Gene Haploinsufficency Index (%) pLi Score Cohort Polymorphism Rate (%) ACSF3 79.2 0 0 ACVR1 3.27 0.924 14 ADAP1 69.81 0.858 2.5 ADCY5 11.41 0.999 5.56 ADNP 9.79 0.998 3.54 AFF2 2.76 0.997 90 AFF3 20.57 1 59.09 AFF4 11.5 1 0 AGO1 2.94 1 2 AGO4 14.04 0.993 7 AHDC1 18.42 0.999 0.5 AIFM1 6.56 0.994 0 AKT3 2.71 0.999 53 AMER1 62.06 0.985 2.53 ANKH 40.3 0.111 50.5 ANKRD11 75.55 1 50 AP1S2 10.13 0.781 3 AP2S1 37.41 0.905 7.5 AP4E1 43.26 0.997 49.5 ARF1 17.12 0.805 9 ARHGAP35 21.6 1 7.5 ARHGEF6 14.42 0.995 0.5 ARID1A 9.63 1 10.5 ARID1B 14.17 1 46 ARID2 11.02 1 65.5 ARMC9 62.2 0 0 ARX 20.25 0.745 15.5 ASCL1 3.46 0.75 51 ASXL1 20.78 0 16.5 ASXL2 43.83 0.979 0 ASXL3 13.78 1 80.3 ATAD3A 65.43 0.336 1.5 ATN1 8.41 0.996 8.25 ATP1A1 33.72 1 4 ATP2A2 26.18 0.994 1 ATP6V0A1 20.07 0.998 11 ATP6V0A2 46.77 0 0 ATP7A 30.07 0.999 0 AUH 64.75 0.005 50 AUTS2 0.51 0.997 35.5 BCL11A 0.61 0.989 6.5 BCL11B 12.44 0.904 62 BCOR 16.71 1 8 BCORL1 36.48 0.991 12.5 BICD2 50 0.228 18.5 BMP2 0.64 0.926 3 BMPR2 1.48 1 23.5 BPTF 36.79 1 4 BRAF 8.98 1 0 BRPF1 15.78 0.999 14 BRSK2 60.26 0.894 16 CABP7 36.64 0.884 5 CACNA1A 35.52 1 16 CACNA1C 8.42 1 0 CACNG2 14.39 0.947 65 CAMK2B 16.28 0.634 18.18 CAMTA1 2.22 1 0.5 CAPN10 53.52 0 0 CASK 3.08 1 50.5 CASZ1 12.36 1 41.24 CBL 3.6 0.01 83.5 CCBE1 44.75 0 0.5 CCNK 16.64 0.995 2 CDC42BPB 65.08 1 5.1 CDH15 74.65 0 0 CDH2 0.55 0.943 52 CDK13 11.16 0.947 57.5 CDK5RAP2 55.08 0 18 CDK8 1.81 0.878 0 CDKL5 13.18 0.995 0 CDON 39.54 0 2 CELF2 1.73 0.998 1 CELF4 4.37 0.952 1.5 CENPF 59.38 0 3 CHD3 16.92 1 26 CHD7 2.4 1 68.5 CLIP1 9.83 0.994 8 CLTCL1 72.86 0 1 CNKSR2 7.56 0.999 65 CNOT3 49.76 1 24 CNTNAP2 4.94 0.005 1 COG6 27.36 0 0.5 COL4A3BP 14.73 0.989 1.5 CREBBP 0.62 1 14.65 CSNK2A1 2.89 0.999 0 CTCF 2.59 0.996 2 CTSA 42.59 0.001 0 CTSD 51.46 0.647 0.5 CTTNBP2 26.94 0.01 50 CUL3 4.57 0.933 48 CUX2 20.94 1 5 CYB5R3 67.3 0.163 6 DEAF1 76.16 0.015 96.5 DEGS1 54.51 0.847 2 DENND5A 20.2 0.998 3.5 DEPDC5 37.92 1 0 DIP2B 27.8 1 94 DLG3 14.46 0.999 49.5 DLL1 4.66 0.998 0 DMD 0.27 1 