caT,11,124,1,199
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CSNK1G1,53944,15,64495374,64495374,Silent,SNP,C,T,c.(1012-1014)ggG>ggA,8,100,0,180
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF609,23060,15,64791641,64791641,Missense_Mutation,SNP,C,G,c.(22-24)tCc>tGc,4,10,0,51
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF609,23060,15,64791843,64791843,Silent,SNP,G,C,c.(223-225)gtG>gtC,5,64,0,126
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,OAZ2,4947,15,64982650,64982650,Silent,SNP,A,G,c.(274-276)tcT>tcC,9,80,0,113
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RPLP1,6176,15,69751164,69751164,IGR,SNP,T,C,,12,66,0,36
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CCDC33,80125,15,74536069,74536069,Intron,SNP,A,G,,12,219,0,128
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PSMA4,5685,15,78838055,78838055,Silent,SNP,T,A,c.(454-456)ccT>ccA,8,126,0,145
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ST20,400410,15,80199984,80199984,Missense_Mutation,SNP,A,G,c.(31-33)gTc>gCc,17,233,0,64
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DNM1P46,196968,15,100330445,100330445,RNA,SNP,T,C,,11,158,0,44
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DNM1P46,196968,15,100330467,100330467,RNA,SNP,T,C,,9,129,0,47
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DNM1P46,196968,15,100330531,100330531,RNA,SNP,T,C,,9,80,0,43
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TPSAB1,7177,16,1293095,1293095,IGR,SNP,C,T,,10,135,0,47
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RAB26,25837,16,2201152,2201152,Intron,SNP,T,A,,16,181,0,71
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C16orf89,146556,16,5094586,5094586,Nonstop_Mutation,SNP,A,G,c.(1207-1209)Tag>Cag,17,174,0,132
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C16orf89,146556,16,5094778,5094778,Silent,SNP,A,G,c.(1015-1017)Ttg>Ctg,9,118,0,52
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C16orf89,146556,16,5094809,5094809,Silent,SNP,T,C,c.(982-984)gtA>gtG,15,178,1,56
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C16orf62,57020,16,19589635,19589635,Intron,SNP,A,G,,34,273,0,95
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DCTN5,84516,16,23668847,23668847,Intron,SNP,C,T,,8,98,0,24
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CCDC101,112869,16,28600017,28600017,Intron,SNP,G,C,,6,38,0,37
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PRR14,78994,16,30663647,30663647,Intron,SNP,A,G,,20,271,0,78
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PRR14,78994,16,30663648,30663648,Intron,SNP,T,C,,19,263,0,76
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FUS,2521,16,31204470,31204470,IGR,SNP,T,C,,5,31,1,51
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RBL2,5934,16,53488178,53488178,Intron,SNP,A,G,,12,172,0,48
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RPGRIP1L,23322,16,53656162,53656162,Missense_Mutation,SNP,T,G,c.(3400-3402)gAt>gCt,18,220,1,65
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RPGRIP1L,23322,16,53656168,53656168,Missense_Mutation,SNP,T,C,c.(3394-3396)cAa>cGa,16,216,1,65
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RPGRIP1L,23322,16,53656186,53656186,Missense_Mutation,SNP,A,G,c.(3376-3378)tTt>tCt,15,241,1,64
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RPGRIP1L,23322,16,53656211,53656211,Missense_Mutation,SNP,A,G,c.(3352-3354)Ttc>Ctc,18,318,0,92
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NUP93,9688,16,56876516,56876516,Intron,SNP,A,G,,21,433,0,146
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CDH11,1009,16,65032706,65032706,Silent,SNP,C,T,c.(280-282)ggG>ggA,27,42,0,192
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DYNC1LI2,1783,16,66785451,66785451,Missense_Mutation,SNP,T,C,c.(43-45)aAc>aGc,79,578,1,144
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,VPS4A,27183,16,69357589,69357589,Intron,SNP,C,A,,14,223,0,81
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AP1G1,164,16,71823317,71823317,Silent,SNP,T,C,c.(64-66)gaA>gaG,9,128,0,201
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZFHX3,463,16,72827578,72827578,Silent,SNP,T,C,c.(9001-9003)gaA>gaG,6,73,0,167
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZFHX3,463,16,72827584,72827584,Silent,SNP,T,C,c.(8995-8997)gcA>gcG,5,59,0,162
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GABARAPL2,11345,16,75611228,75611228,Silent,SNP,A,G,c.(313-315)ttA>ttG,7,101,0,138
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ADAT1,23536,16,75632224,75632224,IGR,SNP,G,A,,5,53,0,40
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ADAT1,23536,16,75653579,75653579,Intron,SNP,T,C,,5,47,0,48
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CNTNAP4,85445,16,76389306,76389306,Silent,SNP,T,A,c.(295-297)acT>acA,11,69,0,132
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LINC00917,732275,16,86371208,86371208,lincRNA,SNP,G,A,,6,19,0,103
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF469,84627,16,88505476,88505476,Missense_Mutation,SNP,C,A,c.(11512-11514)agC>agA,111,150,0,244
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ANKRD11,29123,16,89484690,89484690,Splice_Site,SNP,A,G,c.e2+1,6,28,0,55
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CDK10,8558,16,89754106,89754106,Intron,SNP,A,G,,8,76,0,37
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RPAIN,84268,17,5328765,5328765,Intron,SNP,T,C,,5,17,0,12
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TMEM256-PLSCR3,100529211,17,7294069,7294069,Missense_Mutation,SNP,G,T,c.(643-645)Cag>Aag,11,193,0,186
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MYH4,4622,17,10368843,10368843,Missense_Mutation,SNP,T,C,c.(421-423)Aca>Gca,9,174,0,219
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RPL23,9349,17,37004296,37004296,3'UTR,SNP,T,G,,11,95,0,57
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CDK12,51755,17,37650866,37650866,Nonsense_Mutation,SNP,C,T,c.(2338-2340)Cag>Tag,15,139,0,122
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CDK12,51755,17,37676256,37676256,Missense_Mutation,SNP,A,G,c.(3010-3012)gAt>gGt,69,67,0,151
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NKIRAS2,28511,17,40175058,40175058,Intron,SNP,C,T,,11,56,0,10
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AARSD1,80755,17,41114201,41114201,Intron,SNP,T,C,,12,189,0,40
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NPEPPS,9520,17,45662889,45662889,Silent,SNP,C,T,c.(670-672)taC>taT,6,58,0,111
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SNF8,11267,17,47011874,47011874,Intron,SNP,A,G,,7,46,0,9
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SPAG9,9043,17,49042149,49042149,3'UTR,SNP,C,T,,13,244,0,49
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PLEKHM1P,440456,17,62816606,62816606,RNA,SNP,G,A,,5,42,0,23
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RP11-1055B8.7,0,17,79413844,79413844,Intron,SNP,T,G,,20,137,0,69
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RP11-1055B8.7,0,17,79413845,79413845,Intron,SNP,T,C,,21,130,0,69
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NARF,26502,17,80441102,80441102,Intron,SNP,A,G,,9,128,0,32
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TMEM200C,645369,18,5891405,5891405,Missense_Mutation,SNP,C,A,c.(658-660)Gcc>Tcc,21,27,0,44
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,IMPA2,3613,18,12017706,12017706,Intron,SNP,T,G,,6,50,0,29
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MEX3C,51320,18,48702856,48702856,5'Flank,SNP,C,T,,7,86,0,131
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BSG,682,19,579017,579017,Intron,SNP,T,A,,15,226,0,96
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CNN2,1265,19,1036922,1036922,Intron,SNP,G,A,,5,32,0,11
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MBD3,53615,19,1575235,1575235,IGR,SNP,A,C,,14,122,0,49
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TBXA2R,6915,19,3594948,3594948,3'UTR,SNP,T,C,,27,450,0,127
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,STAP2,55620,19,4324594,4324594,Intron,SNP,T,C,,9,67,0,26
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HDGFRP2,0,19,4496940,4496940,Intron,SNP,A,G,,14,208,0,40
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HDGFRP2,0,19,4496974,4496974,Intron,SNP,G,A,,8,73,0,35
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HDGFRP2,0,19,4497122,4497122,Intron,SNP,A,G,,18,193,0,34
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CATSPERD,257062,19,5772184,5772184,Intron,SNP,A,G,,23,454,0,65
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CATSPERD,257062,19,5772269,5772269,Intron,SNP,C,T,,8,39,0,14
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NDUFA11,126328,19,5893211,5893211,IGR,SNP,A,G,,13,187,0,105
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC25A41,284427,19,6430599,6430599,Intron,SNP,G,A,,9,82,0,22
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KANK2,25959,19,11303353,11303353,Intron,SNP,T,C,,4,20,0,19
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF788,388507,19,12204966,12204966,Intron,SNP,T,C,,14,226,0,52
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF709,163051,19,12661357,12661357,Intron,SNP,T,C,,12,129,0,26
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DHPS,1725,19,12791909,12791909,Intron,SNP,A,G,,18,212,0,55
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RTBDN,83546,19,12937308,12937308,Intron,SNP,A,G,,4,7,0,10
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,IL12RB1,3594,19,18182075,18182075,Intron,SNP,G,A,,12,83,0,44
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF626,199777,19,20807184,20807184,Missense_Mutation,SNP,T,C,c.(1498-1500)gAg>gGg,5,57,1,94
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF99,7652,19,22936998,22936998,IGR,SNP,G,A,,7,76,0,50
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF99,7652,19,22937025,22937025,IGR,SNP,T,C,,17,168,0,51
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF91,7644,19,23542226,23542226,Silent,SNP,T,C,c.(3553-3555)acA>acG,3,2,0,20
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AC002511.1,0,19,35899037,35899037,lincRNA,SNP,T,C,,8,88,0,66
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UPK1A,11045,19,36167146,36167146,Intron,SNP,A,G,,15,160,0,40
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,U2AF1L4,199746,19,36234179,36234179,Intron,SNP,A,C,,11,119,0,16
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZFP14,57677,19,36831321,36831321,Silent,SNP,T,C,c.(1405-1407)caA>caG,5,17,1,70
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AC092295.7,0,19,37068146,37068146,RNA,SNP,A,G,,8,96,0,59
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF829,374899,19,37382880,37382880,Silent,SNP,T,C,c.(811-813)aaA>aaG,6,10,0,56
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HKR1,284459,19,37850414,37850414,Intron,SNP,C,T,,9,62,0,30
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HKR1,284459,19,37850511,37850511,Intron,SNP,G,A,,6,12,0,11
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RYR1,6261,19,38993304,38993304,Missense_Mutation,SNP,G,A,c.(7771-7773)cGg>cAg,51,391,0,238
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ACTN4,81,19,39208905,39208905,Intron,SNP,A,G,,7,118,0,54
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HNRNPUL1,11100,19,41808403,41808403,Intron,SNP,C,T,,6,45,0,40
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CEACAM1,634,19,43020934,43020934,Intron,SNP,T,C,,8,37,0,27
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DACT3,147906,19,47152993,47152993,Silent,SNP,G,A,c.(634-636)gcC>gcT,27,63,0,8
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BAX,581,19,49463536,49463536,Intron,SNP,T,C,,25,492,0,93
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BAX,581,19,49463559,49463559,Intron,SNP,A,T,,20,197,0,67
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF766,90321,19,52784686,52784686,Intron,SNP,T,C,,6,49,0,9
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF766,90321,19,52791336,52791336,Intron,SNP,T,C,,6,57,0,26
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF880,400713,19,52882774,52882774,Intron,SNP,C,A,,10,149,0,41
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF611,81856,19,53208578,53208578,Missense_Mutation,SNP,T,C,c.(1729-1731)cAc>cGc,8,36,1,133
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF813,126017,19,53995277,53995277,Silent,SNP,T,C,c.(1789-1791)caT>caC,6,74,1,129
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BRSK1,84446,19,55816930,55816930,Silent,SNP,A,G,c.(1864-1866)gcA>gcG,7,115,0,97
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF667,63934,19,56960983,56960983,Intron,SNP,G,A,,8,80,0,24
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ATRN,8455,20,3596468,3596468,Intron,SNP,T,C,,13,284,0,130
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C20orf196,149840,20,5752774,5752774,Intron,SNP,A,G,,7,58,0,37
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MCM8,84515,20,5953249,5953249,Intron,SNP,A,G,,8,79,0,42
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PLAGL2,5326,20,30789955,30789955,Silent,SNP,G,A,c.(25-27)ccC>ccT,5,54,0,125
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NFS1,9054,20,34280181,34280181,Intron,SNP,G,A,,9,99,0,37
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NFS1,9054,20,34280228,34280228,Intron,SNP,A,G,,9,151,0,44
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RBM39,9584,20,34327408,34327408,Intron,SNP,C,A,,21,135,0,150
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BCAS4,55653,20,49492613,49492613,Missense_Mutation,SNP,A,G,c.(568-570)cAa>cGa,6,53,0,61
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LAMA5,3911,20,60917273,60917273,Intron,SNP,C,T,,8,34,0,19
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C21orf37,100505929,21,18816429,18816429,Missense_Mutation,SNP,A,G,c.(91-93)tAc>tGc,13,243,0,80
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CHAF1B,8208,21,37788102,37788102,Intron,SNP,A,G,,16,93,0,11
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TMPRSS3,64699,21,43792656,43792656,3'UTR,SNP,G,A,,14,245,0,113
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UBASH3A,53347,21,43833526,43833526,Silent,SNP,C,T,c.(559-561)tcC>tcT,20,30,0,55
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PKNOX1,5316,21,44452249,44452249,3'UTR,SNP,T,C,,14,125,0,44
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CBS,875,21,44479422,44479422,Intron,SNP,T,A,,13,224,0,229
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PDXK,8566,21,45156866,45156866,Intron,SNP,C,A,,35,633,0,188
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AIRE,326,21,45709690,45709690,Intron,SNP,G,A,,40,279,0,169
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,S100B,6285,21,48020193,48020193,Intron,SNP,A,G,,8,37,0,25
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ATP6V1E1,529,22,18101798,18101798,Intron,SNP,A,G,,20,348,0,126
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ATP6V1E1,529,22,18101870,18101870,Intron,SNP,C,T,,7,70,0,67
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BCL2L13,23786,22,18167391,18167391,Intron,SNP,A,G,,31,280,0,149
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MICAL3,57553,22,18317238,18317238,Intron,SNP,G,T,,13,184,0,96
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF74,7625,22,20753921,20753921,Intron,SNP,C,T,,8,87,0,25
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF74,7625,22,20753922,20753922,Intron,SNP,G,A,,10,82,0,24
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF74,7625,22,20753924,20753924,Intron,SNP,A,G,,8,76,0,22
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,THAP7,80764,22,21357070,21357070,5'Flank,SNP,A,G,,9,157,0,44
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PPIL2,23759,22,22039997,22039997,3'UTR,SNP,G,C,,12,134,0,78
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PPIL2,23759,22,22040008,22040008,3'UTR,SNP,A,G,,8,104,1,71
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,IGLL1,3543,22,23915617,23915617,Missense_Mutation,SNP,C,T,c.(478-480)Gtg>Atg,71,259,0,434
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC2A11,66035,22,24225194,24225194,Intron,SNP,G,T,,8,31,0,48
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SPECC1L,23384,22,24739521,24739521,Intron,SNP,T,C,,9,151,0,55
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,YWHAH,7533,22,32352608,32352608,Silent,SNP,T,A,c.(568-570)ccT>ccA,8,126,0,182
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,YWHAH,7533,22,32352669,32352669,Silent,SNP,C,T,c.(631-633)Cta>Tta,9,155,0,194
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MGAT3,4248,22,39882256,39882256,Intron,SNP,A,G,,13,97,0,36
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TNRC6B,23112,22,40662958,40662958,Silent,SNP,T,C,c.(2722-2724)aaT>aaC,5,43,0,50
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TNRC6B,23112,22,40706951,40706951,Silent,SNP,A,G,c.(4387-4389)ccA>ccG,7,82,0,100
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TNRC6B,23112,22,40706954,40706954,Silent,SNP,A,T,c.(4390-4392)acA>acT,7,78,0,93
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,XPNPEP3,63929,22,41284428,41284428,Intron,SNP,T,A,,14,226,0,61
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,XPNPEP3,63929,22,41303196,41303196,Intron,SNP,T,C,,5,56,0,51
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,EP300,2033,22,41513660,41513660,Silent,SNP,T,C,c.(562-564)ccT>ccC,7,117,0,229
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SCUBE1,80274,22,43651501,43651501,Intron,SNP,T,G,,8,134,1,155
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SCUBE1,80274,22,43651587,43651587,Intron,SNP,A,G,,6,88,0,132
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CSF2RA,1438,X,1428508,1428508,3'UTR,SNP,G,A,,9,147,0,144
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CSF2RA,1438,X,1428555,1428555,3'UTR,SNP,G,A,,4,23,0,67
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CXorf23,256643,X,19948752,19948752,Intron,SNP,T,C,,10,110,0,32
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PTCHD1,139411,X,23411996,23411996,Silent,SNP,A,T,c.(2359-2361)gtA>gtT,7,45,0,94
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF674,641339,X,46384776,46384776,Intron,SNP,A,G,,8,75,0,24
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PQBP1,10084,X,48758882,48758882,Intron,SNP,G,A,,9,51,0,13
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HUWE1,10075,X,53571675,53571675,Silent,SNP,A,G,c.(11095-11097)ccT>ccC,5,19,0,80
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PGK1,5230,X,77378760,77378760,Silent,SNP,G,A,c.(823-825)aaG>aaA,8,50,0,83
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PGK1,5230,X,77378808,77378808,Silent,SNP,G,A,c.(871-873)aaG>aaA,8,69,0,95
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HNRNPH2,3188,X,100667051,100667051,Missense_Mutation,SNP,T,G,c.(73-75)gaT>gaG,7,99,0,76
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RP1-241P17.4,0,X,114953538,114953538,Silent,SNP,T,C,c.(10-12)gaA>gaG,6,30,0,60
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC25A14,9016,X,129493064,129493064,Intron,SNP,T,C,,7,121,0,66
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SPANXN2,494119,X,142795249,142795249,Silent,SNP,T,A,c.(427-429)tcA>tcT,22,44,0,218
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FAM3A,60343,X,153740670,153740670,Intron,SNP,C,G,,10,183,0,21
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GAB3,139716,X,153907410,153907410,Intron,SNP,A,G,,5,35,0,24
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KIF1B,23095,1,10364816,10364817,Intron,INS,-,C,,3,2,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CLCN6,1185,1,11889221,11889222,Intron,INS,-,C,,4,16,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CROCCP2,84809,1,16952573,16952574,lincRNA,INS,-,AGCT,,5,4,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,EPHB2,2048,1,23191850,23191850,Intron,DEL,A,-,,6,5,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NIPAL3,57185,1,24780692,24780693,Intron,INS,-,T,,54,2,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RIMS3,9783,1,41094384,41094385,Intron,INS,-,T,,16,12,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SZT2,23334,1,43886747,43886748,Intron,INS,-,G,,6,10,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BTBD19,149478,1,45277902,45277905,Intron,DEL,CCAA,-,,5,1,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NDC1,55706,1,54284820,54284821,Intron,INS,-,C,,4,26,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FUBP1,8880,1,78413316,78413317,IGR,DEL,AA,-,,4,9,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PDE4DIP,9659,1,144874999,144875002,Intron,DEL,GGAC,-,,1,4,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,VANGL2,57216,1,160390119,160390120,Intron,INS,-,T,,4,7,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CD247,919,1,167404770,167404771,Intron,INS,-,A,,3,9,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ASPM,259266,1,197072310,197072312,In_Frame_Del,DEL,ACA,-,c.(6067-6072)gctgta>gca,3,23,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CAMSAP2,23271,1,200826564,200826565,Intron,INS,-,G,,4,14,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PKP1,5317,1,201262936,201262937,Intron,INS,-,T,,5,1,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,OPTC,26254,1,203469109,203469111,Intron,DEL,CAT,-,,5,5,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ATP2B4,493,1,203691519,203691521,Intron,DEL,ATA,-,,6,2,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NFASC,23114,1,204937889,204937891,Intron,DEL,TAG,-,,3,3,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CLIP4,79745,2,29380019,29380022,Intron,DEL,TTGG,-,,5,25,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,OXER1,165140,2,42991122,42991123,Frame_Shift_Ins,INS,-,A,c.(196-198)tccfs,14,89,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LRPPRC,10128,2,44161240,44161240,Intron,DEL,A,-,,3,2,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CCDC85A,114800,2,56420346,56420351,In_Frame_Del,DEL,GCATCT,-,c.(1009-1017)gagcatctt>gat,4,106,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CD8A,925,2,87015842,87015843,Intron,INS,-,AG,,4,2,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CLASP1,23332,2,122218636,122218637,Intron,INS,-,T,,5,30,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LRP1B,53353,2,141747239,141747240,Intron,INS,-,A,,3,18,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NEB,4703,2,152490167,152490168,Intron,INS,-,T,,6,2,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GULP1,51454,2,189447047,189447048,Intron,INS,-,CCA,,4,6,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MDH1B,130752,2,207621591,207621592,Intron,INS,-,G,,4,17,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UNC80,285175,2,210834451,210834451,Intron,DEL,A,-,,4,10,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CCDC108,255101,2,219868948,219868948,Frame_Shift_Del,DEL,C,-,c.(5281-5283)gaafs,20,92,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF621,285268,3,40573561,40573562,Frame_Shift_Del,DEL,GC,-,c.(298-303)aagcagfs,5,18,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,OR5K4,403278,3,98073501,98073505,Frame_Shift_Del,DEL,TACAC,-,c.(802-810)gatacaccafs,5,93,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PLS1,5357,3,142430677,142430678,Intron,INS,-,A,,5,6,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PLCH1,23007,3,155211877,155211878,Intron,INS,-,T,,4,7,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CLDN16,10686,3,190127607,190127608,Intron,DEL,TT,-,,4,2,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UTS2B,257313,3,190991186,190991186,Intron,DEL,T,-,,5,1,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ATP13A4,84239,3,193272435,193272435,Intron,DEL,A,-,,25,48,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RNF168,165918,3,196210585,196210586,Intron,INS,-,G,,4,14,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PHOX2B,8929,4,41749845,41749847,Intron,DEL,AGA,-,,5,4,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MUC7,4589,4,71347383,71347385,In_Frame_Del,DEL,ATT,-,c.(922-924)attdel,34,43,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BMP2K,55589,4,79799814,79799814,Intron,DEL,T,-,,4,2,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TMEM184C,55751,4,148552785,148552786,Intron,INS,-,TC,,6,2,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GPM6A,2823,4,176561801,176561802,Intron,INS,-,T,,4,3,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,OSMR,9180,5,38917808,38917809,Intron,INS,-,A,,7,12,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CMYA5,202333,5,79034468,79034468,Frame_Shift_Del,DEL,A,-,c.(9880-9882)agtfs,5,15,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RASA1,5921,5,86679692,86679693,Intron,INS,-,C,,4,3,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C5orf48,0,5,125971787,125971791,Frame_Shift_Del,DEL,GAAAG,-,c.(259-264)gaaaggfs,4,175,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C5orf56,441108,5,131796512,131796512,Frame_Shift_Del,DEL,A,-,c.(346-348)catfs,8,31,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FGFR4,2264,5,176517248,176517249,Intron,INS,-,T,,23,206,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TREM2,54209,6,41130647,41130647,Intron,DEL,T,-,,12,25,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC29A1,2030,6,44197581,44197582,Intron,INS,-,G,,3,18,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GCLC,2729,6,53371637,53371641,Intron,DEL,TGCAT,-,,6,10,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SNHG5,387066,6,86387002,86387006,RNA,DEL,ATAAC,-,,5,67,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,Unknown,0,6,139048671,139048672,IGR,INS,-,C,,3,55,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PACRG,135138,6,163612091,163612091,Intron,DEL,A,-,,3,0,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GET4,51608,7,926149,926150,Intron,INS,-,G,,10,14,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TNRC18,84629,7,5399049,5399050,Frame_Shift_Ins,INS,-,G,c.(4810-4815)gcctcgfs,9,62,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ANKMY2,57037,7,16642191,16642193,Intron,DEL,AAC,-,,4,3,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BMPER,168667,7,34101523,34101524,Intron,INS,-,G,,3,2,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MYO1G,64005,7,45014952,45014954,Intron,DEL,CCC,-,,4,2,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FIGNL1,63979,7,50513896,50513897,Frame_Shift_Ins,INS,-,A,c.(1087-1092)gcaggafs,4,7,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AUTS2,26053,7,70229881,70229881,Frame_Shift_Del,DEL,A,-,c.(1357-1359)cacfs,22,57,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,WBSCR17,64409,7,71176924,71176924,Intron,DEL,T,-,,9,48,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZKSCAN1,7586,7,99630937,99630938,Frame_Shift_Ins,INS,-,C,c.(808-813)aacaggfs,22,15,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AHCYL2,23382,7,129017362,129017367,Intron,DEL,ATTAGT,-,,3,71,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MKRN1,23608,7,140159784,140159785,Intron,DEL,AG,-,,5,3,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF783,100289678,7,148963848,148963849,Intron,INS,-,C,,8,25,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ABCF2,10061,7,150916068,150916069,Intron,INS,-,G,,6,10,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,VPS37A,137492,8,17105952,17105952,Intron,DEL,A,-,,6,71,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC7A2,6542,8,17409229,17409230,Intron,DEL,GA,-,,5,4,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KAT6A,7994,8,41791930,41791931,In_Frame_Ins,INS,-,TGG,c.(3805-3810)gaggtg>gagCCAgtg,27,65,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RRM2B,50484,8,103225246,103225247,Intron,INS,-,A,,3,1,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PSIP1,11168,9,15474217,15474218,Frame_Shift_Ins,INS,-,C,c.(646-648)aaafs,5,32,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,IFT74,80173,9,26980434,26980435,Intron,INS,-,TA,,9,7,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CCDC180,100499483,9,100057147,100057147,Frame_Shift_Del,DEL,A,-,c.(271-273)atgfs,7,52,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TMEM245,23731,9,111853441,111853442,Intron,INS,-,T,,3,5,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CDK5RAP2,55755,9,123291128,123291128,Intron,DEL,C,-,,5,29,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NUP214,8021,9,134019720,134019721,Frame_Shift_Ins,INS,-,C,c.(1348-1350)tctfs,9,64,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MPP7,143098,10,28345283,28345284,Intron,INS,-,TG,,8,3,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GJD4,219770,10,35897234,35897234,Frame_Shift_Del,DEL,C,-,c.(793-795)cccfs,17,43,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,OPN4,94233,10,88419819,88419835,Intron,DEL,AAGCAGTGGCTAAAGGG,-,,18,29,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LIPN,643418,10,90521131,90521132,5'Flank,INS,-,G,,5,25,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KIF11,3832,10,94410125,94410125,Intron,DEL,G,-,,6,23,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PRDX3,10935,10,120938409,120938410,5'Flank,INS,-,AGT,,7,18,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,WDR11,55717,10,122659739,122659743,Intron,DEL,TAAAG,-,,4,6,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BUB3,9184,10,124917224,124917227,Intron,DEL,CCCC,-,,4,1,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,JAKMIP3,282973,10,133980447,133980448,Intron,INS,-,AG,,8,10,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CHID1,66005,11,914609,914610,Intron,INS,-,T,,4,35,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MUC2,4583,11,1089090,1089091,Intron,INS,-,A,,11,10,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KRTAP5-1,387264,11,1605942,1605943,In_Frame_Ins,INS,-,GCC,c.(535-540)tcctgt>tccGGCtgt,9,73,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TRIM68,55128,11,4626333,4626334,Frame_Shift_Del,DEL,CA,-,c.(400-402)atgfs,4,20,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,OR51H1P,401663,11,4881357,4881358,Frame_Shift_Ins,INS,-,AT,c.(436-438)actfs,5,14,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NLRP14,338323,11,7091447,7091447,Intron,DEL,C,-,,5,9,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,Unknown,0,11,49103648,49103650,IGR,DEL,TTA,-,,3,16,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,OR5B12,390191,11,58207075,58207077,In_Frame_Del,DEL,TCA,-,c.(547-552)ttgact>tct,4,16,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NRXN2,9379,11,64419696,64419697,Intron,DEL,GA,-,,6,4,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RASGRP2,10235,11,64509156,64509157,Intron,DEL,CT,-,,0,5,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,LTBP3,4054,11,65319301,65319302,Intron,INS,-,AG,,8,4,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BBS1,582,11,66297196,66297197,Intron,INS,-,T,,8,32,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C11orf80,79703,11,66515816,66515817,Intron,INS,-,G,,4,7,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DSCAML1,57453,11,117299241,117299242,Frame_Shift_Ins,INS,-,A,c.(6142-6147)cccggcfs,3,0,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ROBO4,54538,11,124766707,124766708,Intron,INS,-,C,,3,2,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,A2ML1,144568,12,9001306,9001307,Intron,INS,-,A,,4,5,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PPHLN1,51535,12,42826069,42826070,Intron,INS,-,C,,4,2,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,AQP2,359,12,50348248,50348249,Intron,INS,-,A,,8,22,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PAN2,9924,12,56716743,56716744,Intron,INS,-,T,,11,12,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NAP1L1,4673,12,76442157,76442158,3'UTR,INS,-,T,,6,7,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CCER1,196477,12,91347677,91347678,Frame_Shift_Ins,INS,-,T,c.(841-843)gagfs,10,32,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HSP90B1,7184,12,104341113,104341115,In_Frame_Del,DEL,CCT,-,c.(2287-2289)cctdel,6,23,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TXNRD1,7296,12,104713469,104713470,Intron,INS,-,CA,,3,2,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TMEM116,89894,12,112371653,112371654,Intron,INS,-,CA,,5,12,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RPH3A,22895,12,113312851,113312852,Intron,INS,-,CTATGGGTATGTG,,3,42,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BRCA2,675,13,32907419,32907420,Frame_Shift_Del,DEL,GG,-,c.(1804-1806)ggafs,6,9,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZC3H13,23091,13,46543792,46543794,In_Frame_Del,DEL,GAA,-,c.(2884-2889)attcaa>aaa,3,9,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,Unknown,0,13,52412559,52412560,IGR,INS,-,G,,3,23,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ATP7B,540,13,52516793,52516794,Intron,INS,-,G,,6,10,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TRAV18,28665,14,22470650,22470650,RNA,DEL,G,-,,3,8,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FOXA1,3169,14,38061221,38061221,Frame_Shift_Del,DEL,G,-,c.(766-768)aacfs,100,68,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PYGL,5836,14,51375787,51375787,Intron,DEL,A,-,,5,1,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MAP3K9,4293,14,71206586,71206586,Intron,DEL,A,-,,5,8,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NRXN3,9369,14,79081271,79081272,Intron,DEL,AG,-,,3,23,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TSHR,7253,14,81610487,81610488,Frame_Shift_Ins,INS,-,AT,c.(2086-2088)tttfs,3,16,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZC3H14,79882,14,89073768,89073769,Intron,INS,-,AGTG,,3,13,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MIR381HG,378881,14,101513556,101513557,lincRNA,INS,-,T,,6,40,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HAUS2,55142,15,42853109,42853110,Intron,DEL,GG,-,,7,16,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DUOX2,50506,15,45391749,45391750,Intron,INS,-,A,,3,12,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PYGO1,26108,15,55838236,55838237,In_Frame_Ins,INS,-,CAT,c.(1243-1245)gtg>gtATGg,3,5,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC24A1,9187,15,65943114,65943119,In_Frame_Del,DEL,AAGAGC,-,c.(2626-2634)gaagagcag>gag,27,89,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BLM,641,15,91354341,91354342,Intron,INS,-,C,,4,10,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KIAA0430,9665,16,15696436,15696437,Intron,DEL,AT,-,,5,85,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,NDE1,54820,16,15758790,15758791,Intron,INS,-,G,,3,4,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C16orf62,57020,16,19638927,19638928,Intron,INS,-,T,,5,3,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,YPEL3,83719,16,30106278,30106279,Intron,DEL,AG,-,,5,9,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SETD1A,9739,16,30982905,30982906,Frame_Shift_Ins,INS,-,CAGCT,c.(3223-3225)cccfs,8,280,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FUS,2521,16,31202314,31202315,In_Frame_Ins,INS,-,GGA,c.(1423-1428)ggcaga>ggGGAcaga,13,55,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CYLD,1540,16,50818159,50818161,Intron,DEL,TCC,-,,4,9,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC9A5,6553,16,67286497,67286497,Frame_Shift_Del,DEL,G,-,c.(238-240)ctgfs,7,37,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TANGO6,79613,16,68934308,68934309,Intron,INS,-,GTGC,,6,11,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF19,7567,16,71509609,71509610,Frame_Shift_Ins,INS,-,T,c.(838-843)aaagctfs,5,7,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,HPR,3250,16,72107674,72107675,Intron,INS,-,AC,,45,120,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GSE1,23199,16,85682289,85682290,Frame_Shift_Ins,INS,-,C,c.(358-360)accfs,22,46,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CTD-2555A7.2,0,16,89119193,89119198,lincRNA,DEL,TATTCT,-,,9,106,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ANKRD11,29123,16,89350559,89350560,Frame_Shift_Ins,INS,-,CC,c.(2389-2391)gaafs,5,13,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ALOX12B,242,17,7976761,7976762,Intron,INS,-,C,,4,6,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KIAA0100,9703,17,26955307,26955308,Frame_Shift_Ins,INS,-,A,c.(4567-4572)ggacaafs,5,24,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ACACA,31,17,35446130,35446132,Intron,DEL,TCA,-,,4,13,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RARA,5914,17,38512652,38512652,3'UTR,DEL,G,-,,10,27,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KRT26,353288,17,38927933,38927935,In_Frame_Del,DEL,TAA,-,c.(430-435)cttaaa>caa,5,6,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KRT9,3857,17,39723932,39723933,In_Frame_Ins,INS,-,CCCACT,c.(1462-1467)ggatcc>ggaAGTGGGtcc,8,30,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PTGES3L,100885848,17,41122417,41122417,Intron,DEL,A,-,,3,24,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MPP3,4356,17,41891726,41891727,Frame_Shift_Ins,INS,-,T,c.(1012-1014)ggtfs,6,28,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GFAP,2670,17,42990990,42990990,Intron,DEL,T,-,,4,11,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,COIL,8161,17,55028040,55028041,Frame_Shift_Ins,INS,-,G,c.(562-564)aagfs,8,31,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FTSJ3,117246,17,61901450,61901451,Frame_Shift_Del,DEL,AA,-,c.(1147-1149)ttgfs,8,44,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FLJ45079,0,17,75878048,75878049,Frame_Shift_Ins,INS,-,AA,c.(424-426)tgcfs,6,47,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ATCAY,85300,19,3895253,3895254,Intron,INS,-,C,,6,25,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,OR7G3,390883,19,9236939,9236939,Frame_Shift_Del,DEL,A,-,c.(688-690)tcafs,29,88,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF846,162993,19,9875510,9875511,Intron,INS,-,T,,3,2,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,MIR24-2,407013,19,13947073,13947074,lincRNA,DEL,GG,-,,5,49,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,CYP4F8,11283,19,15729137,15729137,RNA,DEL,G,-,,18,36,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SLC27A1,376497,19,17615693,17615693,3'UTR,DEL,T,-,,20,116,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,UNC13A,23025,19,17766980,17766985,In_Frame_Del,DEL,AGGAAG,-,c.(988-996)gacttcctg>gag,6,58,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FKBP8,23770,19,18652477,18652478,Intron,INS,-,C,,12,18,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,VSTM2B,342865,19,30054685,30054686,Intron,DEL,GT,-,,8,7,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,ZNF383,163087,19,37721440,37721441,Intron,DEL,TA,-,,7,17,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,RYR1,6261,19,38948575,38948575,Intron,DEL,T,-,,12,16,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,PRKD2,25865,19,47200302,47200302,Intron,DEL,C,-,,8,29,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,KCNJ14,3770,19,48967393,48967394,Intron,INS,-,C,,6,3,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,FUT1,2523,19,49254370,49254371,Frame_Shift_Ins,INS,-,A,c.(166-171)tgcctgfs,13,21,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,TULP2,7288,19,49391520,49391520,Splice_Site,DEL,T,-,c.e8-2,3,7,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SIGLEC6,946,19,52031553,52031557,Intron,DEL,TCCTC,-,,4,20,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,SSC5D,284297,19,56029967,56029968,Frame_Shift_Ins,INS,-,A,c.(4324-4326)cttfs,10,4,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,C20orf194,25943,20,3240006,3240007,Intron,INS,-,AT,,3,0,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,BFSP1,631,20,17475641,17475642,Frame_Shift_Ins,INS,-,T,c.(1075-1077)gcafs,3,12,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GDAP1L1,78997,20,42908158,42908159,3'UTR,DEL,GA,-,,5,26,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,GID8,54994,20,61576258,61576259,Frame_Shift_Ins,INS,-,A,c.(682-684)aagfs,4,24,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,H1F0,3005,22,38202083,38202088,In_Frame_Del,DEL,CCAGTG,-,c.(532-537)ccagtgdel,5,93,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DCAF8L1,139425,X,27999124,27999125,In_Frame_Ins,INS,-,TGT,c.(325-330)gaggaa>gagACAgaa,4,19,,
RP-1532_PCProject_0588_T2_v2_Exome_OnPrem,DKC1,1736,X,153996461,153996465,Intron,DEL,AAGAA,-,,7,11,,
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,C1orf159,54991,1,1026256,1026256,Splice_Site,SNP,G,A,c.(178-180)acC>acT,7,479,0,252
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CPSF3L,54973,1,1248422,1248422,Missense_Mutation,SNP,C,T,c.(1123-1125)cGg>cAg,8,458,1,206
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ATAD3C,219293,1,1403815,1403815,Missense_Mutation,SNP,G,A,c.(1141-1143)Gcc>Acc,7,300,1,155
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,C1orf233,643988,1,1535142,1535142,Missense_Mutation,SNP,C,T,c.(253-255)cGc>cAc,5,49,0,53
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PRDM16,63976,1,3319540,3319540,Missense_Mutation,SNP,C,T,c.(862-864)Cgg>Tgg,8,332,0,153
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,AJAP1,55966,1,4772348,4772348,Missense_Mutation,SNP,G,A,c.(418-420)Gcg>Acg,3,11,0,21
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RERE,473,1,8601292,8601292,Missense_Mutation,SNP,C,T,c.(811-813)Gga>Aga,4,77,0,38
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,VPS13D,55187,1,12476832,12476832,Silent,SNP,G,A,c.(12283-12285)ggG>ggA,4,120,0,50
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SPEN,23013,1,16255132,16255132,Silent,SNP,G,A,c.(2395-2397)ccG>ccA,7,198,0,98
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ANO7P1,101927546,1,16542466,16542466,RNA,SNP,G,A,,6,293,0,165
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NBPF1,55672,1,16892154,16892154,Missense_Mutation,SNP,T,A,c.(3037-3039)cAt>cTt,31,4006,1,3841
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ATP13A2,23400,1,17313726,17313726,Silent,SNP,G,A,c.(2896-2898)atC>atT,8,595,1,384
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ATP13A2,23400,1,17331545,17331545,Missense_Mutation,SNP,G,A,c.(310-312)aCt>aTt,5,341,0,186
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PADI2,11240,1,17396693,17396693,Missense_Mutation,SNP,G,A,c.(1654-1656)Cgt>Tgt,6,217,0,103
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TAS1R2,80834,1,19181285,19181285,Missense_Mutation,SNP,C,T,c.(679-681)Gtg>Atg,6,380,0,204
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PINK1,65018,1,20975099,20975099,Missense_Mutation,SNP,G,A,c.(1225-1227)Gga>Aga,8,843,0,455
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ALPL,249,1,21889788,21889788,Intron,SNP,G,A,,4,49,0,38
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RAP1GAP,5909,1,21961258,21961258,Intron,SNP,C,A,,4,107,1,44
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PTPRU,10076,1,29650282,29650282,Missense_Mutation,SNP,G,A,c.(4123-4125)cGc>cAc,19,116,0,85
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZMYM1,79830,1,35563193,35563193,Intron,SNP,T,C,,4,74,0,45
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SLC2A1,6513,1,43393446,43393446,Missense_Mutation,SNP,C,T,c.(1108-1110)Gtg>Atg,8,548,0,320
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KDM4A,9682,1,44128638,44128638,Missense_Mutation,SNP,T,C,c.(502-504)aTt>aCt,15,134,0,77
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MOB3C,148932,1,47075817,47075817,Nonsense_Mutation,SNP,G,A,c.(478-480)Cga>Tga,9,479,0,287
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LRP8,7804,1,53742689,53742689,Silent,SNP,G,A,c.(556-558)tgC>tgT,8,737,0,332
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FOXD3,27022,1,63790045,63790045,Missense_Mutation,SNP,G,A,c.(1315-1317)cGg>cAg,10,829,0,447
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PDE4B,5142,1,66833741,66833741,Missense_Mutation,SNP,G,A,c.(1654-1656)cGc>cAc,6,134,0,64
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GBP7,388646,1,89616126,89616126,Missense_Mutation,SNP,C,T,c.(757-759)cGa>cAa,6,228,0,113
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GBP6,163351,1,89847342,89847342,Missense_Mutation,SNP,C,T,c.(961-963)Cgt>Tgt,7,300,0,121
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MOV10,4343,1,113232693,113232693,Missense_Mutation,SNP,G,A,c.(808-810)cGg>cAg,5,168,0,116
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF697,90874,1,120165586,120165586,Silent,SNP,G,A,c.(1378-1380)acC>acT,6,159,0,109
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,POLR3C,10623,1,145608566,145608566,Missense_Mutation,SNP,G,A,c.(241-243)Cgg>Tgg,5,207,0,123
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,OTUD7B,56957,1,149916913,149916913,Missense_Mutation,SNP,G,A,c.(1375-1377)Cgg>Tgg,5,176,0,88
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,POGZ,23126,1,151377616,151377616,Nonsense_Mutation,SNP,G,A,c.(3895-3897)Cag>Tag,6,250,0,157
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FLG,2312,1,152275523,152275523,Missense_Mutation,SNP,G,A,c.(11839-11841)Cgt>Tgt,9,731,0,472
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FLG2,388698,1,152327671,152327671,Missense_Mutation,SNP,C,T,c.(2590-2592)aGt>aAt,9,563,0,341
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ADAR,103,1,154570293,154570293,Intron,SNP,G,A,,7,316,0,231
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PKLR,5313,1,155262998,155262998,Missense_Mutation,SNP,G,A,c.(1405-1407)gCt>gTt,7,643,0,373
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ARHGEF2,9181,1,155935527,155935527,Missense_Mutation,SNP,G,A,c.(364-366)tCg>tTg,22,88,0,69
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,IQGAP3,128239,1,156508743,156508743,Missense_Mutation,SNP,G,A,c.(3139-3141)Cgg>Tgg,5,376,0,259
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,BCAN,63827,1,156622143,156622143,Silent,SNP,G,A,c.(1399-1401)gaG>gaA,5,178,0,82
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,OLFML2B,25903,1,161989734,161989734,Missense_Mutation,SNP,C,T,c.(412-414)cGg>cAg,5,161,1,121
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PRRC2C,23215,1,171501621,171501621,Missense_Mutation,SNP,G,A,c.(1387-1389)cGt>cAt,6,346,1,168
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MYOC,4653,1,171605269,171605269,Silent,SNP,G,A,c.(1309-1311)taC>taT,7,461,0,295
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DNM3,26052,1,171890898,171890898,Missense_Mutation,SNP,C,T,c.(172-174)Cct>Tct,6,193,0,91
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,C1orf105,92346,1,172387460,172387460,5'Flank,SNP,C,T,,5,293,0,96
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TNN,63923,1,175092543,175092543,Silent,SNP,C,T,c.(2656-2658)gaC>gaT,4,96,0,69
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PAPPA2,60676,1,176668317,176668317,Missense_Mutation,SNP,C,T,c.(2827-2829)aCg>aTg,6,281,0,134
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GLUL,2752,1,182356408,182356408,Silent,SNP,G,A,c.(184-186)ttC>ttT,6,432,0,193
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LAMC2,3918,1,183184691,183184691,Silent,SNP,G,A,c.(370-372)acG>acA,7,546,0,210
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,EDEM3,80267,1,184672109,184672109,Missense_Mutation,SNP,C,A,c.(2224-2226)aGt>aTt,23,103,0,43
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LGR6,59352,1,202287144,202287144,Silent,SNP,C,T,c.(1711-1713)atC>atT,5,273,0,135
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KDM5B,10765,1,202702954,202702954,Missense_Mutation,SNP,C,T,c.(3484-3486)Gcc>Acc,4,74,0,56
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PPFIA4,8497,1,203024586,203024586,Missense_Mutation,SNP,C,T,c.(1789-1791)aCg>aTg,5,251,0,153
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LRRN2,10446,1,204587698,204587698,Missense_Mutation,SNP,G,A,c.(1423-1425)Cgg>Tgg,5,185,0,143
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CDK18,5129,1,205492721,205492721,Missense_Mutation,SNP,C,T,c.(241-243)Cgg>Tgg,5,298,0,106
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,IL19,29949,1,206972261,206972261,Missense_Mutation,SNP,C,T,c.(22-24)Ccg>Tcg,5,167,0,132
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TRAF3IP3,80342,1,209955404,209955404,Nonsense_Mutation,SNP,C,T,c.(1567-1569)Caa>Taa,8,277,0,126
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TAF1A,9015,1,222750884,222750884,Silent,SNP,C,T,c.(505-507)acG>acA,7,371,0,153
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DNAH14,127602,1,225533784,225533784,Missense_Mutation,SNP,G,A,c.(8110-8112)cGt>cAt,5,225,0,107
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PSEN2,5664,1,227071593,227071593,Missense_Mutation,SNP,G,A,c.(328-330)cGc>cAc,6,285,0,153
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RHOU,58480,1,228873445,228873445,Silent,SNP,C,T,c.(286-288)ccC>ccT,5,393,1,197
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,WDR64,128025,1,241842832,241842832,Nonsense_Mutation,SNP,C,T,c.(529-531)Cga>Tga,6,272,0,118
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF672,79894,1,249141573,249141573,Nonsense_Mutation,SNP,C,T,c.(100-102)Cga>Tga,7,417,0,193
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,COLEC11,78989,2,3691326,3691326,Missense_Mutation,SNP,G,A,c.(433-435)gGt>gAt,7,615,0,264
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KIDINS220,57498,2,8926012,8926012,Silent,SNP,G,A,c.(2086-2088)atC>atT,6,381,0,159
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NT5C1B,93034,2,18765373,18765373,Missense_Mutation,SNP,G,A,c.(1051-1053)cCg>cTg,7,863,1,323
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ADCY3,109,2,25141735,25141735,Missense_Mutation,SNP,C,T,c.(121-123)cGg>cAg,7,711,0,286
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,EFR3B,22979,2,25367845,25367845,Silent,SNP,C,T,c.(2065-2067)tcC>tcT,5,108,0,80
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SPDYA,245711,2,29052060,29052060,Missense_Mutation,SNP,G,A,c.(427-429)Gaa>Aaa,4,121,0,64
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,AC009499.1,0,2,33952510,33952510,lincRNA,SNP,G,A,,10,314,0,257
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ABCG8,64241,2,44078851,44078851,Missense_Mutation,SNP,G,A,c.(451-453)Gtg>Atg,8,925,1,498
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,EFEMP1,2202,2,56145019,56145019,Missense_Mutation,SNP,C,T,c.(298-300)Ggg>Agg,7,588,0,347
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,BCL11A,53335,2,60689438,60689438,Silent,SNP,G,A,c.(607-609)caC>caT,6,210,0,97
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CNRIP1,25927,2,68544234,68544234,Intron,SNP,C,T,,5,193,0,94
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ATP6V1B1,525,2,71191606,71191606,Silent,SNP,G,A,c.(1180-1182)cgG>cgA,6,377,0,257
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DNAH6,1768,2,84896510,84896510,Missense_Mutation,SNP,G,A,c.(6181-6183)cGa>cAa,6,301,0,182
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ITPRIPL1,150771,2,96992527,96992527,Missense_Mutation,SNP,G,A,c.(157-159)cGc>cAc,7,486,0,238
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CCDC138,165055,2,109404553,109404553,Intron,SNP,G,A,,5,135,0,59
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,POLR1B,84172,2,113304734,113304734,Missense_Mutation,SNP,G,A,c.(322-324)aGt>aAt,5,98,0,86
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PCDP1,0,2,120383258,120383258,Missense_Mutation,SNP,G,A,c.(1510-1512)Gca>Aca,5,111,0,60
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PTPN18,26469,2,131116894,131116894,Intron,SNP,G,A,,5,281,0,138
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZRANB3,84083,2,136026536,136026536,Missense_Mutation,SNP,C,T,c.(1381-1383)cGc>cAc,4,49,0,27
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZEB2,9839,2,145277615,145277615,5'UTR,SNP,G,A,,7,439,0,229
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CYTIP,9595,2,158272338,158272338,Missense_Mutation,SNP,C,T,c.(931-933)Gga>Aga,5,270,0,119
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PLA2R1,22925,2,160901438,160901438,Missense_Mutation,SNP,G,A,c.(340-342)Cgg>Tgg,6,334,0,150
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ITGA6,3655,2,173349579,173349579,Missense_Mutation,SNP,G,A,c.(1735-1737)cGa>cAa,7,291,0,166
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GPR155,151556,2,175309826,175309826,Missense_Mutation,SNP,C,T,c.(2092-2094)Gtg>Atg,5,161,0,73
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TTN,7273,2,179430124,179430124,Missense_Mutation,SNP,G,A,c.(75811-75813)tCt>tTt,4,82,0,65
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PMS1,5378,2,190742010,190742010,Missense_Mutation,SNP,C,T,c.(2647-2649)Cgt>Tgt,23,68,1,68
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NABP1,64859,2,192543858,192543858,Intron,SNP,G,A,,4,108,0,77
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DNAH7,56171,2,196619167,196619167,Silent,SNP,G,A,c.(11656-11658)acC>acT,4,172,0,130
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,Unknown,0,2,203054892,203054892,IGR,SNP,C,T,,3,16,0,28
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RPE,6120,2,210882572,210882572,Intron,SNP,G,A,,5,126,0,39
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TNS1,7145,2,218771067,218771067,5'UTR,SNP,G,A,,5,204,0,102
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,IHH,3549,2,219922236,219922236,Silent,SNP,G,A,c.(496-498)Ctg>Ttg,6,464,0,278
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DES,1674,2,220285041,220285041,Silent,SNP,C,T,c.(706-708)atC>atT,7,594,0,336
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DOCK10,55619,2,225750792,225750792,Silent,SNP,G,A,c.(598-600)acC>acT,28,127,0,108
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PID1,55022,2,229890597,229890597,Silent,SNP,G,A,c.(502-504)taC>taT,7,435,0,212
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ARMC9,80210,2,232123781,232123781,Missense_Mutation,SNP,G,A,c.(991-993)cGc>cAc,5,211,0,120
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,AGAP1,116987,2,236659029,236659029,Silent,SNP,C,T,c.(568-570)atC>atT,6,312,0,122
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,AGAP1,116987,2,236945274,236945274,Missense_Mutation,SNP,C,T,c.(1714-1716)aCg>aTg,6,549,0,211
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KLHL30,377007,2,239049520,239049520,Missense_Mutation,SNP,G,A,c.(124-126)cGg>cAg,7,432,1,192
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KLHL30,377007,2,239059638,239059638,Missense_Mutation,SNP,G,A,c.(1669-1671)Ggg>Agg,7,448,0,214
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FAM132B,151176,2,239075801,239075801,IGR,SNP,C,T,,8,371,0,187
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,HES6,55502,2,239147789,239147789,Missense_Mutation,SNP,G,A,c.(589-591)Cgc>Tgc,7,548,0,290
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NEU4,129807,2,242756134,242756134,Missense_Mutation,SNP,C,T,c.(247-249)Cgg>Tgg,6,250,0,128
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CPNE9,151835,3,9767730,9767730,Missense_Mutation,SNP,G,A,c.(1339-1341)Gtc>Atc,4,65,0,66
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FANCD2OS,115795,3,10144692,10144692,Intron,SNP,A,G,,5,123,1,68
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,IRAK2,3656,3,10280468,10280468,Nonsense_Mutation,SNP,C,T,c.(1510-1512)Cga>Tga,4,113,0,66
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,STT3B,201595,3,31667620,31667620,Splice_Site,SNP,G,A,c.e13+1,4,98,0,45
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CLASP2,23122,3,33576941,33576941,Missense_Mutation,SNP,G,C,c.(3595-3597)Cct>Gct,4,99,0,67
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SLC22A13,9390,3,38317397,38317397,Silent,SNP,C,T,c.(1045-1047)taC>taT,6,205,0,130
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ACVR2B,93,3,38522876,38522876,Missense_Mutation,SNP,G,A,c.(994-996)Gac>Aac,8,673,0,236
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SCN10A,6336,3,38739985,38739985,Missense_Mutation,SNP,G,A,c.(4726-4728)Cgc>Tgc,6,402,0,156
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LTF,4057,3,46497793,46497793,Silent,SNP,G,A,c.(301-303)taC>taT,5,218,0,104
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DHX30,22907,3,47889718,47889718,Missense_Mutation,SNP,C,T,c.(2335-2337)Cgc>Tgc,6,458,0,207
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,COL7A1,1294,3,48630046,48630046,Silent,SNP,G,A,c.(931-933)taC>taT,7,669,1,468
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,BSN,8927,3,49698259,49698259,Missense_Mutation,SNP,G,A,c.(8980-8982)cGg>cAg,7,291,0,134
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GNAT1,2779,3,50231206,50231206,Missense_Mutation,SNP,G,A,c.(469-471)cGc>cAc,9,678,0,390
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DNAH1,25981,3,52356727,52356727,Missense_Mutation,SNP,C,T,c.(268-270)cCg>cTg,6,501,0,252
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NT5DC2,64943,3,52562952,52562952,Splice_Site,SNP,C,T,c.e3-1,6,432,0,240
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TMEM110,375346,3,52883878,52883878,Silent,SNP,G,A,c.(355-357)taC>taT,6,353,1,141
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RFT1,91869,3,53164398,53164398,Silent,SNP,G,A,c.(19-21)Ctg>Ttg,7,531,0,192
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DNAH12,201625,3,57356390,57356390,Missense_Mutation,SNP,C,T,c.(7900-7902)gGa>gAa,4,106,0,48
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FRMD4B,23150,3,69230281,69230281,Missense_Mutation,SNP,G,A,c.(2620-2622)Cgg>Tgg,6,520,0,297
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ABI3BP,25890,3,100557053,100557053,Intron,SNP,C,T,,6,248,0,84
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CBLB,868,3,105439032,105439032,Silent,SNP,G,A,c.(1264-1266)atC>atT,9,520,0,258
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,HSPBAP1,79663,3,122477646,122477646,Intron,SNP,C,A,,6,295,0,116
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MYLK,4638,3,123348365,123348365,Silent,SNP,G,A,c.(5068-5070)gaC>gaT,5,307,0,115
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PLXND1,23129,3,129305571,129305571,Intron,SNP,G,A,,7,212,0,71
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TRH,7200,3,129694742,129694742,Missense_Mutation,SNP,C,T,c.(82-84)gCg>gTg,7,535,1,189
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NEK11,79858,3,130889683,130889683,Missense_Mutation,SNP,G,A,c.(1036-1038)Gaa>Aaa,8,251,0,140
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,EPHB1,2047,3,134851755,134851755,Silent,SNP,G,A,c.(1159-1161)acG>acA,7,542,0,183
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SPSB4,92369,3,140851073,140851073,Intron,SNP,G,A,,7,286,0,84
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SPSB4,92369,3,140851102,140851102,Intron,SNP,C,T,,5,190,0,72
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TFDP2,7029,3,141712369,141712369,Intron,SNP,C,T,,4,70,0,15
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DVL3,1857,3,183888467,183888467,Missense_Mutation,SNP,C,T,c.(2074-2076)cCg>cTg,7,631,0,257
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TP63,8626,3,189590737,189590737,Silent,SNP,G,A,c.(1300-1302)acG>acA,6,403,1,281
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MUC4,4585,3,195517061,195517061,Missense_Mutation,SNP,G,A,c.(1390-1392)Cgg>Tgg,6,90,0,86
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KIAA0226,9711,3,197431564,197431564,Silent,SNP,G,A,c.(310-312)agC>agT,9,520,0,221
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF595,152687,4,86588,86588,3'UTR,SNP,T,C,,5,153,0,97
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FGFRL1,53834,4,1017464,1017464,Missense_Mutation,SNP,G,A,c.(388-390)Gac>Aac,5,176,1,100
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MAEA,10296,4,1291787,1291787,Intron,SNP,G,A,,5,342,0,109
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GRK4,2868,4,2965733,2965733,5'UTR,SNP,C,T,,5,287,0,181
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MAN2B2,23324,4,6611655,6611655,Missense_Mutation,SNP,C,T,c.(2137-2139)Cgt>Tgt,8,597,0,300
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CCDC96,257236,4,7044540,7044540,Missense_Mutation,SNP,C,G,c.(124-126)gaG>gaC,6,241,0,119
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KIAA1239,0,4,37446300,37446300,Missense_Mutation,SNP,G,A,c.(2689-2691)cGc>cAc,5,153,0,119
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CORIN,10699,4,47676432,47676432,Silent,SNP,C,T,c.(1333-1335)ccG>ccA,6,209,0,111
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PAICS,10606,4,57318085,57318085,Silent,SNP,C,A,c.(817-819)ggC>ggA,4,100,0,46
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,USO1,8615,4,76650109,76650109,Missense_Mutation,SNP,G,A,c.(106-108)Ggg>Agg,4,124,0,55
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,HPSE,10855,4,84234407,84234407,Missense_Mutation,SNP,T,C,c.(532-534)aAc>aGc,4,115,0,54
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,METAP1,23173,4,99955458,99955458,Nonsense_Mutation,SNP,C,T,c.(244-246)Cga>Tga,6,301,0,124
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ENPEP,2028,4,111397722,111397722,Missense_Mutation,SNP,C,T,c.(151-153)cCg>cTg,13,45,0,53
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ALPK1,80216,4,113333129,113333129,Silent,SNP,G,A,c.(421-423)acG>acA,8,681,0,329
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LRP2BP,55805,4,186291929,186291929,Silent,SNP,G,A,c.(841-843)atC>atT,5,201,0,90
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZFP42,132625,4,188924075,188924075,Silent,SNP,G,A,c.(112-114)gcG>gcA,5,329,0,196
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NSUN2,54888,5,6633103,6633103,5'UTR,SNP,G,A,,4,144,0,122
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MTRR,4552,5,7892923,7892923,Missense_Mutation,SNP,G,A,c.(1534-1536)cGg>cAg,5,216,0,150
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FAM173B,134145,5,10239318,10239318,Missense_Mutation,SNP,G,A,c.(166-168)aCg>aTg,6,413,0,189
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CCT5,22948,5,10256162,10256162,Missense_Mutation,SNP,G,A,c.(427-429)Gtt>Att,7,231,0,125
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TARS,6897,5,33467737,33467737,Missense_Mutation,SNP,G,A,c.(2095-2097)cGc>cAc,6,305,0,106
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NIPBL,25836,5,36953863,36953863,Splice_Site,SNP,G,A,c.e2+1,6,277,0,123
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PLK2,10769,5,57755768,57755768,Missense_Mutation,SNP,T,C,c.(19-21)Atc>Gtc,31,82,0,58
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SREK1,140890,5,65449380,65449380,5'UTR,SNP,C,T,,6,421,0,178
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SERF1B,728492,5,69325696,69325696,Intron,SNP,T,C,,5,128,0,131
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ARHGEF28,64283,5,73189037,73189037,Silent,SNP,A,G,c.(3580-3582)aaA>aaG,5,88,0,41
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TBCA,6902,5,77072063,77072063,Silent,SNP,T,G,c.(19-21)Aga>Cga,70,372,1,225
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,VCAN,1462,5,82785989,82785989,Missense_Mutation,SNP,C,T,c.(142-144)aCg>aTg,6,231,0,134
