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Varbook Variant Analysis Report

Table of Contents

Broad neurological disorders

Fetal Brain

Source: varbook_gen/Broad neurological disorders/Fetal Brain/00-intro.md

Heatmap: Fetal Brain

Heatmap

Source: varbook_gen/Broad neurological disorders/Fetal Brain/01-heatmap.md
01-heatmap.png
Source: varbook_gen/Broad neurological disorders/Fetal Brain/01-heatmap.png
01-heatmap.svg
Source: varbook_gen/Broad neurological disorders/Fetal Brain/01-heatmap.svg

microglia-specific cluster (#3)

Variants Table

This table summarizes key annotations for all variants in this report. Click the + icon to expand and view the detailed analyses for each variant.

Relevance to HPOs Confidence Summary Comments Variant ID # Patients HPO Terms (Names) Protein Coding (±100kb) miRNA (±100kb) lncRNA (±100kb) Closest Gene #1 Gene #1 Distance (bp) Closest Gene #2 Gene #2 Distance (bp) Closest Gene #3 Gene #3 Distance (bp) Closest Gene #4 Gene #4 Distance (bp) Closest Gene #5 Gene #5 Distance (bp) Closest Gene #6 Gene #6 Distance (bp) Nearest miRNA #1 miRNA #1 Distance (bp) Nearest miRNA #2 miRNA #2 Distance (bp) Nearest lncRNA #1 lncRNA #1 Distance (bp) Nearest lncRNA #2 lncRNA #2 Distance (bp) HPO: Blood HPO: Head/Neck HPO: Limbs HPO: Metabolism HPO: Breast HPO: Cardiovascular HPO: Digestive HPO: Ear HPO: Endocrine HPO: Eye HPO: Genitourinary HPO: Immune HPO: Integument HPO: Nervous HPO: Respiratory HPO: Thoracic HPO: Voice
chr10:3277486:T:C 1.0000 Abnormality of the nervous system - - ENSG00000288566;ENSG00000227338;ENSG00000287428;ENSG00000304184;ENSG00000302083;ENSG00000236968;ENSG00000294691;ENSG00000302051;LINC02668;ENSG00000294649;ENSG00000286610 PITRM1 -104645 PFKP -139768 KLF6 498510 AKR1E2 1509143 ADARB2 -1539961 AKR1C1 1685767 MIR6078 713674 MIR6072 -1201397 LINC02668 0 ENSG00000227338 -10270 False False False False False False False False False False False False False True False False False
chr10:5925478:C:T 1.0000 Abnormality of the nervous system;Abnormality of the integument;Abnormality of the cardiovascular system;Abnormality of the respiratory system ANKRD16;IL15RA;GDI2;FBH1;IL2RA - ENSG00000232807;ENSG00000300557 FBH1 0 IL15RA 18161 ANKRD16 -35572 GDI2 -83346 IL2RA 85211 TASOR2 -161699 MIR3155A 226718 MIR3155B 226729 ENSG00000232807 6913 ENSG00000300557 34725 False False False False False True False False False False False False True True True False False
chr10:9770563:C:T 1.0000 Abnormality of the genitourinary system;Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the endocrine system;Abnormality of the cardiovascular system;Abnormality of metabolism/homeostasis;Abnormality of the respiratory system;Abnormality of the digestive system - - ENSG00000303638;LINC02663 CELF2 1027834 USP6NL 1689947 GATA3 -1695365 TAF3 -1753932 ATP5F1C -1962748 ECHDC3 1971803 MIR548AK 2360197 MIR4480 2808190 LINC02663 0 ENSG00000303638 -81723 False True False True False True True False True True True False False True True False False
chr10:52171043:A:G 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the integument;Abnormality of the respiratory system PRKG1 - PRKG1-AS1 PRKG1 0 DKK1 143238 CSTF2T -471448 MBL2 594337 A1CF -1285368 ASAH2B -1354548 MIR605 -871388 MIR548F1 2436831 PRKG1-AS1 0 ENSG00000289527 -131782 False True False False False False False False False True False False True True True False False
chr10:85075568:A:T 1.0000 - - - ENSG00000308194;ENSG00000307933 GRID1 523984 CCSER2 -557047 RGR -815608 LRIT1 -834022 LRIT2 -850024 CDHR1 -855947 MIR346 1189126 MIR4678 2428313 ENSG00000307933 43618 ENSG00000308194 -88567 False False False False False False False False False False False False False False False False False
chr10:114282405:A:T 1.0000 Abnormality of the nervous system;Abnormality of the immune system;Abnormality of the digestive system TDRD1;VWA2;AFAP1L2 - ENSG00000275024;ENSG00000299554 VWA2 0 AFAP1L2 12419 TDRD1 -49739 CCDC186 -108173 ABLIM1 148705 ADRB1 -235501 MIR2110 -108226 MIR4483 -504351 ENSG00000275024 -1147 ENSG00000299554 22202 False False False False False False True False False False False True False True False False False
chr10:117269970:A:C 1.0000 Abnormality of head or neck;Abnormality of the nervous system;Abnormality of the integument;Abnormality of the respiratory system;Abnormality of the immune system;Abnormality of the digestive system KCNK18;SLC18A2;PDZD8 - ENSG00000296228;ENSG00000298523;SLC18A2-AS1;ENSG00000277879 SLC18A2 0 PDZD8 7304 KCNK18 -59671 VAX1 -131669 SHTN1 -143384 EMX2 272475 MIR3663 -102196 MIR4681 2108002 ENSG00000277879 -1302 SLC18A2-AS1 -27938 False True False False False False True False False False False True True True True False False
chr10:119554482:G:A 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the cardiovascular system;Abnormality of the respiratory system TIAL1;GRK5;BAG3;RGS10 - ENSG00000307244;ENSG00000299307 RGS10 -11763 TIAL1 17320 GRK5 -94737 BAG3 96898 INPP5F 171560 MCMBP 274922 MIR4681 -176439 MIR4682 404031 ENSG00000299307 41259 ENSG00000307244 -93176 False True False False False True False False False True False False False True True False False
chr11:3194103:G:A 1.0000 Abnormality of the nervous system;Abnormality of the integument;Abnormality of metabolism/homeostasis;Abnormality of limbs MRGPRG;MRGPRE;OSBPL5 - ENSG00000295548;ENSG00000295566;ENSG00000234791;ENSG00000306642;MRGPRG-AS1;ENSG00000224513;ENSG00000306997 MRGPRG 23841 OSBPL5 -27364 MRGPRE 30927 CARS1 -136490 ZNF195 145158 NAP1L4 -201726 MIR4687 661959 MIR4686 -1020965 ENSG00000234791 -4120 ENSG00000306642 6131 False False True True False False False False False False False False True True False False False
chr11:10901709:C:CTTTTTTT 1.0000 Abnormality of head or neck;Abnormality of the nervous system EIF4G2;ZBED5 - ENSG00000308988;ENSG00000308971;ENSG00000246308;ENSG00000250041;ENSG00000308940;ENSG00000308959;ZBED5-AS1 ZBED5 -42913 EIF4G2 -92769 CTR9 -100084 IRAG1 -207721 LYVE1 -290020 RNF141 -360479 MIR4485 -393383 MIR4299 754942 ZBED5-AS1 0 ENSG00000250041 -1306 False True False False False False False False False False False False False True False False False
chr11:16671199:G:A 1.0000 Abnormality of head or neck;Abnormality of the ear;Abnormality of the nervous system;Abnormality of the digestive system SOX6;C11orf58 - ENSG00000299978 SOX6 0 PLEKHA7 106098 RPS13 403189 PIK3C2A 406531 NUCB2 536954 NCR3LG1 680601 MIR6073 -701578 MIR3159 1716588 ENSG00000299978 -81797 ENSG00000290957 342476 False True False False False False True True False False False False False True False False False
chr11:17169774:A:G 1.0000 Abnormality of blood and blood-forming tissues RPS13;PIK3C2A;NUCB2 - ENSG00000306669 PIK3C2A 0 NUCB2 38379 RPS13 -92059 PLEKHA7 -155359 NCR3LG1 182026 KCNJ11 195398 MIR6073 -1200153 MIR3159 1218013 ENSG00000306669 46130 ENSG00000290957 -116423 True False False False False False False False False False False False False False False False False
chr11:34712245:T:C 1.0000 Abnormality of the nervous system;Abnormality of the respiratory system;Abnormality of the digestive system EHF - ENSG00000309708;ENSG00000309726;ENSG00000309692 EHF -48957 APIP 140849 ELF5 -187052 PDHX 203584 CAT -240185 ABTB2 -354235 MIR1343 229592 MIR3973 1297853 ENSG00000309692 0 ENSG00000309708 -19405 False False False False False False True False False False False False False True True False False
chr11:67254261:C:T 1.0000 Abnormality of head or neck;Abnormality of the nervous system ANKRD13D;GRK2;SSH3;POLD4;KDM2A;RAD9A;ENSG00000256514 - ENSG00000293231;ENSG00000303303;ENSG00000287851;ENSG00000274251;ENSG00000287934 KDM2A 0 GRK2 12212 ANKRD13D 35039 SSH3 49217 RAD9A 63610 POLD4 96511 MIR6860 -208553 MIR6752 235984 ENSG00000287934 0 ENSG00000303303 13456 False True False False False False False False False False False False False True False False False
chr11:68411656:G:A 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the ear;Abnormality of the nervous system;Abnormality of the breast;Abnormality of the integument LRP5;PPP6R3 - ENSG00000295105;ENSG00000300058 LRP5 0 PPP6R3 49075 C11orf24 -139655 KMT5B -197804 GAL 272123 CHKA -290212 MIR6753 -366699 MIR4691 -377675 ENSG00000295105 48478 ENSG00000300058 -73451 False True False False True False False True False True False False True True False False False
chr11:69667400:A:C 1.0000 Abnormality of head or neck;Abnormality of the nervous system;Abnormality of the respiratory system FGF19;CCND1;LTO1 - ENSG00000301870;ENSG00000298300;ENSG00000298311;ENSG00000305476;ENSG00000305456 LTO1 0 CCND1 -12926 FGF19 30838 FGF4 103622 FGF3 142568 ANO1 318507 MIR3164 -584142 MIR548K 616555 ENSG00000298311 -26417 ENSG00000298300 -27105 False True False False False False False False False False False False False True True False False
chr11:82194643:A:G 1.0000 Abnormality of head or neck;Abnormality of the nervous system;Abnormality of the respiratory system - - MIR4300HG FAM181B 535297 PRCP 628293 DDIAS 705332 RAB30 778490 PCF11 962345 ANKRD42 999069 MIR4300 -303807 MIR5579 -2772417 MIR4300HG 0 ENSG00000306283 -163663 False True False False False False False False False False False False False True True False False
chr11:104143216:C:T 1.0000 Abnormality of the nervous system PDGFD - ENSG00000300441;ENSG00000304737 PDGFD 0 DDI1 -104020 DYNC2H1 -663353 CASP12 742502 CASP4 799650 CASP5 851019 ENSG00000280773 109375 MIR4693 -293236 ENSG00000300441 -50217 ENSG00000304737 50689 False False False False False False False False False False False False False True False False False
chr12:6775723:G:A 1.0000 Abnormality of the genitourinary system;Abnormality of blood and blood-forming tissues;Abnormality of metabolism/homeostasis;Abnormality of the immune system;Abnormality of the digestive system PIANP;COPS7A;LAG3;GPR162;GNB3;TPI1;MLF2;PTMS;P3H3;CDCA3;USP5;SPSB2;LRRC23;ZNF384;CD4 - ENSG00000289303;ENSG00000300994;ENSG00000288814;ENSG00000270068;ENSG00000269892;ENSG00000300918;ENSG00000297457;ENSG00000293161 LAG3 0 PTMS -4771 MLF2 -8248 CD4 11135 COPS7A -43848 GPR162 45901 MIR200C 187976 MIR141 188374 ENSG00000297457 4352 ENSG00000269892 -32082 True False False True False False True False False False True True False False False False False
chr12:6846844:C:T 1.0000 Abnormality of the nervous system;Abnormality of the digestive system;Abnormality of limbs LAG3;GPR162;GNB3;TPI1;C12orf57;MLF2;PTMS;P3H3;CDCA3;USP5;SPSB2;LRRC23;ENO2;ATN1;CD4;PTPN6 - DSTNP2;ENSG00000275703;ENSG00000293728;ENSG00000272173;ENSG00000297457;ENSG00000293161 GNB3 0 USP5 5304 P3H3 -6997 GPR162 -16872 TPI1 20275 SPSB2 24091 MIR200C 116855 MIR141 117253 ENSG00000293161 26545 DSTNP2 37838 False False True False False False True False False False False False False True False False False
chr12:32951798:A:T 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the integument;Abnormality of the respiratory system;Abnormality of the digestive system;Abnormality of limbs PKP2 - ENSG00000309501;ENSG00000257435;ENSG00000309487 PKP2 -55000 YARS2 -195901 DNM1L -206148 FGD4 -305748 SYT10 422440 BICD1 -568165 MIR4302 -7077719 MIR920 -8739303 ENSG00000309487 0 ENSG00000257435 36965 False True True False False False True False False True False False True True True False False
chr12:40411706:T:C 1.0000 Abnormality of the nervous system LRRK2;MUC19 - ENSG00000258167 MUC19 0 LRRK2 -42421 CNTN1 280733 SLC2A13 -305617 REDIC1 -503406 PDZRN4 776614 MIR7851 1911994 MIR4698 6776106 ENSG00000258167 0 ENSG00000296211 104513 False False False False False False False False False False False False False True False False False
chr12:43277144:A:G 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the breast;Abnormality of the endocrine system;Abnormality of limbs ADAMTS20 - ENSG00000298530;ENSG00000305349;ENSG00000305369;ENSG00000303249 ADAMTS20 76722 PUS7L 441848 IRAK4 481800 TWF1 516579 TMEM117 558823 PRICKLE1 -686789 MIR7851 -953285 MIR4698 3910668 ENSG00000298530 -10243 ENSG00000303249 -22288 False True True False True False False False True True False False False True False False False
chr12:47054843:C:T 1.0000 Abnormality of the nervous system AMIGO2;PCED1B - ENSG00000298753;ENSG00000274723;ENSG00000298716;PCED1B-AS1 AMIGO2 20864 PCED1B 24760 SLC38A4 -222435 RPAP3 606406 ENDOU 654891 RAPGEF3 679520 MIR4698 132969 MIR4494 309343 PCED1B-AS1 80430 ENSG00000274723 -82555 False False False False False False False False False False False False False True False False False
