Supplementary Table 1. Information on the 174 single nucleotide variants identified by whole-exome sequencing

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1 Supplementary Table 1. Information on the 174 single nucleotide s identified by whole-exome sequencing Chr Position Type AF exomes Database A/G UBE4B missense Damaging C/G PUM1 missense Damaging C/T GJA9 missense dbsnp Damaging G/A TOE1 missense Damaging C/T C1orf175 missense Damaging G/A GBP5 nonsense NA alignment NA A/G BCAR3 missense Damaging C/T NBPF9 nonsense NA alignment NA C/T ARHGEF11 missense Damaging C/A ARHGEF11 missense Damaging T/A ABL2 missense dbsnp Damaging G/A PLXNA2 missense Damaging C/A PLXNA2 missense dbsnp Damaging G/C KCNH1 missense Damaging G/T ZNF124 nonsense dbsnp 7 NA alignment NA G/T NBAS missense Damaging G/A NBAS missense Damaging G/A HS1BP3 missense dbsnp Damaging T/G SUPT7L missense Damaging C/T SLC4A1AP missense Genomes Damaging C/T ASB3 missense Damaging T/C ASB3 missense Damaging C/T PLEK missense Damaging T/C APLF missense Damaging C/T LOXL3 missense Genomes Damaging G/A SEMA4F missense Damaging G/T POLR1A nonsense Genomes 11 NA alignment NA Artifact of of

2 Chr Position Type AF exomes Database of C/T TBC1D8 missense Damaging t A/T ZC3H6 missense damaging G/A GALNT5 missense A/G DNAH7 missense Genomes 7 of t damaging Damaging G/T XRCC5 missense dbsnp 5 benign Damaging A/T CHL1 missense Damaging G/T ANO10 nonsense NA alignment NA C/T ZNF501 missense Genomes alignment G/A EXOSC7 missense Damaging C/T LTF splice NA alignment NA G/T PTH1R missense Genomes alignment T/C KIF9 missense Genomes Damaging G/A UBA7 missense Damaging T/A PCBP4 missense Damaging G/A TMF1 missense Genomes Damaging T/A VGLL3 missense Genomes Damaging C/T KIAA1407 missense Damaging C/T PIK3R4 missense Damaging G/A HRASLS splice Genomes 10 NA alignment NA G/A NCAPG,LCORL missense Damaging C/G PTPN13 missense Damaging A/G ALPK1 missense dbsnp Damaging t G/A ALPK1 missense dbsnp 11 benign damaging T/C ALPK1 missense Genomes Damaging A/G INPP4B missense dbsnp Damaging

3 Chr Position Type AF exomes Database of of alignment NA G/A DDX60L nonsense NA A/G C6 splice Genomes 11 NA alignment NA T/G DHX29 missense Damaging C/T HEXB missense Damaging G/A IQGAP2 missense Damaging C/G EDIL3 missense Damaging G/T CDO1 missense Damaging C/T ALDH7A1 missense Genomes Damaging ANKHD1,ANKHD G/T EIF4EBP3 missense Damaging G/T KIAA0141 nonsense NA alignment NA WRNIP1, A/G LOC missense Genomes 12 benign Damaging G/C KIF13A missense Genomes Damaging T/G KIF13A missense Damaging G/A CDKAL1 missense Damaging C/T DOM3Z,STK19 missense alignment T/C PBX2 missense Damaging C/A BTNL2 missense Genomes Damaging t C/T BTNL2 missense Genomes damaging C/T MAPK13 missense dbsnp Damaging alignment NA T/C SESN1 nonsense NA CTGF, T/C LOC missense Damaging C/T FNDC1 missense dbsnp Damaging C/G RADIL,PAPOLB missense Genomes alignment NA G/A VWDE nonsense NA alignment NA HOXA5, A/T LOC missense Damaging