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PCSK1,5122,5,95744037,95744037,Intron,SNP,G,A,,8,778,0,242
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,APC,324,5,112137002,112137002,Silent,SNP,C,T,c.(754-756)acC>acT,6,473,0,185
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DMXL1,1657,5,118454529,118454529,Silent,SNP,C,T,c.(763-765)Ctg>Ttg,5,94,0,46
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MEGF10,84466,5,126746263,126746263,Missense_Mutation,SNP,G,A,c.(1099-1101)cGg>cAg,6,442,0,175
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PDLIM4,8572,5,131607782,131607782,Missense_Mutation,SNP,G,A,c.(853-855)Ggc>Agc,9,885,0,348
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CTNNA1,1495,5,138260295,138260295,Missense_Mutation,SNP,G,A,c.(1642-1644)cGg>cAg,8,848,0,290
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NRG2,9542,5,139260549,139260549,Nonsense_Mutation,SNP,G,A,c.(883-885)Cga>Tga,5,258,0,104
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PCDHA8,56140,5,140222730,140222730,Silent,SNP,G,A,c.(1822-1824)tcG>tcA,9,696,0,303
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PCDHA10,56139,5,140236972,140236972,Missense_Mutation,SNP,G,A,c.(1339-1341)Gtg>Atg,8,971,0,420
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PCDHA12,56137,5,140255385,140255385,Missense_Mutation,SNP,G,A,c.(328-330)Gtg>Atg,9,671,0,278
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PCDHAC2,56134,5,140346489,140346489,Silent,SNP,C,T,c.(136-138)taC>taT,6,486,0,189
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PCDHGB7,56099,5,140797501,140797501,Silent,SNP,C,T,c.(73-75)ttC>ttT,6,396,0,159
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SH3TC2,79628,5,148407897,148407897,Silent,SNP,G,A,c.(1396-1398)aaC>aaT,7,438,0,258
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MYOZ3,91977,5,150051775,150051775,Missense_Mutation,SNP,C,T,c.(46-48)cCg>cTg,6,508,0,226
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TENM2,57451,5,167642134,167642134,Missense_Mutation,SNP,G,A,c.(3934-3936)cGc>cAc,8,652,0,239
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GABRP,2568,5,170222305,170222305,Missense_Mutation,SNP,G,A,c.(334-336)Gtg>Atg,7,552,0,240
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RANBP17,64901,5,170337978,170337978,Missense_Mutation,SNP,T,G,c.(598-600)ttT>ttG,4,130,0,72
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CLTB,1212,5,175843177,175843177,Splice_Site,SNP,C,T,c.e1+1,7,347,0,168
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,F12,2161,5,176829313,176829313,Missense_Mutation,SNP,G,A,c.(1828-1830)Cgg>Tgg,6,640,1,254
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DBN1,1627,5,176885433,176885433,Missense_Mutation,SNP,C,T,c.(1402-1404)Gta>Ata,7,255,0,114
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PDLIM7,9260,5,176916530,176916530,Missense_Mutation,SNP,G,A,c.(733-735)Cgg>Tgg,6,426,0,172
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PDLIM7,9260,5,176917602,176917602,Intron,SNP,G,A,,71,171,0,100
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FAM153C,653316,5,177482961,177482961,IGR,SNP,G,A,,7,497,0,250
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RREB1,6239,6,7248984,7248984,Missense_Mutation,SNP,G,A,c.(4846-4848)cGg>cAg,6,340,0,219
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TBC1D7,51256,6,13325364,13325364,Missense_Mutation,SNP,G,A,c.(154-156)cCg>cTg,5,221,0,77
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KIF13A,63971,6,17881756,17881756,Intron,SNP,T,C,,6,151,0,58
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PSORS1C1,170679,6,31084427,31084427,Intron,SNP,C,T,,7,591,0,329
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,C6orf47,57827,6,31627254,31627254,Nonsense_Mutation,SNP,C,T,c.(469-471)tgG>tgA,6,303,0,154
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,VWA7,80737,6,31743986,31743986,Missense_Mutation,SNP,C,T,c.(268-270)Gcc>Acc,5,159,0,120
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,VARS,7407,6,31746836,31746836,Nonsense_Mutation,SNP,G,A,c.(3634-3636)Cag>Tag,6,332,0,161
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TNXB,7148,6,32046840,32046840,Missense_Mutation,SNP,C,T,c.(4345-4347)Gtg>Atg,7,415,0,263
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ANKS1A,23294,6,34957007,34957007,Missense_Mutation,SNP,C,T,c.(1216-1218)Cgt>Tgt,7,233,0,94
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,BRPF3,27154,6,36169049,36169049,Missense_Mutation,SNP,C,T,c.(949-951)cCg>cTg,6,205,0,136
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CPNE5,57699,6,36714217,36714217,Missense_Mutation,SNP,C,T,c.(1156-1158)Gcc>Acc,5,135,0,95
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,COX6A1P2,285849,6,37012717,37012717,Missense_Mutation,SNP,G,A,c.(82-84)Gcc>Acc,7,672,0,277
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CUL7,9820,6,43013990,43013990,Missense_Mutation,SNP,G,A,c.(2644-2646)Cgg>Tgg,7,591,0,274
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PKHD1,5314,6,51612695,51612695,Missense_Mutation,SNP,C,T,c.(9718-9720)cGa>cAa,7,360,0,283
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,EFHC1,114327,6,52357674,52357674,3'UTR,SNP,A,C,,4,50,0,35
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DST,667,6,56397283,56397283,Missense_Mutation,SNP,C,T,c.(16333-16335)cGa>cAa,5,257,0,108
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DPPA5,340168,6,74063655,74063655,Silent,SNP,G,A,c.(211-213)taC>taT,6,351,1,114
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,OOEP,441161,6,74079482,74079482,Missense_Mutation,SNP,G,A,c.(34-36)Cgg>Tgg,9,200,0,111
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ASCC3,10973,6,101079056,101079056,Missense_Mutation,SNP,G,A,c.(4156-4158)Cgt>Tgt,6,188,0,93
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PREP,5550,6,105726079,105726079,Silent,SNP,C,T,c.(2071-2073)gaG>gaA,5,267,0,151
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SESN1,27244,6,109323543,109323543,Missense_Mutation,SNP,G,A,c.(106-108)Ctt>Ttt,5,187,0,77
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZBTB24,9841,6,109787112,109787112,Missense_Mutation,SNP,G,A,c.(2035-2037)cCg>cTg,6,374,0,218
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FYN,2534,6,112024217,112024217,Missense_Mutation,SNP,G,A,c.(568-570)Cgt>Tgt,5,125,0,55
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MAP7,9053,6,136693640,136693640,Splice_Site,SNP,G,A,c.(874-876)gCg>gTg,5,142,0,56
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SYNE1,23345,6,152615164,152615164,Silent,SNP,C,T,c.(17779-17781)ccG>ccA,6,353,0,191
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SMOC2,64094,6,168842107,168842107,Silent,SNP,G,A,c.(55-57)gtG>gtA,7,394,0,260
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,WDR27,253769,6,170068153,170068153,Silent,SNP,G,C,c.(583-585)ggC>ggG,7,649,0,235
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ELFN1,392617,7,1786309,1786309,Missense_Mutation,SNP,G,A,c.(2077-2079)Gag>Aag,5,139,0,107
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ELFN1,392617,7,1786398,1786398,Silent,SNP,G,A,c.(2164-2166)ccG>ccA,5,269,1,161
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LFNG,3955,7,2566829,2566829,Missense_Mutation,SNP,C,T,c.(1123-1125)Cgc>Tgc,6,503,0,267
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TWIST1,7291,7,19156429,19156429,Missense_Mutation,SNP,C,T,c.(514-516)atG>atA,7,352,0,174
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,BBS9,27241,7,33573754,33573754,Silent,SNP,C,T,c.(2485-2487)acC>acT,6,458,0,272
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GPR141,353345,7,37780157,37780157,Silent,SNP,G,A,c.(160-162)gcG>gcA,4,159,1,111
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,C7orf10,0,7,40257090,40257090,Intron,SNP,A,C,,4,113,0,65
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,HECW1,23072,7,43484766,43484766,Silent,SNP,C,T,c.(1993-1995)ggC>ggT,6,160,0,101
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CCM2,83605,7,45108137,45108137,Missense_Mutation,SNP,G,A,c.(568-570)Gtg>Atg,8,600,0,254
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ABCA13,154664,7,48643311,48643311,Intron,SNP,T,C,,5,49,0,18
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF138,7697,7,64275369,64275369,5'UTR,SNP,G,A,,6,310,0,138
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,VPS37D,155382,7,73085480,73085480,Missense_Mutation,SNP,G,A,c.(529-531)cGt>cAt,7,467,0,268
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PVRIG,79037,7,99817599,99817599,Silent,SNP,G,A,c.(64-66)ggG>ggA,5,218,0,95
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FIS1,51024,7,100883061,100883061,3'UTR,SNP,G,A,,6,416,0,189
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MET,4233,7,116371798,116371798,Missense_Mutation,SNP,G,A,c.(1276-1278)cGc>cAc,43,175,0,179
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PAX4,5078,7,127252034,127252034,Missense_Mutation,SNP,C,T,c.(712-714)Gta>Ata,6,398,0,234
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,IMPDH1,3614,7,128040201,128040201,Silent,SNP,T,C,c.(550-552)ccA>ccG,5,390,0,244
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,IMPDH1,3614,7,128049420,128049420,Splice_Site,SNP,G,A,c.(145-147)agC>agT,7,821,0,438
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FLNC,2318,7,128493638,128493638,Silent,SNP,C,T,c.(6322-6324)taC>taT,7,274,1,236
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CPA4,51200,7,129962474,129962474,Silent,SNP,G,A,c.(1222-1224)ggG>ggA,6,116,0,66
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DGKI,9162,7,137206621,137206621,Nonsense_Mutation,SNP,G,A,c.(2239-2241)Cga>Tga,7,341,0,171
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,AKR1D1,6718,7,137791368,137791368,Silent,SNP,G,A,c.(592-594)ccG>ccA,7,368,0,225
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TRIM24,8805,7,138264227,138264227,Silent,SNP,C,A,c.(2533-2535)ccC>ccA,4,58,0,40
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,EPHB6,2051,7,142562042,142562042,Missense_Mutation,SNP,G,A,c.(484-486)Gag>Aag,9,649,0,330
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CLCN1,1180,7,143027948,143027948,Missense_Mutation,SNP,G,A,c.(937-939)Gcc>Acc,7,636,0,341
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF775,285971,7,150094769,150094769,Silent,SNP,G,A,c.(1198-1200)ccG>ccA,4,130,0,86
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,WDR86,349136,7,151093042,151093042,Silent,SNP,G,A,c.(544-546)agC>agT,8,498,0,253
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RHEB,6009,7,151195246,151195246,Intron,SNP,G,A,,6,288,0,145
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF705G,100131980,8,7215583,7215583,Missense_Mutation,SNP,C,T,c.(817-819)gGa>gAa,7,340,0,300
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SOX7,83595,8,10583927,10583927,Missense_Mutation,SNP,C,T,c.(487-489)gGt>gAt,6,210,0,124
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GATA4,2626,8,11619017,11619017,IGR,SNP,G,A,,4,113,0,51
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PCM1,5108,8,17794863,17794863,Missense_Mutation,SNP,G,A,c.(316-318)cGg>cAg,7,363,0,140
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CSGALNACT1,55790,8,19362815,19362815,Silent,SNP,C,T,c.(529-531)cgG>cgA,4,96,0,90
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LZTS1,11178,8,20110989,20110989,Silent,SNP,G,A,c.(451-453)ccC>ccT,4,100,0,63
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DOK2,9046,8,21768226,21768226,Silent,SNP,G,A,c.(574-576)taC>taT,6,448,0,236
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DMTN,2039,8,21927457,21927457,Intron,SNP,G,A,,5,158,0,113
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CCAR2,57805,8,22472459,22472459,Missense_Mutation,SNP,G,A,c.(1150-1152)Gcc>Acc,5,147,0,56
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ADRB3,155,8,37823237,37823237,Missense_Mutation,SNP,G,T,c.(751-753)Ccg>Acg,4,51,0,115
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,COPS5,10987,8,67963490,67963490,Missense_Mutation,SNP,G,A,c.(745-747)aCg>aTg,5,165,0,61
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,STAU2,27067,8,74600998,74600998,Silent,SNP,G,A,c.(49-51)ggC>ggT,5,200,0,104
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TMEM70,54968,8,74891309,74891309,Intron,SNP,T,C,,5,142,0,47
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,JPH1,56704,8,75227266,75227266,Silent,SNP,G,A,c.(967-969)gaC>gaT,9,687,0,363
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZFHX4,79776,8,77763159,77763159,Silent,SNP,C,T,c.(4000-4002)ctC>ctT,4,85,0,46
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CA3,761,8,86352039,86352039,Nonsense_Mutation,SNP,C,T,c.(133-135)Cag>Tag,5,171,0,117
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RMDN1,51115,8,87507137,87507137,Intron,SNP,T,A,,4,97,0,50
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CALB1,793,8,91090601,91090601,Splice_Site,SNP,C,T,c.(229-231)gaG>gaA,6,110,0,62
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NCALD,83988,8,102701608,102701608,Nonsense_Mutation,SNP,G,A,c.(511-513)Cga>Tga,5,366,0,125
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ANXA13,312,8,124696872,124696872,Missense_Mutation,SNP,C,T,c.(808-810)cGc>cAc,5,173,0,78
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SLC45A4,57210,8,142228905,142228905,Silent,SNP,G,A,c.(679-681)caC>caT,5,223,0,97
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GPR20,2843,8,142367326,142367326,Missense_Mutation,SNP,C,T,c.(697-699)cGc>cAc,5,195,0,108
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MROH5,389690,8,142459746,142459746,RNA,SNP,C,T,,5,288,0,103
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MFSD3,113655,8,145738639,145738639,IGR,SNP,C,T,,4,129,0,119
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,VLDLR,7436,9,2643532,2643532,Splice_Site,SNP,G,A,c.e5+1,6,373,1,236
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KIAA1432,0,9,5747339,5747339,Missense_Mutation,SNP,G,A,c.(1285-1287)cGc>cAc,5,248,0,167
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KIAA1432,0,9,5769196,5769196,Missense_Mutation,SNP,C,T,c.(3364-3366)Ctt>Ttt,5,168,0,112
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FREM1,158326,9,14819338,14819338,Missense_Mutation,SNP,G,A,c.(2440-2442)Ctc>Ttc,5,245,0,104
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FOCAD,54914,9,20986373,20986373,Silent,SNP,C,T,c.(4813-4815)agC>agT,5,338,0,113
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ACO1,48,9,32445623,32445623,Intron,SNP,T,C,,5,136,0,48
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,APTX,54840,9,32984706,32984706,Silent,SNP,C,T,c.(733-735)ggG>ggA,5,424,0,263
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DNAJA1,3301,9,33030579,33030579,Missense_Mutation,SNP,G,A,c.(556-558)cGg>cAg,5,469,0,207
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NFX1,4799,9,33319097,33319097,Silent,SNP,C,T,c.(1876-1878)tgC>tgT,6,405,0,193
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KIAA1161,57462,9,34372315,34372315,Silent,SNP,G,A,c.(523-525)ttC>ttT,6,438,0,189
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,UNC13B,10497,9,35310557,35310557,Silent,SNP,C,T,c.(853-855)gaC>gaT,6,348,0,194
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TRPM3,80036,9,73399062,73399062,Silent,SNP,C,T,c.(1105-1107)tcG>tcA,5,155,0,63
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PCSK5,5125,9,78711019,78711019,Splice_Site,SNP,G,A,c.e8+1,5,134,0,93
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GADD45G,10912,9,92220795,92220795,Splice_Site,SNP,G,A,c.(367-369)tcG>tcA,5,214,0,124
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ANKRD19P,138649,9,95575992,95575992,RNA,SNP,G,A,,4,100,0,44
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF169,169841,9,97062612,97062612,Missense_Mutation,SNP,G,A,c.(772-774)Ggg>Agg,5,227,0,151
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PTCH1,5727,9,98215774,98215774,Silent,SNP,G,A,c.(3433-3435)ttC>ttT,8,656,0,260
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ALG2,85365,9,101979788,101979788,3'UTR,SNP,G,A,,6,548,0,198
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,BAAT,570,9,104130513,104130513,Silent,SNP,G,A,c.(556-558)ttC>ttT,5,332,0,184
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SLC31A1,1317,9,115985498,115985498,Intron,SNP,C,T,,5,131,0,50
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF618,114991,9,116760529,116760529,Intron,SNP,C,T,,5,226,0,99
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,USP20,10868,9,132642542,132642542,Missense_Mutation,SNP,G,A,c.(2734-2736)cGg>cAg,8,182,0,62
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,AIF1L,83543,9,133981577,133981577,Intron,SNP,C,T,,5,163,0,83
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PRRC2B,84726,9,134366932,134366932,Missense_Mutation,SNP,G,A,c.(6346-6348)Ggg>Agg,6,287,0,142
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,POMT1,10585,9,134379728,134379728,Splice_Site,SNP,G,A,c.e2+1,7,637,0,339
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SLC2A6,11182,9,136340222,136340222,Missense_Mutation,SNP,G,A,c.(787-789)tCg>tTg,5,136,0,65
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,INPP5E,56623,9,139324860,139324860,Silent,SNP,G,A,c.(1669-1671)cgC>cgT,6,368,0,213
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NOTCH1,4851,9,139401346,139401346,Silent,SNP,G,A,c.(3721-3723)aaC>aaT,7,633,0,372
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ANAPC2,29882,9,140069774,140069774,Missense_Mutation,SNP,C,T,c.(2170-2172)cGg>cAg,5,418,0,157
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ANAPC2,29882,9,140069854,140069854,Silent,SNP,G,A,c.(2089-2091)tcC>tcT,5,275,0,130
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TOR4A,54863,9,140173470,140173470,Missense_Mutation,SNP,G,A,c.(328-330)cGg>cAg,5,272,0,153
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,EHMT1,79813,9,140648710,140648710,Missense_Mutation,SNP,C,T,c.(1336-1338)Cgg>Tgg,6,324,0,139
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ASB13,79754,10,5693176,5693176,Splice_Site,SNP,C,T,c.(382-384)Ggg>Agg,4,106,0,33
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FAM171A1,221061,10,15255016,15255016,Silent,SNP,G,A,c.(2569-2571)caC>caT,6,192,0,119
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CUBN,8029,10,17171208,17171208,Missense_Mutation,SNP,G,A,c.(163-165)aCg>aTg,6,399,0,149
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SVIL,6840,10,29762829,29762829,Missense_Mutation,SNP,C,T,c.(5467-5469)Gtg>Atg,7,787,0,351
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GPRIN2,9721,10,46999778,46999778,Missense_Mutation,SNP,G,A,c.(898-900)Gct>Act,6,288,0,197
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GDF10,2662,10,48429164,48429164,Missense_Mutation,SNP,G,A,c.(721-723)gCg>gTg,6,391,1,157
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,IPMK,253430,10,60027192,60027192,Silent,SNP,C,T,c.(178-180)aaG>aaA,7,492,0,207
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF365,22891,10,64136112,64136112,Missense_Mutation,SNP,G,A,c.(160-162)Gaa>Aaa,7,289,0,164
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CDH23,64072,10,73569741,73569741,Missense_Mutation,SNP,G,A,c.(8902-8904)Gag>Aag,6,433,0,198
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CHST3,9469,10,73767392,73767392,Silent,SNP,C,T,c.(601-603)taC>taT,9,748,0,444
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MAT1A,4143,10,82034334,82034334,Nonsense_Mutation,SNP,G,A,c.(1027-1029)Cga>Tga,8,798,0,456
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NDUFB8,4714,10,102286817,102286817,Missense_Mutation,SNP,G,A,c.(226-228)cCg>cTg,5,160,0,124
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MGEA5,10724,10,103551115,103551115,Missense_Mutation,SNP,C,T,c.(2257-2259)Gac>Aac,4,91,0,55
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ATRNL1,26033,10,117357216,117357216,Intron,SNP,T,C,,6,300,0,83
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FGFR2,2263,10,123310896,123310896,Missense_Mutation,SNP,G,A,c.(532-534)Cgc>Tgc,5,278,0,127
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CHST15,51363,10,125801955,125801955,Missense_Mutation,SNP,G,A,c.(895-897)Cgc>Tgc,5,132,0,58
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LINC00959,387723,10,131905727,131905727,lincRNA,SNP,A,G,,5,284,0,153
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,IFITM5,387733,11,299492,299492,5'UTR,SNP,G,A,,3,18,0,9
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,IFITM2,10581,11,308443,308443,Intron,SNP,G,A,,4,81,0,107
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PHRF1,57661,11,592684,592684,Intron,SNP,G,A,,9,241,0,68
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MUC6,4588,11,1031992,1031992,Silent,SNP,G,A,c.(175-177)caC>caT,6,380,1,244
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LSP1,4046,11,1911587,1911587,Intron,SNP,C,T,,4,73,0,68
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CDKN1C,1028,11,2906389,2906389,Missense_Mutation,SNP,C,T,c.(331-333)Gtc>Atc,5,201,0,165
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TRIM22,10346,11,5730492,5730492,Missense_Mutation,SNP,G,A,c.(1111-1113)Gta>Ata,5,100,0,68
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,OR10A4,283297,11,6898388,6898388,Silent,SNP,T,C,c.(508-510)tgT>tgC,42,187,0,157
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KCNC1,3746,11,17757873,17757873,Silent,SNP,G,A,c.(322-324)acG>acA,6,431,0,229
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NELL1,4745,11,21555960,21555960,Silent,SNP,C,T,c.(1684-1686)aaC>aaT,7,303,0,149
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PRDM11,56981,11,45249277,45249277,IGR,SNP,G,A,,5,159,0,112
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MAPK8IP1,9479,11,45923939,45923939,Silent,SNP,G,A,c.(619-621)ccG>ccA,6,360,0,173
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CPSF7,79869,11,61188692,61188692,Intron,SNP,C,T,,5,206,0,164
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FADS1,3992,11,61578554,61578554,Intron,SNP,G,A,,5,151,0,67
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FADS1,3992,11,61580110,61580110,Missense_Mutation,SNP,G,A,c.(517-519)Cgg>Tgg,7,282,0,174
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SCGB2A2,4250,11,62037751,62037751,Intron,SNP,C,T,,39,179,0,101
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,EML3,256364,11,62373432,62373432,Silent,SNP,G,A,c.(1675-1677)gcC>gcT,6,227,0,100
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LRRN4CL,221091,11,62455687,62455687,Silent,SNP,G,A,c.(292-294)ggC>ggT,6,392,0,233
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RPS6KA4,8986,11,64136092,64136092,Intron,SNP,G,A,,5,322,0,207
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SLC22A12,116085,11,64368385,64368385,Missense_Mutation,SNP,G,A,c.(1573-1575)Gac>Aac,7,798,1,443
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ARL2,402,11,64786228,64786228,Intron,SNP,G,A,,7,260,0,145
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LTBP3,4054,11,65311013,65311013,Silent,SNP,G,A,c.(2359-2361)gaC>gaT,6,326,0,194
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LTBP3,4054,11,65321235,65321235,Silent,SNP,G,A,c.(799-801)caC>caT,7,364,0,169
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,EHBP1L1,254102,11,65352969,65352969,Silent,SNP,G,A,c.(3838-3840)gcG>gcA,8,933,0,447
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PCNXL3,399909,11,65397039,65397039,Missense_Mutation,SNP,G,A,c.(4048-4050)cGt>cAt,6,452,0,243
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PACS1,55690,11,66006731,66006731,Silent,SNP,C,T,c.(2410-2412)agC>agT,5,104,0,84
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SPTBN2,6712,11,66472619,66472619,Missense_Mutation,SNP,C,T,c.(2128-2130)Gag>Aag,4,69,0,86
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PITPNM1,9600,11,67265500,67265500,Intron,SNP,G,A,,5,239,0,151
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NADSYN1,55191,11,71175188,71175188,Splice_Site,SNP,G,A,c.(406-408)cGg>cAg,5,227,0,110
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PDE2A,5138,11,72301355,72301355,Intron,SNP,G,A,,6,435,0,242
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ARHGEF17,9828,11,73076907,73076907,Silent,SNP,C,T,c.(5908-5910)acC>acT,6,443,1,195
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,C2CD3,26005,11,73748703,73748703,Missense_Mutation,SNP,G,A,c.(5701-5703)Cgc>Tgc,6,414,0,202
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PPME1,51400,11,73946966,73946966,Missense_Mutation,SNP,G,A,c.(664-666)cGa>cAa,5,289,0,126
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MYO7A,4647,11,76914130,76914130,Missense_Mutation,SNP,C,T,c.(5194-5196)Cgt>Tgt,5,343,0,123
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TENM4,26011,11,78775867,78775867,Missense_Mutation,SNP,G,A,c.(409-411)Cgg>Tgg,11,540,1,162
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SIK2,23235,11,111590662,111590662,Missense_Mutation,SNP,G,A,c.(1429-1431)cGc>cAc,6,550,0,303
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TMPRSS4,56649,11,117985901,117985901,Missense_Mutation,SNP,G,A,c.(1057-1059)aGc>aAc,5,272,0,121
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KMT2A,4297,11,118344859,118344859,Silent,SNP,A,G,c.(2983-2985)tcA>tcG,33,156,0,119
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PHLDB1,23187,11,118498962,118498962,Missense_Mutation,SNP,C,T,c.(1423-1425)Cgg>Tgg,40,148,0,120
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CHEK1,1111,11,125513711,125513711,Missense_Mutation,SNP,C,T,c.(838-840)tCa>tTa,5,182,0,82
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GLB1L2,89944,11,134234287,134234287,Missense_Mutation,SNP,G,A,c.(799-801)Gtc>Atc,5,114,0,68
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,WNK1,65125,12,990903,990903,Missense_Mutation,SNP,G,A,c.(3157-3159)Gta>Ata,7,365,0,192
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GALNT8,26290,12,4835772,4835772,Missense_Mutation,SNP,C,T,c.(286-288)Cgc>Tgc,5,105,0,78
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,VWF,7450,12,6143880,6143880,Missense_Mutation,SNP,C,T,c.(2659-2661)Ggg>Agg,7,306,0,140
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PLEKHG6,55200,12,6421470,6421470,Silent,SNP,G,A,c.(76-78)cgG>cgA,5,118,0,68
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SCNN1A,6337,12,6483631,6483631,Missense_Mutation,SNP,C,T,c.(319-321)Gga>Aga,7,560,0,231
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,WBP11,51729,12,14940169,14940169,Missense_Mutation,SNP,G,A,c.(1756-1758)Cgt>Tgt,5,272,0,175
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PDE3A,5139,12,20769328,20769328,Intron,SNP,G,A,,5,127,0,62
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KIF21A,55605,12,39836781,39836781,5'UTR,SNP,C,T,,7,547,0,298
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TWF1,5756,12,44199819,44199819,Intron,SNP,G,A,,6,433,0,177
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SLC38A1,81539,12,46591591,46591591,Missense_Mutation,SNP,G,A,c.(1273-1275)tCt>tTt,4,66,0,40
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KANSL2,54934,12,49054257,49054257,Silent,SNP,G,A,c.(1117-1119)ccC>ccT,7,505,0,266
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FKBP11,51303,12,49316811,49316811,Intron,SNP,A,G,,4,76,0,24
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DAZAP2,9802,12,51632683,51632683,5'UTR,SNP,G,A,,6,279,0,124
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,BIN2,51411,12,51685972,51685972,Silent,SNP,C,T,c.(916-918)ggG>ggA,5,176,0,128
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KRT1,3848,12,53069065,53069065,Missense_Mutation,SNP,C,T,c.(1846-1848)cGg>cAg,8,439,0,231
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,HOXC12,3228,12,54348881,54348881,Silent,SNP,G,A,c.(166-168)ccG>ccA,7,803,0,393
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ERBB3,2065,12,56495610,56495610,Missense_Mutation,SNP,G,A,c.(3799-3801)cGa>cAa,5,230,0,183
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RBMS2,5939,12,56933510,56933510,Intron,SNP,A,G,,4,102,0,41
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,METTL21B,25895,12,58163659,58163659,5'Flank,SNP,G,A,,6,378,0,121
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,WIF1,11197,12,65456313,65456313,Silent,SNP,G,A,c.(772-774)taC>taT,5,258,0,68
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PPP1R12A,4659,12,80176350,80176350,Intron,SNP,C,T,,4,163,0,50
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PPP1R12A,4659,12,80222146,80222146,Missense_Mutation,SNP,C,T,c.(745-747)cGa>cAa,5,236,0,108
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,EEA1,8411,12,93171759,93171759,Missense_Mutation,SNP,G,A,c.(3850-3852)aCg>aTg,7,170,0,95
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PAH,5053,12,103246681,103246681,Missense_Mutation,SNP,G,A,c.(754-756)Cgg>Tgg,7,533,1,303
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,WSCD2,9671,12,108604077,108604077,Missense_Mutation,SNP,G,A,c.(676-678)cGc>cAc,6,185,1,115
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ACACB,32,12,109604754,109604754,Missense_Mutation,SNP,G,A,c.(742-744)Gct>Act,6,371,1,239
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MED13L,23389,12,116429759,116429759,Silent,SNP,G,A,c.(2998-3000)aaC>aaT,8,464,0,273
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FBXW8,26259,12,117465837,117465837,Missense_Mutation,SNP,C,T,c.(1657-1659)Cgg>Tgg,5,165,0,76
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ATP6V0A2,23545,12,124241453,124241453,Silent,SNP,G,A,c.(2383-2385)gcG>gcA,5,224,0,170
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PUS1,80324,12,132428116,132428116,Silent,SNP,C,T,c.(1267-1269)gaC>gaT,6,387,1,249
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,POLE,5426,12,133244109,133244109,Missense_Mutation,SNP,C,T,c.(2299-2301)Gag>Aag,34,112,0,92
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZDHHC20,253832,13,21949188,21949188,IGR,SNP,T,A,,4,51,0,43
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KBTBD7,84078,13,41768297,41768297,Missense_Mutation,SNP,A,G,c.(97-99)Ttt>Ctt,6,388,1,153
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,VWA8,23078,13,42267017,42267017,Nonsense_Mutation,SNP,C,T,c.(3655-3657)tGg>tAg,5,247,0,109
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TSC22D1,8848,13,45149972,45149972,Missense_Mutation,SNP,G,A,c.(238-240)cCg>cTg,5,135,0,84
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PCDH8,5100,13,53419611,53419611,Missense_Mutation,SNP,C,T,c.(2788-2790)Gac>Aac,6,450,0,226
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SLITRK6,84189,13,86368740,86368740,Missense_Mutation,SNP,C,T,c.(1903-1905)cGc>cAc,5,201,0,107
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,STK24,8428,13,99127068,99127068,Intron,SNP,C,T,,4,79,0,34
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CARS2,79587,13,111290848,111290848,IGR,SNP,C,T,,5,157,0,68
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ADPRHL1,113622,13,114083371,114083371,Missense_Mutation,SNP,G,A,c.(541-543)tCg>tTg,6,346,0,195
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RASA3,22821,13,114758064,114758064,Splice_Site,SNP,G,A,c.(2140-2142)ggC>ggT,5,136,0,62
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TEP1,7011,14,20850814,20850814,Missense_Mutation,SNP,C,T,c.(4108-4110)Gat>Aat,6,401,0,157
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CHD8,57680,14,21861413,21861413,Splice_Site,SNP,G,A,c.(6319-6321)aCt>aTt,4,94,0,53
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZFHX2,85446,14,23994449,23994449,Nonsense_Mutation,SNP,G,A,c.(4702-4704)Cga>Tga,5,306,0,169
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NRL,4901,14,24551967,24551967,Nonsense_Mutation,SNP,G,A,c.(91-93)Cga>Tga,6,394,0,173
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NYNRIN,57523,14,24877441,24877441,Silent,SNP,C,T,c.(565-567)Ctg>Ttg,5,214,0,119
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CTAGE5,4253,14,39856106,39856106,Missense_Mutation,SNP,G,A,c.(2266-2268)Ggg>Agg,5,246,0,68
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SPTB,6710,14,65220354,65220354,Missense_Mutation,SNP,G,A,c.(6502-6504)aCg>aTg,7,486,0,280
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,COQ6,51004,14,74425698,74425698,Missense_Mutation,SNP,G,A,c.(637-639)Gga>Aga,7,556,0,342
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,POMT2,29954,14,77746192,77746192,Missense_Mutation,SNP,C,T,c.(1864-1866)gGg>gAg,5,343,0,246
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FLRT2,23768,14,86089368,86089368,Missense_Mutation,SNP,G,A,c.(1510-1512)Gta>Ata,6,338,0,125
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LINC00341,79686,14,95875442,95875442,lincRNA,SNP,C,A,,4,76,0,58
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TCL6,27004,14,96134762,96134762,RNA,SNP,G,A,,5,156,0,88
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DYNC1H1,1778,14,102452704,102452704,Silent,SNP,G,A,c.(2140-2142)tcG>tcA,7,745,0,314
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,WDR20,91833,14,102675218,102675218,Silent,SNP,C,T,c.(709-711)tgC>tgT,6,452,0,192
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,AHNAK2,113146,14,105420184,105420184,Missense_Mutation,SNP,G,A,c.(1603-1605)gCc>gTc,6,145,0,114
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,IGHM,3507,14,106320810,106320810,RNA,SNP,G,A,,8,596,0,397
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KLF13,51621,15,31664300,31664300,Missense_Mutation,SNP,C,T,c.(664-666)aCg>aTg,7,539,0,202
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FMN1,342184,15,33103182,33103182,Intron,SNP,G,A,,5,153,0,91
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NDUFAF1,51103,15,41686512,41686512,Intron,SNP,G,A,,6,306,0,176
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,JMJD7,100137047,15,42129072,42129072,Missense_Mutation,SNP,G,A,c.(796-798)Ggt>Agt,7,351,0,132
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PLA2G4B,100137049,15,42137172,42137172,Silent,SNP,G,A,c.(1141-1143)cgG>cgA,7,665,0,296
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PLA2G4E,123745,15,42292379,42292379,Missense_Mutation,SNP,C,T,c.(775-777)Gct>Act,6,367,0,186
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TP53BP1,7158,15,43705411,43705411,Silent,SNP,G,A,c.(5194-5196)taC>taT,9,442,0,225
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MAP1A,4130,15,43821861,43821861,Silent,SNP,C,T,c.(8047-8049)tcC>tcT,5,160,0,124
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FBN1,2200,15,48829850,48829850,Missense_Mutation,SNP,G,A,c.(694-696)Cgc>Tgc,6,317,0,122
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TLN2,83660,15,63053922,63053922,Missense_Mutation,SNP,C,T,c.(4681-4683)Cgc>Tgc,8,334,0,163
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,IGDCC3,9543,15,65621372,65621372,Missense_Mutation,SNP,C,T,c.(2320-2322)Gct>Act,7,308,0,109
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,IGDCC4,57722,15,65678991,65678991,Missense_Mutation,SNP,G,A,c.(2848-2850)tCg>tTg,5,164,0,135
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CALML4,91860,15,68491961,68491961,Silent,SNP,G,A,c.(220-222)acC>acT,8,377,1,119
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ANP32A,8125,15,69076814,69076814,Missense_Mutation,SNP,G,A,c.(448-450)Cgg>Tgg,9,719,0,289
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TLE3,7090,15,70344846,70344846,Silent,SNP,G,A,c.(1999-2001)taC>taT,6,204,1,90
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,HEXA,3073,15,72637870,72637870,Silent,SNP,G,A,c.(1441-1443)gcC>gcT,8,672,0,392
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TBC1D21,161514,15,74180788,74180788,Silent,SNP,C,T,c.(910-912)atC>atT,6,252,0,129
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PSTPIP1,9051,15,77324686,77324686,Silent,SNP,C,T,c.(787-789)gcC>gcT,5,314,0,137
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PLIN1,5346,15,90212803,90212803,Silent,SNP,G,A,c.(697-699)acC>acT,7,477,0,252
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CHD2,1106,15,93486167,93486167,Silent,SNP,C,T,c.(919-921)taC>taT,6,284,0,137
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PGPEP1L,145814,15,99512797,99512797,Silent,SNP,G,A,c.(226-228)gcC>gcT,7,924,0,406
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CTD-2054N24.2,0,15,100353197,100353197,Missense_Mutation,SNP,T,G,c.(151-153)aTg>aGg,7,348,0,155
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ADAMTS17,170691,15,100657192,100657192,Missense_Mutation,SNP,G,A,c.(1747-1749)cCg>cTg,7,868,1,401
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,AXIN1,8312,16,396835,396835,Missense_Mutation,SNP,G,A,c.(190-192)tCg>tTg,5,144,0,72
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TMEM8A,58986,16,422217,422217,Silent,SNP,G,A,c.(2086-2088)Ctg>Ttg,5,304,0,194
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MSLNL,401827,16,830669,830669,Intron,SNP,C,T,,9,811,0,578
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CHTF18,63922,16,839277,839277,Silent,SNP,G,A,c.(352-354)gaG>gaA,5,190,0,111
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TELO2,9894,16,1557715,1557715,Missense_Mutation,SNP,C,T,c.(2404-2406)gCg>gTg,5,221,1,124
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MLST8,64223,16,2258580,2258580,Silent,SNP,C,T,c.(826-828)tgC>tgT,5,204,0,140
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PGP,283871,16,2264648,2264648,Missense_Mutation,SNP,G,A,c.(130-132)aCc>aTc,6,294,1,150
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ABCA3,21,16,2347778,2347778,Missense_Mutation,SNP,C,T,c.(2041-2043)Gca>Aca,6,444,0,219
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NAGPA,51172,16,5081786,5081786,Silent,SNP,G,A,c.(640-642)aaC>aaT,6,428,0,202
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TXNDC11,51061,16,11836563,11836563,Silent,SNP,G,A,c.(22-24)ggC>ggT,5,156,0,76
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MYH11,4629,16,15832542,15832542,Nonsense_Mutation,SNP,G,A,c.(3001-3003)Cga>Tga,6,202,0,126
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PRKCB,5579,16,23847556,23847556,Silent,SNP,C,T,c.(58-60)ttC>ttT,7,478,0,328
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ABCC12,94160,16,48121967,48121967,Missense_Mutation,SNP,G,A,c.(3505-3507)Cgt>Tgt,6,113,0,73
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GNAO1,2775,16,56370665,56370665,Nonsense_Mutation,SNP,C,T,c.(616-618)Cga>Tga,5,211,0,105
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RSPRY1,89970,16,57250858,57250858,Missense_Mutation,SNP,G,A,c.(811-813)cGg>cAg,6,230,0,92
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TK2,7084,16,66570913,66570913,Missense_Mutation,SNP,G,A,c.(238-240)aCg>aTg,7,534,0,288
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KCTD19,146212,16,67333270,67333270,Missense_Mutation,SNP,C,T,c.(982-984)Gtc>Atc,6,419,0,237
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TPPP3,51673,16,67424097,67424097,Missense_Mutation,SNP,C,T,c.(511-513)Gat>Aat,5,118,0,54
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DPEP3,64180,16,68012539,68012539,Intron,SNP,G,A,,4,97,0,72
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PLA2G15,23659,16,68287316,68287316,Intron,SNP,A,G,,4,88,0,59
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,HYDIN,54768,16,70867855,70867855,Silent,SNP,G,A,c.(13612-13614)ccC>ccT,5,269,0,166
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PSMD7,5713,16,74333480,74333480,Intron,SNP,G,A,,7,249,0,82
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CHST6,4166,16,75512908,75512908,Silent,SNP,G,A,c.(817-819)ttC>ttT,8,930,0,511
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CDH13,1012,16,83712034,83712034,Silent,SNP,G,A,c.(1504-1506)acG>acA,5,211,0,129
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ANKRD11,29123,16,89351632,89351632,Nonsense_Mutation,SNP,G,A,c.(1318-1320)Cga>Tga,10,542,0,317
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SLC43A2,124935,17,1478994,1478994,Silent,SNP,G,A,c.(1612-1614)taC>taT,6,334,0,146
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,WDR81,124997,17,1633746,1633746,Missense_Mutation,SNP,G,A,c.(3739-3741)cGg>cAg,5,302,0,139
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RAP1GAP2,23108,17,2923886,2923886,Missense_Mutation,SNP,G,A,c.(1747-1749)cGa>cAa,7,224,0,91
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TNK1,8711,17,7287851,7287851,Silent,SNP,C,T,c.(913-915)gaC>gaT,4,63,0,59
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FXR2,9513,17,7497549,7497549,Intron,SNP,C,T,,4,54,0,39
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DNAH2,146754,17,7689558,7689558,Silent,SNP,C,T,c.(6244-6246)atC>atT,7,498,0,223
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DNAH2,146754,17,7696005,7696005,Silent,SNP,C,T,c.(7174-7176)acC>acT,5,232,0,158
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CHD3,1107,17,7812575,7812575,Missense_Mutation,SNP,G,A,c.(5509-5511)Gag>Aag,7,778,0,256
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KCNAB3,9196,17,7832696,7832696,Missense_Mutation,SNP,G,A,c.(58-60)Cgt>Tgt,7,603,0,251
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MYH8,4626,17,10323355,10323355,Missense_Mutation,SNP,C,T,c.(190-192)Gta>Ata,6,236,0,160
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MYOCD,93649,17,12661457,12661457,Missense_Mutation,SNP,C,T,c.(2113-2115)cCa>cTa,5,212,0,119
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NCOR1,9611,17,15973769,15973769,Missense_Mutation,SNP,G,A,c.(4222-4224)aCg>aTg,6,181,0,98
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FLCN,201163,17,17119772,17119772,Missense_Mutation,SNP,G,T,c.(1222-1224)Cag>Aag,10,556,0,242
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RAI1,10743,17,17696359,17696359,Missense_Mutation,SNP,C,T,c.(97-99)Ccg>Tcg,6,381,0,214
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FLII,2314,17,18151865,18151865,Splice_Site,SNP,T,C,c.(2188-2190)aAg>aGg,4,64,0,34
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FAM83G,644815,17,18907274,18907274,Silent,SNP,G,A,c.(79-81)taC>taT,6,298,0,101
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CCDC144NL,339184,17,20799057,20799057,Missense_Mutation,SNP,C,T,c.(277-279)Gtc>Atc,5,180,0,155
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SEZ6,124925,17,27287532,27287532,Missense_Mutation,SNP,G,A,c.(1567-1569)Cgc>Tgc,5,211,0,104
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TAF15,8148,17,34171309,34171309,Nonsense_Mutation,SNP,C,T,c.(1114-1116)Cga>Tga,7,322,0,188
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GPR179,440435,17,36492868,36492868,Missense_Mutation,SNP,C,T,c.(1219-1221)cGg>cAg,5,183,0,116
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KRT37,8688,17,39578363,39578363,Silent,SNP,C,T,c.(976-978)acG>acA,6,436,0,218
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KRT16,3868,17,39767164,39767164,Missense_Mutation,SNP,G,A,c.(1000-1002)aCg>aTg,7,495,0,297
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,EFTUD2,9343,17,42930906,42930906,Silent,SNP,G,A,c.(2443-2445)gtC>gtT,6,253,0,116
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RP11-156P1.2,0,17,45043897,45043897,Intron,SNP,C,T,,6,179,0,81
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MMD,23531,17,53488742,53488742,Missense_Mutation,SNP,G,A,c.(145-147)Ctc>Ttc,5,112,0,67
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PPM1D,8493,17,58734024,58734024,Missense_Mutation,SNP,G,A,c.(1081-1083)cGt>cAt,5,210,0,152
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,BPTF,2186,17,65907518,65907518,Missense_Mutation,SNP,G,A,c.(3895-3897)cGg>cAg,4,117,0,84
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FAM104A,84923,17,71203844,71203844,3'UTR,SNP,G,A,,5,164,0,60
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GPRC5C,55890,17,72443173,72443173,3'UTR,SNP,C,T,,4,71,0,56
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GRIN2C,2905,17,72840565,72840565,Silent,SNP,G,A,c.(2431-2433)gaC>gaT,6,380,0,211
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LLGL2,3993,17,73564697,73564697,Missense_Mutation,SNP,G,A,c.(1177-1179)Gtc>Atc,9,425,0,235
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,UNK,85451,17,73819453,73819453,Silent,SNP,G,A,c.(2125-2127)caG>caA,6,443,0,152
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,9-Sep,10801,17,75478339,75478339,Missense_Mutation,SNP,G,A,c.(835-837)Gtg>Atg,8,663,0,264
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DNAH17,8632,17,76459121,76459121,Silent,SNP,G,A,c.(8962-8964)taC>taT,6,194,0,151
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TBC1D16,125058,17,77984047,77984047,Missense_Mutation,SNP,C,T,c.(691-693)Gac>Aac,59,228,0,141
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GAA,2548,17,78086398,78086398,Silent,SNP,G,A,c.(1774-1776)ggG>ggA,6,406,0,263
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RP11-1055B8.7,0,17,79412482,79412482,Missense_Mutation,SNP,G,A,c.(2938-2940)Gcc>Acc,5,155,0,114
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,OGFOD3,79701,17,80350294,80350294,Missense_Mutation,SNP,C,T,c.(940-942)Gag>Aag,5,186,1,91
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LPIN2,9663,18,2931250,2931250,Intron,SNP,G,A,,7,565,0,252
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PIEZO2,63895,18,10762555,10762555,Silent,SNP,G,A,c.(3115-3117)atC>atT,6,356,0,156
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LAMA3,3909,18,21479018,21479018,Missense_Mutation,SNP,G,A,c.(5824-5826)cGg>cAg,7,405,0,175
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DSG3,1830,18,29046693,29046693,Missense_Mutation,SNP,G,A,c.(1612-1614)Gta>Ata,5,115,1,88
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CCDC178,374864,18,30908092,30908092,Intron,SNP,A,T,,5,65,0,25
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MOCOS,55034,18,33846823,33846823,Intron,SNP,G,A,,7,289,0,212
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LOXHD1,125336,18,44057674,44057674,Missense_Mutation,SNP,G,A,c.(5749-5751)Cgc>Tgc,8,1021,0,534
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SKOR2,652991,18,44773989,44773989,Silent,SNP,G,A,c.(1564-1566)agC>agT,4,120,0,48
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MYO5B,4645,18,47432958,47432958,Nonsense_Mutation,SNP,G,A,c.(2245-2247)Cga>Tga,5,247,0,138
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MBD1,4152,18,47806299,47806299,Missense_Mutation,SNP,G,A,c.(64-66)Cgc>Tgc,6,489,0,189
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,WDR7,23335,18,54694337,54694337,Missense_Mutation,SNP,G,A,c.(4372-4374)Ggc>Agc,7,549,0,226
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CDH20,28316,18,59221666,59221666,Missense_Mutation,SNP,C,T,c.(2143-2145)aCg>aTg,7,389,1,183
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF407,55628,18,72776013,72776013,Silent,SNP,C,T,c.(6334-6336)gcC>gcT,5,193,0,96
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF516,9658,18,74153283,74153283,Silent,SNP,G,A,c.(1726-1728)gcC>gcT,9,617,0,254
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF516,9658,18,74154027,74154027,Silent,SNP,G,A,c.(982-984)gtC>gtT,8,703,0,379
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ABCA7,10347,19,1046979,1046979,Missense_Mutation,SNP,G,A,c.(1801-1803)Ggg>Agg,5,273,0,134
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,AMH,268,19,2250711,2250711,Missense_Mutation,SNP,G,A,c.(616-618)Gcc>Acc,6,241,1,172
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PIP5K1C,23396,19,3651813,3651813,Intron,SNP,C,T,,4,184,0,133
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TJP3,27134,19,3730576,3730576,Missense_Mutation,SNP,G,A,c.(484-486)cGt>cAt,10,400,0,226
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZFR2,23217,19,3820298,3820298,Intron,SNP,C,T,,5,162,0,104
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RANBP3,8498,19,5914701,5914701,IGR,SNP,C,A,,4,80,0,70
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CAMSAP3,57662,19,7682682,7682682,Silent,SNP,C,T,c.(3487-3489)cgC>cgT,6,151,0,88
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TRAPPC5,126003,19,7747526,7747526,Silent,SNP,C,T,c.(385-387)tcC>tcT,7,395,0,190
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MUC16,94025,19,9060334,9060334,Missense_Mutation,SNP,G,C,c.(27112-27114)Caa>Gaa,4,66,0,52
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,OLFM2,93145,19,9968548,9968548,Intron,SNP,G,A,,6,393,0,236
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DNM2,1785,19,10940903,10940903,Missense_Mutation,SNP,G,A,c.(2392-2394)Gtg>Atg,5,268,0,138
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SMARCA4,6597,19,11144481,11144481,Silent,SNP,C,T,c.(3811-3813)ttC>ttT,7,714,0,329
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF709,163051,19,12661275,12661275,Intron,SNP,A,G,,6,82,0,34
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PRDX2,7001,19,12910730,12910730,Missense_Mutation,SNP,C,T,c.(454-456)Gtg>Atg,5,234,0,124
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZSWIM4,65249,19,13910707,13910707,Silent,SNP,C,T,c.(325-327)agC>agT,5,250,0,137
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZSWIM4,65249,19,13941086,13941086,Missense_Mutation,SNP,C,T,c.(2191-2193)aCg>aTg,7,371,0,206
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,IL27RA,9466,19,14153384,14153384,Silent,SNP,C,T,c.(652-654)ggC>ggT,39,100,0,122
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,BRD4,23476,19,15353791,15353791,Missense_Mutation,SNP,G,A,c.(3088-3090)cCg>cTg,7,271,1,161
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RASAL3,64926,19,15568450,15568450,Missense_Mutation,SNP,G,A,c.(1084-1086)Ccg>Tcg,5,279,1,181
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,EPS15L1,58513,19,16503210,16503210,Missense_Mutation,SNP,G,A,c.(2008-2010)Cgt>Tgt,6,280,0,115
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DDA1,79016,19,17430454,17430454,Nonsense_Mutation,SNP,G,T,c.(298-300)Gag>Tag,39,246,0,138
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PGLS,25796,19,17622657,17622657,Missense_Mutation,SNP,C,T,c.(175-177)cCc>cTc,7,370,1,238
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RAB3A,5864,19,18308379,18308379,Silent,SNP,G,A,c.(562-564)tcC>tcT,6,534,0,233
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GDF15,9518,19,18497096,18497096,Missense_Mutation,SNP,G,A,c.(97-99)Gcc>Acc,8,467,0,257
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,UPF1,5976,19,18965942,18965942,Missense_Mutation,SNP,G,A,c.(1468-1470)Gtg>Atg,5,284,0,156
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,UPF1,5976,19,18971651,18971651,Missense_Mutation,SNP,G,A,c.(2350-2352)Gtg>Atg,5,205,0,103
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF93,81931,19,20045033,20045033,Silent,SNP,A,G,c.(1267-1269)aaA>aaG,5,261,2,163
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF676,163223,19,22363786,22363786,Missense_Mutation,SNP,T,C,c.(733-735)Ata>Gta,9,520,0,303
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CTC-457E21.9,0,19,22869011,22869011,RNA,SNP,G,T,,7,225,1,192
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CTC-457E21.9,0,19,22869019,22869019,RNA,SNP,T,A,,7,241,0,203
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF99,7652,19,22939769,22939769,IGR,SNP,C,T,,4,126,0,89
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF728,388523,19,23159288,23159288,Missense_Mutation,SNP,T,C,c.(850-852)tAc>tGc,5,317,0,213
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF724P,440519,19,23405378,23405378,Missense_Mutation,SNP,T,C,c.(1669-1671)Act>Gct,6,289,0,185
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF91,7644,19,23544157,23544157,Missense_Mutation,SNP,T,C,c.(1624-1626)Aga>Gga,5,202,1,131
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF91,7644,19,23544168,23544168,Missense_Mutation,SNP,A,C,c.(1612-1614)aTa>aGa,5,199,1,131
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF507,22847,19,32845717,32845717,Nonsense_Mutation,SNP,C,T,c.(1981-1983)Cga>Tga,5,190,0,72
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PEPD,5184,19,33904511,33904511,Missense_Mutation,SNP,C,T,c.(709-711)cGc>cAc,6,443,0,196
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,UBA2,10054,19,34960080,34960080,Missense_Mutation,SNP,G,A,c.(1876-1878)cGt>cAt,5,101,0,65
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GRAMD1A,57655,19,35500817,35500817,Missense_Mutation,SNP,G,A,c.(265-267)cGt>cAt,5,259,0,129
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LGI4,163175,19,35617294,35617294,Silent,SNP,G,A,c.(1177-1179)acC>acT,6,443,0,236
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,WDR87,83889,19,38379258,38379258,Nonsense_Mutation,SNP,G,A,c.(4936-4938)Caa>Taa,5,259,0,156
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RYR1,6261,19,38966056,38966056,Missense_Mutation,SNP,G,A,c.(4258-4260)cGc>cAc,9,296,0,232
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RYR1,6261,19,39075660,39075660,Silent,SNP,C,T,c.(14722-14724)gaC>gaT,6,442,0,224
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SELV,0,19,40006499,40006499,Missense_Mutation,SNP,C,T,c.(646-648)tCg>tTg,5,165,0,164
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,EID2B,126272,19,40023226,40023226,Missense_Mutation,SNP,G,A,c.(217-219)Ccg>Tcg,4,125,0,114
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ERF,2077,19,42754574,42754574,Missense_Mutation,SNP,C,T,c.(166-168)Gtc>Atc,6,368,0,172
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MEGF8,1954,19,42856569,42856569,Missense_Mutation,SNP,G,A,c.(3310-3312)cGg>cAg,5,211,0,95
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ERCC1,2067,19,45916813,45916813,Intron,SNP,C,T,,5,208,0,144
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,STRN4,29888,19,47236450,47236450,Missense_Mutation,SNP,G,A,c.(583-585)Cgg>Tgg,7,586,0,193
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GLTSCR1,29998,19,48183207,48183207,Silent,SNP,C,T,c.(778-780)agC>agT,4,83,0,74
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GLTSCR1,29998,19,48198705,48198705,Missense_Mutation,SNP,G,A,c.(3160-3162)Ggg>Agg,6,283,1,146
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CCDC114,93233,19,48821638,48821638,Intron,SNP,C,A,,5,84,0,57
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,C19orf73,55150,19,49622093,49622093,Missense_Mutation,SNP,G,A,c.(187-189)Ccc>Tcc,4,104,0,67
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TRPM4,54795,19,49692002,49692002,Silent,SNP,G,A,c.(1846-1848)gcG>gcA,6,344,0,132
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SCAF1,58506,19,50155728,50155728,Silent,SNP,G,A,c.(2080-2082)acG>acA,4,80,0,54
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FAM71E1,112703,19,50979486,50979486,Missense_Mutation,SNP,G,A,c.(160-162)Cgt>Tgt,6,257,0,124
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,EMC10,284361,19,50983910,50983910,Missense_Mutation,SNP,G,A,c.(475-477)Gtg>Atg,6,407,1,169
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ETFB,2109,19,51856531,51856531,Missense_Mutation,SNP,G,A,c.(229-231)aCc>aTc,8,554,0,330
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LENG8,114823,19,54966656,54966656,Missense_Mutation,SNP,G,A,c.(934-936)cGc>cAc,7,731,0,314
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ZNF814,730051,19,58385832,58385832,Missense_Mutation,SNP,A,G,c.(925-927)gTt>gCt,4,95,0,114
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SLC4A11,83959,20,3214752,3214752,Missense_Mutation,SNP,G,A,c.(547-549)gCc>gTc,5,444,0,274
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CDC25B,994,20,3781449,3781449,Silent,SNP,C,T,c.(517-519)gaC>gaT,6,477,0,159
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ADRA1D,146,20,4228680,4228680,Missense_Mutation,SNP,G,A,c.(925-927)Cgc>Tgc,6,302,0,160
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ADRA1D,146,20,4228695,4228695,Silent,SNP,G,A,c.(910-912)Ctg>Ttg,6,287,0,151
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FERMT1,55612,20,6064802,6064802,Missense_Mutation,SNP,G,A,c.(1603-1605)Cgg>Tgg,9,721,0,303
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MYLK2,85366,20,30421577,30421577,Missense_Mutation,SNP,G,A,c.(1768-1770)Gca>Aca,6,396,0,169
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,EFCAB8,388795,20,31494663,31494663,Missense_Mutation,SNP,G,A,c.(1171-1173)Gat>Aat,6,250,0,143
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,AHCY,191,20,32883320,32883320,Missense_Mutation,SNP,G,A,c.(100-102)Cgt>Tgt,7,674,0,277
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MYH7B,57644,20,33570258,33570258,Intron,SNP,C,T,,5,289,0,150
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FAM83C,128876,20,33875635,33875635,Missense_Mutation,SNP,G,A,c.(946-948)cCg>cTg,7,529,1,245
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RPRD1B,58490,20,36687838,36687838,Missense_Mutation,SNP,G,A,c.(571-573)Gca>Aca,5,199,1,89
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TOX2,84969,20,42635230,42635230,Missense_Mutation,SNP,C,T,c.(235-237)cCc>cTc,6,170,0,81
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PCK1,5105,20,56137814,56137814,Missense_Mutation,SNP,G,A,c.(469-471)Ggc>Agc,7,641,0,270
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SS18L1,26039,20,60736648,60736648,Intron,SNP,G,A,,4,91,0,58
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TPD52L2,7165,20,62521279,62521279,Missense_Mutation,SNP,C,T,c.(601-603)tCg>tTg,7,408,0,144
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,BACH1,571,21,30693791,30693791,Missense_Mutation,SNP,G,A,c.(190-192)Gta>Ata,7,421,0,156
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ATP5O,539,21,35279104,35279104,Intron,SNP,G,C,,4,187,0,97
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RRP1,8568,21,45223543,45223543,Missense_Mutation,SNP,G,A,c.(1273-1275)cGt>cAt,6,457,0,171
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TRAPPC10,7109,21,45518454,45518454,Intron,SNP,C,T,,5,135,0,103
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ITGB2,3689,21,46328037,46328037,Intron,SNP,G,A,,6,363,0,102
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,COL18A1,80781,21,46898250,46898250,Missense_Mutation,SNP,G,A,c.(2476-2478)Ggt>Agt,6,535,0,286
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,COL6A1,1291,21,47423591,47423591,Silent,SNP,C,T,c.(2749-2751)aaC>aaT,7,702,0,342
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LSS,4047,21,47612697,47612697,Intron,SNP,C,T,,10,481,1,352
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PCNT,5116,21,47845882,47845882,Silent,SNP,G,A,c.(7315-7317)acG>acA,6,450,0,224
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ATP6V1E1,529,22,18101797,18101797,Intron,SNP,T,C,,4,197,0,102
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DGCR8,54487,22,20073961,20073961,Missense_Mutation,SNP,G,A,c.(475-477)Gtg>Atg,5,198,0,129
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RIMBP3,85376,22,20458146,20458146,Silent,SNP,G,A,c.(3154-3156)taC>taT,15,2509,0,1271
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KLHL22,84861,22,20819486,20819486,Silent,SNP,C,T,c.(769-771)ctG>ctA,6,437,0,197
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,AIFM3,150209,22,21332282,21332282,Missense_Mutation,SNP,G,A,c.(1465-1467)Gct>Act,6,215,0,91
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,HIC2,23119,22,21800438,21800438,Silent,SNP,C,T,c.(1252-1254)agC>agT,4,82,0,89
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,IGLV10-54,28772,22,22569646,22569646,RNA,SNP,G,A,,4,29,0,40
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GGT5,2687,22,24615986,24615986,Silent,SNP,C,T,c.(1711-1713)gtG>gtA,5,331,0,169
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,HSCB,150274,22,29138186,29138186,Missense_Mutation,SNP,G,A,c.(103-105)Gga>Aga,7,670,0,260
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MTFP1,51537,22,30822783,30822783,Missense_Mutation,SNP,G,A,c.(145-147)aGc>aAc,6,382,0,232
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MORC2,22880,22,31330902,31330902,Nonsense_Mutation,SNP,G,A,c.(2059-2061)Cga>Tga,5,426,0,249
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,DEPDC5,9681,22,32270301,32270301,Silent,SNP,G,A,c.(3577-3579)ccG>ccA,8,360,0,208
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TRIOBP,11078,22,38151607,38151607,Silent,SNP,G,A,c.(5626-5628)cgG>cgA,8,646,0,322
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CACNA1I,8911,22,40045864,40045864,Silent,SNP,C,T,c.(1924-1926)ttC>ttT,6,369,0,171
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RANGAP1,5905,22,41657554,41657554,Missense_Mutation,SNP,G,A,c.(511-513)Cgg>Tgg,6,397,0,189
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PMM1,5372,22,41985805,41985805,Missense_Mutation,SNP,G,A,c.(4-6)gCa>gTa,7,301,0,128
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PHF21B,112885,22,45279089,45279089,Silent,SNP,G,A,c.(1471-1473)ggC>ggT,7,489,0,223
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GTSE1,51512,22,46719142,46719142,Silent,SNP,G,A,c.(1486-1488)tcG>tcA,6,384,1,169
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,MLC1,23209,22,50502619,50502619,Silent,SNP,G,A,c.(901-903)taC>taT,7,372,1,328
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,LMF2,91289,22,50944883,50944883,Silent,SNP,C,T,c.(424-426)ccG>ccA,4,50,0,46
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SLC9A7,84679,X,46510553,46510553,Missense_Mutation,SNP,C,T,c.(1339-1341)Gga>Aga,4,104,0,44
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ARAF,369,X,47428168,47428168,Silent,SNP,G,A,c.(1126-1128)ccG>ccA,4,159,0,66
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,SUV39H1,6839,X,48559040,48559040,Nonsense_Mutation,SNP,C,T,c.(724-726)Cga>Tga,4,164,0,63
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,PRAF2,11230,X,48930166,48930166,Missense_Mutation,SNP,G,A,c.(322-324)gCc>gTc,5,412,1,189
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,GPKOW,27238,X,48972585,48972585,Missense_Mutation,SNP,G,A,c.(1006-1008)Ctt>Ttt,4,66,0,40
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,XIST,7503,X,73063596,73063596,lincRNA,SNP,G,A,,3,24,0,35
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TCEAL3,85012,X,102863982,102863982,5'UTR,SNP,G,A,,3,10,0,17
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,TCEAL3,85012,X,102863990,102863990,5'UTR,SNP,G,A,,3,13,0,20
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ABCD1,215,X,152991283,152991283,Missense_Mutation,SNP,G,A,c.(562-564)Ggg>Agg,5,238,0,114
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,ARHGAP4,393,X,153184440,153184440,Missense_Mutation,SNP,C,T,c.(877-879)cGc>cAc,5,239,0,109
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,UTY,7404,Y,15467231,15467231,Silent,SNP,G,A,c.(1420-1422)aaC>aaT,5,255,0,148
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KCTD3,51133,1,215747139,215747140,Frame_Shift_Ins,INS,-,CAAGA,c.(94-96)tcafs,5,148,,
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RAF1,5894,3,12626258,12626262,Intron,DEL,AAAAC,-,,4,127,,
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CADPS,8618,3,62860162,62860163,Intron,INS,-,T,,0,10,,
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,RP11-511B23.3,0,12,93575152,93575160,lincRNA,DEL,TCTGCCTAG,-,,17,300,,
