Supplementary Table 1: Tandem minigene constructs for patient 3784 TMG Gene aa position wt aa mut aa wild type amino acid sequence mutated amino acid sequence mutation type TMG1 ABHD16A 322 P S WNHPGFAGSTGVPFPQNEANAMDVV WNHPGFAGSTGVSFPQNEANAMDVV Substitution ALMS1 892 P F HLTEEALKVSIVPGPGDQKTGIPSA HLTEEALKVSIVFGPGDQKTGIPSA Substitution ANKHD1-EIF4EBP3 1555 P S RKNKKNKTKETPPTAHLILPEQHMS RKNKKNKTKETPSTAHLILPEQHMS Substitution ATP8B1 946 R K RLLLVHGRWSYIRMCKFLRYFFYKN RLLLVHGRWSYIKMCKFLRYFFYKN Substitution ATR 1405 L F AYGLLMELTRAYLAYADNSRAQDSA AYGLLMELTRAYFAYADNSRAQDSA Substitution ATXN7 780 P L VNVRHDQSGRGPPTGSPAESIKRMS VNVRHDQSGRGPLTGSPAESIKRMS Substitution B4GALT5 326 S F VSRPEGDTGKYKSIPHHHRGEVQFL VSRPEGDTGKYKFIPHHHRGEVQFL Substitution BLM 1351 A V MPASQRSKRRKTASSGSKAKGGSAT MPASQRSKRRKTVSSGSKAKGGSAT Substitution BRAF 600 V E LTVKIGDFGLATVKSRWSGSHQFEQ LTVKIGDFGLATEKSRWSGSHQFEQ Substitution BRAT1 418 T I APASSVGGHLCGTLAGCVRVQRAAL APASSVGGHLCGILAGCVRVQRAAL Substitution BRD9 554 S F GGSRPSSNLSSLSNASERDQHHLGS GGSRPSSNLSSLFNASERDQHHLGS Substitution BRF1 109 T I GNQLQLNQHCLDTAFNFFKMAVSRH GNQLQLNQHCLDIAFNFFKMAVSRH Substitution C11orf30 992 P L IHLQADQLQHKLPQMPQLSIRHQKL IHLQADQLQHKLLQMPQLSIRHQKL Substitution C2CD3 486 S L SKKISQSTALARSSKVLESSDHKLK SKKISQSTALARLSKVLESSDHKLK Substitution CAMKK2 124 P L GGSLDMNGRCICPSLPYSPVSSPQS GGSLDMNGRCICLSLPYSPVSSPQS Substitution CD164 50 L P PISNVTSAPVTSLPLVTTPAPETCE PISNVTSAPVTSPPLVTTPAPETCE Substitution TMG2 CDCA3 145 P S EEQMPPWNQTEFPSKQVFSKEEARQ EEQMPPWNQTEFSSKQVFSKEEARQ Substitution CDK13 757 R W FPITAIREIKILRQLTHQSIINMKE FPITAIREIKILWQLTHQSIINMKE Substitution CHPF 629 R C DTVLTPDFLNRCRMHAISGWQAFFP DTVLTPDFLNRCCMHAISGWQAFFP Substitution CLEC4F 19 P S RFCTDNQCVSLHPQEVDSVAMAPAA RFCTDNQCVSLHSQEVDSVAMAPAA Substitution COL5A2 1110 G E GQRGDPGSRGPIGPPGRAGKRGLPG GQRGDPGSRGPIEPPGRAGKRGLPG Substitution COL7A1 1412 G E GDKGDRGERGPPGPGEGGIAPGEPG GDKGDRGERGPPEPGEGGIAPGEPG Substitution CTSC 42 CTYLDLLGTWVFQVG … CTYLDLLGTWVFRWAPAVPSAMSTARLWDHKKKK Frameshift CTTN 261 S F GWDHQEKLQLHESQKDYKTGFGGKF GWDHQEKLQLHEFQKDYKTGFGGKF Substitution CTTN 261 S F GWDHQEKLQLHESQKDYSKGFGGKY GWDHQEKLQLHEFQKDYSKGFGGKY Substitution DBF4 16 P L KELVVVHKKQEKPCSPFDVDKPSSM KELVVVHKKQEKLCSPFDVDKPSSM Substitution DBF4 249 P L TNMPFINYSIQKPCSPFDVDKPSSM TNMPFINYSIQKLCSPFDVDKPSSM Substitution DCLRE1A 1009 P H YLEMKRFVQWLKPQKIIPTVNVGTW YLEMKRFVQWLKHQKIIPTVNVGTW Substitution