Supplementary material J Med Genet Supplemental figures and tables Table S1. Summary of the trio and single proband-based exome sequencing experiment. Sequencing Mean Percent Candidate Total NS/SS/I Family Individual output sequencing target de novo variantsa variantsa (in Gb) Depth (median) ≥ 10X SNV Trio 1 P1 dijex132 3,49 101.13 93.9 47848 14369 1 Mother dijex133 3,18 92.05 94.0 48178 14498 - Father dijex134 3,19 92.29 94.0 46912 14019 - Trio 2 P2 dijex135 3,23 93.38 94.0 48097 14526 1 Mother dijex136 3,63 105.11 94.4 48258 14480 - Father dijex137 3,32 96.19 94.0 47934 14657 - Trio 3 P3 dijex138 3,19 92.38 93.5 48365 14504 2 Mother dijex139 3 86.75 93.8 48229 14400 - Father dijex140 3,43 99.31 94.1 48035 14540 - Trio 4 P4 dijex141 3,42 98.89 94.5 47107 14126 2 Mother dijex142 3,69 106.78 94.4 47583 14365 - Father dijex143 3,38 97.81 94.3 48296 14667 - Trio 5 P5 dijex144 3,02 87.48 93.8 47648 14425 3 Mother dijex145 3,16 91.37 93.9 47284 14275 - Father dijex146 3,3 95.66 93.9 47964 14589 - Trio 6 P6 dijex147 3,51 101.74 94.1 48192 14568 3 Mother dijex148 3,15 91.20 93.8 48211 14638 - Father dijex149 3,11 90.12 93.8 47109 14178 - Trio 7 P7 dijex150 3,23 93.64 94.4 47648 14393 2 Mother dijex151 3,66 105.85 94.6 48040 14633 - Father dijex152 3,06 88.55 94.1 47950 14557 - Trio 8 P8 dijex153 3,18 91.99 94.0 48028 14633 4 Mother dijex154 3,42 99.05 94.0 48065 14472 - Father dijex155 3,43 99.40 94.0 48475 14635 - Trio 9 P9 dijex156 3,41 98.83 94.3 48682 14759 2 Mother dijex157 3,21 92.90 94.0 47604 14276 - Father dijex158 3,18 92.14 93.7 47682 14477 - Trio 10 P10 dijex159 2,85 82.49 93.6 47162 14193 1 Mother dijex160 3,02 87.53 93.7 47015 14266 - Father dijex161 3,66 105.82 94.0 47922 14530 - Trio 11 P11 dijex240 4,55 131.82 94.4 47777 14297 0 Mother dijex241 3,82 110.64 94.2 48415 14548 - Father dijex242 4,23 122.57 94.6 47923 14330 - Trio 12 P12 dijex244 2,9 84.10 93.7 47602 14441 2 Mother dijex245 3,44 99.63 94.1 47781 14564 - Father dijex246 2,85 82.45 93.7 48235 14841 - Trio 13 P13 dijex250 3,56 102.96 93.4 49688 15008 4 Mother dijex251 3,43 99.19 94.3 47888 14526 - Father dijex252 3,37 97.56 94.1 48549 14718 - Trio 14 P14 dijex253 3,02 87.49 93.8 47912 14322 3 Mother dijex254 4,27 123.50 94.6 48149 14513 - Father dijex255 3,12 90.42 94.0 48015 14327 - Trio 15 P15 dijex256 2,66 77.03 93.4 47958 14517 3 Mother dijex257 3,16 91.52 94.0 47898 14533 - Father dijex258 3,4 98.52 94.1 47962 14357 - 1 Chevarin M, et al. J Med Genet 2020;0:1–9. doi: 10.1136/jmedgenet-2019-106425 Supplementary material J Med Genet Trio 16 P16 dijex374 2,89 83.66 94.0 55874 16557 0 Mother dijex376 3,01 87.24 94.2 57333 17154 - Father dijex375 3,01 87.21 94.2 56358 16861 - Trio 17 P17 dijex380 3,03 87.59 94.2 48224 14622 1 Mother dijex382 3,31 95.79 94.3 48945 14852 - Father dijex381 3,19 92.31 94.3 49171 15121 - Trio 18 P18 dijex377 3,07 89.01 94.3 47841 14520 2 Mother dijex379 3,02 87.42 94.2 48018 14594 - Father dijex378 3,25 94.09 94.3 48139 14539 - Trio 19 P19 dijex397 2,78 80.48 93.4 48341 14717 3 Mother dijex399 3,34 96.68 93.9 49299 15038 - Father dijex398 3,88 112.28 94.3 49618 15164 - Trio 20 P20 dijex265 3,35 97.00 94.3 48951 14806 1 Mother dijex393 3,29 95.25 93.7 47506 14352 - Father dijex392 3,29 95.15 93.9 49258 14968 - Trio 21 P21 dijex272 2,94 85.04 93.8 48799 14735 1 Mother dijex395 2,63 76.23 93.1 47352 14327 - Father dijex394 3,15 91.21 93.7 47966 14509 - Trio 22 P22 dijex383 3,24 93.68 94.1 48134 14494 1 Mother dijex385 3,13 90.63 94.3 49245 14972 - Father dijex384 