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,Unknown,0,15,31086394,31086394,IGR,DEL,G,-,,26,79,,
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,FUS,2521,16,31205743,31205747,IGR,DEL,GGGAC,-,,3,86,,
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,KRT9,3857,17,39723932,39723933,In_Frame_Ins,INS,-,CCCACT,c.(1462-1467)ggatcc>ggaAGTGGGtcc,11,105,,
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,CD300C,10871,17,72537762,72537763,Frame_Shift_Ins,INS,-,T,c.(640-642)agcfs,42,175,,
RP-1532_PCProject_0608_T2_v4_Exome_OnPrem,NPLOC4,55666,17,79596790,79596790,Frame_Shift_Del,DEL,T,-,c.(55-57)acafs,43,157,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TTLL10,254173,1,1111708,1111708,Intron,SNP,C,T,,8,247,1,210
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,DVL1,1855,1,1277180,1277180,Missense_Mutation,SNP,G,A,c.(472-474)Cgg>Tgg,4,58,0,43
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TP73,7161,1,3624176,3624176,Missense_Mutation,SNP,C,T,c.(250-252)Ccc>Tcc,6,120,0,86
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SLC2A5,6518,1,9097751,9097751,Missense_Mutation,SNP,G,A,c.(1399-1401)aCg>aTg,12,111,0,151
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,RP3-510D11.2,0,1,9242283,9242283,lincRNA,SNP,C,A,,7,94,0,149
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,EPHA2,1969,1,16464784,16464784,Missense_Mutation,SNP,G,A,c.(964-966)tCg>tTg,6,197,1,246
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SPATA21,374955,1,16751610,16751610,Intron,SNP,T,C,,8,37,0,36
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SRRM1,10250,1,24981504,24981504,Missense_Mutation,SNP,G,A,c.(1198-1200)aGg>aAg,5,168,0,230
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,WDTC1,23038,1,27632789,27632789,Missense_Mutation,SNP,G,A,c.(1948-1950)cGg>cAg,31,139,0,174
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,KPNA6,23633,1,32636379,32636379,Missense_Mutation,SNP,G,C,c.(1495-1497)Gag>Cag,8,77,0,119
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,COL8A2,1296,1,36564024,36564024,Missense_Mutation,SNP,G,T,c.(1258-1260)Cct>Act,22,121,0,183
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,COL9A2,1298,1,40769232,40769232,Silent,SNP,C,T,c.(1516-1518)gtG>gtA,10,193,0,179
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,IPO13,9670,1,44424513,44424513,Missense_Mutation,SNP,T,A,c.(1978-1980)caT>caA,5,82,0,72
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,LEPR,3953,1,66038036,66038036,Missense_Mutation,SNP,T,A,c.(397-399)cTa>cAa,7,86,0,97
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,LEPR,3953,1,66038037,66038037,Silent,SNP,A,G,c.(397-399)ctA>ctG,7,86,0,98
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,IL23R,149233,1,67672680,67672680,Missense_Mutation,SNP,C,A,c.(739-741)aCa>aAa,5,71,0,149
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TTF2,8458,1,117618099,117618099,Missense_Mutation,SNP,G,A,c.(892-894)gGc>gAc,7,69,0,103
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,LOR,4014,1,153233779,153233779,Silent,SNP,C,G,c.(352-354)ggC>ggG,4,48,0,67
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SHC1,6464,1,154936735,154936735,Intron,SNP,G,A,,6,100,0,137
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,DCAF8,50717,1,160210016,160210016,Missense_Mutation,SNP,C,T,c.(193-195)cGa>cAa,7,185,0,126
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ATP1B1,481,1,169100761,169100761,Missense_Mutation,SNP,C,T,c.(880-882)Cgt>Tgt,4,46,0,93
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SOAT1,6646,1,179271905,179271905,Missense_Mutation,SNP,C,A,c.(85-87)cCt>cAt,4,41,0,35
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,RGSL1,353299,1,182429188,182429188,Missense_Mutation,SNP,C,A,c.(220-222)cCt>cAt,5,79,0,63
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,RCOR3,55758,1,211452630,211452630,Missense_Mutation,SNP,A,G,c.(517-519)tAt>tGt,4,58,0,74
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,NVL,4931,1,224500729,224500729,Intron,SNP,C,A,,5,105,0,64
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,MAP4K3,8491,2,39536619,39536619,Missense_Mutation,SNP,C,T,c.(1039-1041)Gaa>Aaa,5,74,0,72
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,KCNG3,170850,2,42671475,42671475,Missense_Mutation,SNP,G,A,c.(910-912)Cgt>Tgt,6,37,0,88
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PLEKHH2,130271,2,43937629,43937629,Splice_Site,SNP,G,T,c.(2215-2217)aGt>aTt,7,74,0,108
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,FOXD4L1,200350,2,114256967,114256967,Missense_Mutation,SNP,A,C,c.(133-135)gAg>gCg,5,171,0,435
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CHN1,1123,2,175689179,175689179,Missense_Mutation,SNP,T,C,c.(694-696)cAg>cGg,4,33,0,77
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PDE11A,50940,2,178764307,178764307,Intron,SNP,C,T,,4,44,0,43
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TTN,7273,2,179612678,179612678,Intron,SNP,G,C,,4,24,0,109
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,USP37,57695,2,219328041,219328041,Silent,SNP,A,G,c.(2515-2517)Tta>Cta,4,69,0,81
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,Unknown,0,2,230889632,230889632,IGR,SNP,A,G,,4,90,0,16
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,DGKD,8527,2,234363033,234363033,Intron,SNP,G,A,,5,119,0,124
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,MROH2A,339766,2,234704949,234704949,Silent,SNP,G,T,c.(1240-1242)gtG>gtT,7,115,0,34
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TOP2B,7155,3,25660295,25660295,Missense_Mutation,SNP,G,C,c.(3109-3111)Caa>Gaa,4,21,0,45
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,RPL29,6159,3,52027930,52027930,Silent,SNP,C,A,c.(313-315)ggG>ggT,5,128,0,119
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SLC25A26,115286,3,66413324,66413324,Nonsense_Mutation,SNP,G,A,c.(274-276)tGg>tAg,4,78,0,67
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,GOLGB1,2804,3,121388119,121388119,Missense_Mutation,SNP,G,C,c.(9244-9246)caC>caG,9,80,0,116
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SLC12A8,84561,3,124829087,124829087,Silent,SNP,C,T,c.(1003-1005)ctG>ctA,5,99,0,92
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TF,7018,3,133473450,133473450,Missense_Mutation,SNP,G,T,c.(436-438)gGg>gTg,10,91,0,135
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SLC2A2,6514,3,170732314,170732314,Silent,SNP,T,G,c.(313-315)gcA>gcC,5,63,0,176
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SPATA16,83893,3,172835272,172835272,Missense_Mutation,SNP,G,A,c.(250-252)Cgg>Tgg,5,74,0,289
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TP63,8626,3,189562092,189562092,Intron,SNP,G,C,,6,71,0,33
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,RGS12,6002,4,3318422,3318422,Silent,SNP,C,T,c.(523-525)gcC>gcT,4,59,0,125
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SLC34A2,10568,4,25674747,25674747,Missense_Mutation,SNP,G,C,c.(1087-1089)Gct>Cct,4,77,0,211
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PRDM8,56978,4,81123375,81123375,Silent,SNP,C,T,c.(757-759)agC>agT,6,154,1,109
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,FAM160A1,729830,4,152583880,152583880,Missense_Mutation,SNP,G,A,c.(3097-3099)Ggt>Agt,5,74,0,75
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,FAT1,2195,4,187549843,187549843,Silent,SNP,A,G,c.(4396-4398)ccT>ccC,7,58,0,177
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,NIPBL,25836,5,36955662,36955662,Missense_Mutation,SNP,C,G,c.(151-153)aaC>aaG,6,60,0,172
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SV2C,22987,5,75648954,75648954,Splice_Site,SNP,G,T,c.e13-1,5,110,0,85
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,AP3B1,8546,5,77437070,77437070,Missense_Mutation,SNP,T,C,c.(1546-1548)gAt>gGt,11,67,0,154
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ARSB,411,5,78135194,78135194,Missense_Mutation,SNP,C,T,c.(1198-1200)Gtg>Atg,4,65,0,172
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,H2AFY,9555,5,134705726,134705726,Splice_Site,SNP,C,T,c.(277-279)caG>caA,4,82,0,87
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PCDHB12,56124,5,140589684,140589684,Missense_Mutation,SNP,C,T,c.(1204-1206)aCt>aTt,5,103,0,187
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PCDH12,51294,5,141335611,141335611,Silent,SNP,G,A,c.(1804-1806)ggC>ggT,8,100,0,99
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TMEM14B,81853,6,10759302,10759302,IGR,SNP,C,G,,3,21,0,16
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,DPCR1,135656,6,30918380,30918380,Missense_Mutation,SNP,C,G,c.(2137-2139)aaC>aaG,8,146,0,312
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PGC,5225,6,41708822,41708822,Intron,SNP,A,G,,9,108,0,70
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PKHD1,5314,6,51930826,51930826,Missense_Mutation,SNP,G,T,c.(826-828)aaC>aaA,5,60,0,149
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,KCNQ5,56479,6,73787172,73787172,Silent,SNP,G,A,c.(742-744)agG>agA,6,66,1,144
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PREP,5550,6,105729763,105729763,Nonsense_Mutation,SNP,G,A,c.(1696-1698)Cag>Tag,8,28,0,50
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SCML4,256380,6,108068063,108068063,Missense_Mutation,SNP,G,A,c.(316-318)gCg>gTg,5,94,0,92
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CLVS2,134829,6,123332236,123332236,Missense_Mutation,SNP,A,G,c.(496-498)Aac>Gac,4,39,0,36
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SHPRH,257218,6,146271518,146271518,Silent,SNP,C,T,c.(862-864)acG>acA,4,71,0,161
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SDK1,221935,7,4011118,4011118,Missense_Mutation,SNP,C,T,c.(1735-1737)Cct>Tct,17,106,0,120
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CDK14,5218,7,90747435,90747435,Silent,SNP,C,T,c.(1348-1350)agC>agT,5,55,0,98
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,LMOD2,442721,7,123296195,123296195,Missense_Mutation,SNP,C,A,c.(178-180)Ccc>Acc,6,111,0,207
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SLC13A4,26266,7,135390901,135390901,Silent,SNP,G,T,c.(511-513)tcC>tcA,7,85,0,53
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PRSS3P2,154754,7,142479971,142479971,RNA,SNP,G,C,,6,146,1,245
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SDCBP,6386,8,59483446,59483446,Splice_Site,SNP,G,A,c.(52-54)Gct>Act,4,51,0,98
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TTPA,7274,8,63998582,63998582,5'UTR,SNP,C,T,,30,117,0,173
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TRPA1,8989,8,72958748,72958748,Splice_Site,SNP,G,T,c.(2059-2061)aaC>aaA,6,96,0,107
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,OSGIN2,734,8,90921838,90921838,5'UTR,SNP,T,C,,4,64,0,73
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PHF20L1,51105,8,133854839,133854839,Nonsense_Mutation,SNP,G,T,c.(2467-2469)Gag>Tag,5,48,0,76
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ST3GAL1,6482,8,134472092,134472092,Missense_Mutation,SNP,G,A,c.(937-939)aCg>aTg,13,197,0,103
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,LRRC14,9684,8,145746686,145746686,Nonsense_Mutation,SNP,G,T,c.(1306-1308)Gag>Tag,6,133,0,102
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,BNC2,54796,9,16727801,16727801,Silent,SNP,G,C,c.(322-324)tcC>tcG,3,36,0,113
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ZCCHC6,79670,9,88967981,88967981,Missense_Mutation,SNP,C,T,c.(133-135)aGt>aAt,5,51,0,119
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PTBP3,9991,9,115060147,115060147,Missense_Mutation,SNP,G,A,c.(91-93)aCc>aTc,4,74,0,114
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ATP5C1,509,10,7830166,7830166,5'UTR,SNP,C,G,,20,100,0,154
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,DHTKD1,55526,10,12142174,12142174,Intron,SNP,C,T,,8,69,0,47
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,C10orf112,0,10,19493323,19493323,Missense_Mutation,SNP,G,A,c.(79-81)Gga>Aga,6,60,0,90
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SVIL,6840,10,29813539,29813539,Silent,SNP,G,C,c.(2446-2448)gcC>gcG,6,124,0,199
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,MTPAP,55149,10,30638163,30638163,Silent,SNP,C,T,c.(40-42)ctG>ctA,8,254,0,203
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ARHGAP22,58504,10,49812814,49812814,Missense_Mutation,SNP,T,C,c.(28-30)Agg>Ggg,22,150,0,145
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,HK1,3098,10,71129020,71129020,Missense_Mutation,SNP,G,A,c.(619-621)Gtg>Atg,5,129,0,311
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,NODAL,4838,10,72195436,72195436,Missense_Mutation,SNP,G,T,c.(496-498)cCt>cAt,6,207,0,318
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TM9SF3,56889,10,98321730,98321730,Intron,SNP,C,T,,3,9,0,37
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,FRAT2,23401,10,99094280,99094280,Missense_Mutation,SNP,C,A,c.(49-51)gGg>gTg,5,92,0,84
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,FRAT2,23401,10,99094281,99094281,Missense_Mutation,SNP,C,G,c.(49-51)Ggg>Cgg,5,92,0,83
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,R3HCC1L,27291,10,99969367,99969367,Missense_Mutation,SNP,T,C,c.(1495-1497)gTt>gCt,4,71,0,124
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SEC31B,25956,10,102266108,102266108,Missense_Mutation,SNP,C,A,c.(850-852)caG>caT,5,122,0,92
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,VAX1,11023,10,118897523,118897523,Missense_Mutation,SNP,G,T,c.(43-45)gaC>gaA,5,215,0,272
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,HBB,3043,11,5248170,5248170,Missense_Mutation,SNP,C,T,c.(82-84)Gcc>Acc,5,124,0,293
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,MYOD1,4654,11,17741600,17741600,Missense_Mutation,SNP,G,T,c.(271-273)Ggc>Tgc,10,86,0,96
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,WT1,7490,11,32456778,32456778,Silent,SNP,G,T,c.(112-114)ggC>ggA,5,106,0,109
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,OR5T3,390154,11,56020260,56020260,Silent,SNP,C,T,c.(583-585)agC>agT,6,47,0,138
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,MPEG1,219972,11,58978641,58978641,Silent,SNP,G,T,c.(1696-1698)gcC>gcA,22,131,0,152
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TMEM132A,54972,11,60703468,60703468,Missense_Mutation,SNP,G,A,c.(2161-2163)Ggt>Agt,7,89,0,82
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,INCENP,3619,11,61914294,61914294,Silent,SNP,G,C,c.(2122-2124)cgG>cgC,12,262,1,305
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SCGB2A1,4246,11,61977980,61977980,Missense_Mutation,SNP,G,A,c.(151-153)Gac>Aac,4,37,0,78
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,AHNAK,79026,11,62292396,62292396,Missense_Mutation,SNP,C,T,c.(9493-9495)Gga>Aga,5,131,0,221
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,AHNAK,79026,11,62296983,62296983,Silent,SNP,A,G,c.(4906-4908)Ttg>Ctg,4,57,0,83
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SLC22A12,116085,11,64367174,64367174,Missense_Mutation,SNP,G,T,c.(1096-1098)gGc>gTc,5,137,0,114
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,EHD1,10938,11,64641959,64641959,Silent,SNP,G,A,c.(436-438)Ctg>Ttg,5,101,0,79
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,NPAS4,266743,11,66191132,66191132,Silent,SNP,T,C,c.(892-894)Tta>Cta,7,65,0,125
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ADRBK1,156,11,67053954,67053954,3'UTR,SNP,C,T,,7,43,0,41
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PPP6R3,55291,11,68321613,68321613,Splice_Site,SNP,C,A,c.(619-621)Cga>Aga,5,36,0,64
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PPP6R3,55291,11,68321721,68321721,Missense_Mutation,SNP,G,A,c.(727-729)Gaa>Aaa,5,50,0,78
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,C2CD3,26005,11,73748588,73748588,Missense_Mutation,SNP,G,T,c.(5815-5817)cCt>cAt,8,132,0,271
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SERPINH1,871,11,75277654,75277654,Missense_Mutation,SNP,C,T,c.(259-261)gCg>gTg,5,126,0,195
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ACAT1,38,11,108014764,108014764,Missense_Mutation,SNP,C,A,c.(994-996)gCt>gAt,5,79,0,221
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,KMT2A,4297,11,118355669,118355669,Nonsense_Mutation,SNP,T,A,c.(4309-4311)tgT>tgA,4,73,0,170
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,KMT2A,4297,11,118355673,118355673,Missense_Mutation,SNP,A,T,c.(4315-4317)Agt>Tgt,4,71,0,179
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,HMBS,3145,11,118955828,118955828,Intron,SNP,C,A,,7,175,0,198
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,OR6T1,219874,11,123814311,123814311,Missense_Mutation,SNP,G,A,c.(235-237)Ccc>Tcc,9,66,0,121
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,GLB1L3,112937,11,134177059,134177059,Missense_Mutation,SNP,G,C,c.(916-918)tgG>tgC,6,70,0,83
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PDE3A,5139,12,20725086,20725086,Intron,SNP,G,C,,4,33,0,54
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,RECQL,5965,12,21644621,21644621,Missense_Mutation,SNP,T,C,c.(46-48)Agt>Ggt,4,52,0,81
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,LRRK2,120892,12,40715932,40715932,Missense_Mutation,SNP,G,A,c.(5266-5268)Gac>Aac,4,48,0,120
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ANO6,196527,12,45771887,45771887,Nonsense_Mutation,SNP,G,T,c.(1156-1158)Gga>Tga,4,77,0,166
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SCN8A,6334,12,52174432,52174432,Splice_Site,SNP,G,A,c.e21-1,6,201,0,147
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,MBD6,114785,12,57920677,57920677,Silent,SNP,T,A,c.(1747-1749)ccT>ccA,4,92,0,51
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,WIF1,11197,12,65445209,65445209,Missense_Mutation,SNP,C,T,c.(1060-1062)Gcc>Acc,15,133,0,85
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,BEST3,144453,12,70048883,70048883,Missense_Mutation,SNP,C,T,c.(1810-1812)gGa>gAa,9,42,0,68
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ATXN2,6311,12,112036803,112036803,Silent,SNP,C,T,c.(514-516)caG>caA,9,244,1,160
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,COQ5,84274,12,120947847,120947847,Silent,SNP,C,A,c.(652-654)ggG>ggT,5,108,0,236
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,KDM2B,84678,12,122017965,122017965,Intron,SNP,G,A,,4,76,0,84
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,DDX51,317781,12,132628363,132628363,Silent,SNP,C,T,c.(394-396)ccG>ccA,5,160,0,152
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,DDX51,317781,12,132628448,132628448,Missense_Mutation,SNP,T,C,c.(310-312)aAc>aGc,5,219,0,225
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,GOLGA3,2802,12,133384479,133384479,Missense_Mutation,SNP,G,T,c.(1174-1176)agC>agA,4,65,0,29
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,BRCA2,675,13,32970165,32970165,Intron,SNP,C,A,,8,132,0,18
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TMCO3,55002,13,114202684,114202684,Missense_Mutation,SNP,G,A,c.(1837-1839)Gtc>Atc,8,185,0,151
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CTSG,1511,14,25045430,25045430,5'UTR,SNP,C,A,,6,100,0,105
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SOS2,6655,14,50605474,50605474,Silent,SNP,G,A,c.(2812-2814)acC>acT,4,12,0,35
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PLEKHH1,57475,14,68028743,68028743,Missense_Mutation,SNP,G,A,c.(496-498)Gcg>Acg,5,114,0,72
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,FAM161B,145483,14,74407756,74407756,Splice_Site,SNP,C,A,c.(1273-1275)Gat>Tat,7,131,0,130
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,DLST,1743,14,75356045,75356045,Missense_Mutation,SNP,G,C,c.(265-267)tgG>tgC,5,90,0,125
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,C14orf159,80017,14,91639684,91639684,Missense_Mutation,SNP,A,G,c.(493-495)Acg>Gcg,17,123,0,157
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,APOPT1,84334,14,104040550,104040550,Intron,SNP,T,C,,4,90,0,85
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,C14orf80,283643,14,105960247,105960247,Missense_Mutation,SNP,A,G,c.(661-663)Agg>Ggg,8,177,0,103
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,GOLGA6L6,727832,15,20740221,20740221,Missense_Mutation,SNP,T,G,c.(1528-1530)gAg>gCg,5,127,1,308
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PAK6,56924,15,40532860,40532860,De_novo_Start_OutOfFrame,SNP,G,A,,6,199,0,117
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PLCB2,5330,15,40582215,40582215,Intron,SNP,C,G,,4,108,0,59
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,RP11-321F6.1,0,15,66956792,66956792,Splice_Site,SNP,T,C,c.e2+2,4,44,0,32
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SLC28A1,9154,15,85467262,85467262,Missense_Mutation,SNP,T,A,c.(1003-1005)cTc>cAc,23,151,0,252
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,RP11-89K11.1,0,15,102279899,102279899,Intron,SNP,C,A,,5,82,1,58
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CREBBP,1387,16,3778500,3778500,Missense_Mutation,SNP,G,A,c.(6547-6549)gCg>gTg,6,215,0,351
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CREBBP,1387,16,3781376,3781376,Silent,SNP,C,A,c.(4987-4989)ggG>ggT,7,238,1,339
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,POLR3E,55718,16,22339917,22339917,Intron,SNP,A,G,,18,72,0,91
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TNRC6A,27327,16,24801216,24801216,Missense_Mutation,SNP,G,A,c.(1252-1254)gGt>gAt,7,27,1,46
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,DNAH9,1770,17,11511518,11511518,Missense_Mutation,SNP,C,T,c.(490-492)Cgg>Tgg,4,74,0,95
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,KRTAP1-3,81850,17,39191005,39191005,Silent,SNP,G,A,c.(67-69)agC>agT,7,149,0,221
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,EZH1,2145,17,40870605,40870605,Silent,SNP,G,A,c.(796-798)ccC>ccT,6,86,0,86
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TUBD1,51174,17,57937745,57937745,Missense_Mutation,SNP,C,T,c.(1300-1302)Gag>Aag,6,97,0,107
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,BCAS3,54828,17,59001869,59001869,Intron,SNP,C,A,,9,69,0,85
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,GRIN2C,2905,17,72838856,72838856,Silent,SNP,G,A,c.(3418-3420)gcC>gcT,11,88,0,70
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ENOSF1,55556,18,712356,712356,Intron,SNP,G,T,,9,297,1,347
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,GATA6,2627,18,19763004,19763004,Splice_Site,SNP,G,A,c.(1618-1620)ggG>ggA,4,59,0,216
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,KCTD1,284252,18,24128324,24128324,Intron,SNP,T,C,,4,75,0,41
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,DSC1,1823,18,28720197,28720197,Missense_Mutation,SNP,G,C,c.(1327-1329)tCt>tGt,8,48,0,129
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CCDC178,374864,18,30908089,30908089,Intron,SNP,C,G,,4,82,0,19
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CCDC178,374864,18,30908091,30908091,Intron,SNP,G,A,,5,80,0,19
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CDH7,1005,18,63530170,63530170,Intron,SNP,G,A,,4,18,0,78
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ZNF516,9658,18,74154841,74154841,Missense_Mutation,SNP,G,A,c.(169-171)aCg>aTg,5,121,0,191
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,S1PR4,8698,19,3179131,3179131,Missense_Mutation,SNP,C,G,c.(340-342)gCg>gGg,11,93,0,72
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,QTRT1,81890,19,10818169,10818169,Intron,SNP,G,T,,9,46,0,45
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SPC24,147841,19,11258548,11258548,Nonsense_Mutation,SNP,G,A,c.(433-435)Caa>Taa,6,89,0,128
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CACNA1A,773,19,13370422,13370422,Silent,SNP,A,G,c.(4342-4344)gcT>gcC,6,62,0,94
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ZNF430,80264,19,21240459,21240459,Missense_Mutation,SNP,A,G,c.(1345-1347)Ata>Gta,5,87,1,173
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ZNF729,100287226,19,22498344,22498344,Missense_Mutation,SNP,G,A,c.(2125-2127)Gag>Aag,6,73,0,194
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ZNF91,7644,19,23542393,23542393,Missense_Mutation,SNP,C,T,c.(3388-3390)Gga>Aga,4,55,0,118
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,IRGQ,126298,19,44098995,44098995,Missense_Mutation,SNP,C,T,c.(496-498)Gcg>Acg,7,45,0,57
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,NPAS1,4861,19,47543738,47543738,Silent,SNP,G,C,c.(997-999)ctG>ctC,16,145,0,114
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,KLK2,3817,19,51376721,51376721,5'UTR,SNP,T,G,,16,126,0,131
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ZNF765,91661,19,53912017,53912017,Silent,SNP,A,G,c.(1207-1209)agA>agG,4,78,1,166
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CSNK2A1,1457,20,485847,485847,Missense_Mutation,SNP,C,T,c.(127-129)cGa>cAa,5,63,0,131
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SIGLEC1,6614,20,3674878,3674878,Missense_Mutation,SNP,G,T,c.(3244-3246)ttC>ttA,5,27,0,28
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ARFGAP1,55738,20,61910599,61910599,Intron,SNP,G,T,,5,103,0,46
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CHRNA4,1137,20,61975172,61975172,IGR,SNP,G,A,,8,71,0,118
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,KCNQ2,3785,20,62062719,62062719,Silent,SNP,C,A,c.(1120-1122)tcG>tcT,6,145,1,193
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TIAM1,7074,21,32617951,32617951,Silent,SNP,G,A,c.(1435-1437)agC>agT,4,48,0,32
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,AIRE,326,21,45713682,45713682,Missense_Mutation,SNP,C,A,c.(1288-1290)cCt>cAt,26,149,0,181
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CECR2,27443,22,18032550,18032550,3'UTR,SNP,G,T,,6,116,0,82
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,EGFL6,25975,X,13636058,13636058,Missense_Mutation,SNP,G,A,c.(988-990)Gga>Aga,4,47,0,93
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,DMD,1756,X,31515022,31515022,Silent,SNP,C,G,c.(8428-8430)ctG>ctC,5,57,0,147
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CYBB,1536,X,37655237,37655237,Missense_Mutation,SNP,C,A,c.(517-519)Ctg>Atg,4,65,0,44
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CASK,8573,X,41383261,41383261,Missense_Mutation,SNP,C,A,c.(2545-2547)gaG>gaT,4,60,1,93
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,USP27X,389856,X,49643269,49643269,5'Flank,SNP,G,C,,9,93,0,164
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PAGE2,203569,X,55116486,55116486,Silent,SNP,C,T,c.(31-33)tcC>tcT,3,20,0,39
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,FAM199X,139231,X,103420443,103420443,Missense_Mutation,SNP,C,G,c.(337-339)Cct>Gct,6,26,0,81
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PCDH11Y,83259,Y,4925082,4925082,Missense_Mutation,SNP,G,A,c.(184-186)gGc>gAc,4,52,0,161
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CEPT1,10390,1,111701952,111701953,Intron,INS,-,C,,3,19,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,RNASEL,6041,1,182555632,182555632,Frame_Shift_Del,DEL,T,-,c.(310-312)agcfs,6,16,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CACNA1S,779,1,201012610,201012610,Frame_Shift_Del,DEL,T,-,c.(4846-4848)aacfs,10,57,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,THADA,63892,2,43755173,43755174,Intron,INS,-,T,,4,6,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SCN3A,6328,2,165986657,165986658,In_Frame_Ins,INS,-,AGT,c.(2713-2715)ggt>ggACTt,4,14,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,FAM208A,23272,3,56707751,56707755,Splice_Site,DEL,GTGCT,-,c.(331-336)gagcac>gac,6,16,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ADAMTS9,56999,3,64601883,64601884,Intron,INS,-,C,,4,12,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,MASP1,5648,3,186980294,186980295,Intron,INS,-,AAAAGA,,3,99,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,EVC2,132884,4,5696164,5696166,In_Frame_Del,DEL,AGA,-,c.(346-348)tctdel,7,47,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,BOD1L1,259282,4,13582563,13582564,Intron,INS,-,G,,5,6,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PROM1,8842,4,16037309,16037310,Intron,INS,-,G,,4,27,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SLC29A1,2030,6,44197581,44197582,Intron,INS,-,G,,4,19,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SIM1,6492,6,100868819,100868819,Frame_Shift_Del,DEL,T,-,c.(1012-1014)aaafs,6,41,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,AGK,55750,7,141261993,141261994,Intron,INS,-,A,,3,21,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,PKHD1L1,93035,8,110451304,110451305,Frame_Shift_Ins,INS,-,CA,c.(3940-3942)ggtfs,3,16,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TMEM245,23731,9,111853441,111853442,Intron,INS,-,T,,3,13,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,MPP7,143098,10,28345283,28345284,Intron,INS,-,TG,,3,5,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,DCDC1,341019,11,30933009,30933010,Intron,INS,-,A,,4,21,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CUL5,8065,11,107920766,107920767,Frame_Shift_Ins,INS,-,C,c.(385-387)aatfs,3,11,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ATM,472,11,108122460,108122463,Intron,DEL,TTAG,-,,4,9,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,LAYN,143903,11,111411723,111411724,Intron,INS,-,G,,2,18,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TAPBPL,55080,12,6562204,6562205,Intron,INS,-,A,,4,23,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,BEST3,144453,12,70049104,70049110,Frame_Shift_Del,DEL,CTCAGAG,-,c.(1582-1590)agctctgagfs,7,180,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TXNRD1,7296,12,104713469,104713470,Intron,INS,-,CA,,4,5,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,RNY4P30,100862673,13,50466047,50466048,RNA,DEL,CT,-,,3,12,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,DCT,1638,13,95095865,95095880,Frame_Shift_Del,DEL,GATGGCATCAGTAAAG,-,c.(1189-1206)tcctttactgatgccatcfs,3,43,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,SMTNL2,342527,17,4495771,4495772,Intron,DEL,CT,-,,7,18,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,HES7,84667,17,8026393,8026413,In_Frame_Del,DEL,GGCTGCGGTTGATGCGGTCCC,-,c.(73-96)cgggaccgcatcaaccgcagcctg>ctg,6,257,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,ACACA,31,17,35500898,35500899,Intron,INS,-,C,,5,23,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TYMS,7298,18,657726,657731,5'UTR,DEL,CCCCCG,-,,5,118,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,APBA3,9546,19,3752755,3752756,Intron,INS,-,C,,4,29,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,CPXM1,56265,20,2777045,2777051,Frame_Shift_Del,DEL,CCTCGTT,-,c.(1084-1092)aacgaggccfs,4,106,,
RP-1532_PCProject_0639_T1_v3_Exome_OnPrem,TSIX,9383,X,73046241,73046243,lincRNA,DEL,AGT,-,,4,29,,
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,HES5,388585,1,2461098,2461098,Missense_Mutation,SNP,G,A,c.(310-312)aCg>aTg,8,172,0,46
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,PTPRF,5792,1,44083480,44083480,Silent,SNP,G,A,c.(4267-4269)acG>acA,5,217,0,110
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,CSDE1,7812,1,115269643,115269643,Silent,SNP,C,T,c.(1423-1425)aaG>aaA,6,137,0,83
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,CSDE1,7812,1,115269674,115269674,Missense_Mutation,SNP,C,T,c.(1393-1395)gGg>gAg,5,129,0,88
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,TEX35,84066,1,178490027,178490027,Silent,SNP,C,T,c.(559-561)ccC>ccT,21,171,0,105
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,LAMB3,3914,1,209797042,209797042,Silent,SNP,G,A,c.(2164-2166)taC>taT,9,863,0,454
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,OR2G6,391211,1,248685053,248685053,Missense_Mutation,SNP,G,A,c.(106-108)Gtc>Atc,14,150,0,195
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,CHPF,79586,2,220405322,220405322,Nonsense_Mutation,SNP,G,A,c.(1111-1113)Cag>Tag,4,139,0,72
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,FAM124B,79843,2,225265209,225265209,Intron,SNP,G,C,,5,248,1,162
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,DGKD,8527,2,234363075,234363075,Intron,SNP,G,A,,6,291,0,168
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,ATRIP,84126,3,48505243,48505243,Silent,SNP,C,T,c.(1843-1845)gaC>gaT,6,404,0,172
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,SEMA3F,6405,3,50192547,50192547,5'Flank,SNP,G,A,,4,89,1,53
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,DTX3L,151636,3,122289446,122289446,Missense_Mutation,SNP,G,A,c.(2080-2082)Gta>Ata,9,291,0,220
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,C3orf33,285315,3,155521864,155521864,Intron,SNP,G,C,,4,10,0,14
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,ZNF595,152687,4,86588,86588,3'UTR,SNP,T,C,,4,136,0,115
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,SH3BP2,6452,4,2833685,2833685,Silent,SNP,G,A,c.(1384-1386)acG>acA,7,653,0,330
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,C4orf19,55286,4,37462198,37462198,Intron,SNP,G,C,,4,78,0,90
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,NDST4,64579,4,115763834,115763834,Intron,SNP,G,A,,4,23,0,12
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,PRSS12,8492,4,119237362,119237362,Missense_Mutation,SNP,C,T,c.(1267-1269)Gtg>Atg,5,168,0,217
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,CCDC110,256309,4,186379859,186379859,Missense_Mutation,SNP,C,T,c.(1882-1884)Gag>Aag,4,63,0,41
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,NFKBIE,4794,6,44229513,44229513,Missense_Mutation,SNP,G,A,c.(958-960)Cgg>Tgg,7,640,0,333
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,KIAA1919,91749,6,111583573,111583573,Silent,SNP,T,C,c.(139-141)agT>agC,4,167,0,158
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,TCP1,6950,6,160205851,160205851,Missense_Mutation,SNP,C,T,c.(517-519)Gta>Ata,7,281,0,206
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,FAM20C,56975,7,295968,295968,Missense_Mutation,SNP,G,A,c.(1225-1227)cGt>cAt,7,309,0,185
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,USP42,84132,7,6193447,6193447,Silent,SNP,C,T,c.(2260-2262)agC>agT,4,60,0,43
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,BZW2,28969,7,16725688,16725688,Intron,SNP,G,A,,8,422,0,235
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,ZNF479,90827,7,57194294,57194294,Intron,SNP,C,A,,6,93,0,129
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,SYPL1,6856,7,105733064,105733064,Intron,SNP,T,A,,6,84,1,38
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,TMEM178B,100507421,7,141170537,141170537,Missense_Mutation,SNP,C,G,c.(835-837)cCg>cGg,6,95,0,84
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,EPHA1,2041,7,143097047,143097047,Missense_Mutation,SNP,G,A,c.(532-534)Cgc>Tgc,6,384,1,152
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,C8orf44,56260,8,67589945,67589945,Start_Codon_SNP,SNP,T,G,c.(1-3)aTg>aGg,4,49,0,29
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,ZFP41,286128,8,144332526,144332526,Silent,SNP,C,T,c.(511-513)taC>taT,6,277,0,137
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,C9orf135,138255,9,72435930,72435930,Silent,SNP,G,A,c.(133-135)ccG>ccA,5,111,0,64
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,STXBP1,6812,9,130422343,130422343,Missense_Mutation,SNP,C,T,c.(280-282)cCg>cTg,7,336,0,351
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,CIZ1,25792,9,130941617,130941617,Missense_Mutation,SNP,G,A,c.(868-870)cCg>cTg,5,207,0,103
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,SURF4,6836,9,136234289,136234289,Silent,SNP,G,A,c.(79-81)caC>caT,8,645,0,251
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,NOTCH1,4851,9,139404226,139404226,Silent,SNP,G,A,c.(2926-2928)agC>agT,8,661,0,342
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,SORCS1,114815,10,108412285,108412285,Missense_Mutation,SNP,C,T,c.(2329-2331)tGc>tAc,10,119,0,90
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,SPRN,503542,10,135271907,135271907,Intron,SNP,C,T,,10,131,0,172
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,TNNT3,7140,11,1955843,1955843,Missense_Mutation,SNP,G,A,c.(580-582)cGc>cAc,7,474,0,375
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,H19,283120,11,2018143,2018143,RNA,SNP,C,T,,6,208,0,109
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,MACROD1,28992,11,63919822,63919822,Silent,SNP,G,A,c.(340-342)taC>taT,6,266,0,154
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,SLC22A12,116085,11,64368261,64368261,Silent,SNP,G,C,c.(1447-1449)ggG>ggC,6,586,0,382
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,NUDT8,254552,11,67397331,67397331,Silent,SNP,G,A,c.(52-54)Ctg>Ttg,4,71,0,34
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,DHCR7,1717,11,71146625,71146625,Silent,SNP,G,A,c.(1222-1224)taC>taT,8,478,0,335
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,ITGA7,3679,12,56092704,56092704,Intron,SNP,G,T,,9,276,0,215
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,KCTD10,83892,12,109895809,109895809,Silent,SNP,C,T,c.(460-462)gcG>gcA,7,148,0,92
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,ARHGEF7,8874,13,111928045,111928045,Intron,SNP,C,T,,5,181,0,165
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,DHRS4L2,317749,14,24459478,24459478,De_novo_Start_InFrame,SNP,G,A,,8,601,0,256
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,RABGGTA,5875,14,24736102,24736102,Intron,SNP,G,A,,4,116,0,90
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,HEATR5A,25938,14,31762512,31762512,Nonstop_Mutation,SNP,C,A,c.(6121-6123)tGa>tTa,4,15,0,58
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,ZNF609,23060,15,64968085,64968085,Missense_Mutation,SNP,G,A,c.(3031-3033)cGc>cAc,5,231,0,154
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,TSC2,7249,16,2136212,2136212,Missense_Mutation,SNP,A,G,c.(4681-4683)Atc>Gtc,18,409,0,226
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,PKD1,5310,16,2161520,2161520,Silent,SNP,G,A,c.(3646-3648)agC>agT,7,528,0,411
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,TBC1D24,57465,16,2550466,2550466,Silent,SNP,G,A,c.(1498-1500)gcG>gcA,5,282,0,120
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,SLX4,84464,16,3647942,3647942,Missense_Mutation,SNP,G,A,c.(1222-1224)Cgg>Tgg,7,649,0,412
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,C16orf62,57020,16,19589635,19589635,Intron,SNP,A,G,,5,160,0,117
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,AKTIP,64400,16,53529203,53529203,Missense_Mutation,SNP,T,G,c.(283-285)tAt>tCt,6,122,0,100
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,SMYD4,114826,17,1704264,1704264,Nonsense_Mutation,SNP,G,A,c.(424-426)Caa>Taa,4,78,0,92
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,KDM6B,23135,17,7752964,7752964,Missense_Mutation,SNP,G,A,c.(3358-3360)Gcc>Acc,7,306,0,163
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,CNTNAP1,8506,17,40837363,40837363,Missense_Mutation,SNP,C,T,c.(640-642)Cac>Tac,30,387,0,200
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,MGAT5B,146664,17,74868863,74868863,Intron,SNP,G,A,,5,297,1,154
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,SIRT7,51547,17,79875926,79875926,Missense_Mutation,SNP,G,A,c.(82-84)Cgc>Tgc,5,235,1,112
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,LAMA1,284217,18,7012111,7012111,Silent,SNP,G,A,c.(3388-3390)aaC>aaT,8,548,0,225
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,AFG3L2,10939,18,12351348,12351348,Silent,SNP,G,A,c.(1381-1383)ccC>ccT,7,470,0,404
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,AQP4,361,18,24436237,24436237,Missense_Mutation,SNP,C,T,c.(910-912)Gtt>Att,5,185,0,321
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,NFATC1,4772,18,77171157,77171157,Silent,SNP,C,T,c.(880-882)agC>agT,7,435,0,225
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,THEG,51298,19,367084,367084,Silent,SNP,G,A,c.(892-894)aaC>aaT,5,236,0,162
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,LLfos-48D6.1,0,19,2351576,2351576,RNA,SNP,C,T,,9,173,0,119
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,MATK,4145,19,3778273,3778273,Silent,SNP,G,A,c.(1432-1434)Ctg>Ttg,4,32,0,38
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,USHBP1,83878,19,17369169,17369169,Missense_Mutation,SNP,C,A,c.(1072-1074)Gtt>Ttt,6,144,0,173
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,HAPLN4,404037,19,19372310,19372310,Silent,SNP,C,A,c.(64-66)ctG>ctT,9,281,0,253
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,ZNF430,80264,19,21240459,21240459,Missense_Mutation,SNP,A,G,c.(1345-1347)Ata>Gta,7,218,0,228
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,ZNF429,353088,19,21720450,21720450,Missense_Mutation,SNP,C,G,c.(1594-1596)aCt>aGt,5,189,1,195
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,ZNF676,163223,19,22363786,22363786,Missense_Mutation,SNP,T,C,c.(733-735)Ata>Gta,6,339,0,310
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,ZNF726,730087,19,24116610,24116610,Silent,SNP,T,C,c.(1690-1692)ccT>ccC,5,132,0,138
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,FAM187B,148109,19,35715748,35715748,Missense_Mutation,SNP,G,T,c.(1090-1092)Cag>Aag,4,66,0,40
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,RASGRP4,115727,19,38911848,38911848,Intron,SNP,G,A,,4,125,0,110
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,CLPTM1,1209,19,45480632,45480632,Silent,SNP,C,T,c.(499-501)caC>caT,7,318,0,171
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,SCAF1,58506,19,50155887,50155887,Silent,SNP,C,T,c.(2239-2241)agC>agT,4,69,0,35
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,ZNF578,147660,19,53014481,53014481,Missense_Mutation,SNP,A,G,c.(847-849)Agt>Ggt,4,122,0,217
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,ZNF701,55762,19,53086538,53086538,Missense_Mutation,SNP,G,C,c.(1423-1425)cGt>cCt,6,105,0,171
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,PKNOX1,5316,21,44452249,44452249,3'UTR,SNP,T,C,,5,73,0,51
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,ARVCF,421,22,19969579,19969579,Silent,SNP,C,T,c.(244-246)acG>acA,5,258,0,127
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,RANBP1,5902,22,20113020,20113020,Intron,SNP,G,A,,6,311,0,217
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,PPM1F,9647,22,22288440,22288440,Missense_Mutation,SNP,G,A,c.(514-516)Cgg>Tgg,6,243,0,145
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,Unknown,0,X,24329902,24329902,IGR,SNP,G,C,,5,238,0,94
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,CT47B1,643311,X,120009172,120009172,Missense_Mutation,SNP,G,A,c.(352-354)gCg>gTg,6,474,0,244
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,VEPH1,79674,3,157099241,157099242,Intron,INS,-,T,,2,4,,
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,GABBR1,2550,6,29603863,29603864,5'Flank,INS,-,T,,4,26,,
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,NRG1,3084,8,32607160,32607160,Intron,DEL,T,-,,8,11,,
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,CDC123,8872,10,12277184,12277185,Intron,INS,-,A,,9,21,,
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,TRAV18,28665,14,22470650,22470650,RNA,DEL,G,-,,6,12,,
RP-1532_PCProject_0643_T2_v4_Exome_OnPrem,ALOX12B,242,17,7976761,7976762,Intron,INS,-,C,,5,14,,
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,SPEN,23013,1,16260997,16260997,Silent,SNP,G,A,c.(8260-8262)acG>acA,6,225,0,112
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,CSMD2,114784,1,34554646,34554646,Silent,SNP,G,A,c.(334-336)gcC>gcT,8,624,0,322
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ZMYM1,79830,1,35579273,35579273,Silent,SNP,T,C,c.(1840-1842)agT>agC,13,95,0,32
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,AL161915.1,0,1,54570345,54570345,Missense_Mutation,SNP,A,G,c.(205-207)Act>Gct,4,62,0,15
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,SGIP1,84251,1,67160159,67160159,Intron,SNP,G,A,,14,93,0,64
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,UBAP2L,9898,1,154233549,154233549,Silent,SNP,C,T,c.(2758-2760)ctC>ctT,16,336,0,132
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,CASQ1,844,1,160165779,160165779,Silent,SNP,C,T,c.(742-744)agC>agT,25,207,0,98
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,FMO9P,116123,1,166592934,166592934,RNA,SNP,G,A,,23,160,0,95
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,TDRD5,163589,1,179638428,179638428,Nonsense_Mutation,SNP,C,T,c.(2587-2589)Cag>Tag,6,415,0,209
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,IGFN1,91156,1,201180352,201180352,Missense_Mutation,SNP,G,T,c.(6331-6333)Ggg>Tgg,10,870,0,397
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,FCAMR,83953,1,207139190,207139190,Silent,SNP,G,C,c.(181-183)gcC>gcG,10,352,0,167
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,C4BPB,725,1,207268761,207268761,Intron,SNP,C,T,,6,222,0,89
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,TRIM11,81559,1,228594215,228594215,Silent,SNP,G,A,c.(46-48)tgC>tgT,5,230,0,90
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,OR2T33,391195,1,248436727,248436727,Silent,SNP,A,G,c.(388-390)taT>taC,10,1073,0,516
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,NDUFAF7,55471,2,37474765,37474765,Missense_Mutation,SNP,G,A,c.(1102-1104)cGg>cAg,5,313,1,150
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,SFXN5,94097,2,73268736,73268736,Intron,SNP,C,T,,5,102,0,34
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,CD302,9936,2,160654692,160654692,Silent,SNP,C,G,c.(16-18)ctG>ctC,72,396,0,188
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,METTL5,29081,2,170668875,170668875,Intron,SNP,C,T,,6,156,0,89
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,CCDC141,285025,2,179736947,179736947,Missense_Mutation,SNP,G,T,c.(1990-1992)agC>agA,10,372,0,176
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,FAM126B,285172,2,201846441,201846441,Missense_Mutation,SNP,C,T,c.(1144-1146)cGt>cAt,34,170,0,158
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,SUMO1,7341,2,203072629,203072629,Intron,SNP,G,A,,5,120,0,47
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,PARD3B,117583,2,205410807,205410807,Nonsense_Mutation,SNP,C,T,c.(85-87)Cag>Tag,7,718,0,257
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,FAM124B,79843,2,225265134,225265134,Intron,SNP,G,A,,6,336,1,125
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,Unknown,0,2,230889694,230889694,IGR,SNP,C,G,,7,79,0,30
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,HACL1,26061,3,15642654,15642654,Silent,SNP,G,A,c.(127-129)atC>atT,7,262,0,128
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,TBC1D5,9779,3,18058140,18058140,Intron,SNP,G,A,,6,421,0,195
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,CNOT10,25904,3,32806608,32806608,Intron,SNP,T,C,,4,54,0,18
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,LRRC2,79442,3,46621557,46621557,5'UTR,SNP,G,C,,7,647,0,387
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,PLD1,5337,3,171372066,171372066,Intron,SNP,T,C,,4,64,0,28
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,DVL3,1857,3,183873536,183873536,Missense_Mutation,SNP,A,C,c.(112-114)cAg>cCg,11,556,0,192
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,VWA5B2,90113,3,183956435,183956435,Missense_Mutation,SNP,C,T,c.(1975-1977)tCg>tTg,8,493,0,188
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,IGF2BP2,10644,3,185439945,185439945,Intron,SNP,T,C,,7,108,0,77
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,KIAA0226,9711,3,197420975,197420975,Intron,SNP,A,T,,6,71,0,32
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ZNF141,7700,4,352147,352147,Intron,SNP,A,G,,4,38,0,15
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,HAUS3,79441,4,2230166,2230166,3'UTR,SNP,T,A,,4,101,0,39
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,WFS1,7466,4,6279355,6279355,Missense_Mutation,SNP,C,T,c.(172-174)gCg>gTg,9,516,1,188
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,SHISA3,152573,4,42403326,42403326,Missense_Mutation,SNP,C,T,c.(574-576)cCg>cTg,6,438,0,140
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,BDH2,56898,4,104012871,104012871,Intron,SNP,T,C,,6,380,0,160
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,GSTCD,79807,4,106682200,106682200,Intron,SNP,A,G,,4,90,0,17
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,C4orf46,201725,4,159592825,159592825,Silent,SNP,G,A,c.(127-129)agC>agT,5,266,0,87
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,MAST4,375449,5,66459149,66459149,Missense_Mutation,SNP,G,A,c.(4141-4143)cGg>cAg,5,370,0,143
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,NRG2,9542,5,139227791,139227791,Missense_Mutation,SNP,C,T,c.(2263-2265)cGc>cAc,4,115,0,84
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,NRG2,9542,5,139267060,139267060,Missense_Mutation,SNP,G,A,c.(736-738)aCg>aTg,6,287,1,120
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,PCDHA7,56141,5,140215991,140215991,Missense_Mutation,SNP,G,A,c.(2023-2025)Gca>Aca,7,915,0,330
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,NDST1,3340,5,149915419,149915419,Missense_Mutation,SNP,G,A,c.(1408-1410)cGc>cAc,6,700,1,269
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,DPCR1,135656,6,30918274,30918274,Missense_Mutation,SNP,A,G,c.(2032-2034)gAg>gGg,7,629,0,365
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,EHMT2,10919,6,31857044,31857044,Missense_Mutation,SNP,G,A,c.(1075-1077)Cgg>Tgg,5,278,0,114
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,SYNGAP1,8831,6,33391289,33391289,Missense_Mutation,SNP,G,A,c.(103-105)Gtt>Att,26,677,1,324
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,BTBD9,114781,6,38370591,38370591,Intron,SNP,A,C,,7,259,0,126
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,BTBD9,114781,6,38370594,38370594,Intron,SNP,T,A,,6,263,0,126
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,PTK7,5754,6,43106981,43106981,Silent,SNP,C,A,c.(1468-1470)atC>atA,7,406,0,161
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,NT5E,4907,6,86203615,86203615,Missense_Mutation,SNP,C,G,c.(1618-1620)Cca>Gca,28,221,0,144
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,SAMD3,154075,6,130504407,130504407,Intron,SNP,A,G,,5,119,0,49
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,RP11-307P5.1,0,6,148051049,148051049,lincRNA,SNP,T,C,,7,101,0,51
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ESR1,2099,6,152265432,152265432,Silent,SNP,G,A,c.(883-885)ccG>ccA,7,613,0,302
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,MAP3K4,4216,6,161512418,161512418,Missense_Mutation,SNP,C,G,c.(2980-2982)gCa>gGa,4,93,0,52
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,PRR18,285800,6,166721290,166721290,Missense_Mutation,SNP,G,A,c.(340-342)aCg>aTg,4,100,0,57
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,C6orf123,26238,6,168191718,168191718,Silent,SNP,C,T,c.(37-39)ccG>ccA,10,365,0,173
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,GPR146,115330,7,1097935,1097935,Nonsense_Mutation,SNP,C,T,c.(784-786)Cga>Tga,5,327,0,151
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,GPR141,353345,7,37780700,37780700,Silent,SNP,T,C,c.(703-705)ctT>ctC,5,185,0,122
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ZNF117,51351,7,64438803,64438803,Silent,SNP,G,A,c.(1144-1146)atC>atT,6,159,0,117
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,RABGEF1,27342,7,66261850,66261850,3'UTR,SNP,A,T,,7,201,0,76
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,NAT16,375607,7,100815871,100815871,Missense_Mutation,SNP,G,A,c.(598-600)gCg>gTg,6,423,0,212
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,LRRC17,10234,7,102584731,102584731,Missense_Mutation,SNP,G,A,c.(1003-1005)Gta>Ata,5,112,0,63
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,IRF5,3663,7,128583110,128583110,Intron,SNP,C,T,,3,26,0,23
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,RP11-1220K2.2,0,7,141919803,141919803,Missense_Mutation,SNP,C,T,c.(5491-5493)cCa>cTa,11,190,0,119
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,CCAR2,57805,8,22476376,22476376,Missense_Mutation,SNP,C,T,c.(2368-2370)aCg>aTg,6,327,0,102
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,EGR3,1960,8,22548115,22548115,Silent,SNP,G,A,c.(1033-1035)agC>agT,5,365,0,163
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ADRA1A,148,8,26606085,26606085,Missense_Mutation,SNP,G,A,c.(1063-1065)aCg>aTg,4,92,0,25
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,NRG1,3084,8,31498155,31498155,Missense_Mutation,SNP,G,A,c.(655-657)Gcg>Acg,17,457,0,142
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,MOS,4342,8,57026383,57026383,Silent,SNP,G,A,c.(157-159)tgC>tgT,6,513,1,166
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,TMEM70,54968,8,74891382,74891382,Intron,SNP,G,C,,5,115,0,38
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,PLEC,5339,8,145006204,145006204,Intron,SNP,C,T,,8,713,0,310
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,SMARCA2,6595,9,2186199,2186199,Missense_Mutation,SNP,A,G,c.(4564-4566)gAg>gGg,5,228,0,108
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,UNC13B,10497,9,35366966,35366966,Missense_Mutation,SNP,C,T,c.(1189-1191)tCt>tTt,8,206,0,132
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,TRPM6,140803,9,77442699,77442699,Missense_Mutation,SNP,T,C,c.(835-837)cAc>cGc,10,545,0,311
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,C9orf169,0,9,140120278,140120278,Missense_Mutation,SNP,G,A,c.(205-207)Gcc>Acc,62,361,0,206
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,C10orf131,100127889,10,97673178,97673178,5'UTR,SNP,C,T,,5,164,0,73
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,POLL,27343,10,103339431,103339431,Silent,SNP,G,A,c.(1507-1509)Ctg>Ttg,25,574,0,196
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,WBP1L,54838,10,104573013,104573013,Silent,SNP,G,A,c.(952-954)ccG>ccA,6,425,0,172
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,METTL10,399818,10,126450989,126450989,Missense_Mutation,SNP,G,A,c.(754-756)gCa>gTa,6,276,0,119
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,CTBP2,1488,10,126714968,126714968,Intron,SNP,G,A,,5,164,0,61
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,TCERG1L,256536,10,133109797,133109797,Silent,SNP,C,A,c.(100-102)ccG>ccT,4,62,0,30
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,OR51G1,79324,11,4945161,4945161,Missense_Mutation,SNP,C,T,c.(409-411)Gtc>Atc,50,429,0,190
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,EIF3M,10480,11,32615480,32615480,Missense_Mutation,SNP,G,A,c.(601-603)cGa>cAa,4,36,0,29
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,LDLRAD3,143458,11,36123539,36123539,Intron,SNP,C,A,,4,21,0,11
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,MAPK8IP1,9479,11,45924425,45924425,Silent,SNP,G,A,c.(1105-1107)tcG>tcA,7,519,0,226
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,TNKS1BP1,85456,11,57080941,57080941,Silent,SNP,G,A,c.(1219-1221)ggC>ggT,5,99,0,52
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,CLP1,10978,11,57428889,57428889,Missense_Mutation,SNP,G,A,c.(1066-1068)cGg>cAg,4,59,0,36
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,SYT7,9066,11,61290626,61290626,Missense_Mutation,SNP,G,A,c.(1027-1029)aCg>aTg,6,515,0,234
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,AHNAK,79026,11,62288974,62288974,Silent,SNP,T,C,c.(12913-12915)gtA>gtG,5,255,1,155
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,AHNAK,79026,11,62290863,62290863,Missense_Mutation,SNP,A,T,c.(11026-11028)Ttt>Att,4,61,0,48
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ATG2A,23130,11,64675075,64675075,Missense_Mutation,SNP,C,G,c.(2569-2571)Gcc>Ccc,17,146,0,72
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,LRFN4,78999,11,66626461,66626461,Missense_Mutation,SNP,G,A,c.(1246-1248)Gcc>Acc,4,55,0,19
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ANKRD13D,338692,11,67059611,67059611,Missense_Mutation,SNP,G,A,c.(430-432)Gtc>Atc,5,239,1,86
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ANKRD13D,338692,11,67068770,67068770,Missense_Mutation,SNP,G,A,c.(988-990)Gtg>Atg,5,165,0,87
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,IGHMBP2,3508,11,68702857,68702857,Missense_Mutation,SNP,G,A,c.(1723-1725)Gtg>Atg,6,830,0,391
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,MYEOV,26579,11,69063527,69063527,Missense_Mutation,SNP,C,T,c.(610-612)Cgc>Tgc,7,606,0,183
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,AP001024.2,0,11,107643200,107643200,Silent,SNP,G,A,c.(70-72)tcG>tcA,6,308,0,100
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,PHLDB1,23187,11,118516203,118516203,Missense_Mutation,SNP,C,G,c.(3250-3252)cCc>cGc,9,143,0,70
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,OR10G4,390264,11,123886316,123886316,Missense_Mutation,SNP,T,A,c.(34-36)cTc>cAc,10,79,1,71
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,TEAD4,7004,12,3131119,3131119,Missense_Mutation,SNP,A,G,c.(445-447)aAg>aGg,5,356,1,150
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,KCNA5,3741,12,5153492,5153492,Missense_Mutation,SNP,C,G,c.(178-180)gCg>gGg,5,228,0,126
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,KLRC3,3823,12,10565170,10565170,3'UTR,SNP,C,G,,8,364,1,169
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,SLC48A1,55652,12,48174514,48174514,3'UTR,SNP,A,T,,4,30,0,15
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,SLC48A1,55652,12,48174625,48174625,3'UTR,SNP,T,C,,5,264,0,92
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,FMNL3,91010,12,50047078,50047078,Missense_Mutation,SNP,T,G,c.(1252-1254)gaA>gaC,13,323,0,156
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,FMNL3,91010,12,50047090,50047090,Silent,SNP,G,A,c.(1240-1242)gaC>gaT,9,290,1,137
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,GRASP,160622,12,52407543,52407543,Missense_Mutation,SNP,A,G,c.(526-528)aAg>aGg,5,276,0,147
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,KRT1,3848,12,53069133,53069133,Silent,SNP,G,A,c.(1777-1779)ggC>ggT,143,710,0,319
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,NAV3,89795,12,78537193,78537193,Intron,SNP,T,C,,4,129,0,47
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,PTPRQ,374462,12,80855699,80855699,Silent,SNP,G,A,c.(472-474)gcG>gcA,5,328,0,171
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,DNAH10,196385,12,124419879,124419879,Intron,SNP,C,A,,14,56,0,26
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,GALNT9,50614,12,132688080,132688080,Silent,SNP,G,A,c.(1231-1233)caC>caT,7,406,0,186
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,FREM2,341640,13,39447013,39447013,Nonsense_Mutation,SNP,C,G,c.(8116-8118)taC>taG,11,369,0,283
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ABCC4,10257,13,95813472,95813472,Missense_Mutation,SNP,G,A,c.(2425-2427)cCg>cTg,4,101,0,41
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,TTC6,319089,14,38261511,38261511,Intron,SNP,G,T,,6,183,0,75
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,CLEC14A,161198,14,38723936,38723936,Missense_Mutation,SNP,G,A,c.(1291-1293)tCc>tTc,48,260,1,143
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,KIAA0586,9786,14,58908056,58908056,Intron,SNP,C,T,,5,148,0,89
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,SPTB,6710,14,65237622,65237622,Missense_Mutation,SNP,C,T,c.(5779-5781)Gag>Aag,127,734,0,356
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,RDH12,145226,14,68195994,68195994,Missense_Mutation,SNP,C,T,c.(745-747)Cgg>Tgg,8,1247,0,489
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ZFYVE26,23503,14,68268819,68268819,Missense_Mutation,SNP,G,A,c.(1615-1617)gCg>gTg,52,388,0,249
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,DYNC1H1,1778,14,102499764,102499764,Silent,SNP,C,T,c.(10354-10356)gcC>gcT,26,575,0,280
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,JAG2,3714,14,105609242,105609242,Silent,SNP,G,A,c.(3505-3507)gcC>gcT,6,506,0,243
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,MGA,23269,15,42035332,42035332,Nonsense_Mutation,SNP,C,G,c.(5173-5175)tCa>tGa,16,69,0,80
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,CCNDBP1,23582,15,43486274,43486274,Intron,SNP,T,A,,5,102,0,20
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,C16orf89,146556,16,5094778,5094778,Silent,SNP,A,G,c.(1015-1017)Ttg>Ctg,5,165,0,79
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,PARN,5073,16,14726255,14726255,5'Flank,SNP,G,C,,6,234,0,115
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ITPRIPL2,162073,16,19125988,19125988,Missense_Mutation,SNP,G,A,c.(205-207)Gct>Act,4,100,0,50
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ZNF764,92595,16,30566670,30566670,Missense_Mutation,SNP,C,G,c.(1072-1074)Gtg>Ctg,43,246,0,157
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,APRT,353,16,88873739,88873739,IGR,SNP,G,A,,7,546,0,263
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,PRPF8,10594,17,1562006,1562006,Missense_Mutation,SNP,C,A,c.(5188-5190)atG>atT,5,357,0,236
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ANKFY1,51479,17,4088213,4088213,Silent,SNP,G,T,c.(1597-1599)tcC>tcA,37,665,1,279
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,SREBF1,6720,17,17716964,17716964,Silent,SNP,G,A,c.(3019-3021)tcC>tcT,7,1136,0,441
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,COPRS,55352,17,30179268,30179268,Missense_Mutation,SNP,G,A,c.(445-447)Cca>Tca,4,115,0,110
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,KRTAP4-6,81871,17,39296254,39296254,Silent,SNP,C,G,c.(484-486)ccG>ccC,10,1241,1,388
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,BRCA1,672,17,41197040,41197040,3'UTR,SNP,C,T,,6,67,0,43
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,TOB1,10140,17,48940628,48940628,Missense_Mutation,SNP,G,A,c.(751-753)Ccg>Tcg,7,358,0,136
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,EPX,8288,17,56276416,56276416,Missense_Mutation,SNP,C,T,c.(1135-1137)aCg>aTg,26,707,0,327
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,TMEM104,54868,17,72773787,72773787,Intron,SNP,G,A,,5,276,0,120
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,9-Sep,10801,17,75441623,75441623,Intron,SNP,C,T,,3,26,0,9
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,DSC3,1825,18,28576886,28576886,Silent,SNP,G,T,c.(2362-2364)acC>acA,64,443,1,301
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ST8SIA5,29906,18,44336481,44336481,5'UTR,SNP,C,T,,47,209,0,114
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,MBP,4155,18,74696845,74696845,Silent,SNP,G,A,c.(550-552)gcC>gcT,36,198,0,117
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,HCN2,610,19,603979,603979,Intron,SNP,C,G,,17,54,0,45
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ELANE,1991,19,855698,855698,Silent,SNP,C,T,c.(499-501)agC>agT,6,808,0,370
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ZNF57,126295,19,2917690,2917690,Silent,SNP,G,A,c.(1069-1071)acG>acA,5,171,0,107
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,RPL36,25873,19,5684089,5684089,Intron,SNP,C,T,,4,67,0,27
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,SNAPC2,6618,19,7987610,7987610,Silent,SNP,C,T,c.(964-966)ccC>ccT,10,167,0,78
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ZNF560,147741,19,9577515,9577515,Missense_Mutation,SNP,A,G,c.(2107-2109)tTa>tCa,4,177,0,122
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,HAPLN4,404037,19,19372329,19372329,Missense_Mutation,SNP,G,A,c.(46-48)gCg>gTg,8,348,0,195