chr12:104235448:A:C 1.0000 Abnormality of the ear;Abnormality of the nervous system;Abnormality of limbs EID3;NFYB;TXNRD1 - ENSG00000298015;LINC02385;ENSG00000294348;ENSG00000286258;ENSG00000257732;ENSG00000304986 TXNRD1 0 EID3 68291 NFYB -97207 HCFC2 -128924 GLT8D2 -171265 CHST11 219847 MIR3652 -304893 MIR3922 356185 ENSG00000294348 -18711 ENSG00000257732 26861 False False True False False False False True False False False False False True False False False
chr12:109945122:T:G 1.0000 Abnormality of the nervous system GLTP;ANKRD13A;C12orf76;TCHP;GIT2 - ENSG00000277299;ENSG00000277595;ENSG00000302242;ENSG00000249094 TCHP 0 ANKRD13A 54064 GLTP -64581 C12orf76 81906 TRPV4 -111716 FAM222A -174627 MIR4497 -111686 MIR619 -1108116 ENSG00000277299 3267 ENSG00000249094 -56461 False False False False False False False False False False False False False True False False False
chr12:118437495:G:A 1.0000 Abnormality of limbs SUDS3;TAOK3 - ENSG00000270482;ENSG00000275759;ENSG00000275409;ENSG00000293801;ENSG00000306132 SUDS3 -19462 TAOK3 -64588 PEBP1 -291911 VSIG10 -301469 WSB2 -375065 RFC5 -404365 MIR1178 1276139 MIR4498 1717939 ENSG00000275409 -6796 ENSG00000275759 -8625 False False True False False False False False False False False False False False False False False
chr12:122538836:G:A 1.0000 Abnormality of head or neck;Abnormality of the nervous system;Abnormality of the respiratory system;Abnormality of the digestive system ZCCHC8;RSRC2;KNTC1 - ENSG00000275265;ENSG00000274191 KNTC1 0 RSRC2 -11836 ZCCHC8 -37904 CLIP1 -116167 HCAR2 162457 HCAR3 175920 MIR4304 471831 MIR8072 825928 ENSG00000275265 -37195 ENSG00000274191 95294 False True False False False False True False False False False False False True True False False
chr12:123107224:C:T 1.0000 Abnormality of the genitourinary system;Abnormality of the nervous system;Abnormality of the cardiovascular system;Abnormality of metabolism/homeostasis;Abnormality of the digestive system PITPNM2;MPHOSPH9 MIR4304 PITPNM2-AS1;ENSG00000304246;ENSG00000303142 PITPNM2 0 MPHOSPH9 45096 ARL6IP4 -124311 ABCB9 -125575 MTRFR 126161 OGFOD2 -127181 MIR4304 -96496 MIR8072 257540 PITPNM2-AS1 -22469 ENSG00000303142 -30611 False False False True False True True False False False True False False True False False False
chr13:32261931:C:T 1.0000 Abnormality of the eye;Abnormality of the nervous system ZAR1L;FRY;BRCA2 - ENSG00000302448 FRY 0 ZAR1L 41768 BRCA2 53155 N4BP2L1 138792 N4BP2L2 170486 PDS5B 324521 MIR4305 7402103 MIR2276 -8099427 ENSG00000302448 17779 ENSG00000270008 163427 False False False False False False False False False True False False False True False False False
chr13:51025479:G:A 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the digestive system RNASEH2B;C13orf42 - GUCY1B2 RNASEH2B -1359 C13orf42 56640 DLEU7 -181540 FAM124A 196855 SERPINE3 310294 INTS6 328598 MIR5693 323088 MIR4703 527110 GUCY1B2 0 RNASEH2B-AS1 -114690 False True False False False False True False False True False False False True False False False
chr13:75176947:G:A 1.0000 Abnormality of head or neck;Abnormality of the respiratory system;Abnormality of the immune system;Abnormality of limbs - - ENSG00000302844;LINC01078 TBC1D4 106556 COMMD6 348267 UCHL3 372536 LMO7 443487 KLF12 -1042543 KCTD12 1703228 MIR3665 2521065 MIR4704 -8958623 ENSG00000302844 -28252 LINC01078 73533 False True True False False False False False False False False True False False True False False
chr13:103761054:C:T 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of metabolism/homeostasis;Abnormality of the digestive system - - ENSG00000303811 SLC10A2 -694637 METTL21EP -865021 ERCC5 -885059 BIVM-ERCC5 -885060 BIVM -919521 POGLUT2 -962014 MIR4705 -1715050 MIR2681 -1793308 ENSG00000303811 -96400 ENSG00000302562 -228070 False True False True False False True False False True False False False True False False False
chr13:113409965:C:T 1.0000 Abnormality of head or neck;Abnormality of the nervous system;Abnormality of the cardiovascular system;Abnormality of the respiratory system;Abnormality of limbs LAMP1;GRTP1;ADPRHL1;DCUN1D2;TMCO3 - ENSG00000276434;ENSG00000297625;GRTP1-AS1;DCUN1D2-AS;ENSG00000296210 ADPRHL1 0 GRTP1 -45817 DCUN1D2 45854 TMCO3 81056 LAMP1 -86293 CUL4A -142857 MIR8075 -146966 MIR548AR 834540 ENSG00000296210 -30874 ENSG00000297625 -44494 False True True False False True False False False False False False False True True False False
chr13:113756388:CGGTGTCCATGTATCTGCACACACATGACTCAT:C 1.0000 Abnormality of the nervous system;Abnormality of the digestive system ATP4B;GRK1;GAS6;TMEM255B - ENSG00000300334;ENSG00000307605;GAS6-AS1 TMEM255B 2806 GRK1 -18652 GAS6 64129 ATP4B -98190 TFDP1 -114915 C13orf46 197285 MIR548AR 488085 MIR8075 -493389 ENSG00000307605 0 GAS6-AS1 59210 False False False False False False True False False False False False False True False False False
chr14:22571956:G:A 1.0000 Abnormality of the nervous system;Abnormality of metabolism/homeostasis DAD1;ABHD4;OR6J1 - ENSG00000259003;ENSG00000275552;LINC02332;ENSG00000305009;TRD-AS1;OXA1L-DT DAD1 0 ABHD4 26334 OR6J1 58973 OXA1L 194566 SLC7A7 201266 MRPL52 257923 MIR4707 384994 MIR208A 816640 LINC02332 -7059 ENSG00000259003 -12153 False False False True False False False False False False False False False True False False False
chr14:27219168:C:A 1.0000 Abnormality of the nervous system - - MIR4307HG;NOVA1-DT;MIR3171HG NOVA1 -621135 FOXG1 1545161 STXBP6 -2169021 PRKD1 2357311 GZMB -2584901 GZMH -2609469 MIR4307 -310443 MIR3171 414037 NOVA1-DT 0 MIR3171HG 39974 False False False False False False False False False False False False False True False False False
chr14:37595116:A:C 1.0000 Abnormality of the nervous system FOXA1;MIPOL1;TTC6 - ENSG00000289903;ENSG00000297171;ENSG00000259087;ENSG00000303511 FOXA1 0 TTC6 513 MIPOL1 -15991 SLC25A21 -422510 SSTR1 612788 CLEC14A 658884 MIR4503 -642725 MIR624 -6580374 ENSG00000297171 -6264 ENSG00000289903 -6352 False False False False False False False False False False False False False True False False False
chr14:91877745:T:C 1.0000 Abnormality of the genitourinary system TC2N;CATSPERB;FBLN5;TRIP11 - ENSG00000294352;ENSG00000307754 FBLN5 0 TC2N -10209 TRIP11 88246 CATSPERB -97038 ATXN3 166751 NDUFB1 238377 MIR4506 2070481 MIR3173 3260174 ENSG00000294352 -31057 ENSG00000307754 75087 False False False False False False False False False False True False False False False False False
chr14:99936102:G:A 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system EML1;EVL - ENSG00000258693;ENSG00000304787;ENSG00000307417 EML1 0 EVL 35347 DEGS2 207855 CYP46A1 -208801 HHIPL1 -255533 YY1 302196 MIR151B 173317 MIR342 173553 ENSG00000307417 5760 ENSG00000258693 41013 False True False False False False False False False True False False False True False False False
chr15:65397114:A:C 1.0000 Abnormality of the genitourinary system;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the endocrine system;Abnormality of metabolism/homeostasis;Abnormality of the respiratory system;Abnormality of the digestive system;Abnormality of limbs IGDCC3;DPP8;PARP16;IGDCC4 - ENSG00000294883 IGDCC4 0 IGDCC3 -19112 DPP8 45349 PARP16 -96496 HACD3 133304 INTS14 181639 MIR4511 322132 MIR1272 -634599 ENSG00000294883 -92688 ENSG00000299580 -138437 False False True True False False True False True True True False False True True False False
chr15:68783072:G:A 1.0000 Abnormality of the nervous system CORO2B;ANP32A;SPESP1 MIR4312 ENSG00000289998;ENSG00000306335;ENSG00000306312;ENSG00000285919 ANP32A 0 SPESP1 35149 CORO2B -55266 SPESP1-NOX5 147432 NOX5 231623 ITGA11 -350909 MIR4312 18778 MIR629 1296300 ENSG00000306312 -7053 ENSG00000289998 -27356 False False False False False False False False False False False False False True False False False
chr15:74635931:C:T 1.0000 Abnormality of the nervous system CYP1A1;CLK3;EDC3;ARID3B - ENSG00000299287;ENSG00000275527;ENSG00000260919;ENSG00000299272 CLK3 0 ARID3B -37800 CYP1A1 83611 CYP1A2 112914 CSK 146149 UBL7 -174749 MIR4513 152741 MIR6882 204711 ENSG00000260919 -20335 ENSG00000275527 -25378 False False False False False False False False False False False False False True False False False
chr15:82851397:GGTGAAGTGTGTCACACGCCTTGTCAC:G 1.0000 Abnormality of head or neck;Abnormality of the ear;Abnormality of the nervous system;Abnormality of the integument;Abnormality of limbs FSD2;WHAMM;HOMER2 - SNHG21;ENSG00000308606;ENSG00000259805 HOMER2 0 WHAMM -15289 FSD2 -45327 RAMAC 134787 C15orf40 137018 AP3B2 -141285 MIR4515 215912 MIR4514 -1853924 ENSG00000308606 41354 SNHG21 -54715 False True True False False False False True False False False False True True False False False
chr15:90915917:C:T 1.0000 Abnormality of the nervous system FES;RCCD1;BLM;FURIN;MAN2A2;HDDC3;UNC45A;PRC1;ENSG00000284946;VPS33B - ENSG00000298687;ENSG00000303673;ENSG00000259661;RCCD1-AS1;ENSG00000259704;ENSG00000294486;PRC1-AS1;VPS33B-DT MAN2A2 0 HDDC3 14051 UNC45A 14263 FES -20141 FURIN -32353 RCCD1 38964 MIR3174 -909076 MIR5009 -1031887 ENSG00000259661 4301 ENSG00000303673 -13360 False False False False False False False False False False False False False True False False False
chr15:100569624:C:T 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of limbs LINS1;ASB7;CERS3 - ENSG00000259540;ENSG00000270127 LINS1 0 CERS3 -24629 ASB7 32965 ADAMTS17 -227619 ALDH1A3 292300 LRRK1 349703 MIR1302-10 1390835 MIR6859-3 1403900 ENSG00000259540 -9821 ENSG00000270127 -19471 False True True False False False False False False True False False False True False False False
chr16:6474002:G:C 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the ear;Abnormality of the nervous system;Abnormality of the endocrine system;Abnormality of the integument;Abnormality of the cardiovascular system;Abnormality of metabolism/homeostasis;Abnormality of the digestive system;Abnormality of limbs RBFOX1 - ENSG00000260835;ENSG00000286635 RBFOX1 0 EEF2KMT -1376207 ALG1 -1386623 C16orf89 -1407892 NAGPA -1439861 SEC14L5 -1454845 MIR8065 -841436 MIR6769A -1802612 ENSG00000286635 -78424 ENSG00000260835 99765 False True True True False True True True True True False False True True False False False
chr16:19521602:G:A 1.0000 Abnormality of the genitourinary system TMC5;GDE1;CCP110;VPS35L - ENSG00000260934;ENSG00000260592 GDE1 0 CCP110 2209 TMC5 -22489 VPS35L 33638 KNOP1 180335 IQCK 194854 MIR3179-4 -1027026 MIR3670-4 -1033237 ENSG00000260934 -19316 ENSG00000260592 -33604 False False False False False False False False False False True False False False False False False
chr16:25980782:A:C 1.0000 Abnormality of head or neck HS3ST4 MIR548W ENSG00000303230;ENSG00000285882 HS3ST4 0 ZKSCAN2 -722937 AQP8 -751850 LCMT1 -802551 ARHGAP17 -965116 SLC5A11 -1069154 MIR548W 44455 MIR1273H -1777551 ENSG00000285882 0 ENSG00000303230 50923 False True False False False False False False False False False False False False False False False
chr16:50932615:T:G 1.0000 Abnormality of the nervous system;Abnormality of metabolism/homeostasis;Abnormality of limbs - - ENSG00000306234;ENSG00000260042;LINC02127;LINC02128 CYLD -130680 NOD2 -199538 SALL1 203367 SNX20 -251262 NKD1 -283366 BRD7 -563627 MIR3181 -190238 MIR6771 -639940 LINC02128 -31552 ENSG00000260042 -53337 False False True True False False False False False False False False False True False False False
chr16:52937724:C:T 1.0000 Abnormality of metabolism/homeostasis CHD9NB - ENSG00000293233 CHD9NB 97966 CHD9 117267 TOX3 -389922 RBL2 496253 AKTIP 553316 RPGRIP1L 660429 MIR3181 -2195347 MIR6771 -2645049 ENSG00000293233 5057 ENSG00000300200 161572 False False False True False False False False False False False False False False False False False
chr16:83518839:A:T 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the cardiovascular system;Abnormality of metabolism/homeostasis CDH13 MIR3182 - CDH13 0 HSBP1 200472 MLYCD 380276 OSGIN1 412472 NECAB2 449405 SLC38A8 490828 MIR3182 -10431 MIR8058 -829820 CDH13-AS1 -119248 ENSG00000261103 159204 False True False True False True False False False True False False False True False False False
chr16:84880494:C:A 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of limbs CRISPLD2;ZDHHC7 - ENSG00000260859;ENSG00000285848;ENSG00000279622;LINC02176 CRISPLD2 0 ZDHHC7 93681 USP10 -100572 KIAA0513 147288 KLHL36 -212808 CIBAR2 217864 MIR5093 425732 MIR1910 861127 ENSG00000279622 7543 ENSG00000285848 -23829 False True True False False False False False False True False False False True False False False