1 DNMT3A 3.99 0 23 DONSON 35.71 0 48 DPP6 42.27 0.903 3.5 DPYSL5 32.42 0.997 0 DSCAM 11.07 1 9.18 DUSP15 63.28 0 1 DVL3 24.2 0.989 22.5 DYM 20.38 0 2 DYNC1H1 28.69 1 0 DYRK1A 3.69 0.999 0.5 EBF3 3.89 0.997 0.5 EHMT1 62.96 1 14.95 EIF5A 21.7 0.875 13 ELAVL3 18.52 0.78 2 EMX2 7.32 0.93 1.5 EP300 0.67 1 0.5 EPB41L1 14.68 0.989 10.5 ERF 36.32 0.937 1.5 EZH2 3.07 1 1 FAT4 57.14 1 0.5 FBN1 2.53 1 1 FBXO11 4.34 1 5 FBXW7 2.06 1 50 FGD1 18.2 0.95 5 FGF12 3.96 0.74 0 FGFR1 0.42 0.967 0.5 FGFR2 0.5 0.999 4.5 FGFR3 6.4 0.147 7 FKRP 60.13 0.017 15.5 FKTN 13.7 0.003 0.5 FLNA 8.01 1 0 FMN2 13.15 0.976 19 FMR1 2.45 0.297 100 FOSL2 25.31 0.912 0 FOXP1 0.14 0.999 2.5 FRAS1 41.67 0 0 FRMPD4 25.72 0.999 0 GABBR2 15.02 1 27 GABRB3 8.38 0.995 13 GAMT 62.39 0 0.5 GATAD2B 10.42 0.997 5 GDF6 17.17 0.898 0 GDI1 30.35 0.982 6.5 GIGYF1 37.39 0.996 55.61 GJA1 1.17 0.173 0 GLI2 4.89 0.997 2.5 GLI3 20.82 1 33.5 GNAO1 7.72 0.978 39.5 GNAS 8.83 0.999 25 GNB1 22.4 0.992 50.5 GNB2 26.54 0.984 37 GPC3 1.17 0.983 0 GPRIN1 85.54 0.722 63.5 GRHL3 23.63 0.991 0 GRIK2 2.34 0.997 0 GRIN1 45.24 0.929 0.5 GRIN2D 56.67 0.997 50.5 GTF2E2 15.44 0.131 59 GTF2H5 30.21 0.045 4 GTPBP2 30.5 0.989 6.5 HCCS 40.92 0.939 24 HCFC1 41.35 1 0 HCN1 24.96 0.996 9.5 HDAC4 7.56 1 7.5 HECTD1 8.77 1 6 HECTD4 23.9 1 22 HERC1 19.82 1 0.5 HGSNAT 68.49 0 1.5 HIVEP3 41.45 0.838 1.5 HNRNPD 3.61 0.987 47.5 HNRNPU 7.66 1 50.5 HRAS 0.08 0.038 72.22 IDUA 69.73 0 70.41 INPP5E 77.32 0.299 0 INTS1 52.91 0.135 0.5 IQSEC1 55.81 1 4.04 IQSEC3 56.71 0.839 1.5 IRF2BPL 48.88 0.961 22 JAM3 47.11 0.003 1.5 KANSL1 16.23 1 19.7 KAT6A 19 1 52.5 KAT6B 7.97 1 49.5 KCNB1 21.33 0.973 0.5 KCNC1 7.34 0.673 1.5 KCNC3 75 0.815 12 KCND3 7.82 0.934 60 KCNJ11 3.95 0.307 1 KCNK4 56.96 0.149 1 KCNK9 43.67 0.116 8.5 KCNMA1 0.89 0.999 20 KCNQ3 19.77 0.96 13 KCNQ5 12.28 0.998 2.5 KDM1A 5.57 0.999 2.5 KDM5C 11.71 0.999 0.5 KDM6A 4.72 1 14 KDM6B 40.32 1 0 KIAA0232 62.19 1 0 KIF2A 6.85 0.998 0 KMT2A 17.01 1 11 KMT2C 53.58 1 3.5 KMT2E 19.81 1 22.5 KRAS 0.47 0.001 46.5 LAMC3 