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ZNF431,170959,19,21366804,21366804,Silent,SNP,T,C,c.(1696-1698)acT>acC,3,26,0,14
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ZNF257,113835,19,22271831,22271831,Missense_Mutation,SNP,G,A,c.(1279-1281)Gga>Aga,5,273,1,174
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ZNF99,7652,19,22939769,22939769,IGR,SNP,C,T,,5,148,0,73
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ZNF726,730087,19,24116263,24116263,Missense_Mutation,SNP,A,G,c.(1345-1347)Aga>Gga,5,255,1,185
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,AC092295.7,0,19,37068130,37068130,RNA,SNP,A,G,,6,235,0,91
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ZNF233,353355,19,44778739,44778739,Silent,SNP,T,C,c.(1924-1926)caT>caC,4,148,0,89
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,PPP1R13L,10848,19,45889384,45889384,Missense_Mutation,SNP,G,A,c.(1870-1872)Cgc>Tgc,4,97,0,54
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ZNF701,55762,19,53075587,53075587,Silent,SNP,T,C,c.(91-93)ggT>ggC,5,208,0,64
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ZNF813,126017,19,53995312,53995312,Missense_Mutation,SNP,T,G,c.(1825-1827)tTt>tGt,4,143,1,102
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,GP6,51206,19,55525516,55525516,3'UTR,SNP,A,G,,6,140,0,90
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,CDH4,1002,20,60503378,60503378,Silent,SNP,G,A,c.(1900-1902)acG>acA,140,857,0,369
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,SS18L1,26039,20,60740491,60740491,Silent,SNP,C,T,c.(835-837)taC>taT,5,270,0,120
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,LAMA5,3911,20,60902996,60902996,Missense_Mutation,SNP,G,A,c.(4723-4725)Cgc>Tgc,6,368,0,148
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,RBBP8NL,140893,20,60991882,60991882,Missense_Mutation,SNP,C,T,c.(247-249)Gcc>Acc,67,451,0,230
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,IFNGR2,3460,21,34793789,34793789,Missense_Mutation,SNP,C,A,c.(208-210)aCc>aAc,5,400,0,257
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,B3GALT5,10317,21,41033066,41033066,Missense_Mutation,SNP,C,A,c.(580-582)Cca>Aca,4,88,0,48
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,KRTAP10-11,386678,21,46066487,46066487,Missense_Mutation,SNP,G,A,c.(112-114)Gcc>Acc,69,340,0,196
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,PCNT,5116,21,47832914,47832914,Intron,SNP,G,A,,15,285,0,136
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,TTLL12,23170,22,43576009,43576009,Intron,SNP,G,A,,5,119,0,41
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,RIBC2,26150,22,45821982,45821982,Missense_Mutation,SNP,G,A,c.(610-612)cGc>cAc,7,929,0,366
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,CELSR1,9620,22,46805773,46805773,Silent,SNP,G,A,c.(4936-4938)tgC>tgT,5,248,0,96
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,ZRSR2,8233,X,15819477,15819477,Intron,SNP,G,A,,4,77,0,19
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,THOC2,57187,X,122769941,122769941,Silent,SNP,C,T,c.(2005-2007)aaG>aaA,5,109,0,47
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,DEPDC1,55635,1,68944945,68944947,In_Frame_Del,DEL,TCA,-,c.(1990-1995)gatgag>gag,13,89,,
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,SOX30,11063,5,157078850,157078852,In_Frame_Del,DEL,CAA,-,c.(235-237)ttgdel,68,324,,
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,MGA,23269,15,41988675,41988676,Frame_Shift_Ins,INS,-,A,c.(1468-1470)atgfs,20,103,,
RP-1532_PCProject_0653_T2_v4_Exome_OnPrem,HMG20B,10362,19,3573249,3573250,Intron,INS,-,GCCCCGG,,15,207,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,B4GALT3,8703,1,161143409,161143409,Silent,SNP,G,A,c.(787-789)gaC>gaT,19,63,1,108
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,MBD5,55777,2,149227085,149227085,Missense_Mutation,SNP,T,G,c.(1573-1575)Tta>Gta,9,59,2,197
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,SESTD1,91404,2,179986636,179986636,Missense_Mutation,SNP,G,C,c.(1303-1305)Cgt>Ggt,5,27,0,63
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,SATB1,6304,3,18436215,18436215,Silent,SNP,T,C,c.(943-945)caA>caG,9,31,0,120
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,TENM3,55714,4,183370209,183370209,Intron,SNP,G,C,,37,135,0,218
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,CCT5,22948,5,10262655,10262655,Silent,SNP,C,T,c.(1240-1242)cgC>cgT,15,118,0,225
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,ZNF311,282890,6,28962926,28962926,Missense_Mutation,SNP,T,C,c.(1852-1854)aAa>aGa,7,23,0,73
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,KCNK5,8645,6,39196825,39196825,Silent,SNP,C,A,c.(61-63)gcG>gcT,21,96,0,166
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,EYS,346007,6,65532655,65532655,Missense_Mutation,SNP,A,G,c.(3052-3054)gTt>gCt,8,29,0,98
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,NRG1,3084,8,32505766,32505766,Intron,SNP,G,A,,20,80,0,253
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,CD72,971,9,35616639,35616639,Missense_Mutation,SNP,A,C,c.(310-312)Tgc>Ggc,27,185,1,224
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,GRIN3A,116443,9,104499939,104499939,Missense_Mutation,SNP,G,A,c.(322-324)cCg>cTg,7,19,0,169
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,PTGR1,22949,9,114348291,114348291,Missense_Mutation,SNP,C,T,c.(364-366)Gtt>Att,5,23,0,63
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,HABP2,3026,10,115334109,115334109,Silent,SNP,T,C,c.(166-168)agT>agC,8,47,0,63
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,C2CD5,9847,12,22659660,22659660,Missense_Mutation,SNP,G,A,c.(1132-1134)Cgt>Tgt,13,73,0,116
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,PPFIA2,8499,12,81777994,81777994,Silent,SNP,G,A,c.(790-792)acC>acT,8,12,0,84
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,CHD3,1107,17,7788158,7788158,Nonsense_Mutation,SNP,G,T,c.(34-36)Gag>Tag,38,104,0,74
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,MIEF2,125170,17,18166732,18166732,Intron,SNP,G,A,,5,26,0,86
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,PLCD3,113026,17,43192555,43192555,Silent,SNP,G,A,c.(1615-1617)cgC>cgT,7,39,0,65
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,EHD2,30846,19,48220194,48220194,Missense_Mutation,SNP,G,A,c.(325-327)Gtg>Atg,26,128,0,159
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,MED12,9968,X,70349258,70349258,Missense_Mutation,SNP,C,T,c.(3670-3672)Ctc>Ttc,15,61,1,104
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,OGT,8473,X,70757905,70757905,Missense_Mutation,SNP,G,A,c.(445-447)Gct>Act,4,19,0,40
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,ARHGAP30,257106,1,161022036,161022036,Intron,DEL,G,-,,7,26,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,OPTC,26254,1,203469109,203469111,Intron,DEL,CAT,-,,4,4,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,BRE,9577,2,28550228,28550228,Frame_Shift_Del,DEL,G,-,c.(1174-1176)cagfs,15,86,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,CAMKMT,79823,2,44934640,44934642,Intron,DEL,ATT,-,,3,19,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,NEB,4703,2,152490167,152490168,Intron,INS,-,T,,3,6,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,GPM6A,2823,4,176561801,176561802,Intron,INS,-,T,,5,3,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,CCT5,22948,5,10250411,10250411,5'UTR,DEL,G,-,,19,83,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,LIFR,3977,5,38489241,38489241,Frame_Shift_Del,DEL,T,-,c.(2272-2274)ggafs,8,53,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,PRRC2A,7916,6,31605191,31605192,Intron,INS,-,T,,3,5,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,CUL7,9820,6,43017613,43017614,Intron,INS,-,C,,3,15,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,CDCA2,157313,8,25343276,25343277,Splice_Site,INS,-,T,c.(1366-1371)gaaaac>gaTaaac,5,26,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,OR13C5,138799,9,107361084,107361085,Frame_Shift_Ins,INS,-,T,c.(610-612)acafs,3,20,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,AMBRA1,55626,11,46563616,46563617,Frame_Shift_Ins,INS,-,A,c.(1948-1953)tttaacfs,7,45,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,CKAP5,9793,11,46791521,46791521,Frame_Shift_Del,DEL,G,-,c.(3313-3315)cctfs,7,47,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,SMTNL1,219537,11,57310476,57310476,Frame_Shift_Del,DEL,G,-,c.(361-363)gaafs,3,18,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,SCN4B,6330,11,118004737,118004738,3'UTR,INS,-,A,,3,20,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,ERC1,23085,12,1353874,1353877,Intron,DEL,TTAG,-,,2,2,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,BIN2,51411,12,51685624,51685625,Frame_Shift_Ins,INS,-,A,c.(1264-1266)gccfs,3,18,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,CDH24,64403,14,23519192,23519193,Intron,INS,-,A,,5,11,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,DUOX2,50506,15,45389578,45389579,Frame_Shift_Ins,INS,-,TGGAT,c.(3703-3705)catfs,4,111,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,MYH11,4629,16,15797691,15797692,IGR,INS,-,T,,2,35,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,NQO1,1728,16,69752455,69752457,Intron,DEL,AAG,-,,3,10,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,PITPNM3,83394,17,6387150,6387155,Intron,DEL,TGTGCG,-,,5,36,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,C1QTNF1,114897,17,77039595,77039596,Intron,DEL,TA,-,,2,1,,
RP-1532_PCProject_0672_T1_v6_Exome_OnPrem,SCUBE1,80274,22,43651437,43651440,Intron,DEL,TGTG,-,,4,20,,
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,MTOR,2475,1,11190718,11190718,Silent,SNP,G,A,c.(5479-5481)aaC>aaT,7,825,0,330
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CEP85,64793,1,26601547,26601547,Silent,SNP,C,T,c.(1885-1887)cgC>cgT,5,282,0,109
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ARID1A,8289,1,27106261,27106261,Missense_Mutation,SNP,G,A,c.(5872-5874)Gaa>Aaa,5,228,0,122
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,TRNAU1AP,54952,1,28879615,28879615,5'UTR,SNP,G,T,,9,45,0,42
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,BAI2,576,1,32203057,32203057,Silent,SNP,G,A,c.(2950-2952)ctC>ctT,5,278,0,145
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SPOCD1,90853,1,32259366,32259366,Missense_Mutation,SNP,G,T,c.(2515-2517)cCc>cAc,30,143,0,76
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PTCH2,8643,1,45292967,45292967,Missense_Mutation,SNP,A,C,c.(2386-2388)Ttt>Gtt,43,401,0,295
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ABCA4,24,1,94485278,94485278,Missense_Mutation,SNP,C,T,c.(5056-5058)Gtg>Atg,6,488,0,211
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,EXTL2,2135,1,101343224,101343224,Nonsense_Mutation,SNP,T,A,c.(241-243)Aaa>Taa,15,99,0,71
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,AKNAD1,254268,1,109394637,109394637,Missense_Mutation,SNP,T,G,c.(649-651)aAa>aCa,14,96,0,70
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,AMPD2,271,1,110173724,110173724,Nonsense_Mutation,SNP,G,T,c.(2590-2592)Gag>Tag,38,371,0,217
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PDE4DIP,9659,1,144922224,144922224,Missense_Mutation,SNP,C,T,c.(943-945)cGa>cAa,6,532,0,270
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,AIM2,9447,1,159033454,159033454,Missense_Mutation,SNP,T,C,c.(826-828)aAg>aGg,8,68,0,38
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SELE,6401,1,169699589,169699589,Silent,SNP,A,T,c.(697-699)ccT>ccA,7,74,0,44
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ASPM,259266,1,197073731,197073731,Missense_Mutation,SNP,T,A,c.(4648-4650)agA>agT,22,412,0,220
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CRB1,23418,1,197313538,197313538,Missense_Mutation,SNP,A,T,c.(778-780)gaA>gaT,26,145,0,94
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CHIT1,1118,1,203185521,203185521,3'UTR,SNP,A,G,,30,234,0,176
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,DTL,51514,1,212273988,212273988,Missense_Mutation,SNP,G,T,c.(1654-1656)aaG>aaT,6,122,0,90
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CDC42BPA,8476,1,227216756,227216756,Missense_Mutation,SNP,C,A,c.(3928-3930)cGc>cTc,5,102,0,64
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,OBSCN,84033,1,228505398,228505398,Missense_Mutation,SNP,G,C,c.(13795-13797)Gtg>Ctg,15,196,0,168
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,TRIM67,440730,1,231351134,231351134,Missense_Mutation,SNP,C,A,c.(2299-2301)aCa>aAa,6,127,0,60
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,MYT1L,23040,2,1812860,1812860,Missense_Mutation,SNP,G,A,c.(3160-3162)Cgg>Tgg,5,300,1,152
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,TDRD15,100129278,2,21363083,21363083,Missense_Mutation,SNP,A,G,c.(2743-2745)aAc>aGc,13,52,1,46
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,LCLAT1,253558,2,30828933,30828933,Intron,SNP,T,C,,5,166,0,68
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,NRXN1,9378,2,50149283,50149283,Silent,SNP,G,A,c.(4231-4233)gcC>gcT,5,240,0,114
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,GKN2,200504,2,69173473,69173473,Missense_Mutation,SNP,A,C,c.(433-435)caT>caG,7,82,0,43
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ZNF638,27332,2,71653775,71653775,Silent,SNP,T,G,c.(4774-4776)gtT>gtG,15,144,0,67
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,HTRA2,27429,2,74757302,74757302,Missense_Mutation,SNP,C,A,c.(169-171)Ctc>Atc,17,207,0,101
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,KYNU,8942,2,143742760,143742760,Intron,SNP,G,A,,6,291,0,204
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,DCAF17,80067,2,172339713,172339713,3'UTR,SNP,C,T,,5,157,0,105
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,WNT6,7475,2,219738383,219738383,Missense_Mutation,SNP,C,T,c.(913-915)aCg>aTg,83,336,0,368
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,DNER,92737,2,230456334,230456334,Missense_Mutation,SNP,C,T,c.(547-549)Ggg>Agg,24,144,0,82
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SP140,11262,2,231150545,231150545,Missense_Mutation,SNP,G,A,c.(1642-1644)aGg>aAg,16,103,0,86
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ALPPL2,251,2,233272486,233272486,Intron,SNP,G,C,,28,155,0,149
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CNTN6,27255,3,1134491,1134491,5'UTR,SNP,T,C,,15,101,0,49
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,EFHB,151651,3,19938250,19938250,Missense_Mutation,SNP,G,A,c.(1654-1656)Cgg>Tgg,5,208,1,148
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,UBE2E2,7325,3,23631285,23631285,Missense_Mutation,SNP,G,A,c.(568-570)cGg>cAg,41,252,0,135
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CTNNB1,1499,3,41266137,41266137,Missense_Mutation,SNP,C,T,c.(133-135)tCt>tTt,43,365,0,243
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,C3orf14,57415,3,62307618,62307618,Missense_Mutation,SNP,T,G,c.(67-69)Tta>Gta,6,68,0,49
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,MORC1,27136,3,108829619,108829619,Missense_Mutation,SNP,G,A,c.(130-132)gCt>gTt,7,80,0,49
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CCDC80,151887,3,112358233,112358233,Missense_Mutation,SNP,C,T,c.(520-522)Gat>Aat,6,278,0,137
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CASR,846,3,121980969,121980969,Missense_Mutation,SNP,G,A,c.(1087-1089)Ggt>Agt,6,214,1,124
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,MYLK,4638,3,123401103,123401103,Missense_Mutation,SNP,T,A,c.(3619-3621)aAg>aTg,28,266,0,116
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PODXL2,50512,3,127381155,127381155,Splice_Site,SNP,G,T,c.e4+1,26,141,0,49
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,COL6A6,131873,3,130293306,130293306,Missense_Mutation,SNP,G,A,c.(3484-3486)Gat>Aat,5,206,0,88
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CPB1,1360,3,148577709,148577709,Missense_Mutation,SNP,T,A,c.(1174-1176)Tcc>Acc,17,292,0,93
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,FAM193A,8603,4,2709988,2709988,Silent,SNP,A,G,c.(3613-3615)ggA>ggG,4,31,0,17
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,KIAA1211,57482,4,57180516,57180516,Missense_Mutation,SNP,C,T,c.(847-849)gCg>gTg,13,60,0,70
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PAICS,10606,4,57314657,57314657,Missense_Mutation,SNP,T,C,c.(466-468)cTt>cCt,3,21,0,21
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ANTXR2,118429,4,80898795,80898795,Nonsense_Mutation,SNP,G,A,c.(1408-1410)Cga>Tga,5,362,0,138
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SPP1,6696,4,88903908,88903908,Missense_Mutation,SNP,G,T,c.(805-807)Gtc>Ttc,5,303,0,157
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PKD2,5311,4,88959475,88959475,Nonsense_Mutation,SNP,C,T,c.(916-918)Cga>Tga,5,264,0,153
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,TSPAN5,10098,4,99408006,99408006,Silent,SNP,G,A,c.(160-162)acC>acT,4,98,0,66
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,INTS12,57117,4,106604416,106604416,Missense_Mutation,SNP,C,G,c.(862-864)aGt>aCt,17,78,0,49
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,MYOZ2,51778,4,120107248,120107248,Missense_Mutation,SNP,C,T,c.(688-690)Cgg>Tgg,29,149,0,116
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,FREM3,166752,4,144532570,144532570,Missense_Mutation,SNP,A,T,c.(5890-5892)Tgc>Agc,6,332,0,178
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SH3D19,152503,4,152054285,152054285,Missense_Mutation,SNP,C,T,c.(1819-1821)Gaa>Aaa,39,257,0,113
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,TRAPPC11,60684,4,184629563,184629563,Nonsense_Mutation,SNP,C,T,c.(3193-3195)Cga>Tga,5,57,0,46
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,FAT1,2195,4,187524835,187524835,Silent,SNP,G,A,c.(10843-10845)agC>agT,4,165,0,158
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PRDM9,56979,5,23524506,23524506,Missense_Mutation,SNP,G,C,c.(1012-1014)caG>caC,65,331,0,329
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ADAMTS12,81792,5,33891924,33891924,Missense_Mutation,SNP,G,A,c.(37-39)tCc>tTc,6,303,0,124
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,RNF180,285671,5,63621221,63621221,Missense_Mutation,SNP,G,C,c.(1435-1437)aGa>aCa,4,113,0,62
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ANKRD31,256006,5,74441986,74441986,Missense_Mutation,SNP,C,A,c.(3250-3252)Gtt>Ttt,7,22,0,39
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,GPR98,84059,5,90149966,90149966,Missense_Mutation,SNP,A,G,c.(17542-17544)Aga>Gga,6,63,0,55
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,DSP,1832,6,7569497,7569497,Missense_Mutation,SNP,G,C,c.(1498-1500)Ggc>Cgc,6,396,0,141
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PPP1R10,5514,6,30569897,30569897,Silent,SNP,A,C,c.(2527-2529)ggT>ggG,13,35,0,41
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SPDEF,25803,6,34512002,34512002,Silent,SNP,G,T,c.(229-231)gcC>gcA,29,158,0,123
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,GUCA1A,2978,6,42146621,42146621,Missense_Mutation,SNP,G,A,c.(433-435)Gtc>Atc,31,195,0,154
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PRPH2,5961,6,42689649,42689649,Missense_Mutation,SNP,G,A,c.(424-426)Cgg>Tgg,43,286,0,188
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PPP2R5D,5528,6,42975694,42975694,Missense_Mutation,SNP,G,A,c.(748-750)Gag>Aag,18,130,0,68
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,XPO5,57510,6,43493661,43493661,Splice_Site,SNP,T,G,c.e28-2,12,82,0,47
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,BEND6,221336,6,56857227,56857227,Missense_Mutation,SNP,G,C,c.(172-174)Gat>Cat,25,160,0,106
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,BEND6,221336,6,56857228,56857228,Missense_Mutation,SNP,A,T,c.(172-174)gAt>gTt,27,162,0,107
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SYNCRIP,10492,6,86329045,86329045,Missense_Mutation,SNP,C,T,c.(1099-1101)Gtg>Atg,16,146,0,107
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,BRAT1,221927,7,2578892,2578892,Missense_Mutation,SNP,C,T,c.(1690-1692)aGt>aAt,13,132,0,74
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,TRGV5,6978,7,38389163,38389163,RNA,SNP,G,C,,32,332,0,195
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ZNF479,90827,7,57200015,57200015,Missense_Mutation,SNP,C,A,c.(16-18)gGa>gTa,43,273,0,214
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ABHD11,83451,7,73151579,73151579,Missense_Mutation,SNP,G,A,c.(604-606)gCg>gTg,58,380,0,274
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,GRM3,2913,7,86415779,86415779,Missense_Mutation,SNP,A,C,c.(670-672)gAg>gCg,37,186,0,103
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ACTL6B,51412,7,100244886,100244886,Missense_Mutation,SNP,C,T,c.(781-783)Gcc>Acc,10,114,0,114
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,FOXP2,93986,7,114330789,114330789,IGR,SNP,G,A,,10,111,1,105
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CSMD1,64478,8,3224690,3224690,Silent,SNP,G,A,c.(2980-2982)tcC>tcT,5,320,0,228
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,LINC00293,497634,8,47752741,47752741,lincRNA,SNP,G,T,,16,121,0,75
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SULF1,23213,8,70536309,70536309,Missense_Mutation,SNP,G,A,c.(1726-1728)cGt>cAt,10,100,0,31
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PSKH2,85481,8,87076690,87076690,Missense_Mutation,SNP,T,A,c.(355-357)tAc>tTc,7,338,0,190
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ZFPM2,23414,8,106646466,106646466,Intron,SNP,T,A,,12,82,0,44
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,KIFC2,90990,8,145693968,145693968,Missense_Mutation,SNP,A,C,c.(937-939)cAg>cCg,6,75,0,78
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ZNF16,7564,8,146157698,146157698,Missense_Mutation,SNP,C,G,c.(475-477)Gac>Cac,24,161,0,119
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ANKRD18B,441459,9,33567163,33567163,Missense_Mutation,SNP,A,T,c.(2617-2619)aaA>aaT,5,59,1,61
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,FRMPD1,22844,9,37692678,37692678,Missense_Mutation,SNP,G,C,c.(40-42)Gca>Cca,21,207,0,136
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PCSK5,5125,9,78938119,78938119,Silent,SNP,G,A,c.(4171-4173)gaG>gaA,5,234,0,161
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SPATA31C1,441452,9,90535450,90535450,RNA,SNP,C,T,,6,528,0,268
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SLC31A1,1317,9,116028532,116028532,IGR,SNP,A,G,,4,64,0,25
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PRPF4,9128,9,116038922,116038922,Missense_Mutation,SNP,G,A,c.(124-126)cGt>cAt,29,145,0,69
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,OR1Q1,158131,9,125377063,125377063,Missense_Mutation,SNP,G,T,c.(46-48)gGc>gTc,4,35,0,29
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,RALGDS,5900,9,136004684,136004684,Missense_Mutation,SNP,C,G,c.(22-24)Gtt>Ctt,10,102,0,49
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PNPLA7,375775,9,140438203,140438203,Missense_Mutation,SNP,C,G,c.(262-264)aGg>aCg,9,119,0,91
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,C10orf126,283080,10,29137159,29137159,Missense_Mutation,SNP,A,C,c.(37-39)cAg>cCg,25,130,0,108
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,Unknown,0,10,44285556,44285556,IGR,SNP,G,A,,15,79,0,54
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PARG,8505,10,51051668,51051668,Missense_Mutation,SNP,C,G,c.(907-909)caG>caC,14,121,0,96
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,TACR2,6865,10,71175818,71175818,Missense_Mutation,SNP,C,T,c.(262-264)Gcc>Acc,32,299,0,182
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CCSER2,54462,10,86273330,86273330,3'UTR,SNP,T,G,,7,214,0,129
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,IFITM2,10581,11,308419,308419,Missense_Mutation,SNP,C,T,c.(226-228)gCa>gTa,9,186,0,102
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,IFITM2,10581,11,308433,308433,Missense_Mutation,SNP,G,A,c.(241-243)Gtg>Atg,6,127,0,79
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,RRAS2,22800,11,14317326,14317326,Missense_Mutation,SNP,C,T,c.(184-186)Gcc>Acc,4,115,0,74
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,OR5M1,390168,11,56380950,56380950,Missense_Mutation,SNP,G,T,c.(28-30)aCa>aAa,12,98,0,85
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PLAC1L,0,11,59807949,59807949,Nonsense_Mutation,SNP,T,A,c.(16-18)tTg>tAg,15,158,0,92
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,DNAJC4,3338,11,64001637,64001637,Missense_Mutation,SNP,C,T,c.(706-708)cCc>cTc,9,94,0,94
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SIPA1,6494,11,65409026,65409026,Missense_Mutation,SNP,G,A,c.(634-636)Gca>Aca,5,113,0,83
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,DNAJB13,374407,11,73675983,73675983,Missense_Mutation,SNP,G,A,c.(394-396)gGg>gAg,4,105,0,40
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,TAF1D,79101,11,93466697,93466697,IGR,SNP,T,A,,10,96,0,54
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SESN3,143686,11,94922968,94922968,Nonsense_Mutation,SNP,C,T,c.(499-501)tGg>tAg,6,77,0,32
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,NPAT,4863,11,108032222,108032222,Missense_Mutation,SNP,A,C,c.(3589-3591)agT>agG,38,291,0,230
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PHLDB1,23187,11,118499062,118499062,Missense_Mutation,SNP,C,T,c.(1522-1524)aCg>aTg,19,86,0,86
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ST3GAL4,6484,11,126228396,126228396,Intron,SNP,C,T,,4,86,0,49
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ADAMTS8,11095,11,130275598,130275598,Missense_Mutation,SNP,G,A,c.(2524-2526)tCt>tTt,31,266,0,170
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,IQSEC3,440073,12,247858,247858,Silent,SNP,C,A,c.(1327-1329)gcC>gcA,4,31,0,57
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ASIC1,41,12,50472370,50472370,Intron,SNP,G,T,,15,110,0,59
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,KRT74,121391,12,52964528,52964528,Silent,SNP,G,A,c.(931-933)atC>atT,14,334,0,213
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,DGKA,1606,12,56345823,56345823,Missense_Mutation,SNP,C,T,c.(1591-1593)gCc>gTc,15,104,0,56
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,GIT2,9815,12,110376281,110376281,Missense_Mutation,SNP,G,C,c.(1906-1908)aCt>aGt,4,81,0,32
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ANAPC5,51433,12,121769216,121769216,Silent,SNP,G,C,c.(964-966)ctC>ctG,8,78,0,50
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,GJA3,2700,13,20716915,20716915,Silent,SNP,G,A,c.(511-513)taC>taT,5,436,0,286
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CDADC1,81602,13,49840038,49840038,Intron,SNP,C,G,,10,131,0,61
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,DOCK9,23348,13,99537669,99537669,Intron,SNP,G,C,,4,91,0,17
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,TRAV17,28666,14,22466119,22466119,RNA,SNP,C,A,,3,6,0,16
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ACTR10,55860,14,58698870,58698870,Missense_Mutation,SNP,G,T,c.(955-957)ttG>ttT,14,86,0,92
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SPTB,6710,14,65262269,65262269,Missense_Mutation,SNP,C,T,c.(1429-1431)cGg>cAg,6,298,0,192
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,VIPAS39,63894,14,77916092,77916092,Missense_Mutation,SNP,C,T,c.(346-348)aGa>aAa,5,281,0,187
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,UNC79,57578,14,94173039,94173039,Intron,SNP,T,C,,4,118,1,74
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,FMN1,342184,15,33066542,33066542,Missense_Mutation,SNP,C,G,c.(4228-4230)cGt>cCt,7,208,1,136
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PAK6,56924,15,40564586,40564586,Silent,SNP,C,G,c.(1018-1020)ggC>ggG,12,88,0,76
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,LTK,4058,15,41797030,41797030,Silent,SNP,G,A,c.(2059-2061)gtC>gtT,4,67,0,50
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CCNDBP1,23582,15,43478381,43478381,Missense_Mutation,SNP,G,A,c.(199-201)Gcc>Acc,22,216,0,142
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SLC24A5,283652,15,48427125,48427125,Silent,SNP,G,A,c.(532-534)gcG>gcA,5,143,0,63
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,MAPK6,5597,15,52342335,52342335,Splice_Site,SNP,G,C,c.e3+1,17,226,0,163
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ANPEP,290,15,90349660,90349660,Missense_Mutation,SNP,G,C,c.(154-156)tCc>tGc,70,139,0,82
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,RGMA,56963,15,93616235,93616235,Missense_Mutation,SNP,C,A,c.(40-42)Gct>Tct,84,243,0,113
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,RPL3L,6123,16,2004083,2004083,Missense_Mutation,SNP,G,A,c.(70-72)Cgg>Tgg,12,106,1,68
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SERPINF2,5345,17,1657473,1657473,Missense_Mutation,SNP,T,A,c.(1120-1122)gTg>gAg,35,176,0,112
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CLUH,23277,17,2598702,2598702,Missense_Mutation,SNP,C,T,c.(2392-2394)cGg>cAg,24,104,0,97
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,GUCY2D,3000,17,7906600,7906600,Silent,SNP,C,T,c.(235-237)Ctg>Ttg,4,123,0,111
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,KRTAP4-11,653240,17,39274418,39274418,Silent,SNP,G,A,c.(148-150)tgC>tgT,8,739,1,383
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,KRTAP4-6,81871,17,39296319,39296319,Missense_Mutation,SNP,G,A,c.(421-423)Cgt>Tgt,151,1312,0,684
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ITGA2B,3674,17,42456012,42456012,Splice_Site,SNP,C,T,c.(1945-1947)Gtg>Atg,17,138,1,77
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ADAM11,4185,17,42852844,42852844,Intron,SNP,G,C,,32,173,0,142
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,DNAH17,8632,17,76481726,76481726,Silent,SNP,C,T,c.(7372-7374)gtG>gtA,18,161,0,96
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CBX4,8535,17,77809013,77809013,Missense_Mutation,SNP,G,A,c.(427-429)cCg>cTg,5,328,0,140
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,HGS,9146,17,79667784,79667784,Silent,SNP,C,T,c.(2074-2076)agC>agT,5,52,0,52
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ZBTB14,7541,18,5291740,5291740,Missense_Mutation,SNP,G,A,c.(466-468)gCt>gTt,4,51,0,40
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SEH1L,81929,18,12986917,12986917,3'UTR,SNP,C,T,,5,203,0,79
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,MISP,126353,19,757574,757574,Missense_Mutation,SNP,G,A,c.(628-630)Gcc>Acc,4,146,0,129
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,MFSD12,126321,19,3548263,3548263,Missense_Mutation,SNP,T,A,c.(511-513)tAt>tTt,21,202,0,192
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,TMIGD2,126259,19,4292690,4292690,Missense_Mutation,SNP,G,T,c.(754-756)cCc>cAc,3,24,0,52
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ZNF564,163050,19,12638006,12638006,Missense_Mutation,SNP,C,T,c.(916-918)Gat>Aat,7,228,0,182
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ZNF737,100129842,19,20728086,20728086,Missense_Mutation,SNP,C,G,c.(922-924)aGc>aCc,5,293,1,207
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ZNF100,163227,19,21910403,21910403,Missense_Mutation,SNP,A,T,c.(709-711)gaT>gaA,4,84,0,68
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ZNF675,171392,19,23845872,23845872,Missense_Mutation,SNP,T,C,c.(91-93)aAt>aGt,5,167,0,119
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CHST8,64377,19,34180305,34180305,Intron,SNP,C,T,,5,43,0,34
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SBSN,374897,19,36018700,36018700,Nonsense_Mutation,SNP,G,A,c.(484-486)Cag>Tag,60,389,1,349
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ZNF529,57711,19,37037960,37037960,Silent,SNP,A,G,c.(1498-1500)caT>caC,4,97,0,74
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,RYR1,6261,19,38990429,38990429,Silent,SNP,C,T,c.(7180-7182)ggC>ggT,29,150,0,198
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CIC,23152,19,42795472,42795472,Missense_Mutation,SNP,C,T,c.(2551-2553)gCg>gTg,5,216,0,117
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,GPR4,2828,19,46094663,46094663,Missense_Mutation,SNP,G,T,c.(460-462)ttC>ttA,7,33,0,49
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,NKG7,4818,19,51875755,51875755,Missense_Mutation,SNP,C,G,c.(34-36)gGc>gCc,23,164,0,109
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,TMC2,117532,20,2539228,2539228,Missense_Mutation,SNP,G,A,c.(208-210)cGg>cAg,68,293,1,223
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ADA,100,20,43255126,43255126,Missense_Mutation,SNP,T,G,c.(331-333)aaA>aaC,58,374,0,232
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,MC3R,4159,20,54824778,54824778,Silent,SNP,C,T,c.(877-879)gtC>gtT,51,282,0,189
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PCK1,5105,20,56140150,56140150,Missense_Mutation,SNP,C,T,c.(1372-1374)gCg>gTg,13,108,0,97
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,KRTAP8-1,337879,21,32185461,32185461,Silent,SNP,G,A,c.(76-78)agC>agT,27,280,0,137
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,SYNJ1,8867,21,34003574,34003574,Missense_Mutation,SNP,C,T,c.(4453-4455)Gag>Aag,10,216,0,134
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,C2CD2,25966,21,43338272,43338272,Missense_Mutation,SNP,C,G,c.(661-663)gGt>gCt,5,198,0,85
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,KRTAP10-3,386682,21,45978421,45978421,Missense_Mutation,SNP,C,T,c.(178-180)Gcg>Acg,42,266,0,263
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ZDHHC8,29801,22,20131082,20131082,Silent,SNP,C,G,c.(1927-1929)tcC>tcG,8,26,0,44
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,ZNF280B,140883,22,22842295,22842295,Missense_Mutation,SNP,C,G,c.(1429-1431)Gag>Cag,8,70,1,56
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CABP7,164633,22,30123641,30123641,Intron,SNP,C,G,,21,121,0,109
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,TOM1,10043,22,35730434,35730434,Silent,SNP,C,A,c.(1141-1143)Cgg>Agg,8,289,1,168
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,APOL2,23780,22,36623480,36623480,Missense_Mutation,SNP,A,T,c.(982-984)caT>caA,14,67,0,32
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,APOBEC3C,27350,22,39413864,39413864,Missense_Mutation,SNP,T,G,c.(268-270)Tgg>Ggg,32,220,0,181
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CACNA1I,8911,22,40042858,40042858,Silent,SNP,G,C,c.(1432-1434)ggG>ggC,5,45,0,98
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,3-Sep,55964,22,42383615,42383615,Intron,SNP,C,T,,4,45,0,27
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,GPR64,10149,X,19024129,19024129,Silent,SNP,G,T,c.(1828-1830)ggC>ggA,7,31,0,24
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,TRMT2B,79979,X,100296297,100296297,Intron,SNP,G,C,,27,62,0,56
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,AMMECR1,9949,X,109561071,109561071,Missense_Mutation,SNP,C,A,c.(229-231)Ggc>Tgc,3,33,0,16
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CACNA1D,776,3,53815672,53815672,Frame_Shift_Del,DEL,C,-,c.(4768-4770)gacfs,43,267,,
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,PIK3CB,5291,3,138374289,138374291,In_Frame_Del,DEL,CTT,-,c.(3151-3156)gaaagc>gac,84,283,,
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,TMEM232,642987,5,109973938,109973942,Frame_Shift_Del,DEL,GAGGG,-,c.(457-462)tccctcfs,4,150,,
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,FOXP4,116113,6,41559113,41559114,Intron,INS,-,A,,10,60,,
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,Unknown,0,9,33624469,33624474,IGR,DEL,ACAGAG,-,,15,161,,
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,RALGDS,5900,9,135979303,135979303,Intron,DEL,A,-,,12,83,,
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,LGALS12,85329,11,63276073,63276078,In_Frame_Del,DEL,ATGGTC,-,c.(184-189)atggtcdel,9,193,,
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,MSLNL,401827,16,828659,828671,Frame_Shift_Del,DEL,GGACCTGCAGCAA,-,c.(250-264)ttgctgcaggtccccfs,14,155,,
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,KRT13,3860,17,39658523,39658524,Intron,INS,-,GGATC,,10,38,,
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,CACNA1A,773,19,13321482,13321482,Intron,DEL,G,-,,31,216,,
RP-1532_PCProject_0683_T2_v3_Exome_OnPrem,MSN,4478,X,64887714,64887715,Frame_Shift_Ins,INS,-,A,c.(7-9)aaafs,46,119,,
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,CCNL2,81669,1,1334362,1334362,Intron,SNP,G,T,,20,34,0,38
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,CA6,765,1,9017287,9017287,Silent,SNP,G,A,c.(349-351)gcG>gcA,5,36,0,45
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,SYCP1,6847,1,115455672,115455672,Missense_Mutation,SNP,A,T,c.(1546-1548)ttA>ttT,4,125,0,69
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,FLG,2312,1,152281714,152281714,Missense_Mutation,SNP,G,C,c.(5647-5649)tCg>tGg,18,373,0,203
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,OLFML2B,25903,1,161967994,161967994,Silent,SNP,G,A,c.(1093-1095)aaC>aaT,17,107,0,26
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,RYR2,6262,1,237755096,237755096,Silent,SNP,C,T,c.(4216-4218)acC>acT,39,108,0,123
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,OR2L5,81466,1,248186098,248186098,Missense_Mutation,SNP,G,A,c.(847-849)atG>atA,11,127,0,63
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,CGREF1,10669,2,27324371,27324371,Missense_Mutation,SNP,C,T,c.(727-729)gGg>gAg,14,122,0,68
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,MGAT4A,11320,2,99237887,99237887,3'UTR,SNP,C,A,,15,69,0,42
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,UGGT1,56886,2,128935409,128935409,Nonsense_Mutation,SNP,C,T,c.(3628-3630)Cag>Tag,5,57,0,34
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ANKRD30BL,554226,2,133014575,133014575,Intron,SNP,G,A,,29,104,0,124
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,CHPF,79586,2,220405322,220405322,Nonsense_Mutation,SNP,G,A,c.(1111-1113)Cag>Tag,8,71,0,31
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,COL6A3,1293,2,238277444,238277444,Silent,SNP,G,A,c.(4660-4662)gaC>gaT,60,155,0,102
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,AC131097.3,0,2,242946302,242946302,RNA,SNP,A,G,,18,259,1,216
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,CELSR3,1951,3,48689028,48689028,Missense_Mutation,SNP,C,T,c.(6046-6048)gGg>gAg,10,23,0,13
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,HESX1,8820,3,57232225,57232225,Nonstop_Mutation,SNP,C,A,c.(556-558)taG>taT,36,119,0,59
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,KPNA1,3836,3,122172820,122172820,Missense_Mutation,SNP,A,G,c.(460-462)aTt>aCt,20,77,0,51
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,U2SURP,23350,3,142735171,142735171,Missense_Mutation,SNP,G,A,c.(394-396)Gtg>Atg,14,97,0,65
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ARHGEF26,26084,3,153870561,153870561,Splice_Site,SNP,G,A,c.(1327-1329)Gct>Act,6,68,0,21
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,LEKR1,389170,3,156710986,156710986,Missense_Mutation,SNP,C,G,c.(115-117)aaC>aaG,10,130,0,29
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,VPS8,23355,3,184573525,184573525,Silent,SNP,G,C,c.(1060-1062)ctG>ctC,17,184,0,105
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,SH3BP2,6452,4,2825305,2825305,Intron,SNP,G,A,,7,47,0,22
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,PARM1,25849,4,75938291,75938291,Missense_Mutation,SNP,A,G,c.(700-702)Ata>Gta,29,96,0,48
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,FGG,2266,4,155533003,155533003,Missense_Mutation,SNP,T,G,c.(355-357)Att>Ctt,22,119,0,41
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ENPP6,133121,4,185138905,185138905,Missense_Mutation,SNP,C,T,c.(67-69)cGc>cAc,11,205,0,107
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ATP10B,23120,5,160047705,160047705,Missense_Mutation,SNP,C,T,c.(2065-2067)Gac>Aac,53,72,0,56
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,BTNL9,153579,5,180486745,180486745,Silent,SNP,G,T,c.(1489-1491)ccG>ccT,27,126,0,102
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ZBTB9,221504,6,33423522,33423522,Silent,SNP,G,A,c.(643-645)gaG>gaA,4,98,0,38
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,DST,667,6,56401607,56401607,Silent,SNP,G,T,c.(16105-16107)gtC>gtA,10,48,0,30
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,AIM1,202,6,106960372,106960372,Silent,SNP,C,T,c.(154-156)aaC>aaT,25,36,0,67
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,IGF2R,3482,6,160511038,160511038,Silent,SNP,G,A,c.(6556-6558)ccG>ccA,22,72,0,49
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,BRAT1,221927,7,2578036,2578036,Silent,SNP,G,A,c.(2131-2133)tgC>tgT,4,234,0,141
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ZNF733P,643955,7,62753195,62753195,RNA,SNP,T,C,,5,177,0,104
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,MUC12,10071,7,100645311,100645311,Missense_Mutation,SNP,C,G,c.(11896-11898)Cgt>Ggt,9,293,0,134
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,CEP41,95681,7,130035569,130035569,3'UTR,SNP,G,A,,54,162,0,78
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,FAM150A,389658,8,53451029,53451029,Missense_Mutation,SNP,C,G,c.(364-366)Gtg>Ctg,61,122,0,68
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,CA8,767,8,61192373,61192373,Nonsense_Mutation,SNP,G,T,c.(166-168)tCa>tAa,40,214,1,67
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,PRDM14,63978,8,70981630,70981630,Missense_Mutation,SNP,C,A,c.(466-468)Gat>Tat,4,63,0,19
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,COL22A1,169044,8,139672672,139672672,Intron,SNP,G,A,,4,156,0,59
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,AGO2,27161,8,141572717,141572717,Missense_Mutation,SNP,G,A,c.(352-354)aCg>aTg,4,119,0,21
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,LRRC24,441381,8,145748375,145748375,Missense_Mutation,SNP,C,G,c.(1024-1026)aaG>aaC,5,73,0,39
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,KIAA1045,23349,9,34976567,34976567,Missense_Mutation,SNP,C,T,c.(679-681)Cgc>Tgc,11,143,0,59
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,SPATA31A6,389730,9,43625258,43625258,Silent,SNP,G,A,c.(3427-3429)ggC>ggT,6,233,0,144
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,PTAR1,375743,9,72347174,72347174,Nonsense_Mutation,SNP,G,A,c.(523-525)Cga>Tga,79,215,0,187
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,SPATA31C1,441452,9,90537002,90537002,RNA,SNP,C,A,,6,371,0,117
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,SETX,23064,9,135205510,135205510,Missense_Mutation,SNP,C,T,c.(1474-1476)tGt>tAt,22,55,0,26
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,SEPHS1,22929,10,13364849,13364849,Missense_Mutation,SNP,C,A,c.(949-951)tGc>tTc,17,170,1,71
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,CUBN,8029,10,16975189,16975189,Silent,SNP,C,T,c.(6019-6021)acG>acA,8,330,0,96
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,AP3M1,26985,10,75898072,75898072,Silent,SNP,G,A,c.(64-66)agC>agT,33,178,0,76
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,PLCE1,51196,10,96033472,96033472,Missense_Mutation,SNP,C,A,c.(4660-4662)Caa>Aaa,66,126,0,142
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,PPRC1,23082,10,103901636,103901636,Missense_Mutation,SNP,C,G,c.(3370-3372)cCa>cGa,50,156,0,135
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ARMS2,387715,10,124214282,124214282,Silent,SNP,G,A,c.(37-39)gcG>gcA,13,142,1,78
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,OR52N1,79473,11,5809631,5809631,Missense_Mutation,SNP,G,A,c.(415-417)aCt>aTt,51,150,0,130
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ABCC8,6833,11,17474778,17474778,Missense_Mutation,SNP,G,T,c.(1063-1065)gCc>gAc,65,113,0,113
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,OR5D16,390144,11,55606880,55606880,Missense_Mutation,SNP,C,T,c.(652-654)aCa>aTa,10,175,0,87
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,KCNK4,50801,11,64060478,64060478,5'UTR,SNP,G,A,,5,53,1,32
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,TECTA,7007,11,121016725,121016725,Silent,SNP,G,C,c.(4003-4005)ggG>ggC,34,214,0,119
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,KCNA1,3736,12,5021107,5021107,Missense_Mutation,SNP,C,T,c.(562-564)aCg>aTg,5,107,0,49
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ADAMTS20,80070,12,43846214,43846214,Splice_Site,SNP,C,G,c.e14-1,14,86,0,39
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ADCY6,112,12,49176545,49176545,Missense_Mutation,SNP,C,T,c.(673-675)Ggg>Agg,23,115,0,76
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,USP30,84749,12,109509472,109509472,Missense_Mutation,SNP,G,A,c.(535-537)cGc>cAc,4,138,0,74
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,UBC,7316,12,125397628,125397628,Silent,SNP,T,C,c.(688-690)caA>caG,15,257,1,158
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,TMEM132C,92293,12,129180603,129180603,Missense_Mutation,SNP,C,G,c.(1882-1884)gaC>gaG,44,104,0,71
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,RIMBP2,23504,12,130907048,130907048,Missense_Mutation,SNP,C,T,c.(2419-2421)cGt>cAt,28,73,0,52
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,C14orf182,283551,14,50474063,50474063,De_novo_Start_OutOfFrame,SNP,G,A,,19,143,0,85
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,PNMA1,9240,14,74179504,74179504,Missense_Mutation,SNP,G,C,c.(838-840)gCc>gGc,7,157,0,51
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,POMT2,29954,14,77778321,77778321,Missense_Mutation,SNP,A,C,c.(304-306)Ttc>Gtc,56,154,0,95
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,MIR337,442905,14,101340840,101340840,RNA,SNP,G,T,,12,59,0,54
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ISLR2,57611,15,74425562,74425562,Missense_Mutation,SNP,A,G,c.(466-468)aAc>aGc,20,140,0,95
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,LINGO1,84894,15,77938852,77938852,Intron,SNP,C,T,,10,33,0,26
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ASB7,140460,15,101169830,101169830,Missense_Mutation,SNP,C,T,c.(400-402)Cgg>Tgg,41,158,0,125
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,EARS2,124454,16,23564433,23564433,Intron,SNP,T,C,,7,20,0,16
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,RBBP6,5930,16,24581246,24581246,Nonsense_Mutation,SNP,C,T,c.(3235-3237)Cag>Tag,53,116,0,77
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,SULT1A2,6799,16,28603408,28603408,Missense_Mutation,SNP,C,T,c.(829-831)Gat>Aat,18,171,0,138
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,EDC4,23644,16,67912269,67912269,Silent,SNP,G,C,c.(1009-1011)ctG>ctC,31,129,0,94
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,HSD17B2,3294,16,82124687,82124687,Intron,SNP,G,A,,25,98,0,138
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,TP53,7157,17,7578413,7578413,Missense_Mutation,SNP,C,A,c.(517-519)Gtg>Ttg,80,102,0,118
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,UBB,7314,17,16285770,16285770,Silent,SNP,A,G,c.(547-549)caA>caG,16,171,0,164
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,C17orf96,100170841,17,36830529,36830529,Nonsense_Mutation,SNP,G,A,c.(220-222)Cag>Tag,12,34,0,31
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,KRT34,3885,17,39538228,39538228,Missense_Mutation,SNP,G,A,c.(397-399)Cgg>Tgg,4,261,0,105
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,NMT1,4836,17,43181088,43181088,Silent,SNP,A,G,c.(1174-1176)ggA>ggG,5,80,0,34
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,DLX4,1748,17,48050449,48050449,Missense_Mutation,SNP,C,T,c.(295-297)cCg>cTg,18,93,0,67
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ABCA5,23461,17,67257278,67257278,Silent,SNP,A,T,c.(3550-3552)atT>atA,50,69,0,20
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,TXNDC2,84203,18,9887643,9887643,Silent,SNP,T,C,c.(1165-1167)atT>atC,13,142,1,115
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,HCN2,610,19,603971,603971,Intron,SNP,A,G,,14,60,0,19
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,PEX11G,92960,19,7543225,7543225,Missense_Mutation,SNP,G,A,c.(466-468)Cgg>Tgg,4,134,0,88
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ZNF559,84527,19,9434861,9434861,5'Flank,SNP,A,T,,6,30,0,68
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,RASAL3,64926,19,15562743,15562743,Missense_Mutation,SNP,G,A,c.(2899-2901)Cgc>Tgc,17,39,0,25
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,TMEM38A,79041,19,16790860,16790860,Missense_Mutation,SNP,G,C,c.(190-192)Ggg>Cgg,25,83,0,80
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,CPAMD8,27151,19,17104250,17104250,Silent,SNP,C,T,c.(1381-1383)acG>acA,22,124,0,71
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ZNF729,100287226,19,22497957,22497957,Missense_Mutation,SNP,G,T,c.(1738-1740)Gct>Tct,6,237,0,109
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,KMT2B,9757,19,36229053,36229053,Silent,SNP,G,A,c.(7831-7833)tcG>tcA,4,133,0,82
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,CEACAM16,388551,19,45211285,45211285,Missense_Mutation,SNP,C,G,c.(1093-1095)Ctg>Gtg,17,67,0,52
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,SIGLEC7,27036,19,51646004,51646004,Silent,SNP,G,A,c.(376-378)gaG>gaA,13,73,0,35
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ZNF71,58491,19,57133701,57133701,Missense_Mutation,SNP,T,C,c.(1045-1047)aTc>aCc,13,118,0,46
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,HELZ2,85441,20,62191973,62191973,Silent,SNP,C,T,c.(7357-7359)ccG>ccA,69,113,1,103
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,BAGE2,85319,21,11058170,11058170,RNA,SNP,G,T,,15,128,0,178
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ABCC13,150000,21,15664013,15664013,RNA,SNP,A,G,,15,79,0,49
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,IGLV2-8,28817,22,23165537,23165537,RNA,SNP,A,G,,18,322,1,191
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,IGLV2-8,28817,22,23165538,23165538,RNA,SNP,G,A,,17,324,1,192
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,SHOX,6473,X,595526,595526,Missense_Mutation,SNP,A,G,c.(451-453)Agc>Ggc,68,100,0,97
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,GPKOW,27238,X,48980044,48980044,Missense_Mutation,SNP,G,T,c.(28-30)cCg>cAg,22,34,0,75
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ACRC,93953,X,70823950,70823950,Missense_Mutation,SNP,C,T,c.(823-825)Ccc>Tcc,12,99,0,72
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,ATP7A,538,X,77298239,77298239,Missense_Mutation,SNP,A,G,c.(3958-3960)Aca>Gca,37,136,0,106
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,USP26,83844,X,132160029,132160029,Silent,SNP,C,T,c.(2218-2220)caG>caA,12,103,0,58
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,FER1L5,90342,2,97356281,97356283,RNA,DEL,AAG,-,,43,180,,
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,Unknown,0,3,122380771,122380774,IGR,DEL,GAGT,-,,22,89,,
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,PABPC3,5042,13,25672167,25672167,Frame_Shift_Del,DEL,G,-,c.(1831-1833)gccfs,53,202,,
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,FHOD3,80206,18,34339052,34339056,Intron,DEL,GTCCT,-,,4,149,,
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,PPM1N,147699,19,46004011,46004012,Intron,INS,-,CC,,21,71,,
RP-1532_PCProject_0002_BLOOD_v1_Exome_OnPrem,SYCP2,10388,20,58470463,58470464,Intron,DEL,TT,-,,27,39,,
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,EPHA8,2046,1,22923796,22923796,Intron,SNP,G,C,,20,106,1,25
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,EPHA8,2046,1,22923801,22923801,Intron,SNP,T,C,,32,102,1,24
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,RUNX3,864,1,25291005,25291005,Splice_Site,SNP,C,T,c.(58-60)Gac>Aac,23,159,0,77
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,WDR78,79819,1,67306313,67306313,Missense_Mutation,SNP,T,G,c.(1333-1335)Aaa>Caa,18,271,0,160
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,LPHN2,23266,1,82302743,82302743,Splice_Site,SNP,G,T,c.e5+1,10,42,0,35
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,SLC6A17,388662,1,110740838,110740838,Silent,SNP,C,T,c.(1954-1956)tcC>tcT,6,295,0,144
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,OLFML2B,25903,1,161970129,161970129,Splice_Site,SNP,C,T,c.e5-1,5,126,1,58
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,GPR161,23432,1,168065791,168065791,Nonsense_Mutation,SNP,G,A,c.(1054-1056)Cga>Tga,13,151,0,54
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,CACNA1E,777,1,181745336,181745336,Missense_Mutation,SNP,G,A,c.(5239-5241)Gtc>Atc,31,179,0,72
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,CNTN2,6900,1,205027678,205027678,Intron,SNP,C,T,,70,113,0,44
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,PRSS38,339501,1,228005151,228005151,Missense_Mutation,SNP,G,A,c.(553-555)Gct>Act,29,169,0,76
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,RYR2,6262,1,237732537,237732537,Silent,SNP,C,G,c.(3514-3516)acC>acG,11,162,0,96
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,COLEC11,78989,2,3691639,3691639,Silent,SNP,C,T,c.(745-747)ggC>ggT,6,809,0,270
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,NT5C1B,93034,2,18768369,18768369,Missense_Mutation,SNP,C,T,c.(190-192)cGc>cAc,11,221,0,71
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,ITSN2,50618,2,24484438,24484438,Silent,SNP,A,C,c.(2527-2529)acT>acG,19,49,0,50
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,C2orf16,84226,2,27802899,27802899,Missense_Mutation,SNP,C,T,c.(3460-3462)Cgc>Tgc,15,212,0,106
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,ALK,238,2,29917858,29917858,Silent,SNP,G,A,c.(808-810)ttC>ttT,81,259,1,137
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,ATP6V1B1,525,2,71190292,71190292,Splice_Site,SNP,G,C,c.(910-912)Gtc>Ctc,154,414,0,191
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,EN1,2019,2,119600629,119600629,Missense_Mutation,SNP,C,T,c.(1063-1065)cGc>cAc,128,352,0,179
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,AC093838.4,0,2,132277246,132277246,RNA,SNP,G,A,,39,105,0,43
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,MROH2A,339766,2,234707439,234707439,Silent,SNP,G,A,c.(1270-1272)agG>agA,52,121,0,48
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,CDC25A,993,3,48205822,48205822,Missense_Mutation,SNP,A,G,c.(1297-1299)Ttt>Ctt,6,96,0,38
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,ARL13B,200894,3,93758720,93758720,Intron,SNP,A,G,,58,191,0,85
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,COL6A5,256076,3,130107891,130107891,Missense_Mutation,SNP,A,G,c.(2329-2331)gAt>gGt,4,21,0,25
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,WDR49,151790,3,167322153,167322153,Missense_Mutation,SNP,C,A,c.(37-39)atG>atT,40,91,0,98
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,SRD5A3,79644,4,56225655,56225655,Splice_Site,SNP,G,A,c.(364-366)Gga>Aga,75,152,0,104
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,C4orf21,0,4,113506853,113506853,Missense_Mutation,SNP,T,A,c.(3943-3945)ttA>ttT,5,22,0,31
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,ZNF827,152485,4,146744678,146744678,Splice_Site,SNP,C,T,c.e8-1,13,120,0,85
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,CBR4,84869,4,169923348,169923348,Missense_Mutation,SNP,C,A,c.(409-411)Gtt>Ttt,5,32,1,16
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,C5orf34,375444,5,43505874,43505874,Missense_Mutation,SNP,C,T,c.(907-909)aGc>aAc,22,65,0,17
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,FBXL17,64839,5,107216678,107216678,Intron,SNP,C,T,,17,48,0,74
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,PCDHGB3,56102,5,140795301,140795301,Intron,SNP,A,T,,10,48,1,20
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,CLINT1,9685,5,157218958,157218958,Missense_Mutation,SNP,A,G,c.(1132-1134)tTc>tCc,20,403,0,90
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,FGF18,8817,5,170883760,170883760,Missense_Mutation,SNP,C,T,c.(574-576)aCg>aTg,48,318,0,93
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,BTN2A2,10385,6,26385391,26385391,Silent,SNP,G,A,c.(241-243)gtG>gtA,6,392,1,168
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,EYS,346007,6,66044911,66044911,Missense_Mutation,SNP,T,A,c.(1726-1728)caA>caT,5,119,0,101
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,RSPH3,83861,6,159403543,159403543,Nonsense_Mutation,SNP,G,A,c.(1096-1098)Caa>Taa,15,105,0,69
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,COL1A2,1278,7,94038123,94038123,Silent,SNP,C,G,c.(778-780)gcC>gcG,6,722,0,179
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,ZNF467,168544,7,149463311,149463311,Missense_Mutation,SNP,G,A,c.(280-282)Cgg>Tgg,10,51,0,16
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,GIMAP1,170575,7,150417421,150417421,Missense_Mutation,SNP,C,T,c.(328-330)cCc>cTc,43,73,0,34
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,SMARCD3,6604,7,150936565,150936565,Missense_Mutation,SNP,C,T,c.(1315-1317)Ggc>Agc,41,189,0,80
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,RAB11FIP1,80223,8,37728869,37728869,Missense_Mutation,SNP,C,G,c.(3451-3453)Gcc>Ccc,99,193,0,70
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,RAB11FIP1,80223,8,37729330,37729330,Missense_Mutation,SNP,C,G,c.(2989-2991)gGa>gCa,83,194,0,83
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,RAB11FIP1,80223,8,37729359,37729359,Missense_Mutation,SNP,C,G,c.(2959-2961)gaG>gaC,83,191,0,97
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,RAB11FIP1,80223,8,37729408,37729408,Missense_Mutation,SNP,C,G,c.(2911-2913)aGa>aCa,77,195,0,102
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,RAB11FIP1,80223,8,37729619,37729619,Missense_Mutation,SNP,C,T,c.(2701-2703)Gaa>Aaa,97,215,0,62
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,ANKRD46,157567,8,101540203,101540203,Silent,SNP,G,A,c.(340-342)Ctg>Ttg,24,244,1,70
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,CSMD3,114788,8,113236999,113236999,3'UTR,SNP,G,A,,48,647,0,156
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,UTP23,84294,8,117779000,117779000,Missense_Mutation,SNP,T,G,c.(157-159)cTc>cGc,23,24,0,39
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,SHARPIN,81858,8,145157944,145157944,Intron,SNP,G,A,,73,41,0,85
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,NEK6,10783,9,127076258,127076258,Silent,SNP,C,T,c.(286-288)ctC>ctT,33,146,0,66
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,MYO3A,53904,10,26457632,26457632,Intron,SNP,A,T,,49,103,1,123
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,MARVELD1,83742,10,99474015,99474015,Missense_Mutation,SNP,C,A,c.(382-384)Ctc>Atc,16,126,0,136
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,ATRNL1,26033,10,117704185,117704185,Missense_Mutation,SNP,T,A,c.(4033-4035)agT>agA,4,80,0,55
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,MRPL23,6150,11,1977503,1977503,Silent,SNP,C,T,c.(313-315)ttC>ttT,46,93,0,57
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,KIAA1549L,25758,11,33581376,33581376,Missense_Mutation,SNP,G,A,c.(3046-3048)Gtc>Atc,44,329,0,113
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,RAD9A,5883,11,67159699,67159699,Missense_Mutation,SNP,C,G,c.(100-102)gaC>gaG,12,49,0,48
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,FXYD2,486,11,117693184,117693184,Missense_Mutation,SNP,C,T,c.(76-78)Gtt>Att,97,377,0,131
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,BCL9L,283149,11,118768581,118768581,3'UTR,SNP,C,T,,18,177,0,79
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,IGSF9B,22997,11,133821992,133821992,Intron,SNP,G,A,,21,89,0,37
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,SOX5,6660,12,23696208,23696208,Missense_Mutation,SNP,C,T,c.(1708-1710)Gaa>Aaa,17,82,0,69
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,LRRIQ1,84125,12,85449972,85449972,Silent,SNP,A,G,c.(1399-1401)gaA>gaG,6,24,0,41
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,SNRPF,6636,12,96259137,96259137,Missense_Mutation,SNP,G,T,c.(163-165)ttG>ttT,13,41,0,60
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,SELPLG,6404,12,109017608,109017608,Missense_Mutation,SNP,G,A,c.(475-477)aCg>aTg,12,592,0,312
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,COL4A1,1282,13,110826782,110826782,Intron,SNP,G,A,,7,470,0,156
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,OR11H7,390441,14,20697987,20697987,RNA,SNP,A,T,,73,183,0,122
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,EXOC3L4,91828,14,103570643,103570643,Nonsense_Mutation,SNP,G,T,c.(1201-1203)Gag>Tag,19,40,0,43
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,IGDCC4,57722,15,65678295,65678295,Missense_Mutation,SNP,C,A,c.(3052-3054)ttG>ttT,20,199,0,106
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,PTPN9,5780,15,75798114,75798114,Missense_Mutation,SNP,C,G,c.(868-870)gaG>gaC,12,338,0,135
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,KIAA0430,9665,16,15692983,15692983,Intron,SNP,T,A,,14,104,0,25
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,PIEZO1,9780,16,88798855,88798855,Missense_Mutation,SNP,G,A,c.(2878-2880)cCg>cTg,35,107,0,107
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,ABR,29,17,915644,915644,Intron,SNP,C,T,,61,59,0,76
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,TP53,7157,17,7578389,7578389,Missense_Mutation,SNP,G,A,c.(541-543)Cgc>Tgc,138,188,0,187
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,MYO15A,51168,17,18045066,18045066,Nonsense_Mutation,SNP,C,G,c.(5629-5631)taC>taG,8,659,0,163
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,KRT27,342574,17,38938638,38938638,Silent,SNP,G,A,c.(106-108)tgC>tgT,19,301,0,99
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,KRTAP4-9,100132386,17,39261717,39261717,Missense_Mutation,SNP,G,A,c.(76-78)cGc>cAc,37,561,0,136
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,DHX58,79132,17,40259618,40259618,Intron,SNP,T,C,,15,67,1,30
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,SCN4A,6329,17,62024403,62024403,Splice_Site,SNP,A,C,c.e18+1,29,272,1,52
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,SCN4A,6329,17,62024407,62024407,Missense_Mutation,SNP,T,C,c.(3439-3441)Agg>Ggg,31,253,2,55
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,SDK2,54549,17,71386451,71386451,Silent,SNP,G,A,c.(4165-4167)gcC>gcT,10,71,1,28
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,METTL4,64863,18,2554724,2554724,Missense_Mutation,SNP,G,A,c.(772-774)cCa>cTa,39,107,1,115
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,ZNF737,100129842,19,20727651,20727651,Missense_Mutation,SNP,T,G,c.(1357-1359)tAc>tCc,47,191,0,138
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,ZNF726,730087,19,24116274,24116274,Silent,SNP,C,T,c.(1354-1356)ccC>ccT,5,275,0,113
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,ATP4A,495,19,36051798,36051798,Missense_Mutation,SNP,C,T,c.(457-459)Gtc>Atc,112,297,0,117
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,RYR1,6261,19,38932987,38932987,Splice_Site,SNP,A,C,c.e3-1,19,217,0,95
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,FCGBP,8857,19,40398397,40398397,Silent,SNP,G,A,c.(6568-6570)gaC>gaT,7,505,0,206
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,GRIK5,2901,19,42507761,42507761,Missense_Mutation,SNP,G,A,c.(2338-2340)Cgc>Tgc,4,129,0,40
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,ZNF577,84765,19,52376938,52376938,Missense_Mutation,SNP,C,G,c.(304-306)aGa>aCa,21,45,0,38
