AutismKB 2.0

View de novo Variants from PubMed ID: 25363760


Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.

Gene ID Gene Symbol Chr Position Effect Ref Alt Coding Change Protein Change Validation iFish Probability iFish Prediction
AutG26155NOC2L 1 881802 missense C T Sanger sequencing 0.7788 deleterious
AutG339451KLHL17 1 897739 missense T C Sanger sequencing 0.9882 deleterious
AutG83858ATAD3B 1 1423250 missense C T Sanger sequencing 0.0078 neutral
AutG339456TMEM52 1 1849510 missense G C Sanger sequencing 0.9216 deleterious
AutG6497SKI 1 2234766 nonsense C T Sanger sequencing
AutG26038CHD5 1 6191718 missense G A Sanger sequencing 0.9601 deleterious
AutG11332ACOT7 1 6420658 missense T C Sanger sequencing 0.0017 neutral
AutG3104ZBTB48 1 6642301 missense G A Sanger sequencing 0.5478 deleterious
AutG473RERE 1 8418823 missense C T Sanger sequencing 0.8377 deleterious
AutG55187VPS13D 1 12336770 missense C T Sanger sequencing 0.9913 deleterious
AutG343066AADACL4 1 12726725 synonymous C G Sanger sequencing
KAZN 1 15430600 missense G A Sanger sequencing 0.8794 deleterious
AutG55092TMEM51 1 15545879 synonymous C T Sanger sequencing
AutG54751FBLIM1 1 16096936 missense C T Sanger sequencing 0.3235 neutral
AutG23013SPEN 1 16235920 missense A C Sanger sequencing 0.9211 deleterious
AutG1188CLCNKB 1 16375706 missense G A Sanger sequencing 0.4111 neutral
AutG9696CROCC 1 17250836 synonymous A G Sanger sequencing
AutG29943PADI1 1 17531782 missense G A Sanger sequencing 0.4716 deleterious
AutG51702PADI3 1 17596738 missense T G Sanger sequencing 0.0927 neutral
AutG23352UBR4 1 19446711 missense G A Sanger sequencing 0.5125 deleterious
AutG127733UBXN10 1 20517220 missense G A Sanger sequencing 0.0251 neutral
AutG5909RAP1GAP 1 21929359 synonymous C T Sanger sequencing
AutG3339HSPG2 1 22174444 missense C T Sanger sequencing
AutG2048EPHB2 1 23233357 synonymous C T Sanger sequencing
AutG10236HNRNPR 1 23637156 missense G A Sanger sequencing 0.0488 neutral
AutG163702IL28RA 1 24507257 missense T C Sanger sequencing
AutG149420PDIK1L 1 26449034 missense A G Sanger sequencing 0.5355 deleterious
AutG8289ARID1A 1 27088806 synonymous A T Sanger sequencing
AutG2035EPB41 1 29379632 synonymous G A Sanger sequencing
AutG9672SDC3 1 31346198 missense C T Sanger sequencing 0.7468 deleterious
AutG9698PUM1 1 31437728 missense G A Sanger sequencing 0.9109 deleterious
AutG9410SNRNP40 1 31754296 synonymous C A Sanger sequencing
AutG347735SERINC2 1 31905923 missense C G Sanger sequencing 0.0745 neutral
AutG8073PTP4A2 1 32374546 missense C T Sanger sequencing
AutG55116TMEM39B 1 32557520 missense A G Sanger sequencing 0.9962 deleterious
AutG57648KIAA1522 1 33236926 missense C G Sanger sequencing 0.1193 neutral
AutG23154NCDN 1 36026645 missense C T Sanger sequencing 0.0399 neutral
AutG192670EIF2C4 1 36282630 missense G T Sanger sequencing
AutG192670EIF2C4 1 36306838 missense G T Sanger sequencing
AutG192669EIF2C3 1 36474610 missense G A Sanger sequencing
AutG2980GUCA2A 1 42629116 missense G A Sanger sequencing 0.2221 neutral
AutG22887FOXJ3 1 42647625 synonymous G A Sanger sequencing
AutG149473CCDC24 1 44458012 synonymous C T Sanger sequencing
AutG128209KLF17 1 44595425 missense C G Sanger sequencing 0.2916 neutral
AutG55929DMAP1 1 44680521 missense G A Sanger sequencing 0.7376 deleterious
AutG23139MAST2 1 46500523 synonymous G A Sanger sequencing
AutG23139MAST2 1 46501219 synonymous A G Sanger sequencing
AutG127343DMBX1 1 46977822 missense C A Sanger sequencing 0.4772 deleterious
AutG22996TTC39A 1 51771704 missense T C Sanger sequencing 0.0234 neutral
AutG114883OSBPL9 1 52253139 missense G C Sanger sequencing 0.0099 neutral
AutG26027ACOT11 1 55060359 missense A G Sanger sequencing 0.2074 neutral
HEATR8 1 55161082 synonymous C T Sanger sequencing
AutG114803MYSM1 1 59147575 missense T C Sanger sequencing 0.1887 neutral
AutG27022FOXD3 1 63789333 missense A T Sanger sequencing 0.9947 deleterious
AutG57685CACHD1 1 65139072 missense T G Sanger sequencing 0.0265 neutral
AutG84251SGIP1 1 67154953 missense G A Sanger sequencing 0.2047 neutral
AutG9295SRSF11 1 70703186 frameshift GA G Sanger sequencing
AutG4438MSH4 1 76282194 frameshift CA C Sanger sequencing
AutG127247ASB17 1 76397917 nonsense G T Sanger sequencing
AutG54680ZNHIT6 1 86173504 missense T A Sanger sequencing 0.0927 neutral
AutG22802CLCA4 1 87043692 missense G A Sanger sequencing 0.2126 neutral
AutG163351GBP6 1 89846032 missense G A Sanger sequencing 0.2803 neutral
AutG8317CDC7 1 91973842 missense G T Sanger sequencing 0.1603 neutral
AutG284697BTBD8 1 92546143 synonymous G A Sanger sequencing
AutG11146GLMN 1 92737032 missense T C Sanger sequencing 0.1096 neutral
AutG22823MTF2 1 93602372 missense G A Sanger sequencing 0.8067 deleterious
AutG343099CCDC18 1 93667486 missense G A Sanger sequencing 0.8601 deleterious
AutG24ABCA4 1 94502713 synonymous A T Sanger sequencing
AutG5825ABCD3 1 94953137 missense A G Sanger sequencing 0.9116 deleterious
AutG148534TMEM56 1 95616924 synonymous A G Sanger sequencing
AutG58155PTBP2 1 97272493 missense G A Sanger sequencing 0.1016 neutral
AutG10451VAV3 1 108138879 missense G C Sanger sequencing 0.0623 neutral
AutG6814STXBP3 1 109315441 missense G A Sanger sequencing 0.715 deleterious
AutG6814STXBP3 1 109321932 missense A G Sanger sequencing 0.9404 deleterious
AutG1435CSF1 1 110456998 missense C T Sanger sequencing 0.159 neutral
AutG85369FAM40A 1 110584430 frameshift GC G Sanger sequencing
AutG54879ST7L 1 113084629 missense T C Sanger sequencing 0.0379 neutral
AutG163259DENND2C 1 115153709 missense C T Sanger sequencing 0.0642 neutral
AutG270AMPD1 1 115217373 frameshift C CT Sanger sequencing
AutG7812CSDE1 1 115276416 synonymous G T Sanger sequencing
AutG476ATP1A1 1 116943617 missense G A Sanger sequencing 0.7546 deleterious
AutG8458TTF2 1 117632812 missense C A Sanger sequencing 0.7743 deleterious
AutG51179HAO2 1 119927556 synonymous C T Sanger sequencing
AutG3284HSD3B2 1 119964751 synonymous G A Sanger sequencing
AutG25832NBPF14 1 148017617 CODON_CHANGE_PLUS_CODON_DELETION ATCCCAGGAC A Sanger sequencing
AutG51107APH1A 1 150238957 nonsense G A Sanger sequencing
AutG51107APH1A 1 150240177 missense C A Sanger sequencing 0.0676 neutral
AutG9869SETDB1 1 150933526 synonymous T C Sanger sequencing
AutG10500SEMA6C 1 151112158 missense C T Sanger sequencing 0.08 neutral
AutG5692PSMB4 1 151372965 missense C A Sanger sequencing 0.9856 deleterious
AutG23126POGZ 1 151379469 frameshift G GGTAC Sanger sequencing
AutG6097RORC 1 151783852 synonymous C T Sanger sequencing
AutG6097RORC 1 151787862 missense C G Sanger sequencing 0.9216 deleterious
AutG388698FLG2 1 152327810 missense C T Sanger sequencing 0.0016 neutral
AutG6271S100A1 1 153604222 missense G A Sanger sequencing 0.3204 neutral
AutG3608ILF2 1 153637720 nonsense G A Sanger sequencing
AutG57198ATP8B2 1 154307007 synonymous C T Sanger sequencing
AutG57198ATP8B2 1 154317610 missense A G Sanger sequencing 0.9271 deleterious
AutG23623RUSC1 1 155296911 missense C A Sanger sequencing 0.0448 neutral
AutG55870ASH1L 1 155448915 frameshift TTA T Sanger sequencing
AutG9181ARHGEF2 1 155932442 missense G A Sanger sequencing 0.3328 neutral
AutG4000LMNA 1 156105767 synonymous C T Sanger sequencing
AutG4209MEF2D 1 156452417 missense G A Sanger sequencing 0.9819 deleterious
AutG9826ARHGEF11 1 156928572 synonymous T C Sanger sequencing
AutG909CD1A 1 158226779 missense G A Sanger sequencing 0.009 neutral
AutG149628PYHIN1 1 158913694 nonsense C T Sanger sequencing
AutG1314COPA 1 160281685 missense T C Sanger sequencing 0.318 neutral
AutG23385NCSTN 1 160327962 synonymous C T Sanger sequencing
AutG27005USP21 1 161130734 missense C T Sanger sequencing 0.1753 neutral
AutG25903OLFML2B 1 161989809 missense G A Sanger sequencing 0.0776 neutral
AutG5087PBX1 1 164532514 frameshift GT G Sanger sequencing
AutG5087PBX1 1 164790805 missense C T Sanger sequencing 0.7503 deleterious
AutG919CD247 1 167410000 synonymous T C Sanger sequencing
AutG92344GORAB 1 170508470 missense C T Sanger sequencing 0.3655 neutral
AutG4653MYOC 1 171621313 nonsense G A Sanger sequencing
AutG284525SLC9A11 1 173493166 missense A G Sanger sequencing
AutG149041RC3H1 1 173947626 missense C T Sanger sequencing 0.8886 deleterious
AutG6646SOAT1 1 179310419 missense T G Sanger sequencing 0.6798 deleterious
AutG163589TDRD5 1 179609178 synonymous G A Sanger sequencing
AutG9857CEP350 1 179985050 missense A G Sanger sequencing 0.828 deleterious
AutG777CACNA1E 1 181721285 synonymous C T Sanger sequencing
AutG127665ZNF648 1 182026889 missense C T Sanger sequencing 0.0771 neutral
AutG83872HMCN1 1 185985113 synonymous T C Sanger sequencing
AutG10216PRG4 1 186276795 synonymous C T Sanger sequencing
AutG5996RGS1 1 192545954 missense T C Sanger sequencing 0.9964 deleterious
AutG5997RGS2 1 192779294 splice A T Sanger sequencing
AutG79577CDC73 1 193111163 frameshift G GAC Sanger sequencing
AutG343450KCNT2 1 196395019 missense C G Sanger sequencing 0.9714 deleterious
AutG23418CRB1 1 197390429 missense G A Sanger sequencing 0.0961 neutral
AutG2494NR5A2 1 200017391 synonymous C T Sanger sequencing
AutG779CACNA1S 1 201009483 missense G C Sanger sequencing 0.4875 neutral
AutG10765KDM5B 1 202724403 frameshift G GC Sanger sequencing
AutG10765KDM5B 1 202742307 missense C G Sanger sequencing 0.9843 deleterious
AutG59349KLHL12 1 202863873 missense C G Sanger sequencing 0.9486 deleterious
AutG9877ZC3H11A 1 203816590 nonsense A T Sanger sequencing
AutG23114NFASC 1 204978698 synonymous C T Sanger sequencing
AutG23114NFASC 1 204978698 synonymous C T Sanger sequencing
AutG5929RBBP5 1 205072989 missense C T Sanger sequencing 0.9969 deleterious
AutG725C4BPB 1 207265132 missense A G Sanger sequencing 0.0307 neutral
DIEXF 1 210016834 missense G A Sanger sequencing 0.6653 deleterious
AutG4751NEK2 1 211843642 missense G A Sanger sequencing 0.9447 deleterious
AutG28982FLVCR1 1 213061871 missense G A Sanger sequencing 0.9997 deleterious
AutG5784PTPN14 1 214557735 missense G A Sanger sequencing 0.9732 deleterious
AutG51133KCTD3 1 215781447 synonymous G A Sanger sequencing
AutG7399USH2A 1 216363573 missense A G Sanger sequencing 0.4483 neutral
AutG10380BPNT1 1 220233081 missense C A Sanger sequencing 0.7625 deleterious
AutG4139MARK1 1 220835211 synonymous G A Sanger sequencing
AutG375056MIA3 1 222805584 missense A G Sanger sequencing 0.0044 neutral
AutG375056MIA3 1 222835428 missense G A Sanger sequencing 0.1112 neutral
AutG8476CDC42BPA 1 227307548 missense T G Sanger sequencing 0.7997 deleterious
AutG6262RYR2 1 237870440 missense C A Sanger sequencing 0.6129 deleterious
AutG1131CHRM3 1 240072255 missense A G Sanger sequencing 0.2073 neutral
AutG1122CHML 1 241798420 missense T A Sanger sequencing 0.8153 deleterious
AutG9156EXO1 1 242015681 synonymous T G Sanger sequencing
AutG10472ZNF238 1 244218501 splice C T Sanger sequencing
AutG159ADSS 1 244583599 splice C A Sanger sequencing
AutG51029PPPDE1 1 244816617 frameshift T TG Sanger sequencing
AutG267002PGBD2 1 249211378 missense A T Sanger sequencing 0.7939 deleterious
AutG26751SH3YL1 2 234212 missense C T Sanger sequencing 0.995 deleterious
AutG23040MYT1L 2 1893073 synonymous G A Sanger sequencing
AutG23040MYT1L 2 1921023 missense G C Sanger sequencing 0.6197 deleterious
AutG23040MYT1L 2 1926950 nonsense G T Sanger sequencing
AutG8853ASAP2 2 9467956 missense A G Sanger sequencing 0.7253 deleterious
AutG79954NOL10 2 10747348 missense A C Sanger sequencing 0.003 neutral
AutG9687GREB1 2 11765413 synonymous G A Sanger sequencing
AutG23620NTSR2 2 11798722 synonymous G A Sanger sequencing
AutG3790KCNS3 2 18113537 frameshift TG T Sanger sequencing
AutG57539WDR35 2 20138107 missense C G Sanger sequencing 0.5125 deleterious
AutG338APOB 2 21229188 missense T G Sanger sequencing 0.5468 deleterious
AutG109ADCY3 2 25042880 missense A G Sanger sequencing 0.6341 deleterious
AutG109ADCY3 2 25057739 missense C T Sanger sequencing 0.3659 neutral
AutG109ADCY3 2 25061366 missense G A Sanger sequencing 0.3659 neutral
AutG51277DNAJC27 2 25180710 missense T G Sanger sequencing 0.743 deleterious
AutG1788DNMT3A 2 25463289 missense T C Sanger sequencing 0.8708 deleterious
AutG3797KIF3C 2 26203250 missense T C Sanger sequencing 0.7071 deleterious
AutG339778C2orf70 2 26798966 missense C T Sanger sequencing 0.7657 deleterious
AutG56896DPYSL5 2 27164818 missense G A Sanger sequencing 0.1869 neutral
AutG6683SPAST 2 32361662 frameshift CT C Sanger sequencing
AutG57448BIRC6 2 32640862 missense C G Sanger sequencing 0.4611 neutral
AutG57448BIRC6 2 32656133 nonsense C T Sanger sequencing
AutG54497HEATR5B 2 37299319 nonsense G A Sanger sequencing
AutG90957DHX57 2 39053113 nonsense G A Sanger sequencing
AutG90957DHX57 2 39065068 missense T C Sanger sequencing 0.2942 neutral
AutG10128LRPPRC 2 44184566 missense G A Sanger sequencing 0.171 neutral
AutG10736SIX2 2 45235850 nonsense T A Sanger sequencing
AutG55133SRBD1 2 45778322 missense T A Sanger sequencing 0.5763 deleterious
AutG90411MCFD2 2 47136241 missense C T Sanger sequencing 0.051 neutral
AutG4436MSH2 2 47672716 missense T A Sanger sequencing 0.4028 neutral
AutG129285KLRAQ1 2 48692688 synonymous G A Sanger sequencing
AutG9378NRXN1 2 50318536 missense C T Sanger sequencing 0.0458 neutral
AutG9378NRXN1 2 50850511 missense T G Sanger sequencing 0.8128 deleterious
AutG23198PSME4 2 54114533 missense G A Sanger sequencing 0.036 neutral
AutG57223SMEK2 2 55808728 missense G C Sanger sequencing
AutG53335BCL11A 2 60688721 frameshift GA G Sanger sequencing
AutG64895PAPOLG 2 61014164 missense C A Sanger sequencing 0.7203 deleterious
AutG5013OTX1 2 63283025 synonymous C G Sanger sequencing
AutG51542VPS54 2 64120568 missense C A Sanger sequencing 0.0274 neutral
AutG6509SLC1A4 2 65245299 missense G A Sanger sequencing 0.9971 deleterious
AutG200734SPRED2 2 65561787 nonsense G A Sanger sequencing
AutG200558APLF 2 68794483 missense C A Sanger sequencing 0.5059 deleterious
AutG84168ANTXR1 2 69409650 missense C T Sanger sequencing 0.9592 deleterious
AutG51449PCYOX1 2 70502099 missense G A Sanger sequencing 0.8623 deleterious
AutG50489CD207 2 71062628 missense C T Sanger sequencing 0.1061 neutral
AutG27332ZNF638 2 71635358 missense C G Sanger sequencing 0.0139 neutral
AutG27332ZNF638 2 71649966 missense A G Sanger sequencing 0.0081 neutral
AutG8291DYSF 2 71788955 missense C T Sanger sequencing 0.5439 deleterious
AutG8291DYSF 2 71797809 nonsense C T Sanger sequencing
AutG56603CYP26B1 2 72362470 missense G A Sanger sequencing 0.8497 deleterious
AutG7840ALMS1 2 73800198 missense A C Sanger sequencing 0.1971 neutral
AutG8446DUSP11 2 73989820 missense A T Sanger sequencing 0.0295 neutral