3,31 95.70 94.5 49344 15058 - Trio 23 P23 dijex412 2,24 64.81 92.5 50721 15564 1 Mother dijex413 2,19 63.49 91.9 50642 15781 - Father dijex414 2,60 75.14 94.0 50727 15345 - Trio 24 P24 dijex758 3,52 101.96 96.5 49726 15181 2 Mother dijex759 3,63 105.22 96.4 50321 15479 - Father dijex760 3,69 106.72 96.3 49637 15195 - Trio 25 P25 dijex761 3,54 102.52 96.2 49847 15187 2 Mother dijex762 3,02 87.40 95.3 50109 15319 - Father dijex763 3,56 103.04 95.3 49315 15146 - Trio 26 P26 dijex838 5,34 154.69 96.7 52024 15681 2 Mother dijex839 3,29 95.16 95.6 51028 15515 - Father dijex840 3,14 90.84 95.4 50760 15436 - Trio 27 P27 dijex841 3,29 95.16 94.3 50051 15336 0 Mother dijex842 3,39 98.24 91.1 50603 15684 - Father dijex843 2,86 82.76 94.1 50754 15641 - Trio 28 P28 dijex879 4,67 135.12 95.9 48101 14483 2 Mother dijex880 2,96 85.68 94.5 48318 14761 - Father dijex881 2,89 83.62 94.4 47376 14402 - Trio 29 P29 dijex882 3,14 90.80 94.7 48538 14924 4 Mother dijex884 3,34 96.55 94.5 48458 14837 - Father dijex883 2,73 78.94 94.4 48003 14708 - Trio 30 P30 dijex905 3,15 91.09 94.6 48744 14886 2 Mother dijex906 3,07 88.93 94.5 48592 14859 - Father dijex907 3,32 96.25 94.7 48866 14898 - Trio 31 P31 dijex908 3,73 107.96 95.0 48714 14914 3 Mother dijex909 3,33 96.33 94.9 48419 14945 - Father dijex910 3,32 96.20 94.7 47989 14625 - Trio 32 P32 dijex911 3,27 94.72 94.8 48169 14623 1 Mother dijex912 3,44 99.66 95.0 48409 14746 - Father dijex913 3,34 96.71 94.6 47853 14556 - Trio 33 P33 dijex1277 3,29 95.18 95.8 58552 17553 1 + CNV Mother dijex1315 2,88 83.32 95.7 59246 17930 - Father dijex1316 3,32 96.22 96.3 59522 17894 - 2 Chevarin M, et al. J Med Genet 2020;0:1–9. doi: 10.1136/jmedgenet-2019-106425 Supplementary material J Med Genet Solo 1 P34 dijex260 3,31 95.91 94.4 50938 15524 1 Solo 2 P35 dijex261 2,91 84.38 93.8 47796 14360 1 Solo 3 P36 dijex262 3,45 99.82 94.4 48560 14788 1 Solo 4 P37 dijex270 3,26 94.35 94.4 47250 14231 1 Solo 5 P38 dijex271 3,41 98.68 94.3 47740 14341 1 Solo 6 P39 dijex273 2,9 84.05 93.8 47212 14141 0 Solo 7 P40 dijex239 3,22 93.15 93.9 48447 14658 1 Solo 8 P41 dijex243 3,18 92.06 93.8 47813 14403 1 Solo 9 P42 dijex247 2,9 84.02 93.8 47995 14656 0 Solo 10 P43 dijex680 3,18 92.11 94.4 48882 14823 0 Solo 11 P44 dijex673 4,23 122.60 96.4 55694 16885 1 Solo 12 P45 dijex917 3,54 102.57 94.9 51197 15446 0 Solo 13 P46 dijex918 2,79 80.70 94.3 48151 14731 1 Solo 14 P47 dijex919 2,96 85.80 94.4 51849 15575 1 Solo 15 P48 dijex927 3,43 99.30 94.8 48267 14630 0 Solo 16 P49 dijex676 4,09 118.36 96.6 49411 15095 1 Solo 17 P50 dijex1278 3,61 104.42 96.1 49938 15168 0 Solo 18 P51 dijex1279 3,99 115.47 96.2 58548 17715 0 Solo 19 P52 dijex1292 3,91 113.10 96.3 49345 15119 1 Solo 20 P53 dijex1317 3,42 99.03 96.7 49705 14872 0 Solo 21 P54 dijex1383 4,68 135.44 96.9 50328 15152 0 Solo 22 P55 dijex1299 3,17 91.68 95.9 50286 15296 0 Solo 23 P56 dijex814 3,18 92.20 96.3 49657 15060 1 Solo 24 P57 dijex465 3,41 98.85 96.0 51337 15765 1 Solo 25 P58 dijex926 3,20 92,87 94,9 47414 14357 1 Solo 26 P59 dijex268 3,16 91.61 93.5 48320 14847 1 Solo 27 P60 dijex249 3,16 91.43 94.1 58020 17446 1 Solo 28 P61 dijex264 2,97 85.97 93.7 51780 15566 1 Solo 29 P62 dijex266 3,30 95.56 94.1 48566 14737 2 Solo 30 P63 dijex263 3,14 90.98 94.0 57077 17098 4 Solo 31 P64 dijex1509 3,36 97.48 96.6 60377 16569 1 Gb, gigabases; NS/SS/I, nonsynonymous changes, splice-site variants and insertions/deletions. aVariants that passed on the Genome Analysis Toolkit (GATK) hard-filtering parameters used for variant calling.