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,ZNF581,51545,19,56156086,56156086,Missense_Mutation,SNP,C,G,c.(148-150)cCc>cGc,28,188,0,101
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,MAVS,57506,20,3845111,3845111,Silent,SNP,C,T,c.(832-834)gcC>gcT,55,193,0,106
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,SSTR4,6754,20,23016929,23016929,Missense_Mutation,SNP,T,C,c.(808-810)cTc>cCc,27,226,0,136
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,OGFR,11054,20,61442859,61442859,Missense_Mutation,SNP,T,C,c.(511-513)Tac>Cac,19,293,0,139
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,AC008132.13,0,22,18835271,18835271,Missense_Mutation,SNP,C,T,c.(826-828)gCc>gTc,213,1985,1,1324
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,MMEL1,79258,1,2535561,2535562,Intron,INS,-,C,,26,69,,
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,ABCD3,5825,1,94933620,94933621,Intron,DEL,TA,-,,28,31,,
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,RBPJ,3516,4,26431505,26431508,Intron,DEL,TTCT,-,,28,69,,
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,FGF11,2256,17,7346398,7346404,Frame_Shift_Del,DEL,CCATGTA,-,c.(610-618)gccatgtacfs,28,49,,
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,WNK4,65266,17,40948036,40948037,Frame_Shift_Del,DEL,AG,-,c.(3415-3417)cagfs,30,248,,
RP-1532_PCProject_0009_BLOOD_P_v1_Exome_OnPrem,IGSF1,3547,X,130424371,130424372,5'Flank,INS,-,T,,21,14,,
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,PLEKHN1,84069,1,907742,907742,Missense_Mutation,SNP,G,A,c.(1096-1098)Gct>Act,4,262,0,165
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,C1orf170,0,1,914792,914792,Missense_Mutation,SNP,C,T,c.(1276-1278)Gcc>Acc,9,71,0,41
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,PLCH2,9651,1,2418755,2418755,Missense_Mutation,SNP,T,A,c.(1054-1056)Tcc>Acc,17,281,0,228
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,PLCH2,9651,1,2418756,2418756,Missense_Mutation,SNP,C,A,c.(1054-1056)tCc>tAc,17,276,1,225
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,CROCC,9696,1,17270692,17270692,Silent,SNP,C,T,c.(1906-1908)Ctg>Ttg,7,291,1,206
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,HPDL,84842,1,45793051,45793051,Silent,SNP,C,T,c.(229-231)agC>agT,8,193,0,150
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,SPAG17,200162,1,118574453,118574453,Missense_Mutation,SNP,G,C,c.(3469-3471)atC>atG,4,198,0,115
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,THEM4,117145,1,151881869,151881869,Silent,SNP,C,T,c.(64-66)cgG>cgA,4,104,0,126
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ASH1L,55870,1,155532799,155532799,5'Flank,SNP,C,T,,4,115,1,117
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,OR10R2,343406,1,158450545,158450545,Missense_Mutation,SNP,T,A,c.(877-879)cTg>cAg,11,162,0,91
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,DDR2,4921,1,162725045,162725045,Missense_Mutation,SNP,T,G,c.(517-519)Tcc>Gcc,21,714,0,276
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,LMX1A,4009,1,165175136,165175136,Missense_Mutation,SNP,G,A,c.(952-954)cCa>cTa,27,201,0,144
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,FAM20B,9917,1,179023738,179023738,Missense_Mutation,SNP,C,T,c.(538-540)gCc>gTc,19,267,0,140
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,CACNA1E,777,1,181689354,181689354,Silent,SNP,C,T,c.(1762-1764)tcC>tcT,11,132,0,64
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,PHLDA3,23612,1,201437572,201437572,Missense_Mutation,SNP,G,A,c.(343-345)Cgg>Tgg,6,351,0,269
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,TRAF5,7188,1,211533371,211533371,Nonsense_Mutation,SNP,G,T,c.(496-498)Gaa>Taa,16,149,0,111
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,NID1,4811,1,236208968,236208968,Missense_Mutation,SNP,C,T,c.(541-543)Gct>Act,8,258,0,102
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ACTN2,88,1,236883499,236883499,Intron,SNP,A,G,,36,303,0,119
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,RYR2,6262,1,237947093,237947093,Silent,SNP,G,A,c.(12079-12081)acG>acA,25,406,0,157
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,OR2M3,127062,1,248366527,248366527,Missense_Mutation,SNP,C,T,c.(157-159)aCc>aTc,42,241,0,169
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ITSN2,50618,2,24427548,24427548,Intron,SNP,G,A,,19,235,0,134
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,SMYD5,10322,2,73447319,73447319,Splice_Site,SNP,G,C,c.e3+1,8,132,0,71
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,TET3,200424,2,74320760,74320760,Missense_Mutation,SNP,G,C,c.(2827-2829)aaG>aaC,10,95,0,86
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,CTNNA2,1496,2,80816537,80816537,Missense_Mutation,SNP,G,A,c.(2116-2118)Gac>Aac,13,162,0,124
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,LYG1,129530,2,99907784,99907784,Silent,SNP,A,T,c.(247-249)ccT>ccA,8,188,0,137
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,GPR148,344561,2,131487018,131487018,Silent,SNP,C,T,c.(292-294)gcC>gcT,11,220,0,154
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,LRP1B,53353,2,141771144,141771144,Nonsense_Mutation,SNP,A,T,c.(2359-2361)taT>taA,12,105,0,53
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,KYNU,8942,2,143718320,143718320,Missense_Mutation,SNP,C,T,c.(709-711)aCa>aTa,11,171,0,107
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,PIKFYVE,200576,2,209136397,209136397,Missense_Mutation,SNP,C,G,c.(154-156)Ctc>Gtc,7,167,0,91
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,PTH2R,5746,2,209292932,209292932,Missense_Mutation,SNP,T,C,c.(82-84)Tct>Cct,4,131,0,77
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,CPS1,1373,2,211444502,211444502,Intron,SNP,C,T,,81,348,0,134
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,CPS1,1373,2,211444505,211444505,Intron,SNP,C,T,,82,344,0,135
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,OBSL1,23363,2,220433052,220433052,Intron,SNP,G,T,,9,101,0,35
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,UGT1A6,54578,2,234652450,234652450,Intron,SNP,T,A,,6,517,0,251
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,TRAF3IP1,26146,2,239306288,239306288,Silent,SNP,G,A,c.(1876-1878)agG>agA,5,210,0,190
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,KIF1A,547,2,241724479,241724479,Missense_Mutation,SNP,C,T,c.(646-648)cGc>cAc,4,163,0,100
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,IL17RC,84818,3,9974346,9974346,Missense_Mutation,SNP,C,T,c.(1654-1656)gCg>gTg,12,282,1,264
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ZFYVE20,64145,3,15116276,15116276,Silent,SNP,T,G,c.(1366-1368)tcA>tcC,18,325,0,267
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,MAATS1,89876,3,119421979,119421979,Missense_Mutation,SNP,G,A,c.(34-36)Gcc>Acc,4,83,0,71
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,HLTF,6596,3,148759427,148759427,Missense_Mutation,SNP,C,G,c.(2224-2226)aaG>aaC,5,138,0,80
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,NFXL1,152518,4,47901141,47901141,Intron,SNP,G,A,,10,72,1,42
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,CNGA1,1259,4,47938711,47938711,Silent,SNP,C,T,c.(1798-1800)aaG>aaA,6,402,0,162
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,PDGFRA,5156,4,55127460,55127460,Missense_Mutation,SNP,C,T,c.(247-249)aCg>aTg,34,303,0,143
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ADH1C,126,4,100261778,100261778,RNA,SNP,A,G,,12,353,0,159
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,CBR4,84869,4,169923345,169923345,Missense_Mutation,SNP,C,A,c.(412-414)Ggc>Tgc,8,60,0,28
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,CBR4,84869,4,169923348,169923348,Missense_Mutation,SNP,C,A,c.(409-411)Gtt>Ttt,14,52,1,25
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,TARS,6897,5,33453419,33453419,Missense_Mutation,SNP,A,T,c.(355-357)Att>Ttt,20,213,1,158
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ERBB2IP,55914,5,65374368,65374368,3'UTR,SNP,A,C,,11,179,0,136
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,HIST1H1C,3006,6,26056189,26056189,Silent,SNP,C,T,c.(466-468)aaG>aaA,29,274,0,182
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,DPCR1,135656,6,30918522,30918522,Missense_Mutation,SNP,G,C,c.(2281-2283)Gaa>Caa,42,690,0,299
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,PRDM1,639,6,106552891,106552891,Missense_Mutation,SNP,C,T,c.(856-858)Cgt>Tgt,11,230,0,152
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,RNF217,154214,6,125366560,125366560,Silent,SNP,C,A,c.(1084-1086)ccC>ccA,8,101,0,73
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ARHGAP18,93663,6,129929194,129929194,Missense_Mutation,SNP,G,A,c.(1126-1128)Ctt>Ttt,10,67,2,62
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,TAAR3,9288,6,132929910,132929910,RNA,SNP,C,T,,13,200,0,121
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,QKI,9444,6,163991723,163991723,Intron,SNP,C,T,,18,244,0,133
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,AP5Z1,9907,7,4825149,4825149,Intron,SNP,G,A,,4,159,0,93
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,GPNMB,10457,7,23313216,23313216,Missense_Mutation,SNP,C,G,c.(1540-1542)atC>atG,5,201,0,165
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,GPR22,2845,7,107114888,107114888,Nonsense_Mutation,SNP,C,A,c.(382-384)tCa>tAa,17,283,0,181
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,GSTK1,373156,7,142962242,142962242,Intron,SNP,C,T,,13,277,0,300
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,FUT10,84750,8,33247210,33247210,Silent,SNP,T,C,c.(481-483)aaA>aaG,9,291,0,183
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,RP1,6101,8,55539453,55539453,Missense_Mutation,SNP,T,C,c.(3010-3012)cTc>cCc,10,445,1,190
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,PREX2,80243,8,69028022,69028022,Missense_Mutation,SNP,G,C,c.(3181-3183)Gaa>Caa,4,97,0,49
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,NECAB1,64168,8,91804215,91804215,Splice_Site,SNP,T,G,c.e1+2,6,185,0,86
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,CDH17,1015,8,95160978,95160978,Missense_Mutation,SNP,C,T,c.(1921-1923)Gaa>Aaa,12,141,1,70
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ANKRD46,157567,8,101540203,101540203,Silent,SNP,G,A,c.(340-342)Ctg>Ttg,25,173,1,88
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,FBXO10,26267,9,37516060,37516060,Missense_Mutation,SNP,G,C,c.(2536-2538)tCg>tGg,6,107,0,85
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,TLE1,7088,9,84208098,84208098,Missense_Mutation,SNP,C,A,c.(1423-1425)Gct>Tct,17,253,0,183
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,DOLPP1,57171,9,131847495,131847495,Missense_Mutation,SNP,C,T,c.(271-273)aCa>aTa,9,180,0,122
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,UAP1L1,91373,9,139972880,139972880,Intron,SNP,C,T,,7,102,0,58
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,CYP26A1,1592,10,94835650,94835650,Missense_Mutation,SNP,C,T,c.(931-933)tCt>tTt,20,171,0,117
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,PIPSL,266971,10,95720247,95720247,RNA,SNP,G,A,,62,493,0,312
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,MRGPRG,386746,11,3239221,3239221,Missense_Mutation,SNP,C,T,c.(823-825)Gcc>Acc,3,37,0,48
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,CSNK2A3,283106,11,11374429,11374429,Missense_Mutation,SNP,G,A,c.(238-240)Cgt>Tgt,25,454,1,256
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,MRGPRX1,259249,11,18955403,18955403,Missense_Mutation,SNP,T,C,c.(928-930)gAg>gGg,8,323,0,119
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,CAPRIN1,4076,11,34118174,34118174,Silent,SNP,T,C,c.(1852-1854)gcT>gcC,19,197,0,105
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,SIPA1,6494,11,65408954,65408954,Missense_Mutation,SNP,G,A,c.(562-564)Gca>Aca,9,146,0,242
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,LRP5,4041,11,68154084,68154084,Missense_Mutation,SNP,G,A,c.(1315-1317)cGc>cAc,4,231,1,167
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,GRM5,2915,11,88242532,88242532,Missense_Mutation,SNP,G,A,c.(2866-2868)aCg>aTg,16,190,0,211
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,DYNC2H1,79659,11,103060469,103060469,Missense_Mutation,SNP,T,C,c.(7360-7362)cTg>cCg,17,109,0,68
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,OPCML,4978,11,132399001,132399001,Missense_Mutation,SNP,A,C,c.(478-480)atT>atG,9,204,0,118
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,IGSF9B,22997,11,133806052,133806052,Silent,SNP,G,A,c.(715-717)acC>acT,6,247,0,169
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,FGF6,2251,12,4537562,4537562,5'UTR,SNP,T,C,,8,69,0,40
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,CD163L1,283316,12,7548741,7548741,Missense_Mutation,SNP,C,A,c.(1999-2001)tGg>tTg,4,157,0,59
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,DENND5B,160518,12,31633136,31633136,Silent,SNP,G,A,c.(289-291)ccC>ccT,6,92,0,62
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,FGD4,121512,12,32786542,32786542,Missense_Mutation,SNP,G,C,c.(1819-1821)ttG>ttC,13,215,0,136
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ESYT1,23344,12,56537410,56537410,Missense_Mutation,SNP,G,A,c.(3271-3273)cGg>cAg,23,259,0,199
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ARHGAP9,64333,12,57868765,57868765,Intron,SNP,G,A,,24,151,0,125
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,SACS,26278,13,23906476,23906476,Missense_Mutation,SNP,T,A,c.(11539-11541)Att>Ttt,5,271,0,107
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,FANCM,57697,14,45644314,45644314,Missense_Mutation,SNP,A,G,c.(2356-2358)cAa>cGa,11,139,0,62
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,TUBGCP5,114791,15,22855220,22855220,Missense_Mutation,SNP,A,C,c.(1681-1683)Atg>Ctg,31,377,0,160
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,CYFIP1,23191,15,22956328,22956328,Missense_Mutation,SNP,C,T,c.(271-273)cCc>cTc,11,246,0,148
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,GOLGA6L2,283685,15,23686556,23686556,Missense_Mutation,SNP,T,C,c.(1066-1068)Aag>Gag,5,344,1,168
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,SNHG14,0,15,25448399,25448399,RNA,SNP,G,C,,29,241,0,171
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,SLC24A5,283652,15,48413253,48413253,Silent,SNP,A,G,c.(10-12)aaA>aaG,5,125,0,78
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,IGDCC4,57722,15,65678285,65678285,Missense_Mutation,SNP,C,A,c.(3064-3066)Gtg>Ttg,22,253,0,134
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,PEAK1,79834,15,77472432,77472432,Missense_Mutation,SNP,C,T,c.(1837-1839)Gag>Aag,9,314,0,202
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,POLG,5428,15,89864358,89864358,Missense_Mutation,SNP,T,C,c.(2731-2733)cAt>cGt,47,489,0,330
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,IGFALS,3483,16,1842153,1842153,Missense_Mutation,SNP,A,G,c.(265-267)gTc>gCc,5,232,0,154
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ZSCAN32,54925,16,3433332,3433332,Silent,SNP,C,T,c.(1612-1614)cgG>cgA,5,271,0,168
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,UMOD,7369,16,20355433,20355433,Missense_Mutation,SNP,C,T,c.(1243-1245)cGt>cAt,6,455,1,228
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,CLN3,1201,16,28493686,28493686,Silent,SNP,G,A,c.(922-924)ttC>ttT,44,374,0,323
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,NDRG4,65009,16,58545389,58545389,Missense_Mutation,SNP,C,T,c.(967-969)tCg>tTg,12,156,0,141
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,CDH8,1006,16,61689558,61689558,Missense_Mutation,SNP,T,G,c.(1720-1722)ttA>ttC,22,375,0,236
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,VAT1L,57687,16,77859337,77859337,Silent,SNP,G,T,c.(556-558)gtG>gtT,10,248,0,169
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,TCF25,22980,16,89971388,89971388,Silent,SNP,G,C,c.(1510-1512)ggG>ggC,4,196,0,173
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,SLFN12,55106,17,33749970,33749970,Missense_Mutation,SNP,G,T,c.(76-78)aaC>aaA,6,98,0,67
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,KANSL1,284058,17,44143935,44143935,Missense_Mutation,SNP,G,C,c.(1816-1818)Cga>Gga,12,137,0,73
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,EPB41L3,23136,18,5415858,5415858,Missense_Mutation,SNP,C,T,c.(2026-2028)Gcc>Acc,22,231,0,107
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,PPP4R1,9989,18,9595095,9595095,Missense_Mutation,SNP,C,A,c.(109-111)Gac>Tac,10,197,0,143
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,IMPA2,3613,18,12008470,12008470,Intron,SNP,C,T,,4,213,0,128
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,POTEC,388468,18,14542743,14542743,Missense_Mutation,SNP,C,T,c.(403-405)Gtc>Atc,56,716,1,607
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ZNF563,147837,19,12429626,12429626,Missense_Mutation,SNP,G,C,c.(1213-1215)Cct>Gct,5,261,0,116
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,FCGBP,8857,19,40360937,40360937,Silent,SNP,G,A,c.(15469-15471)tgC>tgT,31,509,0,304
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,LILRB2,10288,19,54783638,54783638,Intron,SNP,C,T,,24,139,0,64
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,SSC5D,284297,19,56029240,56029240,Silent,SNP,C,T,c.(3595-3597)ccC>ccT,4,60,0,33
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ENTPD6,955,20,25190479,25190479,Intron,SNP,C,G,,11,96,0,66
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,BCAS1,8537,20,52675189,52675189,Nonsense_Mutation,SNP,G,T,c.(67-69)taC>taA,6,139,1,89
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,VAPB,9217,20,57025073,57025073,3'UTR,SNP,A,G,,64,528,0,211
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ZNF831,128611,20,57828949,57828949,Intron,SNP,G,C,,4,27,0,21
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ZNF512B,57473,20,62626398,62626398,Intron,SNP,C,G,,20,395,1,217
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,UMODL1,89766,21,43504329,43504329,Missense_Mutation,SNP,G,A,c.(454-456)cGc>cAc,8,134,0,76
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,COL6A1,1291,21,47422307,47422307,Missense_Mutation,SNP,G,A,c.(2242-2244)Ggc>Agc,6,310,0,172
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,DIP2A,23181,21,47987287,47987287,Missense_Mutation,SNP,G,A,c.(4468-4470)Gta>Ata,4,113,0,63
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,PARVB,29780,22,44496003,44496003,Splice_Site,SNP,G,A,c.(271-273)aaG>aaA,20,181,0,149
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ARMCX4,100131755,X,100749649,100749649,Missense_Mutation,SNP,A,T,c.(6073-6075)Act>Tct,13,107,0,77
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,RHOXF1,158800,X,119249458,119249458,Silent,SNP,A,C,c.(313-315)acT>acG,5,16,0,11
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,ZNF280C,55609,X,129370548,129370548,Missense_Mutation,SNP,T,C,c.(559-561)Aaa>Gaa,26,83,0,73
RP-1532_PCProject_0029_BLOOD_P_v1_Exome_OnPrem,KRTAP2-2,728279,17,39211049,39211050,3'UTR,INS,-,GCAGGGGGGCCGGCA,,10,12,,
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,MIB2,142678,1,1562052,1562052,Missense_Mutation,SNP,A,C,c.(1168-1170)gAc>gCc,14,81,0,28
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,PUM1,9698,1,31426698,31426698,Silent,SNP,T,A,c.(2452-2454)cgA>cgT,55,388,0,165
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,TMEM69,51249,1,46159146,46159146,Silent,SNP,C,T,c.(313-315)Cta>Tta,36,268,0,118
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,COL11A1,1301,1,103471859,103471859,Missense_Mutation,SNP,C,T,c.(1696-1698)Gtc>Atc,34,278,1,153
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,HORMAD1,84072,1,150689617,150689617,Missense_Mutation,SNP,C,G,c.(175-177)Gat>Cat,11,140,0,44
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,MUC1,4582,1,155161732,155161732,Missense_Mutation,SNP,G,T,c.(400-402)cCa>cAa,10,101,0,14
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,CFHR5,81494,1,196967393,196967393,Missense_Mutation,SNP,T,C,c.(1105-1107)gTc>gCc,72,176,0,87
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,LPIN1,23175,2,11925174,11925174,Silent,SNP,C,A,c.(1411-1413)ggC>ggA,26,267,1,54
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,C2orf71,388939,2,29295539,29295539,Missense_Mutation,SNP,C,T,c.(1588-1590)aGg>aAg,74,613,0,255
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,PLEKHH2,130271,2,43937699,43937699,Missense_Mutation,SNP,C,A,c.(2284-2286)aaC>aaA,12,212,1,74
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,FOXI3,344167,2,88751690,88751690,RNA,SNP,G,C,,6,44,0,49
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,CPS1,1373,2,211521279,211521279,Nonsense_Mutation,SNP,G,T,c.(3589-3591)Gaa>Taa,15,403,0,190
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,C2orf62,0,2,219225382,219225382,Splice_Site,SNP,G,A,c.(460-462)gaG>gaA,10,63,0,37
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,COL6A3,1293,2,238245167,238245167,Missense_Mutation,SNP,G,A,c.(8575-8577)cCg>cTg,42,181,0,68
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,STAB1,23166,3,52556432,52556432,Silent,SNP,C,T,c.(6550-6552)tgC>tgT,67,392,0,127
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,CADM2,253559,3,86115812,86115812,Intron,SNP,C,T,,62,158,0,93
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,PIK3CA,5290,3,178952085,178952085,Missense_Mutation,SNP,A,G,c.(3139-3141)cAt>cGt,38,99,0,48
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,FGFR3,2261,4,1801167,1801167,Missense_Mutation,SNP,C,T,c.(295-297)gCc>gTc,5,391,0,140
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,HELQ,113510,4,84364773,84364773,Intron,SNP,A,G,,6,28,0,8
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,CCNA2,890,4,122740679,122740679,Missense_Mutation,SNP,C,T,c.(850-852)Gat>Aat,21,194,0,91
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,TRIP13,9319,5,893107,893107,5'UTR,SNP,G,T,,10,82,0,92
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,NPR3,4883,5,32711981,32711981,Silent,SNP,C,T,c.(97-99)ggC>ggT,4,48,0,18
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,CAMK4,814,5,110809011,110809011,Missense_Mutation,SNP,C,T,c.(628-630)Cct>Tct,34,198,0,111
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,LECT2,3950,5,135277286,135277286,Intron,SNP,C,T,,45,325,0,81
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,PCDHA13,56136,5,140263569,140263569,Silent,SNP,C,T,c.(1714-1716)agC>agT,6,611,0,205
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,FBXO38,81545,5,147807318,147807318,Missense_Mutation,SNP,C,T,c.(2461-2463)Cca>Tca,20,105,0,45
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,HTR4,3360,5,147861157,147861157,3'UTR,SNP,T,C,,6,120,0,63
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,DOCK2,1794,5,169484643,169484643,Silent,SNP,C,G,c.(4438-4440)cgC>cgG,41,211,0,59
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,ELOVL2,54898,6,10990029,10990029,Silent,SNP,G,A,c.(670-672)gtC>gtT,5,273,0,96
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,MDGA1,266727,6,37605884,37605884,Intron,SNP,C,G,,7,113,0,21
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,SRF,6722,6,43139808,43139808,Silent,SNP,G,A,c.(412-414)aaG>aaA,16,60,0,65
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,ANKRD66,100287718,6,46714674,46714674,Silent,SNP,C,A,c.(16-18)Cgg>Agg,22,199,0,95
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,QRSL1,55278,6,107102740,107102740,Missense_Mutation,SNP,G,A,c.(985-987)Gta>Ata,24,120,0,77
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,SCAF8,22828,6,155116279,155116279,Intron,SNP,C,T,,14,110,0,63
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,AC005013.5,0,7,28995586,28995586,lincRNA,SNP,C,T,,4,200,0,56
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,KIAA0895,23366,7,36396760,36396760,Silent,SNP,G,C,c.(616-618)gtC>gtG,6,243,1,86
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,MGAM,8972,7,141786095,141786095,Intron,SNP,G,A,,5,227,0,63
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,GIMAP6,474344,7,150327218,150327218,Missense_Mutation,SNP,C,T,c.(13-15)Gaa>Aaa,26,186,1,57
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,KAT6A,7994,8,41790211,41790211,Nonsense_Mutation,SNP,G,A,c.(5527-5529)Cag>Tag,34,200,0,83
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,PXDNL,137902,8,52321899,52321899,Missense_Mutation,SNP,C,T,c.(2284-2286)cGc>cAc,19,79,0,43
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,ZFHX4,79776,8,77694385,77694385,Intron,SNP,C,T,,10,87,1,65
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,SPATA31D1,389763,9,84606758,84606758,Missense_Mutation,SNP,T,C,c.(1372-1374)aTt>aCt,6,620,0,243
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,ACTL7B,10880,9,111617357,111617357,Missense_Mutation,SNP,T,C,c.(853-855)gAc>gGc,13,80,0,20
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,GPR107,57720,9,132837923,132837923,Silent,SNP,G,T,c.(148-150)gtG>gtT,20,61,0,52
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,RXRA,6256,9,137313844,137313844,Intron,SNP,T,A,,11,229,1,64
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,DMBT1,1755,10,124402921,124402921,3'UTR,SNP,G,A,,5,149,0,50
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,BRSK2,9024,11,1481729,1481729,Splice_Site,SNP,G,A,c.e20-1,7,68,0,61
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,SNX15,29907,11,64808619,64808619,IGR,SNP,G,A,,3,36,0,55
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,CD248,57124,11,66083914,66083914,Silent,SNP,G,A,c.(583-585)ttC>ttT,5,496,0,143
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,CREBZF,58487,11,85375324,85375324,Missense_Mutation,SNP,C,T,c.(595-597)gGt>gAt,45,290,1,256
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,VWA5A,4013,11,123988384,123988384,Silent,SNP,G,A,c.(46-48)ccG>ccA,5,507,0,131
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,Unknown,0,11,124029156,124029156,IGR,SNP,T,C,,18,193,0,74
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,Unknown,0,11,124029158,124029158,IGR,SNP,A,T,,15,206,0,74
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,CCDC77,84318,12,550944,550944,Missense_Mutation,SNP,C,A,c.(1324-1326)aCa>aAa,15,221,1,56
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,SLC26A10,65012,12,58016870,58016870,Missense_Mutation,SNP,G,C,c.(1003-1005)Gct>Cct,55,310,0,124
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,STAB2,55576,12,104131424,104131424,Silent,SNP,C,T,c.(5563-5565)Ctg>Ttg,12,122,1,93
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,SRRM4,84530,12,119419758,119419758,Missense_Mutation,SNP,C,T,c.(70-72)gCc>gTc,5,282,0,82
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,GCN1L1,10985,12,120622055,120622055,Intron,SNP,A,G,,4,137,0,48
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,LATS2,26524,13,21549230,21549230,Missense_Mutation,SNP,C,T,c.(3046-3048)Gaa>Aaa,68,400,0,176
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,ZAR1L,646799,13,32885484,32885484,Silent,SNP,C,T,c.(577-579)ccG>ccA,47,202,0,95
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,RB1,5925,13,49030331,49030331,Intron,SNP,T,G,,26,145,0,77
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,ABCC4,10257,13,95695989,95695989,Missense_Mutation,SNP,C,T,c.(3682-3684)Gtg>Atg,4,233,0,103
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,RPGRIP1,57096,14,21762913,21762913,Missense_Mutation,SNP,G,A,c.(163-165)Gaa>Aaa,4,210,0,69
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,KIAA0391,9692,14,35779421,35779421,Intron,SNP,A,G,,17,124,0,80
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,KIAA0586,9786,14,58906804,58906804,Intron,SNP,G,T,,18,124,1,80
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,ISM2,145501,14,77964891,77964891,Intron,SNP,G,A,,4,137,0,73
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,C14orf180,400258,14,105057794,105057794,IGR,SNP,G,A,,43,327,0,94
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,IGHV4-59,28392,14,107082727,107082727,RNA,SNP,G,A,,6,123,1,43
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,IGDCC4,57722,15,65678285,65678285,Missense_Mutation,SNP,C,A,c.(3064-3066)Gtg>Ttg,33,337,1,116
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,IGDCC4,57722,15,65678287,65678287,Missense_Mutation,SNP,A,G,c.(3061-3063)cTt>cCt,28,361,0,122
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,IGDCC4,57722,15,65678295,65678295,Missense_Mutation,SNP,C,A,c.(3052-3054)ttG>ttT,39,365,1,119
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,ITGAX,3687,16,31393140,31393140,Missense_Mutation,SNP,G,A,c.(3403-3405)cGt>cAt,14,111,0,55
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,HERPUD1,9709,16,56970689,56970689,Missense_Mutation,SNP,C,A,c.(391-393)Ctt>Att,25,171,0,104
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,COG8,84342,16,69373410,69373410,Missense_Mutation,SNP,C,T,c.(46-48)Gcg>Acg,31,188,0,292
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,TCF25,22980,16,89940140,89940140,Missense_Mutation,SNP,G,T,c.(64-66)gGc>gTc,21,56,0,78
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,TP53,7157,17,7578406,7578406,Missense_Mutation,SNP,C,T,c.(523-525)cGc>cAc,11,343,0,177
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,ZNF18,7566,17,11887511,11887511,Missense_Mutation,SNP,G,T,c.(670-672)Cag>Aag,7,98,1,71
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,TVP23C,201158,17,15469059,15469059,5'Flank,SNP,C,T,,11,921,1,373
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,LOXHD1,125336,18,44140120,44140120,Missense_Mutation,SNP,C,T,c.(2152-2154)cGc>cAc,6,962,0,151
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,TCF4,6925,18,53128242,53128242,Intron,SNP,G,T,,45,417,0,135
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,FBN3,84467,19,8191363,8191363,Missense_Mutation,SNP,C,T,c.(2542-2544)cGc>cAc,39,206,0,57
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,TSHZ3,57616,19,31768253,31768253,Missense_Mutation,SNP,C,T,c.(2446-2448)Gca>Aca,4,109,0,53
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,APOL1,8542,22,36650978,36650978,5'UTR,SNP,T,C,,6,392,0,161
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,WDR44,54521,X,117582860,117582860,Silent,SNP,T,C,c.(2650-2652)atT>atC,3,42,0,15
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,CNGA2,1260,X,150912641,150912641,Missense_Mutation,SNP,C,T,c.(1666-1668)Ctt>Ttt,50,85,0,37
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,KLKB1,3818,4,187177073,187177076,Intron,DEL,AGAA,-,,16,71,,
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,RP11-1023L17.1,0,5,34182663,34182672,RNA,DEL,AAAGCTCAGA,-,,8,175,,
RP-1532_PCProject_0030_BLOOD_P_v1_Exome_OnPrem,RTTN,25914,18,67718665,67718665,Frame_Shift_Del,DEL,G,-,c.(5305-5307)cacfs,44,256,,
RP-1532_PCProject_0083_BLOOD_P_v1_Exome_OnPrem,STRIP1,85369,1,110577405,110577405,Missense_Mutation,SNP,G,A,c.(145-147)cGc>cAc,3,36,0,30
RP-1532_PCProject_0083_BLOOD_P_v1_Exome_OnPrem,DNM3,26052,1,172001646,172001646,Intron,SNP,G,T,,14,109,0,82
RP-1532_PCProject_0083_BLOOD_P_v1_Exome_OnPrem,SASH1,23328,6,148792572,148792572,Silent,SNP,G,A,c.(445-447)aaG>aaA,23,179,1,88
RP-1532_PCProject_0083_BLOOD_P_v1_Exome_OnPrem,SDK1,221935,7,4002487,4002487,Intron,SNP,A,G,,6,115,2,64
RP-1532_PCProject_0083_BLOOD_P_v1_Exome_OnPrem,HMCN2,256158,9,133305073,133305073,Splice_Site,SNP,G,T,c.e10+1,4,44,0,14
RP-1532_PCProject_0083_BLOOD_P_v1_Exome_OnPrem,RNF126,55658,19,650224,650224,Intron,SNP,A,T,,5,82,1,34
RP-1532_PCProject_0083_BLOOD_P_v1_Exome_OnPrem,RNF126,55658,19,650227,650227,Intron,SNP,C,T,,6,81,0,35
RP-1532_PCProject_0083_BLOOD_P_v1_Exome_OnPrem,APC2,10297,19,1467816,1467816,Missense_Mutation,SNP,G,A,c.(4516-4518)Gtg>Atg,3,40,0,53
RP-1532_PCProject_0083_BLOOD_P_v1_Exome_OnPrem,ZNF814,730051,19,58385879,58385879,Silent,SNP,T,C,c.(877-879)gaA>gaG,8,200,0,101
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,HSPG2,3339,1,22198701,22198701,Missense_Mutation,SNP,G,A,c.(4198-4200)cCg>cTg,6,275,0,74
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,ZMYND12,84217,1,42914250,42914250,Silent,SNP,G,A,c.(310-312)caC>caT,28,206,0,84
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,MROH7,374977,1,55151939,55151939,Silent,SNP,C,T,c.(2527-2529)agC>agT,46,278,0,50
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,RAB25,57111,1,156035759,156035759,Missense_Mutation,SNP,G,T,c.(100-102)cGc>cTc,8,77,0,34
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,SPTA1,6708,1,158623105,158623105,Missense_Mutation,SNP,C,A,c.(3145-3147)gaG>gaT,83,492,0,175
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,VSIG8,391123,1,159828549,159828549,Missense_Mutation,SNP,T,C,c.(202-204)gAc>gGc,20,100,3,49
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,OLFML2B,25903,1,161989818,161989818,Missense_Mutation,SNP,G,A,c.(328-330)tCa>tTa,35,398,0,154
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,RXRG,6258,1,165386337,165386337,Missense_Mutation,SNP,C,T,c.(562-564)cGc>cAc,24,215,0,71
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,DNM3,26052,1,172001646,172001646,Intron,SNP,G,T,,9,103,1,79
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,TNFSF4,7292,1,173176208,173176208,Silent,SNP,C,T,c.(106-108)ctG>ctA,11,132,0,62
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,CACNA1E,777,1,181702813,181702813,Silent,SNP,C,G,c.(3187-3189)gcC>gcG,23,150,2,43
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,ZNF648,127665,1,182027001,182027001,Missense_Mutation,SNP,C,T,c.(145-147)Gct>Act,62,343,0,128
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,LMOD1,25802,1,201868631,201868631,Missense_Mutation,SNP,C,T,c.(1510-1512)Gtg>Atg,44,442,0,148
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,USH2A,7399,1,216369983,216369983,Missense_Mutation,SNP,T,C,c.(4162-4164)aAt>aGt,55,345,0,150
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,OBSCN,84033,1,228552684,228552684,Missense_Mutation,SNP,G,A,c.(18844-18846)Gtg>Atg,5,261,0,44
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,B3GALNT2,148789,1,235667492,235667492,Silent,SNP,G,A,c.(61-63)Ctg>Ttg,3,23,0,82
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,RYR2,6262,1,237494170,237494170,Intron,SNP,C,A,,52,344,0,145
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,RYR2,6262,1,237617767,237617767,Missense_Mutation,SNP,C,A,c.(1369-1371)Cag>Aag,35,208,0,91
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,OR2M2,391194,1,248344224,248344224,Nonsense_Mutation,SNP,G,T,c.(937-939)Gag>Tag,47,277,0,111
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,OR2T11,127077,1,248789704,248789704,Missense_Mutation,SNP,C,A,c.(724-726)ttG>ttT,33,257,0,107
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,SNTG2,54221,2,1204880,1204880,Missense_Mutation,SNP,G,A,c.(682-684)cGc>cAc,38,349,0,124
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,RHOB,388,2,20647486,20647486,Missense_Mutation,SNP,A,T,c.(259-261)gAc>gTc,10,138,1,81
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,SLC30A3,7781,2,27477983,27477983,3'UTR,SNP,C,T,,8,107,0,37
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,PLB1,151056,2,28851960,28851960,Splice_Site,SNP,G,C,c.e53-1,13,135,0,35
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,EIF2AK2,5610,2,37342368,37342368,Intron,SNP,T,G,,4,43,1,21
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,EML6,400954,2,55086722,55086722,Missense_Mutation,SNP,G,A,c.(1708-1710)cGc>cAc,29,335,0,161
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,AC114783.1,0,2,127657129,127657129,Missense_Mutation,SNP,C,T,c.(250-252)aCg>aTg,9,94,1,36
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,LRP1B,53353,2,140992354,140992354,Splice_Site,SNP,C,A,c.e90+1,36,202,0,70
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,PRSS50,29122,3,46784052,46784052,Intron,SNP,C,A,,38,294,0,87
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,MON1A,84315,3,49949118,49949118,Missense_Mutation,SNP,G,A,c.(478-480)Cgc>Tgc,5,226,0,70
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,FAM19A4,151647,3,68802103,68802103,Missense_Mutation,SNP,C,T,c.(196-198)cGc>cAc,6,456,1,160
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,RP11-59E19.1,0,3,108867096,108867096,lincRNA,SNP,G,T,,5,127,0,50
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,GOLGB1,2804,3,121417744,121417744,Missense_Mutation,SNP,G,C,c.(1609-1611)agC>agG,6,75,0,30
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,WHSC1,7468,4,1902556,1902556,Nonsense_Mutation,SNP,G,T,c.(175-177)Gag>Tag,22,233,0,68
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,DTHD1,401124,4,36307866,36307866,Missense_Mutation,SNP,A,C,c.(1321-1323)aAa>aCa,29,157,0,68
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,NPFFR2,10886,4,73012885,73012885,Missense_Mutation,SNP,C,T,c.(925-927)Cgg>Tgg,39,269,0,79
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,HERC6,55008,4,89361040,89361040,Missense_Mutation,SNP,C,T,c.(2569-2571)tCt>tTt,10,54,1,20
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,ADH6,130,4,100137325,100137325,Missense_Mutation,SNP,C,G,c.(112-114)cGc>cCc,10,89,1,38
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,RP11-766F14.2,0,4,100573244,100573244,Silent,SNP,G,A,c.(2560-2562)agC>agT,54,328,0,99
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,ENPEP,2028,4,111397732,111397732,Silent,SNP,G,A,c.(160-162)gcG>gcA,13,82,0,52
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,ZNF827,152485,4,146744678,146744678,Splice_Site,SNP,C,T,c.e8-1,15,184,0,91
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,FGA,2243,4,155505566,155505566,Missense_Mutation,SNP,C,T,c.(2311-2313)Gta>Ata,19,199,0,62
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,RPL37,6167,5,40832823,40832823,Intron,SNP,C,T,,5,31,0,16
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,PCDHB8,56128,5,140559673,140559673,Silent,SNP,T,G,c.(2056-2058)tcT>tcG,11,642,0,274
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,C6orf10,10665,6,32261268,32261268,Missense_Mutation,SNP,C,A,c.(1180-1182)caG>caT,44,469,0,152
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,EYA4,2070,6,133802716,133802716,Silent,SNP,G,A,c.(1084-1086)ccG>ccA,76,647,1,217
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,SLC35D3,340146,6,137243625,137243625,Missense_Mutation,SNP,T,A,c.(58-60)gTc>gAc,14,106,1,95
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,PPP1R14C,81706,6,150464388,150464388,Silent,SNP,G,T,c.(58-60)cgG>cgT,6,57,0,49
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,FNDC1,84624,6,159653361,159653361,Missense_Mutation,SNP,C,T,c.(1816-1818)aCg>aTg,17,151,0,62
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,ZNF277,11179,7,111926940,111926940,Missense_Mutation,SNP,G,T,c.(103-105)tGt>tTt,15,106,1,58
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,FOXP2,93986,7,114331079,114331079,IGR,SNP,G,T,,23,479,0,180
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,COPG2,26958,7,130337708,130337708,Splice_Site,SNP,C,A,c.e5+1,8,272,0,150
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,AGBL3,340351,7,134694875,134694875,Silent,SNP,G,A,c.(391-393)agG>agA,5,77,0,29
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,MGAM,8972,7,141786095,141786095,Intron,SNP,G,A,,6,127,0,29
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,VIPR2,7434,7,158823466,158823466,Silent,SNP,C,A,c.(1156-1158)ctG>ctT,12,115,0,49
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,BMP1,649,8,22052026,22052026,Missense_Mutation,SNP,C,T,c.(1366-1368)Cgg>Tgg,30,318,0,117
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,SFRP1,6422,8,41132845,41132845,Intron,SNP,T,G,,13,68,0,28
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,THAP1,55145,8,42693436,42693436,Missense_Mutation,SNP,G,T,c.(310-312)cCt>cAt,28,172,0,59
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,OC90,729330,8,133053947,133053947,Splice_Site,SNP,C,T,c.e5-1,10,76,0,19
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,FOCAD,54914,9,20948849,20948849,Splice_Site,SNP,G,T,c.e34-1,32,224,0,130
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,NPR2,4882,9,35809468,35809468,3'UTR,SNP,G,T,,55,470,0,142
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,FRMPD1,22844,9,37740808,37740808,Silent,SNP,C,T,c.(2281-2283)gcC>gcT,31,296,0,84
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,FRMPD1,22844,9,37740809,37740809,Missense_Mutation,SNP,T,C,c.(2284-2286)Ttt>Ctt,31,285,0,84
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,DFNB31,25861,9,117186763,117186763,Nonsense_Mutation,SNP,G,A,c.(1267-1269)Cga>Tga,53,543,0,127
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,KIAA1984,0,9,139694577,139694577,Missense_Mutation,SNP,C,T,c.(394-396)Cgg>Tgg,4,181,0,82
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,ABCA2,20,9,139903302,139903302,Missense_Mutation,SNP,C,G,c.(6946-6948)Gtg>Ctg,27,243,0,125
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,CACNA1B,774,9,140938312,140938312,Missense_Mutation,SNP,G,A,c.(3373-3375)Gtc>Atc,7,202,0,40
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,ZFYVE27,118813,10,99508054,99508054,Missense_Mutation,SNP,C,T,c.(484-486)Cgc>Tgc,58,489,0,207
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,PCGF6,84108,10,105110539,105110539,Silent,SNP,C,T,c.(283-285)gaG>gaA,4,107,0,59
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,SCUBE2,57758,11,9113054,9113054,Missense_Mutation,SNP,G,T,c.(22-24)Cgt>Agt,3,17,0,23
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,NAV2,89797,11,19914059,19914059,Nonsense_Mutation,SNP,C,T,c.(919-921)Cga>Tga,19,242,0,127
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,PRDM11,56981,11,45246272,45246272,Missense_Mutation,SNP,G,A,c.(1348-1350)cGc>cAc,84,536,0,196
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,TSKU,25987,11,76507065,76507065,Silent,SNP,C,T,c.(403-405)gaC>gaT,38,330,0,101
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,KMT2D,8085,12,49434435,49434435,Missense_Mutation,SNP,G,A,c.(7117-7119)tCc>tTc,18,277,0,79
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,SMARCC2,6601,12,56572788,56572788,Silent,SNP,G,A,c.(1132-1134)acC>acT,4,277,0,112
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,TAOK3,51347,12,118588808,118588808,Nonsense_Mutation,SNP,G,T,c.(2689-2691)taC>taA,12,71,0,37
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,WDR66,144406,12,122359256,122359256,Missense_Mutation,SNP,T,A,c.(43-45)aaT>aaA,14,125,0,23
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,HIP1R,9026,12,123334922,123334922,Intron,SNP,G,A,,4,208,0,67
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,RIMBP2,23504,12,130927002,130927002,Missense_Mutation,SNP,C,T,c.(844-846)Gcc>Acc,40,496,0,123
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,GOLGA3,2802,12,133349812,133349812,Missense_Mutation,SNP,G,A,c.(4375-4377)tCg>tTg,5,131,0,40
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,TPTE2,93492,13,20000654,20000654,Silent,SNP,A,G,c.(1306-1308)Ttg>Ctg,5,167,0,57
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,TPTE2,93492,13,20000660,20000660,Intron,SNP,A,G,,6,163,0,51
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,TPTE2,93492,13,20041467,20041467,Missense_Mutation,SNP,G,A,c.(409-411)tCt>tTt,10,77,1,49
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,COL4A2,1284,13,111160464,111160464,Missense_Mutation,SNP,T,C,c.(4777-4779)Tgt>Cgt,28,398,0,185
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,SEC23A,10484,14,39556165,39556165,Silent,SNP,A,T,c.(649-651)ggT>ggA,15,325,0,197
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,AHNAK2,113146,14,105415563,105415563,Missense_Mutation,SNP,C,A,c.(6223-6225)gaG>gaT,3,4,0,11
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,IGDCC4,57722,15,65678285,65678285,Missense_Mutation,SNP,C,A,c.(3064-3066)Gtg>Ttg,26,333,0,84
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,IGDCC4,57722,15,65678287,65678287,Missense_Mutation,SNP,A,G,c.(3061-3063)cTt>cCt,44,343,1,83
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,IGDCC4,57722,15,65678293,65678293,Missense_Mutation,SNP,T,C,c.(3055-3057)gAg>gGg,30,371,1,80
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,IGDCC4,57722,15,65678295,65678295,Missense_Mutation,SNP,C,A,c.(3052-3054)ttG>ttT,33,370,1,79
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,WDR61,80349,15,78587781,78587781,Intron,SNP,C,T,,10,136,1,39
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,ADAMTS7,11173,15,79059270,79059270,Missense_Mutation,SNP,G,A,c.(2983-2985)Cgg>Tgg,4,110,0,45
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,ADAMTS7,11173,15,79059275,79059275,Missense_Mutation,SNP,A,G,c.(2977-2979)cTc>cCc,4,112,0,45
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,PDPR,55066,16,70166133,70166133,Silent,SNP,G,A,c.(925-927)ccG>ccA,7,622,0,277
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,ADAD2,161931,16,84228084,84228084,Missense_Mutation,SNP,A,T,c.(454-456)gAt>gTt,24,338,1,108
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,TP53,7157,17,7579349,7579349,Missense_Mutation,SNP,A,C,c.(337-339)tTc>tGc,22,169,0,68
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,MPP2,4355,17,41958959,41958959,Splice_Site,SNP,T,G,c.e8-2,15,191,0,68
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,UNC13D,201294,17,73830543,73830543,Missense_Mutation,SNP,A,G,c.(2161-2163)Tgg>Cgg,71,606,0,268
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,P4HB,5034,17,79804517,79804517,Intron,SNP,A,T,,17,184,0,69
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,CDH2,1000,18,25570189,25570189,Silent,SNP,G,A,c.(1468-1470)gaC>gaT,15,281,0,96
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,PNPLA6,10908,19,7604795,7604795,Intron,SNP,T,C,,18,151,1,69
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,RAD23A,5886,19,13059574,13059574,Missense_Mutation,SNP,G,A,c.(547-549)Gcc>Acc,4,181,0,53
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,CYP4F3,4051,19,15770094,15770094,Missense_Mutation,SNP,C,A,c.(1462-1464)Cgc>Agc,15,204,0,146
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,ZNF99,7652,19,22939089,22939089,IGR,SNP,T,C,,33,257,0,104
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,ZNF730,100129543,19,23316956,23316956,Silent,SNP,G,A,c.(76-78)caG>caA,31,260,1,111
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,ZNF573,126231,19,38229698,38229698,Missense_Mutation,SNP,G,A,c.(1693-1695)Cgt>Tgt,8,201,1,70
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,SLC17A7,57030,19,49934383,49934383,Silent,SNP,G,A,c.(1276-1278)caC>caT,17,155,0,45
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,IL4I1,259307,19,50399102,50399102,Silent,SNP,G,A,c.(220-222)gcC>gcT,7,500,1,129
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,RRBP1,6238,20,17616270,17616270,Missense_Mutation,SNP,T,C,c.(2377-2379)Acg>Gcg,48,486,0,173
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,IFT52,51098,20,42249520,42249520,Silent,SNP,G,A,c.(721-723)acG>acA,9,268,0,127
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,FAM3B,54097,21,42694641,42694641,Intron,SNP,C,T,,10,93,0,35
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,NF2,4771,22,30090766,30090766,Missense_Mutation,SNP,G,A,c.(1762-1764)cGa>cAa,65,726,0,267
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,DUSP21,63904,X,44703733,44703733,Missense_Mutation,SNP,G,A,c.(355-357)Gcg>Acg,45,122,0,36
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,MED12,9968,X,70351422,70351422,Missense_Mutation,SNP,G,A,c.(4069-4071)cGc>cAc,47,170,0,83
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,MAGEC3,139081,X,140984651,140984651,Intron,SNP,C,T,,76,328,0,95
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,DDX59,83479,1,200635140,200635146,Frame_Shift_Del,DEL,AATGTCT,-,c.(721-729)agagacattfs,17,156,,
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,NCK2,8440,2,106497944,106497949,In_Frame_Del,DEL,GTTGTC,-,c.(385-393)gagttgtcc>gac,31,245,,
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,ACVR2B,93,3,38523995,38523999,Frame_Shift_Del,DEL,GTGGT,-,c.(1288-1293)gtggtgfs,25,354,,
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,SNCA,6622,4,90749345,90749350,Intron,DEL,CAAATT,-,,20,269,,
RP-1532_PCProject_0093_BLOOD_P_v1_Exome_OnPrem,GRIN2B,2904,12,13719976,13719976,Frame_Shift_Del,DEL,C,-,c.(2581-2583)gtcfs,42,223,,
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,PRDM16,63976,1,3334481,3334481,Missense_Mutation,SNP,C,G,c.(2779-2781)caC>caG,11,130,0,35
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,PLEKHG5,57449,1,6530871,6530871,Missense_Mutation,SNP,G,T,c.(1633-1635)aCc>aAc,11,213,0,88
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,RSC1A1,6248,1,15986636,15986636,Missense_Mutation,SNP,G,T,c.(271-273)caG>caT,22,254,0,117
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,MECR,51102,1,29520535,29520535,Nonstop_Mutation,SNP,C,G,c.(1120-1122)tGa>tCa,12,211,0,80
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,B4GALT2,8704,1,44447496,44447496,Missense_Mutation,SNP,C,T,c.(448-450)cCc>cTc,7,181,0,133
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,STIL,6491,1,47770693,47770693,Intron,SNP,A,C,,7,116,0,113
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,DHCR24,1718,1,55337259,55337259,Missense_Mutation,SNP,C,T,c.(640-642)Gta>Ata,5,523,2,213
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,LPAR3,23566,1,85331778,85331778,Missense_Mutation,SNP,T,A,c.(25-27)cAc>cTc,7,108,0,69
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,GSTM2,2946,1,110212167,110212167,Missense_Mutation,SNP,G,A,c.(334-336)Gcc>Acc,4,101,0,51
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,FCGR1A,2209,1,149764258,149764258,IGR,SNP,C,T,,21,188,0,95
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,MTX1,4580,1,155180145,155180145,Silent,SNP,C,A,c.(535-537)gcC>gcA,4,156,0,57
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,VSIG8,391123,1,159828547,159828547,Missense_Mutation,SNP,G,A,c.(205-207)Ccc>Tcc,12,84,0,55
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,VSIG8,391123,1,159828555,159828555,Missense_Mutation,SNP,T,A,c.(196-198)aAc>aTc,15,79,1,62
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,UAP1,6675,1,162557379,162557379,Missense_Mutation,SNP,T,G,c.(949-951)Tca>Gca,12,128,0,82
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,GORAB,92344,1,170521459,170521459,Missense_Mutation,SNP,T,G,c.(1039-1041)ttT>ttG,32,572,0,361
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,PRRC2C,23215,1,171553264,171553264,Missense_Mutation,SNP,C,T,c.(7573-7575)Cat>Tat,8,325,0,184
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,CACNA1E,777,1,181702804,181702804,Silent,SNP,G,T,c.(3178-3180)acG>acT,12,106,0,51
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,CACNA1E,777,1,181702813,181702813,Silent,SNP,C,G,c.(3187-3189)gcC>gcG,17,101,0,49
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,CHIT1,1118,1,203194941,203194941,Missense_Mutation,SNP,T,C,c.(112-114)gAg>gGg,7,504,1,243
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,IRF6,3664,1,209969855,209969855,Missense_Mutation,SNP,C,T,c.(217-219)Gac>Aac,12,263,0,161
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,C1orf65,0,1,223567958,223567958,Missense_Mutation,SNP,G,C,c.(1141-1143)Gag>Cag,30,185,0,148
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,OR2T1,26696,1,248569640,248569640,Missense_Mutation,SNP,C,A,c.(343-345)caC>caA,13,136,0,90
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,STRN,6801,2,37076654,37076654,Missense_Mutation,SNP,G,C,c.(2287-2289)tCc>tGc,12,164,0,110
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,DYSF,8291,2,71838371,71838371,Intron,SNP,G,A,,6,361,1,195
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,IL1RL1,9173,2,102956611,102956611,Missense_Mutation,SNP,C,T,c.(325-327)tCa>tTa,4,25,0,24
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,POLR1B,84172,2,113331397,113331397,Intron,SNP,G,C,,10,80,0,59
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,LRP2,4036,2,170007491,170007491,Silent,SNP,A,G,c.(12505-12507)gcT>gcC,4,238,0,167
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,TTN,7273,2,179542897,179542897,Missense_Mutation,SNP,T,G,c.(32998-33000)Aaa>Caa,14,205,1,192
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,CNTN6,27255,3,1444046,1444046,Missense_Mutation,SNP,A,T,c.(2860-2862)gaA>gaT,12,49,0,36
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,TTC21A,199223,3,39170328,39170328,Missense_Mutation,SNP,G,C,c.(1822-1824)Gaa>Caa,5,542,0,191
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,TTC21A,199223,3,39170417,39170417,Silent,SNP,G,A,c.(1909-1911)ggG>ggA,23,223,0,100
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,CTNNB1,1499,3,41266113,41266113,Missense_Mutation,SNP,C,T,c.(109-111)tCt>tTt,25,393,0,245
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,RBM6,10180,3,50098915,50098915,Missense_Mutation,SNP,T,C,c.(2374-2376)Tat>Cat,29,205,0,108
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,PARP15,165631,3,122351032,122351032,Missense_Mutation,SNP,T,C,c.(1537-1539)tTc>tCc,24,354,0,164
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ITGB5,3693,3,124485068,124485068,Intron,SNP,C,A,,12,79,0,55
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,CCDC39,339829,3,180334658,180334658,Missense_Mutation,SNP,C,T,c.(2362-2364)Gaa>Aaa,9,94,0,98
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ZNF595,152687,4,86164,86164,3'UTR,SNP,A,C,,5,274,0,315
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,KCNIP4,80333,4,21698982,21698982,Intron,SNP,G,A,,12,88,0,84
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,DNAH5,1767,5,13841165,13841165,Silent,SNP,T,C,c.(5557-5559)aaA>aaG,16,265,0,188
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,KIAA0141,9812,5,141314161,141314161,Intron,SNP,C,G,,10,193,0,94
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,FAT2,2196,5,150892059,150892059,Missense_Mutation,SNP,C,T,c.(11572-11574)Gag>Aag,17,292,0,165
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,DPCR1,135656,6,30918452,30918452,Silent,SNP,A,G,c.(2209-2211)ccA>ccG,9,647,0,329
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,LY6G6F,259215,6,31678181,31678181,Missense_Mutation,SNP,T,A,c.(853-855)caT>caA,12,230,0,115
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ITPR3,3710,6,33655352,33655352,Intron,SNP,G,C,,19,160,1,43
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,UHRF1BP1,54887,6,34827010,34827010,Silent,SNP,A,G,c.(2875-2877)ccA>ccG,6,265,0,148
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,KCNK16,83795,6,39286898,39286898,Missense_Mutation,SNP,T,A,c.(223-225)gaA>gaT,9,130,0,77
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,PPP2R5D,5528,6,42978402,42978402,Splice_Site,SNP,G,T,c.(1480-1482)aaG>aaT,17,271,0,128
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,GRIK2,2898,6,102337630,102337630,Missense_Mutation,SNP,G,A,c.(1639-1641)gGt>gAt,32,346,0,304
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,PPIL6,285755,6,109752536,109752536,Nonsense_Mutation,SNP,C,A,c.(244-246)Gaa>Taa,11,84,0,50
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,FNDC1,84624,6,159654196,159654196,Silent,SNP,G,A,c.(2650-2652)ccG>ccA,11,273,0,173
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,SMOC2,64094,6,169051382,169051382,Missense_Mutation,SNP,A,T,c.(928-930)cAt>cTt,9,129,0,80
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,CYP2W1,54905,7,1024174,1024174,Missense_Mutation,SNP,C,A,c.(301-303)Ccc>Acc,28,289,1,148
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,THSD7A,221981,7,11419250,11419250,Intron,SNP,C,T,,11,127,0,68
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,NACAD,23148,7,45123066,45123066,Missense_Mutation,SNP,G,T,c.(2713-2715)Cct>Act,8,209,1,140
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,POM121L12,285877,7,53103801,53103801,Missense_Mutation,SNP,G,A,c.(436-438)cGt>cAt,24,197,0,160
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,DNAJB6,10049,7,157202627,157202627,Missense_Mutation,SNP,C,G,c.(829-831)tCt>tGt,10,208,0,133
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,GPR124,25960,8,37693120,37693120,Missense_Mutation,SNP,T,A,c.(1882-1884)Tcc>Acc,11,333,0,78
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,SNTG1,54212,8,51617199,51617199,Missense_Mutation,SNP,G,A,c.(1078-1080)Gtg>Atg,5,347,0,200
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,NFX1,4799,9,33347678,33347678,Intron,SNP,G,A,,4,118,0,103
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,TRBV21OR9-2,6959,9,33629109,33629109,RNA,SNP,A,C,,11,165,0,109
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,PRUNE2,158471,9,79320290,79320290,Missense_Mutation,SNP,G,C,c.(6898-6900)gaC>gaG,18,244,0,140
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,PRUNE2,158471,9,79322122,79322122,Missense_Mutation,SNP,C,G,c.(5068-5070)Gac>Cac,18,205,0,115
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,CEP78,84131,9,80858433,80858433,Missense_Mutation,SNP,G,T,c.(658-660)aGa>aTa,17,185,0,127
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,HSD17B3,3293,9,99006664,99006664,Missense_Mutation,SNP,C,T,c.(619-621)Gca>Aca,34,515,0,243
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,MUSK,4593,9,113547960,113547960,Silent,SNP,C,T,c.(1738-1740)gaC>gaT,11,112,0,61
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,NUP188,23511,9,131757675,131757675,Missense_Mutation,SNP,A,G,c.(3232-3234)tAt>tGt,6,179,0,74
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,FIBCD1,84929,9,133799177,133799177,Missense_Mutation,SNP,C,A,c.(802-804)gGc>gTc,17,188,0,81
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,TAF3,83860,10,7860725,7860725,Missense_Mutation,SNP,G,C,c.(52-54)tGc>tCc,15,59,1,82
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,CUBN,8029,10,16949577,16949577,Silent,SNP,G,A,c.(7633-7635)gtC>gtT,11,352,0,219
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,PTCHD3,374308,10,27702701,27702701,Missense_Mutation,SNP,G,T,c.(478-480)cCc>cAc,7,73,0,78
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,MKX,283078,10,28007502,28007502,Intron,SNP,C,G,,8,46,0,39
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ANK3,288,10,61841283,61841283,Intron,SNP,A,T,,3,21,0,9
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ENTPD7,57089,10,101458451,101458451,Missense_Mutation,SNP,G,A,c.(1171-1173)Gct>Act,5,503,1,254
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,NEURL,0,10,105330828,105330828,Silent,SNP,C,T,c.(283-285)ttC>ttT,5,174,0,124
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,HRAS,3265,11,533875,533875,Missense_Mutation,SNP,G,T,c.(181-183)Cag>Aag,19,223,0,95
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,OR8K5,219453,11,55927745,55927745,Missense_Mutation,SNP,G,T,c.(49-51)Ctc>Atc,5,138,0,68
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,OR5B12,390191,11,58207307,58207307,Silent,SNP,G,A,c.(316-318)atC>atT,21,317,0,268
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,AHNAK,79026,11,62296224,62296224,Missense_Mutation,SNP,C,A,c.(5665-5667)Gtg>Ttg,9,506,1,221
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,CAPN1,823,11,64973189,64973189,Silent,SNP,G,A,c.(1348-1350)ccG>ccA,4,108,0,58
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,TMEM134,80194,11,67236645,67236645,Nonsense_Mutation,SNP,G,A,c.(19-21)Cag>Tag,8,75,0,47
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,NADSYN1,55191,11,71185653,71185653,Intron,SNP,T,C,,10,240,1,92
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,C2CD3,26005,11,73824884,73824884,Missense_Mutation,SNP,C,A,c.(1783-1785)gGa>gTa,4,129,0,81
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,PAK1,5058,11,77103487,77103487,Missense_Mutation,SNP,C,T,c.(79-81)Ggc>Agc,10,148,0,130
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,NPAT,4863,11,108043193,108043193,Missense_Mutation,SNP,T,G,c.(2518-2520)Aca>Cca,6,99,1,71
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,RDX,5962,11,110124846,110124846,Intron,SNP,G,A,,9,129,0,123
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,SIK3,23387,11,116728517,116728517,Intron,SNP,G,A,,12,134,0,56
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,USP2,9099,11,119227939,119227939,Missense_Mutation,SNP,C,T,c.(1687-1689)cGc>cAc,4,155,0,99
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,Unknown,0,11,124029156,124029156,IGR,SNP,T,C,,16,122,2,97
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,IGSF9B,22997,11,133814232,133814232,Missense_Mutation,SNP,G,C,c.(292-294)Ctg>Gtg,11,275,0,100
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,CDKN1B,1027,12,12871879,12871879,Nonstop_Mutation,SNP,A,C,c.(595-597)tAa>tCa,27,222,0,232
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,TMTC1,83857,12,29757154,29757154,Missense_Mutation,SNP,T,C,c.(1207-1209)Agg>Ggg,28,372,1,180
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,TWF1,5756,12,44199935,44199935,Intron,SNP,G,A,,4,215,0,218
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,FAM186A,121006,12,50745950,50745950,Silent,SNP,G,C,c.(4663-4665)ctC>ctG,5,258,0,116
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,APAF1,317,12,99071221,99071221,Silent,SNP,G,A,c.(1810-1812)acG>acA,29,340,0,233
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,KIAA1033,23325,12,105534965,105534965,Missense_Mutation,SNP,A,C,c.(1726-1728)gaA>gaC,22,245,0,246
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,TRIAP1,51499,12,120884325,120884325,5'Flank,SNP,G,C,,6,38,0,31
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,TMEM120B,144404,12,122208873,122208873,Silent,SNP,G,A,c.(610-612)ctG>ctA,22,267,0,113
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,KCNRG,283518,13,50590153,50590153,Missense_Mutation,SNP,A,C,c.(523-525)gAc>gCc,9,142,0,104
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,DOCK9,23348,13,99449449,99449449,Missense_Mutation,SNP,C,G,c.(6118-6120)Gac>Cac,11,214,0,145
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ARGLU1,55082,13,107211977,107211977,Missense_Mutation,SNP,T,A,c.(376-378)Atc>Ttc,9,136,0,90
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,L3HYPDH,112849,14,59946051,59946051,Missense_Mutation,SNP,G,C,c.(526-528)cCt>cGt,25,345,0,222
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ZFYVE26,23503,14,68274317,68274317,Silent,SNP,G,A,c.(682-684)ccC>ccT,12,185,0,124
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,TRMT61A,115708,14,103999172,103999172,Silent,SNP,C,T,c.(583-585)gcC>gcT,7,104,0,68
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,IGDCC4,57722,15,65678295,65678295,Missense_Mutation,SNP,C,A,c.(3052-3054)ttG>ttT,40,279,0,100
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,MAN2C1,4123,15,75650896,75650896,Silent,SNP,G,A,c.(2308-2310)agC>agT,12,183,0,90
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,RP11-114H24.7,0,15,78211524,78211524,lincRNA,SNP,G,T,,32,498,0,266
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,RP11-752G15.9,0,15,83395427,83395427,RNA,SNP,A,C,,5,118,0,83
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ACAN,176,15,89414779,89414779,Intron,SNP,C,T,,14,146,0,34
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,TRAF7,84231,16,2225325,2225325,Missense_Mutation,SNP,G,C,c.(1408-1410)caG>caC,11,149,0,47
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,LINC00273,649159,16,33962062,33962062,lincRNA,SNP,G,A,,4,58,0,59