DDX42 565 P L VATDVAARGLDIPSIKTVINYDVAR VATDVAARGLDILSIKTVINYDVAR Substitution DHX16 573 P S STFFDDAPVFRIPGRRFPVDIFYTK STFFDDAPVFRISGRRFPVDIFYTK Substitution DOLPP1 111 S F MPSSHSQFMWFFSVYSFLFLYLRMH MPSSHSQFMWFFFVYSFLFLYLRMH Substitution DTNA 87 T I ELNVSRLEAVLSTIFYQLNKRMPTT ELNVSRLEAVLSIIFYQLNKRMPTT Substitution TMG3 DTNB 110 L F STHQISVEQSISLLLNFMIAAYDSE STHQISVEQSISFLLNFMIAAYDSE Substitution ENSG00000006634 229 P S KPFVKVEDMSQSPAVHLM KPFVKVEDMSQSSAVHLM Substitution ENSG00000089902 35 T M SGNMAEIFRQSQT SGNMAEIFRQSQM Substitution ENSG00000099995 32 S F KQPLVRRSVRRRSRSQRKR KQPLVRRSVRRRFRSQRKR Substitution ENSG00000163738 3 P L MDPRVSGILVQLPLPDHVDERTICN MDLRVSGILVQLPLP Substitution ENSG00000164124 160 P L EIPNNTCSMDTTPLITEHGLQSCSD EIPNNTCSMDTTLLITEHGLQSCSD Substitution ENSG00000164124 160 P L EIPNNTCSMDTTPLITEHVSIV EIPNNTCSMDTTLLITEHVSIV Substitution ENSG00000187098 103 P L KFEEQNRAESECPDG KFEEQNRAESECLDG Substitution EPHA2 643 V M MLKTSSGKKEVPVAIKTLKAGYTEK MLKTSSGKKEVPMAIKTLKAGYTEK Substitution ESPL1 1380 A V VCPTESKPEVPQAPRVQQRVQTRLK VCPTESKPEVPQVPRVQQRVQTRLK Substitution EXOC3 49 A V ARKKASVEARLKAAIQSQLDGVRTG ARKKASVEARLKVAIQSQLDGVRTG Substitution EXOC4 423 R Q EPSAQLSYASTGREFAAFFAKKKPQ EPSAQLSYASTGQEFAAFFAKKKPQ Substitution FKTN 359 G E GKVEDSLELSFQGKDDVKLDVFFFY GKVEDSLELSFQEKDDVKLDVFFFY Substitution FLNA 2049 R C VVISQSEIGDASRVRVSGQGLHEGH VVISQSEIGDASCVRVSGQGLHEGH Substitution FLNC 2595 P S IVGSPFKAKVTGPRLSGGHSLHETS IVGSPFKAKVTGSRLSGGHSLHETS Substitution FREM1 1200 G E TQKPRHGLLIDRGFSKDFSENKQPA TQKPRHGLLIDREFSKDFSENKQPA Substitution TMG4 FSCN1 484 T A GDHAGVLKASAETVDPASLWEY GDHAGVLKASAEAVDPASLWEY Substitution GAA 144 S F SYPSYKLENLSSSEMGYTATLTRTT SYPSYKLENLSSFEMGYTATLTRTT Substitution GNB5 84 P S DMKTALALYEFPPMGLLSALDHGII DMKTALALYEFPSMGLLSALDHGII Substitution GNB5 377 P L GHENRVSTLRVSPDGTAFCSGSWDH GHENRVSTLRVSLDGTAFCSGSWDH Substitution GPATCH8 865 S F RSRSGRRHSSHRSSRRSYSSSSDAS RSRSGRRHSSHRFSRRSYSSSSDAS Substitution GPR98 6009 R Q YVLVMNDEHTERRYLLFFLLSWGLP YVLVMNDEHTERQYLLFFLLSWGLP Substitution GPRIN1 887 P L PMTPQAAAPPAFPEVRVRPGSALAA PMTPQAAAPPAFLEVRVRPGSALAA Substitution GSE1 718 R Q LKPGSPYRPPVPRAPDPAYIYDEFL LKPGSPYRPPVPQAPDPAYIYDEFL Substitution HIF3A 17 E K LQRARSTTELRKEKSRDAARSRRSQ LQRARSTTELRKKKSRDAARSRRSQ Substitution HIF3A 15 E K WQDHRSTTELRKEKSRDAARSRRSQ WQDHRSTTELRKKKSRDAARSRRSQ Substitution IFIT5 98 G E SDKEEVRSLVTWGNYAWVYYHMDQL