chr16:86579148:A:C 1.0000 Abnormality of blood and blood-forming tissues FOXF1;FOXC2;FOXL1;MTHFSD - ENSG00000270020;ENSG00000303617;FOXC2-AS1;ENSG00000260387;FENDRR;ENSG00000261161 FOXL1 0 FOXC2 -9420 MTHFSD -23913 FOXF1 -63726 C16orf95 504414 IRF8 -656542 MIR6774 -660732 MIR1910 -837448 ENSG00000261161 0 FOXC2-AS1 -10129 True False False False False False False False False False False False False False False False False
chr16:88463089:C:A 1.0000 Abnormality of the nervous system ZNF469;ZFPM1 MIR5189 ENSG00000307926;ENSG00000295015;ENSG00000295033;ZFPM1-AS1;ENSG00000289151;ENSG00000309068 ZFPM1 0 ZNF469 -22332 ZC3H18 107314 IL17C 175483 CYBA 180186 MVD 188846 MIR5189 5829 MIR4722 253189 ENSG00000309068 9556 ZFPM1-AS1 49871 False False False False False False False False False False False False False True False False False
chr16:88613124:G:A 1.0000 Abnormality of the nervous system;Abnormality of the respiratory system;Abnormality of limbs IL17C;CYBA;SNAI3;CTU2;MVD;RNF166;ZFPM1;ZC3H18 - ENSG00000295015;ENSG00000295033;ENSG00000302696;ENSG00000259813;ENSG00000278341;ZFPM1-AS1;ENSG00000289151;SNAI3-AS1 ZC3H18 0 IL17C 25448 CYBA 30151 MVD 38811 SNAI3 64564 ZFPM1 -76093 MIR4722 103154 MIR5189 -144093 ENSG00000289151 -42873 ENSG00000302696 -42944 False False True False False False False False False False False False False True True False False
chr17:10055457:C:T 1.0000 Abnormality of the eye;Abnormality of the nervous system;Abnormality of the endocrine system;Abnormality of the cardiovascular system;Abnormality of blood and blood-forming tissues;Abnormality of metabolism/homeostasis;Abnormality of the respiratory system;Abnormality of the immune system;Abnormality of the digestive system GAS7 - - GAS7 0 RCVRN -150186 GLP2R -163358 GSG1L2 -233378 MYH13 245408 DHRS7C -263865 MIR4521 -1868453 MIR6883 -1910386 MYHAS 236359 ENSG00000283025 -244410 True False False True False True True False True True False True False True True False False
chr17:28592925:G:T 1.0000 Abnormality of the nervous system;Abnormality of the digestive system UNC119;SLC13A2;FOXN1;PIGS;SPAG5;ENSG00000258472;BLTP2;SDF2;SUPT6H;RSKR;ALDOC - ENSG00000265287;ENSG00000264044;ENSG00000305391;SPAG5-AS1;ENSG00000265205;ALDOC-AS1 RSKR 0 ALDOC -15977 PIGS -21131 BLTP2 21521 UNC119 -40294 FOXN1 -54025 MIR4723 -232191 MIR451A 268444 SPAG5-AS1 5865 ENSG00000265287 15038 False False False False False False True False False False False False False True False False False
chr17:31715725:G:A 1.0000 Abnormality of the nervous system - - ENSG00000309179;ENSG00000297113;ENSG00000308319;ENSG00000263567;ENSG00000266877 COPRS 136146 UTP6 145179 RAB11FIP4 -177514 SUZ12 221282 LRRC37B 291658 NF1 -333609 MIR365B -140204 MIR4725 -140367 ENSG00000297113 -5779 ENSG00000308319 9620 False False False False False False False False False False False False False True False False False
chr17:42090269:C:A 1.0000 Abnormality of the eye;Abnormality of the nervous system;Abnormality of the digestive system KAT2A;HCRT;DNAJC7;NKIRAS2;C17orf113;DHX58;ENSG00000267261;HSPB9;RAB5C;KCNH4;GHDC;ZNF385C - ENSG00000297600;ENSG00000294424;RAB5C-AS1 ZNF385C 0 DHX58 11135 KAT2A 22842 ENSG00000267261 29405 HSPB9 32535 RAB5C 34709 MIR548AT 404504 MIR5010 423919 ENSG00000297600 -213 ENSG00000294424 -24947 False False False False False False True False False True False False False True False False False
chr17:42586755:A:C 1.0000 Abnormality of the nervous system NAGLU;HSD17B1;MLX;PSMC3IP;PLEKHH3;COASY;TUBG1;TUBG2;CCR10;CNTNAP1;ATP6V0A1;RETREG3 MIR548AT;MIR5010 ENSG00000267222;ENSG00000267632;ENSG00000304458;ENSG00000304438;HSD17B1-AS1;ENSG00000287710;ENSG00000300389;ENSG00000266929;ENSG00000299802;ENSG00000267042;ENSG00000267765 RETREG3 0 PSMC3IP -8924 MLX -13516 COASY -20478 TUBG1 22886 HSD17B1 -31541 MIR5010 -72448 MIR548AT -91925 ENSG00000287710 -8389 ENSG00000266929 -24693 False False False False False False False False False False False False False True False False False
chr17:48529883:C:T 2.0000 Abnormality of the genitourinary system;Abnormality of the nervous system;Abnormality of the respiratory system;Abnormality of the digestive system HOXB2;HOXB4;HOXB5;HOXB6;HOXB8;HOXB9;HOXB1;HOXB3;HOXB7;SKAP1 MIR10A ENSG00000295933;ENSG00000295257;ENSG00000294524;HOXB-AS2;ENSG00000257178;HOXB-AS4;ENSG00000264451;ENSG00000294508;HOXB-AS1;HOXB-AS3 HOXB1 0 HOXB2 11011 HOXB3 18987 HOXB4 45624 HOXB5 61374 HOXB6 65868 MIR10A 49955 MIR196A1 102607 ENSG00000294508 0 ENSG00000294524 -2232 False False False False False False True False False False True False False True True False False
chr17:73314518:C:T 1.0000 Abnormality of the genitourinary system VCF1;MTNAP1;CPSF4L;CDC42EP4;SDK2 - ENSG00000265010 CDC42EP4 -2513 SDK2 19866 CPSF4L -52166 MTNAP1 -65559 VCF1 -77765 COG1 -106011 MIR3615 1434095 MIR3678 2091551 ENSG00000265010 -69812 ENSG00000277728 -111087 False False False False False False False False False False True False False False False False False
chr17:82172773:G:A 1.0000 Abnormality of the eye;Abnormality of the nervous system FASN;SLC16A3;CSNK1D;CCDC57 MIR6787 ENSG00000265678;ENSG00000266654;ENSG00000301781;ENSG00000275888;ENSG00000305552;ENSG00000264548 CCDC57 0 SLC16A3 45161 CSNK1D 66250 FASN -74479 DUS1L -106886 GPS1 -115303 MIR6787 63895 MIR6786 -478904 ENSG00000266654 -12321 ENSG00000265678 -17958 False False False False False False False False False True False False False True False False False
chr17:82447369:G:T 1.0000 Abnormality of head or neck;Abnormality of the ear;Abnormality of the nervous system UTS2R;TEX19;OGFOD3;HEXD;NARF;CYBC1;FOXK2 - ENSG00000306365;ENSG00000303797;ENSG00000309042;ENSG00000260011;ENSG00000309075;ENSG00000308980;ENSG00000264812;HEXD-IT1;ENSG00000287193;NARF-AS2;NARF-IT1;NARF-AS1 CYBC1 0 HEXD -4724 NARF 10811 OGFOD3 -28732 UTS2R -69911 FOXK2 72344 MIR6787 -210641 MIR4525 220864 ENSG00000287193 3542 NARF-AS2 5812 False True False False False False False True False False False False False True False False False
chr17:82598010:G:C 1.0000 Abnormality of the genitourinary system;Abnormality of the nervous system;Abnormality of the respiratory system;Abnormality of the digestive system;Abnormality of limbs WDR45B;RAB40B;FOXK2 MIR4525 ENSG00000262652;ENSG00000262147;ENSG00000261845 FOXK2 0 WDR45B 16552 RAB40B 56963 NARF -107473 FN3KRP 118696 FN3K 137605 MIR4525 70223 MIR6787 -361282 ENSG00000261845 4979 ENSG00000262147 -9547 False False True False False False True False False False True False False True True False False
chr18:8351465:C:G 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the ear;Abnormality of the nervous system;Abnormality of the integument;Abnormality of limbs PTPRM - ENSG00000305870;ENSG00000266149;ENSG00000263970;ENSG00000265413 PTPRM 0 RAB12 257972 MTCL1 354091 NDUFV2 751165 ANKRD12 784763 TWSG1 983302 MIR4317 -1977040 MIR6788 2408119 ENSG00000266149 9353 ENSG00000305870 -35189 False True True False False False False True False True False False True True False False False
chr18:27482857:C:T 1.0000 Abnormality of the nervous system - - ENSG00000286465;ENSG00000264151;ENSG00000263611 CHST9 -297549 CDH2 450022 AQP4 -617086 KCTD1 -825456 TAF4B -1091172 PSMA8 -1289502 MIR8057 -891322 MIR302F 2816053 ENSG00000264151 0 ENSG00000286465 -12811 False False False False False False False False False False False False False True False False False
chr18:33716462:CAAGG:C 1.0000 Abnormality of the nervous system ASXL3 - ENSG00000308308 ASXL3 0 NOL4 134634 CCDC178 -275361 DTNA 776825 KLHL14 -943439 GAREM1 -1245580 MIR3975 1875271 MIR187 2188352 ENSG00000308308 32611 ASXL3-DT -138275 False False False False False False False False False False False False False True False False False
chr18:35443610:G:A 1.0000 Abnormality of the nervous system;Abnormality of limbs ZNF24;ZNF396;ENSG00000267140;INO80C - ENSG00000308423;ENSG00000289891;ENSG00000275512;ZNF24TR ENSG00000267140 261 INO80C 8620 ZNF396 -66273 ZNF24 -98128 GALNT1 137507 ZSCAN30 -153365 MIR3975 148127 MIR187 461208 ZNF24TR 0 ENSG00000275512 -37082 False False True False False False False False False False False False False True False False False
chr18:39799018:AGCTTTTCACTT:A 1.0000 Abnormality of the integument - - ENSG00000303294;MIR924HG;LINC01902;LINC01901 PIK3C3 2156205 CELF4 -2233191 KIAA1328 -2566846 RIT2 2944198 TPGS2 -2969802 FHOD3 -3018798 MIR5583-1 -122239 MIR5583-2 -122241 MIR924HG 0 LINC01902 716 False False False False False False False False False False False False True False False False False
chr18:48878655:C:A 1.0000 Abnormality of the ear;Abnormality of the nervous system SMAD7;CTIF - ENSG00000302008;ENSG00000299449;ENSG00000266905;ENSG00000267764;ENSG00000298379;ENSG00000298289;ENSG00000309250 CTIF -15438 SMAD7 41198 DYM 157732 ZBTB7C -467903 C18orf32 598588 RPL17-C18orf32 603026 MIR4744 171032 MIR4743 -207987 ENSG00000298379 19825 ENSG00000267764 -39527 False False False False False False False True False False False False False True False False False
chr18:49721911:T:C 1.0000 Abnormality of the nervous system ACAA2;ENSG00000266997 - ENSG00000267674;SNHG22;ENSG00000310339 ACAA2 60253 ENSG00000266997 73882 MYO5B 100878 LIPG -122726 RPL17 -229403 RPL17-C18orf32 -229432 MIR1539 -234489 MIR4320 404588 ENSG00000310339 0 ENSG00000267674 17912 False False False False False False False False False False False False False True False False False
chr19:2037813:G:A 1.0000 Abnormality of the eye;Abnormality of the nervous system;Abnormality of the integument BTBD2;MKNK2;MOB3A;AP3D1;CSNK1G2;IZUMO4 - ENSG00000303728;CSNK1G2-AS1;ENSG00000267283;ENSG00000300005;ENSG00000303713 MKNK2 0 BTBD2 -2932 MOB3A 33223 CSNK1G2 -56475 IZUMO4 58616 AP3D1 63175 MIR1227 196249 MIR6789 198016 ENSG00000300005 23878 ENSG00000267283 -47443 False False False False False False False False False True False False True True False False False
chr19:8577465:A:C 1.0000 Abnormality of the nervous system;Abnormality of the cardiovascular system PRAM1;ZNF414;HNRNPM;ADAMTS10;MYO1F;NFILZ - ENSG00000268618;ENSG00000267986;ENSG00000307103;ENSG00000308303 MYO1F -23 ADAMTS10 2775 NFILZ 53168 ZNF414 -63298 PRAM1 -74825 HNRNPM -88351 MIR4999 -188085 MIR6792 -959960 ENSG00000267986 3695 ENSG00000268618 -27326 False False False False False True False False False False False False False True False False False
chr19:10111567:G:T 1.0000 Abnormality of the genitourinary system;Abnormality of head or neck;Abnormality of the eye;Abnormality of the ear;Abnormality of the nervous system;Abnormality of the cardiovascular system;Abnormality of the respiratory system;Abnormality of the digestive system;Abnormality of limbs RDH8;P2RY11;EIF3G;PPAN-P2RY11;PPAN;SHFL;ANGPTL6;DNMT1 MIR5589 ENSG00000299206;ENSG00000267387;C3P1 PPAN-P2RY11 0 P2RY11 126 EIF3G 3447 ANGPTL6 -8889 SHFL -18315 DNMT1 21775 MIR5589 -73154 MIR4322 118846 ENSG00000267387 -21190 C3P1 -36797 False True True False False True True True False True True False False True True False False
chr19:24324186:A:C 1.0000 Abnormality of the nervous system - - - ZNF254 -194218 ZNF726 -379027 RPSA2 -453024 ZNF681 -565295 ZNF675 -636966 ZNF91 -928715 MIR1270 -3924832 MIR640 -4889028 ENSG00000293299 -160702 LINC03085 -177105 False False False False False False False False False False False False False True False False False
chr19:30757242:A:T 1.0000 Abnormality of the nervous system;Abnormality of the endocrine system ZNF536 - ENSG00000267760;ENSG00000307208;ENSG00000307188;LINC01834 ZNF536 -43656 TSHZ3 392737 URI1 -740630 CCNE1 -932930 C19orf12 -1041453 PLEKHF1 -1081765 MIR6887 4365458 MIR5196 4588271 LINC01834 0 ENSG00000307188 -16283 False False False False False False False False True False False False False True False False False
chr19:32506087:G:A 1.0000 Abnormality of the nervous system PDCD5;DPY19L3;ANKRD27 - DPY19L3-DT DPY19L3 -20192 PDCD5 75103 ANKRD27 90919 ZNF507 -118420 RGS9BP 169761 NUDT19 185734 MIR6887 2616613 MIR5196 2839426 DPY19L3-DT -98263 ENSG00000267557 160211 False False False False False False False False False False False False False True False False False
chr19:48968852:G:A 1.0000 Abnormality of the nervous system;Abnormality of limbs FTL;LHB;SAXO3;CGB3;ENSG00000267335;CGB2;CGB1;CGB5;CGB8;CGB7;ENSG00000283663;NTF4;PPP1R15A;NUCB1;DHDH;BAX;GYS1;RUVBL2;KCNA7;TULP2 MIR6798 NUCB1-AS1;ENSG00000260366;ENSG00000309215;ENSG00000305667;ENSG00000267898;ENSG00000299502;ENSG00000268108;ENSG00000268287;ENSG00000305635 GYS1 0 FTL -956 BAX -7054 DHDH -23883 RUVBL2 24710 NUCB1 -45379 MIR6798 41054 MIR4324 339945 ENSG00000305635 -2899 ENSG00000267898 -3694 False False True False False False False False False False False False False True False False False