AutG57835SLC4A5 2 74483044 missense T C Sanger sequencing 0.9962 deleterious
AutG7841MOGS 2 74689442 missense C T Sanger sequencing 0.2396 neutral
AutG6439SFTPB 2 85892817 missense C T Sanger sequencing 0.0072 neutral
AutG55037PTCD3 2 86333407 missense C T Sanger sequencing 0.2204 neutral
AutG55818KDM3A 2 86678313 nonsense A T Sanger sequencing
AutG150696PROM2 2 95943281 synonymous C A Sanger sequencing
AutG23020SNRNP200 2 96962741 missense T C Sanger sequencing 0.9999 deleterious
AutG26504CNNM4 2 97464939 synonymous C T Sanger sequencing
AutG7535ZAP70 2 98354242 missense C T Sanger sequencing 0.7845 deleterious
AutG1261CNGA3 2 99006180 missense G A Sanger sequencing 0.1936 neutral
AutG3631INPP4A 2 99163073 missense T C Sanger sequencing 0.5759 deleterious
AutG9173IL1RL1 2 102965622 missense G A Sanger sequencing 0.3204 neutral
AutG151011SEPT10 2 110310766 synonymous A G Sanger sequencing
AutG151011SEPT10 2 110323354 missense C G Sanger sequencing 0.9747 deleterious
AutG4867NPHP1 2 110901141 synonymous T G Sanger sequencing
AutG10461MERTK 2 112732928 synonymous A G Sanger sequencing
AutG129804FBLN7 2 112922678 synonymous G A Sanger sequencing
AutG6574SLC20A1 2 113417216 missense G T Sanger sequencing 0.8294 deleterious
AutG23550PSD4 2 113940833 missense C T Sanger sequencing 0.1058 neutral
AutG23332CLASP1 2 122122758 missense T G Sanger sequencing 0.8044 deleterious
AutG10746MAP3K2 2 128095324 CODON_DELETION CTCT C Sanger sequencing
AutG56886UGGT1 2 128917217 CODON_DELETION TTCA T Sanger sequencing
AutG55627SMPD4 2 130912761 missense C T Sanger sequencing 0.423 neutral
AutG55183RIF1 2 152321326 synonymous G A Sanger sequencing
AutG55660PRPF40A 2 153528972 splice C T Sanger sequencing
AutG90ACVR1 2 158622623 synonymous G A Sanger sequencing
AutG10716TBR1 2 162274307 missense G T Sanger sequencing 0.9874 deleterious
AutG10716TBR1 2 162275553 missense A C Sanger sequencing 0.9879 deleterious
AutG1803DPP4 2 162891779 frameshift T TA Sanger sequencing
AutG90134KCNH7 2 163302876 missense G C Sanger sequencing 0.9832 deleterious
AutG6326SCN2A 2 166152578 missense A G Sanger sequencing 0.9878 deleterious
AutG6326SCN2A 2 166170231 missense G A Sanger sequencing 0.9976 deleterious
AutG6326SCN2A 2 166170231 missense G A Sanger sequencing 0.9976 deleterious
AutG6326SCN2A 2 166183403 frameshift T TA Sanger sequencing
AutG6326SCN2A 2 166201312 missense G A Sanger sequencing 0.9987 deleterious
AutG6326SCN2A 2 166245137 splice A T Sanger sequencing
AutG2591GALNT3 2 166613697 missense G A Sanger sequencing 0.8997 deleterious
AutG6323SCN1A 2 166848859 missense C G Sanger sequencing 0.2117 neutral
AutG6332SCN7A 2 167322357 nonsense G A Sanger sequencing
AutG129446XIRP2 2 168103957 missense C T Sanger sequencing 0.0293 neutral
AutG4036LRP2 2 170030556 missense G C Sanger sequencing 0.8903 deleterious
AutG9874TLK1 2 171863055 missense A G Sanger sequencing 0.6724 deleterious
AutG11069RAPGEF4 2 173898693 splice G A Sanger sequencing
AutG1386ATF2 2 175976331 missense A G Sanger sequencing 0.0006 neutral
AutG50940PDE11A 2 178494223 nonsense C T Sanger sequencing
AutG7273TTN 2 179434864 missense C T Sanger sequencing 0.533 deleterious
AutG7273TTN 2 179435034 synonymous A G Sanger sequencing
AutG7273TTN 2 179439424 missense C A Sanger sequencing 0.041 neutral
AutG7273TTN 2 179575512 nonsense G A Sanger sequencing
AutG7273TTN 2 179582496 missense C T Sanger sequencing 0.1735 neutral
AutG7273TTN 2 179584745 missense C T Sanger sequencing 0.4944 deleterious
AutG7273TTN 2 179634424 missense C G Sanger sequencing 0.9743 deleterious
AutG7273TTN 2 179641336 missense C T Sanger sequencing 0.2519 neutral
AutG91752ZNF804A 2 185798420 missense C T Sanger sequencing 0.9886 deleterious
AutG1290COL5A2 2 189907974 missense C T Sanger sequencing 0.9999 deleterious
AutG84128WDR75 2 190323576 missense A T Sanger sequencing 0.0017 neutral
AutG23671TMEFF2 2 192818494 synonymous A G Sanger sequencing
AutG56171DNAH7 2 196640603 synonymous A C Sanger sequencing
AutG56171DNAH7 2 196729541 missense C A Sanger sequencing 0.0296 neutral
AutG23451SF3B1 2 198274638 missense A G Sanger sequencing 0.9884 deleterious
AutG23451SF3B1 2 198281565 missense G A Sanger sequencing 0.1313 neutral
PHOCN 2 198388394 missense C T Sanger sequencing
AutG57679ALS2 2 202569184 missense G A Sanger sequencing 0.9996 deleterious
AutG130026ICA1L 2 203693714 missense G A Sanger sequencing 0.2719 neutral
AutG57404CYP20A1 2 204161598 synonymous A G Sanger sequencing
AutG57683ZDBF2 2 207173105 missense A T Sanger sequencing 0.0241 neutral
AutG57683ZDBF2 2 207175071 missense C T Sanger sequencing 0.0256 neutral
AutG57683ZDBF2 2 207176286 missense C T Sanger sequencing 0.141 neutral
AutG200576PIKFYVE 2 209167007 missense G A Sanger sequencing 0.9779 deleterious
AutG1373CPS1 2 211466977 missense C T Sanger sequencing 0.566 deleterious
AutG26154ABCA12 2 215852457 missense C T Sanger sequencing 0.3767 neutral
AutG2335FN1 2 216259404 missense C T Sanger sequencing 0.4875 neutral
AutG50485SMARCAL1 2 217300128 missense G A Sanger sequencing 0.2645 neutral
AutG7429VIL1 2 219294054 missense G A Sanger sequencing 0.9967 deleterious
AutG7429VIL1 2 219297564 missense G A Sanger sequencing 0.5582 deleterious
AutG84812PLCD4 2 219483415 missense C T Sanger sequencing 0.6729 deleterious
AutG1412CRYBA2 2 219855593 missense G A Sanger sequencing 0.3005 neutral
AutG10290SPEG 2 220353298 missense G T Sanger sequencing 0.8241 deleterious
AutG29926GMPPA 2 220370245 missense C G Sanger sequencing 0.9003 deleterious
AutG130612TMEM198 2 220414519 synonymous T C Sanger sequencing
AutG23363OBSL1 2 220422963 missense C T Sanger sequencing 0.9883 deleterious
AutG7857SCG2 2 224463202 missense C A Sanger sequencing 0.5125 deleterious
AutG79843FAM124B 2 225266192 synonymous G T Sanger sequencing
AutG3667IRS1 2 227661674 missense C T Sanger sequencing 0.0616 neutral
AutG3667IRS1 2 227662573 synonymous G A Sanger sequencing
AutG3431SP110 2 231074661 missense G A Sanger sequencing 0.15 neutral
AutG26058GIGYF2 2 233704659 missense G A Sanger sequencing 0.9926 deleterious
AutG8527DGKD 2 234350581 frameshift C CG Sanger sequencing
AutG8527DGKD 2 234356988 synonymous G A Sanger sequencing
AutG6694SPP2 2 234969088 frameshift TC T Sanger sequencing
AutG51052PRLH 2 238475709 missense G A Sanger sequencing 0.6275 deleterious
AutG9208LRRFIP1 2 238671886 synonymous C T Sanger sequencing
AutG9208LRRFIP1 2 238671960 missense C T Sanger sequencing 0.0013 neutral
AutG51665ASB1 2 239344638 missense C A Sanger sequencing 0.4041 deleterious
AutG79919C2orf54 2 241835121 synonymous C T Sanger sequencing
AutG3069HDLBP 2 242196047 missense G A Sanger sequencing 0.8405 deleterious
AutG10494STK25 2 242435818 synonymous C T Sanger sequencing
AutG728294D2HGDH 2 242694601 synonymous G C Sanger sequencing
AutG152330CNTN4 3 2967383 synonymous C T Sanger sequencing
AutG3708ITPR1 3 4703923 missense G C Sanger sequencing 0.956 deleterious
AutG55209SETD5 3 9483388 nonsense C T Sanger sequencing
AutG55209SETD5 3 9486949 missense G A Sanger sequencing 0.0772 neutral
AutG55209SETD5 3 9517219 missense G C Sanger sequencing 0.7084 deleterious
AutG100526693ARPC4-TTLL3 3 9854936 missense T A Sanger sequencing 0.038 neutral
AutG26140TTLL3 3 9870673 missense A C Sanger sequencing 0.6545 deleterious
AutG26140TTLL3 3 9871026 missense C T Sanger sequencing 0.0713 neutral
AutG55831TMEM111 3 10028342 missense C T Sanger sequencing
AutG9797TATDN2 3 10301993 missense G A Sanger sequencing 0.7643 deleterious
AutG6529SLC6A1 3 11068045 missense G A Sanger sequencing 0.9997 deleterious
AutG51244C3orf19 3 14703152 missense C T Sanger sequencing
AutG64145ZFYVE20 3 15123893 missense T A Sanger sequencing
AutG23122CLASP2 3 33558580 missense C T Sanger sequencing 0.6494 deleterious
AutG4292MLH1 3 37081770 missense A C Sanger sequencing 0.9197 deleterious
AutG9940DLEC1 3 38101247 missense A G Sanger sequencing 0.0495 neutral
AutG30ACAA1 3 38178135 synonymous C A Sanger sequencing
AutG25924MYRIP 3 40085652 missense C T Sanger sequencing 0.0342 neutral
AutG9045RPL14 3 40500225 missense C A Sanger sequencing 0.0887 neutral
AutG353274ZNF445 3 44488106 synonymous C G Sanger sequencing
AutG131616TMEM42 3 44905765 missense G A Sanger sequencing 0.1276 neutral
AutG23218NBEAL2 3 47036870 missense G A Sanger sequencing 0.008 neutral
AutG29072SETD2 3 47161785 synonymous G A Sanger sequencing
AutG29072SETD2 3 47164140 synonymous T C Sanger sequencing
AutG6599SMARCC1 3 47702879 missense T C Sanger sequencing 0.968 deleterious
AutG5364PLXNB1 3 48455355 frameshift CA C Sanger sequencing
AutG1294COL7A1 3 48606872 missense C T Sanger sequencing 0.3062 neutral
AutG1294COL7A1 3 48606873 synonymous G T Sanger sequencing
AutG1294COL7A1 3 48606874 missense T G Sanger sequencing 0.027 neutral
AutG54870QRICH1 3 49114314 frameshift TG T Sanger sequencing
AutG1605DAG1 3 49570115 missense C T Sanger sequencing 0.1871 neutral
AutG8927BSN 3 49694871 missense C T Sanger sequencing 0.9262 deleterious
AutG63891RNF123 3 49753101 missense A G Sanger sequencing 0.9794 deleterious
AutG29925GMPPB 3 49759429 missense A G Sanger sequencing 0.9902 deleterious
AutG6405SEMA3F 3 50211299 missense G C Sanger sequencing 0.0035 neutral
AutG9730VPRBP 3 51452176 missense G A Sanger sequencing 0.7028 deleterious
AutG23132RAD54L2 3 51696843 missense C T Sanger sequencing 0.4117 neutral
AutG54106TLR9 3 52256514 synonymous G A Sanger sequencing
AutG25981DNAH1 3 52356651 missense C T Sanger sequencing 0.0038 neutral
AutG25981DNAH1 3 52409336 missense C T Sanger sequencing 0.5927 deleterious
AutG8314BAP1 3 52437518 missense C T Sanger sequencing 0.9268 deleterious
AutG11188NISCH 3 52492846 missense C G Sanger sequencing 0.4588 neutral
AutG64943NT5DC2 3 52558490 missense C T Sanger sequencing 0.4739 deleterious
AutG55193PBRM1 3 52582238 synonymous G A Sanger sequencing
AutG776CACNA1D 3 53757544 missense G A Sanger sequencing 0.8914 deleterious
AutG55799CACNA2D3 3 54872646 nonsense G T Sanger sequencing
AutG201627FAM116A 3 57614045 missense C T Sanger sequencing
AutG2317FLNB 3 58139188 missense T C Sanger sequencing 0.7949 deleterious
AutG2317FLNB 3 58145363 missense A C Sanger sequencing 0.4978 deleterious
AutG5793PTPRG 3 62258653 missense T C Sanger sequencing 0.9782 deleterious
AutG8618CADPS 3 62543117 synonymous C T Sanger sequencing
AutG84864MINA 3 97673295 synonymous C T Sanger sequencing
AutG81050OR5AC2 3 97806355 synonymous A G Sanger sequencing
AutG10402ST3GAL6 3 98510684 splice G C Sanger sequencing
AutG348801LNP1 3 100170600 missense A T Sanger sequencing 0.041 neutral
AutG57337SENP7 3 101066863 missense T C Sanger sequencing 0.0463 neutral
AutG961CD47 3 107778378 synonymous T C Sanger sequencing
AutG285335SLC9A10 3 111873844 synonymous C T Sanger sequencing
AutG285335SLC9A10 3 111886156 missense A C Sanger sequencing
AutG152185SPICE1 3 113187041 missense C A Sanger sequencing 0.9392 deleterious
AutG205717KIAA2018 3 113376331 nonsense G A Sanger sequencing
AutG51365PLA1A 3 119327736 frameshift CT C Sanger sequencing
AutG89876C3orf15 3 119427440 missense C T Sanger sequencing
AutG2932GSK3B 3 119582433 missense G T Sanger sequencing 0.7971 deleterious
AutG10721POLQ 3 121212507 synonymous T C Sanger sequencing
AutG3836KPNA1 3 122215306 missense C T Sanger sequencing 0.8911 deleterious
AutG54625PARP14 3 122422695 missense A C Sanger sequencing 0.054 neutral
AutG57493HEG1 3 124732039 missense G A Sanger sequencing 0.1396 neutral
AutG5361PLXNA1 3 126726747 synonymous C T Sanger sequencing
AutG5361PLXNA1 3 126730873 missense G A Sanger sequencing 0.9932 deleterious
AutG5361PLXNA1 3 126749110 missense G A Sanger sequencing 0.9908 deleterious
AutG4171MCM2 3 127327353 synonymous C T Sanger sequencing
AutG131870NUDT16 3 131100722 missense C G Sanger sequencing 0.1443 neutral
AutG23317DNAJC13 3 132175637 missense C T Sanger sequencing 0.8212 deleterious
AutG347736TXNDC6 3 138038425 splice T C Sanger sequencing
AutG253461ZBTB38 3 141163172 missense C G Sanger sequencing 0.1487 neutral
AutG1359CPA3 3 148614417 missense C T Sanger sequencing 0.0953 neutral
AutG1356CP 3 148896396 missense C G Sanger sequencing 0.6225 deleterious
AutG53829P2RY13 3 151046382 synonymous T C Sanger sequencing
AutG13AADAC 3 151538186 missense A C Sanger sequencing 0.8851 deleterious
AutG4154MBNL1 3 152132749 missense A G Sanger sequencing 0.7976 deleterious
AutG5028P2RY1 3 152554279 synonymous T C Sanger sequencing
AutG23007PLCH1 3 155199428 missense G A Sanger sequencing 0.0442 neutral
AutG51068NMD3 3 160960410 missense G A Sanger sequencing 0.1799 neutral
AutG2122MECOM 3 168819995 missense A G Sanger sequencing 0.5612 deleterious
AutG2122MECOM 3 168838891 missense C T Sanger sequencing 0.7881 deleterious
AutG64778FNDC3B 3 172048426 missense C T Sanger sequencing 0.3595 neutral
AutG59345GNB4 3 179123022 missense T C Sanger sequencing 0.9995 deleterious
AutG151613TTC14 3 180320187 synonymous G T Sanger sequencing
AutG151613TTC14 3 180328097 missense C T Sanger sequencing 0.1496 neutral
AutG23101MCF2L2 3 182923938 missense C T Sanger sequencing 0.2866 neutral
AutG89857KLHL6 3 183209871 missense G C Sanger sequencing 0.4651 deleterious
AutG10057ABCC5 3 183682987 missense T G Sanger sequencing 0.9764 deleterious
AutG8893EIF2B5 3 183861920 missense T G Sanger sequencing 0.9854 deleterious
AutG9718ECE2 3 183994332 missense G A Sanger sequencing 0.0244 neutral
AutG23355VPS8 3 184632833 missense A G Sanger sequencing 0.9673 deleterious
AutG344892RTP2 3 187419873 missense T A Sanger sequencing 0.2964 neutral
AutG2257FGF12 3 192078290 synonymous G A Sanger sequencing
AutG4585MUC4 3 195515997 missense G T Sanger sequencing 0.0159 neutral
AC069257.9.1 3 195955097 synonymous C A Sanger sequencing
AutG4241MFI2 3 196753547 synonymous G A Sanger sequencing
AutG2580GAK 4 898481 missense G A Sanger sequencing 0.2725 neutral
AutG10417SPON2 4 1161406 missense A G Sanger sequencing 0.9998 deleterious
AutG10417SPON2 4 1164292 missense C T Sanger sequencing 0.5737 deleterious
AutG57654KIAA1530 4 1377656 missense A C Sanger sequencing
AutG7468WHSC1 4 1920309 frameshift GC G Sanger sequencing
AutG10608MXD4 4 2259719 missense C T Sanger sequencing 0.8968 deleterious
AutG8602NOP14 4 2940996 missense C T Sanger sequencing 0.886 deleterious
AutG6002RGS12 4 3441281 missense G A Sanger sequencing 0.5771 deleterious
AutG93621MRFAP1 4 6642942 missense T A Sanger sequencing 0.8383 deleterious
AutG57537SORCS2 4 7716910 synonymous C T Sanger sequencing
AutG54436SH3TC1 4 8207326 missense G A Sanger sequencing
METTL19 4 8467199 missense C T Sanger sequencing
AutG8532CPZ 4 8620216 missense C T Sanger sequencing 0.0953 neutral
AutG56606SLC2A9 4 9943577 synonymous G A Sanger sequencing