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,Unknown,0,16,89299464,89299464,IGR,SNP,C,G,,9,462,1,261
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,GPR179,440435,17,36498909,36498909,Missense_Mutation,SNP,C,A,c.(763-765)gGa>gTa,14,93,0,57
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,GRB7,2886,17,37901203,37901203,Missense_Mutation,SNP,G,A,c.(976-978)cGc>cAc,4,281,0,139
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,SPOP,8405,17,47696644,47696644,Missense_Mutation,SNP,A,C,c.(304-306)Ttc>Gtc,23,270,0,144
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ANKFN1,162282,17,54588389,54588389,Missense_Mutation,SNP,C,T,c.(3208-3210)gCc>gTc,20,277,0,120
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,BCAS3,54828,17,59067363,59067363,Missense_Mutation,SNP,G,T,c.(1252-1254)cGc>cTc,21,203,0,108
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,DNAH17,8632,17,76445585,76445585,Missense_Mutation,SNP,C,T,c.(11107-11109)Gac>Aac,7,149,0,73
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,LPIN2,9663,18,2951197,2951197,Missense_Mutation,SNP,G,A,c.(445-447)cCa>cTa,23,286,0,155
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,MUC16,94025,19,9048386,9048386,Missense_Mutation,SNP,C,T,c.(33244-33246)aGc>aAc,7,137,0,71
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,DKFZP761J1410,0,19,11475212,11475212,Missense_Mutation,SNP,G,T,c.(1129-1131)gGg>gTg,8,51,0,41
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ELL,8178,19,18576372,18576372,Missense_Mutation,SNP,G,A,c.(319-321)Cac>Tac,6,84,0,25
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ZNF676,163223,19,22375807,22375807,Intron,SNP,C,A,,16,186,0,111
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ZNF99,7652,19,22940396,22940396,Missense_Mutation,SNP,T,C,c.(2314-2316)cAt>cGt,6,371,0,336
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,RYR1,6261,19,39075595,39075595,Missense_Mutation,SNP,C,T,c.(14659-14661)Cac>Tac,6,352,0,129
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,FCGBP,8857,19,40421150,40421150,Missense_Mutation,SNP,C,T,c.(2770-2772)cGg>cAg,6,88,0,48
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,TEAD2,8463,19,49846584,49846584,Silent,SNP,G,A,c.(979-981)taC>taT,9,114,0,57
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ZNF347,84671,19,53644313,53644313,Missense_Mutation,SNP,T,C,c.(1768-1770)Att>Gtt,6,152,0,109
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ZNF813,126017,19,53995214,53995214,Missense_Mutation,SNP,G,T,c.(1726-1728)gaG>gaT,5,268,0,210
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,SIRPB1,10326,20,1552398,1552398,Missense_Mutation,SNP,C,T,c.(718-720)cGt>cAt,12,280,0,229
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,GGT7,2686,20,33439147,33439147,Missense_Mutation,SNP,G,A,c.(1612-1614)Cgg>Tgg,4,105,0,73
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,SULF2,55959,20,46365603,46365603,Missense_Mutation,SNP,T,C,c.(259-261)Atg>Gtg,104,359,0,253
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ZNF831,128611,20,57767405,57767405,Missense_Mutation,SNP,C,T,c.(1330-1332)aCg>aTg,17,109,0,62
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,GMEB2,26205,20,62226964,62226964,Splice_Site,SNP,G,T,c.(616-618)gaC>gaA,17,165,0,59
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ADAMTS1,9510,21,28210575,28210575,Missense_Mutation,SNP,T,A,c.(2227-2229)Aca>Tca,6,71,0,32
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,OLIG1,116448,21,34443323,34443323,Silent,SNP,G,T,c.(769-771)ccG>ccT,5,132,0,106
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,TRPM2,7226,21,45860741,45860741,Missense_Mutation,SNP,G,A,c.(4339-4341)Gtc>Atc,14,267,0,114
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,ITGB2,3689,21,46327909,46327909,Intron,SNP,G,A,,30,137,0,42
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,LSS,4047,21,47614428,47614428,Silent,SNP,G,A,c.(1963-1965)gcC>gcT,9,313,0,149
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,MYH9,4627,22,36697630,36697630,Nonsense_Mutation,SNP,G,A,c.(2581-2583)Cag>Tag,11,383,1,188
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,LAMP2,3920,X,119582940,119582940,Silent,SNP,C,T,c.(439-441)ttG>ttA,7,61,0,52
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,DCAF12L2,340578,X,125298898,125298898,Missense_Mutation,SNP,C,T,c.(1009-1011)cGc>cAc,23,122,0,69
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,RAB25,57111,1,156039874,156039874,Intron,DEL,T,-,,14,100,,
RP-1532_PCProject_0172_BLOOD_P_v1_Exome_OnPrem,Unknown,0,3,87100704,87100709,IGR,DEL,TGGTAT,-,,4,176,,
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,MIB2,142678,1,1562052,1562052,Missense_Mutation,SNP,A,C,c.(1168-1170)gAc>gCc,14,53,0,13
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,CLCNKA,1187,1,16355749,16355749,Silent,SNP,G,A,c.(1180-1182)ccG>ccA,12,297,0,154
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,CRCT1,54544,1,152488135,152488135,Missense_Mutation,SNP,C,G,c.(274-276)agC>agG,12,133,0,40
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,XPR1,9213,1,180772532,180772532,Missense_Mutation,SNP,G,A,c.(232-234)Gca>Aca,8,177,0,83
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,C1orf106,55765,1,200881026,200881026,Missense_Mutation,SNP,C,T,c.(1660-1662)Cgc>Tgc,13,160,0,126
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,IBA57,200205,1,228362392,228362392,Splice_Site,SNP,G,T,c.e2-1,3,57,0,22
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,OBSCN,84033,1,228482515,228482515,Missense_Mutation,SNP,C,A,c.(11428-11430)aaC>aaA,5,286,0,110
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,PLEKHH2,130271,2,43953569,43953569,Silent,SNP,A,C,c.(2698-2700)ctA>ctC,4,336,0,154
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,ANKRD36,375248,2,97784132,97784132,Missense_Mutation,SNP,G,A,c.(364-366)Gcc>Acc,6,137,0,108
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,PCDP1,0,2,120362787,120362787,Missense_Mutation,SNP,C,T,c.(1054-1056)aCg>aTg,5,94,0,72
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,HS6ST1,9394,2,129026297,129026297,Silent,SNP,G,A,c.(673-675)taC>taT,12,741,1,453
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,DOCK10,55619,2,225659771,225659771,Missense_Mutation,SNP,C,T,c.(4978-4980)cGt>cAt,7,303,0,153
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,CAPN10,11132,2,241533446,241533446,Missense_Mutation,SNP,A,T,c.(811-813)cAg>cTg,3,49,0,31
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,ZMYND10,51364,3,50379924,50379924,Silent,SNP,G,A,c.(775-777)gaC>gaT,4,180,0,122
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,CASR,846,3,121980565,121980565,Missense_Mutation,SNP,A,C,c.(682-684)gAg>gCg,7,323,0,131
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,SLCO2A1,6578,3,133673820,133673820,Silent,SNP,G,A,c.(613-615)ccC>ccT,5,183,0,64
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,PCCB,5096,3,136048860,136048860,Missense_Mutation,SNP,C,T,c.(1612-1614)Cca>Tca,14,375,1,158
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,MED12L,116931,3,151129234,151129234,Missense_Mutation,SNP,C,G,c.(5974-5976)Ccg>Gcg,7,381,0,211
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,IGSF10,285313,3,151163208,151163208,Missense_Mutation,SNP,C,G,c.(4561-4563)Gag>Cag,10,185,0,120
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,IGSF10,285313,3,151166091,151166091,Missense_Mutation,SNP,C,G,c.(1678-1680)Gat>Cat,9,157,0,65
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,SERPINI2,5276,3,167196731,167196731,De_novo_Start_InFrame,SNP,G,C,,4,229,0,157
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,SCFD2,152579,4,53751949,53751949,Nonsense_Mutation,SNP,T,A,c.(1927-1929)Aaa>Taa,7,245,0,104
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,USP53,54532,4,120212314,120212314,Intron,SNP,C,A,,6,15,1,33
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,VCAN,1462,5,82876219,82876219,Missense_Mutation,SNP,G,A,c.(10156-10158)cGt>cAt,46,481,0,312
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,FTMT,94033,5,121187808,121187808,Silent,SNP,C,T,c.(148-150)gcC>gcT,9,70,0,78
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,ADAMTS19,171019,5,128797275,128797275,Missense_Mutation,SNP,G,A,c.(553-555)cGc>cAc,10,153,0,132
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,PCDH1,5097,5,141243306,141243306,Missense_Mutation,SNP,C,T,c.(2590-2592)Gtg>Atg,5,272,0,93
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,LARS,51520,5,145551516,145551516,Missense_Mutation,SNP,C,G,c.(250-252)tGt>tCt,6,169,0,157
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,TCOF1,6949,5,149759149,149759149,Missense_Mutation,SNP,G,A,c.(2713-2715)Gag>Aag,21,788,0,295
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,TIMD4,91937,5,156381518,156381518,Missense_Mutation,SNP,C,A,c.(307-309)aGt>aTt,12,261,1,196
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,HIST1H2BI,8346,6,26273466,26273466,Missense_Mutation,SNP,C,G,c.(262-264)tCg>tGg,4,199,1,210
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,BTN1A1,696,6,26501572,26501572,Nonsense_Mutation,SNP,C,T,c.(58-60)Cag>Tag,7,298,0,214
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,CRISP3,10321,6,49704205,49704205,Missense_Mutation,SNP,C,A,c.(88-90)Gct>Tct,6,223,0,194
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,GABRR2,2570,6,89981422,89981422,Silent,SNP,G,A,c.(238-240)ggC>ggT,8,192,0,137
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,FAM184A,79632,6,119346619,119346619,Intron,SNP,G,A,,5,142,0,118
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,LAMA2,3908,6,129835556,129835556,Silent,SNP,T,A,c.(9025-9027)acT>acA,11,382,0,271
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,SLC35D3,340146,6,137243625,137243625,Missense_Mutation,SNP,T,A,c.(58-60)gTc>gAc,14,97,1,99
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,SYNE1,23345,6,152621865,152621865,Missense_Mutation,SNP,C,A,c.(17593-17595)Ggg>Tgg,19,460,0,281
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,MLXIPL,51085,7,73011609,73011609,Silent,SNP,T,C,c.(1504-1506)ggA>ggG,19,147,0,36
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,PCLO,27445,7,82478246,82478246,Intron,SNP,C,T,,3,40,0,21
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,C7orf43,55262,7,99755321,99755321,Missense_Mutation,SNP,C,T,c.(571-573)cGa>cAa,6,243,0,140
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,SLC26A5,375611,7,103051944,103051944,Missense_Mutation,SNP,T,G,c.(493-495)Acc>Ccc,15,394,1,160
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,PNPLA8,50640,7,108142938,108142938,Missense_Mutation,SNP,G,T,c.(1354-1356)aCa>aAa,16,86,0,68
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,GIMAP6,474344,7,150327203,150327203,Missense_Mutation,SNP,G,A,c.(28-30)Ccc>Tcc,23,135,1,94
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,GIMAP6,474344,7,150327218,150327218,Missense_Mutation,SNP,C,T,c.(13-15)Gaa>Aaa,20,129,1,76
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,ASIC3,9311,7,150748357,150748357,Missense_Mutation,SNP,G,A,c.(1165-1167)Gcc>Acc,5,182,0,128
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,KMT2C,58508,7,151876977,151876977,Nonsense_Mutation,SNP,G,A,c.(7384-7386)Cag>Tag,18,574,0,307
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,KMT2C,58508,7,151877191,151877191,Missense_Mutation,SNP,G,C,c.(7168-7170)atC>atG,7,280,0,199
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,KMT2C,58508,7,151877935,151877935,Missense_Mutation,SNP,G,T,c.(7009-7011)tCt>tAt,5,267,0,136
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,KMT2C,58508,7,151877972,151877972,Nonsense_Mutation,SNP,G,A,c.(6973-6975)Cag>Tag,7,245,0,118
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,KMT2C,58508,7,151878809,151878809,Missense_Mutation,SNP,G,A,c.(6136-6138)Cca>Tca,6,207,0,98
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,KMT2C,58508,7,151879016,151879016,Nonsense_Mutation,SNP,G,A,c.(5929-5931)Caa>Taa,5,263,0,138
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,KMT2C,58508,7,151879084,151879084,Missense_Mutation,SNP,G,A,c.(5860-5862)tCt>tTt,5,218,0,147
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,KMT2C,58508,7,151879105,151879105,Missense_Mutation,SNP,G,A,c.(5839-5841)tCc>tTc,6,199,0,117
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,PSKH2,85481,8,87060931,87060931,Silent,SNP,A,G,c.(916-918)ggT>ggC,10,449,0,125
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,MMP16,4325,8,89198771,89198771,Missense_Mutation,SNP,A,T,c.(337-339)tTt>tAt,11,159,1,135
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,CNTLN,54875,9,17342402,17342402,Missense_Mutation,SNP,G,A,c.(1846-1848)Gca>Aca,4,197,0,113
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,ADAMTSL1,92949,9,18657714,18657714,Silent,SNP,G,C,c.(910-912)acG>acC,8,241,0,133
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,ADAMTSL1,92949,9,18657715,18657715,Missense_Mutation,SNP,G,C,c.(913-915)Gat>Cat,8,240,0,133
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,LRRC26,389816,9,140063522,140063522,Silent,SNP,G,T,c.(787-789)gcC>gcA,4,139,0,101
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,DKFZP667F0711,0,10,6392356,6392356,Missense_Mutation,SNP,C,G,c.(76-78)gCc>gGc,5,230,0,113
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,KIAA1217,56243,10,24669920,24669920,Silent,SNP,T,C,c.(475-477)ccT>ccC,4,76,0,28
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,OTOG,340990,11,17618536,17618536,Nonsense_Mutation,SNP,C,T,c.(3700-3702)Cga>Tga,7,163,0,57
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,BCO2,83875,11,112050149,112050149,Nonsense_Mutation,SNP,G,A,c.(235-237)tgG>tgA,8,214,1,178
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,ZBTB16,7704,11,114027065,114027065,Silent,SNP,G,A,c.(1273-1275)ctG>ctA,5,311,0,204
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,ADCY6,112,12,49176820,49176820,Missense_Mutation,SNP,G,C,c.(397-399)tCg>tGg,11,169,0,112
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,PLXNC1,10154,12,94562988,94562988,Silent,SNP,C,T,c.(1120-1122)tcC>tcT,18,294,0,142
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,NDUFA12,55967,12,95365396,95365396,Splice_Site,SNP,C,A,c.(256-258)tgG>tgT,11,307,1,209
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,PAH,5053,12,103245487,103245487,Missense_Mutation,SNP,C,T,c.(889-891)cGc>cAc,10,381,0,190
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,ANHX,647589,12,133810713,133810713,Missense_Mutation,SNP,G,A,c.(229-231)gCg>gTg,5,283,0,129
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,KIAA0586,9786,14,58906807,58906807,Intron,SNP,G,T,,15,93,1,73
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,C14orf159,80017,14,91686983,91686983,Intron,SNP,T,A,,17,487,0,187
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,C14orf132,56967,14,96556957,96556957,Missense_Mutation,SNP,A,C,c.(76-78)Ata>Cta,6,231,0,107
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,IGDCC4,57722,15,65678285,65678285,Missense_Mutation,SNP,C,A,c.(3064-3066)Gtg>Ttg,30,283,0,110
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,DNAH3,55567,16,21136642,21136642,Missense_Mutation,SNP,T,A,c.(1258-1260)Att>Ttt,6,69,0,34
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,ITGAD,3681,16,31429419,31429419,Silent,SNP,G,T,c.(2521-2523)ctG>ctT,7,169,0,103
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,RP11-324D17.1,0,16,54279717,54279717,Intron,SNP,G,A,,6,118,0,56
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,PLEKHG4,25894,16,67320682,67320682,Nonsense_Mutation,SNP,C,T,c.(2785-2787)Cga>Tga,28,489,0,252
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,SLC12A4,6560,16,67985077,67985077,Silent,SNP,G,A,c.(1261-1263)acC>acT,10,132,0,81
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,NQO1,1728,16,69741106,69741106,IGR,SNP,T,G,,16,37,0,45
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,CCDC42,146849,17,8638403,8638403,Intron,SNP,C,T,,6,243,0,52
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,MYH13,8735,17,10248937,10248937,Intron,SNP,G,A,,5,185,0,134
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,CDC27,996,17,45198376,45198376,Silent,SNP,T,A,c.(2398-2400)acA>acT,10,167,0,134
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,HOXB3,3213,17,46628308,46628308,Silent,SNP,G,A,c.(682-684)agC>agT,9,182,0,100
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,ABCA10,10349,17,67146127,67146127,Missense_Mutation,SNP,G,A,c.(4474-4476)gCg>gTg,4,138,0,96
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,Unknown,0,18,11609800,11609800,IGR,SNP,C,T,,10,466,0,312
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,NDUFS7,374291,19,1383786,1383786,5'UTR,SNP,G,A,,11,275,0,294
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,NDUFS7,374291,19,1383787,1383787,De_novo_Start_OutOfFrame,SNP,A,T,,11,258,0,297
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,C3,718,19,6677911,6677911,Silent,SNP,G,C,c.(4972-4974)gtC>gtG,7,308,0,138
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,TECR,9524,19,14674889,14674889,Silent,SNP,C,G,c.(361-363)tcC>tcG,18,560,1,275
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,OR10H1,26539,19,15918199,15918199,Missense_Mutation,SNP,G,A,c.(649-651)Ctc>Ttc,9,391,0,279
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,MYO9B,4650,19,17278772,17278772,Missense_Mutation,SNP,G,A,c.(1690-1692)gGg>gAg,10,195,0,94
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,NCAN,1463,19,19359700,19359700,Intron,SNP,C,T,,7,127,0,54
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,RYR1,6261,19,38993220,38993220,Missense_Mutation,SNP,C,T,c.(7687-7689)aCc>aTc,13,443,0,209
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,SIGLEC8,27181,19,51961269,51961269,Missense_Mutation,SNP,G,A,c.(373-375)Cgg>Tgg,21,389,0,208
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,LILRB3,11025,19,54721304,54721304,Missense_Mutation,SNP,G,C,c.(1633-1635)Ccg>Gcg,7,424,1,245
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,LILRA6,79168,19,54746154,54746154,Missense_Mutation,SNP,G,T,c.(103-105)Cca>Aca,9,746,0,442
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,KIAA1755,85449,20,36856602,36856602,Missense_Mutation,SNP,C,T,c.(1912-1914)Gcc>Acc,9,173,0,77
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,APP,351,21,27372396,27372396,Missense_Mutation,SNP,C,T,c.(967-969)Gga>Aga,25,491,0,310
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,IGLV3-10,28803,22,23154514,23154514,RNA,SNP,C,T,,24,379,0,252
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,DCAF8L2,347442,X,27765728,27765728,Missense_Mutation,SNP,G,A,c.(715-717)cGt>cAt,14,114,0,57
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,SRPX,8406,X,38024015,38024015,Intron,SNP,C,T,,4,49,0,43
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,PFKFB1,5207,X,54964163,54964163,Intron,SNP,C,T,,5,94,1,48
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,ESX1,80712,X,103499120,103499120,Missense_Mutation,SNP,C,T,c.(220-222)cGt>cAt,23,255,0,174
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,SLC25A5,292,X,118603728,118603728,Silent,SNP,C,G,c.(214-216)cgC>cgG,5,70,0,74
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,OCRL,4952,X,128710468,128710468,Missense_Mutation,SNP,A,T,c.(2053-2055)gAg>gTg,5,116,1,59
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,MCF2,4168,X,138708413,138708413,Missense_Mutation,SNP,T,G,c.(625-627)aAa>aCa,4,28,0,28
RP-1532_PCProject_0203_BLOOD_P_v1_Exome_OnPrem,IRF6,3664,1,209968671,209968676,In_Frame_Del,DEL,GAACAT,-,c.(466-474)catgttccc>ccc,12,558,,
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,ABCD3,5825,1,94956787,94956787,Missense_Mutation,SNP,G,A,c.(1369-1371)cGa>cAa,4,87,0,132
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,KCNA3,3738,1,111216578,111216578,Missense_Mutation,SNP,C,T,c.(853-855)cGc>cAc,8,179,0,108
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,MTMR11,10903,1,149906114,149906114,Missense_Mutation,SNP,G,A,c.(652-654)aCg>aTg,7,341,0,141
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,NES,10763,1,156642694,156642694,Missense_Mutation,SNP,C,T,c.(1285-1287)cGg>cAg,5,285,0,166
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,CCDC19,0,1,159846360,159846360,Silent,SNP,G,A,c.(1336-1338)ttC>ttT,33,232,0,138
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,PAPPA2,60676,1,176740120,176740120,Missense_Mutation,SNP,A,C,c.(4519-4521)Aca>Cca,7,205,0,172
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,OR2B11,127623,1,247615245,247615245,Nonsense_Mutation,SNP,T,A,c.(40-42)Aaa>Taa,9,365,0,120
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,CYP1B1,1545,2,38301666,38301666,Missense_Mutation,SNP,G,T,c.(865-867)cCc>cAc,9,305,0,236
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,TTN,7273,2,179604645,179604645,Missense_Mutation,SNP,T,A,c.(12364-12366)Atc>Ttc,36,310,0,235
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,FZD7,8324,2,202900561,202900561,Silent,SNP,G,A,c.(1189-1191)ctG>ctA,29,325,0,192
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,COL6A3,1293,2,238255157,238255157,Missense_Mutation,SNP,G,T,c.(7081-7083)Cca>Aca,6,385,0,220
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,KIF9,64147,3,47318830,47318830,Missense_Mutation,SNP,C,A,c.(34-36)cGt>cTt,6,63,0,67
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,TNIK,23043,3,170784087,170784087,Silent,SNP,G,T,c.(3886-3888)ggC>ggA,7,145,0,111
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,CCDC39,339829,3,180366007,180366007,Missense_Mutation,SNP,C,A,c.(1306-1308)caG>caT,5,71,0,68
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,ATP13A5,344905,3,193002835,193002835,Missense_Mutation,SNP,C,A,c.(3094-3096)Gca>Tca,7,161,0,89
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,RP11-1396O13.13,0,4,9386081,9386081,Missense_Mutation,SNP,C,G,c.(562-564)aGa>aCa,10,290,0,217
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,RP11-1396O13.13,0,4,9386106,9386106,Missense_Mutation,SNP,C,G,c.(538-540)Gcc>Ccc,7,221,0,184
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,ZNF518B,85460,4,10446822,10446822,Missense_Mutation,SNP,A,T,c.(1129-1131)gaT>gaA,12,185,0,171
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,Unknown,0,4,15737744,15737744,IGR,SNP,C,T,,5,173,0,80
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,ALPK1,80216,4,113353495,113353495,Missense_Mutation,SNP,G,C,c.(2791-2793)tGg>tCg,14,225,0,134
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,TMEM144,55314,4,159165464,159165464,Missense_Mutation,SNP,C,A,c.(916-918)gCt>gAt,5,123,0,108
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,DDX60L,91351,4,169305755,169305755,Intron,SNP,C,T,,14,200,0,131
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,CDH9,1007,5,26889938,26889938,Intron,SNP,T,C,,10,57,0,49
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,NR2F1,7025,5,92923796,92923796,Missense_Mutation,SNP,A,C,c.(637-639)Att>Ctt,10,219,0,169
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,YIPF5,81555,5,143545145,143545145,Missense_Mutation,SNP,G,A,c.(133-135)tCg>tTg,13,196,0,116
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,FAM71B,153745,5,156592618,156592618,Missense_Mutation,SNP,G,A,c.(562-564)Ctt>Ttt,12,113,0,73
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,ANKS1A,23294,6,34949727,34949727,Silent,SNP,G,A,c.(694-696)caG>caA,19,133,0,127
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,GTPBP2,54676,6,43592765,43592765,Missense_Mutation,SNP,T,C,c.(739-741)gAg>gGg,14,113,0,84
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,POLR2J4,84820,7,44005973,44005973,RNA,SNP,G,T,,22,355,0,247
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,AUTS2,26053,7,70250407,70250407,Intron,SNP,G,A,,9,208,0,107
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,MLXIPL,51085,7,73011609,73011609,Silent,SNP,T,C,c.(1504-1506)ggA>ggG,16,114,1,44
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,CD36,948,7,80292408,80292408,Silent,SNP,C,T,c.(532-534)Ctg>Ttg,6,198,0,123
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,DLX5,1749,7,96653663,96653663,Silent,SNP,A,T,c.(271-273)gcT>gcA,30,173,0,122
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,PIK3CG,5294,7,106509886,106509886,Missense_Mutation,SNP,C,A,c.(1879-1881)aCa>aAa,35,129,0,133
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,CALD1,800,7,134635159,134635159,Missense_Mutation,SNP,G,A,c.(1828-1830)aGg>aAg,8,136,0,89
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,HIPK2,28996,7,139288873,139288873,Missense_Mutation,SNP,C,T,c.(2209-2211)Gtg>Atg,16,270,0,133
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,ATP6V0E2,155066,7,149571190,149571190,Missense_Mutation,SNP,C,G,c.(34-36)atC>atG,6,348,0,225
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,CHPF2,54480,7,150932460,150932460,Missense_Mutation,SNP,G,A,c.(589-591)gGc>gAc,7,427,0,261
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,CSMD1,64478,8,3000071,3000071,Missense_Mutation,SNP,G,T,c.(6160-6162)Ctg>Atg,15,347,0,317
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,RNF19A,25897,8,101272189,101272189,Nonsense_Mutation,SNP,G,T,c.(1717-1719)taC>taA,10,157,0,124
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,KCNV1,27012,8,110984899,110984899,Silent,SNP,G,T,c.(577-579)cgC>cgA,29,534,0,200
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,SLC45A4,57210,8,142228557,142228557,Silent,SNP,G,T,c.(1027-1029)gcC>gcA,38,422,0,219
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,CYP11B2,1585,8,143993467,143993467,Missense_Mutation,SNP,T,G,c.(1441-1443)Ata>Cta,15,279,0,173
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,ZNF169,169841,9,97062611,97062611,Silent,SNP,C,T,c.(769-771)acC>acT,5,249,0,159
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,CIZ1,25792,9,130938663,130938663,Missense_Mutation,SNP,G,T,c.(1909-1911)cCc>cAc,10,275,0,128
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,NOTCH1,4851,9,139396829,139396829,Missense_Mutation,SNP,C,T,c.(5278-5280)cGc>cAc,20,264,0,126
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,PNPLA7,375775,9,140437151,140437151,Silent,SNP,C,T,c.(532-534)ccG>ccA,12,168,0,117
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,TUBAL3,79861,10,5436298,5436298,Nonsense_Mutation,SNP,C,A,c.(523-525)Gag>Tag,10,235,0,154
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,SFMBT2,57713,10,7214009,7214009,Missense_Mutation,SNP,C,T,c.(2263-2265)Gcc>Acc,11,202,0,107
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,MYO3A,53904,10,26417436,26417436,Missense_Mutation,SNP,A,T,c.(2230-2232)tAt>tTt,13,134,0,105
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,CTNNA3,29119,10,68940170,68940170,Missense_Mutation,SNP,A,G,c.(952-954)Tca>Cca,34,375,0,243
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,KAT6B,23522,10,76789315,76789315,Missense_Mutation,SNP,C,G,c.(4732-4734)gCa>gGa,16,401,0,259
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,COL17A1,1308,10,105794509,105794509,Silent,SNP,G,A,c.(3634-3636)ttC>ttT,15,263,0,152
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,AMPD3,272,11,10514940,10514940,Missense_Mutation,SNP,T,A,c.(1009-1011)caT>caA,12,405,0,284
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,QSER1,79832,11,32953709,32953709,Missense_Mutation,SNP,G,T,c.(517-519)aGt>aTt,7,244,1,137
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,C11orf91,100131378,11,33722046,33722046,Missense_Mutation,SNP,C,G,c.(241-243)Ggc>Cgc,8,35,1,28
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,OR4D10,390197,11,59245135,59245135,Missense_Mutation,SNP,T,C,c.(232-234)gTg>gCg,6,172,0,87
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,EHBP1L1,254102,11,65352968,65352968,Missense_Mutation,SNP,C,T,c.(3838-3840)gCg>gTg,13,463,0,392
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,MYO7A,4647,11,76922197,76922197,Splice_Site,SNP,G,C,c.(6052-6054)Gag>Cag,9,129,0,36
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,SOX5,6660,12,23716207,23716207,Missense_Mutation,SNP,G,C,c.(1471-1473)aaC>aaG,6,153,0,98
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,SOX5,6660,12,24048766,24048766,Silent,SNP,A,T,c.(229-231)acT>acA,6,276,0,169
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,SCN8A,6334,12,52156367,52156367,Nonsense_Mutation,SNP,G,A,c.(2449-2451)tgG>tgA,14,209,0,156
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,KRT86,3892,12,52702300,52702300,Silent,SNP,G,T,c.(1390-1392)gtG>gtT,11,319,0,172
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,CSAD,51380,12,53555125,53555125,Missense_Mutation,SNP,C,G,c.(751-753)Ggg>Cgg,11,191,0,97
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,ITGA5,3678,12,54801967,54801967,Missense_Mutation,SNP,C,A,c.(742-744)gaG>gaT,11,170,0,117
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,MARS,4141,12,57906727,57906727,Silent,SNP,C,T,c.(1945-1947)aaC>aaT,10,285,0,117
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,CAMKK2,10645,12,121706441,121706441,Splice_Site,SNP,G,C,c.(625-627)Cgt>Ggt,15,241,0,162
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,DDX55,57696,12,124090418,124090418,Intron,SNP,G,A,,9,363,0,199
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,GPC5,2262,13,92380835,92380835,Missense_Mutation,SNP,G,A,c.(1069-1071)cGt>cAt,13,210,0,169
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,NALCN,259232,13,101833493,101833493,Intron,SNP,A,T,,8,277,0,220
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,RPP25,54913,15,75248378,75248378,Missense_Mutation,SNP,C,T,c.(547-549)Gcg>Acg,22,297,0,175
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,NTRK3,4916,15,88726655,88726655,Missense_Mutation,SNP,C,T,c.(388-390)cGt>cAt,21,381,0,168
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,PDIA2,64714,16,335675,335675,Missense_Mutation,SNP,G,A,c.(1090-1092)tGc>tAc,21,396,0,219
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,TSC2,7249,16,2121863,2121863,Silent,SNP,A,G,c.(2023-2025)gcA>gcG,22,189,2,97
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,ADCY9,115,16,4164562,4164562,Silent,SNP,G,A,c.(880-882)atC>atT,58,428,0,174
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,12-Sep,124404,16,4833769,4833769,Splice_Site,SNP,T,A,c.e6-2,4,219,0,84
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,C16orf70,80262,16,67184222,67184222,IGR,SNP,A,C,,5,23,0,22
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,SPATA33,124045,16,89735806,89735806,Missense_Mutation,SNP,C,G,c.(319-321)gaC>gaG,6,415,0,241
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,RPA1,6117,17,1778999,1778999,Missense_Mutation,SNP,A,G,c.(499-501)Aaa>Gaa,5,138,0,91
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,RAB11FIP4,84440,17,29850903,29850903,Intron,SNP,T,C,,9,75,1,64
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,GAS2L2,246176,17,34072548,34072548,Missense_Mutation,SNP,T,A,c.(1966-1968)caA>caT,7,149,0,50
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,CCBE1,147372,18,57122276,57122276,Intron,SNP,A,G,,22,244,0,162
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,RGL3,57139,19,11515826,11515826,Silent,SNP,G,A,c.(1180-1182)ttC>ttT,7,115,0,90
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,NDUFA13,51079,19,19638169,19638169,Intron,SNP,C,T,,26,449,0,270
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,LGI4,163175,19,35622165,35622165,Intron,SNP,G,C,,8,268,0,89
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,ZNF221,7638,19,44470188,44470188,Silent,SNP,C,A,c.(532-534)tcC>tcA,5,131,0,89
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,PPP1R15A,23645,19,49376523,49376523,Silent,SNP,C,G,c.(31-33)acC>acG,6,31,0,15
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,ZNF628,89887,19,55993531,55993531,Missense_Mutation,SNP,A,G,c.(970-972)cAg>cGg,37,306,0,214
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,ZNF579,163033,19,56089418,56089418,Missense_Mutation,SNP,C,T,c.(1588-1590)Gcc>Acc,7,237,0,150
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,ZNF543,125919,19,57835113,57835113,Missense_Mutation,SNP,G,T,c.(82-84)Gca>Tca,5,329,0,158
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,SEC23B,10483,20,18505244,18505244,Silent,SNP,A,C,c.(532-534)ctA>ctC,44,447,0,354
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,CDH22,64405,20,44838982,44838982,Missense_Mutation,SNP,G,A,c.(1249-1251)aCg>aTg,7,109,0,94
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,ARFGEF2,10564,20,47602007,47602007,Silent,SNP,C,T,c.(2131-2133)taC>taT,6,429,0,415
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,NRIP1,8204,21,16337477,16337477,Missense_Mutation,SNP,T,C,c.(3037-3039)Act>Gct,13,207,0,123
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,KCNE2,9992,21,35743057,35743057,Missense_Mutation,SNP,G,A,c.(280-282)Gaa>Aaa,21,154,0,89
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,AIRE,326,21,45711081,45711081,Missense_Mutation,SNP,G,A,c.(982-984)cGg>cAg,4,263,0,193
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,ADSL,158,22,40742640,40742640,Missense_Mutation,SNP,G,C,c.(76-78)atG>atC,5,238,0,246
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,MAPK8IP2,23542,22,51042134,51042134,Missense_Mutation,SNP,C,T,c.(526-528)cCg>cTg,9,199,0,100
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,HDHD1,8226,X,7023735,7023735,Missense_Mutation,SNP,A,C,c.(205-207)aTg>aGg,31,112,0,59
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,IQSEC2,23096,X,53264072,53264072,Missense_Mutation,SNP,C,T,c.(3766-3768)Gcc>Acc,5,46,0,38
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,POF1B,79983,X,84569462,84569462,Missense_Mutation,SNP,T,A,c.(931-933)aaA>aaT,3,32,0,38
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,PLCL1,5334,2,198950457,198950457,Frame_Shift_Del,DEL,C,-,c.(2215-2217)gctfs,13,120,,
RP-1532_PCProject_0207_BLOOD_2_P_v3_Exome_OnPrem,PSD,5662,10,104176164,104176170,Frame_Shift_Del,DEL,GCAGGTC,-,c.(625-633)ggacctgctfs,12,267,,
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,F5,2153,1,169524553,169524553,Missense_Mutation,SNP,A,G,c.(985-987)Tgc>Cgc,23,431,1,319
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ABL2,27,1,179198374,179198374,Splice_Site,SNP,A,C,c.e1+1,7,50,1,96
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,HMCN1,83872,1,186158885,186158885,Nonsense_Mutation,SNP,C,T,c.(16783-16785)Cga>Tga,6,59,1,65
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,GCKR,2646,2,27729704,27729704,Missense_Mutation,SNP,A,T,c.(1018-1020)Atc>Ttc,32,367,0,337
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,REV1,51455,2,100058768,100058768,Intron,SNP,G,A,,11,62,1,71
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,NMUR1,10316,2,232393024,232393024,Silent,SNP,C,T,c.(706-708)gcG>gcA,8,79,0,44
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,AC131097.3,0,2,242946302,242946302,RNA,SNP,A,G,,8,592,0,450
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,DNAH1,25981,3,52395742,52395742,Missense_Mutation,SNP,C,T,c.(4939-4941)gCg>gTg,12,155,0,104
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,LRRC34,151827,3,169525500,169525500,Intron,SNP,G,T,,8,26,1,47
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,FETUB,26998,3,186358480,186358480,Intron,SNP,T,C,,9,174,0,123
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,EPHA5,2044,4,66217113,66217113,Silent,SNP,G,A,c.(2500-2502)acC>acT,8,104,0,95
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,SPEF2,79925,5,35649489,35649489,Silent,SNP,C,T,c.(751-753)ttC>ttT,7,113,0,93
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,UGT3A1,133688,5,35965633,35965633,Missense_Mutation,SNP,G,A,c.(697-699)tCt>tTt,35,380,0,250
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,FBXL17,64839,5,107716954,107716954,Missense_Mutation,SNP,C,T,c.(439-441)Gct>Act,3,27,0,66
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,DST,667,6,56394898,56394898,Silent,SNP,T,G,c.(16507-16509)gcA>gcC,16,84,2,60
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,BEND3,57673,6,107392126,107392126,Missense_Mutation,SNP,T,C,c.(268-270)gAg>gGg,8,93,0,57
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,WTAP,9589,6,160176087,160176087,Missense_Mutation,SNP,A,T,c.(634-636)gAt>gTt,9,100,0,65
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,PACRG,135138,6,163587153,163587153,Intron,SNP,C,T,,16,247,0,177
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ZNF716,441234,7,57529048,57529048,Missense_Mutation,SNP,A,G,c.(880-882)aAa>aGa,4,292,0,131
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ZNF680,340252,7,63982032,63982032,Missense_Mutation,SNP,C,T,c.(1099-1101)aGa>aAa,7,219,0,123
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,BRAF,673,7,140481402,140481402,Missense_Mutation,SNP,C,G,c.(1405-1407)gGa>gCa,51,531,0,317
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,SHH,6469,7,155596223,155596223,Missense_Mutation,SNP,C,T,c.(760-762)Gtg>Atg,30,328,0,269
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,FRMPD1,22844,9,37740634,37740634,Silent,SNP,C,T,c.(2107-2109)caC>caT,22,396,0,218
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,TSC1,7248,9,135780990,135780990,Missense_Mutation,SNP,C,A,c.(1975-1977)Gcg>Tcg,27,275,1,225
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,SEC16A,9919,9,139342776,139342776,Missense_Mutation,SNP,A,G,c.(256-258)Tgt>Cgt,10,606,0,365
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,SEC16A,9919,9,139342807,139342807,Silent,SNP,C,T,c.(223-225)ctG>ctA,7,437,0,295
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ANAPC2,29882,9,140069862,140069862,Missense_Mutation,SNP,G,A,c.(2083-2085)Cgg>Tgg,5,205,0,115
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,GTPBP4,23560,10,1045036,1045036,Splice_Site,SNP,G,T,c.e6+1,12,123,0,133
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,BEND7,222389,10,13538897,13538897,Intron,SNP,G,A,,12,107,1,105
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ANKRD30A,91074,10,37506784,37506784,Missense_Mutation,SNP,G,C,c.(3076-3078)aGt>aCt,8,88,0,70
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,PCDH15,65217,10,56077050,56077050,Missense_Mutation,SNP,A,G,c.(856-858)aTa>aCa,5,254,1,271
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ZCCHC24,219654,10,81154193,81154193,Missense_Mutation,SNP,G,A,c.(451-453)Cgc>Tgc,9,96,0,41
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,CDHR1,92211,10,85956346,85956346,Silent,SNP,C,T,c.(235-237)agC>agT,7,684,0,442
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,CTC-497E21.3,0,11,13031444,13031444,lincRNA,SNP,G,A,,12,108,0,87
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,LRRN4CL,221091,11,62455907,62455907,Missense_Mutation,SNP,G,C,c.(73-75)cCt>cGt,9,148,0,118
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,SUV420H1,51111,11,67946949,67946949,Intron,SNP,C,A,,7,178,0,140
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,NADSYN1,55191,11,71185653,71185653,Intron,SNP,T,C,,7,185,0,125
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,FAT3,120114,11,92292587,92292587,Intron,SNP,G,T,,6,42,0,27
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,HEPHL1,341208,11,93844188,93844188,Silent,SNP,C,T,c.(3163-3165)atC>atT,9,90,0,67
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,AKAP3,10566,12,4737164,4737164,Missense_Mutation,SNP,T,C,c.(904-906)Aag>Gag,10,200,0,200
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ANO6,196527,12,45833472,45833472,Missense_Mutation,SNP,G,T,c.(2539-2541)ttG>ttT,8,44,1,56
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,DDN,23109,12,49392274,49392274,Missense_Mutation,SNP,T,C,c.(385-387)Agg>Ggg,4,60,0,57
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,KRT74,121391,12,52964524,52964524,Nonsense_Mutation,SNP,C,A,c.(937-939)Gag>Tag,8,413,0,225
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,TMEM132D,121256,12,130015750,130015750,Splice_Site,SNP,C,G,c.(967-969)agG>agC,4,87,0,15
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ULK1,8408,12,132396510,132396510,Silent,SNP,G,A,c.(970-972)ctG>ctA,5,448,0,256
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,GALNT9,50614,12,132839220,132839220,Intron,SNP,A,G,,4,59,0,35
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,Unknown,0,13,75814434,75814434,IGR,SNP,C,A,,22,456,0,369
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,DOCK9,23348,13,99489775,99489775,Silent,SNP,C,T,c.(4216-4218)acG>acA,8,132,0,165
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,COL4A2,1284,13,111164351,111164351,Missense_Mutation,SNP,G,A,c.(4951-4953)cGc>cAc,18,421,0,219
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,F10,2159,13,113803451,113803451,Missense_Mutation,SNP,G,A,c.(1087-1089)Ggc>Agc,20,592,0,342
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,DCAF11,80344,14,24584913,24584913,Missense_Mutation,SNP,A,G,c.(109-111)gAt>gGt,10,76,0,106
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,KIAA0586,9786,14,58965545,58965545,Silent,SNP,C,A,c.(3988-3990)ccC>ccA,6,162,0,108
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,GTF2A1,2957,14,81669093,81669093,Intron,SNP,C,T,,9,157,0,173
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ADAM10,102,15,58913761,58913761,Missense_Mutation,SNP,C,T,c.(1420-1422)Ggc>Agc,12,310,1,282
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,IGDCC4,57722,15,65678285,65678285,Missense_Mutation,SNP,C,A,c.(3064-3066)Gtg>Ttg,23,209,1,122
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,IGDCC4,57722,15,65678291,65678291,Missense_Mutation,SNP,A,C,c.(3058-3060)Tcc>Gcc,41,208,1,118
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,IGDCC4,57722,15,65678293,65678293,Missense_Mutation,SNP,T,C,c.(3055-3057)gAg>gGg,26,227,1,118
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,IGDCC4,57722,15,65678295,65678295,Missense_Mutation,SNP,C,A,c.(3052-3054)ttG>ttT,22,233,0,110
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,PIGQ,9091,16,630885,630885,Missense_Mutation,SNP,G,T,c.(1444-1446)Ggc>Tgc,16,179,1,151
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,PIGQ,9091,16,630886,630886,Missense_Mutation,SNP,G,T,c.(1444-1446)gGc>gTc,17,178,0,160
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,SNX29,92017,16,12093188,12093188,Silent,SNP,G,A,c.(40-42)ctG>ctA,18,131,0,127
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,GPRC5C,55890,17,72435940,72435940,Missense_Mutation,SNP,A,G,c.(160-162)Atg>Gtg,31,186,0,78
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,EMILIN2,84034,18,2890828,2890828,Missense_Mutation,SNP,C,T,c.(703-705)Cct>Tct,4,160,0,95
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ZBTB7A,51341,19,4054335,4054335,Missense_Mutation,SNP,C,T,c.(895-897)gGa>gAa,10,118,0,95
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ZNF626,199777,19,20807583,20807583,Missense_Mutation,SNP,T,C,c.(1099-1101)aAa>aGa,6,343,1,196
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ZNF626,199777,19,20807606,20807606,Silent,SNP,A,G,c.(1075-1077)caT>caC,7,343,0,176
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ZNF493,284443,19,21606835,21606835,Silent,SNP,G,A,c.(988-990)gaG>gaA,7,297,0,126
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ZNF91,7644,19,23542628,23542628,Silent,SNP,C,T,c.(3151-3153)aaG>aaA,6,172,0,106
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ZNF91,7644,19,23542634,23542634,Silent,SNP,A,G,c.(3145-3147)ccT>ccC,6,166,0,113
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ZNF534,147658,19,52942326,52942326,Missense_Mutation,SNP,T,C,c.(1651-1653)gTg>gCg,7,181,0,71
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ZNF814,730051,19,58385880,58385880,Missense_Mutation,SNP,T,C,c.(877-879)gAa>gGa,5,275,0,140
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,C20orf26,0,20,20079390,20079390,Missense_Mutation,SNP,G,A,c.(790-792)gGa>gAa,12,167,0,128
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,MYH7B,57644,20,33573975,33573975,Missense_Mutation,SNP,T,G,c.(1003-1005)cTc>cGc,26,277,0,204
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,AP000350.4,0,22,24237666,24237666,Missense_Mutation,SNP,C,G,c.(139-141)Gat>Cat,4,124,0,82
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,TOMM22,56993,22,39078407,39078407,Missense_Mutation,SNP,C,G,c.(196-198)aCt>aGt,6,81,0,154
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,EFCAB6,64800,22,43996075,43996075,Missense_Mutation,SNP,G,A,c.(2749-2751)tCg>tTg,15,232,0,153
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,EDA,1896,X,68836528,68836528,Missense_Mutation,SNP,G,T,c.(376-378)Gac>Tac,17,145,0,101
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,SPRY3,10251,X,155003999,155003999,Missense_Mutation,SNP,G,A,c.(466-468)Gtc>Atc,23,276,0,215
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,ANTXR2,118429,4,80905881,80905885,Intron,DEL,TTATC,-,,8,151,,
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,APC,324,5,112175951,112175952,Frame_Shift_Ins,INS,-,A,c.(4660-4662)gaafs,27,203,,
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,MUC12,10071,7,100615593,100615594,Intron,DEL,CT,-,,5,0,,
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,WDR37,22884,10,1093570,1093573,5'Flank,DEL,CCGT,-,,6,9,,
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,CRYM,1428,16,21287002,21287016,Intron,DEL,AAGTTTTATAGCATC,-,,4,75,,
RP-1532_PCProject_0213_BLOOD_P_v1_Exome_OnPrem,TP53,7157,17,7577498,7577510,Splice_Site,DEL,CCTGGAGTCTTCC,-,c.(769-783)ctggaagactccagg>ct,14,220,,
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,PADI2,11240,1,17431555,17431555,Splice_Site,SNP,C,T,c.(94-96)Gcg>Acg,5,61,0,39
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,IVL,3713,1,152882862,152882862,Missense_Mutation,SNP,G,C,c.(589-591)Gag>Cag,4,56,0,61
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,CCDC181,57821,1,169388406,169388406,Intron,SNP,A,G,,10,223,0,78
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,CACNA1E,777,1,181702813,181702813,Silent,SNP,C,G,c.(3187-3189)gcC>gcG,17,109,0,58
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,Unknown,0,1,211832043,211832043,IGR,SNP,C,A,,11,72,0,70
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,USH2A,7399,1,216595677,216595677,Start_Codon_SNP,SNP,A,G,c.(1-3)aTg>aCg,20,189,0,126
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,OTOF,9381,2,26695380,26695380,Intron,SNP,G,A,,7,347,0,220
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,RANBP2,5903,2,109382241,109382241,Missense_Mutation,SNP,G,A,c.(5245-5247)tGt>tAt,6,436,0,287
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,SH3RF3,344558,2,110049023,110049023,Missense_Mutation,SNP,G,A,c.(1468-1470)atG>atA,12,392,1,154
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ANAPC1,64682,2,112582555,112582555,Missense_Mutation,SNP,T,C,c.(2800-2802)Atg>Gtg,10,144,0,99
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,SCN9A,6335,2,167083194,167083194,Silent,SNP,A,G,c.(4279-4281)taT>taC,4,125,0,52
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,EVX2,344191,2,176948253,176948253,Silent,SNP,G,A,c.(250-252)agC>agT,5,514,0,444
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,MYO1B,4430,2,192280833,192280833,Intron,SNP,C,A,,5,117,0,84
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ALS2CR11,151254,2,202358480,202358480,Intron,SNP,C,T,,7,87,0,69
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,CCDC108,255101,2,219888028,219888028,Silent,SNP,C,T,c.(2719-2721)tcG>tcA,29,257,0,150
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ALPI,248,2,233321389,233321389,Missense_Mutation,SNP,A,T,c.(283-285)tAc>tTc,12,80,0,64
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,TRAF3IP1,26146,2,239306327,239306327,Intron,SNP,G,T,,7,178,1,104
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,AC131097.3,0,2,242946302,242946302,RNA,SNP,A,G,,10,798,0,413
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,FBLN2,2199,3,13659634,13659634,Silent,SNP,G,T,c.(1786-1788)ctG>ctT,26,502,0,175
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,PP2D1,151649,3,20042967,20042967,Silent,SNP,C,T,c.(643-645)gcG>gcA,4,65,0,49
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,GMPPB,29925,3,49755689,49755689,3'UTR,SNP,C,T,,33,308,0,235
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,TLR9,54106,3,52256865,52256865,Silent,SNP,C,T,c.(1465-1467)ccG>ccA,9,108,0,108
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,CACNA1D,776,3,53694314,53694314,Intron,SNP,T,C,,22,453,0,227
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,MFSD1,64747,3,158519900,158519900,5'UTR,SNP,G,A,,8,106,0,201
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF595,152687,4,86164,86164,3'UTR,SNP,A,C,,6,355,1,324
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,KIAA0232,9778,4,6863131,6863131,Missense_Mutation,SNP,A,G,c.(1021-1023)aAg>aGg,6,227,0,147
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,TET2,54790,4,106197320,106197320,Missense_Mutation,SNP,C,G,c.(5653-5655)Cct>Gct,17,291,0,177
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,FREM3,166752,4,144618922,144618922,Missense_Mutation,SNP,C,T,c.(2905-2907)atG>atA,8,262,0,159
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,CBR4,84869,4,169923348,169923348,Missense_Mutation,SNP,C,A,c.(409-411)Gtt>Ttt,11,50,2,32
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,TENM3,55714,4,183721016,183721016,Missense_Mutation,SNP,C,T,c.(7612-7614)Cac>Tac,16,359,0,246
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,PDZD2,23037,5,32087981,32087981,Missense_Mutation,SNP,C,T,c.(4426-4428)cCg>cTg,11,169,0,58
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,PCDHGA4,56111,5,140736862,140736862,Missense_Mutation,SNP,G,A,c.(2095-2097)Gct>Act,4,193,0,123
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,PPP2R2B,5521,5,145980010,145980010,Silent,SNP,C,T,c.(802-804)ccG>ccA,19,124,0,86
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,CD74,972,5,149786777,149786777,Missense_Mutation,SNP,T,C,c.(235-237)gAc>gGc,6,180,0,109
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,PLEKHG1,57480,6,151055013,151055013,Missense_Mutation,SNP,G,A,c.(196-198)Gag>Aag,30,254,0,147
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,Unknown,0,7,63667612,63667612,IGR,SNP,G,A,,31,461,0,287
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,Unknown,0,7,63680397,63680397,IGR,SNP,A,G,,6,453,0,280
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,MLXIPL,51085,7,73011609,73011609,Silent,SNP,T,C,c.(1504-1506)ggA>ggG,25,122,2,36
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ELN,2006,7,73477689,73477689,Silent,SNP,C,T,c.(1906-1908)gcC>gcT,56,429,1,273
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,CYP3A4,1576,7,99359829,99359829,Missense_Mutation,SNP,G,A,c.(1087-1089)aCg>aTg,20,370,0,139
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,SSPO,23145,7,149513099,149513099,RNA,SNP,C,T,,4,181,0,72
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,FAM160B2,64760,8,21955032,21955032,Silent,SNP,C,G,c.(301-303)ccC>ccG,5,100,0,98
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,STAR,6770,8,38008274,38008274,Splice_Site,SNP,C,T,c.(61-63)aaG>aaA,13,196,0,182
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,SLCO5A1,81796,8,70667767,70667767,Missense_Mutation,SNP,A,T,c.(1150-1152)Ttt>Att,39,265,0,142
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,SYBU,55638,8,110588035,110588035,Silent,SNP,G,A,c.(1090-1092)atC>atT,8,455,0,216
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,POMT1,10585,9,134393900,134393900,Silent,SNP,C,T,c.(1405-1407)caC>caT,21,393,0,226
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ALOX5,240,10,45878056,45878056,Silent,SNP,C,T,c.(274-276)caC>caT,112,486,0,257
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ADO,84890,10,64564876,64564876,Silent,SNP,C,T,c.(55-57)ctC>ctT,14,89,0,35
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,CKAP5,9793,11,46799817,46799817,Missense_Mutation,SNP,A,T,c.(2620-2622)Tgg>Agg,8,168,0,107
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,OR4A47,403253,11,48511127,48511127,Silent,SNP,G,A,c.(781-783)agG>agA,26,379,0,189
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,SLC43A1,8501,11,57252578,57252578,Silent,SNP,C,T,c.(1669-1671)gtG>gtA,24,163,0,57
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,RARRES3,5920,11,63312261,63312261,Missense_Mutation,SNP,C,T,c.(286-288)gCg>gTg,5,436,0,202
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,CCDC87,55231,11,66359301,66359301,Missense_Mutation,SNP,C,T,c.(1186-1188)Gag>Aag,15,126,0,47
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,NADSYN1,55191,11,71185653,71185653,Intron,SNP,T,C,,17,243,0,110
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,METAP2,10988,12,95887825,95887825,Intron,SNP,T,G,,6,168,1,66
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,DNAH10,196385,12,124415918,124415918,Missense_Mutation,SNP,C,T,c.(12460-12462)aCg>aTg,12,182,0,116
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,KL,9365,13,33591233,33591233,Missense_Mutation,SNP,T,A,c.(655-657)Tac>Aac,20,375,0,243
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,MYH7,4625,14,23889007,23889007,Intron,SNP,G,T,,27,432,0,210
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,CGRRF1,10668,14,54996914,54996914,Missense_Mutation,SNP,A,G,c.(391-393)tAt>tGt,5,63,0,43
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,CGRRF1,10668,14,54996915,54996915,Nonsense_Mutation,SNP,T,G,c.(391-393)taT>taG,5,64,0,43
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,SERPINA13P,388007,14,95107677,95107677,RNA,SNP,T,C,,24,80,1,36
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,PIGQ,9091,16,630867,630867,Silent,SNP,C,T,c.(1426-1428)Ctg>Ttg,11,173,0,94
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,PIGQ,9091,16,630868,630868,Missense_Mutation,SNP,T,C,c.(1426-1428)cTg>cCg,27,159,1,93
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,PIGQ,9091,16,630886,630886,Missense_Mutation,SNP,G,T,c.(1444-1446)gGc>gTc,13,188,0,126
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,BAIAP3,8938,16,1396853,1396853,Missense_Mutation,SNP,T,C,c.(2752-2754)cTg>cCg,9,164,0,117
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,SNX29P2,440352,16,29376040,29376040,RNA,SNP,C,A,,11,387,1,253
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,FUS,2521,16,31202304,31202304,Missense_Mutation,SNP,C,T,c.(1414-1416)Cgt>Tgt,5,99,0,64
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,KATNB1,10300,16,57787330,57787330,Missense_Mutation,SNP,G,A,c.(1075-1077)cGc>cAc,6,89,1,65
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ACSF3,197322,16,89203233,89203233,Intron,SNP,T,C,,8,121,0,58
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,FANCA,2175,16,89845353,89845353,Missense_Mutation,SNP,C,T,c.(1774-1776)Gtg>Atg,72,905,0,340
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,TCF25,22980,16,89960237,89960237,Missense_Mutation,SNP,G,A,c.(799-801)Gtg>Atg,5,249,1,120
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,EME1,146956,17,48456894,48456894,Missense_Mutation,SNP,G,A,c.(1312-1314)Gca>Aca,24,158,0,79
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,SDK2,54549,17,71386452,71386452,Missense_Mutation,SNP,G,T,c.(4165-4167)gCc>gAc,12,78,0,42
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,RP11-219G17.4,0,17,76267873,76267873,lincRNA,SNP,G,A,,8,115,0,51
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,TBCD,6904,17,80772794,80772794,Silent,SNP,G,A,c.(1300-1302)ccG>ccA,8,196,0,77
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF799,90576,19,12501347,12501347,Missense_Mutation,SNP,C,T,c.(1864-1866)gGa>gAa,9,367,1,228
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF709,163051,19,12575562,12575562,Missense_Mutation,SNP,A,G,c.(1174-1176)Tat>Cat,5,199,0,118
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,DDA1,79016,19,17424911,17424911,Splice_Site,SNP,C,T,c.(82-84)tCg>tTg,4,72,0,42
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,KLHL26,55295,19,18779852,18779852,Missense_Mutation,SNP,C,A,c.(1645-1647)Cag>Aag,14,180,0,73
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF253,56242,19,20002658,20002658,Missense_Mutation,SNP,G,A,c.(601-603)aGa>aAa,5,302,1,214
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF737,100129842,19,20727843,20727843,Missense_Mutation,SNP,C,A,c.(1165-1167)aGa>aTa,5,307,1,293
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF626,199777,19,20807583,20807583,Missense_Mutation,SNP,T,C,c.(1099-1101)aAa>aGa,9,447,1,372
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF430,80264,19,21239964,21239964,Missense_Mutation,SNP,A,G,c.(850-852)Act>Gct,6,305,1,247
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF708,7562,19,21476603,21476603,Missense_Mutation,SNP,C,T,c.(1165-1167)Gag>Aag,9,304,0,207
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF429,353088,19,21720355,21720355,Silent,SNP,A,G,c.(1498-1500)aaA>aaG,6,382,0,270
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF208,7757,19,22154211,22154211,Missense_Mutation,SNP,G,A,c.(3625-3627)Ccc>Tcc,8,343,0,246
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF208,7757,19,22154365,22154365,Missense_Mutation,SNP,A,T,c.(3469-3471)agT>agA,11,274,1,229
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF208,7757,19,22154417,22154417,Missense_Mutation,SNP,G,A,c.(3418-3420)cCc>cTc,9,286,1,327
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF99,7652,19,22951139,22951139,Missense_Mutation,SNP,A,C,c.(193-195)aTg>aGg,11,292,0,121
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF254,9534,19,24310450,24310450,Missense_Mutation,SNP,A,G,c.(1648-1650)Aaa>Gaa,7,273,1,177
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,IFNL2,282616,19,39760612,39760612,Nonsense_Mutation,SNP,C,T,c.(562-564)Cga>Tga,50,400,0,174
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,MYBPC2,4606,19,50961882,50961882,Missense_Mutation,SNP,C,T,c.(2377-2379)Cgc>Tgc,9,248,0,107
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,GPR32,2854,19,51274668,51274668,Missense_Mutation,SNP,C,T,c.(811-813)Ccg>Tcg,25,296,0,93
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF813,126017,19,53994994,53994994,Missense_Mutation,SNP,G,T,c.(1507-1509)gGt>gTt,8,343,0,205
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF549,256051,19,58049499,58049499,Missense_Mutation,SNP,G,A,c.(1126-1128)cGc>cAc,5,343,0,107
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF814,730051,19,58385880,58385880,Missense_Mutation,SNP,T,C,c.(877-879)gAa>gGa,6,236,0,89
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,EFCAB8,388795,20,31506337,31506337,3'UTR,SNP,G,A,,33,511,0,233
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,BPIFB6,128859,20,31623486,31623486,Intron,SNP,T,C,,21,256,0,145
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,VAPB,9217,20,57021340,57021340,3'UTR,SNP,C,T,,8,235,1,95
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,OPRL1,4987,20,62729840,62729840,Silent,SNP,G,T,c.(799-801)gtG>gtT,22,400,0,218
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,AGPAT3,56894,21,45404997,45404997,3'UTR,SNP,G,A,,5,595,0,213
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,PRODH,5625,22,18904413,18904413,Missense_Mutation,SNP,C,T,c.(1516-1518)Gca>Aca,14,211,1,91
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,NDUFB11,54539,X,47004033,47004033,Missense_Mutation,SNP,C,T,c.(46-48)Gca>Aca,3,39,0,24
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,ZNF449,203523,X,134483081,134483081,Missense_Mutation,SNP,C,T,c.(400-402)aCg>aTg,16,228,0,116
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,JAK1,3716,1,65330610,65330611,Frame_Shift_Ins,INS,-,T,c.(1033-1038)aaactgfs,18,76,,
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,DNAJB13,374407,11,73669381,73669381,Frame_Shift_Del,DEL,A,-,c.(88-90)aagfs,18,160,,
RP-1532_PCProject_0294_BLOOD_P_v1_Exome_OnPrem,SCFD1,23256,14,31113259,31113263,Intron,DEL,TCTTT,-,,5,189,,
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,KIAA0754,643314,1,39879339,39879339,Silent,SNP,T,A,c.(2992-2994)gcT>gcA,7,124,0,86
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,MACF1,23499,1,39904945,39904945,Splice_Site,SNP,G,A,c.e71-1,10,17,0,35
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,HRNR,388697,1,152193507,152193507,Missense_Mutation,SNP,C,G,c.(598-600)Ggg>Cgg,56,490,0,191
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,NPR1,4881,1,153651652,153651652,Missense_Mutation,SNP,T,C,c.(67-69)cTg>cCg,7,425,0,109
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,OR10X1,128367,1,158548773,158548773,Missense_Mutation,SNP,C,T,c.(916-918)aGg>aAg,59,136,0,73
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,RCSD1,92241,1,167667010,167667010,Silent,SNP,C,G,c.(1147-1149)ccC>ccG,8,38,0,10
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,CACNA1S,779,1,201034980,201034980,Missense_Mutation,SNP,C,T,c.(2839-2841)Gtc>Atc,145,303,0,178
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,HIST3H2BB,128312,1,228646199,228646199,Silent,SNP,C,A,c.(367-369)acC>acA,48,204,0,164
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,PCNXL2,80003,1,233386536,233386536,Missense_Mutation,SNP,T,A,c.(2170-2172)gAa>gTa,10,72,0,87
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,Unknown,0,1,248285623,248285623,IGR,SNP,A,G,,82,269,0,166
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,IGKV1-8,28942,2,89292364,89292364,RNA,SNP,G,T,,33,353,0,193
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,RGPD4,285190,2,108496417,108496417,Intron,SNP,G,C,,8,103,1,168
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,ADAM23,8745,2,207460796,207460796,Missense_Mutation,SNP,T,A,c.(2269-2271)Tgc>Agc,5,147,0,100
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,PSMD1,5707,2,231945017,231945017,Missense_Mutation,SNP,G,A,c.(1402-1404)Gcc>Acc,4,31,0,59
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,SCN5A,6331,3,38627301,38627301,Missense_Mutation,SNP,T,C,c.(2668-2670)Atc>Gtc,45,297,0,187
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,ADAMTS9,56999,3,64644449,64644449,Missense_Mutation,SNP,C,T,c.(697-699)aGt>aAt,12,57,0,82
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,POGLUT1,56983,3,119187890,119187890,Missense_Mutation,SNP,C,G,c.(22-24)Ccg>Gcg,19,219,0,152
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,STXBP5L,9515,3,121100373,121100373,Missense_Mutation,SNP,C,G,c.(2653-2655)Cca>Gca,11,16,0,56
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,ETV5,2119,3,185802012,185802012,Intron,SNP,G,A,,4,28,0,88
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,ZNF827,152485,4,146806945,146806945,Silent,SNP,G,A,c.(1630-1632)ccC>ccT,4,124,0,53
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,NNT,23530,5,43656818,43656818,Missense_Mutation,SNP,C,A,c.(2356-2358)gCt>gAt,7,129,0,96
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,FAM13B,51306,5,137281601,137281601,Missense_Mutation,SNP,G,C,c.(2263-2265)aCt>aGt,8,42,0,50
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,PCDHA10,56139,5,140237243,140237243,Missense_Mutation,SNP,G,A,c.(1609-1611)cGc>cAc,183,633,1,496
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,UHRF1BP1,54887,6,34840148,34840148,Missense_Mutation,SNP,A,G,c.(4255-4257)aAt>aGt,8,35,0,40
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,NCR2,9436,6,41303657,41303657,Silent,SNP,C,T,c.(43-45)Ctg>Ttg,4,181,0,78