chr19:49339065:C:A 1.0000 Abnormality of head or neck;Abnormality of the nervous system;Abnormality of the integument;Abnormality of limbs CD37;PTH2;GFY;SLC6A16;TEAD2;DKKL1;SLC17A7;KASH5 MIR4324 ENSG00000304570;ENSG00000268157;ENSG00000297851;ENSG00000297879;ENSG00000197813;ENSG00000268686;ENSG00000302245 CD37 0 TEAD2 1530 SLC6A16 -13850 DKKL1 22718 KASH5 49154 PTH2 83354 MIR4324 -30197 MIR150 161720 ENSG00000197813 0 ENSG00000268157 17087 False True True False False False False False False False False False True True False False False
chr19:50580288:G:A 1.0000 Abnormality of the nervous system JOSD2;C19orf81;EMC10;ASPDH;LRRC4B;SYT3;SHANK1 - ENSG00000268854;ENSG00000299174;ENSG00000268231;MYREM;ENSG00000298650 LRRC4B -11853 SYT3 41019 ASPDH -65598 JOSD2 -69068 C19orf81 69157 SHANK1 78967 MIR8074 626641 MIR4751 -647151 ENSG00000268231 -22319 ENSG00000298650 24117 False False False False False False False False False False False False False True False False False
chr19:54622772:C:T 1.0000 Abnormality of the nervous system;Abnormality of the respiratory system LILRA1;LILRA2;LILRB1;LILRB4 MIR8061 ENSG00000303131;ENSG00000303115;ENSG00000269271;LILRB1-AS1;ENSG00000306214;ENSG00000299952;LILRP2;ENSG00000290933;ENSG00000310422 LILRB1 0 LILRA1 -20391 LILRB4 21117 LILRA2 -32485 KIR3DL3 101670 LAIR2 -112085 MIR8061 22537 MIR4752 -340592 LILRB1-AS1 12950 ENSG00000306214 21028 False False False False False False False False False False False False False True True False False
chr1:15329239:C:T 1.0000 Abnormality of the nervous system EFHD2;FHAD1 - EFHD2-AS1;FHAD1-AS1;ENSG00000236045 FHAD1 0 EFHD2 80649 TMEM51 -108761 CTRC 109203 CELA2A 127489 CELA2B 136670 MIR3675 1529710 MIR3972 1948650 EFHD2-AS1 0 ENSG00000236045 4927 False False False False False False False False False False False False False True False False False
chr1:26850580:C:A 2.0000 Abnormality of the ear;Abnormality of the nervous system SFN;GPATCH3;NR0B2;PIGV;ZDHHC18;GPN2;NUDC;KDF1;ARID1A - ENSG00000309929;ENSG00000226698;ENSG00000289554;ENSG00000303544;ENSG00000304862 ZDHHC18 0 SFN 12569 GPN2 25552 GPATCH3 39908 NUDC 49658 PIGV -49921 MIR1976 -295987 MIR3917 -944126 ENSG00000304862 1638 ENSG00000309929 14798 False False False False False False False True False False False False False True False False False
chr1:28914997:A:C 1.0000 Abnormality of the nervous system OPRD1;EPB41 - ENSG00000233427;ENSG00000305996;ENSG00000300997 EPB41 0 OPRD1 -43730 YTHDF2 -145222 GMEB1 -195644 TMEM200B 204432 SRSF4 232746 MIR4420 1824159 MIR1976 -2360404 ENSG00000300997 12232 ENSG00000233427 -37661 False False False False False False False False False False False False False True False False False
chr1:29254638:T:TA 1.0000 Abnormality of the nervous system SRSF4;PTPRU;MECR - ENSG00000237934;LINC01756 PTPRU 0 MECR -23696 SRSF4 -72738 TMEM200B -130735 EPB41 -134592 OPRD1 -383371 MIR4420 1484518 MIR4254 2504022 ENSG00000237934 -29822 LINC01756 74982 False False False False False False False False False False False False False True False False False
chr1:36355316:C:A 1.0000 Abnormality of the nervous system;Abnormality of the endocrine system;Abnormality of metabolism/homeostasis LSM10;THRAP3;EVA1B;STK40;SH3D21;OSCP1 - ENSG00000286379;ENSG00000300712;ENSG00000300693;ENSG00000297367 STK40 0 SH3D21 -25976 EVA1B -31162 LSM10 35922 THRAP3 -49959 OSCP1 60511 MIR4255 806247 MIR6732 1124914 ENSG00000286379 -19910 ENSG00000300693 30644 False False False True False False False False True False False False False True False False False
chr1:39208547:G:A 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the cardiovascular system;Abnormality of the respiratory system;Abnormality of the immune system;Abnormality of the digestive system MACF1 - ENSG00000287422;ENSG00000226438 MACF1 0 NDUFS5 -173911 AKIRIN1 -202488 RHBDL2 -266717 BMP8A 283089 ENSG00000274944 -326930 MIR3659 -1119218 MIR30E 1545808 ENSG00000287422 18123 ENSG00000226438 41291 False True False False False True True False False True False True False True True False False
chr1:40640602:C:T 1.0000 Abnormality of the nervous system;Abnormality of the voice ZNF684;RIMS3;NFYC - ENSG00000308470;ENSG00000286838;ENSG00000287743;NFYC-AS1 RIMS3 0 NFYC 51046 ZNF684 -92435 EXO5 -124564 KCNQ4 143185 ZFP69 -144259 MIR30E 113753 MIR30C1 116682 ENSG00000287743 19175 NFYC-AS1 28487 False False False False False False False False False False False False False True False False True
chr1:44078434:C:CTTTTT 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the respiratory system;Abnormality of the digestive system CCDC24;B4GALT2;SLC6A9;KLF17;KLF18 - ENSG00000308853;ENSG00000306803;ENSG00000230615;ENSG00000308838 KLF17 40387 SLC6A9 -46967 KLF18 59387 CCDC24 -81906 B4GALT2 -87264 ATP6V0B -100139 MIR6079 -239751 MIR5584 467059 ENSG00000230615 0 ENSG00000308838 -34614 False True False False False False True False False True False False False True True False False
chr1:47289474:A:T 1.0000 Abnormality of the genitourinary system;Abnormality of metabolism/homeostasis TAL1;STIL;CMPK1;PDZK1IP1 - ENSG00000226252;ENSG00000307358;ENSG00000307375;ENSG00000309388;LINC01389 STIL 0 CMPK1 44316 TAL1 -57249 PDZK1IP1 -98430 FOXE3 126811 CYP4A22 -139747 MIR5584 -2743922 MIR6079 -3450791 ENSG00000307375 -57132 ENSG00000307358 -58060 False False False True False False False False False False True False False False False False False
chr1:62148473:AAGG:A 1.0000 Abnormality of the nervous system L1TD1;KANK4;PATJ MIR3116-1;MIR3116-2 ENSG00000298960 PATJ 0 L1TD1 46314 KANK4 87689 USP1 287821 DOCK7 305822 TM2D1 -423050 MIR3116-1 -69614 MIR3116-2 -69617 ENSG00000298960 30067 ENSG00000301169 -180264 False False False False False False False False False False False False False True False False False
chr1:65687428:T:A 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the ear;Abnormality of the nervous system;Abnormality of the integument;Abnormality of limbs LEPR - ENSG00000285079;ENSG00000299098 LEPR -45869 PDE4B 105086 LEPROT -251421 DNAJC6 -271557 AK4 -455283 JAK1 -619674 MIR101-1 -628920 MIR3671 -629586 ENSG00000285079 16515 ENSG00000299098 32930 False True True False False False False True False True False False True True False False False
chr1:87062261:C:T 1.0000 Abnormality of the nervous system HS2ST1;ENSG00000267561 - LINC01140 HS2ST1 0 SELENOF -147837 LMO4 266619 SH3GLB1 -314077 CLCA4 -481507 CLCA1 -562002 MIR7856 -704574 MIR4423 -1928388 LINC01140 67504 LINC02801 124274 False False False False False False False False False False False False False True False False False
chr1:95491424:A:G 1.0000 Abnormality of the nervous system;Abnormality of metabolism/homeostasis - - LINC01761;ENSG00000304521;ENSG00000307625;ENSG00000305942;LINC02607 TLCD4-RWDD3 -244199 TLCD4 -293817 ALG14 -418473 CNN3 -564201 SLC44A3 -596178 F3 -949665 MIR378G -745524 MIR760 -1644513 LINC01761 -12068 LINC02607 18635 False False False True False False False False False False False False False True False False False
chr1:98264534:C:T 1.0000 Abnormality of the nervous system;Abnormality of metabolism/homeostasis - - ENSG00000294947;LINC01776 DPYD -269534 SNX7 397167 PLPPR5 625711 PLPPR4 999758 PALMD 1381579 FRRS1 1439436 MIR137 -218363 MIR2682 -219183 LINC01776 0 ENSG00000294947 61085 False False False True False False False False False False False False False True False False False
chr1:99305851:G:A 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the integument;Abnormality of blood and blood-forming tissues;Abnormality of the respiratory system;Abnormality of the immune system;Abnormality of the digestive system;Abnormality of limbs PLPPR4;PLPPR5 - PLPPR5-AS1 PLPPR4 0 PLPPR5 -77922 PALMD 340262 FRRS1 398119 AGL 544510 SNX7 -545351 MIR553 975390 MIR137 -1259680 PLPPR5-AS1 -61057 LINC01708 166366 True True True False False False True False False True False True True True True False False
chr1:111414894:C:CCCACAGGGG 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system CIMAP3;ADORA3;CHIA;OVGP1;WDR77;ATP5PB;C1orf162;TMIGD3 - ENSG00000229283;ENSG00000290561;ENSG00000260948;ENSG00000243960;ENSG00000296639 OVGP1 0 WDR77 24996 ATP5PB 33970 C1orf162 58898 CIMAP3 -61881 TMIGD3 68454 MIR4256 1046876 MIR197 -1815927 ENSG00000260948 16152 ENSG00000243960 23744 False True False False False False False False False True False False False True False False False
chr1:111734174:G:T 1.0000 Abnormality of the eye;Abnormality of the nervous system INKA2;DDX20;RAP1A;KCND3 - INKA2-AS1;ENSG00000298926;ENSG00000284830 INKA2 0 RAP1A -17483 DDX20 20658 KCND3 36488 TMIGD3 -170212 ADORA3 -230541 MIR4256 727596 MIR197 -2135207 ENSG00000298926 -3474 INKA2-AS1 5405 False False False False False False False False False True False False False True False False False
chr1:118531219:A:T 1.0000 Abnormality of the genitourinary system;Abnormality of the cardiovascular system - - ENSG00000297239;ENSG00000297215 SPAG17 -345991 TBX15 351827 WARS2 499997 WDR3 -564676 GDAP2 -601598 HAO2 837560 MIR942 -1436491 MIR320B1 -1859392 ENSG00000297215 0 ENSG00000297239 -54009 False False False False False True False False False False True False False False False False False
chr1:151054921:T:G 1.0000 Abnormality of the nervous system MINDY1;C1orf56;SETDB1;CERS2;PRUNE1;BNIPL;CDC42SE1;MLLT11;GABPB2;SEMA6C;ANXA9 - ENSG00000259357;ENSG00000305070;ENSG00000261168;ENSG00000298178;ENSG00000289288;ENSG00000298592;ENSG00000231073 CDC42SE1 0 C1orf56 -2935 MLLT11 5476 BNIPL -7201 GABPB2 15657 PRUNE1 -19208 MIR554 490875 MIR4257 -502907 ENSG00000305070 -72722 ENSG00000231073 -73706 False False False False False False False False False False False False False True False False False
chr1:156491372:T:C 1.0000 Abnormality of the nervous system IQGAP3;TTC24;MEF2D MIR9-1 ENSG00000237390;ENSG00000299261;ENSG00000299303;ENSG00000299282;ENSG00000303634;ENSG00000303589;ENSG00000288835;ENSG00000260460;MIR9-1HG MEF2D 0 IQGAP3 34033 TTC24 88351 NAXE 100384 GPATCH4 102929 RHBG -106153 MIR9-1 -70943 MIR765 444759 ENSG00000303634 9625 ENSG00000303589 10280 False False False False False False False False False False False False False True False False False
chr1:175192971:C:T 1.0000 Abnormality of the eye;Abnormality of the nervous system KIAA0040;TNN - ENSG00000302295;ENSG00000230687;ENSG00000260990 KIAA0040 0 TNN -44896 TNR 122223 MRPS14 -169546 CACYBP -180944 RABGAP1L -197663 MIR488 1836392 MIR199A2 -3048327 ENSG00000230687 10257 ENSG00000302295 -38708 False False False False False False False False False True False False False True False False False
chr1:180908420:A:C 1.0000 Abnormality of head or neck;Abnormality of the nervous system KIAA1614;XPR1;STX6 - LINC02816;ENSG00000294738;KIAA1614-AS1;ENSG00000294716;ENSG00000243155;ENSG00000294697 KIAA1614 4477 XPR1 -18141 STX6 64292 MR1 124954 IER5 180280 ACBD6 -405466 MIR3121 -470030 MIR4424 -2230586 ENSG00000294697 0 ENSG00000294738 353 False True False False False False False False False False False False False True False False False
chr1:211013619:T:G 1.0000 Abnormality of blood and blood-forming tissues ENSG00000283952;KCNH1 - ENSG00000284376 KCNH1 0 ENSG00000283952 69253 RCOR3 244758 TRAF5 312996 HHAT -337323 RD3 462903 MIR3122 1063994 MIR4260 -1390109 ENSG00000284376 94826 KCNH1-IT1 118961 True False False False False False False False False False False False False False False False False
chr1:211407980:A:C 1.0000 Abnormality of the genitourinary system;Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the endocrine system;Abnormality of the cardiovascular system;Abnormality of metabolism/homeostasis;Abnormality of the respiratory system;Abnormality of the digestive system TRAF5;RD3;RCOR3 - ENSG00000295178;ENSG00000287033;ENSG00000223649;LINC00467 TRAF5 -33034 RD3 68542 RCOR3 -91595 SLC30A1 163588 ENSG00000283952 -219447 NEK2 250677 MIR3122 669633 MIR4260 -1784470 LINC00467 0 ENSG00000287033 -24548 False True False True False True True False True True True False False True True False False
chr1:239119045:C:T 1.0000 Abnormality of the nervous system - - ENSG00000306863;ENSG00000287589 CHRM3 267520 FMN2 895303 ZP4 -1228123 RYR2 -1285057 GREM2 1370528 RGS7 1648591 MIR4428 -1647854 MIR3123 2013227 ENSG00000287589 8074 ENSG00000306863 56578 False False False False False False False False False False False False False True False False False
chr1:243270711:CTCT:C 1.0000 Abnormality of the nervous system;Abnormality of limbs CEP170;SDCCAG8 MIR4677 - SDCCAG8 0 CEP170 -14918 AKT3 217519 PLD5 -746014 ZBTB18 777833 SPMIP3 1081921 MIR4677 75462 MIR3123 -2138365 ENSG00000232085 -101266 ENSG00000227230 -129920 False False True False False False False False False False False False False True False False False