AutG116449CLNK 4 10567654 missense T C Sanger sequencing 0.0992 neutral
AutG26234FBXL5 4 15640246 synonymous T G Sanger sequencing
AutG133015PACRGL 4 20714481 missense A G Sanger sequencing 0.0068 neutral
AutG1665DHX15 4 24550500 missense T C Sanger sequencing 0.2969 neutral
AutG152831KLB 4 39436024 synonymous T C Sanger sequencing
AutG55728N4BP2 4 40104472 missense C G Sanger sequencing 0.0428 neutral
AutG22998LIMCH1 4 41646619 synonymous G A Sanger sequencing
AutG22998LIMCH1 4 41646620 missense G A Sanger sequencing 0.4164 neutral
AutG10396ATP8A1 4 42583745 missense C T Sanger sequencing 0.1483 neutral
AutG2560GABRB1 4 47033990 frameshift GAT G Sanger sequencing
AutG7006TEC 4 48147297 synonymous C T Sanger sequencing
AutG285527FRYL 4 48563484 splice C T Sanger sequencing
AutG84708LNX1 4 54362459 missense A T Sanger sequencing 0.0152 neutral
AutG79644SRD5A3 4 56236104 missense T A Sanger sequencing 0.9948 deleterious
AutG9662CEP135 4 56846457 missense A G Sanger sequencing 0.3248 neutral
AutG5978REST 4 57798002 missense C G Sanger sequencing 0.2049 neutral
AutG2044EPHA5 4 66270142 synonymous T C Sanger sequencing
AutG55236UBA6 4 68497606 synonymous A G Sanger sequencing
AutG2798GNRHR 4 68619768 missense G A Sanger sequencing 0.9626 deleterious
AutG7364UGT2B7 4 69962514 synonymous A G Sanger sequencing
AutG7363UGT2B4 4 70359486 synonymous T C Sanger sequencing
AutG22902RUFY3 4 71588304 missense C T Sanger sequencing 0.8899 deleterious
AutG22902RUFY3 4 71629352 missense A G Sanger sequencing 0.9355 deleterious
AutG26057ANKRD17 4 73957308 CODON_DELETION CTGT C Sanger sequencing
AutG26057ANKRD17 4 74026943 missense C T Sanger sequencing 0.0863 neutral
AutG339965CCDC158 4 77288477 synonymous A G Sanger sequencing
AutG10983CCNI 4 77969491 missense G A Sanger sequencing 0.1277 neutral
AutG901CCNG2 4 78087056 synonymous A G Sanger sequencing
AutG1040CDS1 4 85530630 synonymous G A Sanger sequencing
AutG23001WDFY3 4 85609385 missense C T Sanger sequencing 0.2294 neutral
AutG23001WDFY3 4 85742365 missense T A Sanger sequencing 0.9134 deleterious
AutG5783PTPN13 4 87705622 missense C G Sanger sequencing 0.1462 neutral
AutG8404SPARCL1 4 88416183 nonsense C A Sanger sequencing
AutG285513GPRIN3 4 90170534 missense C G Sanger sequencing 0.0573 neutral
AutG401145FAM190A 4 91549237 nonsense C T Sanger sequencing
AutG2895GRID2 4 94377044 missense C G Sanger sequencing 0.2351 neutral
AutG27306HPGDS 4 95220672 missense C T Sanger sequencing 0.0001 neutral
AutG4126MANBA 4 103592542 synonymous A G Sanger sequencing
AutG51176LEF1 4 108984799 missense C T Sanger sequencing 0.3011 neutral
AutG10692RRH 4 110763634 missense A G Sanger sequencing 0.1169 neutral
AutG287ANK2 4 114214640 missense C G Sanger sequencing 0.0663 neutral
AutG287ANK2 4 114254247 nonsense C T Sanger sequencing
AutG287ANK2 4 114264189 missense C G Sanger sequencing 0.5164 deleterious
AutG57721METTL14 4 119626841 missense A G Sanger sequencing 0.7268 deleterious
NDNF 4 121961207 missense T C Sanger sequencing 0.9567 deleterious
AutG84162KIAA1109 4 123140507 missense G A Sanger sequencing 0.9913 deleterious
AutG11162NUDT6 4 123814039 nonsense T A Sanger sequencing
AutG79633FAT4 4 126240148 missense T A Sanger sequencing 0.4875 neutral
AutG79633FAT4 4 126336650 missense G A Sanger sequencing 0.4875 neutral
AutG79633FAT4 4 126411350 missense C T Sanger sequencing 0.4875 neutral
AutG27152INTU 4 128595288 synonymous C T Sanger sequencing
AutG80155NAA15 4 140262130 nonsense C G Sanger sequencing
AutG80155NAA15 4 140272765 missense G T Sanger sequencing 0.9903 deleterious
AutG84640USP38 4 144134980 synonymous G A Sanger sequencing
AutG8467SMARCA5 4 144442658 missense C A Sanger sequencing 0.9638 deleterious
AutG152503SH3D19 4 152043356 nonsense C A Sanger sequencing
AutG51802ACCN5 4 156764934 missense T C Sanger sequencing
AutG2891GRIA2 4 158234012 synonymous C T Sanger sequencing
AutG2891GRIA2 4 158254055 nonsense C T Sanger sequencing
AutG9693RAPGEF2 4 160264456 missense C G Sanger sequencing 0.7022 deleterious
AutG1363CPE 4 166414361 synonymous A G Sanger sequencing
AutG1182CLCN3 4 170618808 missense G A Sanger sequencing 0.029 neutral
AutG55325UFSP2 4 186336914 synonymous A C Sanger sequencing
AutG2195FAT1 4 187524608 missense T C Sanger sequencing 0.1151 neutral
AutG2195FAT1 4 187538324 missense T G Sanger sequencing 0.203 neutral
AutG10016PDCD6 5 306768 missense G A Sanger sequencing 0.6784 deleterious
AutG7015TERT 5 1264586 missense C T Sanger sequencing 0.3907 neutral
AutG6531SLC6A3 5 1414895 missense G A Sanger sequencing 0.9992 deleterious
AutG23379KIAA0947 5 5457449 missense A C Sanger sequencing
AutG79072FASTKD3 5 7867278 missense C T Sanger sequencing 0.0904 neutral
AutG7204TRIO 5 14389434 frameshift AT A Sanger sequencing
AutG7204TRIO 5 14485178 missense G C Sanger sequencing 0.6699 deleterious
AutG56979PRDM9 5 23522893 missense T C Sanger sequencing 0.5218 deleterious
AutG54545MTMR12 5 32263299 nonsense C T Sanger sequencing
AutG23600AMACR 5 33989381 synonymous G A Sanger sequencing
AutG202151RANBP3L 5 36255592 missense C T Sanger sequencing 0.8836 deleterious
AutG1601DAB2 5 39376856 missense G C Sanger sequencing 0.0563 neutral
AutG493869GPX8 5 54456842 synonymous G A Sanger sequencing
AutG401190RGS7BP 5 63802408 START_GAINED G T Sanger sequencing
AutG373TRIM23 5 64887621 missense G A Sanger sequencing 0.8439 deleterious
AutG55914ERBB2IP 5 65338903 splice A T Sanger sequencing
AutG891CCNB1 5 68471298 synonymous T C Sanger sequencing
AutG4131MAP1B 5 71491094 missense G T Sanger sequencing 0.9116 deleterious
AutG84340GFM2 5 74017586 missense G T Sanger sequencing 0.7684 deleterious
AutG26049FAM169A 5 74130375 frameshift AATTC A Sanger sequencing
AutG10087COL4A3BP 5 74675192 synonymous T C Sanger sequencing
AutG10087COL4A3BP 5 74721237 missense A G Sanger sequencing 0.4536 neutral
AutG55109AGGF1 5 76342465 missense T G Sanger sequencing 0.8638 deleterious
AutG10085EDIL3 5 83433140 missense T G Sanger sequencing 0.4087 neutral
AutG4208MEF2C 5 88100432 missense T C Sanger sequencing 0.9929 deleterious
AutG7025NR2F1 5 92921034 missense C T Sanger sequencing 0.9707 deleterious
AutG79772MCTP1 5 94620051 synonymous T G Sanger sequencing
AutG153643FAM81B 5 94756094 missense G A Sanger sequencing 0.9374 deleterious
AutG1105CHD1 5 98216794 missense G C Sanger sequencing 0.9805 deleterious
AutG1105CHD1 5 98235279 synonymous G A Sanger sequencing
AutG64848YTHDC2 5 112860714 synonymous A G Sanger sequencing
AutG64848YTHDC2 5 112899557 missense C T Sanger sequencing 0.6882 deleterious
AutG353376TICAM2 5 114952066 missense T A Sanger sequencing
AutG57556SEMA6A 5 115840614 nonsense A T Sanger sequencing
AutG1657DMXL1 5 118485784 missense C T Sanger sequencing 0.0031 neutral
AutG9627SNCAIP 5 121787121 missense C T Sanger sequencing 0.0332 neutral
AutG65983GRAMD3 5 125820090 splice G C Sanger sequencing
AutG96459FNIP1 5 131013499 synonymous T C Sanger sequencing
AutG8974P4HA2 5 131534615 missense T C Sanger sequencing 0.9996 deleterious
AutG23338PHF15 5 133871563 nonsense C T Sanger sequencing
AutG7045TGFBI 5 135385199 synonymous C A Sanger sequencing
AutG51308REEP2 5 137781275 synonymous G A Sanger sequencing
AutG26045LRRTM2 5 138209298 nonsense G A Sanger sequencing
AutG51523CXXC5 5 139060538 missense C A Sanger sequencing 0.4551 neutral
AutG404734ANKHD1-EIF4EBP3 5 139889224 synonymous G A Sanger sequencing
AutG56143PCDHA5 5 140203699 missense C A Sanger sequencing 0.0128 neutral
AutG56136PCDHA13 5 140263769 missense A T Sanger sequencing 0.8338 deleterious
AutG57717PCDHB16 5 140563351 missense A G Sanger sequencing 0.281 neutral
AutG56104PCDHGB1 5 140731183 synonymous C T Sanger sequencing
AutG1729DIAPH1 5 140913939 missense C G Sanger sequencing 0.7899 deleterious
AutG153770PLAC8L1 5 145477815 missense G A Sanger sequencing 0.0939 neutral
AutG5459POU4F3 5 145719811 missense G C Sanger sequencing 0.8212 deleterious
AutG5145PDE6A 5 149323838 synonymous G C Sanger sequencing
AutG6534SLC6A7 5 149584134 missense G A Sanger sequencing 0.9997 deleterious
AutG6949TCOF1 5 149771544 missense C T Sanger sequencing 0.4875 neutral
AutG10318TNIP1 5 150444567 synonymous C T Sanger sequencing
AutG2196FAT2 5 150930211 synonymous C G Sanger sequencing
AutG2196FAT2 5 150948279 missense G A Sanger sequencing 0.7741 deleterious
AutG2890GRIA1 5 153144076 missense G A Sanger sequencing 0.9628 deleterious
AutG3702ITK 5 156649954 missense C T Sanger sequencing 0.8587 deleterious
AutG114825PWWP2A 5 159520099 missense G A Sanger sequencing 0.92 deleterious
AutG23120ATP10B 5 160049576 missense G A Sanger sequencing 0.9897 deleterious
AutG2566GABRG2 5 161576159 missense G A Sanger sequencing 0.8666 deleterious
AutG6586SLIT3 5 168112800 synonymous G A Sanger sequencing
AutG2568GABRP 5 170239115 synonymous G A Sanger sequencing
AutG64901RANBP17 5 170667997 frameshift ATC A Sanger sequencing
AutG64901RANBP17 5 170722942 nonsense C T Sanger sequencing
AutG23291FBXW11 5 171337706 missense G C Sanger sequencing 0.0088 neutral
AutG64324NSD1 5 176684041 missense T C Sanger sequencing 0.8708 deleterious
AutG6569SLC34A1 5 176813540 missense A G Sanger sequencing 0.873 deleterious
AutG6569SLC34A1 5 176824788 missense C T Sanger sequencing 0.9993 deleterious
AutG117608ZNF354B 5 178310041 synonymous G A Sanger sequencing
AutG80230RUFY1 5 179023604 missense G A Sanger sequencing 0.0301 neutral
AutG11282MGAT4B 5 179225962 missense G A Sanger sequencing 0.6835 deleterious
AutG9945GFPT2 5 179763552 synonymous G A Sanger sequencing
AutG55770EXOC2 6 553870 missense T C Sanger sequencing 0.4935 deleterious
AutG56897WRNIP1 6 2784633 missense G A Sanger sequencing 0.9304 deleterious
AutG63027SLC22A23 6 3273431 missense G A Sanger sequencing 0.2415 neutral
AutG63027SLC22A23 6 3284159 CODON_DELETION CCACGATGGAAAA C Sanger sequencing
AutG4117MAK 6 10802142 nonsense G A Sanger sequencing
AutG3096HIVEP1 6 12123505 synonymous A G Sanger sequencing
AutG3096HIVEP1 6 12164097 synonymous C T Sanger sequencing
AutG3720JARID2 6 15517480 frameshift TGATGTACC T Sanger sequencing
AutG221656KDM1B 6 18171678 nonsense C T Sanger sequencing
AutG2822GPLD1 6 24436916 missense C A Sanger sequencing 0.9122 deleterious
AutG7915ALDH5A1 6 24523086 missense G A Sanger sequencing 0.4536 neutral
AutG11119BTN3A1 6 26413449 synonymous G A Sanger sequencing
AutG387032ZKSCAN4 6 28213477 missense T C Sanger sequencing 0.0067 neutral
AutG282890ZNF311 6 28963322 missense C T Sanger sequencing 0.148 neutral
AutG3133HLA-E 6 30457613 missense A G Sanger sequencing 0.2075 neutral
AutG23ABCF1 6 30554028 missense C T Sanger sequencing 0.3893 neutral
AutG170954KIAA1949 6 30652620 synonymous G C Sanger sequencing
AutG9656MDC1 6 30672041 missense C T Sanger sequencing 0.244 neutral
AutG9656MDC1 6 30681921 missense A G Sanger sequencing 0.4896 deleterious
AutG259215LY6G6F 6 31675849 missense G A Sanger sequencing 0.0181 neutral
AutG4439MSH5 6 31726346 missense G A Sanger sequencing 0.1408 neutral
AutG7407VARS 6 31747474 missense C A Sanger sequencing 0.427 neutral
AutG7407VARS 6 31760609 missense G A Sanger sequencing 0.1374 neutral
AutG7148TNXB 6 32020552 missense C T Sanger sequencing 0.0181 neutral
AutG4855NOTCH4 6 32168932 synonymous C T Sanger sequencing
AutG3117HLA-DQA1 6 32609173 missense C G Sanger sequencing 0.0092 neutral
AutG8831SYNGAP1 6 33391326 missense G A Sanger sequencing 0.2478 neutral
AutG8831SYNGAP1 6 33405763 nonsense C T Sanger sequencing
AutG8831SYNGAP1 6 33408610 frameshift TC T Sanger sequencing
AutG8831SYNGAP1 6 33411228 nonsense C T Sanger sequencing
AutG8831SYNGAP1 6 33414451 frameshift GAACA G Sanger sequencing
AutG54887UHRF1BP1 6 34824175 missense G A Sanger sequencing 0.0619 neutral
AutG23294ANKS1A 6 34985466 missense C T Sanger sequencing 0.0531 neutral
AutG222663SCUBE3 6 35200730 synonymous C A Sanger sequencing
AutG7629ZNF76 6 35259464 missense G A Sanger sequencing 0.9819 deleterious
AutG221476PI16 6 36926932 synonymous G A Sanger sequencing
AutG4800NFYA 6 41046839 missense A G Sanger sequencing 0.8242 deleterious
AutG23304UBR2 6 42627568 missense C G Sanger sequencing 0.5125 deleterious
AutG23304UBR2 6 42631075 missense G A Sanger sequencing 0.5125 deleterious
AutG5754PTK7 6 43107166 synonymous A C Sanger sequencing
AutG23113CUL9 6 43191842 missense G A Sanger sequencing 0.2007 neutral
AutG24149ZNF318 6 43309923 missense C A Sanger sequencing 0.9287 deleterious
AutG9533POLR1C 6 43487568 missense G A Sanger sequencing 0.9711 deleterious
AutG57510XPO5 6 43492367 missense T C Sanger sequencing 0.7446 deleterious
AutG2030SLC29A1 6 44201210 missense G A Sanger sequencing 0.0198 neutral
AutG347734SLC35B2 6 44224229 missense C G Sanger sequencing 0.0013 neutral
AutG8464SUPT3H 6 44971489 missense C G Sanger sequencing 0.1501 neutral
AutG7941PLA2G7 6 46684253 missense G A Sanger sequencing 0.8577 deleterious
AutG26036ZNF451 6 57017096 missense C T Sanger sequencing 0.6155 deleterious
AutG7272TTK 6 80721204 nonsense C T Sanger sequencing
AutG7162TPBG 6 83075603 missense C A Sanger sequencing 0.6249 deleterious
AutG4199ME1 6 83921732 missense T A Sanger sequencing 0.153 neutral
AutG9096TBX18 6 85470056 missense C G Sanger sequencing 0.5665 deleterious
AutG23036ZNF292 6 87925717 nonsense C T Sanger sequencing
AutG55122AKIRIN2 6 88385638 missense C T Sanger sequencing 0.1779 neutral
AutG639PRDM1 6 106536222 synonymous C T Sanger sequencing
AutG202AIM1 6 106960441 missense C A Sanger sequencing 0.0617 neutral
AutG57673BEND3 6 107391881 missense T C Sanger sequencing 0.0941 neutral
AutG84071ARMC2 6 109233595 nonsense T A Sanger sequencing
AutG27244SESN1 6 109309811 missense T G Sanger sequencing 0.6379 deleterious
AutG5980REV3L 6 111714164 missense G A Sanger sequencing 0.0785 neutral
AutG23270TSPYL4 6 116574302 synonymous G T Sanger sequencing
AutG345895RSPH4A 6 116953391 missense A G Sanger sequencing
AutG6098ROS1 6 117724420 synonymous A G Sanger sequencing
AutG387119C6orf204 6 118887070 synonymous C T Sanger sequencing
AutG221322C6orf170 6 121638649 synonymous A G Sanger sequencing
AutG10767HBS1L 6 135290444 synonymous G A Sanger sequencing
AutG9053MAP7 6 136682268 missense G T Sanger sequencing 0.4981 deleterious
AutG64065PERP 6 138428392 missense G C Sanger sequencing 0.903 deleterious
AutG7402UTRN 6 144747566 synonymous C T Sanger sequencing
AutG134957STXBP5 6 147635412 missense A G Sanger sequencing 0.0088 neutral
AutG134957STXBP5 6 147680342 frameshift TC T Sanger sequencing
AutG57480PLEKHG1 6 151151887 missense G A Sanger sequencing 0.3987 neutral
AutG23345SYNE1 6 152673328 missense C T Sanger sequencing 0.6295 deleterious
AutG23345SYNE1 6 152728223 missense C T Sanger sequencing 0.021 neutral
