source gene variant_id consequence impact hgvsp personalis ucla_T1 ucla_T2 ucla_T1_organoid status organoid_match_T1 CNV BARD1 BARD1:LOH LOH tier1 1 1 1 1 truncal True CNV CAMTA1 CAMTA1:LOH LOH tier1 1 1 1 1 truncal True CNV CASP8 CASP8:LOH LOH tier1 1 1 1 1 truncal True CNV CDK4 CDK4:AMP AMP tier1 1 1 1 1 truncal True CNV CDKN2A CDKN2A:LOH LOH tier1 1 1 1 1 truncal True CNV CEBPA CEBPA:LOH LOH tier1 1 1 1 1 truncal True CNV CIC CIC:LOH LOH tier1 1 1 1 1 truncal True CNV CNOT3 CNOT3:LOH LOH tier1 1 1 1 1 truncal True CNV DDIT3 DDIT3:AMP AMP tier1 1 1 1 1 truncal True CNV ERBB3 ERBB3:AMP AMP tier1 1 1 1 1 truncal True CNV ERBB4 ERBB4:LOH LOH tier1 1 1 1 1 truncal True CNV ERCC3 ERCC3:LOH LOH tier1 1 1 1 1 truncal True CNV GATA1 GATA1:LOSS LOSS tier1 1 1 1 1 truncal True CNV HNF1A HNF1A:LOH LOH tier1 1 1 1 1 truncal True CNV NCOR2 NCOR2:LOH LOH tier1 1 1 1 1 truncal True CNV PPP2R1A PPP2R1A:LOH LOH tier1 1 1 1 1 truncal True CNV PTPN11 PTPN11:LOH LOH tier1 1 1 1 1 truncal True CNV PTPRB PTPRB:AMP AMP tier1 1 1 1 1 truncal True CNV SH2B3 SH2B3:LOH LOH tier1 1 1 1 1 truncal True CNV SPEN SPEN:LOH LOH tier1 1 1 1 1 truncal True CNV TFE3 TFE3:LOSS LOSS tier1 1 1 1 1 truncal True CNV WAS WAS:LOSS LOSS tier1 1 1 1 1 truncal True SNV GTF3C5 chr9:133057893:GAGGAGGAGGAA>- inframe_deletion MODERATE NP_036219.2:p.(Glu496_Glu499del) 1 1 1 1 truncal True SNV LCE1B chr1:152812486:C>T missense_variant MODERATE NP_848126.1:p.(Pro14Ser) 1 1 1 1 truncal True SNV MAP2 chr2:209694769:CTGGGCTACTGTGTGTTCAATAAGTACACAGT>AGGG frameshift_variant HIGH NP_001362434.1:p.(Leu867ArgfsTer39) 1 1 1 1 truncal True SNV ZNF436 chr1:23362762:G>C missense_variant MODERATE NP_001070663.1:p.(Ser207Cys) 1 1 1 1 truncal True CNV AR AR:LOSS LOSS tier1 0 1 1 1 acquired_T1 True CNV BCORL1 BCORL1:LOSS LOSS tier1 0 1 1 1 acquired_T1 True CNV BTK BTK:LOSS LOSS tier1 0 1 1 1 acquired_T1 True CNV DAXX DAXX:AMP AMP tier1 0 1 1 1 acquired_T1 True CNV ELF4 ELF4:LOSS LOSS tier1 0 1 1 1 acquired_T1 True CNV GPC3 GPC3:LOSS LOSS tier1 0 1 1 1 acquired_T1 True CNV IRS4 IRS4:LOSS LOSS tier1 0 1 1 1 acquired_T1 True CNV KDM5C KDM5C:LOSS LOSS tier1 0 1 1 1 acquired_T1 True CNV KDM6A KDM6A:LOSS LOSS tier1 0 1 1 1 acquired_T1 True CNV MAP2K4 MAP2K4:LOH LOH tier1 0 1 1 1 acquired_T1 True CNV NCOR1 NCOR1:LOH LOH tier1 0 1 1 1 acquired_T1 True CNV PER1 PER1:LOH LOH tier1 0 1 1 1 acquired_T1 True CNV PIM1 PIM1:AMP AMP tier1 0 1 1 1 acquired_T1 True CNV POU5F1 POU5F1:AMP AMP tier1 0 1 1 1 acquired_T1 True CNV TP53 TP53:LOH LOH tier1 0 1 1 1 acquired_T1 True SNV DBH chr9:133652279:C>T missense_variant MODERATE NP_000778.3:p.