chr1:245173420:C:T 1.0000 Abnormality of the genitourinary system;Abnormality of the nervous system;Abnormality of the respiratory system;Abnormality of the digestive system EFCAB2;KIF26B - ENSG00000305266;KIF26B-AS1;ENSG00000305254 KIF26B 0 EFCAB2 -46256 HNRNPU -308860 COX20 -328363 C1orf202 -442405 DESI2 -464387 MIR4677 -1827165 MIR3916 2028547 ENSG00000305254 -19461 KIF26B-AS1 33024 False False False False False False True False False False True False False True True False False
chr20:16232482:G:A 1.0000 Abnormality of metabolism/homeostasis KIF16B - ENSG00000294201;ENSG00000287410 KIF16B 39622 MACROD2 -179285 SNRPB2 497479 OTOR 515876 PCSK2 993625 BFSP1 1261423 MIR3192 2238133 MIR6870 -5582787 ENSG00000287410 0 ENSG00000294201 -73647 False False False True False False False False False False False False False False False False False
chr20:50892526:G:A 1.0000 Abnormality of head or neck;Abnormality of the nervous system;Abnormality of the digestive system MOCS3;ADNP;DPM1;BCAS4 - ADNP-AS1 ADNP 0 BCAS4 -15349 DPM1 42341 MOCS3 66292 KCNG1 111130 PARD6B -135731 MIR1302-5 -277741 MIR645 -306647 ADNP-AS1 37710 ENSG00000232358 106814 False True False False False False True False False False False False False True False False False
chr20:63413556:G:A 1.0000 Abnormality of head or neck;Abnormality of the nervous system EEF1A2;CHRNA4;COL20A1;KCNQ2 - ENSG00000203900;ENSG00000305182;ENSG00000309924;ENSG00000293847;KCNQ2-AS1;ENSG00000302022;ENSG00000280936;ENSG00000230226 KCNQ2 0 CHRNA4 -35155 EEF1A2 74457 COL20A1 -78705 PPDPF 107198 PTK6 114445 MIR4326 -126690 MIR3196 -174714 ENSG00000280936 8713 ENSG00000309924 -16263 False True False False False False False False False False False False False True False False False
chr20:64098677:C:T 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the ear;Abnormality of the nervous system C20orf204;SOX18;LKAAEAR1;NPBWR2;PRPF6;TCEA2;RGS19;OPRL1;MYT1 MIR6813 ENSG00000237371;ENSG00000286999;ENSG00000300497 OPRL1 0 MYT1 3717 NPBWR2 5125 LKAAEAR1 -14279 RGS19 -18689 TCEA2 -26330 MIR6813 -21667 MIR647 -155951 ENSG00000286999 0 ENSG00000300497 41161 False True False False False False False True False True False False False True False False False
chr21:31667358:A:G 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system SOD1;SCAF4 - ENSG00000298042;ENSG00000298022;ENSG00000273271;ENSG00000300283;SOD1-DT;ENSG00000273091 SOD1 0 SCAF4 3642 TIAM1 -107381 HUNK 205662 MIS18A 600870 MRAP 624455 MIR4327 -1291980 MIR6501 1883304 ENSG00000273271 -111 SOD1-DT -7858 False True False False False False False False False True False False False True False False False
chr22:17372843:G:C 1.0000 Abnormality of the nervous system CECR2 - ENSG00000308791;ENSG00000308779 CECR2 0 ADA2 -114608 SLC25A18 190607 HDHD5 -207556 ATP6V1E1 219293 TMEM121B -251476 MIR3198-1 391337 MIR648 608025 ENSG00000308779 -23236 ENSG00000308791 -43638 False False False False False False False False False False False False False True False False False
chr22:37771920:G:A 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system LGALS1;H1-0;GALR3;NOL12;ENSG00000100101;GCAT;ANKRD54;EIF3L;TRIOBP MIR658;MIR659 ENSG00000302134;ENSG00000299971;ENSG00000307365 TRIOBP 0 H1-0 33309 GCAT 35985 ENSG00000100101 -45417 GALR3 51462 ANKRD54 58935 MIR658 72352 MIR659 75758 ENSG00000307365 -20081 ENSG00000299971 33306 False True False False False False False False False True False False False True False False False
chr22:39315703:G:A 1.0000 Abnormality of the genitourinary system;Abnormality of the nervous system;Abnormality of the integument;Abnormality of the respiratory system RPL3;PDGFB;SYNGR1;TAB1 - ENSG00000224794;ENSG00000299161;ENSG00000284633;ENSG00000299144;ENSG00000295778;ENSG00000295759;ENSG00000294968 RPL3 0 SYNGR1 34222 PDGFB -70721 TAB1 84075 MGAT3 141309 CBX7 -163023 MIR4534 -1326850 MIR6820 -1348079 ENSG00000295759 -5092 ENSG00000295778 -5542 False False False False False False False False False False True False True True True False False
chr22:47350490:T:G 1.0000 Abnormality of the nervous system - - ENSG00000303026;ENSG00000224715;LINC01644 TBC1D22A -174791 CERK -612238 GRAMD4 -670700 CELSR1 -812870 TRMU -993150 GTSE1 -1019680 MIR3201 923874 MIRLET7B -1236722 ENSG00000224715 0 ENSG00000303026 22471 False False False False False False False False False False False False False True False False False
chr2:2364109:G:A 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system MYT1L - ENSG00000301667;ENSG00000289941;ENSG00000297130;MYT1L-AS1 MYT1L -32445 PXDN -619257 TPO -820398 EIPR1 824816 SNTG2 -996496 TRAPPC12 1015566 MIR7158 3610553 MIR7515 4286264 ENSG00000301667 -30391 ENSG00000289941 -30819 False True False False False False False False False True False False False True False False False
chr2:30326684:A:G 1.0000 Abnormality of head or neck;Abnormality of the nervous system LBH - ENSG00000287658;LINC01936 LBH -2954 LCLAT1 120542 YPEL5 -166147 CAPN13 396087 ALK -405098 GALNT14 583783 MIR558 2205469 MIR4765 2308571 ENSG00000287658 16536 LINC01936 19939 False True False False False False False False False False False False False True False False False
chr2:39668285:C:T 1.0000 Abnormality of the nervous system THUMPD2;TMEM178A - ENSG00000307602;MAP4K3-DT TMEM178A 0 THUMPD2 67775 MAP4K3 -230984 CDKL4 -424302 SLC8A1 428985 SOS1 -543940 MIR548AD -4196799 MIR4430 -6249721 ENSG00000307602 -1157 MAP4K3-DT -2942 False False False False False False False False False False False False False True False False False
chr2:40830362:T:A 1.0000 Abnormality of the genitourinary system;Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the integument;Abnormality of the cardiovascular system;Abnormality of blood and blood-forming tissues;Abnormality of metabolism/homeostasis;Abnormality of the respiratory system;Abnormality of the immune system;Abnormality of the digestive system;Abnormality of limbs - - LINC01794;ENSG00000298207 SLC8A1 -219309 THUMPD2 -1051095 TMEM178A -1112399 PKDCC 1217659 EML4 1338991 MAP4K3 -1393061 MIR548AD -5358876 MIR559 6547313 ENSG00000298207 0 LINC01794 -62784 True True True True False True True False False True True True True True True False False
chr2:67363461:G:T 1.0000 Abnormality of the nervous system;Abnormality of the cardiovascular system;Abnormality of blood and blood-forming tissues ETAA1 - ENSG00000236605;ENSG00000296177;ENSG00000289533;LINC01829;LINC01828 ETAA1 33861 C1D 677669 DNAAF10 759475 ENSG00000273398 767777 MEIS1 -789592 PNO1 794427 MIR4778 -1005133 MIR3126 1740221 LINC01829 0 ENSG00000289533 -16830 True False False False False True False False False False False False False True False False False
chr2:79135725:ACTT:A 1.0000 Abnormality of the nervous system;Abnormality of the cardiovascular system;Abnormality of the respiratory system;Abnormality of the immune system;Abnormality of the digestive system REG1A;REG3A;REG1B;CTNNA2 - ENSG00000290771;ENSG00000224879 REG1A -12316 REG3A 21275 REG1B -47706 CTNNA2 49503 REG3G -107220 LRRTM1 1152623 MIR4264 513566 MIR8080 730767 ENSG00000290771 0 ENSG00000224879 22646 False False False False False True True False False False False True False True True False False
chr2:193669221:G:C 1.0000 Abnormality of the nervous system - - - TMEFF2 -1474288 CAVIN2 -1822133 SLC39A10 1906756 NABP1 -1928124 DNAH7 2068482 MYO1B -2243832 MIR3129 -4536110 MIR3606 -4673529 ENSG00000305948 -150411 ENSG00000286868 198501 False False False False False False False False False False False False False True False False False
chr2:210116214:G:C 1.0000 Abnormality of the nervous system RPE;ACADL;KANSL1L - ENSG00000272807;KANSL1L-AS1;ENSG00000279317 KANSL1L 0 ACADL 70912 RPE -93954 UNC80 -116914 MYL1 173936 LANCL1 310917 MIR548F2 2310049 MIR4775 -2361333 KANSL1L-AS1 -51858 ENSG00000279317 55275 False False False False False False False False False False False False False True False False False
chr2:210352206:T:G 1.0000 Abnormality of the nervous system;Abnormality of metabolism/homeostasis MYL1;LANCL1 - ENSG00000279317;LANCL1-AS1 MYL1 -37032 LANCL1 74925 CPS1 125476 ACADL -126759 KANSL1L -180797 RPE -329946 MIR548F2 2074057 MIR4776-2 2574051 ENSG00000279317 0 ENSG00000303622 -101305 False False False True False False False False False False False False False True False False False
chr2:211737579:G:A 1.0000 Abnormality of head or neck;Abnormality of the nervous system ERBB4 - - ERBB4 0 CPS1 -1058472 LANCL1 -1259927 IKZF2 1262112 MYL1 -1422405 ACADL -1512132 MIR548F2 688684 MIR4776-2 1188678 ENSG00000298388 -767396 ENSG00000308183 -789327 False True False False False False False False False False False False False True False False False
chr2:225171508:T:C 1.0000 Abnormality of the nervous system - - ENSG00000297438;ENSG00000297127 DOCK10 -129040 NYAP2 228202 CCDC195 -455143 CUL3 -586111 FAM124B -769401 SERPINE2 -1132190 MIR4439 -160968 MIR5702 1487202 ENSG00000297438 -57967 ENSG00000297127 -61712 False False False False False False False False False False False False False True False False False
chr2:232388984:G:T 1.0000 Abnormality of the nervous system;Abnormality of metabolism/homeostasis ALPP;ECEL1;ALPG;ALPI;DIS3L2 - ENSG00000237087;ENSG00000306068;ECEL1P2;ENSG00000304480 ALPP -6095 ALPG 17860 DIS3L2 -44634 ALPI 67141 ECEL1 90843 PRSS56 131404 MIR5001 161490 MIR562 -216237 ECEL1P2 -1940 ENSG00000237087 22302 False False False True False False False False False False False False False True False False False
chr3:5655803:G:T 1.0000 Abnormality of head or neck;Abnormality of the nervous system;Abnormality of metabolism/homeostasis;Abnormality of limbs - - ENSG00000301539;ENSG00000301493;ENSG00000301518;ENSG00000229642 EDEM1 -435845 ARL8B -474892 BHLHE40 -670480 ITPR1 -808297 GRM7 1114198 SUMF1 -1188530 MIR4790 -405548 MIR378B 4674426 ENSG00000229642 0 ENSG00000301493 6801 False True True True False False False False False False False False False True False False False
chr3:7973752:G:A 1.0000 Abnormality of the nervous system;Abnormality of limbs - - ENSG00000301044;ENSG00000296944;LMCD1-AS1 GRM7 -232219 LMCD1 528055 SSUH2 645634 CAV3 760050 OXTR 776629 RAD18 801650 MIR378B 2356477 MIR885 2420737 LMCD1-AS1 0 ENSG00000296944 -53766 False False True False False False False False False False False False False True False False False
chr3:9706919:G:A 1.0000 Abnormality of head or neck CPNE9;BRPF1;OGG1;CAMK1;TADA3;ARPC4;MTMR14;ARPC4-TTLL3 - ENSG00000302163;ENSG00000287878 CPNE9 0 MTMR14 -4526 BRPF1 24810 OGG1 43025 CAMK1 50428 TADA3 73048 MIR378B 623310 MIR885 687570 ENSG00000287878 0 ENSG00000302163 73045 False True False False False False False False False False False False False False False False False
chr3:14761700:T:G 1.0000 Abnormality of blood and blood-forming tissues CCDC174;FGD5;C3orf20 - ENSG00000230172;ENSG00000285969;LINC02011 C3orf20 0 FGD5 49153 CCDC174 -89041 NR2C2 185883 GRIP2 -205625 MRPS25 247911 MIR4270 734539 MIR3134 935598 ENSG00000230172 3252 ENSG00000285969 29834 True False False False False False False False False False False False False False False False False
chr3:15344169:C:T 1.0000 Abnormality of the nervous system;Abnormality of the cardiovascular system;Abnormality of limbs CAPN7;METTL6;EAF1;ENSG00000293553;SH3BP5 - SH3BP5-AS1;EAF1-AS1 SH3BP5 -2801 METTL6 37106 EAF1 83429 CAPN7 -91253 ENSG00000293553 95030 COLQ 105964 MIR4270 152070 MIR3134 353129 SH3BP5-AS1 -79654 EAF1-AS1 92002 False False True False False True False False False False False False False True False False False
chr3:16302725:C:T 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the ear;Abnormality of the nervous system;Abnormality of the breast;Abnormality of the integument;Abnormality of the cardiovascular system;Abnormality of blood and blood-forming tissues;Abnormality of metabolism/homeostasis;Abnormality of the digestive system;Abnormality of limbs DPH3;GALNT15;OXNAD1;RFTN1 - ENSG00000271964;ENSG00000272498;ENSG00000272529;ENSG00000287377;ENSG00000285654 OXNAD1 0 RFTN1 10849 DPH3 -37756 GALNT15 -70733 DAZL 284067 ANKRD28 -442954 MIR563 -428876 MIR3134 -605354 ENSG00000271964 11714 ENSG00000272498 36583 True True True True True True True True False True False False True True False False False