AutG154043CNKSR3 6 154727783 missense T C Sanger sequencing 0.7215 deleterious
AutG57492ARID1B 6 157488271 nonsense C T Sanger sequencing
AutG57492ARID1B 6 157488314 nonsense C A Sanger sequencing
AutG57492ARID1B 6 157527390 frameshift C CG Sanger sequencing
AutG57492ARID1B 6 157528178 missense A G Sanger sequencing 0.0832 neutral
AutG79683ZDHHC14 6 158014030 synonymous C T Sanger sequencing
AutG3482IGF2R 6 160524825 missense A G Sanger sequencing 0.0036 neutral
AutG5340PLG 6 161139767 missense G T Sanger sequencing 0.186 neutral
AutG168090C6orf118 6 165723092 START_GAINED G A Sanger sequencing
AutG253769WDR27 6 170065622 nonsense G A Sanger sequencing 0.0009 neutral
AutG6991TCTE3 6 170140390 frameshift ATC A Sanger sequencing
AutG55780C6orf70 6 170175414 missense C T Sanger sequencing
AutG84498FAM120B 6 170627963 missense A C Sanger sequencing 0.0319 neutral
AutG5575PRKAR1B 7 720252 nonsense G A Sanger sequencing
AutG79778MICALL2 7 1476392 synonymous G A Sanger sequencing
AutG26173INTS1 7 1542695 missense G A Sanger sequencing 0.7223 deleterious
AutG26173INTS1 7 1542787 frameshift CT C Sanger sequencing
AutG8379MAD1L1 7 2041753 nonsense G A Sanger sequencing
AutG23288IQCE 7 2629665 missense A G Sanger sequencing 0.0341 neutral
AutG60ACTB 7 5567705 missense A G Sanger sequencing 0.9641 deleterious
AutG54476RNF216 7 5752394 missense C T Sanger sequencing 0.6694 deleterious
AutG221955DAGLB 7 6449422 missense A G Sanger sequencing
AutG2115ETV1 7 13978754 missense A G Sanger sequencing 0.7024 deleterious
AutG2115ETV1 7 14025837 START_GAINED C T Sanger sequencing
AGMO 7 15470670 missense G A Sanger sequencing 0.6438 deleterious
AutG23161SNX13 7 17843170 missense T C Sanger sequencing 0.8027 deleterious
AutG346389MACC1 7 20199071 missense T C Sanger sequencing 0.6851 deleterious
AutG8701DNAH11 7 21747364 synonymous G A Sanger sequencing
AutG8701DNAH11 7 21765433 missense C G Sanger sequencing 0.3026 neutral
AutG55536CDCA7L 7 21947980 missense G A Sanger sequencing 0.0385 neutral
AutG1687DFNA5 7 24742438 missense C T Sanger sequencing 0.0464 neutral
AutG26031OSBPL3 7 24932001 nonsense G A Sanger sequencing
AutG11185INMT 7 30791907 synonymous G A Sanger sequencing
AutG51251NT5C3 7 33055445 missense A G Sanger sequencing
AutG2737GLI3 7 42005456 missense T G Sanger sequencing 0.974 deleterious
AutG4967OGDH 7 44734101 missense A G Sanger sequencing 0.7917 deleterious
AutG64005MYO1G 7 45004575 missense C T Sanger sequencing 0.4755 neutral
AutG83605CCM2 7 45067319 missense C T Sanger sequencing 0.0056 neutral
AutG136288C7orf57 7 48092480 synonymous C T Sanger sequencing
AutG7378UPP1 7 48147088 synonymous C T Sanger sequencing
AutG154664ABCA13 7 48287839 missense C T Sanger sequencing 0.177 neutral
AutG154664ABCA13 7 48318773 missense A G Sanger sequencing 0.0545 neutral
AutG154664ABCA13 7 48335416 synonymous C T Sanger sequencing
AutG154664ABCA13 7 48390312 missense A G Sanger sequencing 0.5617 deleterious
AutG10320IKZF1 7 50467738 missense G C Sanger sequencing 0.121 neutral
AutG2887GRB10 7 50694583 synonymous G A Sanger sequencing
AutG23242COBL 7 51287624 missense C G Sanger sequencing 0.9893 deleterious
AutG9031BAZ1B 7 72892108 missense T A Sanger sequencing 0.5017 deleterious
AutG222183SRRM3 7 75894088 missense G A Sanger sequencing 0.3877 neutral
AutG7532YWHAG 7 75959490 missense T G Sanger sequencing 0.9564 deleterious
AutG54103PION 7 76950113 missense T A Sanger sequencing
AutG2770GNAI1 7 79846700 missense T C Sanger sequencing 0.6652 deleterious
AutG3082HGF 7 81336665 nonsense G T Sanger sequencing
AutG53616ADAM22 7 87760687 missense G A Sanger sequencing 0.5125 deleterious
AutG10142AKAP9 7 91691610 missense T A Sanger sequencing 0.6974 deleterious
AutG84060C7orf64 7 92161752 missense T G Sanger sequencing
AutG51666ASB4 7 95157379 nonsense C T Sanger sequencing
AutG1780DYNC1I1 7 95661998 missense A G Sanger sequencing 0.1446 neutral
AutG22853LMTK2 7 97816289 missense A G Sanger sequencing 0.9165 deleterious
AutG8295TRRAP 7 98478779 synonymous G A Sanger sequencing
AutG57154SMURF1 7 98633340 splice C T Sanger sequencing
AutG26024PTCD1 7 99021500 synonymous G A Sanger sequencing
AutG23660ZKSCAN5 7 99123456 missense A G Sanger sequencing 0.0017 neutral
AutG23660ZKSCAN5 7 99128899 missense T C Sanger sequencing 0.0408 neutral
AutG1577CYP3A5 7 99260477 missense A G Sanger sequencing 0.0673 neutral
AutG1551CYP3A7 7 99305541 missense C G Sanger sequencing 0.0639 neutral
AutG7589ZSCAN21 7 99661772 missense A G Sanger sequencing
AutG55262C7orf43 7 99755468 missense T G Sanger sequencing 0.3964 neutral
AutG2783GNB2 7 100274988 missense G A Sanger sequencing 0.9834 deleterious
AutG43ACHE 7 100491066 missense G A Sanger sequencing 0.9692 deleterious
AutG10071MUC12 7 100636140 nonsense G T Sanger sequencing
AutG140453MUC17 7 100696348 synonymous G C Sanger sequencing
AutG1523CUX1 7 101821789 missense T C Sanger sequencing 0.0366 neutral
AutG5649RELN 7 103162572 missense A G Sanger sequencing 0.9014 deleterious
AutG5649RELN 7 103322603 nonsense G A Sanger sequencing
AutG55904MLL5 7 104731771 missense G A Sanger sequencing
AutG6733SRPK2 7 104783696 nonsense G A Sanger sequencing
AutG79872CBLL1 7 107399132 missense T G Sanger sequencing 0.0011 neutral
AutG3912LAMB1 7 107564710 missense A G Sanger sequencing 0.667 deleterious
AutG22798LAMB4 7 107669504 missense C G Sanger sequencing 0.2014 neutral
AutG5506PPP1R3A 7 113519766 synonymous G A Sanger sequencing
AutG4233MET 7 116414960 synonymous C T Sanger sequencing
AutG7982ST7 7 116593742 missense A C Sanger sequencing 0.3325 neutral
AutG136991ASZ1 7 117022166 missense A C Sanger sequencing 0.0996 neutral
AutG154865IQUB 7 123109383 missense G A Sanger sequencing 0.7333 deleterious
AutG142685ASB15 7 123270114 missense C T Sanger sequencing 0.0427 neutral
AutG6677SPAM1 7 123599930 synonymous A G Sanger sequencing
AutG64101LRRC4 7 127670682 frameshift CAA C Sanger sequencing
AutG23534TNPO3 7 128610260 missense G C Sanger sequencing 0.9714 deleterious
AutG1357CPA1 7 130025065 missense T C Sanger sequencing 0.7626 deleterious
AutG346673STRA8 7 134936580 synonymous C T Sanger sequencing
AutG23165NUP205 7 135277850 synonymous G A Sanger sequencing
AutG254048UBN2 7 138967816 missense C G Sanger sequencing 0.1421 neutral
AutG51631LUC7L2 7 139102437 missense C G Sanger sequencing 0.1047 neutral
AutG4708NDUFB2 7 140402787 missense T C Sanger sequencing 0.6457 deleterious
AutG673BRAF 7 140481409 missense A C Sanger sequencing 0.9893 deleterious
AutG835CASP2 7 142988644 missense T C Sanger sequencing 0.0046 neutral
AutG8454CUL1 7 148495113 splice T A Sanger sequencing
AutG27153ZNF777 7 149129928 missense A G Sanger sequencing 0.0536 neutral
AutG29803REPIN1 7 150068799 nonsense C T Sanger sequencing
AutG9311ACCN3 7 150747627 missense A T Sanger sequencing
AutG10061ABCF2 7 150915221 synonymous C A Sanger sequencing
AutG58508MLL3 7 151845251 missense C G Sanger sequencing
AutG58508MLL3 7 151932977 frameshift AC A Sanger sequencing
AutG155435RBM33 7 155504129 missense C T Sanger sequencing 0.8735 deleterious
AutG169270ZNF596 8 196337 missense A C Sanger sequencing 0.289 neutral
AutG157697ERICH1 8 618638 synonymous A G Sanger sequencing
AutG9228DLGAP2 8 1497496 missense A G Sanger sequencing 0.0415 neutral
AutG9639ARHGEF10 8 1806141 missense A G Sanger sequencing 0.0066 neutral
AutG9172MYOM2 8 2027642 synonymous C T Sanger sequencing
AutG64478CSMD1 8 3265577 missense C T Sanger sequencing 0.0409 neutral
AutG79648MCPH1 8 6500546 synonymous T A Sanger sequencing
AutG55326AGPAT5 8 6605326 missense G A Sanger sequencing 0.4875 neutral
AutG90459ERI1 8 8877895 missense G A Sanger sequencing 0.9997 deleterious
AutG4482MSRA 8 10285789 synonymous C T Sanger sequencing
AutG94137RP1L1 8 10464932 missense C G Sanger sequencing 0.1317 neutral
AutG94137RP1L1 8 10468390 missense C T Sanger sequencing 0.2433 neutral
AutG2626GATA4 8 11606467 missense A C Sanger sequencing 0.6568 deleterious
AutG51201ZDHHC2 8 17055913 missense A G Sanger sequencing 0.9955 deleterious
AutG2039EPB49 8 21931296 missense C T Sanger sequencing
AutG57805KIAA1967 8 22476678 missense G A Sanger sequencing 0.1793 neutral
AutG1960EGR3 8 22548464 missense T A Sanger sequencing 0.0518 neutral
AutG80005DOCK5 8 25258469 missense C T Sanger sequencing 0.9869 deleterious
AutG1808DPYSL2 8 26501494 missense C A Sanger sequencing 0.453 neutral
AutG81551STMN4 8 27097681 splice T C Sanger sequencing
AutG2185PTK2B 8 27308294 missense G A Sanger sequencing 0.062 neutral
AutG51435SCARA3 8 27516996 nonsense G T Sanger sequencing
AutG23303KIF13B 8 28976449 missense G C Sanger sequencing 0.1262 neutral
AutG56154TEX15 8 30701097 missense T C Sanger sequencing 0.0765 neutral
AutG56154TEX15 8 30702135 missense C T Sanger sequencing 0.0218 neutral
AutG137970UNC5D 8 35616983 missense G A Sanger sequencing 0.9012 deleterious
AutG155ADRB3 8 37823742 synonymous G A Sanger sequencing
AutG9070ASH2L 8 37986409 synonymous T C Sanger sequencing
AutG2515ADAM2 8 39645715 missense T C Sanger sequencing 0.1951 neutral
AutG5327PLAT 8 42042618 missense G C Sanger sequencing 0.4414 neutral
AutG4173MCM4 8 48883381 missense G C Sanger sequencing 0.3055 neutral
AutG4173MCM4 8 48883927 synonymous G A Sanger sequencing
AutG54212SNTG1 8 51314822 missense T C Sanger sequencing 0.337 neutral
AutG54212SNTG1 8 51705253 missense T A Sanger sequencing 0.097 neutral
AutG137902PXDNL 8 52359655 synonymous T C Sanger sequencing
AutG137902PXDNL 8 52366170 synonymous C T Sanger sequencing
AutG2831NPBWR1 8 53852827 frameshift CTTCT C Sanger sequencing
AutG4986OPRK1 8 54142225 missense G T Sanger sequencing 0.2319 neutral
AutG80124VCPIP1 8 67579130 nonsense G A Sanger sequencing
AutG27067STAU2 8 74600948 missense T C Sanger sequencing 0.9074 deleterious
AutG761CA3 8 86356291 missense A T Sanger sequencing 0.5125 deleterious
AutG54714CNGB3 8 87588114 nonsense G T Sanger sequencing
AutG4325MMP16 8 89068423 missense G T Sanger sequencing 0.2405 neutral
AutG79815NIPAL2 8 99217397 missense A G Sanger sequencing 0.4441 neutral
AutG26986PABPC1 8 101730092 missense T C Sanger sequencing 0.4201 neutral
AutG51366UBR5 8 103281231 missense T C Sanger sequencing 0.4875 neutral
AutG55074OXR1 8 107718722 missense A C Sanger sequencing 0.9823 deleterious
AutG93035PKHD1L1 8 110478863 missense A G Sanger sequencing 0.147 neutral
AutG2131EXT1 8 119122786 missense G A Sanger sequencing 0.9929 deleterious
AutG3037HAS2 8 122641398 synonymous G A Sanger sequencing
AutG11236RNF139 8 125499557 missense C T Sanger sequencing 0.1874 neutral
AutG56169GSDMC 8 130760786 nonsense A T Sanger sequencing
AutG23167EFR3A 8 132952779 missense G A Sanger sequencing 0.9932 deleterious
AutG3786KCNQ3 8 133192475 missense G A Sanger sequencing 0.6706 deleterious
AutG83696TRAPPC9 8 141381255 missense G A Sanger sequencing 0.51 deleterious
AutG203062TSNARE1 8 143425442 synonymous G A Sanger sequencing
AutG23513SCRIB 8 144891120 missense G A Sanger sequencing 0.2495 neutral
AutG22827PUF60 8 144899878 missense G A Sanger sequencing 0.0141 neutral
AutG5339PLEC 8 144995364 synonymous G A Sanger sequencing
AutG8694DGAT1 8 145540331 missense G C Sanger sequencing 0.7223 deleterious
AutG83482SCRT1 8 145557230 missense G A Sanger sequencing 0.4356 neutral
AutG113655MFSD3 8 145735789 synonymous C T Sanger sequencing
AutG9684LRRC14 8 145745111 missense T C Sanger sequencing 0.0406 neutral
AutG9684LRRC14 8 145746113 missense G A Sanger sequencing 0.1502 neutral
AutG58500ZNF250 8 146107658 missense T C Sanger sequencing 0.3864 neutral
AutG2298FOXD4 9 117998 missense G T Sanger sequencing 0.0156 neutral
AutG81704DOCK8 9 452034 frameshift GT G Sanger sequencing
AutG10655DMRT2 9 1056868 synonymous C T Sanger sequencing
AutG10655DMRT2 9 1057229 missense A G Sanger sequencing 0.9652 deleterious
AutG5991RFX3 9 3263017 missense G T Sanger sequencing 0.1153 neutral
AutG2731GLDC 9 6534708 synonymous G A Sanger sequencing
AutG8777MPDZ 9 13140074 synonymous A G Sanger sequencing
AutG8777MPDZ 9 13247770 missense C T Sanger sequencing 0.5125 deleterious
AutG55667DENND4C 9 19360248 missense T G Sanger sequencing 0.0221 neutral
AutG340485ACER2 9 19446308 missense G C Sanger sequencing 0.9942 deleterious
AutG54914KIAA1797 9 20926307 missense C T Sanger sequencing
AutG10210TOPORS 9 32542613 missense G A Sanger sequencing 0.0011 neutral
AutG65083NOL6 9 33468867 nonsense G A Sanger sequencing
AutG55833UBAP2 9 33948584 missense G A Sanger sequencing 0.9606 deleterious
AutG347240KIF24 9 34259682 missense C T Sanger sequencing 0.9406 deleterious
AutG10497UNC13B 9 35382420 synonymous G A Sanger sequencing
AutG9853RUSC2 9 35559246 missense T G Sanger sequencing 0.8135 deleterious
AutG881CCIN 9 36170717 frameshift AG A Sanger sequencing
AutG881CCIN 9 36170719 missense G C Sanger sequencing 0.8213 deleterious
AutG79269DCAF10 9 37861232 synonymous T C Sanger sequencing
AutG6461SHB 9 37974819 missense T C Sanger sequencing 0.0707 neutral
AutG7763ZFAND5 9 74975090 nonsense G A Sanger sequencing
AutG301ANXA1 9 75777757 missense G A Sanger sequencing 0.4809 deleterious
AutG158471PRUNE2 9 79325023 missense G A Sanger sequencing 0.026 neutral
AutG1842ECM2 9 95285164 START_GAINED A C Sanger sequencing
AutG138639PTPDC1 9 96860735 synonymous T C Sanger sequencing
AutG54881TEX10 9 103066077 missense C T Sanger sequencing 0.8196 deleterious
AutG58499ZNF462 9 109697811 frameshift CG C Sanger sequencing
AutG11217AKAP2 9 112898448 synonymous C T Sanger sequencing
AutG7099TLR4 9 120475490 missense A G Sanger sequencing 0.0132 neutral
AutG5082PDCL 9 125582651 missense C T Sanger sequencing 0.0396 neutral
AutG55342STRBP 9 125909143 synonymous T C Sanger sequencing
AutG286204CRB2 9 126133005 missense C T Sanger sequencing 0.0879 neutral
AutG11224RPL35 9 127620304 missense G A Sanger sequencing 0.8988 deleterious
AutG5090PBX3 9 128678099 missense G C Sanger sequencing 0.9969 deleterious
AutG6136RPL12 9 130210655 nonsense G A Sanger sequencing
AutG6812STXBP1 9 130444788 missense C T Sanger sequencing 0.9987 deleterious
AutG2356FPGS 9 130575637 frameshift A AC Sanger sequencing
AutG2021ENDOG 9 131584649 synonymous C T Sanger sequencing
AutG23511NUP188 9 131721169 missense A G Sanger sequencing 0.9731 deleterious
AutG1384CRAT 9 131857751 synonymous G A Sanger sequencing
AutG23064SETX 9 135172298 synonymous G C Sanger sequencing
AutG7270TTF1 9 135278051 missense T C Sanger sequencing 0.0062 neutral
AutG9919SEC16A 9 139371548 missense G A Sanger sequencing 0.0984 neutral
AutG286262TPRN 9 140087111 synonymous C T Sanger sequencing
AutG54863C9orf167 9 140173375 synonymous C T Sanger sequencing