69.93 0 1 LAMP2 54.6 0.937 2.5 LARP4B 57.09 1 0.5 LDB1 2.25 0.817 1.5 LINGO1 14.58 0.942 1 MACF1 4.28 1 45.5 MAF 13.33 0.411 76.5 MAN1B1 82.46 0 0 MAOA 43.16 0.989 60 MAP2K1 5.71 0.991 0 MAP2K2 38.94 0.824 0 MAPK8IP3 54.75 1 51 MECP2 1.39 0.663 1.5 MED13 5.27 1 31.5 MED13L 7.11 1 9.69 MIB1 10.17 0 1 MLYCD 65.55 0.001 0.5 MOCS1 46.83 0.086 0 MOV10 45.41 0.993 0 MSL2 14.01 0.969 1 MVK 64.65 0.027 0.5 MYO5A 15.8 1 2 NAGLU 67.16 0.006 11 NALCN 24.28 0.007 4.5 NCOA1 1.91 1 3.5 NDE1 35.66 0.139 0 NDUFS3 32.44 0.16 0 NDUFS7 69.79 0.707 0.5 NEDD4L 8.66 1 0 NFATC1 22.25 0.987 0.5 NFE2L3 76.8 0 0 NFIA 0.28 0.999 9 NFIB 0.39 0.984 1.5 NFIX 1.34 0.984 5.79 NHS 3.57 0.999 5.5 NIPBL 3.01 1 2 NKX2-1 1.5 0.068 1.5 NLRP3 75.44 0.632 1 NOG 0.85 0.681 4 NR2F1 2.69 0.963 13.5 NR3C2 4.63 0.992 0.5 NRXN1 0.81 1 3 NRXN2 30.85 1 1 NSD1 29.19 1 0.5 NTNG2 33.16 0.943 51 NTRK2 2.93 1 0 ODC1 13.35 0.927 0.5 PACS1 38.02 1 0 PAFAH1B1 2.21 0.999 85 PAK1 3.16 0.816 5 PAX1 38.4 0.543 0 PAX5 1.77 0.977 0.5 PAX9 1.94 0.297 0 PBX1 0.86 0.86 1 PCDH19 6.65 0.993 22 PDE4D 4.24 0.992 8 PDSS2 16.76 0 48 PEX3 27.6 0.001 0.5 PGAP1 32.33 0.239 0 PHF12 6.42 1 3 PHF2 54.82 0.981 47.94 PHF21A 2.85 1 2 PHF3 36.85 1 0.5 PHIP 12.52 1 9.09 PIGG 73.18 0 45.5 PIGN 42.61 0 1.5 PIGO 35.9 0 0 PIGV 47.94 0.001 12.5 PIK3CA 0.26 1 1 PIK3R2 48.46 0.975 6 PLCB1 5.05 0.995 0.5 PLXNA3 37.46 0.999 1.5 POLA1 0.01 1 0 POMGNT1 12.2 0 44 PORCN 12.63 0.992 1.5 PPM1D 14.25 0.074 1 PPP1CB 4.52 0.995 9.5 PPP1R21 37.35 0.003 34.5 PPP1R9B 54.11 0.995 1 PPP2CA 2.18 0.979 0 PPP3CA 5.1 0.996 27 PPP5C 36.6 0.998 0.5 PRKD1 2.79 0.001 0 PRPF18 17.72 0.068 8.08 PRR12 71.51 1 5.5 PRRT2 70.09 0.266 3 PTCH1 0.48 1 18.5 PTCHD1 6.56 0.936 43.5 PTEN 0.07 0.961 9.5 PTH1R 14.99 0.582 0 PTK7 29.42 0.985 1 PTPN12 3.39 1 96.46 PUF60 24.05 0.781 2 PURA 9.4 0.834 12.5 QRICH1 11.67 1 9 RAC1 0.73 0.497 0.5 RAI1 47.54 0.997 0 RARB 1.32 0.999 0.5 RASIP1 36.86 0.954 0.5 RBM10 31.4 1 0 RBPJ 0.58 1 4.55 RELN 1.1 1 59.5 RLIM 21.45 0.988 0.5 RORB 2.68 0.997 0.5 RPS6KA3 4.88 