chr3:27147305:G:A 1.0000 Abnormality of the eye;Abnormality of the ear;Abnormality of the nervous system NEK10 - ENSG00000294122;ENSG00000307039 NEK10 0 SLC4A7 225418 LRRC3B -429768 EOMES 568644 CMC1 1094279 AZI2 1167698 MIR4442 -1482366 ENSG00000265028 -2625870 ENSG00000307039 -56825 ENSG00000294122 69261 False False False False False False False True False True False False False True False False False
chr3:38718659:A:G 1.0000 - SCN5A;SCN10A - ENSG00000301772 SCN10A 0 SCN5A -68916 SCN11A 127105 EXOG -176498 ACVR2B -225517 XYLB -297311 MIR6822 419547 MIR26A1 -749179 ENSG00000301772 94929 ENSG00000231243 105232 False False False False False False False False False False False False False False False False False
chr3:40652254:A:C 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of blood and blood-forming tissues;Abnormality of metabolism/homeostasis ZNF621 - ENSG00000226302;ENSG00000294106;ENSG00000294103;ENSG00000295859;ENSG00000289169;ENSG00000231873 ZNF621 -77569 ZNF620 -133518 ZNF619 -161201 RPL14 -183667 ENTPD3 -223510 EIF1B -339830 MIR6822 -1513988 MIR26A1 -2682774 ENSG00000289169 -6798 ENSG00000294103 24282 True True False True False False False False False True False False False False False False False
chr3:49182943:A:C 1.0000 Abnormality of the nervous system;Abnormality of the digestive system LAMB2;CCDC71;KLHDC8B;C3orf62;ENSG00000290315;QRICH1;QARS1;USP19;C3orf84;IHO1;USP4 MIR6890;MIR4271 ENSG00000302980;ENSG00000225399;ENSG00000300884 C3orf84 0 KLHDC8B -6457 IHO1 15485 CCDC71 -16612 LAMB2 -49825 USP19 -62005 MIR6890 -83029 MIR4271 91177 ENSG00000302980 -691 ENSG00000300884 -34505 False False False False False False True False False False False False False True False False False
chr3:52409358:A:C 1.0000 Abnormality of the eye;Abnormality of the nervous system BAP1;SEMA3G;TNNC1;DNAH1;PHF7;NISCH;STAB1 - ENSG00000296738;ENSG00000308410 BAP1 0 PHF7 1302 DNAH1 -8866 SEMA3G 23677 TNNC1 41742 NISCH 45760 MIR135A1 -115050 MIRLET7G -140997 ENSG00000308410 17064 ENSG00000296738 -99912 False False False False False False False False False True False False False True False False False
chr3:60373964:G:A 1.0000 Abnormality of the eye;Abnormality of the nervous system;Abnormality of the digestive system FHIT - - FHIT 0 PTPRG 1187605 CFAP20DC -1323880 FAM3D -1707130 FAM107A -1746354 ACOX2 -1836681 MIR548BB 243841 MIR3938 -4521370 ENSG00000299680 -240625 ENSG00000299700 -309959 False False False False False False True False False True False False False True False False False
chr3:66640162:A:G 1.0000 Abnormality of head or neck;Abnormality of the nervous system;Abnormality of the respiratory system - - ENSG00000296028;ENSG00000296009 LRIG1 -138899 SLC25A26 -252046 KBTBD8 358145 MAGI1 -601244 SUCLG2 720298 TAFA1 1364085 MIR4272 585302 MIR3136 2408796 ENSG00000296028 0 ENSG00000304579 122942 False True False False False False False False False False False False False True True False False
chr3:120307660:T:G 1.0000 Abnormality of head or neck;Abnormality of the ear;Abnormality of the nervous system LRRC58;FSTL1;GPR156 MIR198 ENSG00000293512;ENSG00000282950 LRRC58 16849 GPR156 -22438 FSTL1 84633 GSK3B -212666 NDUFB4 288668 HGD 320512 MIR198 88008 MIR5682 741980 ENSG00000293512 41789 ENSG00000282950 49625 False True False False False False False True False False False False False True False False False
chr3:135072648:C:A 1.0000 Abnormality of the ear;Abnormality of the nervous system;Abnormality of the cardiovascular system EPHB1 - ENSG00000240086 EPHB1 0 KY -421012 CEP63 -484859 ANAPC13 -585932 AMOTL2 -697169 RYK -821789 MIR5704 -3086717 MIR6826 -5800405 ENSG00000240086 65821 ENSG00000288700 -120997 False False False False False True False True False False False False False True False False False
chr3:150500047:G:A 1.0000 Abnormality of the nervous system TSC22D2;EIF2A;SERP1 - LINC01214 TSC22D2 -33625 SERP1 41951 EIF2A 46631 SELENOT 102828 ERICH6 159838 SIAH2 241078 MIR5186 1065829 MIR3919 8782599 LINC01214 -90453 ENSG00000289086 -101579 False False False False False False False False False False False False False True False False False
chr3:178071407:G:A 1.0000 Abnormality of the nervous system - - ENSG00000301516;ENSG00000301533;ENSG00000295322;ENSG00000286003;ENSG00000223930 KCNMB2 201525 ENSG00000275163 347716 TBL1XR1 -843407 ZMAT3 888714 PIK3CA 1076707 KCNMB3 1165284 MIR7977 -1556256 MIR4789 -2701786 ENSG00000286003 0 ENSG00000301516 -3363 False False False False False False False False False False False False False True False False False
chr3:185322284:G:A 1.0000 Abnormality of the genitourinary system;Abnormality of the nervous system EHHADH;MAP3K13 MIR5588 - MAP3K13 0 EHHADH -40294 TMEM41A 154212 C3orf70 -169224 LIPH 183978 SENP2 260212 MIR5588 -69012 MIR548AQ 445563 EHHADH-AS1 -130329 ENSG00000286086 176856 False False False False False False False False False False True False False True False False False
chr3:197755860:TGTTTTTGGGAAGTAAGTAGGAAAATGGACGCTTCTGC:T 1.0000 Abnormality of the nervous system RUBCN;FYTTD1;LRCH3 MIR922 ENSG00000236833;ENSG00000273375;ENSG00000234136;ENSG00000287286;ENSG00000273308 FYTTD1 0 RUBCN -6133 LRCH3 35329 IQCG 133180 BDH1 -182537 RPL35A 194293 MIR922 -81284 MIR4797 -461912 ENSG00000273375 33803 ENSG00000234136 74788 False False False False False False False False False False False False False True False False False
chr4:8660712:T:C 1.0000 Abnormality of the nervous system;Abnormality of metabolism/homeostasis;Abnormality of the respiratory system;Abnormality of limbs GPR78;CPZ - ENSG00000250915 GPR78 -40951 CPZ -40953 TRMT44 -167181 HMX1 185364 ACOX3 -219989 HTRA3 -353614 MIR95 -655331 MIR548I2 895456 ENSG00000250915 84679 ENSG00000302633 -102102 False False True True False False False False False False False False False True True False False
chr4:9992498:G:A 1.0000 Abnormality of the nervous system SLC2A9;WDR1 MIR3138 ENSG00000249219;SLC2A9-AS1 SLC2A9 0 WDR1 75591 DRD5 -208489 ZNF518B 447382 CLNK 493897 DEFB131A -541832 MIR3138 86113 MIR548I2 -436182 SLC2A9-AS1 13980 ENSG00000249219 -68352 False False False False False False False False False False False False False True False False False
chr4:24819781:A:C 1.0000 Abnormality of the nervous system SOD3;CCDC149 - - CCDC149 0 SOD3 -18939 LGI2 179066 DHX15 -235227 SEPSECS 300233 PI4K2B 340882 MIR573 -299491 MIR7978 -3355023 LINC02473 -148213 ENSG00000298600 154291 False False False False False False False False False False False False False True False False False
chr4:38093259:A:G 1.0000 Abnormality of the nervous system;Abnormality of the endocrine system TBC1D1 - ENSG00000302423;ENSG00000299611 TBC1D1 0 PTTG2 -132131 PGM2 -230322 RELL1 -406883 C4orf19 -469764 KLF3 570938 MIR574 774773 MIR4801 -851268 ENSG00000302423 -37102 ENSG00000299611 62183 False False False False False False False False True False False False False True False False False
chr4:48383760:C:G 1.0000 Abnormality of head or neck;Abnormality of the nervous system SLC10A4;SLAIN2 - ENSG00000296294 SLAIN2 0 SLC10A4 99583 ZAR1 106492 FRYL 113597 TEC -113922 TXK -249510 MIR8053 -731017 MIR4449 4328922 ENSG00000296294 -42705 ENSG00000296328 -126024 False True False False False False False False False False False False False True False False False
chr4:55396148:T:G 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the integument SRD5A3;ENSG00000288695;TMEM165;CLOCK - ENSG00000298345;SRD5A3-AS1;LINC02928 TMEM165 0 ENSG00000288695 -7780 SRD5A3 -23048 CLOCK 31755 PDCL2 160371 NMU 199081 MIR4449 -2683401 MIR548AG1 5526471 SRD5A3-AS1 -52 LINC02928 -7651 False True False False False False False False False True False False True True False False False
chr4:58379817:C:T 1.0000 Abnormality of the nervous system - - - IGFBP7 -1269432 POLR2B -1348659 NOA1 -1402211 REST -1413009 SPINK2 -1558075 HOPX -1697940 MIR548AG1 2542802 MIR4449 -5667070 LINC02494 144698 ENSG00000309366 185467 False False False False False False False False False False False False False True False False False
chr4:152621120:T:G 1.0000 Abnormality of the nervous system TMEM154;FBXW7 MIR4453 MIR4453HG;ENSG00000303437;ENSG00000248571;ENSG00000303415 TMEM154 0 FBXW7 -85028 TIGD4 148234 ARFIP1 158817 FHDC1 315203 TRIM2 531043 MIR4453 -84604 MIR3140 -131704 ENSG00000303437 13282 ENSG00000248571 45248 False False False False False False False False False False False False False True False False False
chr4:180336864:G:A 1.0000 Abnormality of head or neck;Abnormality of the nervous system;Abnormality of metabolism/homeostasis - - - TENM3 1807123 DCTD 2553196 WWC2 2762393 AGA -2894427 NEIL3 -2973928 CLDN22 2981236 MIR1305 1832429 MIR3945 4514149 ENSG00000306268 -110742 ENSG00000299149 112757 False True False True False False False False False False False False False True False False False
chr4:186037602:G:T 1.0000 Abnormality of the eye TLR3;FAM149A;SORBS2 - ENSG00000300929;ENSG00000300900;ENSG00000300873;ENSG00000307403 TLR3 31309 FAM149A 66817 SORBS2 -80950 CYP4V2 153965 ENSG00000290316 171377 KLKB1 188836 MIR4455 -1099162 MIR3945 -1186492 ENSG00000300873 -16575 ENSG00000300900 -18721 False False False False False False False False False True False False False False False False False
chr5:1443191:T:C 1.0000 Abnormality of the eye;Abnormality of the nervous system;Abnormality of the integument CLPTM1L;LPCAT1;SLC6A3 MIR6075 ENSG00000286388;ENSG00000300645;ENSG00000299935;ENSG00000305166;LINC01511;SDHAP3 SLC6A3 0 LPCAT1 13289 CLPTM1L -98092 TERT -148123 SLC6A18 -197002 SLC6A19 -218080 MIR6075 67571 MIR4457 -133814 ENSG00000299935 50407 ENSG00000300645 -56771 False False False False False False False False False True False False True True False False False
chr5:1484247:T:G 1.0000 Abnormality of the nervous system LPCAT1;SLC6A3 MIR6075 ENSG00000300645;ENSG00000299935;ENSG00000305166;ENSG00000294192;SDHAP3 LPCAT1 0 SLC6A3 -38807 CLPTM1L -139148 TERT -189179 SLC6A18 -238058 SLC6A19 -259136 MIR6075 26515 MIR4457 -174870 ENSG00000299935 9351 ENSG00000305166 18056 False False False False False False False False False False False False False True False False False
chr5:1894501:GGTGA:G 1.0000 Abnormality of the nervous system MRPL36;NDUFS6;IRX4 - CTD-2194D22.4;ENSG00000249966;ENSG00000306761;LINC02116;IRX4-AS1;ENSG00000288108;ENSG00000302871;ENSG00000302887;ENSG00000248597;ENSG00000248994 IRX4 -7265 NDUFS6 -78453 MRPL36 -93135 LPCAT1 -370219 SLC6A3 -449061 CLPTM1L -549402 MIR4277 -185633 MIR6075 -383645 CTD-2194D22.4 0 IRX4-AS1 -9080 False False False False False False False False False False False False False True False False False
chr5:10553531:G:A 1.0000 Abnormality of the eye;Abnormality of the nervous system ANKRD33B;ROPN1L MIR6131 ENSG00000302279;ANKRD33B-AS1;LINC02212;LINC02213 ROPN1L 0 ANKRD33B 10539 MARCHF6 -113143 DAP 125699 CMBL -245629 CCT5 -287142 MIR6131 -75386 MIR4636 -1499636 ENSG00000302279 -28220 LINC02213 -31447 False False False False False False False False False True False False False True False False False
chr5:11098884:T:C 1.0000 Abnormality of the genitourinary system;Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the integument;Abnormality of limbs CTNND2 - - CTNND2 0 DAP -337650 ANKRD33B -441068 ROPN1L -539168 MARCHF6 -658496 CMBL -790982 MIR6131 -620739 MIR4636 -2044989 ENSG00000293861 -207483 ENSG00000250576 -311859 False True True False False False False False False True True False True True False False False
chr5:21143380:A:G 1.0000 Abnormality of the nervous system;Abnormality of the endocrine system;Abnormality of the integument;Abnormality of blood and blood-forming tissues;Abnormality of metabolism/homeostasis;Abnormality of the immune system;Abnormality of the digestive system - - ENSG00000296785;ENSG00000249359 ENSG00000233974 337944 CDH18 -567507 CDH12 607293 PRDM9 2300206 CDH10 3343720 H3Y1 -3487531 MIR887 -5208120 MIR4637 -6317368 ENSG00000296785 -26673 ENSG00000249359 46457 True False False True False False True False True False False True True True False False False
chr5:50654173:A:AG 1.0000 Abnormality of the eye;Abnormality of the nervous system;Abnormality of the digestive system PARP8 - ENSG00000271752;ENSG00000301234;ENSG00000289056;ENSG00000301208 PARP8 11726 EMB -210925 ISL1 729275 PELO 2133743 ITGA2 2335167 MOCS2 2441506 MIR581 3297331 ENSG00000265421 3421345 ENSG00000271752 8686 ENSG00000301234 12051 False False False False False False True False False True False False False True False False False
chr5:108619724:C:A 1.0000 Abnormality of the eye;Abnormality of the nervous system;Abnormality of the integument;Abnormality of the respiratory system;Abnormality of the immune system;Abnormality of limbs - - ENSG00000308934;ENSG00000307906;ENSG00000307920;ENSG00000293711 FER 128117 FBXL17 -237626 PJA2 714989 EFNA5 -948787 MAN2A1 1070203 TMEM232 1669509 MIR548F3 1894105 MIR548P -7803159 ENSG00000293711 0 ENSG00000307906 -78644 False False True False False False False False False True False True True True True False False