AutG774CACNA1B 9 140772650 missense A G Sanger sequencing 0.4965 deleterious
AutG23560GTPBP4 10 1061781 missense G A Sanger sequencing 0.6635 deleterious
AutG5214PFKP 10 3124608 missense G A Sanger sequencing 0.1146 neutral
AutG10531PITRM1 10 3185641 missense G A Sanger sequencing 0.1531 neutral
FAM208B 10 5788619 missense A G Sanger sequencing 0.0167 neutral
AutG3601IL15RA 10 6002348 missense C T Sanger sequencing 0.001 neutral
AutG57118CAMK1D 10 12595287 synonymous G A Sanger sequencing
AutG57118CAMK1D 10 12595343 missense C A Sanger sequencing 0.8065 deleterious
AutG8029CUBN 10 16962087 synonymous C T Sanger sequencing
AutG9200PTPLA 10 17645573 missense G C Sanger sequencing
AutG2572GAD2 10 26589827 synonymous G A Sanger sequencing
AutG6840SVIL 10 29769625 nonsense C A Sanger sequencing
AutG220929ZNF438 10 31138594 missense G A Sanger sequencing 0.0105 neutral
AutG1390CREM 10 35500293 synonymous C T Sanger sequencing
AutG220992ZNF485 10 44112244 synonymous C T Sanger sequencing
AutG474354LRRC18 10 50121522 missense T C Sanger sequencing 0.0291 neutral
AutG2074ERCC6 10 50691429 missense C T Sanger sequencing 0.5125 deleterious
AutG22943DKK1 10 54074405 missense G A Sanger sequencing 0.4552 neutral
AutG220963SLC16A9 10 61432662 missense C A Sanger sequencing 0.998 deleterious
AutG8030CCDC6 10 61552824 missense G C Sanger sequencing 0.682 deleterious
AutG84159ARID5B 10 63759976 frameshift T TG Sanger sequencing
AutG221037JMJD1C 10 64967942 missense T C Sanger sequencing 0.0479 neutral
AutG1763DNA2 10 70181995 missense A C Sanger sequencing 0.9858 deleterious
AutG79009DDX50 10 70673870 synonymous A G Sanger sequencing
AutG219699UNC5B 10 73046511 synonymous C T Sanger sequencing
AutG64072CDH23 10 73464800 missense G A Sanger sequencing 0.9718 deleterious
AutG64072CDH23 10 73491982 synonymous C T Sanger sequencing
AutG170384FUT11 10 75535200 missense A G Sanger sequencing 0.0045 neutral
AutG8509NDST2 10 75566524 missense C T Sanger sequencing 0.9168 deleterious
AutG7417VDAC2 10 76970931 synonymous A G Sanger sequencing
AutG3778KCNMA1 10 78869948 missense A C Sanger sequencing 0.9289 deleterious
AutG3778KCNMA1 10 78943225 synonymous C T Sanger sequencing
AutG9231DLG5 10 79569329 synonymous G A Sanger sequencing
AutG79812MMRN2 10 88703271 missense C T Sanger sequencing 0.2049 neutral
AutG2746GLUD1 10 88819023 missense T C Sanger sequencing 0.9875 deleterious
AutG9060PAPSS2 10 89504934 missense G T Sanger sequencing 0.9919 deleterious
AutG84896ATAD1 10 89552422 missense T C Sanger sequencing 0.145 neutral
AutG5728PTEN 10 89711874 splice G A Sanger sequencing
AutG3070HELLS 10 96322608 missense A G Sanger sequencing 0.0088 neutral
AutG54619CCNJ 10 97816903 synonymous G A Sanger sequencing
AutG1791DNTT 10 98064396 missense C T Sanger sequencing 0.9657 deleterious
AutG23223RRP12 10 99160118 missense C T Sanger sequencing 0.0217 neutral
AutG23268DNMBP 10 101637066 missense C A Sanger sequencing 0.2215 neutral
AutG23268DNMBP 10 101731776 missense C T Sanger sequencing 0.9354 deleterious
AutG9033PKD2L1 10 102054351 missense G A Sanger sequencing 0.0743 neutral
AutG8945BTRC 10 103221816 splice G A Sanger sequencing
AutG79803HPS6 10 103826022 missense C T Sanger sequencing 0.1339 neutral
AutG8861LDB1 10 103870671 frameshift TG T Sanger sequencing
AutG1586CYP17A1 10 104595121 missense C T Sanger sequencing 0.2283 neutral
AutG54805CNNM2 10 104835900 missense G A Sanger sequencing 0.8962 deleterious
AutG22978NT5C2 10 104854118 missense C T Sanger sequencing 0.9226 deleterious
AutG9644SH3PXD2A 10 105363080 missense G C Sanger sequencing 0.0129 neutral
AutG22986SORCS3 10 107005369 nonsense C T Sanger sequencing
AutG4892NRAP 10 115411623 missense G A Sanger sequencing 0.6316 deleterious
AutG259217HSPA12A 10 118434404 missense C T Sanger sequencing 0.9326 deleterious
AutG22841RAB11FIP2 10 119768600 missense T A Sanger sequencing 0.9575 deleterious
AutG8661EIF3A 10 120832478 synonymous C T Sanger sequencing
AutG59338PLEKHA1 10 124183733 missense G T Sanger sequencing 0.0576 neutral
AutG118856MMP21 10 127461301 missense G A Sanger sequencing 0.2405 neutral
AutG118611C10orf90 10 128118361 synonymous A G Sanger sequencing
AutG4288MKI67 10 129906031 missense T A Sanger sequencing 0.5591 deleterious
AutG10844TUBGCP2 10 135106567 missense T C Sanger sequencing 0.3687 neutral
AutG171389NLRP6 11 284614 missense C A Sanger sequencing 0.0048 neutral
AutG8519IFITM1 11 314978 missense C T Sanger sequencing
AutG57661PHRF1 11 609438 missense G A Sanger sequencing 0.0002 neutral
AutG10522DEAF1 11 687917 missense C T Sanger sequencing 0.6759 deleterious
AutG10522DEAF1 11 687919 missense A G Sanger sequencing 0.7282 deleterious
AutG10522DEAF1 11 688377 synonymous G A Sanger sequencing
AutG4588MUC6 11 1016042 missense C G Sanger sequencing 0.0247 neutral
AutG4583MUC2 11 1093562 missense C G Sanger sequencing 0.0016 neutral
AutG4583MUC2 11 1101090 missense G A Sanger sequencing 0.0016 neutral
AutG9024BRSK2 11 1471005 splice G C Sanger sequencing
AutG4046LSP1 11 1901434 synonymous G A Sanger sequencing
AutG29850TRPM5 11 2432681 synonymous G A Sanger sequencing
AutG3784KCNQ1 11 2683228 synonymous C T Sanger sequencing
AutG4928NUP98 11 3721958 synonymous G A Sanger sequencing
AutG401667OR51A2 11 4976751 frameshift G GA Sanger sequencing
AutG390064OR51I2 11 5474867 missense G A Sanger sequencing 0.0949 neutral
AutG390079OR52E8 11 5878672 missense C A Sanger sequencing 0.4165 neutral
AutG6609SMPD1 11 6412699 missense C A Sanger sequencing 0.142 neutral
AutG23378RRP8 11 6621480 missense G A Sanger sequencing 0.4242 neutral
AutG7762ZNF215 11 6977626 missense G A Sanger sequencing 0.0664 neutral
AutG8495PPFIBP2 11 7663553 synonymous T C Sanger sequencing
AutG79608RIC3 11 8190433 missense T C Sanger sequencing 0.0381 neutral
AutG23258DENND5A 11 9163520 splice C T Sanger sequencing 0.9726 deleterious
AutG23258DENND5A 11 9172264 missense T C Sanger sequencing 0.8683 deleterious
AutG9646CTR9 11 10794110 missense C T Sanger sequencing 0.4977 neutral
AutG1982EIF4G2 11 10821664 missense T C Sanger sequencing 0.4374 neutral
AutG374378GALNTL4 11 11394085 missense C T Sanger sequencing
AutG84953MICALCL 11 12371396 missense C G Sanger sequencing 0.4478 neutral
AutG7003TEAD1 11 12785933 missense C T Sanger sequencing 0.8201 deleterious
AutG84188FAR1 11 13733355 synonymous G A Sanger sequencing
AutG387755INSC 11 15222445 frameshift AC A Sanger sequencing
AutG5286PIK3C2A 11 17139181 missense T C Sanger sequencing 0.1356 neutral
AutG4925NUCB2 11 17333437 missense T C Sanger sequencing 0.5742 deleterious
AutG55293UEVLD 11 18591900 missense C T Sanger sequencing 0.0421 neutral
AutG117194MRGPRX2 11 19076997 missense C T Sanger sequencing 0.1367 neutral
AutG9152SLC6A5 11 20657880 missense C T Sanger sequencing 0.5125 deleterious
AutG159963SLC5A12 11 26725149 synonymous G A Sanger sequencing
AutG55366LGR4 11 27390002 synonymous A G Sanger sequencing
AutG3739KCNA4 11 30033315 missense C A Sanger sequencing 0.9195 deleterious
AutG493860CCDC73 11 32635980 synonymous A G Sanger sequencing
AutG55346TCP11L1 11 33106655 missense C T Sanger sequencing
AutG25758C11orf41 11 33581339 synonymous C T Sanger sequencing
AutG2132EXT2 11 44219412 missense C T Sanger sequencing 0.9449 deleterious
AutG55343SLC35C1 11 45827567 missense C G Sanger sequencing 0.017 neutral
AutG84364ARFGAP2 11 47193288 missense G A Sanger sequencing 0.6856 deleterious
AutG55709KBTBD4 11 47595152 missense C T Sanger sequencing 0.9658 deleterious
AutG55709KBTBD4 11 47597183 missense T C Sanger sequencing 0.4963 deleterious
AutG390148OR5W2 11 55681687 synonymous C T Sanger sequencing
AutG219469OR8H1 11 56058115 missense C T Sanger sequencing 0.0085 neutral
AutG187APLNR 11 57003801 synonymous T C Sanger sequencing
AutG10978CLP1 11 57428454 missense G T Sanger sequencing 0.8858 deleterious
AutG219952OR6Q1 11 57798755 missense C T Sanger sequencing 0.0271 neutral
AutG219968OR5B21 11 58275286 missense T C Sanger sequencing 0.9247 deleterious
AutG64231MS4A6A 11 59949115 missense G T Sanger sequencing 0.0632 neutral
AutG9066SYT7 11 61300522 missense C T Sanger sequencing 0.0843 neutral
AutG2237FEN1 11 61563334 synonymous G A Sanger sequencing
AutG79026AHNAK 11 62297085 missense G A Sanger sequencing 0.913 deleterious
AutG79026AHNAK 11 62302541 synonymous G A Sanger sequencing
AutG64852TUT1 11 62358947 missense A C Sanger sequencing 0.1207 neutral
AutG1128CHRM1 11 62677944 missense C A Sanger sequencing 0.7269 deleterious
AutG11145PLA2G16 11 63342519 splice C G Sanger sequencing
AutG144097C11orf84 11 63585723 missense A G Sanger sequencing 0.0289 neutral
AutG2011MARK2 11 63666549 missense A C Sanger sequencing 0.9991 deleterious
AutG57410SCYL1 11 65306023 missense C T Sanger sequencing 0.698 deleterious
AutG4054LTBP3 11 65308738 CODON_DELETION CCTT C Sanger sequencing
AutG6494SIPA1 11 65418056 missense C A Sanger sequencing 0.2863 neutral
AutG5017OVOL1 11 65562633 frameshift C CG Sanger sequencing
AutG10992SF3B2 11 65824803 missense G C Sanger sequencing 0.9219 deleterious
AutG64837KLC2 11 66031216 missense G C Sanger sequencing 0.0257 neutral
AutG10072DPP3 11 66254814 splice G A Sanger sequencing
AutG10072DPP3 11 66261048 missense G A Sanger sequencing 0.792 deleterious
AutG55231CCDC87 11 66358680 missense T G Sanger sequencing 0.1324 neutral
AutG10432RBM14 11 66392971 missense G A Sanger sequencing 0.9586 deleterious
AutG6712SPTBN2 11 66453370 missense C T Sanger sequencing 0.5145 deleterious
AutG9986RCE1 11 66611241 missense C T Sanger sequencing 0.3618 neutral
AutG51111SUV420H1 11 67925466 nonsense G A Sanger sequencing
AutG51111SUV420H1 11 67941366 frameshift CAAAT C Sanger sequencing
AutG4041LRP5 11 68174018 missense G A Sanger sequencing 0.8809 deleterious
AutG4041LRP5 11 68201226 missense G A Sanger sequencing 0.5317 deleterious
AutG4926NUMA1 11 71726076 missense C T Sanger sequencing 0.4617 neutral
AutG4926NUMA1 11 71727496 missense G T Sanger sequencing 0.4453 neutral
AutG26005C2CD3 11 73809244 missense T C Sanger sequencing 0.7639 deleterious
AutG11309SLCO2B1 11 74904279 synonymous G A Sanger sequencing
AutG56946C11orf30 11 76234322 nonsense T A Sanger sequencing
AutG51773RSF1 11 77458112 missense A G Sanger sequencing 0.8782 deleterious
AutG60492CCDC90B 11 82989819 missense T C Sanger sequencing 0.0566 neutral
AutG1740DLG2 11 83497765 missense G C Sanger sequencing 0.0032 neutral
AutG120114FAT3 11 92258103 missense A G Sanger sequencing 0.8015 deleterious
AutG85459KIAA1731 11 93412615 missense G A Sanger sequencing
AutG341208HEPHL1 11 93796879 missense C G Sanger sequencing 0.9439 deleterious
AutG143689PIWIL4 11 94340642 missense A T Sanger sequencing 0.9424 deleterious
AutG330BIRC3 11 102201741 nonsense G T Sanger sequencing
AutG4863NPAT 11 108043794 synonymous T G Sanger sequencing
AutG23086EXPH5 11 108381396 missense C A Sanger sequencing 0.0725 neutral
AutG5519PPP2R1B 11 111631749 synonymous C A Sanger sequencing
AutG4684NCAM1 11 113114295 missense G C Sanger sequencing
AutG255239ANKK1 11 113270025 missense G A Sanger sequencing 0.2213 neutral
AutG54827FAM55D 11 114441796 missense T G Sanger sequencing
AutG257160RNF214 11 117109607 missense G A Sanger sequencing 0.0007 neutral
AutG257160RNF214 11 117152397 missense C T Sanger sequencing 0.3407 neutral
AutG4297MLL 11 118344818 missense T A Sanger sequencing 0.1040 neutral
AutG4297MLL 11 118360578 frameshift AC A Sanger sequencing
AutG3145HMBS 11 118959833 missense C T Sanger sequencing 0.1325 neutral
AutG220323OAF 11 120096386 missense G C Sanger sequencing 0.9818 deleterious
AutG2900GRIK4 11 120690516 missense G T Sanger sequencing 0.9515 deleterious
AutG7007TECTA 11 120996340 synonymous C T Sanger sequencing
AutG7007TECTA 11 120998556 missense G A Sanger sequencing 0.412 neutral
AutG63876PKNOX2 11 125281736 missense G A Sanger sequencing 0.8191 deleterious
AutG83480PUS3 11 125765418 missense C G Sanger sequencing 0.8261 deleterious
AutG50937CDON 11 125831706 missense G A Sanger sequencing 0.5414 deleterious
AutG50937CDON 11 125864185 missense C T Sanger sequencing 0.5414 deleterious
AutG50937CDON 11 125871738 synonymous T C Sanger sequencing
AutG84623KIRREL3 11 126333180 missense C T Sanger sequencing 0.8227 deleterious
AutG2113ETS1 11 128442976 missense G A Sanger sequencing 0.0175 neutral
AutG9743ARHGAP32 11 128839782 missense G A Sanger sequencing 0.704 deleterious
AutG6768ST14 11 130069939 missense C G Sanger sequencing 0.0241 neutral
AutG6539SLC6A12 12 308075 missense A C Sanger sequencing 0.9963 deleterious
AutG6540SLC6A13 12 346455 missense G A Sanger sequencing 0.9947 deleterious
AutG2305FOXM1 12 2968180 missense G A Sanger sequencing 0.472 deleterious
AutG5763PTMS 12 6879340 nonsense G T Sanger sequencing
AutG283316CD163L1 12 7510021 frameshift A AG Sanger sequencing
AutG283316CD163L1 12 7551094 missense T C Sanger sequencing 0.8797 deleterious
AutG55138FAM90A1 12 8374721 synonymous C T Sanger sequencing
AutG2A2M 12 9220801 synonymous C T Sanger sequencing
AutG54682MANSC1 12 12483027 synonymous T C Sanger sequencing
AutG54682MANSC1 12 12483385 missense G A Sanger sequencing 0.0247 neutral
AutG28234SLCO1B3 12 21028412 splice G A Sanger sequencing
AutG10599SLCO1B1 12 21353467 missense C G Sanger sequencing 0.0261 neutral
AutG10599SLCO1B1 12 21353475 missense A T Sanger sequencing 0.919 deleterious
AutG9412MED21 12 27180296 missense T G Sanger sequencing 0.8993 deleterious
AutG55196C12orf35 12 32134096 synonymous T C Sanger sequencing
AutG29951PDZRN4 12 41967048 missense G A Sanger sequencing 0.0006 neutral
AutG5756TWF1 12 44190856 missense G A Sanger sequencing 0.9981 deleterious
AutG440097DBX2 12 45410229 nonsense G C Sanger sequencing
AutG10411RAPGEF3 12 48131375 frameshift C CG Sanger sequencing
AutG54934C12orf41 12 49062942 missense G A Sanger sequencing
AutG57701NCKAP5L 12 50188994 synonymous G A Sanger sequencing
AutG57609DIP2B 12 51069223 missense T A Sanger sequencing 0.9494 deleterious
AutG3887KRT81 12 52681414 missense C T Sanger sequencing 0.6273 deleterious
AutG3888KRT82 12 52799948 synonymous G A Sanger sequencing
AutG9119KRT75 12 52825828 missense G A Sanger sequencing 0.8922 deleterious
AutG112802KRT71 12 52942001 missense G A Sanger sequencing 0.6891 deleterious
AutG23371TENC1 12 53454931 missense G A Sanger sequencing
AutG3695ITGB7 12 53586569 missense G A Sanger sequencing 0.27 neutral
AutG3678ITGA5 12 54793722 nonsense C A Sanger sequencing
AutG5153PDE1B 12 54966430 missense G A Sanger sequencing 0.8932 deleterious
AutG23344ESYT1 12 56522182 missense C T Sanger sequencing 0.0806 neutral
AutG6601SMARCC2 12 56566368 splice C A Sanger sequencing
AutG283375SLC39A5 12 56629024 missense C T Sanger sequencing 0.4554 neutral