4 Chr Position Type AF exomes Database of T/C GLI3 missense dbsnp Damaging C/A C7orf69,PKD1L1 splice NA of alignment NA T/C DTX2 missense Damaging G/C DMTF1 missense Genomes Damaging C/T GATAD1 missense Genomes Damaging A/G SAMD9L missense Genomes Damaging G/A CALCR missense alignment NA T/C TECPR1 missense Damaging A/C FOXP2 missense Damaging Artifact C/T NAT1 nonsense dbsnp 11 NA alignment NA C/T ANK1 missense Damaging A/G SULF1 missense Genomes Damaging T/C RAD54B missense Damaging A/C KIF24 missense dbsnp t damaging alignment NA G/T ALAD nonsense NA C/A RABEPK missense Genomes Damaging C/T ZNF438 missense Damaging G/C KIF5B missense Damaging t C/T PARD3 missense damaging G/A ASAH2 nonsense Genomes 15 NA alignment NA G/A ANK3 missense Damaging G/T ANK3 nonsense NA alignment NA Artifact T/C CASP7 missense Damaging A/G FANK1 missense dbsnp Damaging T/C INPP5A missense Damaging G/A LRDD missense dbsnp Damaging G/C TM7SF2 missense Damaging

5 Type exomes Chr Position AF Database C/T SLC25A45 missense Genomes Damaging G/A SCYL1 missense Damaging G/A FOXM1 missense dbsnp 8 of of Damaging G/A MLL2 missense Genomes Damaging G/C ITGA7 missense Damaging G/A RASAL1 missense Damaging G/T RPLP0 nonsense NA alignment NA Artifact C/T WDR66 missense Damaging G/A SFRS8 missense Damaging C/T OLFM4 nonsense Genomes 17 NA alignment NA A/G DIS3 nonsense NA alignment NA C/T MYCBP2 missense Genomes Damaging G/A TEP1 missense Damaging C/T TEP1 missense Damaging A/G WDHD1 missense Genomes Damaging T/C KTN1 missense Genomes t damaging T/C MUDENG missense Damaging t C/T ZWILCH missense damaging C/G MYO9A missense alignment G/A CHRNB4 missense dbsnp Damaging G/C ANPEP missense Damaging G/A IGF1R missense dbsnp Damaging G/A PKD1 missense Damaging C/G BTBD12 missense Damaging t T/C MKL2 missense Genomes 4, 10 benign damaging G/A XYLT1 missense dbsnp Damaging

6 Chr Position Type AF exomes Database of A/C PALB2 missense dbsnp Damaging G/A FBXL19 missense dbsnp 9 of Damaging C/A NKD1 missense Damaging G/A WWOX missense Damaging C/A DPEP1 nonsense NA alignment NA C/T ARRB2 missense Damaging C/T WDR16 missense dbsnp Damaging A/T FLII missense Damaging C/T SGK494 splice NA alignment NA G/A NEK8 missense Damaging G/A TRAF4 missense Genomes Damaging A/G AFMID splice NA alignment NA A/G LAMA1 missense Damaging C/T DSG4 missense dbsnp Damaging G/A ASXL3 missense alignment NA G/A SLC39A6 missense Damaging C/A ZNF554 nonsense NA alignment NA G/C XAB2 missense Damaging G/T CCDC130 missense Damaging G/A CASP14 missense Damaging C/A LSR nonsense NA alignment NA C/A PRODH2 splice NA alignment NA C/G AKT2 missense Damaging C/T GEMIN7 nonsense NA alignment NA A/T DHDH missense Damaging

7 Chr Position Type AF exomes Database A/T TRPM4 nonsense NA alignment NA C/T PNKP missense dbsnp Damaging G/A MYBPC2 missense Genomes Damaging C/T ZNF320 missense alignment t C/T LILRA3 missense damaging C/G LILRA3 splice dbsnp 9 NA alignment NA C/A C20orf26 missense Genomes alignment NA C/T DNMT3B missense dbsnp Damaging C/T ZHX3 missense Damaging C/T TUBB1 nonsense NA alignment NA G/T PRMT2 splice NA alignment NA C/T ASPHD2 missense Damaging G/C RNF215 missense Damaging C/G C22orf30 missense dbsnp t damaging C/A C22orf30 missense Damaging A/G EP300 missense Damaging C/A EFCAB6 missense , Damaging G/A C22orf9 nonsense NA alignment G/A SAPS2 missense Damaging of of

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