(His457Tyr) 0 1 1 1 acquired_T1 True SNV DOT1L chr19:2214506:G>A stop_gained HIGH NP_115871.1:p.(Trp611Ter) 0 1 1 1 acquired_T1 True SNV PIP5K1A chr1:151242178:G>- frameshift_variant HIGH NP_001129110.1:p.(Gly474AlafsTer22) 0 1 1 1 acquired_T1 True SNV ROBO2 chr3:77607853:C>A missense_variant MODERATE NP_001382585.1:p.(Asn1068Lys) 0 1 1 1 acquired_T1 True CNV BCL10 BCL10:LOH LOH tier1 0 0 1 1 acquired_T2 False CNV GNAS GNAS:LOH LOH tier1 0 0 1 0 acquired_T2 True CNV PTK6 PTK6:LOH LOH tier1 0 0 1 0 acquired_T2 True CNV RPL5 RPL5:LOH LOH tier1 0 0 1 1 acquired_T2 False CNV SMAD2 SMAD2:LOH LOH tier1 0 0 1 0 acquired_T2 True CNV SMAD4 SMAD4:LOH LOH tier1 0 0 1 0 acquired_T2 True CNV TNFRSF14 TNFRSF14:LOH LOH tier1 0 0 1 1 acquired_T2 False SNV ABCA13 chr7:48410588:C>T missense_variant MODERATE NP_689914.3:p.(Leu4047Phe) 0 0 1 1 acquired_T2 False SNV ADCYAP1 chr18:907775:C>- frameshift_variant HIGH NP_001093203.1:p.(Pro77ArgfsTer82) 0 0 1 0 acquired_T2 True SNV EPPK1 chr8:143870409:CC>AA missense_variant MODERATE NP_112598.3:p.(Gln948_Ala949delinsHisSer) 0 0 1 0 acquired_T2 True SNV GABBR1 chr6:29630494:G>A stop_gained HIGH NP_001461.1:p.(Gln147Ter) 0 0 1 0 acquired_T2 True SNV TAF7L chrX:101286650:T>- frameshift_variant;splice_region_variant HIGH NP_001161946.1:p.(Glu23AspfsTer9) 0 0 1 1 acquired_T2 False SV AFF3 AFF3:DEL DEL tier1 0 0 1 0 acquired_T2 True SV GNAS GNAS:DEL DEL tier1 0 0 1 0 acquired_T2 True SV GNAS GNAS:DUP DUP tier1 0 0 1 0 acquired_T2 True SV KEAP1 KEAP1:DEL DEL tier1 0 0 1 0 acquired_T2 True SV TGFBR2 TGFBR2:BND BND tier1 0 0 1 0 acquired_T2 True SV TGFBR2 TGFBR2:DEL DEL tier1 0 0 1 0 acquired_T2 True SV TGFBR2 TGFBR2:INS INS tier1 0 0 1 0 acquired_T2 True CNV TNFRSF14 TNFRSF14:LOSS LOSS tier1 1 1 0 0 lost_T2 False SNV ABTB3 chr12:107642169:C>T stop_gained;splice_region_variant HIGH NP_001018082.1:p.(Gln974Ter) 1 1 0 1 lost_T2 True SNV H1-2 chr6:26055824:CCTTGGGCTTAGCGG>- inframe_deletion MODERATE NP_005310.1:p.(Ala197_Lys201del) 1 1 0 1 lost_T2 True SNV PLK4 chr4:127886717:C>T synonymous_variant LOW NP_055079.3:p.(Asn449=) 1 1 0 1 lost_T2 True SNV SRGAP3 chr3:9104715:G>A stop_gained HIGH NP_055665.1:p.(Gln130Ter) 1 1 0 0 lost_T2 False CNV ACVR2A ACVR2A:LOH LOH tier1 1 0 0 0 lost_T1 True CNV CDK6 CDK6:AMP AMP tier1 1 0 0 0 lost_T1 True CNV CTNNB1 CTNNB1:AMP AMP tier1 1 0 0 0 lost_T1 True CNV KDM6A KDM6A:AMP AMP tier1 1 0 0 0 lost_T1 True CNV LRP1B LRP1B:LOH LOH tier1 1 0 0 0 lost_T1 True CNV MET MET:AMP AMP tier1 1 0 0 0 lost_T1 True CNV MYD88 MYD88:AMP AMP tier1 1 0 0 0 lost_T1 True SNV ADAM17 chr2:9521241:C>A stop_gained HIGH NP_003174.3:p.