Table 1.
Results from the TRAPD Burden test identifying genes which there are an increased number of rare and functional mutations in compared to the gnomAD control dataset
| Gene | Case count HET | Case total AC | Control count HET | Control total AC | P-value DOM | FDR DOM |
|---|---|---|---|---|---|---|
| TENM3 | 22 | 25 | 10,397 | 10,397 | 1.38E-11 | 3.63E-09 |
| CNTN4 | 18 | 24 | 7943 | 7943 | 6.56E-10 | 8.63E-08 |
| ARVCF | 16 | 35 | 7463 | 7463 | 2.11E-09 | 1.85E-07 |
| LRRC7 | 15 | 19 | 5896 | 5896 | 5.54E-09 | 3.22E-07 |
| SCRIB | 23 | 29 | 15,738 | 15,738 | 6.12E-09 | 3.22E-07 |
| DSCAM | 19 | 29 | 10,668 | 10,668 | 1.01E-08 | 4.43E-07 |
| IGFN1 | 19 | 21 | 11,296 | 11,296 | 2.55E-08 | 9.58E-07 |
| TENM2 | 19 | 27 | 12,757 | 12,757 | 3.05E-08 | 1.00E-06 |
| PKP4 | 14 | 23 | 6099 | 6099 | 7.19E-08 | 2.10E-06 |
| IGSF9 | 12 | 21 | 5399 | 5399 | 1.35E-07 | 3.56E-06 |
| SDK2 | 21 | 34 | 15,515 | 15,515 | 1.50E-07 | 3.60E-06 |
| BSG | 13 | 13 | 5935 | 5935 | 3.97E-07 | 8.70E-06 |
| CDH12 | 10 | 14 | 3385 | 3385 | 7.75E-07 | 1.57E-05 |
| CDHR2 | 17 | 18 | 11,950 | 11,950 | 1.91E-06 | 3.58E-05 |
| ROBO4 | 14 | 40 | 8300 | 8300 | 2.89E-06 | 5.07E-05 |
| TENM4 | 16 | 19 | 11,316 | 11,316 | 4.61E-06 | 7.58E-05 |
| DSP | 16 | 22 | 11,613 | 11,613 | 6.43E-06 | 9.95E-05 |
| DSCAML1 | 17 | 20 | 13,138 | 13,138 | 6.92E-06 | 0.000101133 |
| FAT3 | 17 | 20 | 13,747 | 13,747 | 1.27E-05 | 0.000175345 |
| CDHR3 | 10 | 12 | 4738 | 4738 | 1.49E-05 | 0.000196526 |
| DLG2 | 12 | 13 | 7155 | 7155 | 1.84E-05 | 0.000230134 |
| FAT1 | 19 | 32 | 17,582 | 17,582 | 2.22E-05 | 0.000265077 |
| LGALS9C | 6 | 11 | 3035 | 3035 | 2.52E-05 | 0.000288451 |
| IL27RA | 8 | 16 | 3235 | 3235 | 3.96E-05 | 0.000431162 |
| CNTN2 | 11 | 18 | 6510 | 6510 | 4.10E-05 | 0.000431162 |
| DLG4 | 9 | 10 | 4351 | 4351 | 4.95E-05 | 0.000500568 |
| CELSR2 | 16 | 23 | 15,696 | 15,696 | 7.06E-05 | 0.000688141 |
| MYPN | 13 | 21 | 9718 | 9718 | 8.14E-05 | 0.000764551 |
| DSG4 | 10 | 11 | 5991 | 5991 | 0.000107471 | 0.000974654 |
| FBLIM1 | 6 | 7 | 1988 | 1988 | 0.000137799 | 0.001208036 |
| SDK1 | 22 | 32 | 25,737 | 25,737 | 0.000146387 | 0.001241927 |
| DLG1 | 9 | 19 | 5087 | 5087 | 0.000161883 | 0.001330475 |
| DSC2 | 8 | 9 | 4548 | 4548 | 0.000405688 | 0.003154362 |
| CNTN6 | 10 | 10 | 7070 | 7070 | 0.000407788 | 0.003154362 |
| FAT2 | 15 | 17 | 15,114 | 15,114 | 0.000567347 | 0.004263207 |
| CDH22 | 7 | 7 | 3768 | 3768 | 0.000702417 | 0.005131546 |
| LRFN3 | 6 | 10 | 2735 | 2735 | 0.00074463 | 0.005286837 |
| FAM49B | 5 | 5 | 1808 | 1808 | 0.00076504 | 0.005286837 |
| OBSL1 | 12 | 12 | 10,658 | 10,658 | 0.00078398 | 0.005286837 |
| DSG1 | 8 | 11 | 5221 | 5221 | 0.000998318 | 0.006563942 |
| IGSF21 | 6 | 6 | 4011 | 4011 | 0.005041989 | 0.032342515 |
| PODXL | 5 | 9 | 2880 | 2880 | 0.005693263 | 0.03565067 |
| CDH10 | 5 | 5 | 2953 | 2953 | 0.006313734 | 0.038616556 |
| DSC3 | 7 | 9 | 5689 | 5689 | 0.007026878 | 0.042001567 |
| LIMS2 | 6 | 6 | 4350 | 4350 | 0.007409349 | 0.042362149 |
| PODXL2 | 4 | 4 | 1934 | 1934 | 0.007369466 | 0.042362149 |
| CDH6 | 5 | 5 | 3100 | 3100 | 0.007705581 | 0.043118467 |
| CDH9 | 5 | 5 | 3163 | 3163 | 0.008363126 | 0.045151173 |
| PTPRS | 14 | 16 | 17,894 | 17,894 | 0.008412196 | 0.045151173 |
HET Heterozygous, DOM Autosomal dominant model, FDR False discovery rate