chr5:120887594:G:A 1.0000 Abnormality of the genitourinary system;Abnormality of the nervous system - - ENSG00000306263;ENSG00000248927 PRR16 -200262 FTMT 964288 SRFBP1 1074381 LOX 1175601 ZNF474 1241952 ZNF475 1242028 MIR5706 -1732878 MIR1244-2 -1912924 ENSG00000306263 -42691 ENSG00000248927 -96061 False False False False False False False False False False True False False True False False False
chr5:146754817:CAGCTGTGTTGGTGAGCCATGATGGAAGCACTTCCTCCAGTCCCAGTCA:C 1.0000 Abnormality of the nervous system;Abnormality of the endocrine system PPP2R2B - ENSG00000304989 PPP2R2B 0 GPR151 -238627 TCERG1 -242856 POU4F3 -413089 ENSG00000275740 -415566 RBM27 -465594 MIR584 2307448 MIR143 2674053 ENSG00000304989 -20077 ENSG00000250407 -137434 False False False False False False False False True False False False False True False False False
chr5:153862497:AT:A 1.0000 Abnormality of the nervous system;Abnormality of the digestive system;Abnormality of limbs GRIA1 - ENSG00000261382;LINC01861 GRIA1 -48628 FAM114A2 127650 MFAP3 176461 GALNT10 328232 SAP30L 583499 HAND1 612474 MIR1294 484608 MIR3141 733514 LINC01861 24930 ENSG00000261382 38961 False False True False False False True False False False False False False True False False False
chr5:157812399:C:T 1.0000 Abnormality of the eye;Abnormality of the nervous system THG1L;LSM11;CLINT1 - ENSG00000309134;ENSG00000309117;ENSG00000295935;ENSG00000310258 CLINT1 0 LSM11 -51690 THG1L -70950 C5orf52 -132241 SOX30 -140919 ADAM19 -236624 MIR3142 2662003 MIR146A 2672953 ENSG00000295935 46820 ENSG00000310258 59088 False False False False False False False False False True False False False True False False False
chr5:172200702:T:G 1.0000 Abnormality of the eye EFCAB9;STK10;UBTD2 - ENSG00000295530;ENSG00000304471;ENSG00000309295 EFCAB9 0 UBTD2 8944 STK10 -12478 SH3PXD2B 124298 FBXW11 -193829 SMIM23 -404576 MIR5003 461463 MIR3912 -813942 ENSG00000304471 -23339 ENSG00000295530 -25217 False False False False False False False False False True False False False False False False False
chr5:173725414:A:G 1.0000 Abnormality of the nervous system;Abnormality of metabolism/homeostasis;Abnormality of limbs - - LINC01863;LINC01942;LINC01484;ENSG00000295805;ENSG00000307951;ENSG00000287003;LINC01485 BOD1 -108755 CPEB4 162935 C5orf47 248365 NSG2 320292 STC2 -396967 NKX2-5 -490103 MIR8056 -377878 MIR4634 1026320 LINC01942 0 ENSG00000287003 32148 False False True True False False False False False False False False False True False False False
chr6:885341:T:G 1.0000 Abnormality of the eye;Abnormality of the nervous system - - ENSG00000276687;ENSG00000297725;ENSG00000271727;LINC01622 EXOC2 -192202 HUS1B -228241 FOXQ1 426757 IRF4 -473898 FOXF2 504235 DUSP22 -533986 MIR6720 504973 MIR4645 1968690 ENSG00000276687 20104 LINC01622 50841 False False False False False False False False False True False False False True False False False
chr6:2561465:C:T 1.0000 Abnormality of the eye;Abnormality of the nervous system - - ENSG00000300849;ENSG00000287903;GMDS-DT;ENSG00000300829;LINC01600;LINC02521 MYLK4 102164 WRNIP1 203928 SERPINB1 270867 GMDS -315860 SERPINB9 325708 SERPINB6 386694 MIR4645 292566 MIR6720 -1171054 LINC01600 620 ENSG00000287903 -32800 False False False False False False False False False True False False False True False False False
chr6:9057841:T:C 1.0000 Abnormality of the nervous system;Abnormality of the cardiovascular system;Abnormality of metabolism/homeostasis - - ENSG00000297627;ENSG00000225775;HULC SLC35B3 -622280 EEF1E1 -955282 EEF1E1-BLOC1S5 -955311 BLOC1S5 -993445 BLOC1S5-TXNDC5 -993477 TXNDC5 -1147053 MIR5689 1381876 MIR7853 -2888406 HULC 0 ENSG00000297627 -32074 False False False True False True False False False False False False False True False False False
chr6:9193117:G:A 1.0000 Abnormality of the genitourinary system;Abnormality of head or neck;Abnormality of the eye;Abnormality of the ear;Abnormality of the nervous system - - ENSG00000225775;HULC SLC35B3 -757556 EEF1E1 -1090558 EEF1E1-BLOC1S5 -1090587 BLOC1S5 -1128721 BLOC1S5-TXNDC5 -1128753 TFAP2A 1200069 MIR5689 1246600 MIR7853 -3023682 HULC 0 ENSG00000225775 -31340 False True False False False False False True False True True False False True False False False
chr6:13287156:C:T 1.0000 Abnormality of the nervous system TBC1D7;PHACTR1;GFOD1 - ENSG00000303988;ENSG00000272379;ENSG00000289257;ENSG00000215022;ENSG00000295803 PHACTR1 0 GFOD1 70674 SIRT5 287071 NOL7 328179 RANBP9 334342 MCUR1 499401 MIR5689 -2847362 MIR4639 2854400 ENSG00000215022 0 ENSG00000272379 2862 False False False False False False False False False False False False False True False False False
chr6:43221047:C:G 1.0000 Abnormality of head or neck;Abnormality of the eye DNPH1;SRF;CUL9;SLC22A7;CRIP3;ZNF318;PTK7;TTBK1 - ENSG00000307823;ENSG00000294565;ENSG00000245261 CUL9 0 DNPH1 4582 TTBK1 22434 SRF -39541 PTK7 -59328 SLC22A7 74647 MIR6780B 213495 MIR4647 1033159 ENSG00000245261 0 ENSG00000294565 -46380 False True False False False False False False False True False False False False False False False
chr6:50844046:T:G 1.0000 Abnormality of blood and blood-forming tissues;Abnormality of the immune system TFAP2B;TFAP2D - ENSG00000297125;ENSG00000303025 TFAP2B 0 TFAP2D -71013 PKHD1 771253 DEFB112 -794117 DEFB110 -822052 DEFB113 -874421 MIR206 1300303 MIR133B 1304877 ENSG00000303025 6582 ENSG00000297125 -24802 True False False False False False False False False False False True False False False False False
chr6:64093731:T:G 1.0000 Abnormality of the nervous system;Abnormality of the cardiovascular system EYS - - EYS 0 PHF3 -314395 PTP4A1 -510143 LGSN -773748 FKBP1C -880704 ZC3H11C 1207745 MIR548U -6703519 MIR30C2 7283229 SCAT8 -270756 ENSG00000232120 284064 False False False False False True False False False False False False False True False False False
chr6:75361132:G:A 1.0000 Abnormality of head or neck;Abnormality of the nervous system;Abnormality of the integument;Abnormality of metabolism/homeostasis TMEM30A;FILIP1 MIR4463 ENSG00000238156;TMEM30A-DT;ENSG00000237174 FILIP1 0 TMEM30A -76184 COX7A2 -110809 COL12A1 -154865 SENP6 240377 MYO6 388069 MIR4463 67275 MIR4282 -2393379 ENSG00000237174 0 TMEM30A-DT -23205 False True False True False False False False False False False False True True False False False
chr6:96788123:G:A 1.0000 Abnormality of the nervous system GPR63 - ENSG00000224384;ENSG00000303966 GPR63 6002 NDUFAF4 101192 KLHL32 136497 FHL5 -169497 UFL1 -232847 MMS22L 354038 MIR2113 1236408 MIR548AI 2336486 ENSG00000224384 0 ENSG00000303966 -66719 False False False False False False False False False False False False False True False False False
chr6:99458506:AG:A 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the ear;Abnormality of the nervous system;Abnormality of the integument;Abnormality of the cardiovascular system COQ3;PNISR;TSTD3;CCNC;USP45 - PNISR-AS1 USP45 0 PNISR -33175 TSTD3 62469 COQ3 -64311 CCNC 83880 FAXC -108444 MIR548AI -333810 MIR2113 -1433885 PNISR-AS1 0 ENSG00000305174 157461 False True False False False True False True False True False False True True False False False
chr6:106675038:C:T 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the ear;Abnormality of the nervous system;Abnormality of the breast;Abnormality of the endocrine system;Abnormality of the integument;Abnormality of the cardiovascular system;Abnormality of the digestive system;Abnormality of limbs RTN4IP1;QRSL1 - LINC02526;ENSG00000289020;LINC02532 QRSL1 -6621 RTN4IP1 -45540 CRYBG1 -103021 CD24 294793 ATG5 -349247 MTRES1 353161 MIR587 109087 MIR548AI -7550342 LINC02526 18707 ENSG00000289020 27808 False True True False True True True True True True False False True True False False False
chr6:112291562:T:C 1.0000 Abnormality of the genitourinary system;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the digestive system RFPL4B;ENSG00000281613;LAMA4 - ENSG00000306465;ENSG00000270661;ENSG00000271208;LAMA4-AS1;ENSG00000306444 ENSG00000281613 0 LAMA4 -36623 RFPL4B 55768 FAM229B -188772 TUBE1 -204033 CCN6 -221876 MIR587 -5507342 MIR548B 6777485 LAMA4-AS1 0 ENSG00000271208 -56804 False False False False False False True False False True True False False True False False False
chr6:128910199:G:C 1.0000 Abnormality of the nervous system LAMA2 - - LAMA2 0 PTPRK -389583 ARHGAP18 665933 TMEM244 921045 THEMIS -991568 L3MBTL3 1103500 MIR588 -2425486 MIR548H5 2881973 ENSG00000302848 -205464 ENSG00000302829 -247721 False False False False False False False False False False False False False True False False False
chr6:134544995:T:C 1.0000 Abnormality of head or neck;Abnormality of the nervous system;Abnormality of the immune system;Abnormality of the digestive system - - ENSG00000296874;ENSG00000229722;ENSG00000227723;ENSG00000236389;LINC01010;CT69;ENSG00000293692;LINC03002 SGK1 -226883 ALDH8A1 372398 HBS1L 415383 SLC2A12 -492371 TBPL1 -554563 ENSG00000288529 -564907 MIR3662 434343 MIR548A2 694165 ENSG00000293692 0 ENSG00000296874 5226 False True False False False False True False False False False True False True False False False
chr6:142433203:A:G 1.0000 Abnormality of the nervous system ADGRG6 - ENSG00000299180;ENSG00000236366 ADGRG6 0 VTA1 -208518 NMBR -286081 GJE1 -297845 HIVEP2 318266 AIG1 627293 MIR4465 -1749320 MIR3668 -2227877 ENSG00000299180 -55820 ENSG00000236366 93249 False False False False False False False False False False False False False True False False False
chr6:142587417:T:C 1.0000 Abnormality of the eye;Abnormality of the nervous system - - ENSG00000287084;ENSG00000297030;ENSG00000236366 ADGRG6 -141151 HIVEP2 164052 VTA1 -362732 NMBR -440295 GJE1 -452059 AIG1 473079 MIR4465 -1903534 MIR3668 -2382091 ENSG00000236366 0 ENSG00000287084 84522 False False False False False False False False False True False False False True False False False
chr6:148493745:A:G 1.0000 Abnormality of the nervous system SASH1 - - SASH1 0 UST 253285 TAB2 724896 SAMD5 -756198 SUMO4 906517 ZC3H12D 953050 MIR1273C 6359615 MIR1202 7453052 ENSG00000309488 124003 ENSG00000299243 148334 False False False False False False False False False False False False False True False False False
chr6:161943905:C:CTGAGGGATCAGCCT 1.0000 Abnormality of the genitourinary system;Abnormality of the nervous system PRKN - - PRKN 0 AGPAT4 -669844 PACRG 783227 MAP3K4 -826520 PLG -1189808 LPA -1279630 MIR3918 -3179152 MIR7161 -3334115 ENSG00000303181 290838 ENSG00000286805 -497200 False False False False False False False False False False True False False True False False False
chr6:167744849:C:T 1.0000 Abnormality of head or neck AFDN - ENSG00000287594;ENSG00000299557;ENSG00000297243;ENSG00000289838;ENSG00000269155;ENSG00000303475;ENSG00000287297;LINC02538;LINC02487;ENSG00000299542;AFDN-DT;ENSG00000285212 AFDN 82044 KIF25 251392 FRMD1 308246 TTLL2 -385346 UNC93A -428835 DACT2 547981 MIR3939 -746937 MIR1913 -1235416 ENSG00000297243 0 ENSG00000289838 6334 False True False False False False False False False False False False False False False False False
chr7:22355127:C:T 1.0000 Abnormality of the nervous system RAPGEF5;STEAP1B - - RAPGEF5 0 STEAP1B 64317 IL6 370757 CDCA7L -409224 DNAH11 -453288 TOMM7 457501 MIR1183 -883981 MIR3146 -2649691 ENSG00000305201 -201048 STEAP1B-AS1 206483 False False False False False False False False False False False False False True False False False
chr7:22998743:T:A 1.0000 Abnormality of the nervous system;Abnormality of the digestive system HYCC1 - SNHG26 HYCC1 0 KLHL7 107015 TOMM7 -175894 NUP42 183098 GPNMB 237224 IL6 -266741 MIR1183 -1527597 MIR148A 2951176 SNHG26 -84958 KLHL7-DT 101471 False False False False False False True False False False False False False True False False False
chr7:38392133:C:T 1.0000 Abnormality of head or neck;Abnormality of the nervous system;Abnormality of the digestive system AMPH - ENSG00000289366;ENSG00000290084;ENSG00000303710;ENSG00000272908;TRG-AS1 AMPH 0 TARP -118497 STARD3NL -161463 CFAP144P1 293213 VPS41 330841 SFRP4 -366438 MIR1200 -1472701 MIR548N -3451299 TRG-AS1 -13329 ENSG00000272908 -62490 False True False False False False True False False False False False False True False False False