(Glu307Ter) 1 0 0 0 lost_T1 True SNV KDM3B chr5:138391529:C>T missense_variant MODERATE NP_057688.3:p.(Pro633Ser) 1 0 0 0 lost_T1 True SNV KIF1C chr17:5007293:G>A missense_variant MODERATE NP_006603.2:p.(Glu456Lys) 1 0 0 0 lost_T1 True SNV MBD4 chr3:129437921:C>T missense_variant MODERATE NP_001263199.1:p.(Arg45Lys) 1 0 0 0 lost_T1 True SNV SAMD9 chr7:93101611:C>T missense_variant MODERATE NP_060124.2:p.(Gly1496Glu) 1 0 0 0 lost_T1 True SV AR AR:DEL DEL tier1 1 0 0 0 lost_T1 True CNV ERCC2 ERCC2:LOSS LOSS tier1 0 1 0 0 T1_only False CNV POLD1 POLD1:LOSS LOSS tier1 0 1 0 0 T1_only False SNV ACE chr17:63497361:T>A missense_variant MODERATE NP_000780.1:p.(Ser1306Thr) 0 1 0 1 T1_only True SNV CGNL1 chr15:57451531:ATTGGAACAGAAAAGCA>- frameshift_variant HIGH NP_116255.2:p.(Leu613ValfsTer7) 0 1 0 0 T1_only False SNV CNTRL chr9:121115135:G>T stop_gained HIGH NP_008949.4:p.(Glu464Ter) 0 1 0 1 T1_only True SNV CTSE chr1:206022947:C>A missense_variant MODERATE NP_001901.1:p.(Cys60Phe) 0 1 0 1 T1_only True SNV DYNC1H1 chr14:102030200:G>T missense_variant MODERATE NP_001367.2:p.(Gln3267His) 0 1 0 0 T1_only False SNV FZD9 chr7:73434684:G>A missense_variant MODERATE NP_003499.1:p.(Arg226His) 0 1 0 1 T1_only True SNV GLIS3 chr9:3856152:ATGTGGTGA>T frameshift_variant HIGH NP_001035878.1:p.(His775GlnfsTer81) 0 1 0 1 T1_only True SNV PPP6R3 chr11:68601969:G>T missense_variant;splice_region_variant MODERATE NP_001157633.1:p.(Ala767Ser) 0 1 0 0 T1_only False SNV RNF213 chr17:80327830:TAC>- inframe_deletion MODERATE NP_001243000.2:p.(Leu1071del) 0 1 0 1 T1_only True SNV SPAG1 chr8:100213209:G>- frameshift_variant HIGH NP_003105.2:p.(Gly407AlafsTer42) 0 1 0 1 T1_only True SNV TECPR1 chr7:98241127:G>- frameshift_variant HIGH NP_056210.1:p.(Thr259HisfsTer77) 0 1 0 0 T1_only False SNV TMEM139 chr7:143286139:G>T missense_variant MODERATE NP_001269805.1:p.(Trp61Leu) 0 1 0 1 T1_only True SNV TRMO chr9:97910412:C>T missense_variant MODERATE NP_057565.3:p.(Gly205Glu) 0 1 0 1 T1_only True SNV WWC1 chr5:168399513:T>G missense_variant MODERATE NP_056053.1:p.(Val179Gly) 0 1 0 1 T1_only True SV FGFR2 FGFR2:DEL DEL tier1 0 1 0 1 T1_only True CNV ATP1A1 ATP1A1:LOH LOH tier1 1 0 1 1 T0_T2_only False CNV ERCC2 ERCC2:LOH LOH tier1 1 0 1 1 T0_T2_only False CNV NOTCH2 NOTCH2:LOH LOH tier1 1 0 1 1 T0_T2_only False CNV POLD1 POLD1:LOH LOH tier1 1 0 1 1 T0_T2_only False SNV ACVR1 chr2:157765997:TGGT>GGAC missense_variant MODERATE NP_001104537.1:p.