AutG6773STAT2 12 56744934 missense G A Sanger sequencing 0.1016 neutral
AutG8914TIMELESS 12 56817589 missense G A Sanger sequencing 0.2258 neutral
AutG4035LRP1 12 57599250 missense G A Sanger sequencing 0.2502 neutral
AutG3798KIF5A 12 57970127 missense A G Sanger sequencing 0.4998 deleterious
AutG116986AGAP2 12 58125237 missense C T Sanger sequencing 0.1263 neutral
AutG1594CYP27B1 12 58157512 missense C T Sanger sequencing 0.9976 deleterious
AutG283417DPY19L2 12 64062118 missense G A Sanger sequencing 0.3124 neutral
AutG57522SRGAP1 12 64519821 synonymous C T Sanger sequencing
AutG29110TBK1 12 64890764 missense C T Sanger sequencing 0.3052 neutral
AutG283349RASSF3 12 65082212 CODON_DELETION CGTT C Sanger sequencing
AutG23592LEMD3 12 65639657 missense A C Sanger sequencing 0.6219 deleterious
AutG4193MDM2 12 69210702 synonymous A C Sanger sequencing
AutG5787PTPRB 12 70946590 missense C T Sanger sequencing 0.9454 deleterious
AutG5801PTPRR 12 71092102 nonsense T A Sanger sequencing
AutG196441ZFC3H1 12 72004328 synonymous T C Sanger sequencing
AutG6857SYT1 12 79689961 missense C G Sanger sequencing 0.8781 deleterious
AutG7334UBE2N 12 93804590 missense C T Sanger sequencing 0.5243 deleterious
AutG10988METAP2 12 95867964 synonymous T G Sanger sequencing
AutG55681SCYL2 12 100709337 missense G A Sanger sequencing 0.9968 deleterious
AutG283431GAS2L3 12 101011562 synonymous T A Sanger sequencing
AutG160728SLC5A8 12 101584304 missense C T Sanger sequencing 0.4639 neutral
AutG79158GNPTAB 12 102164185 missense T C Sanger sequencing 0.5649 deleterious
AutG51019CCDC53 12 102437956 missense A G Sanger sequencing 0.4467 neutral
AutG5992RFX4 12 107126711 missense G A Sanger sequencing 0.4384 neutral
AutG121551BTBD11 12 107937726 missense C T Sanger sequencing 0.7638 deleterious
AutG11108PRDM4 12 108145614 missense A G Sanger sequencing 0.9769 deleterious
AutG11153FICD 12 108912728 missense G A Sanger sequencing 0.03 neutral
AutG54434SSH1 12 109182009 missense C T Sanger sequencing 0.0788 neutral
AutG32ACACB 12 109644616 synonymous C T Sanger sequencing
AutG326625MMAB 12 109996929 missense C T Sanger sequencing 0.4564 deleterious
AutG4598MVK 12 110023830 missense G T Sanger sequencing 0.8702 deleterious
AutG84915C12orf34 12 110206986 missense C T Sanger sequencing
AutG9815GIT2 12 110397718 missense G T Sanger sequencing 0.9617 deleterious
AutG9815GIT2 12 110397719 synonymous C A Sanger sequencing
AutG488ATP2A2 12 110778685 synonymous C T Sanger sequencing
AutG488ATP2A2 12 110780170 synonymous C T Sanger sequencing
AutG51184GPN3 12 110893672 missense T C Sanger sequencing 0.627 deleterious
AutG23316CUX2 12 111748483 nonsense C T Sanger sequencing
AutG80724ACAD10 12 112187030 missense G T Sanger sequencing 0.5747 deleterious
AutG283450C12orf51 12 112600303 missense C T Sanger sequencing
AutG283450C12orf51 12 112607491 synonymous A C Sanger sequencing
AutG283450C12orf51 12 112614406 nonsense G A Sanger sequencing
AutG4940OAS3 12 113405230 synonymous G T Sanger sequencing
AutG1840DTX1 12 113515286 missense G A Sanger sequencing 0.9959 deleterious
AutG8437RASAL1 12 113537769 nonsense G A Sanger sequencing
AutG8437RASAL1 12 113544958 missense C G Sanger sequencing 0.0086 neutral
AutG53373TPCN1 12 113724837 synonymous G A Sanger sequencing
AutG254050LRRC43 12 122685163 missense A G Sanger sequencing 0.0111 neutral
AutG254050LRRC43 12 122685164 missense A G Sanger sequencing 0.0144 neutral
AutG8562DENR 12 123246737 missense G A Sanger sequencing 0.991 deleterious
AutG57605PITPNM2 12 123470840 missense G A Sanger sequencing 0.2582 neutral
AutG57605PITPNM2 12 123489035 synonymous C T Sanger sequencing
AutG55206SBNO1 12 123798209 missense T C Sanger sequencing 0.092 neutral
AutG79867TCTN2 12 124191337 missense C T Sanger sequencing 0.1115 neutral
AutG57647DHX37 12 125465134 missense T C Sanger sequencing 0.1732 neutral
AutG114795TMEM132B 12 126139127 synonymous C T Sanger sequencing
AutG23504RIMBP2 12 130935769 frameshift CG C Sanger sequencing
AutG283383GPR133 12 131590314 synonymous C T Sanger sequencing
AutG8408ULK1 12 132400965 missense C T Sanger sequencing 0.2474 neutral
AutG57634EP400 12 132466931 frameshift A ATCCC Sanger sequencing
AutG57634EP400 12 132498194 synonymous C T Sanger sequencing
AutG9107MTMR6 13 25823414 missense C A Sanger sequencing 0.1404 neutral
AutG6049RNF6 13 26788664 missense C T Sanger sequencing 0.2237 neutral
AutG432369ATP5EP2 13 28519532 missense G A Sanger sequencing
AutG10129FRY 13 32698445 missense T A Sanger sequencing 0.1173 neutral
AutG10129FRY 13 32761742 synonymous T C Sanger sequencing
AutG675BRCA2 13 32915264 missense G A Sanger sequencing 0.0395 neutral
AutG675BRCA2 13 32929306 missense G A Sanger sequencing 0.4272 neutral
AutG675BRCA2 13 32968952 missense G A Sanger sequencing 0.9696 deleterious
AutG26960NBEA 13 36180647 missense G A Sanger sequencing 0.2585 neutral
AutG7223TRPC4 13 38266412 missense C T Sanger sequencing 0.7431 deleterious
AutG341640FREM2 13 39264446 missense C T Sanger sequencing 0.9223 deleterious
AutG23078KIAA0564 13 42293799 missense A G Sanger sequencing
AutG29079MED4 13 48657525 missense T C Sanger sequencing 0.8739 deleterious
AutG84650EBPL 13 50235260 missense G C Sanger sequencing
AutG9724UTP14C 13 52603682 missense A G Sanger sequencing 0.7414 deleterious
AutG10910SUGT1 13 53261963 missense A C Sanger sequencing 0.7744 deleterious
AutG27253PCDH17 13 58240602 missense A G Sanger sequencing 0.9082 deleterious
AutG22894DIS3 13 73346895 missense T C Sanger sequencing 0.5246 deleterious
AutG9882TBC1D4 13 75930292 synonymous G A Sanger sequencing
AutG23077MYCBP2 13 77700568 missense A G Sanger sequencing 0.0089 neutral
AutG23077MYCBP2 13 77760058 synonymous G C Sanger sequencing
AutG2262GPC5 13 92560202 missense G A Sanger sequencing 0.1592 neutral
AutG55757UGGT2 13 96536926 missense C T Sanger sequencing 0.9925 deleterious
AutG7174TPP2 13 103288643 missense G T Sanger sequencing 0.9587 deleterious
AutG79070KDELC1 13 103443708 missense T C Sanger sequencing 0.0902 neutral
AutG23250ATP11A 13 113530101 missense A G Sanger sequencing 0.0246 neutral
AutG2155F7 13 113773238 synonymous G A Sanger sequencing
AutG113622ADPRHL1 13 114107662 missense T C Sanger sequencing 0.0105 neutral
AutG328APEX1 14 20925282 missense C G Sanger sequencing 0.2164 neutral
AutG57680CHD8 14 21870652 missense C T Sanger sequencing 0.9966 deleterious
AutG57680CHD8 14 21876700 missense A G Sanger sequencing 0.9997 deleterious
AutG5018OXA1L 14 23240676 missense T C Sanger sequencing 0.8789 deleterious
AutG4624MYH6 14 23856995 synonymous G T Sanger sequencing
AutG7051TGM1 14 24724606 missense G A Sanger sequencing 0.955 deleterious
AutG7051TGM1 14 24731032 frameshift C CG Sanger sequencing
AutG57523NYNRIN 14 24885730 missense G A Sanger sequencing 0.1765 neutral
AutG2290FOXG1 14 29237624 missense C T Sanger sequencing 0.9619 deleterious
AutG2290FOXG1 14 29237631 synonymous C G Sanger sequencing
AutG2290FOXG1 14 29237726 missense C A Sanger sequencing 0.2997 neutral
AutG5587PRKD1 14 30102082 missense T C Sanger sequencing 0.8391 deleterious
AutG29966STRN3 14 31425374 missense C G Sanger sequencing 0.0168 neutral
AutG394ARHGAP5 14 32560858 missense A C Sanger sequencing 0.9322 deleterious
AutG64067NPAS3 14 34269619 synonymous C G Sanger sequencing
AutG84684INSM2 14 36005002 missense G T Sanger sequencing 0.1404 neutral
AutG253959RALGAPA1 14 36133921 missense T G Sanger sequencing 0.846 deleterious
AutG10484SEC23A 14 39514393 missense C T Sanger sequencing 0.5806 deleterious
GEMIN2 14 39605657 missense C T Sanger sequencing 0.1321 neutral
AutG4253CTAGE5 14 39777734 missense A G Sanger sequencing 0.0619 neutral
AutG145581LRFN5 14 42356586 missense G A Sanger sequencing 0.9569 deleterious
AutG55015PRPF39 14 45571806 nonsense G A Sanger sequencing
AutG161357MDGA2 14 47311217 missense C T Sanger sequencing 0.0839 neutral
AutG11183MAP4K5 14 50912820 missense T C Sanger sequencing 0.0128 neutral
AutG5836PYGL 14 51410920 missense A C Sanger sequencing 0.5125 deleterious
AutG122786FRMD6 14 52182165 synonymous T C Sanger sequencing
AutG22795NID2 14 52477726 missense C T Sanger sequencing 0.0251 neutral
AutG57544TXNDC16 14 52955112 missense A C Sanger sequencing 0.013 neutral
AutG11169WDHD1 14 55477154 missense A G Sanger sequencing 0.9898 deleterious
AutG10640EXOC5 14 57676376 missense T C Sanger sequencing 0.9059 deleterious
AutG51339DACT1 14 59113803 missense A T Sanger sequencing 0.9054 deleterious
AutG23224SYNE2 14 64532269 synonymous G A Sanger sequencing
AutG6710SPTB 14 65253441 missense T C Sanger sequencing 0.6028 deleterious
AutG23503ZFYVE26 14 68242625 missense C T Sanger sequencing 0.9324 deleterious
AutG26037SIPA1L1 14 72054914 synonymous C T Sanger sequencing
AutG8650NUMB 14 73743597 missense G A Sanger sequencing 0.4204 neutral
AutG5826ABCD4 14 74759259 synonymous C T Sanger sequencing
AutG56252YLPM1 14 75266198 missense C T Sanger sequencing 0.8923 deleterious
AutG9369NRXN3 14 80158587 missense G A Sanger sequencing 0.9857 deleterious
AutG6400SEL1L 14 81952041 synonymous T C Sanger sequencing
AutG2581GALC 14 88442767 synonymous G A Sanger sequencing
AutG79882ZC3H14 14 89034439 nonsense C T Sanger sequencing
AutG161436EML5 14 89154652 missense T C Sanger sequencing 0.7621 deleterious
AutG10516FBLN5 14 92403413 missense G C Sanger sequencing 0.3069 neutral
AutG53981CPSF2 14 92600459 missense A G Sanger sequencing 0.9987 deleterious
AutG79890RIN3 14 93118106 missense A G Sanger sequencing 0.2398 neutral
AutG26175C14orf109 14 93653012 missense C T Sanger sequencing
AutG57718PPP4R4 14 94674843 synonymous C T Sanger sequencing
AutG23405DICER1 14 95571439 missense C T Sanger sequencing 0.8921 deleterious
AutG9623TCL1B 14 96152831 synonymous A G Sanger sequencing
AutG1778DYNC1H1 14 102453029 missense G T Sanger sequencing 0.7834 deleterious
AutG1778DYNC1H1 14 102478291 missense C T Sanger sequencing 0.9779 deleterious
AutG1778DYNC1H1 14 102483206 missense A G Sanger sequencing 0.9779 deleterious
AutG1778DYNC1H1 14 102510723 missense A T Sanger sequencing 0.0913 neutral
AutG55778ZNF839 14 102808176 missense A C Sanger sequencing 0.022 neutral
AutG9578CDC42BPB 14 103404494 missense C T Sanger sequencing 0.1053 neutral
AutG7127TNFAIP2 14 103598072 synonymous G A Sanger sequencing
AutG3831KLC1 14 104142064 frameshift C CG Sanger sequencing
AutG23368PPP1R13B 14 104205312 missense C T Sanger sequencing 0.9109 deleterious
AutG122622ADSSL1 14 105212710 missense G C Sanger sequencing 0.0536 neutral
AutG122618PLD4 14 105398680 missense G T Sanger sequencing 0.0342 neutral
AutG113146AHNAK2 14 105410213 missense C T Sanger sequencing 0.0596 neutral
AutG113146AHNAK2 14 105411605 missense C G Sanger sequencing 0.013 neutral
AutG90135BTBD6 14 105716364 frameshift CAA C Sanger sequencing
AutG2562GABRB3 15 26793067 frameshift GA G Sanger sequencing
AutG8924HERC2 15 28377973 synonymous C T Sanger sequencing
AutG51621KLF13 15 31664373 synonymous G A Sanger sequencing
AutG6263RYR3 15 33955026 synonymous A G Sanger sequencing
AutG57099AVEN 15 34159944 missense A C Sanger sequencing 0.1815 neutral
AutG256646C15orf55 15 34647243 missense C G Sanger sequencing
AutG254531LPCAT4 15 34651913 missense G A Sanger sequencing 0.5125 deleterious
AutG9716AQR 15 35230988 missense G A Sanger sequencing 0.5838 deleterious
AutG89978ATPBD4 15 35742921 missense T C Sanger sequencing
AutG283742FAM98B 15 38766428 missense T C Sanger sequencing 0.9511 deleterious
AutG57082CASC5 15 40916097 missense C T Sanger sequencing 0.0143 neutral
AutG55177FAM82A2 15 41044271 missense A T Sanger sequencing
AutG23168RTF1 15 41745214 missense A C Sanger sequencing 0.4068 neutral
AutG4058LTK 15 41796800 missense C T Sanger sequencing 0.2065 neutral
AutG7301TYRO3 15 41853769 missense G A Sanger sequencing 0.1123 neutral
AutG51332SPTBN5 15 42168347 missense G C Sanger sequencing 0.0628 neutral
AutG64397ZFP106 15 42717184 missense G A Sanger sequencing
AutG7158TP53BP1 15 43705517 missense C T Sanger sequencing 0.0842 neutral
AutG53905DUOX1 15 45448101 missense C G Sanger sequencing 0.8749 deleterious
AutG53905DUOX1 15 45448118 synonymous C G Sanger sequencing
AutG2200FBN1 15 48720623 missense C T Sanger sequencing 0.978 deleterious
AutG9318COPS2 15 49429353 synonymous C T Sanger sequencing
AutG9101USP8 15 50769642 synonymous A G Sanger sequencing
AutG23431AP4E1 15 51291288 missense G T Sanger sequencing 0.0517 neutral
AutG123169LEO1 15 52242140 nonsense G A Sanger sequencing
AutG10681GNB5 15 52427874 missense T C Sanger sequencing 0.0038 neutral
AutG4644MYO5A 15 52718114 missense A C Sanger sequencing 0.4875 neutral
AutG64864RFX7 15 56387330 missense G A Sanger sequencing 0.148 neutral
AutG64864RFX7 15 56387798 frameshift C CT Sanger sequencing
AutG145781GCOM1 15 57913816 missense C T Sanger sequencing 0.6953 deleterious
AutG54629FAM63B 15 59064294 missense A G Sanger sequencing 0.987 deleterious
AutG6095RORA 15 60792113 missense C T Sanger sequencing 0.2533 neutral
AutG83660TLN2 15 63089511 synonymous G A Sanger sequencing
AutG9325TRIP4 15 64692977 synonymous T G Sanger sequencing
AutG80119PIF1 15 65110238 synonymous G A Sanger sequencing
AutG8483CILP 15 65496832 synonymous G A Sanger sequencing
AutG9187SLC24A1 15 65918236 missense C G Sanger sequencing 0.4126 neutral
AutG84465MEGF11 15 66210324 missense A G Sanger sequencing 0.0465 neutral
AutG5604MAP2K1 15 66729163 missense C T Sanger sequencing 0.9638 deleterious
AutG5607MAP2K5 15 67985878 missense C T Sanger sequencing 0.2061 neutral
AutG8554PIAS1 15 68378807 missense G A Sanger sequencing 0.9931 deleterious
AutG55075UACA 15 70957107 missense T C Sanger sequencing 0.0636 neutral
AutG1544CYP1A2 15 75047147 synonymous C T Sanger sequencing
AutG25942SIN3A 15 75684849 missense G A Sanger sequencing 0.7894 deleterious
AutG145957NRG4 15 76248271 splice A C Sanger sequencing
AutG11173ADAMTS7 15 79058739 missense G A Sanger sequencing 0.0603 neutral
AutG9915ARNT2 15 80806697 synonymous A G Sanger sequencing
AutG57538ALPK3 15 85401772 missense A G Sanger sequencing 0.0135 neutral
AutG9154SLC28A1 15 85476378 synonymous C T Sanger sequencing
AutG5151PDE8A 15 85610406 synonymous T A Sanger sequencing
AutG145864HAPLN3 15 89424873 frameshift A AG Sanger sequencing
AutG51458RHCG 15 90026334 synonymous G A Sanger sequencing
AutG342132ZNF774 15 90904162 missense A G Sanger sequencing 0.9342 deleterious
AutG64784CRTC3 15 91150689 missense G T Sanger sequencing 0.0862 neutral
AutG1106CHD2 15 93518170 missense A G Sanger sequencing 0.9766 deleterious
AutG1106CHD2 15 93524620 missense G A Sanger sequencing 0.8988 deleterious
AutG1106CHD2 15 93536154 missense G A Sanger sequencing 0.7143 deleterious