SDKEEVRSLVTWENYAWVYYHMDQL Substitution IFT140 1141 R K CSDFFIEHSQYERAVELLLAARKYQ CSDFFIEHSQYEKAVELLLAARKYQ Substitution IK 555 P L KKMEADGVEVKRPKY KKMEADGVEVKRLKY Substitution INF2 196 T I ELSGSDNVPYVVTLLSVINAVILGP ELSGSDNVPYVVILLSVINAVILGP Substitution IRF2BP1 7 S F MASVQASRRQWCYLCDLPKMPWAMV MASVQAFRRQWCYLCDLPK Substitution ITCH 831 V I IDNEKRMRLLQFVTGTCRLPVGGFA IDNEKRMRLLQFITGTCRLPVGGFA Substitution TMG5 ITPR3 290 H N SSNALWEVEVVHHDPCRGGAGHWNG SSNALWEVEVVHNDPCRGGAGHWNG Substitution KAZN 409 T I QRKSLDPGLFDGTAPDYYIEEDADW QRKSLDPGLFDGIAPDYYIEEDADW Substitution KDM7A 758 D N YSTCLQRQIQSTDCSGERNSLQDPS YSTCLQRQIQSTNCSGERNSLQDPS Substitution KIF16B 1009 L P REKQQREALERALARLERRHSALQR REKQQREALERAPARLERRHSALQR Substitution KRT10 547 S Y SGGGGGGYGGGSSGGGSSSGGGYGG SGGGGGGYGGGSYGGGSSSGGGYGG Substitution LPHN2 803 R Q TQGCKLVDTNKTRTTCACSHLTNFA TQGCKLVDTNKTQTTCACSHLTNFA Substitution LTBP4 281 P L DDFEALCNVLRPPAYSPPRPGGFGL DDFEALCNVLRPLAYSPPRPGGFGL Substitution MBNL2 119 G S GTPLHPVPTFPVGPAIGTNTAISFA GTPLHPVPTFPVSPAIGTNTAISFA Substitution MED4 173 R W VCAPLTWVPGDPRRPYPTDLEMRSG VCAPLTWVPGDPWRPYPTDLEMRSG Substitution MFI2 190 R K ETSYSESLCRLCRGDSSGEGVCDKS ETSYSESLCRLCKGDSSGEGVCDKS Substitution MITF 194 P L KFEEQNRAESECPGMNTHSRASCMQ KFEEQNRAESECLGMNTHSRASCMQ Substitution MOSPD3 141 P L KDITSILRAPAYPLELQGQPDPAPR KDITSILRAPAYLLELQGQPDPAPR Substitution MTHFD2L 138 P L ELLDVTDQLNMDPRVSGILVQLPLP ELLDVTDQLNMDLRVSGILVQLPLP Substitution MYH9 1576 R Q AMKAQFERDLQGRDEQSEEKKKQLV AMKAQFERDLQGQDEQSEEKKKQLV Substitution NBPF9 217 M I VSAGPLSSEKAEMNILEINEKLHPQ VSAGPLSSEKAEINILEINEKLHPQ Substitution NCLN 202 A V GVQSKAVSDWLIASVEGRLTGLGGE GVQSKAVSDWLIVSVEGRLTGLGGE Substitution TMG6 NCOA2 593 S F DSKDCFGLYGEPSEGTTGQAESSCH DSKDCFGLYGEPFEGTTGQAESSCH Substitution NELL1 433 E K GYISVQGDSAYCEDIDECAAKMHYC GYISVQGDSAYCKDIDECAAKMHYC Substitution NFKB1 618 S F GADLSLLDRLGNSVLHLAAKEGHDK GADLSLLDRLGNFVLHLAAKEGHDK Substitution NOL6 380 Q L TMSGYQVLRSVLQFLATTDLTVNGI TMSGYQVLRSVLLFLATTDLTVNGI Substitution NOL6 380 Q L TMSGYQVLRSVLQFLDLTVNGISLC TMSGYQVLRSVLLFLDLTVNGISLC Substitution NOL8 291 R C KLHSLIGLGIKNRVSCHDSDDDIMR KLHSLIGLGIKNCVSCHDSDDDIMR Substitution NPIPB5 388 P L PLPPSADDNLKTPSERQLTPLPPSA PLPPSADDNLKTLSERQLTPLPPSA Substitution NQO2 103 P S KVREADLVIFQFPLYWFSVPAILKG KVREADLVIFQFSLYWFSVPAILKG Substitution PABPC5 183 P L NNRQVYVGRFKFPEERAAEVRTRDR NNRQVYVGRFKFLEERAAEVRTRDR Substitution PAM 861 G D