(Pro330Ser) 0 0 0 1 organoid_only False SNV AMD1 chr6:110893500:G>T missense_variant MODERATE NP_001625.2:p.(Ala297Ser) 0 0 0 1 organoid_only False SNV AMD1 chr6:110893520:A>C missense_variant MODERATE NP_001625.2:p.(Glu303Asp) 0 0 0 1 organoid_only False SNV ANK2 chr4:113359291:AT>GA missense_variant MODERATE NP_001139.3:p.(His3558Arg) 0 0 0 1 organoid_only False SNV ARCN1 chr11:118583290:T>C synonymous_variant LOW NP_001646.2:p.(Leu127=) 0 0 0 1 organoid_only False SNV ASXL2 chr2:25743447:T>A missense_variant MODERATE NP_060733.4:p.(Met964Leu) 0 0 0 1 organoid_only False SNV BCL11B chr14:99257816:CG>TA missense_variant MODERATE NP_612808.1:p.(Ala28Thr) 0 0 0 1 organoid_only False SNV BCL9 chr1:147624277:G>C missense_variant MODERATE NP_004317.2:p.(Gly1200Ala) 0 0 0 1 organoid_only False SNV CAMSAP1 chr9:135882932:CG>TA missense_variant MODERATE NP_056262.3:p.(Ala103Thr) 0 0 0 1 organoid_only False SNV CBLL1 chr7:107758605:AAA>CAG missense_variant MODERATE NP_079090.2:p.(Asn302Ser) 0 0 0 1 organoid_only False SNV CDAN1 chr15:42735960:C>T missense_variant MODERATE NP_612486.2:p.(Ala230Thr) 0 0 0 1 organoid_only False SNV CDH11 chr16:64988200:G>T missense_variant MODERATE NP_001788.2:p.(Thr319Lys) 0 0 0 1 organoid_only False SNV CDH11 chr16:64988212:GA>AG missense_variant MODERATE NP_001788.2:p.(Ser315Leu) 0 0 0 1 organoid_only False SNV CDH11 chr16:64988217:C>T missense_variant MODERATE NP_001788.2:p.(Met313Ile) 0 0 0 1 organoid_only False SNV CDH11 chr16:64988223:AT>GG missense_variant MODERATE NP_001788.2:p.(Asp311Ala) 0 0 0 1 organoid_only False SNV CDH11 chr16:64988234:CA>TG missense_variant MODERATE NP_001788.2:p.(Val308Ile) 0 0 0 1 organoid_only False SNV CDH11 chr16:64988239:T>C missense_variant MODERATE NP_001788.2:p.(Asn306Ser) 0 0 0 1 organoid_only False SNV CDH11 chr16:64988279:T>C missense_variant MODERATE NP_001788.2:p.(Lys293Glu) 0 0 0 1 organoid_only False SNV CDH11 chr16:64988302:->C frameshift_variant HIGH NP_001788.2:p.(Glu285GlyfsTer9) 0 0 0 1 organoid_only False SNV CDH11 chr16:64998674:CCGA>ATTTG frameshift_variant HIGH NP_001788.2:p.(Arg137LysfsTer17) 0 0 0 1 organoid_only False SNV CDH11 chr16:64998836:AGA>GGC missense_variant MODERATE NP_001788.2:p.(Ser83Ala) 0 0 0 1 organoid_only False SNV CDKN1B chr12:12718144:C>T missense_variant MODERATE NP_004055.1:p.(Pro102Leu) 0 0 0 1 organoid_only False SNV CDV3 chr3:133587953:T>G missense_variant MODERATE NP_060018.1:p.