1 34.85 RUNX2 0.21 0.993 91.5 RYR2 14.03 1 1 SALL1 5.63 0.998 0 SALL3 49.02 0.066 13 SATB1 2.15 0.997 12 SATB2 1.6 0.999 0 SCN1B 48.18 0.184 11.5 SCN8A 5.53 1 5.5 SET 2.03 0.952 1 SETBP1 4.67 0.998 3.5 SETD1A 12.55 1 1 SETD1B 63.56 0.142 1.5 SETD2 8.64 1 76.5 SETD5 12.88 1 32 SGSH 69.12 0 0 SHANK1 76.11 1 12 SHANK2 45.57 1 55 SHANK3 60.1 1 5.5 SHH 0.66 0.9 0 SHOC2 5.7 0.987 5.5 SHROOM4 44.15 0.995 74 SIK1 67.79 0.988 11.5 SIL1 17.56 0.003 0 SIN3A 7.32 1 0.5 SIX3 12.2 0.338 5 SKI 34.04 0.975 49.5 SLC1A2 11.24 0.854 0 SLC4A4 6.26 1 13 SLC6A3 18.93 0.994 0 SLC6A8 22.63 0.988 33.67 SLC9A6 22.85 0.954 0.5 SLC9A7 24.42 0.92 2.5 SMAD4 0.21 0.988 7.5 SMAD6 18.83 0 3 SMARCA4 2.95 1 71.5 SMARCB1 8.07 0.995 4 SMARCC2 20.29 1 7.5 SMURF1 10.7 0.998 50.5 SNX5 51.1 0.698 0.5 SOS1 4.03 1 1.5 SOX10 2.77 0.9 3 SOX11 20.02 0.335 0 SOX2 0.54 0.383 0.5 SOX4 24.67 0.372 50.5 SOX5 0.74 0.998 1 SPAST 9.51 0.999 1.5 SPRED1 13.12 0.783 1.5 SPTLC2 35.71 0.713 1.5 SQSTM1 30.77 0.002 10 SRCAP 34.43 1 0.5 SRSF1 1.47 0.988 49 SRSF11 11.85 1 10.5 STAG1 8.33 1 13 STAG2 9.67 1 0 STT3B 19.32 1 1.5 SUFU 5.1 0.998 1 SYNGAP1 19.65 1 68 TAB2 5.38 0.999 14 TANC2 8.68 1 2.53 TBC1D7 30.46 0 27.5 TBL1XR1 6.88 0.998 25 TCF12 2.07 0.986 0 TCF4 0.38 1 3.5 TCF7L2 0.77 0.995 0.5 TFAP2A 1.19 0.982 2 TGFBR1 1.85 0.913 13.5 THOC2 4.98 1 40.5 TLK2 12.26 1 3 TMEM165 50.37 0.931 0 TMEM63A 61.8 0.001 0 TNPO2 28.97 1 0 TRA2B 8.22 0.996 1 TRIO 25.7 1 52.02 TRIP12 3.78 1 6 TSPAN7 17.96 0.855 13 TUBA1A 4.83 0.799 1 TUBB4A 42.56 0.014 1 TWIST1 5.34 0.574 8 UBTF 9.84 1 97 UNC80 13.16 0.36 1.5 UPF1 33.92 1 1.5 USP7 6.46 1 37.5 USP9X 3.82 1 27.5 VAMP2 15.94 0.822 1 VEZF1 5.55 0.983 5 WAC 9.64 1 12.5 WDFY3 21.08 1 0.5 WDR26 10.72 0.999 7 XYLT1 36.69 0.966 95.41 YTHDF3 6.55 0.968 0.5 YY1 4.22 0.958 48.5 ZBTB10 26.88 0.955 4 ZBTB18 8.38 0.962 9 ZC4H2 20.36 0.813 4.5 ZEB2 0.37 1 0 ZFHX3 2.56 1 95 ZMIZ1 11.32 0.999 7.5 ZMYM2 16.29 1 2 ZMYND11 16.99 1 0.5 ZNF292 26.56 1 1 ZNF592 48.68 0.902 4 ZNF711 30.43 0.985 26 ZSWIM6 10.66 0.358 71.94