chr7:69899352:C:T 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the ear;Abnormality of the nervous system;Abnormality of the integument;Abnormality of the immune system;Abnormality of the digestive system AUTS2 - - AUTS2 0 GALNT17 1232792 CALN1 1880139 SPDYE21 -2610347 TYW1B 2659392 TYW1 -2659838 MIR3914-1 1408320 MIR3914-2 1408322 CT66 -301336 ENSG00000301483 -302368 False True False False False False True True False True False True True True False False False
chr7:73599788:G:A 1.0000 Abnormality of the nervous system;Abnormality of metabolism/homeostasis TBL2;VPS37D;DNAJC30;BAZ1B;BCL7B;MLXIPL;BUD23;STX1A - ENSG00000274080 MLXIPL 0 TBL2 -20997 BCL7B -42098 VPS37D 68043 BAZ1B -77495 DNAJC30 81130 MIR4284 111529 MIR590 591410 ENSG00000274080 9474 ENSG00000293503 121912 False False False True False False False False False False False False False True False False False
chr7:140834798:G:A 1.0000 Abnormality of the nervous system BRAF - ENSG00000295818;ENSG00000289788 BRAF 0 NDUFB2 -112008 ADCK2 -138537 DENND2A -160805 MRPS33 167812 TMEM178B 239266 MIR6892 2547888 MIR4468 -2710977 ENSG00000289788 -39155 ENSG00000295818 90251 False False False False False False False False False False False False False True False False False
chr8:1860262:T:G 1.0000 Abnormality of the genitourinary system;Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of the cardiovascular system;Abnormality of the digestive system CLN8;KBTBD11-OT1;ARHGEF10 MIR3674;MIR596 CLN8-AS1;ENSG00000285957;ENSG00000287464;ENSG00000303852;ENSG00000304200 KBTBD11-OT1 0 CLN8 -58551 KBTBD11 113415 DLGAP2 -151786 MYOM2 184784 CSMD1 1075091 MIR596 -42955 MIR3674 -59070 ENSG00000303852 0 ENSG00000287464 -43149 False True False False False True True False False True True False False True False False False
chr8:1942675:G:A 1.0000 Abnormality of the ear;Abnormality of the nervous system;Abnormality of the cardiovascular system KBTBD11;KBTBD11-OT1;ARHGEF10 - ENSG00000285957;KBTBD11-AS1;ENSG00000270988;ENSG00000309450;ENSG00000303852;ENSG00000304200;KBTBD11-OT1;ENSG00000289473 KBTBD11-OT1 0 KBTBD11 31002 MYOM2 102371 CLN8 -140964 DLGAP2 -234199 CSMD1 992678 MIR596 -125368 MIR7160 133914 ENSG00000304200 6917 ENSG00000285957 15246 False False False False False True False True False False False False False True False False False
chr8:3645504:G:C 1.0000 Abnormality of the nervous system;Abnormality of the cardiovascular system;Abnormality of limbs CSMD1 - ENSG00000307692 CSMD1 0 MYOM2 -1479952 KBTBD11 -1638568 ARHGEF10 -1686863 KBTBD11-OT1 -1686877 CLN8 -1843793 MIR7160 -1568864 MIR596 -1828197 ENSG00000307692 -17447 ENSG00000285861 -218917 False False True False False True False False False False False False False True False False False
chr8:4153319:G:A 1.0000 Abnormality of head or neck;Abnormality of the nervous system CSMD1 - - CSMD1 0 MYOM2 -1987767 KBTBD11 -2146383 ARHGEF10 -2194678 KBTBD11-OT1 -2194692 MCPH1 2253273 MIR7160 -2076679 MIR596 -2336012 ENSG00000286934 164069 ENSG00000299720 299168 False True False False False False False False False False False False False True False False False
chr8:10659584:C:T 1.0000 Abnormality of the eye;Abnormality of the nervous system;Abnormality of metabolism/homeostasis SOX7;C8orf74;RP1L1;PINX1 MIR4286 ENSG00000297206;ENSG00000304818;ENSG00000248896 RP1L1 0 C8orf74 13044 SOX7 64184 PINX1 65815 PINX1 105377 PRSS55 -105418 MIR4286 7394 MIR1322 165789 ENSG00000248896 69718 ENSG00000304818 -78283 False False False True False False False False False True False False False True False False False
chr8:13038110:C:G 1.0000 Abnormality of the genitourinary system;Abnormality of head or neck;Abnormality of the ear;Abnormality of the nervous system TRMT9B;DLC1 - ENSG00000303772;ENSG00000300589 TRMT9B -6607 DLC1 45251 LONRF1 -282037 C8orf48 528759 FAM86B2 -601704 DEFB130A -719794 MIR3926-1 -310806 MIR3926-2 -310811 ENSG00000303772 11349 ENSG00000300589 29043 False True False False False False False True False False True False False True False False False
chr8:32331793:G:T 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the nervous system;Abnormality of metabolism/homeostasis;Abnormality of the digestive system NRG1 - - NRG1 0 ENSG00000286131 315409 FUT10 1039031 TTI2 1141593 MAK16 1153389 WRN -1155655 MIR3148 -2374445 MIR4288 -3826611 NRG1-IT3 108911 ENSG00000305898 -110331 False True False True False False True False False True False False False True False False False
chr8:33901607:G:T 1.0000 Abnormality of the eye - - ENSG00000253642;ENSG00000254194 DUSP26 -301584 RNF122 -334479 TTI2 -388422 MAK16 -400345 FUT10 -428461 NRG1 -1045941 MIR3148 -3944259 MIR4288 -5396425 ENSG00000253642 0 ENSG00000254194 72077 False False False False False False False False False True False False False False False False False
chr8:52569798:T:G 1.0000 Abnormality of the nervous system ALKAL1;RB1CC1 - - ALKAL1 -4368 RB1CC1 52660 ST18 -108839 NPBWR1 369384 OPRK1 655926 PCMTD1 -670612 MIR4470 9144990 MIR4469 -9673523 ENSG00000288818 144718 ENSG00000271555 153105 False False False False False False False False False False False False False True False False False
chr8:60179494:C:T 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the ear;Abnormality of the nervous system;Abnormality of the integument;Abnormality of the cardiovascular system;Abnormality of the digestive system;Abnormality of limbs CA8 - ENSG00000254775 CA8 5918 RAB2A 337442 CHD7 499246 CLVS1 877664 TOX -1060347 ASPH 1321062 MIR4470 1535294 MIR124-2 4199655 ENSG00000254775 -42895 LINC01301 105409 False True True False False True True True False True False False True True False False False
chr8:76187151:ACACAGATATTTACTCAGAGGACTCACTAGTACCATTAGCAAGTTCTG:A 1.0000 Abnormality of head or neck;Abnormality of the nervous system;Abnormality of metabolism/homeostasis;Abnormality of limbs - - ENSG00000287352 ZFHX4 494041 HNF4G -620317 PEX2 793060 CRISPLD1 -1152593 PI15 -1332122 GDAP1 -1669144 MIR3149 779570 MIR2052 -1481404 ENSG00000287352 0 ENSG00000306820 171104 False True True True False False False False False False False False False True False False False
chr8:105741303:G:A 1.0000 Abnormality of the eye;Abnormality of the nervous system;Abnormality of the integument;Abnormality of the respiratory system;Abnormality of the immune system;Abnormality of limbs ZFPM2 - ENSG00000253526;ENSG00000253420;ENSG00000254141;ZFPM2-AS1 ZFPM2 0 OXR1 528841 ABRA 1018180 LRP12 -1152045 DPYS -1274248 DCSTAMP -1384614 MIR548A3 -1256838 MIR3151 -2586614 ZFPM2-AS1 0 ENSG00000253420 -55538 False False True False False False False False False True False True True True True False False
chr8:123479455:T:C 1.0000 Abnormality of the nervous system FBXO32;ATAD2;NTAQ1 - ENSG00000254113 NTAQ1 -9427 FBXO32 18434 ATAD2 -63105 KLHL38 164987 ANXA13 201339 ZHX1 -203914 MIR548AA1 -131325 MIR4663 -263592 ENSG00000254113 83615 ENSG00000308850 121740 False False False False False False False False False False False False False True False False False
chr8:124926175:C:T 1.0000 Abnormality of the nervous system ZNF572;SQLE;WASHC5 - ENSG00000299007;ENSG00000255313;ENSG00000286955;SQLE-DT;ENSG00000255491;ENSG00000299036;LINC00964 ZNF572 47120 SQLE 72322 WASHC5 98085 NSMCE2 165504 MTSS1 -197702 NDUFB9 -345527 MIR4662B -104117 MIR4662A -104124 LINC00964 0 ENSG00000255313 9629 False False False False False False False False False False False False False True False False False
chr8:135258499:AAGG:A 1.0000 Abnormality of the nervous system - - ENSG00000294149;LINC01591 KHDRBS3 198954 ZFAT -545450 ST3GAL1 -1686573 NDRG1 -1956477 CCN4 -2026809 TG -2123596 MIR30D -453554 MIR30B -457892 LINC01591 0 ENSG00000294149 -70245 False False False False False False False False False False False False False True False False False
chr8:137913609:T:C 1.0000 Abnormality of head or neck;Abnormality of the respiratory system;Abnormality of the immune system;Abnormality of limbs - - ENSG00000307426;ENSG00000253288;ENSG00000254361 FAM135B 216414 COL22A1 674626 KCNK9 1687229 TRAPPC9 1814116 KHDRBS3 -2256887 CHRAC1 2597702 MIR151A 2818955 MIR30D -3108664 ENSG00000253288 0 ENSG00000307426 -73038 False True True False False False False False False False False True False False True False False
chr8:139104217:C:A 1.0000 Abnormality of the nervous system - - ENSG00000253432;ENSG00000253783;ENSG00000303791 COL22A1 -190176 KCNK9 496621 FAM135B -606956 TRAPPC9 623508 CHRAC1 1407094 AGO2 1415939 MIR151A 1628347 MIR1302-7 2682025 ENSG00000253432 -1387 ENSG00000253783 9976 False False False False False False False False False False False False False True False False False
chr9:4091687:C:T 1.0000 Abnormality of the eye;Abnormality of the nervous system;Abnormality of the respiratory system;Abnormality of limbs GLIS3 - ENSG00000230001;ENSG00000294238 GLIS3 0 SLC1A1 398781 SPATA6L 461699 RFX3 -565683 PLPP6 570607 CDC37L1 587872 MIR101-2 758610 MIR4665 1916139 ENSG00000230001 -19803 ENSG00000294238 -97031 False False True False False False False False False True False False False True True False False
chr9:21838177:G:A 1.0000 Abnormality of head or neck;Abnormality of the nervous system;Abnormality of blood and blood-forming tissues;Abnormality of metabolism/homeostasis;Abnormality of the immune system;Abnormality of the digestive system MTAP - ENSG00000265194;ENSG00000299739;ENSG00000264545 MTAP 0 CDKN2A 129575 CDKN2B 164726 IFNE -355864 IFNA1 -396861 IFNA8 -427992 MIR31 -325992 MIR491 -1121989 ENSG00000264545 0 ENSG00000265194 20733 True True False True False False True False False False False True False True False False False
chr9:36966668:G:A 1.0000 Abnormality of the eye;Abnormality of the nervous system PAX5 MIR4476 ENSG00000250850;ENSG00000305240;ENSG00000306278;EBLN3P PAX5 0 ZCCHC7 153906 MELK -288985 GRHPR 455998 ZBTB5 471434 RNF38 -479120 MIR4476 -73137 MIR4540 -102360 ENSG00000250850 35967 ENSG00000305240 61270 False False False False False False False False False True False False False True False False False
chr9:38046159:G:A 1.0000 Abnormality of head or neck;Abnormality of the nervous system SHB;ENSG00000255872 - ENSG00000296098;ENSG00000295133;ENSG00000296661 ENSG00000255872 0 SLC25A51 -141806 DCAF10 -178493 EXOSC3 -214042 TRMT10B -267187 FRMPD1 -299255 MIR4476 -1152628 MIR4540 -1181851 ENSG00000296098 25109 ENSG00000295133 30340 False True False False False False False False False False False False False True False False False
chr9:76193256:G:A 1.0000 Abnormality of head or neck;Abnormality of the nervous system PCSK5 - - PCSK5 0 RFK 192270 GCNT1 226594 PRUNE2 418120 FOXB2 826399 VPS13A 984189 MIR204 -5383172 MIR7-1 7776492 ENSG00000301855 135071 ENSG00000310253 201536 False True False False False False False False False False False False False True False False False
chr9:109486942:G:A 1.0000 Abnormality of the nervous system PTPN3;PALM2AKAP2 MIR3927 ENSG00000294633 PTPN3 0 PALM2AKAP2 11383 EPB41L4B -165883 FRRS1L -319693 TMEM245 -366995 CTNNAL1 -473420 MIR3927 24533 MIR32 -440644 ENSG00000294633 17573 ENSG00000232939 273408 False False False False False False False False False False False False False True False False False
chr9:109625159:G:T 1.0000 Abnormality of the nervous system;Abnormality of metabolism/homeostasis PALM2AKAP2 - ENSG00000294633 PALM2AKAP2 0 PTPN3 -126846 EPB41L4B -304100 FRRS1L -457910 TMEM245 -505212 C9orf152 564889 MIR3927 -113614 MIR32 -578861 ENSG00000294633 -86594 ENSG00000232939 135191 False False False True False False False False False False False False False True False False False
chr9:129545566:C:T 1.0000 Abnormality of the nervous system ASB6;C9orf50;NTMT1 - ENSG00000226355;ENSG00000300826;ENSG00000261334;ENSG00000286078;ENSG00000309427;ENSG00000309409;ENSG00000234789;ENSG00000230676;ENSG00000309757;ENSG00000304586;ENSG00000227619;LINC00963 NTMT1 63318 C9orf50 66659 ASB6 89038 PRRX2 120081 PTGES 192765 TOR1B 257591 MIR6855 324039 MIR6856 1080731 ENSG00000304586 14991 ENSG00000227619 29551 False False False False False False False False False False False False False True False False False
chr9:134625793:G:A 1.0000 Abnormality of head or neck;Abnormality of the eye;Abnormality of the ear;Abnormality of the nervous system;Abnormality of the voice;Abnormality of the respiratory system;Abnormality of the immune system;Abnormality of the digestive system COL5A1 - ENSG00000297129;ENSG00000227150;ENSG00000306512;COL5A1-AS1;ENSG00000228877 COL5A1 16010 RXRA -185208 FCN2 255017 FCN1 277439 OLFM1 449629 WDR5 -465825 MIR3689C 223505 MIR3689A 223694 ENSG00000306512 2035 COL5A1-AS1 23592 False True False False False False True True False True False True False True True False True