(Asp228Glu) 0 0 0 1 organoid_only False SNV CEBPA chr19:33302389:G>A missense_variant MODERATE NP_004355.2:p.(Ala9Val) 0 0 0 1 organoid_only False SNV CILP chr15:65198796:C>G missense_variant MODERATE NP_003604.4:p.(Ser497Thr) 0 0 0 1 organoid_only False SNV CNTNAP5 chr2:124527414:A>G missense_variant MODERATE NP_001354427.1:p.(Asn536Ser) 0 0 0 1 organoid_only False SNV COL6A3 chr2:237379144:CA>GG missense_variant MODERATE NP_004360.2:p.(Met663Thr) 0 0 0 1 organoid_only False SNV COPS7B chr2:231807579:CG>TA missense_variant MODERATE NP_073567.1:p.(Ala244Thr) 0 0 0 1 organoid_only False SNV CRIM1 chr2:36356312:A>G missense_variant MODERATE NP_057525.1:p.(Asp7Gly) 0 0 0 1 organoid_only False SNV CSDE1 chr1:114737987:GAGG>ATGT missense_variant MODERATE NP_001007554.1:p.(Leu95His) 0 0 0 1 organoid_only False SNV DDX6 chr11:118786140:T>G missense_variant MODERATE NP_004388.2:p.(Thr38Pro) 0 0 0 1 organoid_only False SNV DDX6 chr11:118786166:C>G missense_variant MODERATE NP_004388.2:p.(Gly29Ala) 0 0 0 1 organoid_only False SNV DDX6 chr11:118786169:G>C missense_variant MODERATE NP_004388.2:p.(Thr28Ser) 0 0 0 1 organoid_only False SNV DPP4 chr2:161995345:T>G missense_variant MODERATE NP_001926.2:p.(Asn694His) 0 0 0 1 organoid_only False SNV EEF2 chr19:3982273:T>C missense_variant MODERATE NP_001952.1:p.(Asp255Gly) 0 0 0 1 organoid_only False SNV EOMES chr3:27717710:GA>TT missense_variant MODERATE NP_001265111.1:p.(Ser493Asn) 0 0 0 1 organoid_only False SNV ETV1 chr7:13895928:C>T missense_variant MODERATE NP_004947.2:p.(Ala458Thr) 0 0 0 1 organoid_only False SNV ETV6 chr12:11869812:C>GCACTCG inframe_insertion MODERATE NP_001978.1:p.(His283_Ser284dup) 0 0 0 1 organoid_only False SNV FAT4 chr4:125316691:TCC>GCT missense_variant MODERATE NP_001278232.1:p.(Ser94Ala) 0 0 0 1 organoid_only False SNV FDPS chr1:155309905:AC>GT missense_variant MODERATE NP_001995.1:p.(Tyr39Cys) 0 0 0 1 organoid_only False SNV FN1 chr2:215380920:T>G missense_variant MODERATE NP_997647.2:p.(Glu1775Asp) 0 0 0 1 organoid_only False SNV FZD5 chr2:207768053:GGCA>CGGG missense_variant MODERATE NP_003459.2:p.(Ala229Pro) 0 0 0 1 organoid_only False SNV GAPDH chr12:6537665:CT>GC missense_variant MODERATE NP_002037.2:p.(Leu203Ala) 0 0 0 1 organoid_only False SNV GAPDH chr12:6537761:->T frameshift_variant HIGH NP_002037.2:p.(Thr237HisfsTer20) 0 0 0 1 organoid_only False SNV GAPDH chr12:6537765:CCACTG>TAACC frameshift_variant HIGH NP_002037.2:p.