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,Unknown,0,7,98894452,98894452,IGR,SNP,C,A,,28,412,0,237
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,COPS6,10980,7,99687327,99687327,Missense_Mutation,SNP,A,C,c.(292-294)Att>Ctt,11,48,0,49
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,KLRG2,346689,7,139167927,139167927,Silent,SNP,C,T,c.(460-462)ccG>ccA,4,200,0,138
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,DPP6,1804,7,154664387,154664387,Missense_Mutation,SNP,C,G,c.(1867-1869)Cct>Gct,53,295,1,160
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,SARDH,1757,9,136536648,136536648,Intron,SNP,T,C,,16,105,2,34
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,FZD8,8325,10,35929598,35929598,Missense_Mutation,SNP,T,C,c.(760-762)Aca>Gca,16,114,0,120
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,ANO5,203859,11,22247597,22247597,Splice_Site,SNP,G,C,c.(361-363)aGg>aCg,8,46,0,97
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,FDX1,2230,11,110333203,110333203,3'UTR,SNP,A,G,,13,70,0,49
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,IGSF9B,22997,11,133790383,133790383,Silent,SNP,T,A,c.(3235-3237)ggA>ggT,19,57,0,17
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,KCNA1,3736,12,5020859,5020859,Silent,SNP,G,A,c.(313-315)ccG>ccA,5,552,1,232
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,LRRIQ1,84125,12,85439809,85439809,Missense_Mutation,SNP,A,C,c.(346-348)gaA>gaC,5,17,0,43
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,HIP1R,9026,12,123335208,123335208,Intron,SNP,G,T,,9,58,0,14
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,ANKLE2,23141,12,133311120,133311120,Missense_Mutation,SNP,C,A,c.(1741-1743)tGg>tTg,11,182,0,104
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,ZNF891,101060200,12,133696889,133696889,Missense_Mutation,SNP,G,C,c.(1615-1617)aCt>aGt,6,46,0,42
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,LACC1,144811,13,44455597,44455597,Missense_Mutation,SNP,G,T,c.(475-477)gGa>gTa,11,17,0,45
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,TRAV9-2,28677,14,22409550,22409550,RNA,SNP,T,C,,4,71,1,52
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,FOXA1,3169,14,38061347,38061347,Missense_Mutation,SNP,C,G,c.(640-642)tgG>tgC,16,130,0,109
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,PDXDC1,23042,16,15222179,15222179,Intron,SNP,A,G,,9,517,0,218
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,ERI2,112479,16,20811279,20811279,Splice_Site,SNP,C,T,c.(643-645)Ggg>Agg,5,15,0,35
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,ITGAD,3681,16,31429643,31429643,Missense_Mutation,SNP,G,A,c.(2638-2640)Gat>Aat,21,270,0,132
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,CHD9,80205,16,53272487,53272487,Missense_Mutation,SNP,A,G,c.(2866-2868)Agg>Ggg,12,26,0,78
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,SLC4A1,6521,17,42334898,42334898,Silent,SNP,G,A,c.(1444-1446)aaC>aaT,6,592,0,194
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,SCN4A,6329,17,62024407,62024407,Missense_Mutation,SNP,T,C,c.(3439-3441)Agg>Ggg,32,260,1,63
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,RALBP1,10928,18,9522368,9522368,Missense_Mutation,SNP,G,A,c.(913-915)cGt>cAt,12,151,0,138
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,IMPA2,3613,18,12028081,12028081,Missense_Mutation,SNP,A,G,c.(529-531)aAa>aGa,19,79,0,95
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,PSMA8,143471,18,23713928,23713928,5'UTR,SNP,C,T,,9,56,0,64
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,PHLPP1,23239,18,60384235,60384235,Missense_Mutation,SNP,C,T,c.(1318-1320)gCg>gTg,4,190,1,161
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,HCN2,610,19,613469,613469,Silent,SNP,C,T,c.(1804-1806)tcC>tcT,48,151,0,91
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,PNPLA6,10908,19,7620252,7620252,Splice_Site,SNP,A,G,c.(2821-2823)Agg>Ggg,23,191,2,83
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,DMKN,93099,19,36004243,36004243,Silent,SNP,G,A,c.(133-135)gaC>gaT,109,439,0,215
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,RYR1,6261,19,38948732,38948732,Missense_Mutation,SNP,C,T,c.(1966-1968)aCg>aTg,182,387,0,243
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,MRPS12,6183,19,39423139,39423139,Missense_Mutation,SNP,G,T,c.(214-216)aaG>aaT,49,196,0,99
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,APOC2,344,19,45452451,45452451,Missense_Mutation,SNP,C,T,c.(250-252)aCt>aTt,68,274,0,266
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,CCDC8,83987,19,46914494,46914494,Missense_Mutation,SNP,G,T,c.(1573-1575)gCc>gAc,12,242,0,95
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,NLRP5,126206,19,56511153,56511153,Splice_Site,SNP,C,T,c.(61-63)gCt>gTt,33,129,0,98
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,MZF1,7593,19,59074280,59074280,Missense_Mutation,SNP,A,T,c.(1363-1365)cTg>cAg,59,130,0,112
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,RBCK1,10616,20,400101,400101,Missense_Mutation,SNP,G,C,c.(571-573)Gag>Cag,35,101,0,65
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,SPTLC3,55304,20,13098276,13098276,Silent,SNP,G,A,c.(1054-1056)acG>acA,15,267,0,87
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,RPL3,6122,22,39712829,39712829,Missense_Mutation,SNP,T,G,c.(382-384)aAg>aCg,38,116,0,115
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,RPL3,6122,22,39712830,39712830,Missense_Mutation,SNP,T,C,c.(382-384)Aag>Gag,39,114,1,116
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,VILL,50853,3,38043962,38043966,Frame_Shift_Del,DEL,CACAA,-,c.(1555-1560)cacaacfs,13,64,,
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,TLX3,30012,5,170736294,170736294,5'UTR,DEL,C,-,,31,71,,
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,MRPS18B,28973,6,30595213,30595216,IGR,DEL,TCTT,-,,23,63,,
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,LPA,4018,6,160978642,160978642,Intron,DEL,A,-,,26,83,,
RP-1532_PCProject_0296_BLOOD_P_v1_Exome_OnPrem,AC090324.1,0,18,55686161,55686162,RNA,INS,-,CCCTTTGCTC,,15,100,,
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,CPSF3L,54973,1,1248046,1248046,Silent,SNP,C,T,c.(1327-1329)acG>acA,4,49,0,45
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,ZBTB40,9923,1,22816527,22816527,Missense_Mutation,SNP,C,A,c.(85-87)tCc>tAc,30,332,0,218
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,KCNQ4,9132,1,41296755,41296755,Splice_Site,SNP,G,A,c.e10-1,4,217,0,113
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,DHCR24,1718,1,55352682,55352682,Silent,SNP,G,C,c.(109-111)ctC>ctG,8,341,0,391
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,AP4B1,10717,1,114444414,114444414,Silent,SNP,A,G,c.(430-432)tgT>tgC,10,228,0,248
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,PGLYRP3,114771,1,153274899,153274899,Nonsense_Mutation,SNP,A,T,c.(712-714)tgT>tgA,16,239,0,112
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,CRTC2,200186,1,153926772,153926772,Silent,SNP,A,G,c.(391-393)agT>agC,9,182,0,118
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,NTRK1,4914,1,156834231,156834231,Intron,SNP,C,T,,61,258,0,157
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,FCRL3,115352,1,157648537,157648537,Missense_Mutation,SNP,T,C,c.(2167-2169)gAg>gGg,10,219,0,128
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,ADCY10,55811,1,167870981,167870981,Missense_Mutation,SNP,C,G,c.(355-357)Gta>Cta,32,397,0,257
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,SMYD2,56950,1,214492230,214492230,Silent,SNP,G,A,c.(436-438)aaG>aaA,9,82,0,94
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,RYR2,6262,1,237670113,237670113,Splice_Site,SNP,C,T,c.(2716-2718)cCg>cTg,4,59,0,108
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,CAD,790,2,27449803,27449803,Missense_Mutation,SNP,A,C,c.(2071-2073)Aag>Cag,19,125,0,102
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,AC009499.1,0,2,33952317,33952317,lincRNA,SNP,T,C,,5,308,0,207
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,LHCGR,3973,2,48915930,48915930,Missense_Mutation,SNP,A,G,c.(1006-1008)Tgc>Cgc,6,141,0,119
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,UGT1A4,54657,2,234627539,234627539,Missense_Mutation,SNP,T,A,c.(73-75)Tgg>Agg,21,373,0,192
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,NEK10,152110,3,27216186,27216186,Missense_Mutation,SNP,C,T,c.(2644-2646)Gaa>Aaa,4,90,0,59
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,ACAA1,30,3,38173097,38173097,Missense_Mutation,SNP,T,A,c.(436-438)Atg>Ttg,9,133,0,151
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,GMPPB,29925,3,49755423,49755423,3'UTR,SNP,G,A,,12,237,0,119
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,MYH15,22989,3,108174657,108174657,Missense_Mutation,SNP,T,G,c.(2248-2250)Agc>Cgc,9,147,0,115
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,EPHB1,2047,3,134884864,134884864,Missense_Mutation,SNP,C,T,c.(1639-1641)gCg>gTg,9,294,0,127
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,KIAA1239,0,4,37445565,37445565,Missense_Mutation,SNP,A,C,c.(1954-1956)aAg>aCg,10,217,0,130
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,KDR,3791,4,55976662,55976662,Missense_Mutation,SNP,A,C,c.(1162-1164)gTg>gGg,11,157,0,147
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,AFP,174,4,74319539,74319539,Silent,SNP,T,C,c.(1708-1710)gcT>gcC,10,177,0,147
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,FGG,2266,4,155530775,155530775,Intron,SNP,A,C,,8,144,1,183
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,TLL1,7092,4,166981269,166981269,Missense_Mutation,SNP,T,C,c.(1936-1938)Tgg>Cgg,9,294,0,221
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,CDH18,1016,5,19483500,19483500,Missense_Mutation,SNP,G,A,c.(1792-1794)Cgg>Tgg,4,218,0,172
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,GLO1,2739,6,38650620,38650620,Missense_Mutation,SNP,T,G,c.(340-342)Agt>Cgt,12,181,0,134
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,PKHD1,5314,6,51910975,51910975,Missense_Mutation,SNP,G,T,c.(2419-2421)Caa>Aaa,31,290,0,228
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,CD109,135228,6,74502434,74502434,Missense_Mutation,SNP,T,A,c.(2785-2787)ttT>ttA,5,134,0,130
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,CNR1,1268,6,88854002,88854002,Missense_Mutation,SNP,C,T,c.(991-993)cGg>cAg,9,305,1,197
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,GRM1,2911,6,146480672,146480672,Nonsense_Mutation,SNP,C,T,c.(889-891)Cga>Tga,22,292,0,219
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,GRM1,2911,6,146720759,146720759,Missense_Mutation,SNP,G,A,c.(2584-2586)Gat>Aat,8,130,0,89
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,THSD7A,221981,7,11632996,11632996,Missense_Mutation,SNP,G,A,c.(1156-1158)Cgt>Tgt,16,324,0,245
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,SUN3,256979,7,48046892,48046892,Missense_Mutation,SNP,C,T,c.(361-363)cGt>cAt,7,74,0,50
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,KMT2C,58508,7,151853089,151853089,Missense_Mutation,SNP,C,T,c.(11866-11868)Gac>Aac,4,129,0,83
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,REEP4,80346,8,21996223,21996223,Silent,SNP,G,T,c.(637-639)Cgg>Agg,8,157,0,97
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,ZNF395,55893,8,28210816,28210816,Silent,SNP,C,G,c.(691-693)tcG>tcC,16,81,1,36
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,RP1,6101,8,55539118,55539118,Silent,SNP,A,G,c.(2674-2676)gcA>gcG,5,92,0,120
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,DCAF4L2,138009,8,88885668,88885668,Missense_Mutation,SNP,A,G,c.(532-534)Tgc>Cgc,22,462,0,281
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,DCAF4L2,138009,8,88885952,88885952,Missense_Mutation,SNP,G,T,c.(247-249)aCt>aAt,13,371,1,219
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,FZD6,8323,8,104312365,104312365,Silent,SNP,T,C,c.(28-30)tgT>tgC,4,111,0,99
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,NR4A3,8013,9,102595003,102595003,Silent,SNP,C,T,c.(982-984)tgC>tgT,5,73,0,43
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,ZNF189,7743,9,104171397,104171397,Silent,SNP,C,G,c.(1345-1347)gtC>gtG,3,51,0,54
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,PTCHD3,374308,10,27702213,27702213,Missense_Mutation,SNP,G,A,c.(967-969)Cgg>Tgg,13,156,0,108
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,PCDH15,65217,10,56138684,56138684,Missense_Mutation,SNP,T,G,c.(175-177)aAc>aCc,9,299,0,196
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,AC051649.6,0,11,2016484,2016484,lincRNA,SNP,G,A,,5,107,1,45
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,OTOG,340990,11,17631330,17631330,Missense_Mutation,SNP,C,A,c.(4519-4521)Cac>Aac,3,27,0,17
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,NAV2,89797,11,20065581,20065581,Missense_Mutation,SNP,G,T,c.(3031-3033)Gat>Tat,9,129,0,82
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,ABCG4,64137,11,119031019,119031019,Nonsense_Mutation,SNP,C,G,c.(1519-1521)tCa>tGa,9,257,0,132
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,KIRREL3,84623,11,126294835,126294835,Silent,SNP,G,A,c.(1975-1977)ccC>ccT,7,62,0,28
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,ARHGAP32,9743,11,128842998,128842998,Missense_Mutation,SNP,G,C,c.(3361-3363)Cta>Gta,12,317,0,185
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,Unknown,0,12,92214,92214,IGR,SNP,G,A,,17,2129,1,1891
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,KRT3,3850,12,53189266,53189266,Silent,SNP,G,A,c.(559-561)atC>atT,18,310,0,212
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,GPR133,283383,12,131487368,131487368,Intron,SNP,G,A,,3,28,0,22
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,MDGA2,161357,14,47426601,47426601,Missense_Mutation,SNP,C,T,c.(1858-1860)Ggg>Agg,5,133,0,96
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,GPATCH2L,55668,14,76642994,76642994,Missense_Mutation,SNP,A,G,c.(1012-1014)gAg>gGg,8,80,0,87
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,PLCB2,5330,15,40594500,40594500,Silent,SNP,G,A,c.(421-423)aaC>aaT,20,219,0,189
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,NUDT21,11051,16,56481875,56481875,Missense_Mutation,SNP,C,A,c.(142-144)gGt>gTt,8,213,0,139
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,CMTR2,55783,16,71317599,71317599,Missense_Mutation,SNP,A,G,c.(2224-2226)tTg>tCg,7,85,0,127
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,TP53,7157,17,7577129,7577129,Missense_Mutation,SNP,A,G,c.(808-810)tTt>tCt,43,407,1,332
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,PIK3R5,23533,17,8790439,8790439,Missense_Mutation,SNP,G,A,c.(1879-1881)Cac>Tac,7,143,0,89
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,BZRAP1,9256,17,56405184,56405184,Missense_Mutation,SNP,C,A,c.(97-99)gGt>gTt,19,235,0,128
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,ABCA9,10350,17,67014660,67014660,Silent,SNP,T,C,c.(2659-2661)tcA>tcG,6,50,0,39
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,GCGR,2642,17,79768990,79768990,Missense_Mutation,SNP,G,A,c.(376-378)Gag>Aag,14,221,0,145
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,GTF2F1,2962,19,6380586,6380586,Missense_Mutation,SNP,G,C,c.(1345-1347)agC>agG,8,203,0,135
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,SLC1A6,6511,19,15065082,15065082,Missense_Mutation,SNP,C,T,c.(1228-1230)cGc>cAc,22,416,0,222
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,CYP4F3,4051,19,15758045,15758045,Missense_Mutation,SNP,C,T,c.(436-438)Cgc>Tgc,14,180,0,135
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,NR2F6,2063,19,17343444,17343444,Intron,SNP,A,G,,3,31,0,10
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,C19orf81,342918,19,51162216,51162216,Silent,SNP,G,T,c.(412-414)gcG>gcT,3,49,0,43
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,SIGLEC6,946,19,52033930,52033930,Intron,SNP,C,A,,14,180,0,135
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,NLRP13,126204,19,56423854,56423854,Silent,SNP,G,A,c.(1327-1329)taC>taT,7,121,0,122
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,BRWD1,54014,21,40652140,40652140,Missense_Mutation,SNP,A,T,c.(865-867)aTg>aAg,3,67,0,68
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,RIPK4,54101,21,43176806,43176806,Missense_Mutation,SNP,C,T,c.(352-354)cGg>cAg,23,496,1,226
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,KRTAP10-9,386676,21,46047223,46047223,Silent,SNP,G,T,c.(133-135)ctG>ctT,20,312,1,244
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,LSS,4047,21,47626643,47626643,Missense_Mutation,SNP,A,G,c.(1507-1509)Tat>Cat,7,196,0,155
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,PCDH19,57526,X,99551481,99551481,Missense_Mutation,SNP,C,T,c.(3241-3243)Gtg>Atg,25,164,0,69
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,RP11-1007I13.4,0,X,151283787,151283787,RNA,SNP,C,T,,6,118,0,75
RP-1532_PCProject_0328_BLOOD_P_v1_Exome_OnPrem,CTAG2,30848,X,153881588,153881588,Missense_Mutation,SNP,C,T,c.(202-204)Gcc>Acc,28,762,0,399
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SKI,6497,1,2235835,2235835,Silent,SNP,T,A,c.(1576-1578)ccT>ccA,135,381,0,181
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PLCH2,9651,1,2436532,2436532,Silent,SNP,C,T,c.(4129-4131)ggC>ggT,36,413,0,118
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MMEL1,79258,1,2542790,2542790,Intron,SNP,G,A,,9,82,0,23
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,EPHA2,1969,1,16458773,16458773,Intron,SNP,C,T,,103,472,0,312
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,AHDC1,27245,1,27875786,27875786,Silent,SNP,C,T,c.(2839-2841)ctG>ctA,9,59,0,30
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PDZK1IP1,10158,1,47653041,47653041,Silent,SNP,G,C,c.(124-126)gtC>gtG,20,281,0,155
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,GLIS1,148979,1,53990539,53990539,Missense_Mutation,SNP,G,A,c.(979-981)Cct>Tct,4,126,0,76
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,AK4,205,1,65690491,65690491,Missense_Mutation,SNP,A,T,c.(493-495)gaA>gaT,11,146,0,128
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MSH4,4438,1,76378489,76378489,Nonsense_Mutation,SNP,C,T,c.(2728-2730)Cga>Tga,44,75,0,122
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CELSR2,1952,1,109801326,109801326,Missense_Mutation,SNP,G,T,c.(3583-3585)Ggc>Tgc,76,209,0,70
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SLC16A4,9122,1,110918114,110918114,Silent,SNP,A,T,c.(1300-1302)gcT>gcA,4,112,0,90
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,WDR77,79084,1,111991766,111991766,Missense_Mutation,SNP,A,G,c.(25-27)cTa>cCa,26,279,1,98
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PHTF1,10745,1,114249271,114249271,Missense_Mutation,SNP,T,G,c.(1342-1344)gAg>gCg,4,92,0,68
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PGLYRP4,57115,1,153314172,153314172,Missense_Mutation,SNP,A,T,c.(556-558)Tat>Aat,17,309,0,113
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,KCNN3,3782,1,154687459,154687459,Missense_Mutation,SNP,A,T,c.(1720-1722)aaT>aaA,7,344,0,215
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CLK2,1196,1,155233827,155233827,Nonsense_Mutation,SNP,G,A,c.(1231-1233)Cag>Tag,128,276,0,117
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NES,10763,1,156639326,156639326,Missense_Mutation,SNP,C,T,c.(4654-4656)Gga>Aga,26,226,0,63
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,OR6P1,128366,1,158533086,158533086,Missense_Mutation,SNP,G,T,c.(307-309)ttC>ttA,9,365,0,157
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SPTA1,6708,1,158585126,158585126,Nonsense_Mutation,SNP,A,T,c.(6667-6669)tTg>tAg,89,270,0,156
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SCYL3,57147,1,169831831,169831831,Missense_Mutation,SNP,T,C,c.(1063-1065)Atg>Gtg,8,373,0,197
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,FMO2,2327,1,171173044,171173044,Missense_Mutation,SNP,G,A,c.(667-669)cGt>cAt,23,511,0,184
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,RNASEL,6041,1,182555256,182555256,Missense_Mutation,SNP,C,T,c.(685-687)gGg>gAg,32,324,0,130
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NMNAT2,23057,1,183253145,183253145,Missense_Mutation,SNP,G,A,c.(559-561)Cgg>Tgg,5,335,0,141
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,F13B,2165,1,197024972,197024972,Silent,SNP,G,A,c.(1225-1227)gaC>gaT,84,222,0,158
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CHIT1,1118,1,203188857,203188857,Missense_Mutation,SNP,G,A,c.(850-852)Cca>Tca,40,675,1,178
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LRRN2,10446,1,204587218,204587218,Silent,SNP,G,A,c.(1903-1905)Ctg>Ttg,47,402,0,131
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,KLHDC8A,55220,1,205308807,205308807,Missense_Mutation,SNP,G,C,c.(505-507)aCc>aGc,23,199,0,85
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CR1,1378,1,207785140,207785140,Silent,SNP,T,C,c.(6412-6414)gcT>gcC,72,405,0,186
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PROX1,5629,1,214171276,214171276,Missense_Mutation,SNP,G,T,c.(1396-1398)caG>caT,32,127,0,51
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,USH2A,7399,1,216260094,216260094,Missense_Mutation,SNP,G,A,c.(4954-4956)Ccg>Tcg,17,367,0,205
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,GNPAT,8443,1,231411030,231411030,Missense_Mutation,SNP,G,A,c.(1807-1809)Gca>Aca,41,326,0,255
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,GGPS1,9453,1,235505393,235505393,Nonsense_Mutation,SNP,C,G,c.(208-210)tCa>tGa,111,174,0,67
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NID1,4811,1,236205488,236205488,Missense_Mutation,SNP,C,T,c.(856-858)gGg>gAg,33,485,0,172
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CHRM3,1131,1,240071738,240071738,Missense_Mutation,SNP,A,C,c.(985-987)caA>caC,23,224,0,70
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CHRM3,1131,1,240071739,240071739,Missense_Mutation,SNP,G,C,c.(988-990)Gac>Cac,22,224,0,70
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,OR2T33,391195,1,248436600,248436600,Missense_Mutation,SNP,C,T,c.(517-519)Gat>Aat,20,478,0,233
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LPIN1,23175,2,11925175,11925175,Missense_Mutation,SNP,C,T,c.(1414-1416)Ctc>Ttc,25,182,1,61
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NLRC4,58484,2,32475152,32475152,Missense_Mutation,SNP,T,A,c.(1780-1782)tAc>tTc,14,113,0,137
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,GFPT1,2673,2,69565680,69565680,Silent,SNP,C,T,c.(1219-1221)gaG>gaA,13,186,0,218
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,THNSL2,55258,2,88474151,88474151,Intron,SNP,C,A,,8,67,0,39
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ITPRIPL1,150771,2,96992021,96992021,Intron,SNP,G,C,,24,390,0,145
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ANKRD36,375248,2,97860594,97860594,Missense_Mutation,SNP,G,C,c.(2491-2493)Gag>Cag,16,294,0,281
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,IWS1,55677,2,128262895,128262895,Missense_Mutation,SNP,G,A,c.(583-585)gCc>gTc,96,237,0,124
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LCT,3938,2,136562597,136562597,Missense_Mutation,SNP,C,T,c.(4204-4206)Gga>Aga,19,424,0,190
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SCN9A,6335,2,167143033,167143033,Missense_Mutation,SNP,C,T,c.(1414-1416)aGt>aAt,8,99,0,95
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,HECW2,57520,2,197184204,197184204,Silent,SNP,G,A,c.(1408-1410)caC>caT,38,76,0,58
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,HECW2,57520,2,197187191,197187191,Intron,SNP,G,A,,12,110,0,59
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,RFTN2,130132,2,198511343,198511343,Missense_Mutation,SNP,C,A,c.(187-189)Gta>Tta,34,81,1,55
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SUMO1,7341,2,203075515,203075515,Missense_Mutation,SNP,A,T,c.(178-180)aaT>aaA,3,19,0,69
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,WDR12,55759,2,203765744,203765744,Intron,SNP,T,A,,4,33,0,33
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CPS1,1373,2,211527886,211527886,Missense_Mutation,SNP,C,A,c.(3967-3969)Ccc>Acc,39,492,1,302
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,FN1,2335,2,216272847,216272847,Silent,SNP,G,A,c.(2500-2502)ccC>ccT,53,458,0,161
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,COL4A4,1286,2,227912266,227912266,Splice_Site,SNP,C,G,c.e35-1,5,485,0,193
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,COL4A4,1286,2,227946859,227946859,Silent,SNP,C,T,c.(1666-1668)aaG>aaA,39,369,0,229
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,DNER,92737,2,230282952,230282952,Intron,SNP,G,C,,6,321,0,96
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,AGAP1,116987,2,236945337,236945337,Missense_Mutation,SNP,C,T,c.(1777-1779)tCg>tTg,227,304,0,190
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,AGAP1,116987,2,236949440,236949440,Silent,SNP,C,A,c.(1846-1848)Cgg>Agg,19,353,0,136
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,COL6A3,1293,2,238245003,238245003,Missense_Mutation,SNP,G,A,c.(8740-8742)Cct>Tct,49,638,0,270
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,KIF1A,547,2,241722489,241722489,Missense_Mutation,SNP,C,T,c.(835-837)gGc>gAc,50,529,0,242
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,KIF1A,547,2,241722490,241722490,Missense_Mutation,SNP,C,T,c.(835-837)Ggc>Agc,50,518,0,244
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TOP2B,7155,3,25660160,25660160,Missense_Mutation,SNP,C,T,c.(3244-3246)Ggg>Agg,6,63,0,43
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,XYLB,9942,3,38420802,38420802,Missense_Mutation,SNP,G,T,c.(1258-1260)agG>agT,130,253,0,161
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NBEAL2,23218,3,47041433,47041433,Missense_Mutation,SNP,G,A,c.(3844-3846)Gct>Act,10,117,0,43
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,OR5K1,26339,3,98188798,98188798,Silent,SNP,A,C,c.(376-378)atA>atC,41,406,0,199
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,DZIP3,9666,3,108405372,108405372,Silent,SNP,C,T,c.(3088-3090)tcC>tcT,10,269,0,91
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,QTRTD1,79691,3,113784147,113784147,Missense_Mutation,SNP,G,A,c.(43-45)Gga>Aga,33,508,0,159
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PLXNA1,5361,3,126710387,126710387,Missense_Mutation,SNP,C,T,c.(1354-1356)aCg>aTg,31,79,0,26
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,EEFSEC,60678,3,128060253,128060253,Missense_Mutation,SNP,A,G,c.(964-966)Ata>Gta,14,324,0,158
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PLXND1,23129,3,129290385,129290385,Silent,SNP,G,A,c.(3301-3303)tcC>tcT,10,306,0,90
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ZIC1,7545,3,147128528,147128528,Missense_Mutation,SNP,C,T,c.(628-630)gCc>gTc,19,301,0,129
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SERPINI2,5276,3,167183436,167183436,Silent,SNP,C,T,c.(502-504)ggG>ggA,4,72,0,49
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NAALADL2,254827,3,175520853,175520853,Nonsense_Mutation,SNP,G,A,c.(2248-2250)tgG>tgA,12,469,0,235
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PIGG,54872,4,509790,509790,Silent,SNP,A,G,c.(928-930)caA>caG,17,223,0,162
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,GPR125,166647,4,22390542,22390542,Missense_Mutation,SNP,C,T,c.(2752-2754)Gga>Aga,5,112,0,81
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SOD3,6649,4,24801497,24801497,Silent,SNP,C,T,c.(352-354)ttC>ttT,6,610,0,364
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PCDH7,5099,4,31144268,31144268,Silent,SNP,C,T,c.(3565-3567)Ctg>Ttg,43,274,0,162
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TMPRSS11D,9407,4,68703990,68703990,Missense_Mutation,SNP,A,T,c.(373-375)aaT>aaA,7,21,0,45
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,BANK1,55024,4,102751123,102751123,Missense_Mutation,SNP,T,C,c.(229-231)Tct>Cct,12,28,0,102
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CAMK2D,817,4,114376900,114376900,3'UTR,SNP,G,T,,8,58,0,52
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,FAT4,79633,4,126370084,126370084,Nonsense_Mutation,SNP,G,A,c.(7912-7914)tGg>tAg,10,109,0,101
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SCLT1,132320,4,129809861,129809861,Missense_Mutation,SNP,T,G,c.(1975-1977)gaA>gaC,11,95,0,82
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TKTL2,84076,4,164394472,164394472,Missense_Mutation,SNP,T,C,c.(415-417)Act>Gct,32,130,0,134
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CYP4V2,285440,4,187131732,187131732,Missense_Mutation,SNP,G,T,c.(1513-1515)ttG>ttT,49,82,0,141
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,KIAA0947,0,5,5466539,5466539,Missense_Mutation,SNP,G,C,c.(5983-5985)agG>agC,16,85,0,104
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SRD5A1,6715,5,6651983,6651983,Missense_Mutation,SNP,G,A,c.(322-324)Gga>Aga,10,64,0,48
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ARHGEF28,64283,5,73069766,73069766,Missense_Mutation,SNP,G,A,c.(562-564)Gga>Aga,15,253,0,111
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PCDHA6,56142,5,140207694,140207694,Silent,SNP,G,A,c.(16-18)gaG>gaA,27,161,0,58
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CSF1R,1436,5,149460372,149460372,Missense_Mutation,SNP,C,G,c.(265-267)Gac>Cac,97,268,0,159
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CSF1R,1436,5,149460571,149460571,Silent,SNP,C,T,c.(64-66)gtG>gtA,45,244,0,110
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CAMK2A,815,5,149630343,149630343,Missense_Mutation,SNP,G,A,c.(724-726)Ccg>Tcg,34,255,0,94
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,GALNT10,55568,5,153570549,153570549,Silent,SNP,G,A,c.(121-123)ggG>ggA,9,69,0,100
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TSPAN17,26262,5,176084557,176084557,Missense_Mutation,SNP,C,T,c.(787-789)aCg>aTg,6,406,0,152
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,RREB1,6239,6,7230299,7230299,Missense_Mutation,SNP,G,A,c.(1966-1968)gGg>gAg,15,94,0,57
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,BMP6,654,6,7861767,7861767,Missense_Mutation,SNP,G,T,c.(940-942)aGc>aTc,32,149,0,121
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,BMP6,654,6,7861768,7861768,Silent,SNP,C,T,c.(940-942)agC>agT,33,149,0,121
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MDC1,9656,6,30673482,30673482,Missense_Mutation,SNP,G,T,c.(3478-3480)Cca>Aca,7,195,0,88
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,HLA-DMB,3109,6,32906734,32906734,Missense_Mutation,SNP,C,T,c.(64-66)Gtg>Atg,13,71,0,38
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,COL11A2,1302,6,33134544,33134544,Missense_Mutation,SNP,G,A,c.(4033-4035)Cgg>Tgg,158,837,0,305
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PTCHD4,442213,6,47846854,47846854,Nonsense_Mutation,SNP,G,A,c.(1726-1728)Caa>Taa,50,99,0,114
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,DST,667,6,56426987,56426987,Silent,SNP,A,G,c.(13384-13386)Tta>Cta,4,50,0,99
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PRDM13,59336,6,100061801,100061801,Silent,SNP,C,T,c.(1288-1290)ccC>ccT,8,191,0,104
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,AIM1,202,6,106959487,106959487,5'Flank,SNP,T,A,,6,147,0,108
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SYNE1,23345,6,152708300,152708300,Silent,SNP,C,T,c.(8392-8394)agG>agA,49,476,0,238
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ZNF12,7559,7,6731830,6731830,Missense_Mutation,SNP,A,T,c.(742-744)aTa>aAa,9,141,0,98
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SCIN,85477,7,12617766,12617766,Missense_Mutation,SNP,C,A,c.(277-279)Cca>Aca,5,103,0,95
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TSPAN13,27075,7,16815842,16815842,Missense_Mutation,SNP,A,T,c.(70-72)Agt>Tgt,6,173,0,43
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SP8,221833,7,20823908,20823908,3'UTR,SNP,G,A,,10,237,0,78
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,DNAH11,8701,7,21744075,21744075,Missense_Mutation,SNP,T,A,c.(6295-6297)gaT>gaA,25,764,0,149
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,RAPGEF5,9771,7,22200170,22200170,Missense_Mutation,SNP,C,G,c.(583-585)Gaa>Caa,7,84,0,49
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,HIBADH,11112,7,27689192,27689192,Missense_Mutation,SNP,C,T,c.(151-153)gGg>gAg,72,138,0,73
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SFRP4,6424,7,37955828,37955828,Silent,SNP,C,T,c.(310-312)gcG>gcA,14,766,0,311
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,AMPH,273,7,38505071,38505071,Missense_Mutation,SNP,G,A,c.(745-747)Ccc>Tcc,15,360,0,110
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ABCA13,154664,7,48314935,48314935,Missense_Mutation,SNP,A,C,c.(5671-5673)cAt>cCt,4,175,0,159
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,FIGNL1,63979,7,50514867,50514867,Missense_Mutation,SNP,C,T,c.(118-120)cGc>cAc,23,84,0,93
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PCLO,27445,7,82579658,82579658,Missense_Mutation,SNP,C,T,c.(10246-10248)Gga>Aga,16,202,0,149
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LRCH4,4034,7,100174905,100174905,Missense_Mutation,SNP,C,T,c.(1285-1287)aGg>aAg,23,192,0,90
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,RP11-1220K2.2,0,7,141844744,141844744,Splice_Site,SNP,T,A,c.(1513-1515)ccT>ccA,6,61,0,49
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SSPO,23145,7,149522111,149522111,RNA,SNP,G,A,,10,200,0,76
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NOM1,64434,7,156746908,156746908,Silent,SNP,C,T,c.(1222-1224)tgC>tgT,9,232,0,153
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NRG1,3084,8,31497903,31497903,Missense_Mutation,SNP,G,A,c.(403-405)Gcc>Acc,51,70,0,61
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NRG1,3084,8,32472085,32472085,Intron,SNP,A,T,,6,61,0,50
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SDR16C5,195814,8,57228804,57228804,Missense_Mutation,SNP,G,A,c.(103-105)Cgg>Tgg,98,400,0,232
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TMEM55A,55529,8,92007980,92007980,Silent,SNP,T,A,c.(697-699)ctA>ctT,10,92,0,116
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,VPS13B,157680,8,100493885,100493885,Missense_Mutation,SNP,A,T,c.(3724-3726)aAg>aTg,45,552,0,272
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,GSDMC,56169,8,130765062,130765062,Silent,SNP,G,A,c.(724-726)taC>taT,88,194,0,83
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TG,7038,8,133913640,133913640,Missense_Mutation,SNP,G,A,c.(3475-3477)aGg>aAg,37,543,0,296
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,GPT,2875,8,145730232,145730232,Missense_Mutation,SNP,A,G,c.(331-333)Atc>Gtc,8,893,0,287
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ZNF517,340385,8,146033177,146033177,Silent,SNP,A,C,c.(874-876)acA>acC,8,292,0,156
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CER1,9350,9,14720322,14720322,Silent,SNP,G,A,c.(568-570)tgC>tgT,107,269,0,150
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,IFNA21,3452,9,21166493,21166493,Missense_Mutation,SNP,A,T,c.(118-120)cTc>cAc,8,295,0,279
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LINGO2,158038,9,27949658,27949658,Missense_Mutation,SNP,C,T,c.(1012-1014)Gag>Aag,34,159,0,151
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CD72,971,9,35612885,35612885,Missense_Mutation,SNP,G,C,c.(793-795)tCt>tGt,19,230,0,85
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PRKACG,5568,9,71628422,71628422,Missense_Mutation,SNP,G,C,c.(586-588)aCt>aGt,83,470,0,211
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TJP2,9414,9,71836272,71836272,Missense_Mutation,SNP,G,A,c.(811-813)cGc>cAc,130,306,0,183
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,DAPK1,1612,9,90321091,90321091,Silent,SNP,G,T,c.(3103-3105)ctG>ctT,13,278,0,65
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,DAPK1,1612,9,90321093,90321093,Missense_Mutation,SNP,A,G,c.(3106-3108)gAc>gGc,13,279,0,67
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ZNF462,58499,9,109691929,109691929,Missense_Mutation,SNP,C,G,c.(5734-5736)aaC>aaG,59,221,0,122
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,COL27A1,85301,9,117072920,117072920,Missense_Mutation,SNP,C,T,c.(5527-5529)cCt>cTt,55,422,0,173
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,OR1L4,254973,9,125486514,125486514,Missense_Mutation,SNP,G,A,c.(244-246)atG>atA,45,495,0,221
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,WDR34,89891,9,131403175,131403175,Missense_Mutation,SNP,G,A,c.(229-231)gCc>gTc,33,82,0,41
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LAMC3,10319,9,133927947,133927947,Missense_Mutation,SNP,G,A,c.(1699-1701)gGg>gAg,37,471,0,85
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,COL5A1,1289,9,137696922,137696922,Intron,SNP,G,T,,72,758,0,200
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,FCN1,2219,9,137801064,137801064,IGR,SNP,C,A,,33,146,0,56
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,OBP2A,29991,9,138439811,138439811,Silent,SNP,C,T,c.(370-372)taC>taT,19,78,0,38
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,EHMT1,79813,9,140671292,140671292,Missense_Mutation,SNP,G,A,c.(2014-2016)Ggc>Agc,10,404,0,136
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CUBN,8029,10,17147557,17147557,Missense_Mutation,SNP,T,A,c.(1129-1131)Acg>Tcg,31,216,0,156
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NEBL,10529,10,21309104,21309104,Missense_Mutation,SNP,G,A,c.(190-192)aCg>aTg,81,376,0,249
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,WDFY4,57705,10,49984884,49984884,Missense_Mutation,SNP,C,T,c.(2953-2955)Ccc>Tcc,26,275,0,115
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LRRC18,474354,10,50122120,50122120,Silent,SNP,A,G,c.(79-81)gaT>gaC,28,198,0,90
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SPOCK2,9806,10,73822642,73822642,Missense_Mutation,SNP,C,T,c.(1150-1152)gGg>gAg,56,501,0,210
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,USP54,159195,10,75280782,75280782,Missense_Mutation,SNP,C,T,c.(2365-2367)aGg>aAg,14,163,0,94
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PRLHR,2834,10,120353762,120353762,Missense_Mutation,SNP,G,A,c.(994-996)cCc>cTc,10,84,0,22
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,DHX32,55760,10,127525401,127525401,Missense_Mutation,SNP,T,G,c.(2086-2088)tAc>tCc,8,61,0,66
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ADAM8,101,10,135086523,135086523,Splice_Site,SNP,C,A,c.(574-576)Gac>Tac,20,197,0,97
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,HRAS,3265,11,534222,534222,Missense_Mutation,SNP,G,A,c.(100-102)cCc>cTc,14,286,0,184
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,DRD4,1815,11,639959,639959,Missense_Mutation,SNP,G,A,c.(709-711)cGa>cAa,36,118,0,119
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,DUSP8,1850,11,1578521,1578521,Missense_Mutation,SNP,C,T,c.(1105-1107)Gca>Aca,27,159,0,105
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,OR51M1,390059,11,5410904,5410904,Silent,SNP,C,T,c.(274-276)acC>acT,8,409,0,153
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PLEKHA7,144100,11,16812684,16812684,Silent,SNP,C,T,c.(2806-2808)ccG>ccA,20,412,0,116
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,KIAA1549L,25758,11,33565002,33565002,Silent,SNP,C,T,c.(1000-1002)tcC>tcT,21,376,0,172
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CD44,960,11,35227695,35227695,Missense_Mutation,SNP,G,A,c.(1318-1320)aGg>aAg,5,82,0,80
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PEX16,9409,11,45935465,45935465,Silent,SNP,C,T,c.(790-792)aaG>aaA,20,259,0,82
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NR1H3,10062,11,47281467,47281467,Missense_Mutation,SNP,G,A,c.(169-171)Ggg>Agg,18,142,0,96
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,OR4C5,79346,11,48387788,48387788,Missense_Mutation,SNP,T,A,c.(229-231)gAc>gTc,48,441,0,302
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,OR8K5,219453,11,55926985,55926985,Missense_Mutation,SNP,G,A,c.(808-810)aCt>aTt,43,102,0,136
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CYB561A3,220002,11,61117056,61117056,3'UTR,SNP,G,A,,16,298,0,132
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MYRF,745,11,61550978,61550978,Missense_Mutation,SNP,C,T,c.(3025-3027)Ctt>Ttt,9,188,0,55
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MALAT1,378938,11,65267327,65267327,lincRNA,SNP,G,T,,4,16,0,23
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,KAT5,10524,11,65480515,65480515,Missense_Mutation,SNP,C,T,c.(271-273)Cca>Tca,51,162,0,115
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CCDC87,55231,11,66359306,66359306,Missense_Mutation,SNP,C,T,c.(1180-1182)cGc>cAc,43,177,0,43
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ARAP1,116985,11,72410585,72410585,Missense_Mutation,SNP,C,T,c.(2314-2316)cGc>cAc,50,211,0,99
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,UVRAG,7405,11,75826968,75826968,Splice_Site,SNP,C,A,c.(1306-1308)Cta>Ata,21,185,0,144
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,RP11-672A2.1,0,11,76427630,76427630,lincRNA,SNP,G,A,,37,155,0,52
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MYO7A,4647,11,76867786,76867786,Missense_Mutation,SNP,G,T,c.(550-552)tGg>tTg,16,246,0,124
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CWF19L2,143884,11,107313759,107313759,Nonsense_Mutation,SNP,C,T,c.(355-357)tGg>tAg,6,168,0,143
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TTC12,54970,11,113222926,113222926,Silent,SNP,C,T,c.(1441-1443)ctC>ctT,85,466,0,299
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MFRP,83552,11,119213627,119213627,Missense_Mutation,SNP,C,G,c.(1210-1212)aGt>aCt,55,620,0,283
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,GRIK4,2900,11,120742215,120742215,Intron,SNP,C,T,,13,59,0,13
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,GRAMD1B,57476,11,123490087,123490087,Intron,SNP,G,T,,11,84,0,58
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,OR4D5,219875,11,123810539,123810539,Silent,SNP,C,T,c.(214-216)tgC>tgT,7,102,0,35
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,Unknown,0,11,124029156,124029156,IGR,SNP,T,C,,14,167,1,64
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LPCAT3,10162,12,7083864,7083864,IGR,SNP,C,A,,7,143,0,70
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TAS2R42,353164,12,11338612,11338612,Missense_Mutation,SNP,G,A,c.(931-933)gCt>gTt,9,71,0,31
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PIK3C2G,5288,12,18435412,18435412,Missense_Mutation,SNP,C,T,c.(397-399)Cat>Tat,31,258,0,179
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,C12orf77,196415,12,25148936,25148936,Missense_Mutation,SNP,G,A,c.(211-213)aCg>aTg,46,326,0,160
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LRRK2,120892,12,40619062,40619062,Silent,SNP,G,T,c.(127-129)ctG>ctT,96,237,0,261
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CNTN1,1272,12,41353008,41353008,Silent,SNP,T,C,c.(1774-1776)tcT>tcC,15,354,0,212
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SLC38A1,81539,12,46592405,46592405,Intron,SNP,C,A,,17,46,0,38
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,KMT2D,8085,12,49427399,49427399,Missense_Mutation,SNP,C,G,c.(11089-11091)Ggg>Cgg,14,232,0,76
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,KMT2D,8085,12,49446775,49446775,Silent,SNP,G,T,c.(1033-1035)ctC>ctA,46,155,1,119
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,METTL7B,196410,12,56075698,56075698,Missense_Mutation,SNP,A,C,c.(160-162)Aag>Cag,20,280,1,139
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,XPOT,11260,12,64841907,64841907,Missense_Mutation,SNP,C,T,c.(2884-2886)cCc>cTc,18,88,0,101
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MSRB3,253827,12,65847526,65847526,Missense_Mutation,SNP,A,G,c.(331-333)gAt>gGt,51,390,0,215
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CDK17,5128,12,96692692,96692692,Silent,SNP,G,T,c.(670-672)Cga>Aga,10,95,0,122
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PAH,5053,12,103288602,103288602,Missense_Mutation,SNP,A,G,c.(262-264)cTg>cCg,27,298,0,145
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PAH,5053,12,103288603,103288603,Missense_Mutation,SNP,G,T,c.(262-264)Ctg>Atg,26,300,0,146
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MVK,4598,12,110019279,110019279,Missense_Mutation,SNP,G,T,c.(451-453)Gtg>Ttg,436,928,0,388
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TBX5,6910,12,114803893,114803893,Intron,SNP,C,T,,21,209,1,113
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MED13L,23389,12,116420294,116420294,Silent,SNP,C,T,c.(5068-5070)gaG>gaA,46,576,0,300
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CCDC64,92558,12,120502616,120502616,Missense_Mutation,SNP,G,A,c.(841-843)gGg>gAg,26,239,0,129
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,RILPL2,196383,12,123915089,123915089,Missense_Mutation,SNP,G,T,c.(457-459)Ctg>Atg,40,189,0,86
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TMEM132C,92293,12,128900132,128900132,Missense_Mutation,SNP,C,T,c.(940-942)tCg>tTg,74,90,0,35
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PIWIL1,9271,12,130827536,130827536,Splice_Site,SNP,G,T,c.(79-81)aGt>aTt,107,212,0,126
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TDRD3,81550,13,61141760,61141760,Silent,SNP,C,G,c.(1939-1941)ccC>ccG,5,168,0,150
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LMO7,4008,13,76379743,76379743,Missense_Mutation,SNP,A,T,c.(343-345)gAt>gTt,52,456,0,172
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LMO7,4008,13,76382052,76382052,Missense_Mutation,SNP,G,A,c.(934-936)Gaa>Aaa,218,181,0,130
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MYCBP2,23077,13,77745773,77745773,Intron,SNP,T,C,,39,67,0,53
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SCEL,8796,13,78216906,78216906,Missense_Mutation,SNP,G,T,c.(2011-2013)caG>caT,4,70,0,49
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SLITRK5,26050,13,88328491,88328491,Missense_Mutation,SNP,T,A,c.(847-849)cTt>cAt,30,182,0,95
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,RASA3,22821,13,114783666,114783666,Silent,SNP,G,A,c.(1003-1005)gcC>gcT,46,165,0,99
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,RPGRIP1,57096,14,21819311,21819311,Missense_Mutation,SNP,C,T,c.(3796-3798)tCc>tTc,23,118,0,69
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SUPT16H,11198,14,21820969,21820969,Missense_Mutation,SNP,C,G,c.(3007-3009)Gaa>Caa,68,245,0,126
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,DTD2,112487,14,31926599,31926599,Start_Codon_SNP,SNP,T,C,c.(1-3)Atg>Gtg,4,47,1,62
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NPAS3,64067,14,34269673,34269673,Silent,SNP,C,T,c.(2158-2160)ggC>ggT,33,156,0,125
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PLEKHD1,400224,14,69989050,69989050,Silent,SNP,G,A,c.(604-606)gaG>gaA,20,272,0,148
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TTC8,123016,14,89338800,89338800,Intron,SNP,A,T,,77,792,0,255
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SERPINA10,51156,14,94756345,94756345,Missense_Mutation,SNP,G,A,c.(586-588)Cgc>Tgc,152,574,1,296
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,DLK1,8788,14,101200938,101200938,Missense_Mutation,SNP,A,G,c.(856-858)aAg>aGg,12,222,0,82
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,RP11-909M7.3,0,14,101442231,101442231,lincRNA,SNP,C,T,,10,138,0,61
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LTK,4058,15,41804065,41804065,Missense_Mutation,SNP,G,A,c.(607-609)Cgc>Tgc,35,148,0,74
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ZNF106,64397,15,42742143,42742143,Missense_Mutation,SNP,C,T,c.(2257-2259)aGt>aAt,97,128,0,110
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MYO5C,55930,15,52531989,52531989,Missense_Mutation,SNP,C,T,c.(2644-2646)Gtg>Atg,31,52,0,70
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MEGF11,84465,15,66222109,66222109,Silent,SNP,G,A,c.(1519-1521)tcC>tcT,43,313,0,128
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ANP32A,8125,15,69080168,69080168,Missense_Mutation,SNP,T,A,c.(145-147)Aca>Tca,37,181,0,169
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CHD2,1106,15,93515570,93515570,Missense_Mutation,SNP,G,T,c.(2428-2430)Gtg>Ttg,8,27,0,28
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,HBZ,3050,16,204274,204274,Silent,SNP,C,T,c.(304-306)Ctg>Ttg,8,63,0,56
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ARHGDIG,398,16,332120,332120,Intron,SNP,G,A,,16,288,0,66
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LMF1,64788,16,904609,904609,Missense_Mutation,SNP,A,G,c.(1627-1629)Tac>Cac,184,271,0,185
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MAPK8IP3,23162,16,1814169,1814169,Silent,SNP,G,A,c.(2074-2076)ccG>ccA,11,110,0,69
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,RPL3L,6123,16,2003969,2003969,Missense_Mutation,SNP,G,A,c.(184-186)Cgg>Tgg,48,82,0,36
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PRSS21,10942,16,2868968,2868968,Missense_Mutation,SNP,A,T,c.(547-549)gAg>gTg,7,129,0,43
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ITGAM,3684,16,31336847,31336847,Silent,SNP,C,A,c.(2530-2532)cgC>cgA,14,391,0,129
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ITGAM,3684,16,31336848,31336848,Missense_Mutation,SNP,C,G,c.(2533-2535)Ctg>Gtg,14,389,0,127
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CDH8,1006,16,61747829,61747829,Missense_Mutation,SNP,C,T,c.(1570-1572)Gat>Aat,31,135,1,126
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PLEKHG4,25894,16,67314332,67314332,Missense_Mutation,SNP,G,A,c.(385-387)Ggg>Agg,8,141,0,23
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PKD1L2,114780,16,81197273,81197273,RNA,SNP,C,T,,6,389,0,169
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ZNF469,84627,16,88503424,88503424,Silent,SNP,G,A,c.(9460-9462)aaG>aaA,10,122,0,42
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,GAS8,2622,16,90104223,90104223,Nonsense_Mutation,SNP,G,A,c.(976-978)tgG>tgA,24,192,0,103
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NLRP1,22861,17,5436133,5436133,Intron,SNP,C,A,,6,37,0,26
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NLRP1,22861,17,5436134,5436134,Intron,SNP,T,C,,6,37,0,26
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CHD3,1107,17,7807278,7807278,Missense_Mutation,SNP,T,A,c.(3862-3864)gTg>gAg,58,87,0,79
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CTD-2104P17.1,0,17,19533007,19533007,RNA,SNP,C,T,,10,165,0,144
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ALDH3A2,224,17,19552419,19552419,Silent,SNP,C,T,c.(133-135)atC>atT,14,156,0,161
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ALDH3A2,224,17,19559887,19559887,Splice_Site,SNP,G,A,c.(679-681)aGa>aAa,9,259,0,194
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,HNF1B,6928,17,36093549,36093549,Splice_Site,SNP,C,T,c.e3+1,55,421,0,264
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NMT1,4836,17,43175905,43175905,Missense_Mutation,SNP,C,G,c.(868-870)cCc>cGc,30,117,0,60
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,FMNL1,752,17,43311646,43311646,Intron,SNP,G,A,,72,285,0,107
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,HOXB1,3211,17,46607003,46607003,Missense_Mutation,SNP,G,T,c.(811-813)gCc>gAc,16,99,0,33
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NME2,4831,17,49244326,49244326,Intron,SNP,C,T,,25,194,0,321
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,UTP18,51096,17,49362714,49362714,Missense_Mutation,SNP,A,T,c.(1312-1314)cAg>cTg,7,39,0,36
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ANKFN1,162282,17,54230878,54230878,Missense_Mutation,SNP,C,T,c.(7-9)gCg>gTg,17,279,0,141
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MPO,4353,17,56349236,56349236,Missense_Mutation,SNP,G,A,c.(1810-1812)Cgc>Tgc,21,343,0,114
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,10-Mar,162333,17,60865931,60865931,Missense_Mutation,SNP,T,A,c.(118-120)agA>agT,39,236,0,164
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ACE,1636,17,61568752,61568752,Intron,SNP,G,T,,59,562,0,234
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SCN4A,6329,17,62050074,62050074,Missense_Mutation,SNP,T,A,c.(127-129)aAg>aTg,37,390,0,200
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ZACN,353174,17,74076559,74076559,Intron,SNP,A,G,,12,442,0,122
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,AZI1,0,17,79172011,79172011,Silent,SNP,C,T,c.(1372-1374)gaG>gaA,31,339,0,146
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CCDC57,284001,17,80085613,80085613,Missense_Mutation,SNP,C,T,c.(2521-2523)Gga>Aga,22,179,0,58
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,FOXK2,3607,17,80544087,80544087,Intron,SNP,G,A,,12,163,0,46
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,DSC2,1824,18,28650743,28650743,Silent,SNP,G,C,c.(2197-2199)gcC>gcG,28,463,0,265
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ASXL3,80816,18,31320083,31320083,Silent,SNP,G,A,c.(2713-2715)aaG>aaA,5,207,0,104
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ASXL3,80816,18,31325083,31325083,Missense_Mutation,SNP,C,A,c.(5269-5271)aaC>aaA,6,411,0,122
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SIGLEC15,284266,18,43418982,43418982,Missense_Mutation,SNP,C,T,c.(796-798)Ctc>Ttc,40,306,0,160
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MADCAM1,8174,19,497871,497871,Missense_Mutation,SNP,C,T,c.(91-93)Ccg>Tcg,8,74,0,48
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MISP,126353,19,757020,757020,Missense_Mutation,SNP,G,C,c.(73-75)gGa>gCa,24,323,0,74
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MISP,126353,19,757221,757221,Missense_Mutation,SNP,G,T,c.(274-276)tGg>tTg,29,666,0,252
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MISP,126353,19,757245,757245,Missense_Mutation,SNP,G,A,c.(298-300)aGg>aAg,32,850,0,295
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MISP,126353,19,757246,757246,Missense_Mutation,SNP,G,T,c.(298-300)agG>agT,33,845,0,298
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LLfos-48D6.1,0,19,2353043,2353043,RNA,SNP,G,A,,49,316,1,148
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LLfos-48D6.1,0,19,2353127,2353127,RNA,SNP,G,T,,49,404,0,142
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LLfos-48D6.1,0,19,2353135,2353135,RNA,SNP,G,A,,56,377,0,149
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,DOHH,83475,19,3496807,3496807,Silent,SNP,C,G,c.(4-6)gtG>gtC,33,180,0,65
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,C3,718,19,6679131,6679131,Intron,SNP,C,A,,53,544,0,237
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ADAMTS10,81794,19,8651555,8651555,Missense_Mutation,SNP,G,A,c.(2290-2292)Ccc>Tcc,37,472,0,161
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MUC16,94025,19,9067274,9067274,Silent,SNP,G,A,c.(20170-20172)tcC>tcT,32,224,0,67
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ZNF700,90592,19,12060618,12060618,Silent,SNP,G,A,c.(1777-1779)gaG>gaA,9,501,1,314
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,UPF1,5976,19,18961614,18961614,Silent,SNP,G,A,c.(745-747)caG>caA,21,221,0,100
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ZNF43,7594,19,21992126,21992126,Missense_Mutation,SNP,A,G,c.(712-714)gTc>gCc,6,192,0,100
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ZNF257,113835,19,22271270,22271270,Missense_Mutation,SNP,C,T,c.(718-720)Cgg>Tgg,87,154,0,148
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,RYR1,6261,19,39005687,39005687,Missense_Mutation,SNP,G,T,c.(9493-9495)tGc>tTc,41,421,0,289
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,RYR1,6261,19,39071143,39071143,Splice_Site,SNP,C,T,c.(14644-14646)aCg>aTg,21,531,0,265
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,FCGBP,8857,19,40411759,40411759,Missense_Mutation,SNP,C,T,c.(3868-3870)cGg>cAg,404,653,0,501
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MEGF8,1954,19,42840242,42840242,Missense_Mutation,SNP,G,A,c.(988-990)Ggg>Agg,31,292,0,88
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,KLC3,147700,19,45854245,45854245,Silent,SNP,C,T,c.(1411-1413)aaC>aaT,64,138,0,102
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,GRIN2D,2906,19,48919364,48919364,Missense_Mutation,SNP,G,A,c.(1687-1689)Gtc>Atc,54,264,0,164
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CPT1C,126129,19,50209636,50209636,Missense_Mutation,SNP,G,A,c.(1309-1311)Gcc>Acc,35,140,0,122
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,C19orf81,342918,19,51161353,51161353,Silent,SNP,C,T,c.(367-369)aaC>aaT,12,172,0,94
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,GPR32,2854,19,51274883,51274883,Silent,SNP,G,A,c.(1024-1026)gaG>gaA,15,155,0,58
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,KLK9,284366,19,51509929,51509929,Missense_Mutation,SNP,G,A,c.(250-252)cCg>cTg,26,43,0,43
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SIGLEC8,27181,19,51955642,51955642,Silent,SNP,G,A,c.(1489-1491)gtC>gtT,5,37,0,33
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PRKCG,5582,19,54395883,54395883,Silent,SNP,G,A,c.(805-807)gcG>gcA,9,319,0,104
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LILRA4,23547,19,54845210,54845210,Missense_Mutation,SNP,G,C,c.(1282-1284)Caa>Gaa,76,238,0,77
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ZIK1,284307,19,58101514,58101514,Missense_Mutation,SNP,T,C,c.(334-336)aTt>aCt,5,388,0,158
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MZF1,7593,19,59073898,59073898,Silent,SNP,A,G,c.(1744-1746)ccT>ccC,19,407,1,202
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PAX1,5075,20,21695419,21695419,Missense_Mutation,SNP,G,A,c.(1582-1584)gGc>gAc,53,503,0,203
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PABPC1L,80336,20,43547852,43547852,Silent,SNP,G,A,c.(670-672)agG>agA,33,364,0,149
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CDH22,64405,20,44838977,44838977,Missense_Mutation,SNP,G,A,c.(1255-1257)Cgg>Tgg,6,204,0,93
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NFATC2,4773,20,50092121,50092121,Missense_Mutation,SNP,G,A,c.(1408-1410)cCg>cTg,32,556,0,242
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,VAPB,9217,20,57019695,57019695,3'UTR,SNP,G,A,,92,317,0,132
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,C20orf166-AS1,253868,20,61143611,61143611,RNA,SNP,T,A,,76,692,0,196
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,COL20A1,57642,20,61944258,61944258,Missense_Mutation,SNP,C,T,c.(2047-2049)aCg>aTg,59,208,0,72
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CHRNA4,1137,20,61981279,61981279,Missense_Mutation,SNP,C,T,c.(1483-1485)cGa>cAa,37,127,0,47
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CHRNA4,1137,20,61991013,61991013,Missense_Mutation,SNP,G,A,c.(115-117)Cgg>Tgg,36,405,0,166
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,HELZ2,85441,20,62198708,62198708,Missense_Mutation,SNP,T,A,c.(2002-2004)gAg>gTg,6,637,0,180
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TNFRSF6B,8771,20,62325665,62325665,5'Flank,SNP,A,C,,12,73,0,21
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SIM2,6493,21,38115791,38115791,Missense_Mutation,SNP,A,G,c.(1102-1104)Aaa>Gaa,32,104,0,126
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TRAPPC10,7109,21,45503108,45503108,Silent,SNP,G,A,c.(2161-2163)gaG>gaA,41,453,0,142
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ADARB1,104,21,46591520,46591520,Intron,SNP,T,A,,13,70,0,94
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,LSS,4047,21,47613010,47613010,Intron,SNP,C,T,,26,536,1,387
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,RFPL3,10738,22,32756397,32756397,Missense_Mutation,SNP,G,A,c.(532-534)Ggc>Agc,41,431,0,212
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,EIF3L,51386,22,38247430,38247430,Missense_Mutation,SNP,G,A,c.(226-228)Gcc>Acc,13,230,0,206
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CSNK1E,1454,22,38692605,38692605,Intron,SNP,C,A,,12,128,0,86
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,EP300,2033,22,41558793,41558793,Intron,SNP,A,G,,25,81,1,127
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MXRA5,25878,X,3261864,3261864,Missense_Mutation,SNP,C,T,c.(10-12)cGc>cAc,58,90,0,46
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,Unknown,0,X,24381899,24381899,IGR,SNP,T,C,,16,530,0,73
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,NR0B1,190,X,30326602,30326602,Silent,SNP,G,A,c.(877-879)tcC>tcT,6,543,0,249
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,RBM10,8241,X,47040729,47040729,Missense_Mutation,SNP,A,G,c.(1363-1365)tAt>tGt,49,130,0,44
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PAGE1,8712,X,49454131,49454131,Missense_Mutation,SNP,G,C,c.(307-309)gCg>gGg,12,83,1,63
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,GPRASP1,9737,X,101911993,101911993,Missense_Mutation,SNP,A,T,c.(3151-3153)cAg>cTg,52,148,1,115
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,GPRASP1,9737,X,101911994,101911994,Missense_Mutation,SNP,G,T,c.(3151-3153)caG>caT,53,149,0,118
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,TENM1,10178,X,123519901,123519901,Missense_Mutation,SNP,A,G,c.(5680-5682)cTc>cCc,17,48,0,20
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PDZD4,57595,X,153069484,153069484,Missense_Mutation,SNP,C,T,c.(1633-1635)cGc>cAc,163,110,0,72
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ZNF281,23528,1,200378558,200378559,Frame_Shift_Ins,INS,-,G,c.(274-276)cctfs,47,63,,
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CLIP4,79745,2,29412333,29412334,Intron,INS,-,AATGA,,15,24,,
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,GPR75-ASB3,100302652,2,53941445,53941445,Intron,DEL,G,-,,23,63,,
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,RASA2,5922,3,141231105,141231106,Frame_Shift_Del,DEL,TG,-,c.(232-237)gttgtgfs,11,64,,
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,WWP1,11059,8,87423746,87423748,Intron,DEL,TTA,-,,24,25,,
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,C9orf84,158401,9,114518697,114518697,Frame_Shift_Del,DEL,T,-,c.(577-579)gatfs,12,58,,
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CPN1,1369,10,101835651,101835651,Intron,DEL,T,-,,102,167,,
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,MTNR1B,4544,11,92705596,92705596,Intron,DEL,G,-,,66,126,,
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,CMA1,1215,14,24976528,24976528,Intron,DEL,C,-,,107,186,,
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,FMN1,342184,15,33446402,33446403,Frame_Shift_Ins,INS,-,G,c.(712-714)ccafs,77,370,,
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,VPS35,55737,16,46705885,46705886,Intron,INS,-,T,,35,98,,
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ALOXE3,59344,17,8013794,8013795,Frame_Shift_Ins,INS,-,G,c.(1009-1011)cacfs,31,70,,
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,ELAC2,60528,17,12898035,12898035,Intron,DEL,A,-,,202,372,,
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,DTNA,1837,18,32459486,32459489,Intron,DEL,TTCT,-,,68,108,,
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,SHKBP1,92799,19,41089203,41089203,Intron,DEL,T,-,,19,26,,
RP-1532_PCProject_0411_BLOOD_P_v3_Exome_OnPrem,PLXNA3,55558,X,153699395,153699395,Intron,DEL,C,-,,69,25,,
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,CDK11B,984,1,1580694,1580694,Intron,SNP,A,G,,5,531,1,585