KMQEKQKLIKEPGSGVPVVLITTLL KMQEKQKLIKEPDSGVPVVLITTLL Substitution PARP10 1015 P L TCEHVPRASPDDPSGLPGRSPDT TCEHVPRASPDDLSGLPGRSPDT Substitution PCDH18 886 D N GRGDSEAGDSDYDLGRDSPIDRLLG GRGDSEAGDSDYNLGRDSPIDRLLG Substitution PCSK7 14 P L PKGRQKVPHLDAPLGLPTCLWLELA PKGRQKVPHLDALLGLPTCLWLELA Substitution PHIP 166 P L KLNGKYRLERLVPTAVYQHMKMHKR KLNGKYRLERLVLTAVYQHMKMHKR Substitution PHOSPHO2-KLHL23 268 S F IYNALNPMHKEISQRSTATMYIIGG IYNALNPMHKEIFQRSTATMYIIGG Substitution PI4K2A 162 L F VFKPKNEEPYGHLNPKWTKWLQKLC VFKPKNEEPYGHFNPKWTKWLQKLC Substitution TMG7 PRR14L 2020 P S KKVSQIRIRKTIPRPDPNLTPMGLP KKVSQIRIRKTISRPDPNLTPMGLP Substitution PRRC2A 1098 P S ETRSEGSEYEEIPKRRRQRGSETGS ETRSEGSEYEEISKRRRQRGSETGS Substitution PTPN11 426 H Y TVWQYHFRTWPDHGVPSDPGGVLDF TVWQYHFRTWPDYGVPSDPGGVLDF Substitution RALGDS 629 H Y AALQPAGGRLLYHPRQPGRGQWQHV AALQPAGGRLLYYPRQPGRGQWQHV Substitution RAP1GDS1 571 E K ICALMGSECLHKEVQDLAFLDVVSK ICALMGSECLHKKVQDLAFLDVVSK Substitution RNF145 256 P S ALGMSLWNQLVVPVLFMVFWLVLFA ALGMSLWNQLVVSVLFMVFWLVLFA Substitution RPL11 97 NFS NS GLKVREYELRKNNFSDTGNFGFGIQ GLKVREYELRKNNSDTGNFGFGIQE deletion RRBP1 436 Q P GAQNQGKKAEGAQNQGKKAEGAQNQ GAQNQGKKAEGAPNQGKKAEGAQNQ Substitution SCRIB 1561 S F TPVEDLGPQTSTSPGRLPLSGKKFD TPVEDLGPQTSTFPGRLPLSGKKFD Substitution SCRIB 1561 S F TPVEDLGPQTSTSPGRLSPDFAEEL TPVEDLGPQTSTFPGRLSPDFAEEL Substitution SEC31A 435 E K QQHHVFISQVVTEKEFLSRSDQLQQ QQHHVFISQVVTKKEFLSRSDQLQQ Substitution SENP5 503 L F ASPVDDEQLSVCLSGFLDEVMKKYG ASPVDDEQLSVCFSGFLDEVMKKYG Substitution SERINC2 143 L F GLVLLRRRGLLPLHPHPAGAAHRLC GLVLLRRRGLLPFHPHPAGAAHRLC Substitution SETD2 1501 C Y KSHRDIKRMQCECTPLSKDERAQGE KSHRDIKRMQCEYTPLSKDERAQGE Substitution SH3TC2 243 H Y LVSALEPLPLPFHQWFLKNYPGSCG LVSALEPLPLPFYQWFLKNYPGSCG Substitution SLC30A5 594 L P GGGMNANMRGVFLHVLADTLGSIGV GGGMNANMRGVFPHVLADTLGSIGV Substitution TMG8 SLIT2 715 G E QDVAIQDFTCDDGNDDNSCSPLSRC QDVAIQDFTCDDENDDNSCSPLSRC Substitution SNW1 499 F L GREGPVQFEEDPFGLDKFLEEAKQH GREGPVQFEEDPLGLDKFLEEAKQH Substitution SON 1927 R C RKTVRARSRTPSRRSRSHTPSRRRR RKTVRARSRTPSCRSRSHTPSRRRR Substitution SPATA20 285 P S EEYGGFAEAPKFPTPVILSFLFSYW EEYGGFAEAPKFSTPVILSFLFSYW Substitution ST6GALNAC3 252 P L DTYCKTEGYRKVPYHYYEQGRDECD DTYCKTEGYRKVLYHYYEQGRDECD Substitution ST6GALNAC3 151 P L TGKDRTEGYRKVPYHYYEQGRDECD TGKDRTEGYRKVLYHYYEQGRDECD Substitution STS 532 E K EPRFYEILKVMQEAADRHTQTLPEV EPRFYEILKVMQKAADRHTQTLPEV Substitution SZT2 1576 S