(Pro236LeufsTer10) 0 0 0 1 organoid_only False SNV GJC1 chr17:44805008:C>A missense_variant MODERATE NP_005488.2:p.(Glu270Asp) 0 0 0 1 organoid_only False SNV GPR75 chr2:53853958:CA>TG missense_variant MODERATE NP_006785.1:p.(Ala267Thr) 0 0 0 1 organoid_only False SNV HDAC9 chr7:18762236:A>G missense_variant MODERATE NP_848512.1:p.(Asn708Ser) 0 0 0 1 organoid_only False SNV HECTD1 chr14:31129172:C>G missense_variant MODERATE NP_056197.3:p.(Gly1400Ala) 0 0 0 1 organoid_only False SNV HPCAL1 chr2:10419865:G>T missense_variant MODERATE NP_002140.2:p.(Lys36Asn) 0 0 0 1 organoid_only False SNV HSPA12A chr10:116679535:->ATAGGGTCAGAACTCGGGGCAAGCCAACTTACTTGCTCTTCCTCAATGCATGCTCCACGCTGTGG stop_gained;frameshift_variant HIGH NP_079291.2:p.(Asn429LysfsTer2) 0 0 0 1 organoid_only False SNV INA chr10:103277362:T>A missense_variant MODERATE NP_116116.1:p.(Ser51Thr) 0 0 0 1 organoid_only False SNV IRS1 chr2:226795213:CA>TC missense_variant MODERATE NP_005535.1:p.(Asn1175_Gly1176delinsLysSer) 0 0 0 1 organoid_only False SNV KIF1A chr2:240757380:C>T missense_variant MODERATE NP_001230937.1:p.(Ala933Thr) 0 0 0 1 organoid_only False SNV KIFC1 chr6:33405368:G>A missense_variant MODERATE NP_002254.2:p.(Gly425Arg) 0 0 0 1 organoid_only False SNV KL chr13:33016930:GTC>ACT missense_variant MODERATE NP_004786.2:p.(Val164Thr) 0 0 0 1 organoid_only False SNV LCP1 chr13:46146964:C>T missense_variant MODERATE NP_002289.2:p.(Arg373Lys) 0 0 0 1 organoid_only False SNV LHFPL1 chrX:112671169:AT>GG missense_variant MODERATE NP_835469.1:p.(Asn74Thr) 0 0 0 1 organoid_only False SNV LRBA chr4:150599123:A>C missense_variant MODERATE NP_001351834.1:p.(Leu1977Arg) 0 0 0 1 organoid_only False SNV MAP1A chr15:43522167:C>G missense_variant MODERATE NP_002364.5:p.(Pro232Ala) 0 0 0 1 organoid_only False SNV MBD5 chr2:148469063:G>A missense_variant MODERATE NP_001365049.1:p.(Val374Ile) 0 0 0 1 organoid_only False SNV MEF2D chr1:156479733:GT>TG missense_variant MODERATE NP_005911.1:p.(Leu154Met) 0 0 0 1 organoid_only False SNV MGA chr15:41766833:GAAC>- frameshift_variant HIGH NP_001387154.1:p.(Glu2967GlnfsTer16) 0 0 0 1 organoid_only False SNV MTMR14 chr3:9697842:C>A missense_variant MODERATE NP_001070993.1:p.(Pro582Gln) 0 0 0 1 organoid_only False SNV NCOA6 chr20:34741679:T>C missense_variant MODERATE NP_054790.2:p.(Lys1526Arg) 0 0 0 1 organoid_only False SNV NPAS4 chr11:66424895:G>A missense_variant MODERATE NP_849195.2:p.(Asp669Asn) 0 0 0 1 organoid_only False SNV NUFIP2 chr17:29286212:T>G missense_variant MODERATE NP_065823.1:p.