AutG170691ADAMTS17 15 100636667 synonymous G A Sanger sequencing
AutG146330FBXL16 16 745595 missense T C Sanger sequencing 0.1255 neutral
AutG6123RPL3L 16 1997014 synonymous G A Sanger sequencing
AutG4913NTHL1 16 2094778 synonymous C T Sanger sequencing
AutG5310PKD1 16 2152577 synonymous C T Sanger sequencing
AutG84231TRAF7 16 2226080 missense C T Sanger sequencing 0.6017 deleterious
AutG57524CASKIN1 16 2235199 synonymous A C Sanger sequencing
AutG23524SRRM2 16 2806450 missense C T Sanger sequencing 0.9275 deleterious
AutG23524SRRM2 16 2813308 frameshift CAAAG C Sanger sequencing
AutG23524SRRM2 16 2815676 missense C A Sanger sequencing 0.2281 neutral
AutG23524SRRM2 16 2817038 missense C G Sanger sequencing 0.9167 deleterious
AutG10942PRSS21 16 2871093 missense G A Sanger sequencing 0.0049 neutral
AutG7023TFAP4 16 4312614 missense G A Sanger sequencing 0.984 deleterious
AutG23295MGRN1 16 4702029 frameshift CAA C Sanger sequencing
AutG29855UBN1 16 4925419 missense C T Sanger sequencing 0.7467 deleterious
AutG5493PPL 16 4945323 missense C T Sanger sequencing 0.9582 deleterious
AutG7874USP7 16 9002226 missense T C Sanger sequencing 0.4245 neutral
AutG55313CPPED1 16 12875152 missense T G Sanger sequencing 0.716 deleterious
AutG57496MKL2 16 14334157 missense C T Sanger sequencing 0.1611 neutral
AutG5073PARN 16 14723490 missense C T Sanger sequencing 0.6256 deleterious
AutG9665KIAA0430 16 15719503 missense C A Sanger sequencing 0.2252 neutral
AutG4629MYH11 16 15844149 missense G A Sanger sequencing 0.6527 deleterious
AutG64131XYLT1 16 17228330 missense C T Sanger sequencing 0.9279 deleterious
AutG79905TMC7 16 19020639 synonymous C T Sanger sequencing
AutG51573GDE1 16 19522205 missense G C Sanger sequencing 0.3857 neutral
AutG55567DNAH3 16 20994072 synonymous A G Sanger sequencing
AutG6340SCNN1G 16 23224460 missense G A Sanger sequencing 0.2753 deleterious
AutG10595ERN2 16 23718354 missense C T Sanger sequencing 0.7685 deleterious
AutG27327TNRC6A 16 24835108 missense G T Sanger sequencing 0.998 deleterious
AutG2975GTF3C1 16 27517395 missense G T Sanger sequencing 0.8409 deleterious
AutG246778IL27 16 28510980 nonsense G A Sanger sequencing
AutG84901NFATC2IP 16 28967316 missense C A Sanger sequencing 0.2086 neutral
AutG84901NFATC2IP 16 28970388 synonymous G A Sanger sequencing
AutG5595MAPK3 16 30128162 missense G A Sanger sequencing 0.0055 neutral
AutG5595MAPK3 16 30128549 missense C T Sanger sequencing 0.9868 deleterious
AutG3683ITGAL 16 30529146 missense G A Sanger sequencing 0.3204 neutral
AutG10847SRCAP 16 30747939 missense G C Sanger sequencing 0.2072 neutral
AC135050.1 16 31072989 synonymous C T Sanger sequencing
AutG55737VPS35 16 46716048 missense T C Sanger sequencing 0.4633 deleterious
AutG91807MYLK3 16 46766161 missense C A Sanger sequencing 0.0428 neutral
AutG94160ABCC12 16 48174756 missense T C Sanger sequencing 0.0738 neutral
AutG94160ABCC12 16 48175156 synonymous C T Sanger sequencing
AutG23090ZNF423 16 49670329 missense G A Sanger sequencing 0.2223 neutral
AutG23090ZNF423 16 49671585 missense T C Sanger sequencing 0.6674 deleterious
AutG64282PAPD5 16 50263085 missense G A Sanger sequencing 0.1684 neutral
AutG5934RBL2 16 53487404 synonymous C T Sanger sequencing
AutG6559SLC12A3 16 56920988 missense G A Sanger sequencing 0.1077 neutral
AutG65009NDRG4 16 58538527 missense G A Sanger sequencing 0.9998 deleterious
AutG65009NDRG4 16 58540303 missense G A Sanger sequencing 0.2194 neutral
AutG1783DYNC1LI2 16 66769989 missense C A Sanger sequencing 0.9772 deleterious
AutG80262C16orf70 16 67168109 synonymous C T Sanger sequencing
AutG29800ZDHHC1 16 67432775 synonymous G A Sanger sequencing
AutG146206RLTPR 16 67685167 synonymous C T Sanger sequencing
AutG3931LCAT 16 67973973 missense C G Sanger sequencing 0.8504 deleterious
AutG64174DPEP2 16 68026861 synonymous G A Sanger sequencing
AutG3038HAS3 16 69148665 synonymous G A Sanger sequencing
AutG80777CYB5B 16 69496335 missense G A Sanger sequencing 0.1171 neutral
AutG91862MARVELD3 16 71668525 missense C G Sanger sequencing 0.099 neutral
AutG164AP1G1 16 71780536 missense C T Sanger sequencing 0.9968 deleterious
AutG55565ZNF821 16 71894143 synonymous C T Sanger sequencing
AutG463ZFHX3 16 72991675 synonymous G A Sanger sequencing
AutG51741WWOX 16 79245541 missense G A Sanger sequencing 0.4867 neutral
AutG146167SLC38A8 16 84070481 missense C A Sanger sequencing 0.9665 deleterious
AutG57707KIAA1609 16 84514140 nonsense G A Sanger sequencing
AutG55625ZDHHC7 16 85010808 missense T C Sanger sequencing 0.0044 neutral
AutG23199KIAA0182 16 85682214 missense T C Sanger sequencing
AutG763CA5A 16 87935559 missense G C Sanger sequencing 0.5125 deleterious
AutG161882ZFPM1 16 88555458 synonymous G A Sanger sequencing
AutG161882ZFPM1 16 88594582 synonymous C T Sanger sequencing
AutG161882ZFPM1 16 88594633 synonymous C T Sanger sequencing
AutG27189IL17C 16 88705646 synonymous C T Sanger sequencing
AutG197320ZNF778 16 89293712 missense G C Sanger sequencing 0.0421 neutral
AutG5119CHMP1A 16 89715851 missense G A Sanger sequencing 0.2603 neutral
AutG2175FANCA 16 89845355 missense C G Sanger sequencing 0.9802 deleterious
AutG4641MYO1C 17 1380804 missense G C Sanger sequencing 0.4755 neutral
AutG124997WDR81 17 1636104 missense G A Sanger sequencing 0.6893 deleterious
AutG124997WDR81 17 1636946 missense G A Sanger sequencing 0.0494 neutral
AutG124997WDR81 17 1637187 missense C G Sanger sequencing 0.9679 deleterious
AutG146760RTN4RL1 17 1840824 missense C T Sanger sequencing 0.6771 deleterious
METTL16 17 2371131 missense A G Sanger sequencing 0.9988 deleterious
AutG23108RAP1GAP2 17 2901580 synonymous G A Sanger sequencing
AutG5023P2RX1 17 3801158 missense C T Sanger sequencing 0.0827 neutral
AutG26001RNF167 17 4847898 missense A G Sanger sequencing 0.9433 deleterious
AutG9135RABEP1 17 5276712 missense A G Sanger sequencing 0.3159 neutral
AutG9135RABEP1 17 5284689 synonymous C T Sanger sequencing
AutG22861NLRP1 17 5456733 missense C T Sanger sequencing 0.0065 neutral
AutG22861NLRP1 17 5486032 missense C T Sanger sequencing 0.0452 neutral
AutG57555NLGN2 17 7319134 missense C T Sanger sequencing 0.9841 deleterious
SLC35G6 17 7416351 missense T A Sanger sequencing
AutG146754DNAH2 17 7660448 synonymous G A Sanger sequencing
AutG146754DNAH2 17 7671509 missense A T Sanger sequencing 0.0061 neutral
AutG23135KDM6B 17 7755277 missense G A Sanger sequencing 0.4567 neutral
AutG1107CHD3 17 7811315 synonymous T C Sanger sequencing
AutG242ALOX12B 17 7983087 synonymous C T Sanger sequencing
AutG5187PER1 17 8044457 missense T C Sanger sequencing 0.4499 neutral
AutG6844VAMP2 17 8065581 missense C A Sanger sequencing 0.5468 deleterious
CTC1 17 8151329 missense G C Sanger sequencing 0.8918 deleterious
AutG5198PFAS 17 8166940 missense A C Sanger sequencing 0.4875 neutral
AutG9912ARHGAP44 17 12887971 nonsense C A Sanger sequencing
AutG64518TEKT3 17 15207450 missense C G Sanger sequencing 0.7957 deleterious
AutG64518TEKT3 17 15212030 missense G A Sanger sequencing 0.9836 deleterious
AutG10743RAI1 17 17697926 missense C T Sanger sequencing 0.8161 deleterious
AutG10743RAI1 17 17698609 missense G A Sanger sequencing 0.4749 deleterious
AutG83450LRRC48 17 17880957 synonymous T C Sanger sequencing
AutG51168MYO15A 17 18047280 missense A G Sanger sequencing 0.8078 deleterious
AutG2314FLII 17 18151881 missense G C Sanger sequencing 0.0393 neutral
AutG2314FLII 17 18157933 synonymous G A Sanger sequencing
AutG254272TBC1D28 17 18541660 missense T A Sanger sequencing 0.3298 neutral
AutG22905EPN2 17 19213285 missense C A Sanger sequencing 0.9318 deleterious
AutG23098SARM1 17 26722930 missense G A Sanger sequencing 0.0189 neutral
AutG23098SARM1 17 26722931 missense T A Sanger sequencing 0.0075 neutral
AutG23098SARM1 17 26722933 missense A T Sanger sequencing 0.0189 neutral
AutG57551TAOK1 17 27802725 CODON_DELETION AAAG A Sanger sequencing
AutG124930ANKRD13B 17 27938657 missense A T Sanger sequencing 0.7033 deleterious
AutG6532SLC6A4 17 28530282 missense T C Sanger sequencing 0.037 neutral
AutG6532SLC6A4 17 28544289 synonymous C G Sanger sequencing
AutG55813UTP6 17 30211462 nonsense G A Sanger sequencing
AutG4642MYO1D 17 31039179 missense G T Sanger sequencing 0.9238 deleterious
AutG10693CCT6B 17 33269892 synonymous G A Sanger sequencing
RAD51D 17 33446571 missense C G Sanger sequencing 0.6082 deleterious
AutG146862UNC45B 17 33481726 missense C T Sanger sequencing 0.6973 deleterious
AutG146862UNC45B 17 33495251 synonymous C T Sanger sequencing
AutG79893GGNBP2 17 34943466 nonsense C T Sanger sequencing
AutG8396PIP4K2B 17 36955630 synonymous G C Sanger sequencing
AutG10948STARD3 17 37815024 synonymous C T Sanger sequencing
AutG5709PSMD3 17 38146011 missense C T Sanger sequencing 0.9341 deleterious
AutG6605SMARCE1 17 38801873 splice T C Sanger sequencing
AutG147183KRT25 17 38910124 missense C A Sanger sequencing 0.4076 neutral
AutG83900KRTAP9-3 17 39389177 missense A G Sanger sequencing 0.0902 neutral
AutG3885KRT34 17 39535950 missense G A Sanger sequencing 0.8406 deleterious
AutG3885KRT34 17 39538425 missense C T Sanger sequencing 0.5137 deleterious
AutG9001HAP1 17 39881349 synonymous T C Sanger sequencing
AutG3728JUP 17 39919351 frameshift G GGCGCAGA Sanger sequencing
AutG47ACLY 17 40025344 missense A G Sanger sequencing 0.9647 deleterious
AutG28511NKIRAS2 17 40175841 missense C G Sanger sequencing 0.9995 deleterious
AutG2648KAT2A 17 40269445 missense C T Sanger sequencing 0.981 deleterious
AutG94086HSPB9 17 40275291 synonymous A G Sanger sequencing
AutG6776STAT5A 17 40441466 missense G T Sanger sequencing 0.9908 deleterious
AutG7283TUBG1 17 40765890 missense C G Sanger sequencing 0.969 deleterious
AutG2118ETV4 17 41610239 missense A G Sanger sequencing 0.1069 neutral
AutG1845DUSP3 17 41847180 missense G A Sanger sequencing 0.8976 deleterious
AutG92591ASB16 17 42255667 missense G A Sanger sequencing 0.2825 neutral
AutG6521SLC4A1 17 42340237 START_GAINED C T Sanger sequencing
AutG2896GRN 17 42428483 missense A G Sanger sequencing 0.0852 neutral
AutG2896GRN 17 42429110 missense G A Sanger sequencing 0.0061 neutral
AutG80174DBF4B 17 42828130 nonsense C T Sanger sequencing
AutG146909KIF18B 17 43006344 synonymous G A Sanger sequencing
AutG124783C17orf46 17 43333387 synonymous C T Sanger sequencing
AutG124783C17orf46 17 43333388 missense A G Sanger sequencing
AutG7484WNT9B 17 44950046 missense G A Sanger sequencing 0.6554 deleterious
AutG124989C17orf57 17 45369819 synonymous C T Sanger sequencing
AutG90507SCRN2 17 45915213 synonymous C T Sanger sequencing
AutG90507SCRN2 17 45915703 missense T C Sanger sequencing 0.0723 neutral
AutG3217HOXB7 17 46685259 missense C A Sanger sequencing 0.532 deleterious
AutG1748DLX4 17 48050479 missense G C Sanger sequencing 0.3055 neutral
AutG56934CA10 17 49713356 synonymous G A Sanger sequencing
AutG8165AKAP1 17 55189193 missense G A Sanger sequencing 0.8067 deleterious
AutG7716VEZF1 17 56060162 missense T G Sanger sequencing 0.9898 deleterious
AutG4353MPO 17 56353059 missense G T Sanger sequencing 0.9528 deleterious
AutG4591TRIM37 17 57105783 missense T C Sanger sequencing 0.2991 neutral
AutG4591TRIM37 17 57119260 splice C T Sanger sequencing
AutG1213CLTC 17 57758401 synonymous T C Sanger sequencing
AutG6198RPS6KB1 17 58022775 synonymous A G Sanger sequencing
AutG9496TBX4 17 59544933 missense C T Sanger sequencing 0.9874 deleterious
AutG9496TBX4 17 59560616 synonymous C T Sanger sequencing
AutG6329SCN4A 17 62018938 synonymous G A Sanger sequencing
AutG55852TEX2 17 62290197 missense C T Sanger sequencing 0.4111 neutral
AutG1655DDX5 17 62499353 missense C G Sanger sequencing 0.6751 deleterious
AutG5578PRKCA 17 64683232 missense G A Sanger sequencing 0.1093 neutral
AutG5608MAP2K6 17 67513027 missense A T Sanger sequencing 0.9491 deleterious
AutG5608MAP2K6 17 67513031 missense C T Sanger sequencing 0.5143 deleterious
AutG9382COG1 17 71192877 missense G C Sanger sequencing 0.1374 neutral
AutG124602KIF19 17 72346879 synonymous A G Sanger sequencing
AutG347741OTOP3 17 72943142 missense G A Sanger sequencing 0.0331 neutral
AutG283987C17orf28 17 72956159 missense C A Sanger sequencing
AutG9772KIAA0195 17 73487233 missense C T Sanger sequencing
AutG3993LLGL2 17 73539565 synonymous C T Sanger sequencing
AutG3993LLGL2 17 73568032 missense G A Sanger sequencing 0.9951 deleterious
AutG2125EVPL 17 74013881 missense C T Sanger sequencing 0.655 deleterious
AutG6397SEC14L1 17 75201419 missense G A Sanger sequencing 0.4015 neutral
AutG8632DNAH17 17 76521156 nonsense T A Sanger sequencing
AutG3959LGALS3BP 17 76967677 missense T C Sanger sequencing 0.3006 neutral
AutG125058TBC1D16 17 77922739 synonymous G A Sanger sequencing
AutG55036CCDC40 17 78013636 missense G T Sanger sequencing 0.1602 neutral
AutG10458BAIAP2 17 79060248 synonymous G A Sanger sequencing
AutG79058ASPSCR1 17 79954601 missense A T Sanger sequencing 0.4791 deleterious
AutG2194FASN 17 80046097 missense T C Sanger sequencing 0.5036 deleterious
AutG3607FOXK2 17 80543909 missense C T Sanger sequencing 0.9751 deleterious
AutG3607FOXK2 17 80544976 synonymous G A Sanger sequencing
AutG23347SMCHD1 18 2666192 missense A G Sanger sequencing 0.2896 neutral
AutG23347SMCHD1 18 2743776 missense A G Sanger sequencing 0.0848 neutral
AutG284217LAMA1 18 7032103 missense C T Sanger sequencing 0.0657 neutral
AutG5797PTPRM 18 8244097 missense G A Sanger sequencing 0.9768 deleterious
AutG5797PTPRM 18 8376088 synonymous T C Sanger sequencing
CCDC165 18 8783786 missense G A Sanger sequencing
CCDC165 18 8784008 missense C T Sanger sequencing
AutG10928RALBP1 18 9533755 synonymous C T Sanger sequencing
AutG8731RNMT 18 13746286 missense A G Sanger sequencing 0.2884 neutral
AutG114799ESCO1 18 19154007 synonymous A G Sanger sequencing
AutG1829DSG2 18 29099844 missense G A Sanger sequencing 0.4636 deleterious
AutG64762FAM59A 18 29867104 nonsense G A Sanger sequencing
AutG57565KLHL14 18 30349680 missense T C Sanger sequencing 0.9533 deleterious
AutG57565KLHL14 18 30349686 missense C A Sanger sequencing 0.9914 deleterious
AutG80816ASXL3 18 31322918 nonsense C T Sanger sequencing
AutG80816ASXL3 18 31323981 frameshift C CT Sanger sequencing
AutG26040SETBP1 18 42531877 missense G A Sanger sequencing 0.9873 deleterious
AutG4645MYO5B 18 47506898 synonymous G A Sanger sequencing
AutG5596MAPK4 18 48190687 missense C T Sanger sequencing 0.0278 neutral
AutG80323CCDC68 18 52585148 missense G A Sanger sequencing 0.5844 deleterious
AutG6925TCF4 18 52895538 frameshift AC A Sanger sequencing
AutG5205ATP8B1 18 55371870 missense C T Sanger sequencing 0.209 neutral
AutG3004GZMM 19 548659 missense C G Sanger sequencing 0.8659 deleterious