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,EPHA8,2046,1,22923801,22923801,Intron,SNP,T,C,,21,67,1,38
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,PRG4,10216,1,186277926,186277926,Silent,SNP,C,T,c.(3073-3075)acC>acT,12,342,0,344
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,TTN,7273,2,179650716,179650716,Silent,SNP,G,A,c.(2227-2229)gcC>gcT,5,273,0,253
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,SFMBT1,51460,3,52946624,52946624,Missense_Mutation,SNP,G,A,c.(1660-1662)Cgt>Tgt,5,214,1,179
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,FLNB,2317,3,58155435,58155435,Silent,SNP,C,T,c.(7534-7536)gcC>gcT,9,403,0,231
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,KIAA1524,57650,3,108288412,108288412,Missense_Mutation,SNP,G,A,c.(937-939)Cgc>Tgc,7,219,0,260
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,FRAS1,80144,4,79367881,79367881,Splice_Site,SNP,A,G,c.(5857-5859)Agg>Ggg,9,179,0,190
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,LEF1,51176,4,109088894,109088894,Silent,SNP,G,A,c.(28-30)ggC>ggT,4,116,0,95
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,ZNF827,152485,4,146744684,146744684,Intron,SNP,T,G,,26,29,1,125
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,GRIA1,2890,5,153078593,153078593,Missense_Mutation,SNP,C,T,c.(1411-1413)aCg>aTg,9,466,0,295
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,PDGFRL,5157,8,17447184,17447184,Missense_Mutation,SNP,C,T,c.(262-264)gCg>gTg,11,340,0,152
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,UNC5D,137970,8,35579823,35579823,Missense_Mutation,SNP,C,T,c.(1213-1215)Cgg>Tgg,6,157,1,192
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,KAT6A,7994,8,41798354,41798354,Intron,SNP,C,T,,4,106,0,73
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,TRPS1,7227,8,116631724,116631724,Missense_Mutation,SNP,G,T,c.(562-564)Caa>Aaa,16,224,1,172
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,TRAPPC9,83696,8,140744344,140744344,Missense_Mutation,SNP,G,A,c.(3157-3159)Cgc>Tgc,5,260,0,235
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,C9orf64,84267,9,86570360,86570360,Missense_Mutation,SNP,G,A,c.(532-534)gCg>gTg,5,229,0,170
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,C11orf91,100131378,11,33722053,33722053,Silent,SNP,T,G,c.(232-234)ccA>ccC,6,11,0,29
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,C11orf91,100131378,11,33722062,33722062,Silent,SNP,C,G,c.(223-225)ccG>ccC,4,17,1,27
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,OR4C12,283093,11,50003944,50003944,Missense_Mutation,SNP,G,A,c.(94-96)Ctt>Ttt,6,186,0,125
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,SART1,9092,11,65746292,65746292,Missense_Mutation,SNP,C,T,c.(2290-2292)aCg>aTg,5,169,0,166
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,MRGPRF,116535,11,68773449,68773449,Missense_Mutation,SNP,G,A,c.(328-330)aCg>aTg,4,142,0,122
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,FAT3,120114,11,92532066,92532066,Missense_Mutation,SNP,T,A,c.(5887-5889)Tac>Aac,6,153,0,86
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,STAT6,6778,12,57501377,57501377,Intron,SNP,T,C,,12,48,0,47
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,TMEM19,55266,12,72091142,72091142,Silent,SNP,C,T,c.(463-465)ggC>ggT,6,181,1,179
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,WDR93,56964,15,90245034,90245034,Silent,SNP,A,T,c.(55-57)cgA>cgT,6,126,0,100
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,C16orf62,57020,16,19590426,19590426,Silent,SNP,G,A,c.(484-486)ctG>ctA,5,87,1,59
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,TP53,7157,17,7577557,7577557,Missense_Mutation,SNP,A,G,c.(724-726)Tgc>Cgc,9,231,0,201
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,SLFN14,342618,17,33876074,33876074,Missense_Mutation,SNP,T,A,c.(1921-1923)caA>caT,7,106,0,60
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,AATK-AS1,388428,17,79152754,79152754,RNA,SNP,C,A,,3,31,0,20
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,LAMA1,284217,18,7002254,7002254,Intron,SNP,G,A,,6,336,0,200
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,ZNF208,7757,19,22156811,22156811,Missense_Mutation,SNP,T,C,c.(1024-1026)aAa>aGa,5,230,0,189
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,ZNF780A,284323,19,40581109,40581109,Missense_Mutation,SNP,T,C,c.(1240-1242)Ata>Gta,6,163,0,138
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,PPP1R12C,54776,19,55604147,55604147,Intron,SNP,T,C,,9,55,0,73
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,PTPRT,11122,20,41100975,41100975,Nonsense_Mutation,SNP,G,A,c.(1381-1383)Cga>Tga,6,352,0,205
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,TTC3,7267,21,38564423,38564423,Missense_Mutation,SNP,A,G,c.(5125-5127)gAa>gGa,3,35,0,26
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,SMC1A,8243,X,53409470,53409470,Missense_Mutation,SNP,A,G,c.(3241-3243)aTt>aCt,11,91,1,67
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,KRTAP2-2,728279,17,39211049,39211050,3'UTR,INS,-,GCAGGGGGGCCGGCA,,15,12,,
RP-1532_PCProject_0413_BLOOD_P_v1_Exome_OnPrem,TBX1,6899,22,19748464,19748465,Frame_Shift_Ins,INS,-,G,c.(70-75)gcggggfs,3,2,,
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,C1orf170,0,1,915629,915629,Missense_Mutation,SNP,C,T,c.(439-441)Gtg>Atg,50,245,1,163
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,MEGF6,1953,1,3427413,3427413,Missense_Mutation,SNP,G,T,c.(1168-1170)Cct>Act,14,74,0,97
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,EXOSC10,5394,1,11147519,11147519,Missense_Mutation,SNP,G,C,c.(1075-1077)Cca>Gca,21,92,0,77
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,AGO1,26523,1,36383288,36383288,Missense_Mutation,SNP,G,A,c.(2122-2124)cGc>cAc,15,45,0,67
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,AGL,178,1,100340333,100340333,Missense_Mutation,SNP,T,C,c.(1048-1050)aTg>aCg,36,121,0,124
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,GATAD2B,57459,1,153800796,153800796,Missense_Mutation,SNP,G,A,c.(28-30)Cgc>Tgc,44,262,0,75
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,INSRR,3645,1,156823661,156823661,Missense_Mutation,SNP,C,T,c.(520-522)Gag>Aag,15,154,0,137
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,FCRL2,79368,1,157739841,157739841,Missense_Mutation,SNP,A,C,c.(409-411)tTg>tGg,109,173,0,207
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,FCRL1,115350,1,157773843,157773843,Silent,SNP,C,T,c.(109-111)acG>acA,52,215,0,135
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,SPTA1,6708,1,158637736,158637736,Silent,SNP,A,C,c.(1948-1950)ggT>ggG,235,287,0,241
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,VSIG8,391123,1,159828575,159828575,Missense_Mutation,SNP,G,T,c.(175-177)gaC>gaA,18,108,0,97
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,PAPPA2,60676,1,176525697,176525697,Missense_Mutation,SNP,G,A,c.(238-240)aGg>aAg,27,187,0,123
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,FAM163A,148753,1,179782320,179782320,Missense_Mutation,SNP,C,T,c.(88-90)Ctc>Ttc,13,110,0,108
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,KIAA1614,57710,1,180905697,180905697,Silent,SNP,C,T,c.(2650-2652)agC>agT,9,109,0,70
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,PPFIA4,8497,1,203014997,203014997,Missense_Mutation,SNP,A,G,c.(886-888)gAg>gGg,49,256,0,138
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,DISP1,84976,1,223176180,223176180,Missense_Mutation,SNP,G,A,c.(1441-1443)Gtg>Atg,151,200,0,228
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,RYR2,6262,1,237801656,237801656,Splice_Site,SNP,G,T,c.e45-1,47,312,0,140
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,EFCAB2,84288,1,245133651,245133651,Missense_Mutation,SNP,C,G,c.(226-228)gCt>gGt,15,90,0,222
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,PQLC3,130814,2,11312154,11312154,Missense_Mutation,SNP,C,T,c.(457-459)tCt>tTt,44,158,0,118
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,GALNT14,79623,2,31189073,31189073,Missense_Mutation,SNP,C,T,c.(394-396)cGc>cAc,55,128,0,62
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,VPS54,51542,2,64208973,64208973,Missense_Mutation,SNP,T,A,c.(184-186)cAt>cTt,61,81,0,88
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,EMX1,2016,2,73145392,73145392,Silent,SNP,C,A,c.(409-411)ggC>ggA,26,45,0,102
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,ALMS1,7840,2,73659424,73659424,Intron,SNP,G,C,,64,204,0,176
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,DGUOK,1716,2,74185372,74185372,Splice_Site,SNP,G,A,c.(805-807)gaG>gaA,29,268,0,187
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,CLASP1,23332,2,122182873,122182873,Missense_Mutation,SNP,C,T,c.(2053-2055)cGg>cAg,33,165,0,141
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,AC114783.1,0,2,127657104,127657104,Missense_Mutation,SNP,A,G,c.(226-228)Aca>Gca,8,30,0,26
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,SMPD4,55627,2,130913677,130913677,Missense_Mutation,SNP,G,T,c.(1336-1338)cCg>cAg,25,85,0,77
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,LRP2,4036,2,170127535,170127535,Missense_Mutation,SNP,C,T,c.(2197-2199)atG>atA,57,201,0,175
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,WDR12,55759,2,203762050,203762050,Missense_Mutation,SNP,C,T,c.(427-429)Gta>Ata,21,71,0,57
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,ERBB4,2066,2,212812153,212812153,Splice_Site,SNP,A,G,c.e3+1,17,59,0,93
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,KIF1A,547,2,241686707,241686707,Silent,SNP,G,A,c.(2704-2706)ggC>ggT,8,43,0,49
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,TOP2B,7155,3,25668330,25668330,Missense_Mutation,SNP,T,A,c.(2041-2043)gAc>gTc,21,127,0,90
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,DOCK3,1795,3,51198027,51198027,Missense_Mutation,SNP,C,A,c.(931-933)Ctg>Atg,35,51,0,66
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,CBLB,868,3,105377924,105377924,Missense_Mutation,SNP,C,T,c.(2839-2841)Gaa>Aaa,58,367,0,267
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,C3orf17,25871,3,112724559,112724559,Missense_Mutation,SNP,C,G,c.(1528-1530)Gga>Cga,81,247,0,194
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,CPA3,1359,3,148599357,148599357,Nonsense_Mutation,SNP,C,T,c.(625-627)Cga>Tga,9,81,0,56
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,TNIK,23043,3,170875262,170875262,Missense_Mutation,SNP,C,T,c.(1207-1209)cGg>cAg,34,216,0,188
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,TNIK,23043,3,170875399,170875399,Silent,SNP,C,G,c.(1069-1071)ctG>ctC,52,345,0,301
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,LYAR,55646,4,4276130,4276130,Missense_Mutation,SNP,C,T,c.(796-798)Gtg>Atg,27,137,0,72
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,ABLIM2,84448,4,7994645,7994645,Missense_Mutation,SNP,T,C,c.(1525-1527)tAt>tGt,19,101,0,99
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,SLC9A3,6550,5,492083,492083,Silent,SNP,G,A,c.(313-315)atC>atT,4,54,0,37
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,SLC6A3,6531,5,1401103,1401103,Splice_Site,SNP,T,G,c.e14-2,108,711,0,249
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,CMYA5,202333,5,79026833,79026833,Missense_Mutation,SNP,G,A,c.(2245-2247)Gct>Act,25,70,0,79
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,GTF2IRD2P1,401375,7,72658807,72658807,RNA,SNP,G,A,,27,156,0,228
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,CACNA2D1,781,7,81599271,81599271,Missense_Mutation,SNP,T,A,c.(2269-2271)gAg>gTg,15,126,0,140
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,SAMD9L,219285,7,92762276,92762276,Silent,SNP,G,A,c.(3007-3009)agC>agT,21,38,0,34
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,ZNF746,155061,7,149172196,149172196,Missense_Mutation,SNP,G,A,c.(1213-1215)cCg>cTg,15,54,0,46
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,KMT2C,58508,7,151836817,151836817,Silent,SNP,G,A,c.(14401-14403)atC>atT,21,40,0,81
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,PTPRN2,5799,7,157396700,157396700,Missense_Mutation,SNP,G,T,c.(2410-2412)agC>agA,10,102,0,110
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,GFRA2,2675,8,21550894,21550894,Missense_Mutation,SNP,G,T,c.(1291-1293)Cca>Aca,12,89,0,63
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,ADAM9,8754,8,38961682,38961682,3'UTR,SNP,T,C,,9,40,0,47
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,UQCRB,7381,8,97241672,97241672,3'UTR,SNP,A,C,,10,357,0,187
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,ANKRD46,157567,8,101540207,101540207,Missense_Mutation,SNP,T,A,c.(334-336)ttA>ttT,22,304,1,83
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,PKHD1L1,93035,8,110463224,110463224,Missense_Mutation,SNP,T,A,c.(6196-6198)Tgt>Agt,5,78,0,27
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,FER1L6,654463,8,125072425,125072425,Missense_Mutation,SNP,C,T,c.(2878-2880)cCt>cTt,6,381,0,116
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,NDRG1,10397,8,134251232,134251232,Missense_Mutation,SNP,C,A,c.(1072-1074)gaG>gaT,5,206,0,120
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,CTD-3064M3.7,0,8,142446786,142446786,RNA,SNP,G,A,,6,68,0,29
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,CTD-3064M3.7,0,8,142450392,142450392,RNA,SNP,G,A,,52,730,0,228
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,GSDMD,79792,8,144640598,144640598,5'UTR,SNP,A,C,,5,84,0,72
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,GSDMD,79792,8,144640603,144640603,5'UTR,SNP,C,G,,4,76,0,68
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,PLEC,5339,8,144999229,144999229,Missense_Mutation,SNP,G,A,c.(5278-5280)gCg>gTg,44,451,0,262
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,FREM1,158326,9,14748579,14748579,Silent,SNP,G,A,c.(5614-5616)ggC>ggT,8,105,0,75
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,FAM122A,116224,9,71395647,71395647,Silent,SNP,C,T,c.(565-567)agC>agT,32,80,0,100
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,VPS13A,23230,9,79933230,79933230,Missense_Mutation,SNP,C,T,c.(5035-5037)aCg>aTg,9,33,0,41
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,HNRNPK,3190,9,86584279,86584279,Missense_Mutation,SNP,C,T,c.(1378-1380)Gga>Aga,13,58,0,101
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,GTF3C5,9328,9,135933323,135933323,Missense_Mutation,SNP,G,A,c.(1516-1518)Ggc>Agc,33,156,0,124
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,COL5A1,1289,9,137623359,137623359,Silent,SNP,G,A,c.(1180-1182)ggG>ggA,35,375,0,205
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,SEC16A,9919,9,139348640,139348640,Silent,SNP,G,A,c.(5461-5463)tcC>tcT,15,84,0,74
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,AKR1E2,83592,10,4882023,4882023,Intron,SNP,G,T,,10,271,0,107
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,USP54,159195,10,75305383,75305383,Silent,SNP,A,G,c.(286-288)tcT>tcC,14,88,0,62
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,PDE6C,5146,10,95394544,95394544,Silent,SNP,C,T,c.(1147-1149)gtC>gtT,35,140,0,146
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,HELLS,3070,10,96354524,96354524,Missense_Mutation,SNP,C,T,c.(2161-2163)Cgc>Tgc,8,68,0,62
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,SORCS1,114815,10,108439101,108439101,Intron,SNP,A,T,,10,33,0,39
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,NUP98,4928,11,3789935,3789935,Missense_Mutation,SNP,C,A,c.(823-825)gGc>gTc,4,67,0,61
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,RIC3,79608,11,8132471,8132471,Missense_Mutation,SNP,G,A,c.(883-885)tCg>tTg,33,147,0,85
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,SERGEF,26297,11,18022076,18022076,Missense_Mutation,SNP,G,T,c.(475-477)gCt>gAt,9,60,0,61
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,TCN1,6947,11,59622203,59622203,Missense_Mutation,SNP,G,T,c.(1042-1044)aCc>aAc,37,150,0,163
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,ATG2A,23130,11,64675084,64675084,Missense_Mutation,SNP,C,G,c.(2560-2562)Gac>Cac,13,86,1,40
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,NUMA1,4926,11,71734154,71734154,Missense_Mutation,SNP,G,C,c.(247-249)tCt>tGt,21,119,0,109
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,LRRC32,2615,11,76370682,76370682,Missense_Mutation,SNP,C,T,c.(1954-1956)cGc>cAc,22,90,0,60
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,MRE11A,4361,11,94199711,94199711,Intron,SNP,G,A,,3,36,0,49
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,OR10G4,390264,11,123886342,123886342,Silent,SNP,C,T,c.(61-63)Ctg>Ttg,27,146,0,127
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,TMEM19,55266,12,72091076,72091076,Nonsense_Mutation,SNP,G,A,c.(397-399)tgG>tgA,22,119,0,179
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,SYCP3,50511,12,102127342,102127342,Intron,SNP,A,G,,7,32,0,64
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,PRKAB1,5564,12,120106093,120106093,Missense_Mutation,SNP,G,T,c.(43-45)gGt>gTt,24,54,0,136
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,HIP1R,9026,12,123335208,123335208,Intron,SNP,G,T,,4,18,0,13
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,LRCH1,23143,13,47324784,47324784,Silent,SNP,G,A,c.(2089-2091)tGa>tAa,16,45,0,56
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,MYO16,23026,13,109777586,109777586,Missense_Mutation,SNP,T,A,c.(3595-3597)cTg>cAg,98,371,0,281
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,PSMA6,5687,14,35777233,35777233,Missense_Mutation,SNP,T,C,c.(109-111)cTt>cCt,19,93,0,123
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,PSMA6,5687,14,35777234,35777234,Silent,SNP,T,C,c.(109-111)ctT>ctC,19,94,0,123
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,TTC6,319089,14,38218498,38218498,Silent,SNP,T,G,c.(2716-2718)acT>acG,4,27,0,20
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,INF2,64423,14,105175018,105175018,Missense_Mutation,SNP,T,A,c.(1897-1899)cTc>cAc,11,186,0,124
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,INF2,64423,14,105175019,105175019,Silent,SNP,C,A,c.(1897-1899)ctC>ctA,12,187,0,123
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,IGHV4-31,28396,14,106805231,106805231,RNA,SNP,G,A,,13,287,0,225
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,FBN1,2200,15,48737626,48737626,Missense_Mutation,SNP,T,C,c.(5863-5865)cAg>cGg,13,290,0,314
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,ALDH1A3,220,15,101420243,101420243,Intron,SNP,G,A,,3,29,0,54
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,RGS11,8786,16,318938,318938,3'UTR,SNP,A,C,,38,272,0,224
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,RGS11,8786,16,318943,318943,3'UTR,SNP,G,A,,39,282,0,214
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,MAPK8IP3,23162,16,1816093,1816093,Missense_Mutation,SNP,G,A,c.(2575-2577)cGg>cAg,42,167,0,92
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,SHISA9,729993,16,13002421,13002421,Intron,SNP,C,G,,33,175,0,112
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,PLK1,5347,16,23690389,23690389,Missense_Mutation,SNP,G,A,c.(136-138)Gac>Aac,9,69,0,135
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,MYLK3,91807,16,46781692,46781692,Silent,SNP,C,T,c.(412-414)gcG>gcA,30,189,0,146
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,NXN,64359,17,882763,882763,Silent,SNP,G,A,c.(154-156)agC>agT,3,29,0,79
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,TNK1,8711,17,7290727,7290727,Silent,SNP,G,A,c.(1441-1443)gcG>gcA,15,58,0,76
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,CNP,1267,17,40125772,40125772,Missense_Mutation,SNP,G,A,c.(1096-1098)Gag>Aag,14,49,0,41
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,SGCA,6442,17,48249491,48249491,Intron,SNP,C,T,,16,115,0,59
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,BCAS3,54828,17,59445747,59445747,Missense_Mutation,SNP,G,A,c.(2530-2532)Ggg>Agg,34,140,0,74
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,ABCA8,10351,17,66864506,66864506,Intron,SNP,G,T,,25,150,0,106
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,TMC6,11322,17,76118786,76118786,Missense_Mutation,SNP,G,C,c.(1126-1128)tCt>tGt,49,399,0,200
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,PGS1,9489,17,76395445,76395445,Silent,SNP,C,T,c.(526-528)cgC>cgT,79,128,0,58
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,DNAH17,8632,17,76490795,76490795,Silent,SNP,C,T,c.(6133-6135)gcG>gcA,90,194,0,116
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,TMEM105,284186,17,79287679,79287679,Silent,SNP,C,T,c.(160-162)acG>acA,31,316,0,111
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,C17orf70,80233,17,79517952,79517952,Missense_Mutation,SNP,C,T,c.(568-570)Gcc>Acc,77,378,0,123
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,PCYT2,5833,17,79860635,79860635,3'UTR,SNP,C,T,,7,59,0,68
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,FASN,2194,17,80049331,80049331,Missense_Mutation,SNP,A,T,c.(1258-1260)cTg>cAg,7,163,0,120
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,DLGAP1,9229,18,3880077,3880077,5'UTR,SNP,G,A,,36,187,0,137
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,MED16,10025,19,880111,880111,Silent,SNP,G,A,c.(1177-1179)atC>atT,28,142,0,172
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,ADAMTS10,81794,19,8650271,8650271,Intron,SNP,G,A,,10,62,1,67
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,KANK2,25959,19,11303727,11303727,Silent,SNP,G,A,c.(1027-1029)gcC>gcT,11,53,0,51
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,CCDC124,115098,19,18054354,18054354,Missense_Mutation,SNP,C,T,c.(502-504)Cgc>Tgc,17,91,0,127
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,C19orf12,83636,19,30206319,30206319,5'Flank,SNP,G,A,,7,30,0,81
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,ZNF573,126231,19,38262298,38262298,Missense_Mutation,SNP,G,T,c.(106-108)gaC>gaA,4,107,0,90
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,SPTBN4,57731,19,41076608,41076608,Silent,SNP,C,A,c.(7291-7293)ctC>ctA,3,54,0,100
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,PRKD2,25865,19,47217254,47217254,Missense_Mutation,SNP,G,A,c.(244-246)cCt>cTt,13,32,0,67
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,ZNF578,147660,19,53014994,53014994,Missense_Mutation,SNP,T,C,c.(1360-1362)Tct>Cct,4,190,0,102
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,PEG3,5178,19,57327159,57327159,Missense_Mutation,SNP,C,T,c.(2650-2652)gGg>gAg,6,35,0,42
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,ZSCAN1,284312,19,58565052,58565052,Missense_Mutation,SNP,G,C,c.(859-861)cGa>cCa,7,327,0,229
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,GSS,2937,20,33530285,33530285,Intron,SNP,A,C,,9,80,0,70
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,SNORA71D,677840,20,37062529,37062529,RNA,SNP,G,C,,11,300,0,212
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,SREBF2,6721,22,42264756,42264756,Missense_Mutation,SNP,C,T,c.(679-681)aCg>aTg,50,91,0,87
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,AKAP17A,8227,X,1720316,1720316,Silent,SNP,G,A,c.(1915-1917)acG>acA,14,31,0,23
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,IQSEC2,23096,X,53349716,53349716,Silent,SNP,C,A,c.(604-606)cgG>cgT,41,72,0,171
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,VMA21,203547,X,150565454,150565454,Missense_Mutation,SNP,G,C,c.(142-144)tGg>tCg,11,26,0,98
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,GABRQ,55879,X,151819045,151819045,Splice_Site,SNP,T,C,c.e7+2,9,36,0,26
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,ATP2B3,492,X,152815659,152815659,Missense_Mutation,SNP,C,T,c.(1738-1740)Cgc>Tgc,37,121,0,87
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,CASZ1,54897,1,10720387,10720388,Frame_Shift_Ins,INS,-,A,c.(709-714)tctaagfs,25,109,,
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,EIF2AK3,9451,2,88888436,88888437,Intron,INS,-,T,,18,129,,
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,TMEM198,130612,2,220414562,220414564,In_Frame_Del,DEL,CCA,-,c.(1069-1071)ccadel,44,92,,
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,IFT57,55081,3,107882443,107882459,Intron,DEL,AAGTAGGTTTCTTGAAG,-,,28,87,,
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,PIK3R1,5295,5,67591259,67591261,In_Frame_Del,DEL,AAA,-,c.(1756-1761)caaaaa>caa,13,57,,
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,GIN1,54826,5,102433103,102433114,In_Frame_Del,DEL,TCACCATCCACT,-,c.(910-924)gaagtggatggtgat>gat,5,81,,
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,TTC17,55761,11,43411343,43411344,Frame_Shift_Ins,INS,-,A,c.(391-393)tacfs,8,77,,
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,RB1,5925,13,48955454,48955457,Frame_Shift_Del,DEL,AAAG,-,c.(1570-1575)aaagccfs,6,25,,
RP-1532_PCProject_0420_BLOOD_P_v1_Exome_OnPrem,TP53,7157,17,7577058,7577058,Frame_Shift_Del,DEL,C,-,c.(880-882)gagfs,160,218,,
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,CCNL2,81669,1,1325631,1325631,Missense_Mutation,SNP,A,G,c.(985-987)Ttc>Ctc,32,65,0,37
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ARHGEF16,27237,1,3392589,3392589,Missense_Mutation,SNP,A,G,c.(1435-1437)tAc>tGc,25,90,0,46
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,FLG,2312,1,152275726,152275726,Missense_Mutation,SNP,C,A,c.(11635-11637)cGa>cTa,107,608,1,247
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,SMG5,23381,1,156235589,156235589,Missense_Mutation,SNP,T,C,c.(1837-1839)gAc>gGc,38,114,0,37
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,CADM3,57863,1,159169658,159169658,Missense_Mutation,SNP,G,A,c.(1069-1071)cGg>cAg,14,299,0,111
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,OR10J1,26476,1,159410311,159410311,Missense_Mutation,SNP,C,T,c.(763-765)Ctc>Ttc,77,186,0,102
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,EDEM3,80267,1,184692969,184692969,Missense_Mutation,SNP,C,A,c.(769-771)Gat>Tat,21,232,1,142
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,KCNS3,3790,2,18113598,18113598,Missense_Mutation,SNP,G,T,c.(1321-1323)agG>agT,6,219,0,62
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ASXL2,55252,2,25982356,25982356,Nonsense_Mutation,SNP,G,A,c.(934-936)Cga>Tga,29,76,0,43
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ASXL2,55252,2,25994338,25994338,Nonsense_Mutation,SNP,G,A,c.(475-477)Cag>Tag,26,110,0,79
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,PLB1,151056,2,28865914,28865914,Missense_Mutation,SNP,C,T,c.(4363-4365)aCt>aTt,8,139,0,61
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,NLRC4,58484,2,32477588,32477588,Silent,SNP,G,A,c.(160-162)atC>atT,14,524,0,198
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ST6GAL2,84620,2,107450513,107450513,Missense_Mutation,SNP,T,C,c.(1033-1035)Aat>Gat,13,145,0,61
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ATIC,471,2,216211517,216211517,Missense_Mutation,SNP,A,G,c.(1354-1356)atA>atG,27,150,0,122
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,GMPPA,29926,2,220362558,220362558,5'Flank,SNP,G,C,,67,91,0,115
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,CAND2,23066,3,12857413,12857413,Silent,SNP,C,T,c.(1345-1347)agC>agT,7,304,0,82
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,VILL,50853,3,38035819,38035819,Missense_Mutation,SNP,C,T,c.(202-204)gCg>gTg,5,305,0,198
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ROBO2,6092,3,77671578,77671578,Missense_Mutation,SNP,T,C,c.(3754-3756)gTg>gCg,98,255,0,145
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,DCBLD2,131566,3,98538222,98538222,Missense_Mutation,SNP,G,A,c.(910-912)gCg>gTg,40,414,0,213
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ATG3,64422,3,112260741,112260741,Intron,SNP,T,G,,22,53,0,41
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,PIK3CB,5291,3,138374245,138374245,Missense_Mutation,SNP,C,G,c.(3199-3201)Gac>Cac,22,212,0,121
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,SUCNR1,56670,3,151598480,151598480,Missense_Mutation,SNP,T,G,c.(148-150)tTc>tGc,11,153,0,88
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,SLC7A14,57709,3,170201194,170201194,Missense_Mutation,SNP,A,G,c.(1024-1026)Tcg>Ccg,30,466,0,281
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,PDE6B,5158,4,650063,650063,Silent,SNP,C,T,c.(1087-1089)gaC>gaT,17,176,0,83
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,DOK7,285489,4,3495148,3495148,Missense_Mutation,SNP,G,A,c.(1435-1437)Ggc>Agc,30,89,0,41
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,NAIP,4671,5,70308173,70308173,Splice_Site,SNP,A,G,c.e4+1,16,97,0,54
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,CTC-349C3.1,0,5,134573629,134573629,Intron,SNP,G,A,,16,102,0,27
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,PCDHB7,56129,5,140554550,140554550,Missense_Mutation,SNP,T,C,c.(2134-2136)Tgc>Cgc,66,989,0,513
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ABLIM3,22885,5,148637846,148637846,Intron,SNP,T,C,,14,91,0,44
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ATP10B,23120,5,160047791,160047791,Missense_Mutation,SNP,G,A,c.(1978-1980)tCg>tTg,178,272,1,163
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,RNF44,22838,5,175959474,175959474,5'UTR,SNP,C,G,,9,101,0,37
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,BTN3A1,11119,6,26413747,26413747,Missense_Mutation,SNP,C,T,c.(1369-1371)Cct>Tct,9,294,0,134
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ITPR3,3710,6,33655350,33655350,Intron,SNP,T,G,,16,140,1,56
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,DDO,8528,6,110726102,110726102,Silent,SNP,G,A,c.(415-417)gaC>gaT,5,287,0,109
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,IGF2BP3,10643,7,23391045,23391045,Missense_Mutation,SNP,C,T,c.(562-564)Gta>Ata,4,189,0,70
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,EGFR,1956,7,55273137,55273137,Missense_Mutation,SNP,C,T,c.(3460-3462)Cct>Tct,23,412,0,169
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ZNF680,340252,7,63982196,63982196,Silent,SNP,A,G,c.(934-936)caT>caC,15,285,0,121
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,MLXIPL,51085,7,73011615,73011615,Silent,SNP,A,G,c.(1498-1500)ccT>ccC,19,113,1,29
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,CASD1,64921,7,94139524,94139524,Missense_Mutation,SNP,A,G,c.(127-129)tAc>tGc,22,91,0,55
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,SLC13A4,26266,7,135413737,135413737,5'Flank,SNP,T,C,,16,44,0,14
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,TRBV6-9,28598,7,142104378,142104378,RNA,SNP,G,C,,15,217,0,110
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,TNKS,8658,8,9413704,9413704,Silent,SNP,C,T,c.(253-255)gaC>gaT,4,243,0,103
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,PDP1,54704,8,94930057,94930057,5'UTR,SNP,T,A,,47,68,0,84
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,OC90,729330,8,133036797,133036797,Silent,SNP,G,A,c.(1411-1413)ctC>ctT,18,235,0,55
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,TGFBR1,7046,9,101904860,101904860,Missense_Mutation,SNP,A,G,c.(847-849)cAt>cGt,9,197,0,129
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,SPTAN1,6709,9,131346734,131346734,Silent,SNP,C,G,c.(2365-2367)ctC>ctG,17,354,0,93
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,NRP1,8829,10,33491751,33491751,Intron,SNP,C,T,,41,163,0,89
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,PCDH15,65217,10,55566762,55566762,Silent,SNP,G,A,c.(4630-4632)aaC>aaT,17,146,0,86
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,PDE6C,5146,10,95394662,95394662,Missense_Mutation,SNP,G,C,c.(1267-1269)Gag>Cag,23,187,0,125
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,C10orf2,56652,10,102750700,102750700,Missense_Mutation,SNP,T,C,c.(1666-1668)gTc>gCc,23,293,0,168
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,DMBT1,1755,10,124384814,124384814,Missense_Mutation,SNP,C,T,c.(5242-5244)aCg>aTg,77,197,0,146
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,TAF10,6881,11,6633368,6633368,Missense_Mutation,SNP,G,C,c.(52-54)gCc>gGc,3,10,0,20
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ST5,6764,11,8729386,8729386,Missense_Mutation,SNP,G,A,c.(2368-2370)Ccc>Tcc,27,189,0,106
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,MICAL2,9645,11,12263915,12263915,Missense_Mutation,SNP,C,T,c.(2491-2493)cCg>cTg,32,109,0,40
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,DDB1,1642,11,61084010,61084010,Missense_Mutation,SNP,G,A,c.(1255-1257)Cgt>Tgt,32,201,0,122
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,SLCO1B3,28234,12,21028395,21028395,Silent,SNP,T,C,c.(952-954)gtT>gtC,4,126,0,72
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ANO6,196527,12,45833472,45833472,Missense_Mutation,SNP,G,T,c.(2539-2541)ttG>ttT,9,59,0,44
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ANAPC5,51433,12,121764967,121764967,Missense_Mutation,SNP,C,T,c.(1372-1374)Gtg>Atg,45,211,0,121
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,HIP1R,9026,12,123335208,123335208,Intron,SNP,G,T,,5,32,0,9
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,DNAH10,196385,12,124268491,124268491,Intron,SNP,C,T,,6,274,0,76
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ABCC4,10257,13,95863028,95863028,Missense_Mutation,SNP,C,T,c.(538-540)cGt>cAt,29,91,0,62
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,TNFSF13B,10673,13,108922474,108922474,Silent,SNP,C,T,c.(229-231)gcC>gcT,18,273,0,159
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,MYH7,4625,14,23887232,23887232,Intron,SNP,G,A,,36,91,0,57
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,AHSA1,10598,14,77929030,77929030,Missense_Mutation,SNP,G,A,c.(400-402)Gcc>Acc,5,289,0,146
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,CHST14,113189,15,40764143,40764143,Missense_Mutation,SNP,G,C,c.(730-732)cGg>cCg,169,250,0,254
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,UBR1,197131,15,43258364,43258364,Missense_Mutation,SNP,C,G,c.(4576-4578)gaG>gaC,11,249,0,157
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,PDIA3,2923,15,44060716,44060716,Missense_Mutation,SNP,T,C,c.(1057-1059)cTg>cCg,34,40,0,47
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,IL16,3603,15,81565461,81565461,Missense_Mutation,SNP,G,T,c.(706-708)Gac>Tac,9,162,0,96
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,PDE8A,5151,15,85666356,85666356,Missense_Mutation,SNP,C,A,c.(2017-2019)Cac>Aac,33,95,0,64
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,MFGE8,4240,15,89444961,89444961,Missense_Mutation,SNP,C,T,c.(691-693)Gcc>Acc,5,372,0,150
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,PDILT,204474,16,20380862,20380862,Nonsense_Mutation,SNP,G,C,c.(1066-1068)taC>taG,9,350,0,122
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,RBL2,5934,16,53498216,53498216,Missense_Mutation,SNP,C,A,c.(1639-1641)Cct>Act,23,104,0,128
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,RPGRIP1L,23322,16,53656160,53656160,Missense_Mutation,SNP,C,T,c.(3403-3405)Ggg>Agg,7,143,0,55
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,PDPR,55066,16,70187461,70187461,Silent,SNP,G,T,c.(2218-2220)cgG>cgT,8,108,0,59
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,TEKT3,64518,17,15234533,15234533,Missense_Mutation,SNP,T,C,c.(370-372)Aca>Gca,6,412,0,128
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,KRTAP4-9,100132386,17,39261762,39261762,Missense_Mutation,SNP,G,A,c.(121-123)cGc>cAc,77,263,0,220
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,CNTNAP1,8506,17,40837375,40837375,Missense_Mutation,SNP,G,A,c.(652-654)Gcc>Acc,55,308,0,134
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,WNT9B,7484,17,44962395,44962395,Intron,SNP,C,T,,13,84,0,51
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,HOXB3,3213,17,46627718,46627718,Missense_Mutation,SNP,G,A,c.(1273-1275)gCg>gTg,83,257,0,160
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,PRR11,55771,17,57262837,57262837,Missense_Mutation,SNP,C,T,c.(316-318)Cgt>Tgt,30,104,0,49
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,KCNH6,81033,17,61621717,61621717,Missense_Mutation,SNP,T,G,c.(2449-2451)Tgc>Ggc,21,65,0,26
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,TK1,7083,17,76170946,76170946,Missense_Mutation,SNP,G,A,c.(598-600)cCg>cTg,32,187,0,87
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,DUS1L,64118,17,80020836,80020836,Missense_Mutation,SNP,G,T,c.(409-411)caC>caA,69,151,0,56
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,KCTD1,284252,18,24128276,24128276,Intron,SNP,C,G,,4,101,0,54
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,LOXHD1,125336,18,44181423,44181423,Silent,SNP,C,T,c.(55-57)acG>acA,37,237,0,103
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,HNRNPM,4670,19,8553732,8553732,Silent,SNP,C,T,c.(2185-2187)aaC>aaT,7,83,0,47
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ZNF44,51710,19,12359176,12359176,Missense_Mutation,SNP,T,G,c.(538-540)aAa>aCa,11,174,0,77
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,RYR1,6261,19,39075595,39075595,Missense_Mutation,SNP,C,T,c.(14659-14661)Cac>Tac,6,342,0,127
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ZNF837,116412,19,58879674,58879674,Silent,SNP,C,T,c.(1024-1026)ccG>ccA,60,253,0,85
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,RBM39,9584,20,34320027,34320027,Silent,SNP,A,G,c.(130-132)agT>agC,7,425,0,245
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,EYA2,2139,20,45700822,45700822,Splice_Site,SNP,A,T,c.e6-1,9,419,0,139
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ZNF831,128611,20,57767730,57767730,Silent,SNP,C,T,c.(1654-1656)gaC>gaT,14,71,0,31
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,KRTAP24-1,643803,21,31654788,31654788,Missense_Mutation,SNP,G,T,c.(463-465)Ctt>Att,22,89,0,77
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,SYNJ1,8867,21,34100315,34100315,5'Flank,SNP,C,A,,4,89,0,196
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,DONSON,29980,21,34958406,34958406,Nonsense_Mutation,SNP,G,A,c.(484-486)Cga>Tga,43,446,0,259
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,FAM3B,54097,21,42710382,42710382,Missense_Mutation,SNP,G,A,c.(241-243)Gga>Aga,24,316,0,107
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,COL6A1,1291,21,47422551,47422551,Silent,SNP,G,T,c.(2359-2361)tcG>tcT,21,688,0,119
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,DIP2A,23181,21,47987379,47987379,Silent,SNP,G,T,c.(4558-4560)gtG>gtT,9,193,0,128
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ZNRF3,84133,22,29445646,29445646,Missense_Mutation,SNP,C,G,c.(1477-1479)Cgg>Ggg,46,148,0,56
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,TMEM184B,25829,22,38643926,38643926,Silent,SNP,C,T,c.(40-42)tcG>tcA,14,156,0,60
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,POLA1,5422,X,24833119,24833119,Missense_Mutation,SNP,C,T,c.(3301-3303)tCt>tTt,7,52,1,23
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,Unknown,0,X,27481342,27481342,IGR,SNP,G,A,,5,148,0,46
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ZDHHC15,158866,X,74651350,74651350,Nonsense_Mutation,SNP,G,A,c.(385-387)Cga>Tga,7,43,0,42
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ACVR2A,92,2,148657065,148657066,Frame_Shift_Ins,INS,-,T,c.(301-306)tattttfs,9,54,,
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,ANKUB1,389161,3,149485470,149485471,Frame_Shift_Del,DEL,TG,-,c.(976-981)cacagtfs,27,205,,
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,TYRP1,7306,9,12704432,12704433,Intron,INS,-,A,,21,63,,
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,AMBRA1,55626,11,46456420,46456420,Frame_Shift_Del,DEL,T,-,c.(2800-2802)atgfs,42,64,,
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,MALAT1,378938,11,65266654,65266655,lincRNA,DEL,AT,-,,10,24,,
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,RNF111,54778,15,59373313,59373314,Frame_Shift_Ins,INS,-,C,c.(2128-2130)ccafs,59,111,,
RP-1532_PCProject_0495_BLOOD_P_v3_Exome_OnPrem,NELFCD,51497,20,57561112,57561113,Intron,INS,-,A,,17,56,,
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,HSPG2,3339,1,22176659,22176659,Missense_Mutation,SNP,T,C,c.(7321-7323)Atc>Gtc,27,387,0,231
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,AIM1L,55057,1,26671953,26671953,5'Flank,SNP,G,T,,4,47,0,14
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,EPHA10,284656,1,38227480,38227480,Silent,SNP,G,T,c.(445-447)ccC>ccA,8,347,0,181
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,ZMPSTE24,10269,1,40726580,40726580,Nonsense_Mutation,SNP,G,T,c.(193-195)Gag>Tag,4,99,0,108
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,FLG,2312,1,152276000,152276000,Missense_Mutation,SNP,G,T,c.(11362-11364)Cac>Aac,50,604,0,497
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,TRIM46,80128,1,155156508,155156508,Missense_Mutation,SNP,G,C,c.(2122-2124)Gtt>Ctt,7,441,0,290
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,PRRC2C,23215,1,171501777,171501777,Missense_Mutation,SNP,G,A,c.(1543-1545)cGt>cAt,9,81,0,115
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,PTPRVP,148713,1,202158126,202158126,RNA,SNP,A,G,,19,146,0,34
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,PPP1R12B,4660,1,202407120,202407120,Missense_Mutation,SNP,C,T,c.(1426-1428)Cgg>Tgg,17,329,0,323
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,NTPCR,84284,1,233112122,233112122,Intron,SNP,T,G,,4,84,0,74
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,RHOB,388,2,20647605,20647605,Missense_Mutation,SNP,G,A,c.(379-381)Gtc>Atc,5,137,0,192
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,XDH,7498,2,31562381,31562381,Missense_Mutation,SNP,T,G,c.(3748-3750)Aac>Cac,11,382,0,291
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,DCTN1,1639,2,74596507,74596507,Missense_Mutation,SNP,G,A,c.(1504-1506)Cgt>Tgt,19,365,0,297
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,LRP2,4036,2,170163866,170163866,Missense_Mutation,SNP,C,A,c.(352-354)Ggt>Tgt,9,260,1,283
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,PLCL1,5334,2,198949863,198949863,Missense_Mutation,SNP,G,C,c.(1621-1623)gGa>gCa,4,50,0,56
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,DIRC3,729582,2,218620751,218620751,Silent,SNP,G,T,c.(103-105)gcC>gcA,15,176,0,124
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,KIF1A,547,2,241727475,241727475,Missense_Mutation,SNP,A,G,c.(355-357)aTc>aCc,12,65,1,59
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,NUP210,23225,3,13441343,13441343,Missense_Mutation,SNP,C,G,c.(184-186)gaG>gaC,10,176,0,74
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,USP19,10869,3,49153346,49153346,Silent,SNP,C,T,c.(1192-1194)ccG>ccA,3,42,0,14
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,RHOA,387,3,49398388,49398388,Intron,SNP,C,T,,4,48,0,27
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,MYH15,22989,3,108195263,108195263,Missense_Mutation,SNP,C,T,c.(1273-1275)aGa>aAa,5,44,0,40
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,CHRD,8646,3,184100955,184100955,Intron,SNP,A,G,,7,76,1,48
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,ENAM,10117,4,71509718,71509718,Missense_Mutation,SNP,G,T,c.(2575-2577)Ggt>Tgt,20,358,0,317
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,UGT8,7368,4,115544186,115544186,Silent,SNP,C,T,c.(148-150)caC>caT,4,134,0,120
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,SLC7A11,23657,4,139100374,139100374,Missense_Mutation,SNP,A,G,c.(1441-1443)Tcg>Ccg,4,89,0,58
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,SDHA,6389,5,251472,251472,Missense_Mutation,SNP,C,G,c.(1681-1683)gaC>gaG,6,284,1,342
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,BRD9,65980,5,876219,876219,Missense_Mutation,SNP,C,A,c.(1378-1380)aaG>aaT,4,136,0,81
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,FAM174A,345757,5,99871252,99871252,Nonsense_Mutation,SNP,C,A,c.(16-18)tgC>tgA,3,50,0,148
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,PCDHA1,56147,5,140167438,140167438,Missense_Mutation,SNP,G,T,c.(1561-1563)caG>caT,6,439,0,527
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,PCDHA11,56138,5,140249283,140249283,Missense_Mutation,SNP,T,A,c.(595-597)Tct>Act,4,127,0,85
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,ITK,3702,5,156671376,156671376,Missense_Mutation,SNP,A,C,c.(1336-1338)tAt>tCt,8,437,0,293
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,TNXB,7148,6,32064824,32064824,Missense_Mutation,SNP,C,A,c.(805-807)gGc>gTc,5,245,0,194
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,PRSS35,167681,6,84233512,84233512,Missense_Mutation,SNP,G,C,c.(352-354)Gtt>Ctt,10,166,0,162
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,TAB2,23118,6,149700123,149700123,Missense_Mutation,SNP,C,A,c.(1072-1074)Cag>Aag,9,233,0,220
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,TCP10L2,401285,6,167585662,167585662,Missense_Mutation,SNP,G,T,c.(28-30)gaG>gaT,13,149,0,120
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,MUC17,140453,7,100686555,100686555,Missense_Mutation,SNP,T,A,c.(11857-11859)gTc>gAc,12,131,0,82
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,SLC26A3,1811,7,107415261,107415261,Silent,SNP,G,T,c.(1732-1734)atC>atA,13,237,0,258
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,PCM1,5108,8,17817901,17817901,Missense_Mutation,SNP,T,G,c.(2269-2271)aTt>aGt,3,28,0,55
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,KCNV1,27012,8,110986485,110986485,Missense_Mutation,SNP,C,A,c.(133-135)Gtg>Ttg,32,218,0,212
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,KLHL38,340359,8,124658207,124658207,Silent,SNP,G,A,c.(1516-1518)gaC>gaT,81,360,0,209
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,COL22A1,169044,8,139825206,139825206,Silent,SNP,A,G,c.(1300-1302)acT>acC,6,182,0,118
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,KIAA1875,340390,8,145166015,145166015,Silent,SNP,G,T,c.(2314-2316)cgG>cgT,34,211,0,190
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,ZNF517,340385,8,146033177,146033177,Silent,SNP,A,C,c.(874-876)acA>acC,7,187,1,139
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,FPGS,2356,9,130569491,130569491,Missense_Mutation,SNP,G,A,c.(505-507)Ggc>Agc,16,198,0,182
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,GPR158,57512,10,25887878,25887878,Missense_Mutation,SNP,G,A,c.(3322-3324)cGt>cAt,65,234,0,181
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,KCNMA1,3778,10,78778865,78778865,Intron,SNP,G,T,,6,72,0,96
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,SLIT1,6585,10,98778874,98778874,Intron,SNP,G,A,,5,81,1,75
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,SLIT1,6585,10,98816098,98816098,Silent,SNP,G,T,c.(1279-1281)tcC>tcA,10,104,0,81
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,NLRP14,338323,11,7079551,7079551,Missense_Mutation,SNP,C,T,c.(2503-2505)Ctt>Ttt,10,161,0,141
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,OR4C11,219429,11,55371455,55371455,Missense_Mutation,SNP,G,T,c.(394-396)aCc>aAc,10,109,0,80
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,RP11-672A2.3,0,11,76414415,76414415,lincRNA,SNP,C,G,,5,85,0,73
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,FAT3,120114,11,92507283,92507283,Silent,SNP,G,A,c.(4270-4272)gaG>gaA,9,139,0,124
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,MMP1,4312,11,102666328,102666328,Missense_Mutation,SNP,T,A,c.(634-636)ttA>ttT,7,63,0,52
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,OPCML,4978,11,132307155,132307155,Missense_Mutation,SNP,C,T,c.(625-627)Gct>Act,6,148,0,134
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,IQSEC3,440073,12,250297,250297,Missense_Mutation,SNP,G,C,c.(1999-2001)Gac>Cac,17,43,2,55
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,A2M,2,12,9260198,9260198,Missense_Mutation,SNP,G,T,c.(799-801)agC>agA,5,123,0,89
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,TMEM106C,79022,12,48361029,48361029,Missense_Mutation,SNP,T,C,c.(640-642)aTa>aCa,5,174,0,194
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,LRIG3,121227,12,59274588,59274588,Missense_Mutation,SNP,T,G,c.(1576-1578)Agt>Cgt,19,175,0,125
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,BTBD11,121551,12,107713447,107713447,Missense_Mutation,SNP,C,A,c.(730-732)Ctc>Atc,5,203,0,155
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,TMEM132B,114795,12,126138781,126138781,Missense_Mutation,SNP,C,T,c.(2761-2763)gCg>gTg,8,252,0,125
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,IL25,64806,14,23842453,23842453,Missense_Mutation,SNP,C,A,c.(124-126)agC>agA,5,472,0,304
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,HHIPL1,84439,14,100119014,100119014,Missense_Mutation,SNP,C,T,c.(709-711)Cgg>Tgg,5,248,0,127
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,SNHG14,0,15,25448395,25448395,RNA,SNP,T,C,,18,224,0,206
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,IGDCC4,57722,15,65678291,65678291,Missense_Mutation,SNP,A,C,c.(3058-3060)Tcc>Gcc,22,247,1,115
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,KIF7,374654,15,90190081,90190081,Missense_Mutation,SNP,C,T,c.(1768-1770)Ggc>Agc,16,194,0,232
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,IGF1R,3480,15,99478587,99478587,Missense_Mutation,SNP,G,C,c.(3229-3231)Gtc>Ctc,8,457,0,310
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,RAB11FIP3,9727,16,532664,532664,Missense_Mutation,SNP,C,T,c.(1042-1044)tCg>tTg,20,352,0,218
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,CHTF18,63922,16,842304,842304,Missense_Mutation,SNP,A,C,c.(1282-1284)aAg>aCg,10,228,0,209
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,CACNA1H,8912,16,1272755,1272755,IGR,SNP,G,T,,5,199,0,112
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,ERN2,10595,16,23706063,23706063,Missense_Mutation,SNP,G,T,c.(1930-1932)Cca>Aca,14,106,0,86
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,RBBP6,5930,16,24581107,24581107,Missense_Mutation,SNP,A,C,c.(3094-3096)gaA>gaC,4,67,0,57
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,SRCAP,10847,16,30732097,30732097,Silent,SNP,G,A,c.(3049-3051)gcG>gcA,7,142,0,92
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,VAC14,55697,16,70721865,70721865,Missense_Mutation,SNP,C,T,c.(2314-2316)cGt>cAt,3,40,0,65
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,GLOD4,51031,17,680202,680202,Missense_Mutation,SNP,G,A,c.(211-213)aCa>aTa,4,127,0,112
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,TP53,7157,17,7578280,7578280,Missense_Mutation,SNP,G,A,c.(568-570)cCt>cTt,24,338,0,283
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,SLC47A1,55244,17,19480697,19480697,Missense_Mutation,SNP,C,T,c.(1543-1545)cCt>cTt,6,381,0,226
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,NOS2,4843,17,26107806,26107806,Missense_Mutation,SNP,T,G,c.(991-993)Atg>Ctg,27,367,0,228
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,GIT1,28964,17,27902848,27902848,Silent,SNP,C,T,c.(1732-1734)caG>caA,7,217,1,143
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,RHOT1,55288,17,30535144,30535144,Missense_Mutation,SNP,A,G,c.(1555-1557)Aga>Gga,6,75,0,67
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,ACACA,31,17,35545250,35545250,Silent,SNP,T,C,c.(4630-4632)ctA>ctG,5,223,0,193
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,TBKBP1,9755,17,45785871,45785871,Silent,SNP,G,C,c.(982-984)cgG>cgC,18,113,0,89
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,ACE,1636,17,61562784,61562784,Intron,SNP,G,A,,11,258,0,234
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,PRKAR1A,5573,17,66531991,66531991,IGR,SNP,G,T,,5,118,0,124
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,EVI5L,115704,19,7927889,7927889,Missense_Mutation,SNP,G,A,c.(1945-1947)cGg>cAg,8,161,0,193
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,ICAM1,3383,19,10394858,10394858,Missense_Mutation,SNP,G,T,c.(787-789)Gtc>Ttc,8,392,0,318
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,HAUS8,93323,19,17170806,17170806,Splice_Site,SNP,C,T,c.e5+1,6,67,0,89
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,ARRDC2,27106,19,18121445,18121445,Silent,SNP,C,T,c.(1075-1077)ttC>ttT,11,207,0,157
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,ZNF626,199777,19,20806987,20806987,3'UTR,SNP,C,T,,4,72,0,86
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,PLEKHA4,57664,19,49362790,49362790,Missense_Mutation,SNP,G,A,c.(628-630)Ctc>Ttc,9,240,0,149
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,ZNF175,7728,19,52091117,52091117,Silent,SNP,C,T,c.(1531-1533)acC>acT,10,88,0,68
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,SOGA1,140710,20,35444087,35444087,Missense_Mutation,SNP,C,A,c.(1042-1044)aaG>aaT,5,234,0,205
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,ZFP64,55734,20,50701600,50701600,Missense_Mutation,SNP,G,C,c.(1432-1434)gaC>gaG,15,182,0,85
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,PI4KA,5297,22,21082109,21082109,Missense_Mutation,SNP,C,G,c.(4552-4554)Gtt>Ctt,13,196,0,132
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,THAP7,80764,22,21356198,21356198,Start_Codon_SNP,SNP,C,T,c.(1-3)atG>atA,3,36,0,104
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,SCUBE1,80274,22,43604145,43604145,Missense_Mutation,SNP,C,G,c.(2665-2667)tgG>tgC,6,292,0,176
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,SBF1,6305,22,50905055,50905055,Missense_Mutation,SNP,C,T,c.(634-636)Gcc>Acc,5,119,0,93
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,LMF2,91289,22,50943536,50943536,Nonsense_Mutation,SNP,G,A,c.(1204-1206)Caa>Taa,6,221,0,188
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,ACR,49,22,51178527,51178527,Intron,SNP,C,T,,7,287,0,108
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,DCAF8L2,347442,X,27765205,27765205,Missense_Mutation,SNP,G,A,c.(193-195)Gat>Aat,36,89,0,52
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,DMD,1756,X,31341770,31341770,Missense_Mutation,SNP,C,G,c.(9169-9171)Gtc>Ctc,5,209,0,128
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,DMXL1,1657,5,118485383,118485392,Frame_Shift_Del,DEL,CAGTCTTGCA,-,c.(3859-3870)accagtcttgcafs,13,123,,
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,HHLA1,10086,8,133111102,133111108,Intron,DEL,TGGATTG,-,,15,60,,
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,FXYD4,53828,10,43869941,43869950,Splice_Site,DEL,GACCCATTTG,-,c.(61-72)gacccatttgcc>cc,11,254,,
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,C11orf52,91894,11,111796378,111796386,Splice_Site,DEL,AAGCCAAAC,-,c.(70-81)ggaagccaaaca>gga,4,139,,
RP-1532_PCProject_0503_BLOOD_P_v3_Exome_OnPrem,MYH9,4627,22,36684391,36684420,In_Frame_Del,DEL,CTTCCGGGCGGCCACTGCCATCGAGCGCTG,-,c.(4810-4839)cagcgctcgatggcagtggccgcccggaagdel,8,337,,
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,RSC1A1,6248,1,15986503,15986503,Missense_Mutation,SNP,G,A,c.(139-141)cGc>cAc,4,117,0,99
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,C1orf94,84970,1,34663303,34663303,Silent,SNP,C,A,c.(796-798)acC>acA,31,425,1,243
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,TFAP2E,339488,1,36039764,36039764,Silent,SNP,G,A,c.(262-264)gcG>gcA,9,103,0,173
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,CCDC30,728621,1,43004936,43004936,Missense_Mutation,SNP,A,G,c.(208-210)atA>atG,3,39,0,29
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,CACHD1,57685,1,65131753,65131753,Missense_Mutation,SNP,G,A,c.(2290-2292)Gta>Ata,4,60,1,45
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,MSH4,4438,1,76333269,76333269,Missense_Mutation,SNP,T,C,c.(1300-1302)tTa>tCa,6,61,0,26
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,ADAR,103,1,154573954,154573954,Missense_Mutation,SNP,C,A,c.(1162-1164)gaG>gaT,18,347,0,324
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,AAK1,22848,2,69736452,69736452,Silent,SNP,T,C,c.(1915-1917)gtA>gtG,18,346,0,314
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,LRRTM1,347730,2,80529817,80529817,Silent,SNP,C,T,c.(1126-1128)tcG>tcA,10,174,0,189
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,NBEAL1,65065,2,204058534,204058534,Missense_Mutation,SNP,G,C,c.(6850-6852)aGa>aCa,7,65,0,47
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,INHA,3623,2,220439824,220439824,Missense_Mutation,SNP,G,T,c.(676-678)gGa>gTa,16,348,0,246
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,HDAC4,9759,2,239990208,239990208,Missense_Mutation,SNP,C,T,c.(2830-2832)gGg>gAg,4,193,0,129
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,CNTN4,152330,3,3084709,3084709,Nonsense_Mutation,SNP,C,T,c.(2560-2562)Cga>Tga,10,158,0,137
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,ZNF620,253639,3,40547836,40547836,5'UTR,SNP,C,T,,22,245,0,308
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,MST1R,4486,3,49940065,49940065,Silent,SNP,G,A,c.(976-978)tcC>tcT,13,213,0,225
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,IQCF6,440956,3,51812962,51812962,Start_Codon_SNP,SNP,T,G,c.(1-3)Atg>Ctg,7,119,0,72
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,CACNA1D,776,3,53781350,53781350,Silent,SNP,G,A,c.(3187-3189)aaG>aaA,26,362,0,226
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,CADM2,253559,3,85932473,85932473,Missense_Mutation,SNP,G,A,c.(244-246)Gct>Act,4,77,0,42
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,ZIC4,84107,3,147113951,147113951,Missense_Mutation,SNP,G,C,c.(376-378)Cag>Gag,38,188,0,218
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,TNIK,23043,3,170912305,170912305,Intron,SNP,G,A,,9,97,0,74
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,C4orf26,152816,4,76489724,76489724,3'UTR,SNP,G,C,,20,215,0,125
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,LIN54,132660,4,83857472,83857472,Missense_Mutation,SNP,T,G,c.(1666-1668)aAc>aCc,4,37,0,11
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,PRSS12,8492,4,119203260,119203260,Missense_Mutation,SNP,C,G,c.(2458-2460)aGc>aCc,13,266,0,211
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,PCDHA1,56147,5,140166923,140166923,Silent,SNP,C,T,c.(1048-1050)Ctg>Ttg,7,105,0,92
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,DOCK2,1794,5,169507222,169507222,Missense_Mutation,SNP,T,C,c.(5221-5223)aTc>aCc,4,162,0,133
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,KCNIP1,30820,5,170148911,170148911,Intron,SNP,C,T,,4,82,0,87
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,CDHR2,54825,5,176005447,176005447,Silent,SNP,C,T,c.(1654-1656)gcC>gcT,11,336,0,374
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,NSD1,64324,5,176722221,176722221,Missense_Mutation,SNP,G,C,c.(7852-7854)Gta>Cta,16,222,0,176
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,DSP,1832,6,7568754,7568754,Missense_Mutation,SNP,C,G,c.(1351-1353)Cgt>Ggt,8,225,0,154
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,OPN5,221391,6,47799749,47799749,Missense_Mutation,SNP,C,A,c.(1078-1080)cCc>cAc,7,94,0,29
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,AOAH,313,7,36552756,36552756,3'UTR,SNP,T,C,,22,306,0,264
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,PGAM2,5224,7,44105088,44105088,Missense_Mutation,SNP,C,A,c.(40-42)aGc>aTc,28,326,0,250
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,KMT2C,58508,7,151873675,151873675,Missense_Mutation,SNP,G,A,c.(8863-8865)Cct>Tct,5,223,0,128
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,MYO3A,53904,10,26434380,26434380,Missense_Mutation,SNP,T,A,c.(2422-2424)Ttt>Att,6,85,0,39
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,RASSF4,83937,10,45478461,45478461,Intron,SNP,C,T,,6,55,0,47
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,ATG2A,23130,11,64675084,64675084,Missense_Mutation,SNP,C,G,c.(2560-2562)Gac>Cac,13,123,1,69
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,IGHMBP2,3508,11,68707026,68707026,Missense_Mutation,SNP,C,T,c.(2809-2811)Cgc>Tgc,15,261,0,192
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,AQP11,282679,11,77301558,77301558,Missense_Mutation,SNP,C,G,c.(520-522)tCc>tGc,5,193,0,192
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,TECTA,7007,11,121023759,121023759,Silent,SNP,C,T,c.(4273-4275)tgC>tgT,5,251,1,199
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,TCTN1,79600,12,111057678,111057678,Silent,SNP,G,A,c.(256-258)caG>caA,39,453,0,400
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,RPH3A,22895,12,113332426,113332426,Missense_Mutation,SNP,C,A,c.(1819-1821)Caa>Aaa,6,199,0,154
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,JDP2,122953,14,75936067,75936067,Silent,SNP,G,A,c.(379-381)caG>caA,7,149,0,154
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,AKT1,207,14,105236697,105236697,Missense_Mutation,SNP,G,A,c.(1423-1425)tCg>tTg,5,276,0,203
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,KIAA0556,23247,16,27751560,27751560,Missense_Mutation,SNP,G,A,c.(1942-1944)Ggt>Agt,4,227,0,139
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,NETO2,81831,16,47143623,47143623,Splice_Site,SNP,C,G,c.e7-1,5,125,0,97
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,KATNB1,10300,16,57786508,57786508,Silent,SNP,C,T,c.(697-699)ccC>ccT,11,183,0,167
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,TP53,7157,17,7578268,7578268,Missense_Mutation,SNP,A,C,c.(580-582)cTt>cGt,47,382,0,339
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,RNF112,7732,17,19318461,19318461,Missense_Mutation,SNP,G,A,c.(1237-1239)Gcc>Acc,9,141,0,146
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,NOS2,4843,17,26110017,26110017,Missense_Mutation,SNP,G,A,c.(583-585)Cgc>Tgc,5,215,0,172
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,MC2R,4158,18,13885043,13885043,Missense_Mutation,SNP,T,C,c.(475-477)Acg>Gcg,16,191,0,177
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,SS18,6760,18,23615044,23615044,Missense_Mutation,SNP,G,A,c.(1021-1023)Cca>Tca,16,229,0,158
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,TCEB3C,162699,18,44555148,44555148,Missense_Mutation,SNP,C,T,c.(1066-1068)Gaa>Aaa,27,3755,1,5736
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,MYO5B,4645,18,47361759,47361759,Missense_Mutation,SNP,A,C,c.(5347-5349)aaT>aaG,8,109,0,50
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,SLC1A6,6511,19,15082539,15082539,Intron,SNP,G,T,,4,67,0,55
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,ZNF100,163227,19,21910693,21910693,Missense_Mutation,SNP,C,A,c.(421-423)Gac>Tac,4,45,0,27
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,SIGLEC5,8778,19,52132298,52132298,Silent,SNP,G,A,c.(730-732)aaC>aaT,10,152,0,89
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,NLRP9,338321,19,56222819,56222819,Intron,SNP,G,A,,12,153,0,94
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,TNFRSF6B,8771,20,62325665,62325665,5'Flank,SNP,A,C,,8,58,0,26
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,TTC28,23331,22,28693607,28693607,Missense_Mutation,SNP,C,T,c.(763-765)Gga>Aga,15,240,0,138
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,PES1,23481,22,30981206,30981206,Intron,SNP,C,G,,7,31,0,48
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,MXRA5,25878,X,3227983,3227983,Missense_Mutation,SNP,T,C,c.(8260-8262)aAc>aGc,22,97,0,53
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,XIAP,331,X,123043127,123043127,3'UTR,SNP,C,T,,7,29,0,24
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,GABRQ,55879,X,151815474,151815474,Silent,SNP,C,T,c.(370-372)acC>acT,20,144,0,100
RP-1532_PCProject_0521_BLOOD_P_v3_Exome_OnPrem,CBS,875,21,44476932,44476939,Frame_Shift_Del,DEL,CACCAGGG,-,c.(1525-1533)gccctggtgfs,15,432,,