(Glu594Asp) 0 0 0 1 organoid_only False SNV ODC1 chr2:10444170:TTA>CTG missense_variant MODERATE NP_002530.1:p.(Asn125Ser) 0 0 0 1 organoid_only False SNV OGFRL1 chr6:71301505:C>T missense_variant MODERATE NP_078852.3:p.(Thr271Ile) 0 0 0 1 organoid_only False SNV OTUD7B chr1:149944445:TG>AA missense_variant MODERATE NP_064590.2:p.(Ala648Val) 0 0 0 1 organoid_only False SNV PCBP1 chr2:70088718:GC>AT stop_gained HIGH NP_006187.2:p.(Gln326Ter) 0 0 0 1 organoid_only False SNV PIEZO2 chr18:10708373:T>CGGGG frameshift_variant HIGH NP_001365112.1:p.(Glu1830AspfsTer5) 0 0 0 1 organoid_only False SNV PPP1CC chr12:110722539:A>G missense_variant MODERATE NP_002701.1:p.(Phe227Ser) 0 0 0 1 organoid_only False SNV PRPH2 chr6:42722185:A>T missense_variant MODERATE NP_000313.2:p.(Asp50Glu) 0 0 0 1 organoid_only False SNV RAB11FIP5 chr2:73089096:TAT>CAG missense_variant MODERATE NP_001358201.1:p.(Ile217Leu) 0 0 0 1 organoid_only False SNV RBM15 chr1:110339490:C>T missense_variant MODERATE NP_073605.4:p.(Arg29Trp) 0 0 0 1 organoid_only False SNV RFX7 chr15:56093748:T>C missense_variant MODERATE NP_073752.6:p.(Asn1327Ser) 0 0 0 1 organoid_only False SNV RFX7 chr15:56093757:C>T missense_variant MODERATE NP_073752.6:p.(Gly1324Asp) 0 0 0 1 organoid_only False SNV RNF103 chr2:86604464:T>G missense_variant MODERATE NP_005658.1:p.(Glu479Asp) 0 0 0 1 organoid_only False SNV RNF103 chr2:86604661:A>T missense_variant MODERATE NP_005658.1:p.(Ser414Thr) 0 0 0 1 organoid_only False SNV RNF114 chr20:49941680:C>T missense_variant MODERATE NP_061153.1:p.(Thr87Ile) 0 0 0 1 organoid_only False SNV RPRD2 chr1:150472601:T>C missense_variant MODERATE NP_056018.2:p.(Val1218Ala) 0 0 0 1 organoid_only False SNV SALL4 chr20:51802368:G>C missense_variant MODERATE NP_065169.1:p.(Ser14Trp) 0 0 0 1 organoid_only False SNV SETBP1 chr18:44953223:G>A missense_variant MODERATE NP_056374.2:p.(Val1295Met) 0 0 0 1 organoid_only False SNV SETBP1 chr18:44953226:A>G missense_variant MODERATE NP_056374.2:p.(Ser1296Gly) 0 0 0 1 organoid_only False SNV SETBP1 chr18:44953248:A>T missense_variant MODERATE NP_056374.2:p.(Tyr1303Phe) 0 0 0 1 organoid_only False SNV SFMBT2 chr10:7284110:C>T missense_variant MODERATE NP_001374818.1:p.(Gly189Asp) 0 0 0 1 organoid_only False SNV SFN chr1:26863755:C>A stop_gained HIGH NP_006133.1:p.(Tyr181Ter) 0 0 0 1 organoid_only False SNV SH3BP4 chr2:235042898:G>A missense_variant MODERATE NP_055336.1:p.(Arg710Lys) 0 0 0 1 organoid_only False SNV SLC6A17 chr1:110198169:G>A missense_variant MODERATE NP_001010898.1:p.