AutG6929TCF3 19 1619177 frameshift G GT Sanger sequencing
AutG255193C19orf34 19 1953406 missense C T Sanger sequencing
AutG255193C19orf34 19 1953503 missense A G Sanger sequencing
AutG55643BTBD2 19 1986556 synonymous G A Sanger sequencing
AutG126306JSRP1 19 2252771 missense G A Sanger sequencing 0.3356 neutral
AutG4616GADD45B 19 2477173 missense T C Sanger sequencing 0.9827 deleterious
AutG126321C19orf28 19 3547469 missense G A Sanger sequencing
AutG23217ZFR2 19 3834874 missense G A Sanger sequencing 0.0304 neutral
AutG27231ITGB1BP3 19 3938710 synonymous G A Sanger sequencing
AutG1938EEF2 19 3980675 missense T C Sanger sequencing 0.7994 deleterious
AutG79187FSD1 19 4318470 synonymous G A Sanger sequencing
AutG55620STAP2 19 4334006 synonymous G A Sanger sequencing
AutG729359PLIN4 19 4510966 synonymous G A Sanger sequencing
AutG729359PLIN4 19 4512088 synonymous G A Sanger sequencing
AutG23030KDM4B 19 5110672 missense G A Sanger sequencing 0.4435 deleterious
AutG23030KDM4B 19 5111518 synonymous C T Sanger sequencing
AutG23030KDM4B 19 5135437 nonsense C T Sanger sequencing
AutG9361LONP1 19 5707116 missense C A Sanger sequencing 0.0266 neutral
AutG828CAPS 19 5914616 synonymous C T Sanger sequencing
AutG5990RFX2 19 6013032 missense C T Sanger sequencing 0.058 neutral
AutG5623PSPN 19 6375788 missense C T Sanger sequencing 0.1967 neutral
AutG718C3 19 6678390 missense G C Sanger sequencing 0.8364 deleterious
AutG79230ZNF557 19 7083553 missense C A Sanger sequencing 0.0002 neutral
AutG57662KIAA1543 19 7675609 synonymous C T Sanger sequencing
AutG84467FBN3 19 8176973 synonymous T C Sanger sequencing
AutG51293CD320 19 8367787 missense T C Sanger sequencing 0.017 neutral
AutG84106PRAM1 19 8555989 synonymous C T Sanger sequencing
AutG4542MYO1F 19 8618092 synonymous C T Sanger sequencing
AutG147741ZNF560 19 9577658 synonymous G A Sanger sequencing
AutG55337C19orf66 19 10202009 synonymous G A Sanger sequencing
AutG56342PPAN 19 10220615 missense C T Sanger sequencing 0.1914 neutral
AutG5032P2RY11 19 10224733 synonymous C T Sanger sequencing
AutG51073MRPL4 19 10363234 synonymous G A Sanger sequencing
AutG81890QTRT1 19 10812917 synonymous C T Sanger sequencing
AutG6597SMARCA4 19 11096052 missense C T Sanger sequencing 0.1163 neutral
AutG6597SMARCA4 19 11097060 missense T C Sanger sequencing 0.5145 deleterious
AutG25959KANK2 19 11303859 synonymous C T Sanger sequencing
AC024575.1 19 11474442 synonymous C T Sanger sequencing
AutG1264CNN1 19 11658697 missense A G Sanger sequencing 0.0176 neutral
AutG126068ZNF441 19 11890900 missense G C Sanger sequencing 0.0114 neutral
AutG10224ZNF443 19 12542197 synonymous A C Sanger sequencing
AutG30000TNPO2 19 12816177 synonymous G A Sanger sequencing
AutG55621TRMT1 19 13226581 synonymous G T Sanger sequencing
AutG22859LPHN1 19 14271102 missense C G Sanger sequencing
AutG22859LPHN1 19 14273591 missense T C Sanger sequencing
AutG4854NOTCH3 19 15276256 missense G A Sanger sequencing 0.9953 deleterious
AutG58525WIZ 19 15536443 synonymous C T Sanger sequencing
AutG4650MYO9B 19 17306176 missense C T Sanger sequencing 0.8391 deleterious
AutG4650MYO9B 19 17311567 frameshift C CG Sanger sequencing
AutG83483PLVAP 19 17463179 splice T G Sanger sequencing
AutG23025UNC13A 19 17743591 missense G T Sanger sequencing 0.2314 neutral
AutG10331B3GNT3 19 17918722 missense G T Sanger sequencing 0.1948 neutral
AutG6528SLC5A5 19 17983447 missense C T Sanger sequencing 0.9995 deleterious
AutG23031MAST3 19 18232563 missense C T Sanger sequencing 0.9554 deleterious
AutG5976UPF1 19 18958640 synonymous C G Sanger sequencing
AutG5976UPF1 19 18965942 missense G A Sanger sequencing 0.9763 deleterious
AutG5976UPF1 19 18976921 synonymous G A Sanger sequencing
AutG1463NCAN 19 19338832 missense C G Sanger sequencing 0.0066 neutral
AutG1463NCAN 19 19359533 missense T C Sanger sequencing 0.6974 deleterious
AutG57794SUGP1 19 19390056 synonymous G A Sanger sequencing
AutG23383MAU2 19 19460025 missense C T Sanger sequencing 0.8612 deleterious
AutG147991DPY19L3 19 32971365 missense G A Sanger sequencing 0.3217 neutral
AutG84079ANKRD27 19 33135343 missense A G Sanger sequencing 0.9771 deleterious
AutG933CD22 19 35837104 missense C T Sanger sequencing 0.0149 neutral
AutG2116ETV2 19 36133597 nonsense A T Sanger sequencing
AutG84911ZNF382 19 37101604 missense G T Sanger sequencing 0.0188 neutral
AutG374900ZNF568 19 37441275 missense T C Sanger sequencing 0.0001 neutral
AutG147923ZNF420 19 37618055 missense G T Sanger sequencing 0.056 neutral
AutG6261RYR1 19 38956904 missense G A Sanger sequencing 0.6498 deleterious
AutG147968CAPN12 19 39229252 missense C T Sanger sequencing 0.5439 neutral
AutG57622LRFN1 19 39805110 synonymous G A Sanger sequencing
AutG8857FCGBP 19 40363870 synonymous C T Sanger sequencing
AutG339327ZNF546 19 40520471 missense C T Sanger sequencing 0.007 neutral
AutG92799SHKBP1 19 41083341 synonymous C T Sanger sequencing
AutG112398EGLN2 19 41306892 missense C A Sanger sequencing 0.2944 neutral
AutG1553CYP2A13 19 41594888 missense G A Sanger sequencing 0.9042 deleterious
AutG558AXL 19 41759516 nonsense C T Sanger sequencing
AutG147719LYPD4 19 42343030 frameshift TC T Sanger sequencing
AutG973CD79A 19 42384953 missense G T Sanger sequencing 0.1988 neutral
AutG9138ARHGEF1 19 42410172 missense G A Sanger sequencing 0.0123 neutral
AutG478ATP1A3 19 42489176 missense A G Sanger sequencing 0.9848 deleterious
AutG2901GRIK5 19 42507510 missense T C Sanger sequencing 0.2698 neutral
AutG64763ZNF574 19 42583760 synonymous C T Sanger sequencing
AutG23474ETHE1 19 44015690 missense T C Sanger sequencing 0.9987 deleterious
AutG79177ZNF576 19 44103310 missense C T Sanger sequencing 0.2629 neutral
AutG7711ZNF155 19 44500603 missense C T Sanger sequencing
AutG7766ZNF223 19 44571385 synonymous C T Sanger sequencing
AutG353355ZNF233 19 44778797 missense T A Sanger sequencing 0.0071 neutral
AutG353355ZNF233 19 44778799 synonymous G A Sanger sequencing
AutG26974ZNF285 19 44832737 missense C T Sanger sequencing
AutG1760DMPK 19 46280586 missense C A Sanger sequencing 0.0806 neutral
AutG339344MYPOP 19 46394531 synonymous G T Sanger sequencing
AutG25865PRKD2 19 47207621 missense G A Sanger sequencing 0.1716 neutral
AutG29888STRN4 19 47242092 synonymous C G Sanger sequencing
AutG56917MEIS3 19 47920081 missense T C Sanger sequencing 0.3684 neutral
AutG64100ELSPBP1 19 48519183 missense G A Sanger sequencing 0.1511 neutral
AutG55260TMEM143 19 48866572 synonymous C T Sanger sequencing
AutG581BAX 19 49459467 synonymous C T Sanger sequencing
AutG81857MED25 19 50333455 missense C T Sanger sequencing 0.1022 neutral
AutG90321ZNF766 19 52793889 missense G A Sanger sequencing 0.0003 neutral
AutG126017ZNF813 19 53994750 missense A C Sanger sequencing 0.0007 neutral
AutG5582PRKCG 19 54395806 missense G T Sanger sequencing 0.5091 deleterious
AutG79143MBOAT7 19 54687558 synonymous C T Sanger sequencing
AutG11026LILRA3 19 54803750 missense G T Sanger sequencing 0.0391 neutral
AutG23547LILRA4 19 54844975 synonymous G A Sanger sequencing
AutG199713NLRP7 19 55452898 missense G T Sanger sequencing 0.5906 deleterious
AutG84446BRSK1 19 55820037 missense A G Sanger sequencing 0.8665 deleterious
AutG89887ZNF628 19 55995110 synonymous A G Sanger sequencing
AutG126206NLRP5 19 56539717 missense C G Sanger sequencing 0.0249 neutral
AutG27243CHMP2A 19 59063080 missense G C Sanger sequencing 0.1403 neutral
AutG284759SIRPB2 20 1459226 frameshift AC A Sanger sequencing
AutG83959SLC4A11 20 3218211 missense T C Sanger sequencing 0.0068 neutral
AutG25943C20orf194 20 3236780 frameshift TG T Sanger sequencing
AutG8455ATRN 20 3575148 synonymous G A Sanger sequencing
AutG6614SIGLEC1 20 3673614 missense G A Sanger sequencing 0.7159 deleterious
AutG6614SIGLEC1 20 3675396 missense G A Sanger sequencing 0.3256 neutral
AutG80025PANK2 20 3891360 missense A G Sanger sequencing 0.5761 deleterious
AutG5621PRNP 20 4680118 synonymous T C Sanger sequencing 0.0093 neutral
AutG55612FERMT1 20 6064737 missense G C Sanger sequencing 0.7337 deleterious
AutG63926ANKRD5 20 10019040 missense C G Sanger sequencing
AutG23767FLRT3 20 14306852 missense G A Sanger sequencing 0.7741 deleterious
AutG5126PCSK2 20 17462427 synonymous C T Sanger sequencing
AutG6238RRBP1 20 17602158 missense G A Sanger sequencing 0.1335 neutral
AutG57419SLC24A3 20 19701743 missense G A Sanger sequencing 0.9904 deleterious
AutG128822CST9 20 23584346 missense A G Sanger sequencing 0.3312 neutral
AutG22974TPX2 20 30366759 synonymous T C Sanger sequencing
AutG128853DUSP15 20 30450489 missense G A Sanger sequencing 0.8054 deleterious
AutG3055HCK 20 30689268 synonymous T C Sanger sequencing
AutG9777TM9SF4 20 30738473 missense T A Sanger sequencing 0.9985 deleterious
AutG171023ASXL1 20 31021466 missense C T Sanger sequencing 0.333 neutral
AutG22913RALY 20 32664866 missense G A Sanger sequencing 0.0016 neutral
AutG57644MYH7B 20 33578059 synonymous G A Sanger sequencing
AutG10137RBM12 20 34240767 synonymous C G Sanger sequencing
AutG57446NDRG3 20 35350135 missense C T Sanger sequencing 0.4418 neutral
AutG57148RALGAPB 20 37137843 frameshift CAT C Sanger sequencing
AutG57148RALGAPB 20 37186988 synonymous G A Sanger sequencing
AutG64900LPIN3 20 39977381 synonymous C A Sanger sequencing
AutG6431SRSF6 20 42089673 missense A T Sanger sequencing 0.2736 neutral
AutG51526C20orf111 20 42825855 frameshift TGA T Sanger sequencing
AutG3787KCNS1 20 43723695 missense C T Sanger sequencing 0.7426 deleterious
AutG6407SEMG2 20 43851703 missense G A Sanger sequencing 0.0287 neutral
AutG8785MATN4 20 43926652 synonymous G A Sanger sequencing
AutG90204ZSWIM1 20 44511799 missense G A Sanger sequencing 0.1524 neutral
AutG51006SLC35C2 20 44983771 missense G A Sanger sequencing 0.9369 deleterious
AutG140876FAM65C 20 49211992 frameshift TC T Sanger sequencing
AutG23394ADNP 20 49508382 frameshift CCTCA C Sanger sequencing
AutG23394ADNP 20 49510602 frameshift CTCGGGCAT C Sanger sequencing
AutG10079ATP9A 20 50221501 synonymous C A Sanger sequencing
AutG128553TSHZ2 20 51872052 synonymous C T Sanger sequencing
AutG6874TAF4 20 60578326 frameshift AG A Sanger sequencing
RP4-697K14.7 20 62198612 missense G A Sanger sequencing
AutG140685ZBTB46 20 62421745 synonymous G A Sanger sequencing
AutG24148PRPF6 20 62626801 missense C T Sanger sequencing 0.9876 deleterious
AutG24148PRPF6 20 62642793 synonymous C T Sanger sequencing
AutG6782HSPA13 21 15753820 nonsense G A Sanger sequencing
AutG64092SAMSN1 21 15893541 missense C T Sanger sequencing 0.7106 deleterious
AutG5651TMPRSS15 21 19642312 missense C T Sanger sequencing 0.0413 neutral
AutG2897GRIK1 21 30949318 missense G A Sanger sequencing 0.1137 neutral
MIS18A 21 33651218 synonymous G A Sanger sequencing
AutG56246MRAP 21 33671388 missense C T Sanger sequencing 0.0139 neutral
AutG9946CRYZL1 21 34963511 missense T C Sanger sequencing 0.1382 neutral
AutG6453ITSN1 21 35260537 missense T G Sanger sequencing 0.9507 deleterious
AutG23515MORC3 21 37711086 missense T G Sanger sequencing 0.4875 neutral
AutG1859DYRK1A 21 38877655 nonsense C T Sanger sequencing
AutG1826DSCAM 21 41648022 splice A C Sanger sequencing
AutG89766UMODL1 21 43547300 frameshift AC A Sanger sequencing
AutG53347UBASH3A 21 43833609 missense T G Sanger sequencing 0.0053 neutral
AutG7226TRPM2 21 45820197 missense G A Sanger sequencing 0.9582 deleterious
AutG386678KRTAP10-11 21 46066486 synonymous C T Sanger sequencing
AutG23181DIP2A 21 47976938 synonymous C T Sanger sequencing
AutG23784POTEH 22 16287579 frameshift A AG Sanger sequencing
AutG51816CECR1 22 17662817 missense C T Sanger sequencing 0.0054 neutral
AutG27443CECR2 22 18018792 nonsense T A Sanger sequencing
AutG7290HIRA 22 19341564 missense A G Sanger sequencing 0.0113 neutral
AutG5297PI4KA 22 21167781 synonymous G A Sanger sequencing
AutG9342SNAP29 22 21224680 missense T C Sanger sequencing 0.8785 deleterious
AutG164592CCDC116 22 21989210 synonymous C T Sanger sequencing
AutG140883ZNF280B 22 22842831 missense T C Sanger sequencing 0.157 neutral
AutG23532PRAME 22 22892470 missense T C Sanger sequencing 0.043 neutral
AutG23523CABIN1 22 24452747 missense C T Sanger sequencing 0.5125 deleterious
AutG23384SPECC1L 22 24761563 missense A G Sanger sequencing 0.3961 neutral
AutG440822PIWIL3 22 25123995 missense A G Sanger sequencing 0.2684 neutral
AutG84700MYO18B 22 26164470 missense C G Sanger sequencing 0.0709 neutral
AutG84700MYO18B 22 26224858 missense C T Sanger sequencing 0.3962 neutral
AutG57168ASPHD2 22 26838481 missense G C Sanger sequencing 0.8996 deleterious
AutG24144TFIP11 22 26902369 missense C T Sanger sequencing 0.3066 neutral
AutG2130EWSR1 22 29693821 synonymous A G Sanger sequencing
AutG162AP1B1 22 29736801 synonymous A T Sanger sequencing
AutG162AP1B1 22 29754784 synonymous G A Sanger sequencing
AutG5988RFPL1 22 29838013 missense C T Sanger sequencing 0.0108 neutral
AutG84164ASCC2 22 30185167 synonymous C A Sanger sequencing
AutG83874TBC1D10A 22 30691044 synonymous G A Sanger sequencing
AutG9514GAL3ST1 22 30951564 missense G C Sanger sequencing 0.9848 deleterious
AutG23762OSBP2 22 31284288 missense C T Sanger sequencing 0.0227 neutral
AutG4627MYH9 22 36690159 synonymous G A Sanger sequencing
AutG4627MYH9 22 36690219 synonymous C T Sanger sequencing
AutG4627MYH9 22 36692966 synonymous G A Sanger sequencing
AutG1439CSF2RB 22 37332616 missense C T Sanger sequencing 0.2874 neutral
AutG27128CYTH4 22 37693679 synonymous C T Sanger sequencing
AutG29775CARD10 22 37903943 missense C G Sanger sequencing 0.6429 deleterious
AutG1454CSNK1E 22 38694937 missense C T Sanger sequencing 0.9993 deleterious
AutG1454CSNK1E 22 38696888 missense T A Sanger sequencing 0.8718 deleterious
AutG25777SUN2 22 39134262 synonymous G A Sanger sequencing
AutG8911CACNA1I 22 40069085 missense G A Sanger sequencing 0.9046 deleterious
AutG8911CACNA1I 22 40075841 missense G A Sanger sequencing 0.0829 neutral
AutG6767ST13 22 41223218 missense C T Sanger sequencing 0.0204 neutral
AutG2033EP300 22 41564872 splice G GT Sanger sequencing
AutG10343PKDREJ 22 46652879 missense T C Sanger sequencing 0.6196 deleterious
AutG51512GTSE1 22 46704222 synonymous T C Sanger sequencing
AutG9620CELSR1 22 46795678 missense T G Sanger sequencing 0.4518 deleterious
AutG23151GRAMD4 22 47033763 synonymous C T Sanger sequencing
AutG6305SBF1 22 50898487 missense C T Sanger sequencing 0.9831 deleterious
AutG6305SBF1 22 50899099 missense C T Sanger sequencing 0.0578 neutral
AutG1375CPT1B 22 51015426 missense G A Sanger sequencing 0.2495 neutral
AutG85358SHANK3 22 51137146 nonsense G A Sanger sequencing

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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