(Val637Ile) 0 0 0 1 organoid_only False SNV SMG6 chr17:2299304:GAC>AAT missense_variant MODERATE NP_060045.4:p.(Val483Ile) 0 0 0 1 organoid_only False SNV SYS1 chr20:45366966:T>C missense_variant MODERATE NP_291020.1:p.(Phe108Leu) 0 0 0 1 organoid_only False SNV TAF7 chr5:141319471:C>T missense_variant MODERATE NP_005633.2:p.(Ala192Thr) 0 0 0 1 organoid_only False SNV TGFB3 chr14:75980716:T>A missense_variant MODERATE NP_003230.1:p.(Thr60Ser) 0 0 0 1 organoid_only False SNV TIAM1 chr21:31182595:CGT>TAC missense_variant MODERATE NP_001340623.1:p.(Asp904_Ala905delinsGlyThr) 0 0 0 1 organoid_only False SNV TIAM1 chr21:31266586:AGT>TGA missense_variant MODERATE NP_001340623.1:p.(Thr129Ser) 0 0 0 1 organoid_only False SNV TMPO chr12:98547744:T>G missense_variant MODERATE NP_001027454.1:p.(Ile417Met) 0 0 0 1 organoid_only False SNV TTN chr2:178570552:TC>- frameshift_variant HIGH NP_001254479.2:p.(Arg25193IlefsTer10) 0 0 0 1 organoid_only False SNV TTN chr2:178570559:->CC frameshift_variant HIGH NP_001254479.2:p.(Arg25193LysfsTer6) 0 0 0 1 organoid_only False SNV TUBA1A chr12:49185444:G>A missense_variant MODERATE NP_006000.2:p.(Arg308Cys) 0 0 0 1 organoid_only False SNV TULP4 chr6:158503746:G>T missense_variant MODERATE NP_064630.2:p.(Glu1361Asp) 0 0 0 1 organoid_only False SNV TWIST1 chr7:19117079:ACA>TCC missense_variant MODERATE NP_000465.1:p.(Cys81Gly) 0 0 0 1 organoid_only False SNV UBP1 chr3:33439831:CT>AC missense_variant MODERATE NP_055332.3:p.(Lys6Ser) 0 0 0 1 organoid_only False SNV USP1 chr1:62450577:ACA>GCC missense_variant MODERATE NP_003359.3:p.(Thr652Ala) 0 0 0 1 organoid_only False SNV USP1 chr1:62450617:C>G missense_variant MODERATE NP_003359.3:p.(Ala665Gly) 0 0 0 1 organoid_only False SNV WAC chr10:28535670:G>A missense_variant MODERATE NP_057712.2:p.(Asp63Asn) 0 0 0 1 organoid_only False SNV WDR20 chr14:102209703:GC>AT missense_variant MODERATE NP_653175.2:p.(Pro512Ser) 0 0 0 1 organoid_only False SNV WDR20 chr14:102209846:G>C missense_variant MODERATE NP_653175.2:p.(Gly559Ala) 0 0 0 1 organoid_only False SNV XKR4 chr8:55102627:GA>AC missense_variant MODERATE NP_443130.1:p.(Glu47Thr) 0 0 0 1 organoid_only False SNV YY1 chr14:100239420:->CGG inframe_insertion MODERATE NP_003394.1:p.(Gly64dup) 0 0 0 1 organoid_only False SNV ZBED4 chr22:49885684:TT>CC missense_variant MODERATE NP_055653.2:p.(Phe675Leu) 0 0 0 1 organoid_only False SV KMT2A KMT2A:INS INS tier1 0 0 0 1 organoid_only False SV TCF7L2 TCF7L2:INS INS tier1 0 0 0 1 organoid_only False